What is sensitivity? What is specificity? 100% sensitivity means what? 100% specificity means what? What is case-control study?

what does it measure? What is a cohort study?What does it measure? What is a cross-sectional study? what does it measure? What is the difference between a double and triple blinded study? what does a phase I trial do? what does a phase II trial do? what do phase III trials do? what do phase IV trials do? What is positive predictive value? (PPV) What is negative predicitive value? contrast prevalence to incidence What is an odds ratio? What is relative risk? what is attrutitable risk? what is absolute risk reduction (ARR)? How is number needed to treat calculated? How is number to harm calculared? constract precision vs. accuracy.

What does random error cause? How do you decrese standard deviation? What does systematic error cause? What is selection bias? what is recall bias? what is sampling bias what is late-look bias? what is procedure bias? what is confounding bias? what is lead-time bias? what is observer-expectancy effect? what is hawthorne effect? 5 ways bias can be reduced: what is postive skew What is negative skew? What is type I error? What is type II error? What is statistical power and how do you increase it? What is a confidence interval? when to use t-test? when to use ANOVA When to use Chi-square test?

what is pearson's correlation coefficient? compare primary, secondary, and tertiary prevention. Medicare and medicaid are for what groups? What is apgar score? What is a low birth weight? Give developmental milestones birth3mo(motor,social,verbal) Give developmental milestones b79mo(motor,social,verbal) Give developmental milestones 1215mo(motor,social,verbal) Give developmental milestones 2436mo(motor,social,verbal) Give developmental milestones 3yr(motor,social,verbal) Give developmental milestones 4yr(motor,social,verbal) what is rooting reflex what is moro reflex what is babinski sign give BMI formula when does grief become patholgoic Define mean, median, mode What is effect modification? Is it a bias? How is smoking screened for with a lab? What is orotic aciduria(physiology,findings,tx)

What is adenosine deaminase deficiency(give physiology)

What is Lesch-Nyan syndrome(physiology,findings) Mutation in ataxia telangiestica mutaiton in xeroderma pigmentosum What cell types are permanent what cells types are stable(quiescent) what cell types are labile? I-cell disease(physiology,findings)

Chediak-Higashi syndrome(physiology,findings) vimentin stains: desmin stains: cytokeratin stains: GFAP stains neurofilaments stain type I collagen(found in,defective in:) type II collagen(found in) type III collagen(found in, defective in) Type IV collagen(found in, defective in) Marfans syndrome is a defect of: Prader-Willi syndrome(genetics,findings) Angelman's syndrome(genetics,findings) Achondroplasia(dominance,physiology,findings) Autosomal-dominant polycycstic kidney disease(ADPKD)(dominance,physiology,findings) what diseases are associated with ADPKD? Familial adenomatous polyposis(dominance,physiology,findings) Hereditary hemorrhagic telangiectasia(osler-weber-rendu syndrome)(dominance,physiology,findings) Hereditary spherocytosis(dominance,physiology,findings) Huntington's disease(dominance,physiology,findings)

Neurofibromatosis type 1(von recklinghausen disease)(dominance,physiology,findings)

neurofibromatosis type 2(dominance,physiology,findings) Tuberous sclerosis(dominance,findings) von Hippel-Lindau(dominance,physiology,findings)

Cystic fibrosis(dominance,physiology,findings)

what lab is diagnostic for cystic fibrosis? Fragile-X syndrome(dominance,physiology,findings)

Duchenne's dystrophy(dominance,physiology,findings)

Why do mutaitons in dystrophin gene occur so often? What are the pregancy quad screen results for down syndrome? What are the pregancy quad screen results for edwards syndrome? What are the pregnancy quad screens for Patau's syndrome? Cri-du-chat syndrome(dominance,physiology,findings) Williams syndrome(dominance,physiology,findings) What are the fat soluble vitamins? vitamin A(function, defiency,excess)

Vitamin B1(thiamin)(function, defiency)

Wernicke-Korsakoff syndrome(cause, findings) Dry beriberi(cause, findings) Wet beriberi(cause,findings) vitamen B2(riboflavin)(function, defiency) vitamin B3(niacin)(function, defiency,excess)

vitamin B3 deficiency can be caused by what primary things? Vitamin B5(pantothenate)(function, defiency) vitamin B6(pyridoxine)(function, defiency)

Vitamin B7(biotin)(function, defiency)

Vitamin B9(folic acid)(function, defiency) vitamin B12(cobalamin)(function, defiency)

What are the two vitamin defiency causes of macrocytic,megalolastic anemia? Differences? Vitamin C(function, defiency,excess)

Vitamin D(function, defiency,excess)

Vitamin E(function, defiency,excess) Vitmain K(function, defiency,excess)

Zinc(function, defiency) Nitric oxide is made from what amino acid? Urea is made from what amino acids? Heme is made from what amino acid? Creatine is made from what amino acid? GABA is made from what amino acid? glutathione is made from what amino acid? pyrimidines are made from what amino acids? purines are made from what amino acids? histamine is made from what amino acid? describe dopamine synthesis by reactants describe melatonin synthesis by reactants niacin is made from what amino acid?

thyroxine and melanin are made from what amino acid? what test can be done to diagnose chronic granulamtous disease? What are the trinucleotide repeats in Fragile X syndrome? What are the trinucleotide repeats in Friedreich's Ataxia? what are the trinucleotide repeats in huntington's disease? What are the trinucleotide repeats in myotonic dystrophy? What is the most common leathal,genetic disease in white populations? What are the two 22q11 deletion syndromes? Pyruvate dehydrogenase complex deficiency(physioogy, findings, treatment) Essential fructosuria(physiology,findings) fructose intolerance(physiology, findings, treatment)

Galastose deficiency(physiology,treatment) Classic galactosemia(physiology, findings, treatment)

Which tissues are at risk for sorbitol damage? how does this damage occur? ornithine transcarboxylase deficiency(physiology, findings)

Phenylketonura(physiology, findings, treatment)

Alkaptonuria(symptoms,findings)

Albinism(physiology, findings)

Homocystinuria(physiology,findings)

Cystinuria(physiology, symptom, treatment)

Maple syrup urine disease(physiology, findings) Hartnup disease (physiology, findings)

What is codominance? What is variable espressivity? what is incomplete penetrance? What is pleiotropy? what is imprinting? What is a dominant-negative phenotype? What is linke disequilibrum? What is a chimeric individual? What is locus heterogeneity? What is heteroplasmy? What is uniparental disomy? Hardy weinburg assumes what 4 things: What is the difference between heterodisomy and isodisomy? What does red safarin O strain? Pagophobia is specific for what nutrient defiecency? What is Alpha-amantin? Hartnup disease leads to what skin condition. Why? What causes death in iron poisioning? What causes xeroderma pigmentosum? What is the difference between histone methylation and acetylation? What amino acids are encoded by only 1 codon?

What is the purpose of single-stranded binding proteins? What are the 3 RNA polymerases in eukaryotes? p53 and hypophosphorylated Rb do what function? What is the function of COP I, COP II, and Clarithin? What is the function of peroxisome? What is associated with Ehler's-Danlos? What is alport syndrome associated with? What are southern, nothern, and western blots for? How does ethanol metabolism lead to inhibited gluconeogenesis and fatty liver? What causes fatty liver in Kwashiorkor? What are the 3 possible causes of albinism?

Where are many of the B-lactames held in bacteria? An activating mutation in what can lead to gout? What is the most common cystic fibrosis gene defect? What do stop codons code for? What are the findings in friedrich's ataxia? what is the difference between dysplasia and carcinoma? what is mult-drug resistance 1 gene?

Thiamine deficiency can be diagnosed using what lab? What is the purpose of iNOS? Can linkage disequilibrium occur with genes in different chromosomes? GLUT transporters have a preference for what type of glucose? What is the shine-delgarno sequence? Calcification (like in valves and cholesterol plaques) is a hallmark for what cellular process? What is hemosiderin? Can prokaryotes or eukaryotes have polycistronic mRNA? What is the function of JAK2? CYP2E1 is zero-order kinetcs for:

In patients with renal or hepatic impairment, does the loading or mateinence dose change? Which coronary arteries supplies the cardiac papillary muscles? What can cause a U wave on EKG? Why are watershed areas susceptible to ischemia? what tissues get pale infarcts? What is Heyde's syndrome? Why isn't atrial repolarization shown on an EKG? What effect does ANP have on renal aterioles? What is the difference between the carotid body and carotid sinus? what is amarouex fugax? What is the best indicator of the severity of mitral stenosis? What is the single bigest risk of intimal tears in the aorta? What immune cell provides the major stimulus needed for atherslerotic plaque development? What is the most common congential heart malformation associated with turners disease What is the most common cause of aortic stenosis? What labs must be checked when giving amioderone? What explains amioderones multi-class action? What is medial degeneration? Where is most common ectopic thyroid site? why? Contrast physical exam of persistent thyroglossal duct cyst to a branchial cleft cyst. What chemical determines fetal lung maturation and surfactant production? What is the most common tumor of adults and children in the adrenal medulla? how do they relate to hypertension? what is is the posterior pituitary derived from? what about the anterior? What do alpha, beta, and gamma cells secrete in the pancreas? what cell types are insulin independent? describe function of GLUT1, GLUT2 and GLUT4: What causes increased insulin release in normal physiology?

whar causes decreased insulin release in normal physiology? Why do RBCs always depend on glucose? How does prolactin inhibit spermatogenesis and ovulation? What is the function of cortisol? What is the source of PTH? Where does vitamin D3 come from? What about D2? Where is calcitonin made? What are the 4 functions of T3? in men, increased SHBG leads to what? in women, decreased SHBG leads to what? Where is most t3 formed? What is the wolf-chaikoff effect? What converts t4 to T3? What enzyme is responsible for oxidation and organification of iodide aswell as formation of MIT and DIT? What is a difference in the mechanism of PTU and methimazole? What is waterhouse friderichsen syndrome? what are the signs of episodic hyperadrenergic symptoms associated with pheochromocytoma? Why must alpha blockers be given BEFORE b-blockers before pheochromocytoma surgery? What is jod-basedow phenomenon? lymphoma is associated with what thyroid condition? What is psuedohypoparathyroidism? findings? compare treatment for nephrogenic diabetes insipidus and central DI. What is sheehan's sydrome? insulsin is ALWAYS required in what types of diabetes? Why does carcinoid syndrome NOT occur if the tumor is limited to the GI tract? What is th rule of 1/3 with carcinoid tumors? What is the pathology seen with Zollinger-ellison syndrome? What is the treatment stratergy in type 1 DM?

What is the treatment stratergy in type 2 DM? Renal amyloidosis will be positive for what test? How does C-peptide relate to insulin? what is the best lab test to confirm menupause? What is myasthenia gravis associated with? What is Lambert-eaton myasthenic syndrome associated with? What bone cell are PTH receptors found? Myasthenia Gravis is associated with what? What are the 5 P's seen in cretenism? What is the tuberoinfundibular pathway? What genes are altered by PPAR-Y? What relationship does magnesium have on PTH? What is the difference between apoplexy and sheehan's syndrome? What causes permanent central DI, posterior hypophysis damage or hypothalamic damage? What are the amyloid deposits in DM type 2 pancreatic B islet cells made of? What is the most likely cause of death in diabetes? What is the difference between DIL and systemix lupus? What are the derivatives of the: foregut, midget, and hindgut? abdominal wall, rostral fold closure failure results in: abdominal wall, lateral fold closure failure results in: abdominal wall,caudal fold closure failure results in: What is the difference in pathology between duodeinal atresia and jejunal, ileal, or colonic atresia? Give difference between gastroschisis and omphalocele. Congenital pyloric stenosis occurs most often in who? What is an annular pancreas? what are the bed sequalue of one? What causes pancreas divisum? What sturcture does the spleen rise from? What about the pancreas?

What structures are contained in the retroperitoneum?

