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DEPARTMENT OF EDUCATION

National Capital Region


Division City Schools Manila

MANILA SCIENCE HIGH SCHOOL


Taft Ave., cor. Padre Faura St., Ermita, Manila

CPHD- CIPA Patient Helping Device

Recentes, Martin John, V.


12 – Charles

Ms. Jana Marie Alano


Research Adviser
Acknowledgement

This research is dedicated to the following people, events, and other mediums:

To my family who has supported me both financially and emotionally during the course of this

capstone project. Their help is very much appreciated.

To Mrs. Eliszabeth Marasigan, who guided me in doing this study with the minor support and

advising that I had. Her help is very much appreciated

To the producers of Grey’s Anatomy, who had introduced me to the CIPA disease and started my

intrigued interest in the subject matter. The information you sent is very much appreciated.

Finally, to the Lord my God, who has continually guided me throughout my life, and effectively

in this project as well. I offer all my talents and thoughts to your greatest glory.
Abstract

Just as people make a functioning society in doing daily work, different parts of the body likewise

function together to make the body work. The supposed actions of these different parts of the body are

reliant on a person’s genes. However, there is a tendency for gene structure to go wrong, causing it to

mutate. Some mutations are permanent, and these are called genetic mutations. One such genetic mutation

is the Congenital Insensitivity to Pain with Anhidrosis, or more commonly known as CIPA. CIPA is

caused by a genetic mutation which prevents the formation of nerve cells which are responsible for

transmitting signals of pain, heat, and cold to the brain. While Neuropatholigical approaches are currently

being researched in order to treat CIPA, current treatment involves extreme surveillance and maintenance

of CIPA patients. In this study, the researchers took a whole different approach from neuropathology on

treating CIPA. Through Mechatronics, the researcher developed a device prototype could CPHD or the

CIPA Patient Helping Device that would serve as a support to the CIPA patients’ stimuli.
1. Introduction

Just as people make a functioning society in doing daily work, different parts of the body

likewise function together to make the body work. The supposed actions of these different parts

of the body are reliant on a person’s genes. According to the U.S. Library of National Medicine,

genes are the basic physical and functional unit of heredity, which are made up of DNA, and act

as instructions to make molecules called proteins. In humans, genes vary in size from a few

hundred DNA bases to more than 2 million bases. Every person has two copies of each gene, one

inherited from each parent. Most genes are the same in all people, but a small number of genes

(less than 1 percent of the total) are slightly different between people. Alleles are forms of the

same gene with small differences in their sequence of DNA bases. These small differences

contribute to each person’s unique physical features.

However, there is a tendency for gene structure to go wrong, causing it to mutate. Some

mutations are permanent, and these are called genetic mutations. The U.S. Library of National

Medicine described genetic mutations to be permanent alterations in DNA sequence which makes

up a gene such that the sequence differs from what is found in most people. Mutations range in

size; they can affect anywhere from a single DNA building block (base pair) to a large segment of

a chromosome that includes multiple genes.

Gene mutations can be classified in two major ways:

 Hereditary mutations are inherited from a parent and are present throughout a

person’s life in virtually every cell in the body. These mutations are also called

germline mutations because they are present in the parent’s egg or sperm cells,

which are also called germ cells. When an egg and a sperm cell unite, the

resulting fertilized egg cell receives DNA from both parents. If this DNA has a

mutation, the child that grows from the fertilized egg will have the mutation in

each of his or her cells.


 Acquired (or somatic) mutations occur at some time during a person’s life and

are present only in certain cells, not in every cell in the body. These changes can

be caused by environmental factors such as ultraviolet radiation from the sun, or

can occur if an error is made as DNA copies itself during cell division. Acquired

mutations in somatic cells (cells other than sperm and egg cells) cannot be passed

to the next generation.

One such genetic mutation is the Congenital Insensitivity to Pain with Anhidrosis, or

more commonly known as CIPA. CIPA is caused by a genetic mutation which prevents the

formation of nerve cells which are responsible for transmitting signals of pain, heat, and cold to

the brain. The disorder is autosomal recessive. It does not appear to have any particular ethnic

distribution, though it is more prevalent in cultures in which intermarriage is an accepted practice.

Overheating kills more than half of all children with CIPA before age 3. The genetic mutation is

in the gene encoding the neurotrophic tyrosine kinase receptor (SCN9A gene). NTRK1 is a

receptor for nerve growth factor (NGF). This protein induces outgrowth of axons and dendrites

and promotes the survival of embryonic sensory and sympathetic neurons. The mutation in

NTRK1 does not allow NGF to bind properly, causing defects in the development and function of

nociceptive reception.

