Venous thrombosis,

whose main clinical

presentations include deep vein thrombosis

and pulmonary embolism, represents a major
health

problem

worldwide.

Numerous

conditions are known to predispose to venous

thrombosis and these conditions are commonly
referred to as risk indicators or risk factors.
Generally accepted or "classically" acquired
risk factors for venous thromboembolism
include

advanced

age,

prolonged

immobilisation, surgery, fractures, use of oral

contraceptives

and

hormone

due to hepatic diseases or a vitamin K

serious condition because blood clots in your

deficiency. Protein S deficiency manifests as

veins can break loose, travel through your

an autosomal dominant trait; manifestations of

bloodstream and lodge in your lungs, blocking

thrombosis are observed in both heterozygous

blood flow (pulmonary embolism).

and

homozygous

genetic

deficiencies

of

protein S. This case report is of DVT due to

Protein S deficiency in a 53 year old male.
Venous Doppler was used to diagnose DVT and
free Protein S level measured by ELISA. IVC
filter was placed on the third day of
admission.

Deep vein thrombosis

(DVT) occurs

when a blood clot (thrombus) forms in one or

more of the deep veins in your body, usually in
S

is

anticoagulant

vitamin

your legs. Deep vein thrombosis can cause leg

allergy, asthma, and allergic rhinitis, in order

has given rise to the atopic march theory,
which

suggests

that

AD

is

part

of

progression that may lead to subsequent

allergic disease at other epithelial barrier

symptoms. Deep vein thrombosis can develop

activated factor V (FVa) and activated factor

if you have certain medical conditions that

A genetic basis for atopic dermatitis (AD) has

VIII (FVIIIa). Its deficiency is a rare

affect how your blood clots. Deep vein

long-been

condition

vein

thrombosis can also happen if you don't move

allude to family history of disease as a risk

thrombosis, pulmonary embolism or stroke. It

for a long time, such as after surgery,

factor. Prior to characterization of the human

is often treated with long-term anti-coagulant

following an

accident, or when you are

genome, heritability studies combined with

therapy.

be

confined to a hospital or nursing home bed.

family-based linkage studies supported the

hereditary or acquired; the latter is usually

Advertisement Deep vein thrombosis is a

definition of AD as a complex trait, in that

Protein

to

deficiency

as

with elevated levels of immunoglobulin E (IgE).

cofactor of activated protein C to inactivate

lead

functions

number of adults. AD is commonly associated

pain or swelling, but may occur without any

can

It

early infancy, but also affects a substantial

and

protein.

K-dependent

below) of unknown origin that usually starts in

series of allergic diseasesincluding food

therapy, pregnancy, puerperium, cancer and

Protein

pruritic inflammatory skin disease (see image

That it is the first disease to present in a

replacement

antiphospholipid syndrome.

Atopic dermatitis (AD) is a chronic,

deep

may

surfaces.

recognized.

Historic

documents

interactions between genes and environmental

the nuclei of the epidermis along with a

accumulation of the cerebrospinal fluid in

factors and the interplay between multiple

variety of other tissues.

cerebral

genes contribute to disease manifestation. A

summary of over 100 published reports on
genetic association studies through mid- 2009
implicates

81

genes,

46

of

which

have

demonstrated at least one positive association

with AD. Of these, the gene encoding filaggrin
(FLG) has been most consistently replicated.
Most candidate gene studies to date have
focused
response

on

adaptive

genes,

but

and

innate

there

is

immune

increasing

interest in skin barrier dysfunction genes.

This review examines the methods that have
been used to identify susceptibility genes for
AD, and how the underlying pathology of this
disease has been used to select candidate
genes. Current challenges and the potential
impact of new technologies are discussed.

amount of data has emerged regarding the

molecular effects of vitamin D in the skin.
expression

in

the

skin

was

first

confirmed after rats injected with radiolabeled

1,25-dihydroxyvitamin

is a condition that occurs

when fluid builds up in the skull and causes the

brain to swell. The name means water on the
brain. Brain damage can occur as a result of
the

fluid

buildup.

developmental,

This

physical,

can
and

lead

to

intellectual

impairments. It requires treatment to prevent

serious complications.
Human hydrocephalus is a common medical
condition

that

is

characterized

by

abnormalities in the flow or resorption of

cerebrospinal

fluid

(CSF),

resulting

in

ventricular dilatation. Human hydrocephalus

can be classified into two clinical forms,
congenital and acquired. Hydrocephalus is one

demonstrated radioactivity concentrated in

disorders.

growing

pathogenesis

of

during

hydrocephalus.

the
Genetic

studies in animal models have started to open

the way for understanding the underlying
pathology of hydrocephalus. At least 43
mutants/loci

linked

to

hereditary

hydrocephalus have been identified in animal

models and humans. Up to date, 9 genes
associated with hydrocephalus have been
identified in animal models. In contrast, only

of the complex and multifactorial neurological

Vitamin D and Atopic Dermatitis A large

VDR

Hydrocephalus

compartments

body

of

evidence

indicates that genetic factors play a major

role in the pathogenesis of hydrocephalus. An
understanding of the genetic components and
mechanism of this complex disorder may offer
us significant insights into the molecular
etiology of impaired brain development and an

one such gene has been identified in humans.