What are the layers of the gut wall? Describe difference between an ulcer and an erosion in the digestive tract. Where are meissner's and auerbach's plexuses located? What are the frequencies of basal rhythm in the: stomach, duodenum, ileum? What causes superior mesenteric artery syndrome? What is a surgerical treatment for protal hypertension? What the pectinate line? What are the 3 liver zones? which is affected by viruses? which is sensitive to toxic injury? What must a gallstone reach to block both bile and pancrastic ducts. Tumors in what part of the pancreas are most likely to obstruct the common bile duct? Describe the organization of the femoral vessels. What is contained in the femoral triange? what are the borders? What runs in the femoral sheath? what important structute does not? What is hasselbach's triangle? What type of hernia goes through it? Can atropine block parietal cells? what aout G cells? What are brunner's glands? what are their purpose? when do they hypertrophy? Where is iron absorbed? Where is folate absorbed? Where is B12 and bile acid absorbed? What is the rate limiting step in cholesterol degredation? what occurs if it is messed up, what drugs cause this? What are the funcitons of bile: What is the bodies only way of eliminating cholesterol? What causes GERD? What are the 3 organisms that cause esophagitis? describe gross path. What is boerhaave syndrome?

what is plummer-vinson syndrome? pancreatic insufficiency leads to malabsportion of what vitamins? Celiac sprue is related to what HLA? What antibodes are found in celiac sprue? Which is used for screening? What is curler's ucler? What is cushing's ulcer? What is the difference between type A and type B gastritis? which is most common? Which stomach cancer is associated with H. Pylori? What causes appendicits? What are the five 2's of Meckel's diverticulum? Ishcemic coloitis most commonly occurs where? What is familial adenomatous polyposis? What is Gardner's syndrome? What is Turcot's syndrome? what is hereditary nonpolyposis colorectal caner (or lynch) syndrome? What are the risk factors for colorectal cancer? What is the order of pathogenesis of colorectal cancer? What are the most common site of carcinoid tumors? What are the aminotransferase (AST and ALT) markers for? What is alkaline phosphastase a marker for? what is gamma-glutamyl transpeptidase a marker for? what is amylase a marker for? what is lipase a marker for? What is ceruloplasmin a maker for? Aspirin is avoided in kids EXCEPT when? Is hepatic steatosis reversible? What is associated with hepatocellular carcinoma? What lab is increased specific to HCC? What is a cavernous hemangioma? what is contraindicated in it? What is a hepatic adenoma? what is a angiosarcoma?

What is the classic triad of hemochromatosis? What genes are associated with hemochromatosis? What are the causes of acute pancreatitis? What lab has the highest specificity for acute pancreastitis? What causes a pancreatic psuedocyst? why is it dangerous? What are the major causes of chronic pancreatitis? What are the risk factors for pancreatic adenocarcinoma? What is Trousseau's syndrome? Duodenal ulcers are at risk for perforating what artery? Villous adenomas may secrete what into stool? Is ascites common in portal vein thrombosis? Why? How is most copper excreted? What can be used to determine if a high alkaline phosphatase is due to a bony cause or a hepato-billiary cause? An ulcer found in the distal duodenum or an typical place (not stomach but in GI system) is suspicious for..? What is the difference between Auerbach's and Meissner's plexus? What is the syndrome causes by VIPomas? What is the rate limiting step in bile synthesis? What are the symptoms of whipple's disease? What is angiodysplasia? What is the most common malignancy in the small intestine? What is the treatment for neonatal jaundice? activation of what pancreatic enzyme causes acute pancreatitis? What are lab predictors of liver failure? What are signs of ACUTE hepatitis? Sudan III stain is used for what? The hindgut descends along what artery? What is biliary sludge?

What forms brown and black gall stones? How do gallbladder infections cause a rise in levels of indirect bilirubin? what is the mechanism of kidney stones in crohns? What urine metabolite is high in carcinoid syndrome? What syndrome can cause right side of the heart only endocardial fibrosis? What is the most common outcome of HCV infection? What activates trypsinogen? Colonic polyps over what size are likely to progress to adenocarcinoma? What is special about ulcerative colitis associated CRC? What are the differences between direct and indirect billirubin? Where are squamous cell esophageal cancers found? what about adenocarcinoma? What are the common causes of acute pancreatitis? What are the casues of eosinophilla? What is anisocytosis? what is poikilocytosis? What are platelt's derived from? what are in alpha granules and dense granules in platlets? platlet dysfunction results in: What is the vWF receptor? what about fibrinogen? What is a normal WBC differential? What is contained in neutrophil granules? What do azurophilic (lysozyme) granules contain? What is CD14 a cell maker for? Macrophages differentiate from what other cell? What do eosinophils produce that limits mast cell degranulation? What do basohil granules contain? What is the universal donor of plasma, the universal donor to RBCs and universal recipient of plasma? What DECREASES ESR? Basophillic stippling of RBC's is seen in what diseases? What dieases cause target cell RBC's? What causes basophillic stippling in RBCs? what causes an elliptocyte RBC?

what causes a macro-ovalocyte? what causes ringed sideroblasts? what causes schistocytes and helmet cells? what causes spherocytes? what causes teardrop RBCs? what causes target cell RBCs? What causes heinz bodies? What causes howell-jolly bodies? What are the iron labs in iron deficiency anemia? What are the iron labs in chronic disease? what are the iron labs in hemochromatosis? what are the iron labs in pregancy/ OCP use? What are the cis/trans deletions in alpha-thallessemia? How does lead poisoning decrease heme synthesis? What are the signs of lead poisining?

What are the hereditary and reversible causes of sideroblastic anemia? What is the treatment for sideroblastic anemia? Describe difference in labs between folate defiecency and B12 deficiency. What is the difference between the PT and PTT test? Reed sternburg cells are positive for: Who is leukemoid reaction and CML differentiated?

What is "blast crisis" what is the difference between vinca alkoloids and paclitaxel? Leukemoid reaction results in what? Deficiency of CD 55 and CD 50 is diagnostic of what? Why is hypocalcemia seen after massive blood transfusions? Why does vWF defiency cause prolonged PTT? What factors does antithrombim inhibit?

What effects do kallikrein and ACE have on bradykinin? B-thallesemia is cause by mutations in what? Waht is the most common bleeding disorder? What is the most common cause of hypercoaguability in white people? ALL is often positive for what markers? Hairy cell Leukemia is positive for what? what is treatment? What are auer rods made of? Langerhan's cell histiocytosis express what markers? What can cause inappropriate absolute polycythemia? How does abetalipoproteinemia cause acanthocytes? In what diseases is HbA2 increased? Cachexia is caused by what? Antiphospholipid is associated with what? How does splenic dysfunction result in decreased encapsulated organism fighting? What is the only lymphocye member of innate immunity? What is Anergy? For what diseases are people given preformed antibodies? What are the 4 T's of type IV hypersensitivity? Which hypersensitivty reactions involve antibodies? What immunological disease is associated with false pregnancy tests? What are the signals for leukocyte migration from blood into interstituim? Which is usually more prognostic, stage or grade? What part of lymph node becomes massive during an infection? What cytokines enchance macrophage activity? B cells mediate what immune reactions? T cells mediate what immune reactions? What are the only cell types that can activate naive T-cells? What CD do regulatory(not helper or cytotoxic!!!) T cells have? What cytokines do they make? Mature lymphocytes carry what Ig on their surface? What are the markers for NK cells? When are preformed antibodies given? What is serum sickness?

What happens if you give someone with IgA defieicny a tranfusions of normal blood? What cytokines mediate cachexia? What three cytokines mediate the systemic inflammation response? Coldaggulintins are seen in what organism. They are responsible for what? What infections are associated with Reiter's arthritis? During what stage of infenction can pertussis infection be treated with antibiotics? How is Bartonella Hensalae differentiated from Kaposi Sarcoma? Where are negri bodies typically found? what groups have a high mortality from HEV infection? During the latent phase of HIV where does the virus replicate? What is the specific receptor needed for parvovirus B19 to infect? Mucucarmine stain is used to detect what organism? Why is FTA-ABS not useful for recurrent syphillis infections? what is the most common cause of shigelliosis? what is the only way to diagnose tetanus exposure? C. Perferingens has what toxin? It destroys what? Why does intraparrum HBV infection cause only mild liver injury? waht bacteria form "serpentine" or "medusa head" chains on culture? what causes hemorrhagic mediastinis? What stops local fungal spread? what about hemotagenous? What is the most specific lab for legionella pneumonia that differentiates it from other pneumonia? What is the difference between adult botulism and infant? What viruses have a nuclear membrane envelope? what most occur in HIV lifecycle for mRNA to be made? What is prophylaxis to prevent MAC in HIV patients? What is the most common cause of VIRAL meningitis? What is the Reiter's syndrome triad?

What is McCune-Albright syndrome?

Pannus in a joint is associated with what? What are heberden and bouchard nodules? What are the genetic finds in RA? What is the difference getween gout crystals and psuedogout? What causes osteonecrosis? What is hypercalcemia found in Sarcoidosis? What is CREST syndrome What is lesler-trelat sign? What is Nikolsky's sign? What is toxic epidermal necrolysis? What is Acanthosis Nigricans associated with? What is the difference between staph scalded skin syndrome and toxic epidermal necrolysis? What causes hairy leukoplakia? What is squamous cell carcinoma of the skin associated with? Compare femur and tibia insertions for PCL and ACL (medial or lateral?) What nerve fibers are tested on DTR testing? In what layer of epidermis are desmosomes, keratin, and stem cells found? What do the dorsal and palmar interosseous muscles do? What are the risk factors for osteoporosis? How does bone density relate to BMI? What virus can present like RA? How are they differentiated? What is a major cause of osteopetrosis? What bone disease can cause high output cardiac failure? What are the labs for osteoclast activity? What translocation is associated with Ewing's Sarcoma? What are the risk factors for osteosarcoma?

Why do gout attacks occur more after etoh/fatty meals? What is the symptom difference between gonococcal arthrirtis and destructive infectious? What are the two microscopic changes seen in psoriasis? What is the difference between intradermal nevi and junctional nevi? What are the epidermal layer changes in psoriasis? What are target lesions associated with? What is erythema nodosum associated with? What is lichen planus associated with? What is pityriasis rosea associated with What is the difference in UVA and UVB damage? How does acetaminphen cause hepatic necrosis? What is auspitz sign? What artery is most often severed in hip fractures? PABA-sunscreens protect against what rays? What is the primary abnormality in paget's disease? What is the spinal N for umbillicus, nipples, and anus? Injury to what nerve causes the tredelenburg gait? In between what ribs should thoracentesis be done to prevent lung damage? What induces ectoderm to differentiate into neuroectoderm? What does neural plate give rise to? What do the alar and basal plate become in CNS development? What is the embyronic structure that failes to fuse that causes neural tube defects? After an aminotic or materal serum a-fetoprotein is detected, what is the confirmatory for neural tube defects? Describe difference in spina bifida occuta, meningocele, and meningomyelocele. What is anencephaly in utero associated with? What is holoprosencepahaly? What is a chiari II(arnold-chiari) malformation? what is a dandy-walker malformation? What is a chiari I malformation associated with?

What embryologicaly structute do microglia come from? What is nissl substance? each oligodendrocyte myelinates how many axons? how about schwann cells? what cells are destroyed in mulitiple sclerosis? What cells are destroyed in Gullain-Barre syndrome? Describe 3 layers of peripheral nerve.

What is the limbic system responsible for? lateral cerebellar injury causes: medial causes: What are the 2 major pathology changes in parkinsons? Compare damage ro paramedian pontine reticular formation to frontal eye fields. Damage to hippocampus results in? what are the signs of central pontine myelinolysis? What is Kluver-blucy syndrome and what is it associated with? What parts of brain are more vulnerable to hypoxia? Give time course of irreversible neuronal damage. What vein can infect spread from the face to the brain? Primitive lesions reemerge after what kind of lesion? What is medial medullary syndrome? Nucleus ambigous lesions are specific to what artery? Where are most Charcot-bouchard microaneurysms? differntiate lower motor neuron injuries from upper. Poliomyeltis and Wednig-horrman disease specifically destroys: How does b12 degerneration differ from tabes dorsalis? What is werdnig-hoffman disease: Where does spinal cord damate have to occur to cause Horner's syndrome? compare superior colliculi to inferior culliculi. What is perinaud syndrome? What is the only cranial nerve WITHOUT thalamic relay to the cortex?

What does nucleus Solitarius control? What does nucleus aMbiguous control? What does dorsal motor nucleus control? How do you tell if a facial nerve palsy is UMN or LMN damage? What is cavernous sinus syndrome? What nerves lay in the cavenrous sinus? HPV proteins E6 and E7 have what functions? Koiliocytes are associated with what infection? In CN V3 motor injury, what is the physical defect? In a CN x lesion, what is the motor deficit in the mouth? What is the motor deficit in CN XI lesions? What is the motor deficit in CN XII lesions? Compare Rhine and weber test for conductive and sensineural hearing loss What produces aqueous humor? what collects it? What is closed/narrow angle glaucoma? what are the two types?