Pain dictates the quality of life no matter what health related problem would be

encountered. CIPA prohibits it’s victims to feel pain’s physical form. Khadije Daneshjou, MD,

Hanieh Jafarieh, MD, and Seyed-Reza Raaeskarami, MD characterized CIPA by recurrent

episodes of infections and unexplained fever, anhidrosis (inability to sweat), and absence of

reaction to noxious stimuli, self-mutilating behavior, mental retardation and damages to oral

structures. All of these are ramifications of the inability to feel pain.

While neuropatholigical approaches are currently being researched in order to treat CIPA,

current treatment involves extreme surveillance and maintenance of CIPA patients. As they

cannot feel pain, they are prone to self-harm thus leading to severe structural deformities. CIPA
patients always wear protective gear such as goggles to prevent them from scratching their eyes,

helmets, knee caps, and ankle caps, to prevent hindrance from joint development, etc.

On the other hand, the potential of Mechatronics or Robotics, which is a subset of

electrical and mechanical engineering, has been increasing in recent years due to the development

of technology. The vast availability of materials that could be obtained, used, and created hold

much regard of how tangible robotics could be.

In this study, the researchers is attempting to take a whole different approach from

neuropathology on treating CIPA. Through mechatronics, the researcher is developing a device

that would serve as the CIPA patients’ stimuli. The research will hopefully alleviate some

problems that CIPA had posed on its victims.

2. Methodology

2.1 Introduction

The researcher used the qualitative research method for the reason that acquiring the

information needed by the researcher calls for the said method. Denzin & Lincoln (2005) said that

the Qualitative research approach will provide the flexibility required for the CIPA device’s case.

Narrative approach was commenced upon the execution of the research. This is because

the only instrument and medium used are robotic parts in order to make the CPHD, or the CIPA

Patient Helping Device. Kim Etherington (2007) defined narrative approach as the means by

which researchers systematically gather, analyze, and represent people’s stories as told by the,

which challenges traditional and modernist views of truth, reality, knowledge, and personhood. In

the case of this study, narrative approach is used to answer the simple questions that the device

needs to answer with, such as whether or not it works, and if it will be indeed a possible prototype

for future devices.


How the project would flow is dictated by the operational framework below.

Studying CIPA Making of


symptoms Brainstorming design design

OUCH!

COLD! HOT!

GOOD!

Working Concept

2.2 Site

CIPA is one of the rarest genetical diseases known to man and thus, quantitative

measures of how effective the device was not possible at the execution of the research. Thus, the

research focused on the execution of the devices itself.

2.3 Population

The research does not have any population to deal with since it did not acquire

respondents or key participants. Since the narrative approach was used in the research,

definitions, and symptoms of CIPA disease were the basis of how the device would work.

Generally, the device is a response stimulus in compensation for the lack of stimuli reception and

reaction of CIPA patients.


2.4 Data Gathering

In order to build the CPHD, digital to analog microcontrollers, such as the Arduino UNO

R3, and the Gizduino+ w/ ATmega644 were used as the main CPU of the device. The sensors

that were used in the inputs of the Arduino are the following: Arduino Keyes K- 005 IR

Transmitter Module in order to emit Infrared signals from the Arduino, Arduino Keyes K-012

Shock Sensor in order to detect shock vibrations from the Arduino UNO R3, Arduino Keyes K-

015 Analog Temperature sensor in order to measure the temperature from the Arduino UNO R3

(Analog Temperature sensor was used because it could measure temperatures more accurately

than digital source temperature sensors) . Arduino Keyes K-005 IR Receiver sensor for the

Gizduino+ w/ ATmega644 to receive the IR signal from the Arduino UNO R3, 5V Red LED’s

and servo motor for reaction stimulus response of the Gizduino+ w/ ATmega644. Schematic

Diagram of the design.

2.5 Ethical Considerations

The researcher considered the ethical issues in this project. NO data was falsified, the

authors that the researcher used where acknowledged, and no respondents were used in lieu of

ethical considerations.

3. Results and Discussion

3.1 Findings

The designing of the model prototype for the CPHD took the form of two devices- a

glove, and eyeglasses. The index finger of the glove contains the analog temperature sensor while
the thumb contains the shock sensor. The pinky finger contains the IR transmitter. As for the

eyeglasses, near the end of the right hinge is where the breadboard with the LED could be

located, while on the left hinge is where the servo motor which would make the pressure that

could be felt by the CIPA patient. The device is fully operational after being tested for three

times.