Most of known hydrocephalus gene products
are the important cytokines, growth factors
or related molecules in the cellular signal
pathways during early brain development. The
current

molecular

genetic

evidence

from

animal models indicate that in the early

development stage, impaired and abnormal
brain development caused by abnormal cellular
signaling and functioning, all these cellular and
developmental events would eventually lead to
the congenital hydrocephalus. Owing to our
very primitive knowledge of the genetics and
molecular

pathogenesis

of

human

hydrocephalus, it is difficult to evaluate

whether data gained from animal models can

activity and improves after periods of rest.

be extrapolated to humans. Initiation of a

Certain muscles such as those that control eye

large population genetics study in humans will

and

certainly provide invaluable information about

chewing, talking, and swallowing are often, but

the molecular and cellular etiology and the

not always, involved in the disorder. The

developmental

muscles that control breathing and neck and

mechanisms

of

human

hydrocephalus. This review summarizes the

recent findings on this issue among human and
animal models, especially with reference to
the

molecular

physiological

genetics,

and

pathological,

cellular

studies,

and

identifies future research directions.

Myasthenia

gravis

autoimmune

neuromuscular

is

chronic
disease

characterized by varying degrees of weakness

of the skeletal (voluntary) muscles of the
body. The name myasthenia gravis, which is
Latin and Greek in origin, literally means
"grave

muscle

weakness."

With

current

therapies, however, most cases of myasthenia

gravis are not as "grave" as the name implies.
In fact, most individuals with myasthenia
gravis have a normal life expectancy. The
hallmark

of

myasthenia gravis

is muscle

weakness that increases during periods of

eyelid

movement,

facial

expression,

limb movements may also be affected.

Myasthenia gravis

from foreign organismsmistakenly attacks

itself.

is caused by a defect
in the transmission of nerve impulses to
muscles. It occurs when normal communication
between the nerve and muscle is interrupted
at the neuromuscular junctionthe place
where nerve cells connect with the muscles
they control. Normally when impulses travel
down the nerve, the nerve endings release a
neurotransmitter substance called
acetylcholine. Acetylcholine travels from the
neuromuscular junction and binds to
acetylcholine receptors which are activated
and generate a muscle contraction. In
myasthenia gravis, antibodies block, alter, or
destroy the receptors for acetylcholine at the
neuromuscular junction, which prevents the
muscle contraction from occurring. These
antibodies are produced by the body's own
immune system. Myasthenia gravis is an
autoimmune disease because the immune
systemwhich normally protects the body

Vitamin D deficiency in patients with

myasthenia gravis and improvement of fatigue
after supplementation of vitamin D3: a pilot
study. Askmark H1, Haggrd L, Nygren I,
Punga AR. Author information 1Department of
Neurology, Uppsala University Hospital,
Institute of Neuroscience, Uppsala, Sweden.

Mitochondrial disease

is a chronic,
genetic disorder that occurs when the
mitochondria of the cell fail to produce
enough energy for cell or organ function. The
incidence is about 1:4000 individuals in the
US. This is similar to the incidence of cystic
fibrosis of caucasian births in the U.S. There
are many forms of mitochondrial disease.
Mitochondrial disease is inherited in a number
of ways. Mitochondrial disease presents vary
differently from individual to individual. There
may be one individual in a family or many
individuals affected over a number of
generations.

Mitochondrial disease

is an inherited
genetic condition. An uncertain percentage of
patients acquire symptoms due to other
factors, including mitochondrial toxins. It is

important to determine which type of

mitochondrial disease inheritance is present in
order to predict the risk of recurrence for
future children. The types of mitochondrial
disease inheritance include: DNA (DNA
contained in the nucleus of the cell)
inheritance. Also called autosomal inheritance.
If this gene trait is recessive (one gene from
each parent), often no other family members
appear to be affected. There is a 25 percent
chance of the trait occurring in other siblings.
If this gene trait is dominant (a gene from
either parent), the disease often occurs in
other family members. There is a 50 percent
chance of the trait occurring in other siblings.
MtDNA (DNA contained in the mitochondria)
inheritance. There is a 100 percent chance of
the trait occurring in other siblings, since all
mitochondria are inherited from the mother,
although symptoms might be either more or
less severe. Combination of mtDNA and nDNA
defects: Relationship between nDNA and
mtDNA and their correlation in mitochondrial
formation is unknown.

The goal is to improve symptoms and slow

progression of the disease.
Use vitamin therapy
Conserve energy
Pace activities
Maintain an ambient environmental
temperature
Avoid exposure to illness
Ensure adequate nutrition and hydration

Genetic engineering is the process

of manually adding new DNA to an organism.
The goal is to add one or more new traits
that are not already found in that organism.
Examples of genetically engineered
(transgenic) organisms currently on the
market include plants with resistance to
some insects, plants that can tolerate
herbicides, and crops with modified oil
content.

JULIE ANN L. MENDEJA

ABM1A1
MRS. OABEL