What drug should NEVER be given in acute closed angle glaucoma? why? People with CN IV injury have trouble doing what specific action? Cranial nerve III carries what two types of components? Retinal detachment is associated with: What is age related macular degenation? What are the alzheimiers onset/protection genes? What is Charcot's triad of MS? What is the pathophysiology of neurodegernation in Krabbe's disease? People with defects in Ryanotidine are prone to get what crisis? What is Lhermitte's sign? What causes it? What are the 4 causes of night blindness?

What causes extraocular eye movements during REM? What does NF1 and NF2 encode (they are different?) What causes hemiballism? what is the only cranial nerve that originates outside of the skull? What four symptoms can accompany bells palsy? What is meniere's disease? How is vascular dementia differentiated from alzheimers? What is the area postrema and where is it located? What 2 tumors are S100 positive? What are neurofibromas made of? Where are neurons lost from in huntington's disease? How do you cause severe wenicke encephalopathy when intiailly treating a patient? Holoprosencephaly is caused by a defieincy in what pathway? What nucleus makes ADH? Which makes oxytocin? What causes neuronal death in Huntington's disease? Damage to arcuate fasciculus causes what? How does normal pressure hydrocephalus cause its clinical triad? How does SCM turn the head? What is a familal mutation that can lead to ALS? vitamin E defieicny closely mimics what disease? What are the risk factors for open/wide angle glaucoma? What is a marcus gunn pupil? Where are MS plaques often found? Where do most partial seizures originate? Which atypical antipsychotic is most likely to cause EPS? What vitamin MUST be avoided in levodopa users? Why do people pass out during panic attacks? What causes Akathisia? Psammoma bodies are found in what pathology?

What is classical conditioning? what is operant conditioning? What is excition (psych) What is transference? what is countertransferance? What are ego defenses? What is dissociation? compare displacement to projection compare fixation to regression what is identification (psych) what is isolation of an affect? what is rationalization? compare reaction formation to sublimination

What are the mature defenses? What are effects of infant deprivation? Infant deprivation can be irreverisble after how long? Who is usually the abuser in child abuse? How often does ADHD continue into adulthood? What physical change is ADHD associated with? What is conduct disorder? what is oppositional defiant disorder? When does tourette's onset? how long does it need to persist before dx? what is it associated with? when does seperation anxiety disorder onset? what is the largest difference between austism and asperger's disease? what is Rett's disorder? what is childhood disintegrative disorder? neurotransmitter change in anxiety: neurotransmitter change in depression: neurotransmitter change in alzheimer's: neurotransmitter change in huntington's disease

neurotransmitter change in schizophrenia neurotransmitter change in parkinson's disease order of loss of orientation: what is a hallucination? what is a delusions what is disorganized speech? visual hallucinations are likely: auditory hallucinations are likely: olfactory hallucinations are likely: tactile hallucinations are likely: when do hypnagogic hallucinations occur? when do hypnopompic hallucinations occur? How long must psychosis last before schizophrenia can be diagnosed? Diagnosis of schizophrenia requires 2 of the following: What are the 5 subtypes of schizophrenia? Patients with schizophrenia are at increased risk for: does schizophrenia present earlier in males or females? What is a brief psychotic disorder? What is schizophreniform disorder? What is schizoaffective disorder? What is a delusional disorder? What is a shared psychotic disorder? What is dissociative identity disorder? What is depersonalization disorder? What is a dissociative fugue? Diagnosis of a manic episode requires atleast three of the following: What is a hypomanic episode? How is bipolar disorder? What is a cyclothymic disorder? What is major depressive disorder? how do you diagnosis it?

What is dysthymia? Who has a higher lifetime incidence of major depressive episode, male or females?

What is the most common type of depression? What are the 3 postpartum modd disturbances? treament for each. When is electroconvulsive therapy used? side effects of treatment? What are the risk factors for suicide?

who attempts suicide more often? who succeds more often? How is panic disorder diagnosed?

What is the difference between acute stress disorder and PTSD? What is the different between GAD and adjustment disorder? What are somatoform disorders? What is conversion disorder? what is body dysmorphic disorder? What is the difference between malingering and a factitous disorder? What are the cluster A personality disorders? What are the cluster B personality disorders? what are the cluster C personality disorders? what are the stages of overcoming substance addiction? What are mallory-weiss tears? What is neuroleptic malignant syndrome? What is the treatment? What is tardive dyskinesa? Is it reversible? What is serotonin syndrome? what is the treatment? Delirum tremens usually occurs how often after the patients last drink of alcohol? How is it treated? Depressed people have have sleep pattern?

What are the ECG changes between delirium and dementia? What are the two types of emphysema? Why do people with emphysema exhale through pursed lips? What disease is associated with curschman's spirals and leyden crystals? inhale to exhale ratio changes how in asthma? Antracosis, silicosis, and asbestosis all increase risk for what other diseases? Calcified pleural plaques are pathonomic for what? Are they precancerous? What lechitin:sphingomyelin ratio is predictive of neonatal respiratory distress? neonatal therapuetic oxygen can result in what negative outcomes? What are th risk factors for neonatal respiratory distress? What is the treatment for neonatal respirtatory distress syndrome? the initial damage to lung sin ARDS is due to what? Obstructive lung disease has a FEV1/FVC of what? Restrictive lung diseases has an FEV1/FVC of what How does sleep apnea relate to RBC formation? contrast tension pneumothorax to spontaneous pneumothorax. What cancer is the leading cause of cancer death? what are lung metastases sites? what the the classic lung cancer complications? Which lung cancers are peripheral? which are central? what organisms cause lobar pneumonia? what organisms cause interstitial pneumonia? Hypersensitivity pneumonitis is caused by what type of hypersensitivty reaction? Allergic rhinitis is due to what type of hypersensitivity reaction? What is the triad of aspirin-intolerant asthma?

must suspect what disease in a child with nasal polyps? angiofibroma(presentation,age group) Nasopharyngeal carcinoma(presents, pathology) What are the risk factors for laryngeal carcinoma? what organims cause bronchopneumonia? How does TLC change in obstructive lung disease? Panacinar emphysema is most severe in what lobes? What about centroacinar? A1-antitrypsin deficiency is associated with damage to what two organs? Allergic bronchopulmonary aspergilliosis(pathophys, associations) honey comb lung pathology is associated with what? hyaline membranes in the lungs are associated with what? what levels increase as surfact is produced in the neonate? hypoxemia in the neonate increases risks of devleoping what? diaphram is inervated by what cervical levels? What are the muscles of inspiration during exercise? what are the muscles of expiration during exercise? What causes right shift on the oxygen-hemoglobin binding curve? What gases are perfusion limited? what gases are diffusion limited? Carbon dioxide is transported to the lung in mostly what form? What does an increased RV/TLC ratio indicate? Chronic rejection of lung transplants results in what lung change? Most of the blood supplied by bronchial arteries is returned to the heart how? What is the function of clara cells? at FRC, what are airway and alveolar pressure? what about intrapleural? What causes primary pulmonary HTN? In CF, what is the primary problem with the protein? How does glucose and amino acid clearance change in normal pregnancy?

What causes increased anion gap in metabolic acidosis? what causes normal anion gap metabolic acidosis? what causes respiratory acidosis? what causes metabolic alkalosis? granular, muddy brown casts are associated with what? hyaline casts are associated with what? List 4 things found in nephrotic syndrome. list associations with nephritic syndrome What is the most common type of kidney stone? Renal cell carcinoma mets to where? What is the most common renal cancer of childhod? What are the risk factors for transitional cell carcinoma? What is the most common cause of intrinsic renal failure? What are the 3 stages of acute tubular necrosis? Acute tubular necrosis is associated with what? What is renal papillary necrosis associated with? Can postrenal azotemia occur unilaterally? What are the 2 forms of renal failure? ADPKD is associated with? What are the toxicities of ACE inhibitors side-effects of lithium What is the most common site of obstructive in the fetus? What does the mesonephros become? What are the causes of potter sydrome? How does horseshoe kidney form? what is it associated with? Plasma volume is measured with what? What about ECF volume? Why is inulin used to estimate GFR? why is PAH used to estimate ERPF? What is the formula for filtration fraction? what affect do prostaglandins have on the afferent arteriole? what affect does angiotension II have on the efferent arteriole?

At what plasma glucose are all glucose transports saturated in the kidney? ADH primarily regulates what? aldosterone primarily regulates what? What affect to B-blocks have at the juxtatomegular apparatus? What are the endocrine functions of the kidney? What causes K shift OUT of cells? Describe high vs low Ca serum concentration describe low vs high K serum concentration findings describe low vs high Mg serum concentration findings describe low vs high PO4 serum concentration findings compare K changes in types 1, 2, and 4 RTA What do muddy brown, granular casts indicate? does painless hematuria, no casts indicate a renal or bladder source? are WBC casts indicative of pyelonephritis or cystitis? What are hylaine casts specific for? What are fatty casts specific for? Focal segmental glomeruosclerosis is associated with what? What are kimmel-wilson lesions specific for? Renal cell carcinoma originates from what cells? RCC can cause testicular varoceole on only which side? What is the WAGR complex? What is the most common childhood renal malignancy? Transitional cell carcinoma of the GU system is associated with what? In what phase does death usually occur during acute tubular necrosis? Renal papillary necrosis is associasted with: why is bun creatine serum ratio useful? uremia causes: ADPKD is associated with? What segement of collecting tubules does ADH work on? How does hypercalcemia affect renal concentrating abilities?

What is the mechanism of lithium causes diabetes insipidus? What test is used to detect cysteine in the urine? Which kidney is used for renal transplant? why? What are JG cells? Macula densa? In amyloidosis of the kidney, where is amyloid typical found? What paraneoplastic syndromes are associated with RCC? Wilm's tumor is associated with what gene? Why is BUN resorbed in the kidney? Increase in ADH causes a decrease in what compound in the urine (not water..) What is the function of sertoli cells?

What is usedas an ovarian cancer maker? What is the most important risk factor in ovarian cancers? What is Meig's syndrome? DES exposure in utero is a risk for what? What are the most common gynecologic tumors? what are the worst prognosis? Breast milk from women with a health diet have all nutients EXCEPT what, which need supplement? What is the triad of pre-eclampsia? What is eclampsia? What causes intraventricular hemorrhage and what increaes incidence of it? women with PCOS are at an increased risk for developing what? Where does nonenzymatic fat necrosis occur? What is the cause of congenital torticollosis? What is the most common congenital deformity associated with imperforate anus? What are the risk factors for cervical cancer? How does valproate causes teratogenic effects? What is treacher-collins syndrome? What is mittelschmerz? Barr body is present in what syndrome? Can XYY people reproduce? What are typical traits?

What is the difference between adenomyosis and endometriosis? Why is varicocele more common in the left testicle? List mesoderm defects: Difference between malformation, deformation, and disruption? Valproate causes what embyonic defects? List androgen potency List potency of estrogens. where are they made? During what tanner stage is the maximal growth spurt? What stages do eggs complete replication? What does human placental lactogen do? What causes mortality in HELLP? What is an idicator of ectopic pregnancy, via lab? What is the MOST effective preventive intervention leading to reduced mortality?

probabilty that a test detects a disease when disease is present. TP/(TP+FN) probability that a disease non-disease when disease is absent. TN/(TN+FP) low false negative rate, good for screening disease with low prevelance low flase positive rate, good for confirmatory test after a positive screening test. compares group of people with a disease to a group without the disease. Measures odds ratio. compares a group with an exposure or risk to a group without it. Measures relative risk. collects data from a group to assess frequency of a disease in a population. Measures prevalence. double = patients and doctors don't know, triple = even researchers analyzing data don't know small number of healthy people, assess safety,toxicity, and pharmokinetics small number of people with the disease studied; assess efficacy, dosing, and adverse effects large, randomly assigned groups. compares standard of care to new treatment. postmarketing surviellance, looks for longterm adverse events. proportion of positive tests that are a true positive. TP/(TP+FP) proportion of negative tests that are a true negative. TN/(FN+TN) incidence = new cases, prevalence = all currents cases used in case-control studies. odds that a group with a disease was exposed to a risk. used in cohort studies. risk of developing a disease if exposed to a risk. proportion of disease occurences cause by an exposure. absolute reduction in risk between treatment group and a control group. number of patients needed to treat for 1 patient to get a benefit. 1/ARR number of patients needed tobe exposed to a risk in order to get it. 1/attributable risk. reproducability vs trueness of result

reduces precision of a test by increasing precision. reduces accuracy in a test. nonrandom assignment to a group. knowledge of presence of a disease alters recall of subjects; common in retrospective. subjects are not representative of the general population - is a selection bias information gathered at inapporiate time subjects in different groups are not treated the same occurs when a factor is related to both exposure and outcome early detection confused with increased survival. when researchers belief in the efficacy of a treatment alters treatment changes group being studied changes behavior because they know they are being studied. 1.blind studies. 2.placebo groups. 3.crossover studies. 4.randomization limits selection and confounding bias 5. matching to reduce confoudning bias. mound to the left, tail to the right mean>median>mode. mound to the right, tail to the left. mean<median<mode. stating there is an effect when there isn't one stating there is not an effect when one does exist (to fail to reject the null hypothesis) probability of rejecting null hypothesis when it is false. increases with: larger sample size, large expected effect size, increased precision of measurement. range of values in which a specificed probability of means would expected to fall. comparing difference of means in 2 groups. check differences of means in 3 or more groups. check differences in 2 of more percentages or proportions, NOT MEANS.