3.2 Analysis

The glove had the temperature on the index finger and the shock sensor on the thumb

respectively because of the fact that statistically, these are the two fingers that are most prone to

injuries. The other device was made into eyeglasses specifically because the face is the part of the

body where several sensory organs are located, thus making it easier to alert the CIPA patient if

external pain or discomfort is happening. As the first device of its kind and due to a lack of

financial backing, the device of course, is plagued with a multitude of flaws. First, the sensors

could have been merged into one, and could be found into the whole system of the device to

increase drastically its use and efficiency. Furthermore, the device is still very bulky for what it is

supposed to do. It is far from ergonomic, which would cause discomfort for users upon long

periods of use.

3.3 Conclusion

In summary, the study has further improved the knowledge of the researcher in the field

of Mechatronix, and Neuropathology, especially CIPA. The development of the CPHD has been a

great learning lesson for the researcher, and hopefully, the further improvements that could be

coveted on the CPHD would be implemented in the impending future.


4.References:

Daneshjou, K, Jafarieh, H., Raaeskarami, S-R. (2012, September 22). Congenital Insensitivity to Pain and

Anhydrosis (CIPA) Syndrome; A Report of 4 Cases Retrieved from:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564101/

Lambert, K. (n.d.). How CIPA Works. Retrieved from: https://science.howstuffworks.com/life/inside-the-

mind/human-brain/cipa3.htm

U.S. National Library of Medicine. (2018). What is a gene mutation and how do mutations occur?

Retrieved from: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation

U.S. National Library of Medicine. (2018). What is a gene?? Retrieved from:

https://ghr.nlm.nih.gov/primer/basics/gene

U.S. National Library of Medicine. (2018). How can gene mutations affect health and development?

Retrieved from: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/mutationscausedisease

Wikipedia (n.d.) Congenital Insensitivity To Pain With Anhidrosis (CIPA). Retrieved from:

https://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain_with_anhidrosis

Henry’s Bench- a place for computer hobbyists (2018) KY-002 Arduino Vibration Shake Sensor: Manual

and Tutorial. Retrieved from: http://henrysbench.capnfatz.com/henrys-bench/arduino-sensors-and-

input/ky-002-arduino-vibration-shake-sensor-manual-and-tutorial/

Microcontroller Projects (2018) Infrared Remote Control Interfacing with Arduino Uno. Retrieved from:

http://www.microcontroller-project.com/keyes-infrared-remote-with-arduino.html

All my Droids (2015, January 7) Keyes IR emitter / transmitter with Arduino. Retrieved from:

http://allmydroids.blogspot.com/2015/01/keyes-ir-emitter-transmitter-with.html

TINKBOX (2018) KEYES IR TRANSMITTER/ RECEIVER ARDUINO. Retrieved from:

http://tinkbox.ph/sites/tinkbox.ph/files/downloads/Keyes%20%20Infrared%20Receiver%20Module%20.p

df
ArduinoModules (2016, October 27) KY-022 INFRARED RECEIVER MODULE. Retrieved from:

https://arduinomodules.info/ky-022-infrared-receiver-module/

GitHub (2018) Arduino IRremote Infrared remote library for Arduino: send and receive infrared signals

with multiple protocols. Retrieved from: http://z3t0.github.io/Arduino-IRremote/

TINKBOX (2018) Keyes Infrared Transmitter Module. Retrieved from:

http://tinkbox.ph/sites/tinkbox.ph/files/downloads/Keyes%20%20Infrared%20Transmitter%20Module.pd

TkrkLab (2018) Arduino KY-005 Infrared emission sensor module. Retrieved from:

https://tkkrlab.nl/wiki/Arduino_KY-005_Infrared_emission_sensor_module

Altium (2017, September 13) NEC Infrared Transmission Protocol. Retrieved from:

http://techdocs.altium.com/display/FPGA/NEC+Infrared+Transmission+Protocol
Appendix A

Device A Schematic Diagrams

A.1 Schematic Circuit

A.2 PCB Diagram


A.3 Breadboard diagram

Device B Schematic Diagram

A.4 Schematic Circuit Diagram


A.5 PCB Diagram

A.6 Breadboard Diagram


Appendix B

Device A Code

Device B Code
Curriculum Vitae

Martin John V. Recentes is currently a senior in Manila


Science High School. He has co- authored several past
researches about Agriculture, Audiosemiotics, and Education
Innovation in the Philippines. Having a high interest and
proficiency in the field of Science, he has been a contestant in
several science competitions in the country. His main academic
interests are Physics, Mechatronix, and Music Theory. His main
hobbies include Badminton, Volleyball, Baking, Start-ups, and
playing the piano. He will be graduating in Manila Science High
School by the Philippines summer of the year 2018.

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