r is between -1 and +1. closer to 1 the stronger the linear correlation between 2 variables. PDR Prevent(vaccines), Detect(pap smear), Reduce disability(chemotherapy) medicarE = elderly, medicaiD = destitute. done at 1min and 5min. appearance, pulse, grimace, activity, respiration. >7 is good, <4 means resuscitate! <2500g. increased risk or SIDS and increased overall mortality. rooting reflex,head up,moro reflex gone;smile;orient to voice. sits alone,crawl,transfer toys in hand;stranger anxiety;responds to name, instructions,peekaboo. climb stairs, stack blocks by agex3 blocks;rapprochment of mom;200 words and 2 word phrases by 2 feeds self,kick ball;core gender identity,parallel play;pee at age 3 ride tricycle,copy circle;spends part of a day away from mom;900 words and complete sentences uses zippers,grooms self,can hop on 1 foot;imaginary friend,cooperative play;can tell detailed story turn head to stimulus and make sucking face for nipple kid startled by being dropped tickle foot, toe goes up. not normal after age 2 weight in kg/(height in meters)^2 after 1 year. mean = average, mode = most often occuring, median = middle of all values When the effect of an exposure changes the outcome. This is not a bias. cotinine levels inability to convert orotic acid to UMP due to defect in UMP synthetase; increased orotic acid in urine,megaloblastic anemia that isn't improved by B12, failure to thrive,no hyperammonemia;oral uridine administration. Excess ATP and dATP via inhibition of ribonucleotide reductase->prevents dna synthesis and decrease lymphocyte count causing SCID.

defective purine salvage pathway due to absence of HGPRT; excess uric acid leads to retardation,self-mutilation,hyperuricemia,gout,choresoathetosis. nonhomologous end joining, which repairs dsDNA breaks. nucleotide excision repair, which releases damaged bases neurons, skeletal and cardiac muscle, RBCs hepatocytes,lymphocytes bone marrow, gut epithelium,skin,hair follicles,germ cells inclusion cell disease, failure of addition of mannose-6-phosphate to lysosome proteins which leads to lysosomal storage disease(proteins never added to lysosome);coarse face,clouded cornea,high plasma levels of lysosomal enzymes. mutation in lysosomal trafficking regulator gene (LYST), microtubule sorting does not occur;recurrent pyogenic infections,partial albinism,peripheral neuropathy. connective tissue muscle epithelial cells neuroglia neurons bone,skin,tendon,dentin,cornea,late wound repair;defective in osteogenesis imperfecta. Cartilage(hyaline),vitreous body,nucleus pulposus) reticuin,skin,blood vessels,uterus,granulation tissue,fetal tissue;Ehler's danlos basement membrance and basal lamina;alport sydrome Fibrillin(found in elastin) paternal allele on chromosome 15 is not expressed;mental retardation,hyperphagia,obesity,hypogonadism,hypotonia Inactivation of mother's allele on chromosome 15; mental retardation,seizures,ataxia,inappropriate laughter Autosomal dominant. defect in fibroblast growth factor(FGF)receptor 3.;Dwarfism,short limbs,larger head but normal trunk.assoc with advanced paternal age. Autosomal dominant;mutation in PKD1, chromosome 16;bilat. massively enlarged kidneys, multiple huge cysts. assoc w/polycystic liver dx,berry anerusyms,mitral valve prolapse. polycystic liver disease, berry aneurysms, mitral valve prolapse. autosomal dominant;mutation on APC gene. chromosome 5;colon covered in polyps after puberty. autosomal dominant;inherited disorder of blood vessels;telangiectasia, recurrent epistaxis, AVMS, skin discolorations. autosomal dominance;spheroids due to spectrin or ankyrin defects;hemolytic anemia, increased MCHC, need spleenectomy to cure. autosomal dominant;CAG trinucleotide repeat gene on chromosome 4;depression,caudate nucleus atrophy,chorioform movements,decreased levels of GABA and Ach in the brain. autosomal dominant;mutation in long arm of chromosome 17;cafe-au-lait spots,neural tumors,lisch nodules, optic gliomas.

autosomal domaint;NF2 gene on chromosome 22;bilateral acoustic schwannomas, juvenile cataracts autosomal dominant;facial lesions,hypopigmented ash leaf spots,cotical and retinal hamartomas,seizures,cardiac rhabdomyomas,increased incidence of astrocytomas. autosomal dominant;deletion of VHL gene(a suppressor) on chromosome 3 which results in constitutive expression of HIF and increased angiogenic factos;hemangioblastomas,bilateral multiple renal cell carcinomas. autosomal-recessive;defect in CFTR on chromosome 7. CFTR is a calcium channel;meconium ileus in newborns,bronchiectasis,pancreatic insufficiency,nasal polyps,intertility in males due to missing vas deferns. increased calcium concentration in sweat (calcium channel can't resorb in skin. Note: in lungs this channel is supposed to EXCRETE calcium). X-linked;defect in methylation of FMRI gene,is a CGG trinucleotide repeat;mental retardation,macroorchidism,long face and jaw,everted ears,autism, mitral valve prolapse. X-linked frameshift;deletion of dystrophin gene leads to accelerated muscle breakdown;pseudohypertophy of calf,pelvic and girdle muscle weakness at first,onset before 5, use gowers manuever. longest gene in the human genome, anchors muscle fibers. decrease a-fetoprotein,estirol. increased B-HcG, inhibin A. decreased: a-fetoprotein,BHcg, estriol. normal: inhibin A. decreased: B-HcG, PAPPa and increased:Nuchal translucency. congenital microdeletion of short arm of chromosome 5;microcephaly,mental retardation,mewing sounds,epicanthal folds,VSD. congenital microdeletion of long arm of chromosome 7,region deleted contains elastin gene;elfin facies,intellectual disability,extreme friendliness. ADEK. dependent on ileum and pancreas, tend to accumulate in fat more. visual pigments(retinal),essential for epithielial ceel differentiation,prevents squamous metaplasia, used in measles and AML type M3 tx; night blindness, dry skin;arthralgias,fatigue,alopecia,teratogenic! thiamine pyrophosphotase part of: pyruvate DH,A-ketoglutartate DH,trasketolase,branchedamino acid DH; defiency causes wernicke-korsakoff, berberi, low ATP. B1(thiamin) defienceincy;confusion, opthalmoplegia,ataxia,confabulation,permanent memory loss,damage to medial dorsal nucleus of thalamus, mammary bodies. low B1(thiamin); polyneuritis, symmetrical muscle wasting high output cardiac failure(dilated cardiomyopathy), edema. cofactor in ox/redux reactions, make FAD and FMN; Cheilosis(inflammation and scaling of lips, corner of mouth), corneal vascularization (2C's of B2) made from tryptophan, makes NAD. synthesis requires B6!;Glossitis,pellagra(diarrhea,dementia,dermatitis); excess = facial flushing.

1. hartnup disease (decreased tryptophan absorption) 2.Malignant carcinoid syndrome(increased tryptophan metabolism) 3. INH (decrease B6). All lead to pellagra. Essential part of CoA and fatty acid synthase; dermatitis,enteritis,alopecia,adrenal insufficiency. converted to pyridoxal phosphate which transaminates ALT and AST,synthesizes heme,niacin,histamine,serotonin,epinephrine,norepi, GABA.;convulsions,hyperirratability,peripheral neuropathy,sideroblastic anemia due to increased heme production. cofactor for carboxylation enyzmes(pyruvate carboxylase,acetyl-Coa carboxylase,PropionylCoA carboxylase.;very rare, dermatitis,alopecia,enterisis. can be caused by antibiotic use or raw egg overconsumption. converted to tetrahydrofolate, makes nitrogenous bases for RNA and DNA; small pool in liver, macrocytic,megaloblastic anemia, common in alcoholism and pregnancy. cofactor for homocysteine methytransferase and methylmalonyl-CoA mutase, very large reserve pool in liver that takes years to use; macrocytic,megalobastic anemia, hypersegmented PMNs,neurologic symptons. B9(folic acid) -> no neurologic symptoms. most common type, very small reserve pool. common in pregnancy and alcoholism. B12(cobalamin)has neuro symptoms. HUGE reserve pool in liver. facilitates Fe absorption, needed to make collagen, also needed to convert dopamine to NE; scurvy-swollen gums,brusing,hemearthrosis,weak immune system;nausea,vomitting,sleep problems, increased risk of iron toxicity. increased intestinal absorption of calcium and phosphate, increased bone minerlization; Rickets in kids, osteomalacia in adults, hypocalcemic tetany; hypercalcemia,hypercalciuria,loss of appetite, seen in sarcoidosis. antioxidant, protects erthrocytes and membranes from free radical damage; increased fragility of erythrocytes, posterior column and spinocerebellar tract demyelination. Catalyzes gamma-carboxylation of glutamic acid residues on clotting factors. needed for 2,7,9,10,C and S.; neonatal hemorrhage but normal bleeding time, need to give injection to newborns. essential for 100+ enzymes;delayed wound healing,decreased adult hair,dysgeudia, anosmia. arginine arginine and aspartate glycine and succinyl CoA glycine + arginine + SAM glutamate glutamate glutamate and aspartate glutamate + aspartate + glycine histidine phenylalanine->tyrosine->DOPA->dopamine tryptophan->serotonin->melatonin tryptophan

tyrosine blue pigment DOESN'T form after adding nitroblue tetrazolium to patient's neutrophils. Does form = no disease. CGG GAA CAG CTG cystic fibrosis 1. DiGeorge - thymic, parathyroid, and cardiac defects. 2. Velocardiofacial syndrome palate,facial, and cardiac defects. X-linked mutation in gene for E1-a-subunit of pyruvate DH, causes backup of pyruvate and alanine, resulting in lactic acidosis; neurologic defects in infant;give Lysine and leucine because they are ketogenically metabolized. defect in fructosuria, autosomal recessive;fructose is high in blood and urine but is a benign disease/ autsomal recessive problem in Aldolase B, F-1-P accumulates, causing decrease in phosphate and then a decrease in glyconeolysis and gluconeogenesis; hypoglycemia, jaundice, cirrhosis; decrease intake of fructose and sucrose. problem in galactokinse, galactitol accumulates if galactose present in diet. autsomal recessive;galactose in blood and urine, infantile cataracts,very mild disease. absense of galactose-1-phosphate uridyltransferase, autsomal recessive, accumulation of toxic galactitol; failure thrive, hepatomegaly, infantile cataracts, mental retardation; exclude galactose and lactose from diet. schweann cells, retina, kidnets. They contain low levels of sorbitol dehydrogenase. sorbitol is osmotically active, causing swelling and damage. x-linked recessive, can't eliminate ammonia. Excess caramoyl phosphate is converted into orotic acid; increased orotic acid in blood and urine, decreased BUN, ammonia overdose. Due to decrease in phenylalanine hydroxylase or tetrahydrobiopterin, making tyrosine essential; increased PKU in urine, mental retardation, musty body odor, growth retardation; screen 2-3 days AFTER birth(mom hides condition), decrease phentlyalanine intake and increase tyrosine intake. problem in homogentistic acid oxidase in the tyrosine degrdation pathway, autosomal recessive; dark connective tissue, brown pigmented sclera, urine turns black in air, homogenistic acid eats cartilage -> artraglia. deficient tyrosinase or defective tyrosinase transporter, can result from lack of neural crest cell migration; lack of tyrosine->lack of melain->no skin color, increased skin cancer common.

3 forms:cystathione synthetase deficiency or decreased affinity for cystathionine synthase for pyridoxial phosphate or homocysteine methyltransferase, all lead to excess homocysteine; increased homocysteine in urine, mental retardation, osteoporosis, tall stature, lens subluxation and atherosclerosis. defect in transporter in renal PCT for cysteine, ornithine, lysine, and arginine; excess cysteine in urine causes hexagonal crystals and renal staghorn crystals; good hydration and alkalinize urine. blocked degradation of Ile, Leu, Val due to deficient a-ketoacid DH; increased ketoacids in blood, causes CNS defects, mental retardation, death. autosomal-recessive disease, defective neutral amino acid transporter in renal + intestinal cells; causes tryptophan excretion and decreased absorption in gut, leading to pellagra. 2 seperate alleles contribute to a a phenotype. example: blid type (a and b). when a phenotype varies among individuals with same same genotype. ex: neurofibromatosis 1. when not all people with a mutant genotype show the mutant genotype. ex: not all people with BRCA1 get breast cancer Gone gene contributes to multiple phenotypic events differences in gene mutations depend on if they are maternal or paternal in origin. whena mutation exerts a dominate effect, like when a heterozygote makes a nonfunctional gene that keeps the normal gene from functioning. Tendency for 2 alleles at 2 linked foci to occur together more often than expected by chance. A person derived from 2 fused zygotes mutations at different loci can make the same phenotype. exp: marfans, MEN2B, and homocystinuria all cause Marfan habitus. albinism, too. presence of both normal and mutated mtDNA resulting in a variable expression mitochondrial disease. offspring recieves 2 copies of a chromosome from 1 parent and none from the other. example: consider UPD when only 1 parent is carrier! 1. no mutation, no selection for any genotypes, random mating, no net migration. hetero = UPD causes by a meiosis I error. iso = UPD caused by a meiosis II or postzygotic duplication. 1. cartilage 2. mucin 3. Mast cell granules pagophobia = wanting to chew on ice. It is specific for iron depletion. poison found in Amanita Phalloides. It blocks DNA-dependent RNA polymerase II, stopping mRNA production. causes diffude hepatic necrosis. Pellagra. There is loss of tryptophan, thus niacin can't be made. cell death due to peroxidation of membrane lipids, causes bleeding and metabolic acidosis. Lack of UV-endonucleases. Can't cut out thymidine dimers. Methylation = inactivates, no transcription. Acetylation = Active, relaxes DNA coil, transcription is a go. Methionine (AUG) and Tryptophan (UGG)

Prevent DNA strands from reannealing poly 1 =makes rRNA, poly II = mRNA, poly III = tRNA. None can proofread! inhibit G1->S transition COP I - retrograde transport and golgi -> er, COPII - anterograde transport and ER -> Golgi, Clathrin - trans-golgi->lysosomes and cell membrane to endosomes. catabolism of very long fatty acids and amino acids. Joint dislocation, easy bruising, berry aneurysms, organ rupture. nephritis, deafness, and ocular disturbances. SNoW DRoP - south -DNA, North - RNA, West - Protein. increased NADH/NAD ratio causes diversion of pyruvate to lactate and OAA to malate, stimulating fatt acid synthesis -> steatosis. Decreased protein = decreased apolipoprotein. lipids not pushed out of liver = steatosis. 1. tyrosinase (can't make melanin from tyrosine) 2. defective tyrosine transporter - decreased levels of tyosine, and thus less melanin 3. lack of neural migration of neural crest cells. In the periplasm, the space between cytoplasmic membrane and outer membrane in Gbacteria. 5'phosphoriboysl-1-pyrophosphate synthetase (PRPP). (delta)F508 releasing factor 1. 1. progessive ataxia in all 4 limbs 2. hypertrophic cardiomyopathy 3. kyphosis, pes cavus, hammer toes 4. DM dysplasia = reversible. Carcinoma - not reversible. A p-glycoprotein, transmembrane ATP-dependent pump that stops import in and increases pumping out of chemo drugs. MDR1 is upregulated in cancer trying to become resistant to chemo. Erthrocyte transketolase. found in phagolysosomes, used to make reactive nitrogen products that destroy bacterias. YES!!! D-glucose sequence in mRNA found only in prokaryotes. It finds to the 16s rRNA. Necrosis and injury. These make Psammoma bodies. Ca from dead cells is released and collected. An accumulation of iron in micelles. Seen in hemolytic anemia. Prokaryotes do (exp: lac operon) eukaryotes hardly ever have more than one protein encoded into an mRNA. It is a non-receptor tyrosine kinase ETOH, Acetaminophen, INH

loading is unchanged, maintence must decrease Anterior = LAD. Posterior = RCA. bradycardia or hypokalemia watershed = fed by distal ends of 2 different arteries. Good if one if blocked. BAD in systemic hypoperfusion. tissues with a single blood supply. include heart, kidney, spleen. induction of a vWF deficiency due to aortic stenosis. Associated with GI bleeding and colonic angiodysplasia. it is masked by the QRS complex dilate afferent, constrict efferent causing an "escape" from aldosterone. body = chemoreceptor (senses decreased pO2 and pH, increased pCO2. sinus = baroreceptor atheriosclerosis at carotid, causes microemboli-> vision loss the shorter the gap between A2 sound and the opening snap, the worse the stenosis. Hypertension platlets bicuspid aortic valve Calcinification of the leaflets, due to age related changes. 1. pft 2. lft 3. tft alters lipid membrane -> acts like all four classes. fragmentation of elastic tissue tongue, foramen cecum connects tongue to pyrimidal lobe of thyroid thyroglossal = midline, moves with swallowing. Brahcial = lateral, doesn't move with swallowing. cortisol adult = pheochromocytoma. kids = neuroblastoma. pheo = episodic hypertension, neuroblastoma doesn't cause this. postier = neuroectoderm. anterior = oral ectoderm (rathke's pouch). alpha - glucagon. beta - insulin. gamma - somatostatin. (BRICKL) brain, renal, intenstine, cornea, kidney, liver 1: insulin dependent - RBC, brain. 2: bidirectiona: B islet, liver, kidney, small intestine. 4= insulin dependent. adipose tissue, skeletal muscle. hyperglycemia, GH, b2 agonists.

hypoglycemia, somatostatin, A2 agonists they have no mitochondria, thay can't do aerobic metabolism it inibits GnRH release. (BBIIG) maintain Blood pressue, decease Bone formation, anti-Inflammatory, increase Insulin resistance, increased Gluconeogenesis. Chief cells in the parathyroid. D3 = sun exposure. D2 = ingested via plants. parafollicular C cells of thyriod. (4 b's) brain maturation, bone growth, beta-adrenergic effects, basal metabolic rate less free testosterone ->gynecomastia more free testosterone ->hirsutism AT the target tissue. excress iodine temporarily inhibits thyroid peroxidase -> decreased iodine organification >decreased T3/T4. 5'-deiodinase peroxidase

PTU disables peroxidase AND 5'-deiodinase. Methimazole only inhibits peroxidase. primary adrenal insufficiency due to adrenal hemorrhafge associated with N. Meningitidis septicemia, DIC, and endotoxic shock. 5P's: Pressure (bp increased), Pain (headache), perspiration, palpitaitons, pallow. pheochromo makes epi and nor-epi (alpha and beta agonists). Blocking only beta will cause unchallenged stimulation of a recepors, causing hypertensive crisis. Block A first to control the a receptors and then block b. thryotoxicosis when a person with iodine deficency goiter is made iodine replete. hashimoto's thyroiditis. also called Albright's hereditary osteodystrophy. kidnet doesn't respond to PTH. findings: hypocalcemia, short 4/5th digits, short stature. central - give desmopression (ADH analong). for nephrogenic, ADH won't cause a response. instead, give HCTZ, indomethacin or amiloride. inschemic infarct of pituitary following pospartum bleeding. type 1. type 2 might not need. 5-ht undergoes first pass elimination in the liver 1/3 metastasize, 1/3 present with a secondary malignancy, 1/3 are at multiple sites. gsstrin increased causes rugal thickening due to acid hypersecretion. low sugar diet and required insulin replacement.

dietary modification and exercise first, then medicaitons after that. insulin not always required. the light microscopy - congo red stain shows apple-green birefringece under polarized light. C-peptide is made when proinsulin is cleaved into insulin. This means the insulin comes from in the body and is no the result of insulin medication overdose. increased FSH, due to lost estrogen feedback control. Thymoma or thymic hyperplasia. small cell lung cancer. on osteoBLASTS. they upregulate M-CSF and RANK-L in themselves which then stimulates osteoCLASTS. 1. Thymoma 2. Thymic hyperplasia Pot-bellied, pale, puffy-face, protruding umbillicus, protuberant tongue dopaminergic pathway that connects hypothalamus to pituitary gland, inhibits prolactin excretion. 1. increased adiponectin 2. increased fatty acid transport protein 3. increased insulin receptors 4 inceased glut-4 Low magnesium = increased PTH secretion. sheehan = normal pituitary gland undergoes ischemic necrosis due to hypotension due to postpartum bleeding.usually no headache or vision problems. Apoplexy = a pitutary adenoma undergoes a hemorrhage. has headache, vision problems. hypothalamic or the stalk. Pituitary injury itself hardly ever causes permanent central DI. Amylin mycardial infarction via coronary disease DIL is causes NO renal or CNS involvement! forgut - pharynx to duodenum. midgut - doudenum to transverse colon. hindgut - distal transverse colon to rectum. sternal defects omphalocele, gastrochisis bladder exostrophy Duodenal - failure to recanalize (like in down syndrome). others: due to a vascular accident (apple peel atresia). gastro - abdominal contents NOT covered by peritoneum. omphalocele - contents ARE covered by peritoneum. firstborn males. ventral pancreatic bud abnormally encircles 2nd part of duodenum. Causes duodenal narrowing. ventral and doral pancreatic buds do not fuse. spleen = mesodermal. pancreas = foregut.

GI structures without and mesentery and non-GI stuff. (SAD PUCKER) Suprarenal gland (adrenal), Aorta and IVC, Duodenum(2nd+3rd), pancreae (except tail), ureters, colon(desc and ascend), kidneys, esophagus, rectum. in to out (MSMS) mucosa, submucosa, muscularis externa, serosa. errosion = mucosal layer only. ulcer = submucosa muscular layer. meissner = submucosa layer. auerbach = muscularis. stomach = 3 wave/min. Duodenum = 12w/m. Ileum = 8-9 w/m. 3rd part of duodenum is trapped between the SMA and the aorta, restricting it's lumen. TIPS (transjugular intrahepatic portosystemic shunt) which connects portal vein to hepatic vein. line in the anus where endoderm meets the ectoderm. 1. periportal. sensitive to viral hepatitis. 2. intermediate 3. pericentral sensitive to toxins and alcoholic hepatitis. The ampulla of vater. the head of pancreas. (if you go lateral to medical you hit your NAVEL) Femoral Nerve, Femoral Artery, Femoral Vein, empty space, Lymphatics. femoral artery, vein, nerve. Borders are inguinal ligmant, sartoris muscle and adductor longus muscle. femoral artery, vein,and deep inguinal lymph nodes do. Femoral NERVE does not!!! inferior epigrastric vessel, lateral border of rectus abdominis, inguinal ligament. DIRECT comes through it! Parietal = yes, they work through Ach. G cells = NO. they are signled by GRP. located in duodenum. Secrete alkaline mucus. they hypertrophy in peptic ulcer disease. absorbed as Fe2+ in the duodenum. absorbed in the jejunum. in the terminal iluem. Cholesterol 7alpha-hydroxylase. if defiecient, will get gallstones. Fibrates may cause this.

1. helps absorb fat. 2. cholesterol excretion. 3. antimicrobial activity via membrane disruption. Via bile salts. decrease in lower esphogeal sphincter tone. Candida - white pseudomembrane. HSV-1: punched out ulcers. CMV: linear ulcers. transmural esophageal rupture due to violent retching.

triad of: dysphagia due to esophageal webs, glossitis, iron defiency anemia. ADEK HLA-DQ2, HLA-DQ8, and nothern european descent. 1. anti-endomysial. 2. anti-tissue transglutaminase. 3. anti-gliadin. Tissue transglutaminase is use for screening. acute gastritis causes by decreased plasma volume yielded burns and then sloughing of gastric mucosa. acutue gastritis caused by increased vagal stimulation from brain injury, leading to increased Ach and then increased H+ production. A: antibodies to partietal cells causes pernicious anemia and achlorhydia. In fundus/body/ B: H. Pylori infection. in anturm, most common. associated: intestinal and MALT lymphoma. not associated: diffuse. adult: obstruction by fecalith. kids: lymphoid hyperplasia. 2 inches long, within 2 inches of ileocecal valve, 2% of population, first 2 years of life,2 types of epithelia (gastric +pancreatic) splenic flexure and distal colon. autosomal dominat APC mutation on 5q. 2 hit hypothesis. 100% get colorectal cancer, always involves rectum. Familial adenomatous popylposis + osseous and soft tissue tumors + hypertrophy of retinal pigment epithelium. familal adenomatous syndrome + malignant CNS tumors. autosomal dominant mutation in DNA-mismatch repair genes. 80% get colorectal cancer. proximal colon always involved. 1. IBD 2. Smoking 3. villous adenomas 4. juvenile polyposis sydrome 4. peutz-jeghers syndrome. AK-53. loss of APC gene, K-ras mutation, loss of p53. 1. appendix 2. ileum 3. rectum. Viral hep (ALT>AST) and alcoholic hepatitis (AST>ALT). obstructive liver disease (HCC), bone disase, bile duct disease. increaed in liver + biliary disease, not bone. mumps and acute pancreatitis acutepancreatitis. it is decreased in wilson's disease. always avoided EXCEPT in kawasaki's disease. it can be Hepatitis B+C, wilson's disease, hemochromatosis, a1-antitrypsin deficiency, alcoholic cirrhosis, and alfatoxin. alpha-fetoprotein. benign liver tumor in people over 30. do NOT biopsy due to bleeding risk! benign liver tumor, related of OCP or steriod use. can regress spontaneously. malignant tumor of liver endothelial cells, associated with PVC and arsenix.

1. micronodular cirrhosis 2. DM 3. skin pigmentation and dermal deposits (all add up to bronze diabetes). c282Y or H63D mutation in HFE gene. Associated with HLA-A3. (GET SMASHED) gallstones, ethanol, trauma, steroids, mumps, autoimmune, scorpion sting, hypercalcemia/hypertriglycemia, ERCP, drugs(sulfa) lipase. causes by acute pancreatitis. lined by granulation tissue which makes it tend to rupture and causes huge hemorrhage. idiopathic and alcohol abuse. tobacco use, chronic pancreatitis, age over 50, jewis or african american. a migratory thromophlebitis that causes redness and tenderness on extrememities - seen in pancreatic adenocarcinoma. gastroduodenal lots of mucus, causing large volume,liquid stools and hypovolemia and electrolyte imbalances. Blood is common, too. No. Uncommon because sinusoidal hypertension does not develop. vila bile salts and into stool gamma-gtuamyl-transpeptidase

Look for Zollinger-Ellison syndrome.

Auerbach = in muscularis externa, parasym and sym, controls muscle contraction. Meissner's = in sumucosa, parasymp only, controls secretions WDHA: Watery Diarrhea, Hypokalemia, Achlorhydria cholesterol 7alpha-hydroxylase (CAN) Cardiac symptoms, Arthralgias, neurologic symptoms. Tortuous dilation of vessels, often found in cecum, terminal ileum, and ascending colon. causes hematochezia. Carcinoid tumor. caused by immature UDP-glucuronyl transferase -> kernicterus. tx: phototherapy -> converts UCB to a water soluble form. trypsin. It then goes on to activate all others. Hypoalbuminemia and prolonged PT. AST and ALT are NOT! ALT and AST determine if injury is occuring, not how well the liver is functioning! 1. ballon hepatocyte degeneration 2. mononuclear cell infiltrates 3. councilman bodies` used on stool to identify fecal fat-> looks for malabsorption IMA Precursor to gallstones, forms when there is gallbladder hypomotility.

Brown = biliary infection. black = intravascular hemolysis injured hepatocytes -> release of B-glucuronidase -> de-glucornide firect bilirubin. This causes increased indirect bilirubin and can cause brown gallstones. Fat can't be absored due to ileum inflammation. Calcium binds to fat instead of to oxalate. Oxalate is now free to be absorbed -> high oxalte = rish for kidney stones. the serotonin metabolite 5-hydroxyindoleacetic acid. Carcinoid syndrome. serotonin and bradykinin are inactivated in the lungs. 60% get chronic hep C with slow cirrhosis. Doudenal enteropeptidase >4 cm. 1. flat, non-polypoid dysplasia 2. develop early p53 mutation, late APC 3. multifocal in nature direct - conjugated with glucuronic acid, water soluble. indirect - unconjugated, water insoluble. squamous - upper 2/3. adenocarinoma - lower 1/3. (GET SMASHED)Gallstone, ethanol, truama, steriods, mumps, autoimmune, scorpion sting, hypercalcemia, hypertiglycerima, ERCP, drugs. (NAACP) Neoplastic, asthma, allergic, collagen vacular disease, parasites. varying size RBC varying shaped RBC megakaryocyte alpha - vWF and fibrinogen. dense - ADP, calcium. petechiae VWF - GpIb. fibrinogen - GpIIb/IIIa. Neutrophil (54-62%), Lymphocytes (25-33%), monocytes(3-7%), Eosinophils (1-3%), basophils (0.-0.75%) alkaline phosphotase, collagenase, lysozyme, lactoferrin. acid phosphotase, peroxidase, B-glucuronidase. Macrophage. monocyte. histaminase and arylsulfatase heparin, histamine, leukotrienes. donor of RBC = O type, donor of plasma = AB type. reciepent of plasma = O type. polycthemia, sickle cell anemia, CHF, microcytosis, hypofibrinogenemia. Thalasemia, Anemia of chronic disease, Pb poisoning. HbC disease, asplenia, liver disease, thalassemia. (TAL) thakassemia, anemia of chronix disease, lead poisoning. hereditary elliptocytosis.

megaloblastic anemia or marrow failure. excess iron in RBC mitochondria. DIC, TTP/HUS, traumatic hemolysis. hereditary spherocytosis, autoimmune hemolysis bone marrow infiltration (HALT) HbC disease, Asplenia, liver disease, Thalassemia. oxidation of hemoglobin sulfhydryl groups causes denaturation of heme and precipitation. eventually leads to bite cells. Seen in G6PD. basophillic nuclear remnants in RBCs. normally removed in the spleen so they are seen in aslpenia or naphthalene ingestion (mothballs) decreased serumiron, increased TIBC, decreased ferritin, decreased % transferrin saturation. decreased serum iron, decreased TIBC, increased ferritin, NC in %transferrin. increased: serum iron, %transferrin, and ferritin. decreased: transferrin. increased transferrin making %transferrin decrease. cis - common in asians, trans - common in africans lead inhibits ferrochetalase and ALA dehydratase, decreasing heme synthesis. also inhibits rRNA deg, causing basophillic stippling. (LEAD) Lead lines on gingivae (burton's lines) and metaphysis of long bones, Encephalopathy and erthryocyte basophilling stippling, abdominal colic and sideroblastic anemia, drops in wrist and foot. hereditary: x-linked defect in gamma-ALA synthase. Reversible: EtOH, lead, INH. B6, pyroxidine which is a cofactor for gamma -ala synthase. folate: high homocysteine but normal methymalonic acid. b12: both are high. PT: tests extrinic + common pathway: (only factors I, II, V, VII, X). PTT: intrinic + common: (all factors except VII and XIII) CD30, CD15. Both cause a increase in WBC with a left shift (increased neutophil precursors). Leukomoid: increase leukocyte aklaline phosphotase. CML: decreased leukocyte alkaline phosphotase. when CML accelerates and transforms into AML or ALL. vinca = inhibit microtubule formation. paclitaxil = inhibits DISSASSEMBLY! glucocorticids or CML causes demarginilzation of PMN = increased neutrophils (left shift.) Lymphocyes and other leukocytes numbers go DOWN. Paroxsymal Nocturnal Hemoglobinuria (cell surface proteins needed to inactivate complement) Citrate (added to the blood to prevent coagulation) chelates calcium and magnisum, which may cause paresthesias. vWF protects factor VIII. There there is no vWF VIII is destroyed, causing intrinsic pathway problems. II, VII, IX, X, XI, XII.

Kalil = ACTIVATE bradykinin -> decreased permeability, vasoconstriction. ACE = inactivate bradykini Point mutations in splice sites and promoter sequences -> decreased production. von Willebrand's disease. Factor V leiden TdT+ (pre T or B cell marker), CALLA+. TRAP (tartrate-resistant acid phosphate). TX: clardribine (adenosine analog) Peroxidase+ cytoplasmic inclusions. treatment may release them -> DIC. S-100 (neural crest cell marker) and CD1a. RCC, Wilms tumor, HCC, hydronephrosis. All can stimulate ectopic EPO. deficient lipid absorption messes up the cell membranes of RBCs B-thalessemia minor and intermedia. TNF-alpha lupus anticoagulant. PTT is increased but they actually clot more. lower IgM is made -> lower complement and MAC. Natural Killer cell when self-reactive T or B cells become nonreactive without a costimulatory molecule. (this is passive immunity) (To Be Rapidly Healed) Tetanus, Botulinum, HBV, Rabies. T Lymphocytes, Transplant rejection, TB skin test, Touching (contact dermatitis) I, II, III. NOT IV!!!! Selective IgG deficiency, casuses a false positive HcG due to heterophile antibody. (CILK) C5a, IL-8, LTB4, Kallikrein. stage. Paracortex, it houses T cells. also, this part is not well developed in DiGeorge. IL-2, IL-12, IFN-B, IFN-A. type I (IgE), type II and III (IgG) type IV. Dendritic cells CD3, CD4, CD25. Make ANTIinflammatory cytokines! IL 10 and TGFB. IgM and IgD CD 16 (binds Fc of IgG), cd56 (To Be Healed Rapidly) after exposure to Tetanus, Botulinum, HBV, Rabies) type III hypersensitivty. After transfusions, drugs in fluid act as haptans.

They have SEVERE anaphylactic shock, host attacks the new IgA! Must give IgA free blood! TNF-alpha, IFN-gamma, IL-6. IL-1, IL-6, TNF-alpha. these causes ESR to increase. M. Pneumoniae. They lyse red blood cells leading to anemia. chlamydia, N. gonhorreae, salmonella, shigella, yersinia, campylobacter, and ureaplasma. 1st 1-2 weeks, during the flu like stage. during the paroxysmal stage when coughing is bad antibiotics will not help. Silver stain is positive in Bartonella. Also, bartonella = pmn inflammation. Kaposi = lymphocytic inflammation. In the purkinje cells of the cerebellum pregnant women in the lymph nodes erythrocyte P antigen. Cryptococcus, Methanamine silver can also be used. after first infection you are positive for life. must rely on the non-treponemal tests S. Sonnei purely based on history, there are no diagnostics tests that can be done Lecithinase (alpha toxin) which destroys phospholipids and thus cell membranes The neonate has a very weak immune system. Much of the damage is mediated by our own immune system. b. antracis inhalational anthrax local -> T cells. Why HIV patients mostly get thrush. disseminated -> PMN. Loss of PMN = terrible, systemic infection. Hyponatremia infant = eat spores, adults = eat toxin herpesviruses DNA must be integrate into the host genome. If integrase is blocked, this does not occur. Then, host replicative enzymes can't be used to make HIV mRNA. Azithromycin echovirus and coxsackie(the enterovirus group makes up 90% of them) 1. urethritis 2. conjunctivites 4. seronegative arthritis (cant see, cant pee, cant climb a tree)

bone is replaced with fibroblasts, collagen, and weird bone structure. triad: multipe unilateral bone lesions, endocrine abnormalities (precocious puberty), cafe-au-lair spots. RA heberden = DIP, bouchard = PIP. seen in osteoarthritis. 80% have RA factor (an IgG). more specific is Anti-cylic citrullinated peptide. HLA-DR4 is also associated. gout =yellow. psuedogout = blue. Trauma, high dose corticosteroids, alcoholism, sickle cell. Due to elevated 1Alpha-hydroylase-mediated vitamin D activation in epitheliod macrophages. a type of scleroderma. Calcinosis, Raynaud's, Esophageal dysmotility, Sclerodactyly, Telangiectasia. sudden appearance of multiple suborrheic keratoses. indicates an underlying malignancy, often lymphoid. seperation on stroking of a bullous. + in pemigous vulgaris, - in bullous phemigould. SJS with greater than 30% of the body involved. hyperinsulenemia (DM, obesity, cushing's syndrome) or malignancy. SSSS = keratinocytes destroyed only in the stratum granulosum. TEN = epidermal-dermal junction is destroyed. EBV but it often occurs in HIV + patients. sunlight, immunosuppession, and arsenic. ACL: femur: lat, tibia: medial. PCL: femur: medial, tibia: lateral. muscle spindles (intrafusal muscle fibers) Desmosomes = spinosum, stem cells = basale, keratin = corneum. dorsal = abduct the fingers, palmer = adduct the fingers (DAB and PAD) 1. smoking 2. menopause 3. glucocorticoids 4. physical inactivity 5. white 6. loe body weight 7. etoh use higher bmi = more bone density Parvovirus in adults can. You can differentiate them by resolution, Parvo will resolve on its on, RA does not. impaird carbonic anhydrase, osteoclasts do not function! Paget's -> increased blood flow from increased arteriovenous shunt. 1. TRAP 2. urianry hydroxyproline 3. urinary deoxypyridinoline (11:22) (11+22=Ewings Sarcoma) Pagets, bone infarct, radiation, familal retinoblastoma

alcohol metabolites compete for same excretion sites as uric acid ->decreased uric acid secretion. gonococal is migratory, asymmetric. destructive is one joint. 1. Hyperkeratosis (increased thickness of corneum 2. parakeratosis (rentention of nuclei in corneum) intradermal = papular. junctional = flat. increased spinosum, decreased granulosom. Erythema Multiforme 1. sarcoid 2. fungal infections 3. leprosy 4. chrohns 1. hep c 2. sawtooth infiltrate in dermal-epidermal junction herald patch and then christmas tree plaques days later UVA = photoaging, tanning. UVB = sunburn. depletes glutathione and forms toxic tissue adducts in liver. when a plaque is scraped away, there is pinpoint bleeding. This is suggestive of psoriasis -> thin epidermis. medial circumflex UVB only. activation of osteoclasts -> bone resorption. Osteoblast activation follows that. unbillicus = t10, nipples = t4, anus = s4. Superior gluteal = all gluteal muscles except maximus! Between 8-10, above the rib to avoid the neurovascular bundle. notochord underneath the ectoderm neural tube and neural crest cells. Alar(dorsal) - sensory. Basal(ventral)-motor neuropores fail to fuse in week 4. increased AchE in aminotic fluid.

spina bifida occulta - failure of spine canal to close, dura intact, no herniation. can see tuff of hair above it. Meningocele - meninges but NOT spinal cord herniates. Meningomyelocele spinal cord and meninges herniate. 1. polyhydramnios ->no swallowing center, fluid not decreased. 2. maternal DM, type 1. failure of light and right cerebral hemispheres to seperate. cerebellar herniation through foramen magnum with aqueductal stenosis and thus hydrocephalus. usually paralysed beneath defect. agenesis of cerebellar vermis with enlargement of 4th ventricle -> associated with hydrocephalus and spina bifida. syringomyelia, usually c8-t1.

are Marcophages, come from Mesoderm! RER, found only in cell bodies and dendrites. NOT found in axons! oligo = multiple. schawnn = one. oligodendrocytes. schwann cells endoneurium - on single nerve, inflammed in gullian-barre. peri - permeability barrier around fasicle, much rejoin in reattachment. epi - aroud entire nerve, has blood and connective tissue. 5 F's: feeding, fleeing, fighting, feeling, sex. lateral: injured movement in extremeties, wil fall TOWARD injured side. medial: balance, truncal coordination. 1. lewy bodies (alpha-synuclein inclusions) and loss of dopaminergic neurons (depigmentaiton) in substantia nigra pars compacta. PPRF = eyes look AWAY from lesion. frontal eye field = eyes look TOWARD lesion. inability to make new memories, antereograde amnesia. acute paralysis, dysarthria, dysphagia, diplopia, LOC. Can cause locked in syndrome! damage to bilateral amygdala. results in hyperorality, hypersexuality, disinhibition. associated with HSV-1. Hippocampus, neocortex, cerebellum, watershed areas. (12-48h) red neuron. (24-72h) necrosis +PMN. (3-5d)marcopahges. (12w)gliosis+vascularization. (>2w) glial scar. superior opthalamic vein->cavernous sinus damage to frontal lobe. caused by paramedian branchs of ASA and vertebral arteries ->contra hemiparesis of body, contra decreased in body proprioception, ipsil hypoglossal dysfunction. PICA usually in small vessels, like basal ganglia or thalamus lower - less muscle mass, less tone, less reflexes, downgoing toes,flaccid paralysis. upper increaed tone, DTR, + babinski, spastic paralysis. anterior horns, leading to LMN destruction. Tabes->dorsal column destruction only. b12->dorsal column AND lateral corticospinal AND spinocerebellar. b12 has more movement ataxia. congenital degeneration of anterior horns->LMN damage. causes floppy baby with hypotonia and tongue fasiculations, who dies by 7 months. above T1. superior = conjugate gaze center, inferior = auditory. (eyes are above the ears) Paralysis of conjugate gaze due to a lesion in the superior colliculi. 1, olfactory

visceral Sensory information (taste, baroreceptor, gut distension) from CN VII, IX, X. Motor innervation of pharynx, larynx, upper esophagus (swallowing, palate elevation) CN IX, X sends autonomic fibers to heart, lungs, GI. CN X. forehead spared? yes = UMN damage. Bilateral UMN innervation to each LMN. LMN damage = forehead NOT spared. mass effects in the CS, ophthalmoplegia and decreased corneal + maxiliiary sensation with NORMAL vision. III, IV, V1, V2, VI and postganglionic sympathetics. E6= p53, E7=Rb. HPV jaw deviates TOWARDS the injury due to unopposed opposite ptergoid muscle. uvula deviates AWAY from the lesion, weak side collapses and points uvula away. weakness in turning head to contralateral side and shoulder droop on ipsilateral side. tongue deviates TOWARD side of the lesion due to weak tongue muscles on affected side. conductive: abnormal rhine (bone>air), weber localizes to affected ear. sensineural: normal rhine (air>bone), weber localizes to unaffecred ear. produces it:Cilliary epithelim (B agonist control). collects it: canal of schlemm. Lens pushes the iris into the canal of schlemm/trabecular meshwork. this prevents flow of aqueous humor -> IOP goes up.types: Chronic (asymptomatic, peripheral vision loss and optic n. damage) and acute (emergency! painful, sudden vision loss, rock hard eye.) Epinephrine, it stimulates myradiasis which worsens the block. Going down stairs. They cannot look down while eyes look towards nose. motor ->ocular muscles. Parasympathetic ->are first affected by compression. deficit->blown pupil. 1. high myopia 2. seeing floaters and flashes degeneration of macula->central blindness. dry degeneration->slow, prevent with multivitamins. wet->fast, due to chorodial neovascularization. prevent with anti-VEGF. early onset = APP(Ch 21), presenilin-1(Ch 14). late onset = ApoE4(Ch 19). protective = ApoE2(19). (SIN) scanning speech, Intention tremor(+incontience + internuclear opthalmoplegia), Nstagmus buildup of galactocerebroside destroy's myelin sheath. Malignat hyperthermia following succinylcholine or sevoflurance, isoflurance, devolfurance. A shock felt down peripheral extremities on neck flexion. Commonly seen in mulitple sclerosis or cobalamin deficiency. toxic retinopathy (ohenithiazines, chloroquine), Vit A def, Congenital rubella, syphillis, diabetic retinopathy.

paramedian pontine reticular formation NF1 = neurofibromin, NF2 = merlin This is flinging of the joints on one side of the body, occurs due to contralateral injury in the subthalamic nucleus. XI, it enters the foramen magnum and comes back out the jugular foramen. 1. decreased face expression 2. less PS input to salivaary, subman, and sublingual gland. 3. lost of tase to ant 2/3 of tongue. 4. feeling to pinna and external ear canal increased in endolymph causes triad of episodic tinnitus, vertigo, and sensorineural loss. vascular is a stepwise progression, caused by slow lacunar infarcts. Alzheimer's is progressive and continual. it is the chemorecptor zone, it samples blood as it lacks a BBB. found on the DORSAL medulla, near the 4th ventricle. 1. Schwannoma 2. Melanoma. (both are derived from neural crest cells!!!!) schwann cells (neural crest) 1. caudate nucleus 2. putamen Give glucose but not thiamine! This greatly enchances the syndrome and can cause hermorrhage in the mammillary bodies! sonic hedgehog. ADH = supraoptic. Oxytocin = paraventricular. NMDA-R binding and glutmate toxicity. conduction apashia Expansion of ventricles streches the corona radiata (the parts running to and from cortex). Turns the head to contralateral side Zinc-copper superoxide dismutase Freidrich's Ataxia -> both involve degeneration of the spinocerebellar tracts. increased age, black, family hx Afferent nerve problem, swinning light test constricts both eyes when in good eye, no eyes in bad eye. paraventricular Temporal lobe Risapiradone. Clonzapine is least likely. B6. It increases peripheral metabolism of levodopa -> more parkinson's symptoms. Hyperventilate -> loss of pCO2 -> brain vasoconstricts -> pass out due to lack of blood flow. Neuroleptics. This is a tense feeling and restlessness. treated by decreasing doss and adding antiparkinson drugs. (PSaMMoma) Papillary carcinoma of the thyroid, serous cysadenocarcinoma of the ovary, meningioma, mesothelioma.

Learning in which a natural response is elicted by a learned stimulus (think pavlov's dog) learning in which a particular action is elicted because it generates a reward. discontinuation of reinforcement (+ or -) eventually eliminates the behavior patient projects feelings about another person onto the doctor (sees doc as parent) doctor projects feelings about important person unto patient Unconscious mental processes used to resolve conflict and prevent undesireable feelings temporary, drastic changes in personality, memory, behavior, etc to avoid emotional distress displacement = avoided ideas or feelings are transferred to some neutral person or object. projection = an unacceptable impulse is attributed to an external source. fixation = remain at some childish level. regression = turning back to a past maturational level. modeling behavior after a more powerful person seperation of feelings from an event (describe a murder in cold detail) proclaiming logical reasons for actions actually performed for other reaons to avoid self-blame reaction formation = a warded off idea or feeling is replaced by the opposite response (homophobic is gay). sublimation = replace an unacceptable wish with one that doesn't conflict with morals. Mature people wear a SASH Sublimation, suppression, humor, altruism. 4W's: weak, wordless, wanting, wary. 6 months male caregiver 50% of the time. decreased frontal lobe volume. a childhood disorder where there is constant behavior violating the basic rights of others, often becomes antisocial personality disorder. a childhood disorder with a pattern of defiant behavior towards authority figures in the absence of abuse of sociatal norms. before 18, it must persist for greater than 1 year. associated with OCD. onsets between 7-9. autism: speech disoder, often below average intelligence aspergers: no language disorder, often normal intelligence. x-linked disorder seen exclusively in girls, males die in utero. loss of development, loss of verbal abilities, mental retardation, ataxia. onset of 304 years, marked regression after at least 2 years of normal development. loss of speech, social skills, bowels, etc, more common in boys. increase NE. decreased GABA, 5-HT. decreased ne, 5-ht,dopamine decreased ach decreased gaba and ach, increased dopamine

increased dopamine decreased: dopamine, increased: 5-ht, ACh 1st - time, 2nd - place, 3rd - person. perceptions in the absence of external stimuli. false beliefs despite facts to contray words slung together through loose associations from a medical illness, i.e. drug intoxication psychiatric part of epilepsy, seizure and brain tumors common in alcohol withdrawl or cocaine abuse while GOing to sleep while pompously awakening 6 mo. (+)= symp: delusions, hallucinations, disorganized speech, disorganized or catanoic behavior. symp: flat affect, social withdraw, lack of motivation, lack of speech 1. paranoid (delusions) 2. disroganized (speech) 3. catatonic (automatisms) 4. undifferentiated (elements of all types) 5. residual suicide Males (teens). Females present in late 20's to 30's. under 1 mo, usually stress related lasts 1-6 mo atleast 2 weeks of of stable mood with psychotic symptoms plus depressive manic or both fixed, persistent, nonbizarre belief system lasting over 1 mo. (also called folie a deux) development of delusions in a person in a close relationship with someone who has a delusion disorder. resolves upon seperation. presence of 2 or more personalities. more common in women w/hx of sexual abuse persistent feelings of detachment from one's body or situation abrupt change in location causes inabilty to recall past and to general confusion. not related to drugs or a medical condition. Must last 1 week or more. (DIG FAST) 1. distracted 2. Irresponsibility 3.Grandiosity 4. Flight of ideas 5. Agitation 6. less need for sleep 7. talkative less severe manic episode. no psychotic featues. must have atleast 1 manic episode and 1 hypomanic episode dysthymia and hypomania, mild form of bipolar lasting at least 2 years. self-limited disorder with depressive episodes alsting 6-12 mo. Must have 5 of the following symptoms for 2 or more weeks. (SIG E CAPS) Sleep disturbance, loss on interest, guilt, loss of energy and concentration, appetite change, psychomotor retardation, suicidal ideation. mild form of depression lasting at least 2 years females (25%) to males (12%)

atypical depression. 1. the blues - 50% get, resolves in 10-14 days, no drugs. 2. depression 10% get, lasts 2 weeks to a year, give antidepressants. 3. psychosis .1%, get delusions. lasts 4-6weeks. antipsychotics It is used in major depressive disorder that is refractory to treatment. sldo in immediate treatment of suicidality. side effects are amenesia lasting 6 mo. SAD PERSONS: Sex(male), Age(teenage or elderly) Depression, Previous attempt, ethanol or drug use, loss of Rational thinking, sickness (a medical illness), organized plan, no spouse, social support lacking. women attempt more, males succed more often. must have 4 of the following : PANICS- Palpations, paresthisias, Abdominal distress, nausea, intense fear of dying, lIghtheadedness, ches pains, chills, choking, sweating, shaking, SOB. PTSD lasts atleast 1 month, acute stress disorder lasts 2 days to 1 month. GAD is anxiety for atleast 6 mo, adjustment disorder lasts under 6 months. disorders with physical symptoms that have no physical cause but are not being intentionally faked. actue loss of sensory or motor functions following an acute stressor Preoccupation with minor deficiets in body, constantly seeking cosmetic changes. malingering = secondary gain, i.e. getting days off work or a pension. factitous disorder = gets medical attention from a madeup illnes. Paranoid = distrust, schzoid = social withdrawl and likes it, schizotypal = magical thinking. Antisocial = disregard for others rights, boderline = impulsive, unstable relationships, histrionic = excessive emotions, narcissistic = gradiosis, sense of entitlement. Avoidant= feels inadequate, fear of rejection. Obsessive-compulsive = perfectionism, dependent = submissive and clingy. 1. precontemplation. 2. contemplation 3. preparation 4. action 5. maintenance 6. relapse lacerations at the gastroesophageal junction from excessive vomitting, often painful in contrast to espophageal varices. rigidity, myoglobinuria, autonomic instability. seen with antipsychotics overdose. treatment: dantrolene and bromocriptine (d2 agonist) sterotypical oral-facial movements, from long term antipsychotic use. often NOT reversible. occurs with any drug that increases serotonin (MAO inhibitor, SNRI, TCA) hyperthermia, confusion, myoclonus, cardio collapse, flushing. tx: cyproheptadine (5ht antagonist) 2-5 days. with benzodiazepenes to stop seizures. increased overall REM, decreased REM latency, more early morning wakefullness.

Delerium = abnormal. dementia = normal. 1. centriacinar - associated with smoking. 2. panacinar - associated with A1-antitypsin deficiency. increased in airway pressure prevents airways from premature collapse. asthma. spirals = epitheium forms mucus plugs. leyden crystals = eosinophil breakdown. decreased I/E ratio cor pulmonale and Caplan's syndrome Asbestos exposure. Are NOT precancerous. 1.5 or below. 2.0 or above is normal. 1. retinopathy of prematurity. 2. bronchopumonary dysplasia. 1. prematurity 2.maternal diabetes(elevated fetal insulin) 3. cesarean birth (less fetal glucocorticoids) maternal steriods before birth, artificial surfactant after birth. 1. neutrophillic substances toxic to lungs 2. coagulation cascade 3. oxygen-derived free radicals UNDER 80! 80 or above BUT both FEV1 and FVC decrease about equally. hypoxic intervals -> increased EPO release -> increased erthryopoesis. tension: check valce forms, air can enter but it can't leave thus overinflation. spontaneous: bleb in pleura pops, making the lung collapse on itself and become smaller. lung adrenals, bone, liver. (SPHERE) Superior vena cava syndrome, pancoast tumor, horner syndrome, endocrine, recurrent laryngeal symptoms(hoarse), effusions (pleural or pericardial) peripheral - adenocarcinoma, large cell. central - squamous cell, small cell. mesothelioma pleural. S. Pneumoniae, klebsiella. atypical organisms. Viruses(influenza, RSV, adenocarcinoma), Mycoplasma, Legionella, Chlamydia. Mixed III/IV. Often seen in farmers and bird owners. type I: inflammatory infiltrate with esosinohils. asthma, aspirin-induced bronchospams,nasal polyps.

cystic fibrosis benign tumor of nasal mucosa, composed of blood vessels and fibrous tissue. Presents in young males with recurring epistaxis. associated with EBV. biopsy will reveal pleomorphic keratin filled cells, like a poorly differentiated squamous cell carcinoma. Often presents with lymph node enlargement. alcohol use and tobacco use. S. aureus, HiB, pseudomonas, Moraxella. increased due to lung trapping Centri - smoking, upper lobes where smoke goes! Pan - A1-antitrypin, worse in lower lobes. lungs and liver. is a hypersensitivity reaction to aspergillus. occurs in people with asthma or cystic fibrosis. idopathic pulmonary fibrosis, usually end-stage. acute respiratory distress syndrome lecithin(phospatidylcholine) increase, spingomyelin levels stay constant. 1. patent ductus arteriosus 2. necrotizing enterocolitis. C345, keeps the diaphram alive! external intercostals, Scalene, sternomastocleiod rectus abdomins, int + ext obliques, internal intercostals CBEAT - CO2, BPG, Exercise, Acid/Altitude, temperature O2(in normal lungs), CO2, N20 CO, O2(in empysema, interstial fibrosis, etc) bicarbonate Air trapping, aka obstrutive lung disease blockage of small airways = bronchiolitis obliterans in pulmonary veins! screte clara cell secretory protein which inhibits pmn recruitment. airway + alveolar = 0. Intrapleural = negative, to prevent pneumothorax. defect in BMPR2 gene, which normally inhibits vascular smooth muscle proliferation. abnormal trafficking. Protein can't be postranslationally processed. reduced reabsorption leads to glycosuria and aminoaciduria.

(MUDPILES) MeOH, uremia, DKA, propylene glycol, iron tablets or INH, lactic acidosis, ethylene glycol, salycylates. (HARD-ASS) hyperalimentation, addisons, renal tubular acidosis, diarrhea, acetazolamide, spironolactone, saline infusion. opiods, obstruction, chronic lung disease. loop diuretics, vomitting, antacid use, hyperaldosternoism Acute tubular necrosis nonspecific, can be normal. 1. proteinura (>3.5g/d), hyperlipidemia, fatty casts, edema. hematuria, RBC casts, azotemia, hypertension, proteinuria (<3.5 g/d) calcium invades renal vein -> IVC -> blood. goes to lung and bone. Wilm's tumor. Pee SAC: phenacetin, smoking, aniline dye, cyclophosamide. Acute tubular necrosis. 1. inciting event 2. maintenance phase - oliguric, last 1-3 week, risk of hyperkalemia 3. recovery phase - polyuric, BUN and serum creatinine fall, risk of hypokalemia shock, sepsis, myoglobinuria, toxins DM, acute pyelonephritis, phenacetin use, sickle cell anemia or trait No. Must be bilateral. 1. acute tubular necrosis 2. chronic ->DM or hypertension berry aneurysms, mitral valve prolapse, benign hepatic cysts CATCHH- cough, angioedma, teratogen (fetal renal malformation), creatinine increase (decreased GFR), hyperkalemia, hypotension. LMNOP: lithium side effects: movement, nephrogenic diabetes insipidus, hypOthyroidism, pregnancy issues ureteropelvic junction. Failure to canalize -> block. male genital system 1. AEPKD 2. bilat renal aplasia 3. posterior urethral valve. inferior poles of kidnet fuse. turner syndrome ECF - inulin. plasma - radiolabeled albumin. it is freely filtered but is it not secreted or reabsorbed. all PAH entering the kidney is excreted. It is borth freely filtered and actively excreted. FF = GFR/RPF. dilates it, so RPF and GFR both increase, keeping FF the same. constricts it, so RPF decreased and GFR increased making FF jump drastically.

360 mg/dL low blood volume but it secondarily regulates osmolarity. blod volume they inhibit b-receptors, and thus DECREASE renin release thus DECREASING bloodpressure! 1. erythropoietin 2. PT converts 25-OH vit d to 1,23-OH vit d 3. JG make renin 4. prostaglandins dilate affterent arteriole (DO Insulin LAB) Digitalis, hyperOsmolarity, Insulin deficiency, lysis of cells, acidosis, B0adrenergix antagonist low: tetany, seizure high: stones, bones, groans, psychyiatric overtones. low: U wave on ECG, flat T wave, muscle weakness. High: wide QRS, peaked T wave, muscle weakness low: tetany, arrhythmias.high: decreased DTR, lethargy, bradycardia, hypotension, cardiac arrest, hypocalcemia low:bone loss, osteomalacia. high: renal stones, hypocalcemia. 1+2: hypokalemia. 4: hyperkalemia. acute tubular necrosis bladder. casts = also renal origin nothing, are often nornmal Nephrotic syndrome HIV infection, heroin use, obesity, interferon treatment they are eosinohilic, nodular glomerulosclerosis found in diabetic glomerulonephropathy proximal tubule cells. the LEFT. left testicular vein dumps into the left renal vein. on the right, the testicular vein goes right into the IVC. Wilms tumors, aniridia (no iris), genituurniary malformations, and mental retardation wilms tumor Pee SAC: phenacetin, smoking, aniline dye, cyclophosamide. the maintenance phase, during oliguria 1. DM 2. acute pyelonephritis 3. chronic phenacetin use 4. sickle cell anemia and trait BUN is usually resorbed but creatine is not. decreased ratio ->renal failure Nausea, pericarditis, asterixis(flapping of wrist), encephalopathy, platlet dysfunction PKD1 and PKD2 mutaitons medullary causes something very similar to nephrogenic diabetes insipidus.

lithium inhibits vasopression receptors in the collecting ducts sodium cyanide-nitroprusside test turns urine red. left. longer ureter. JG = modified smooth muscle of afferent arteriole. MD =salt senor in DCT. In the mesangium. 1. EPO 2. ACTH 3. PTHrP WT1 Used for countercurrent multiplication Urea. ADH increased water and urea uptake -> this stregthens the counter current. (Sertoli cells Support Sperm Synthesis) 1. secrete inhibin (lowers fsh) 2. secretes androgen binding protein (maintains local levels of testesterone) 3. supports spermatogonia. ALSO: products MIH and makes blood-testes barrier! CA-125. good for progression NOT FOR SCREENING. genetic predisposition - family HX, BRCA1, BRCA2, HNPCC. Triad of ovarian fibroma, ascites, and hydrothorax. exposure to DES in utero is a risk factor for clear cell adenocarcinoma of the vagina later in life most common: endometrial>ovarian>cervical. worst prognosis: ovarian>cervical>endometrial. Vitamin K and D, this occurs by 6 mo if no supplement if given. hypertension, proteinuria, edema. pre-eclampsia + seizures the germinal zone is very dense soon after birth, also very weak and prone to hemorrhage. increaes with prematurity and smaller weight. 1. type 2 DM 2. endometrial adenocarcinoma (due to unopposed estrogen) in the breast is a typical place malposition of the head in utero or birthing problems. urogenitcal tract malformations. 1. HPV 2. Immunosuppression 3. low SES 4. sexual activity(early and many) 5. smoking inhibits materal folate absorption->NTDefects 1st arch neural crest cells fail to migrate -> mandibular hypoplasia and face abnormailities blood from ruptured follicle can cause peritoneal irratiation that mimics appendicitis. Klinefelters (extra x is inactive) Tall, phenotypically normal. normal fertility, have severe acne and antisocial behavior.

Adeny = uterus is enlarged. endo = uterus is not enlarged. both = have abnormal menstral bleeding due to resistance to flow in the drainage point at the left renal vein. VACTERL: vertebral defect, anal atresia, cardiac defect, Tracho-esophageal defect, Limb defects deform: extrinsic defect, potters. malform: intrinsic, holoprosephaly. disruption: normal tissue is destroyed, aminiotic band sydndrome neural tube defect DHT>testo>androstendione Estradiol(ovary)>estrone(fat)>estriol(placenta) stage III meiosis I -> pro I. Meiosis II -> meta II. increaes blood glucose in increased insulin resistance -> more glucose for baby. ARDS or cerebral hemorrhage low hCG. smoking cessation. It is better than almost anything else that can be initiated.

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