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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
To Mrs. Eliszabeth Marasigan, who guided me in doing this study with the minor support and
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
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
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
are present only in certain cells, not in every cell in the body. These changes can
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
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
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,
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
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.
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
In this study, the researchers is attempting to take a whole different approach from
that would serve as the CIPA patients’ stimuli. The research will hopefully alleviate some
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
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
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
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
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.
3.1 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
Daneshjou, K, Jafarieh, H., Raaeskarami, S-R. (2012, September 22). Congenital Insensitivity to Pain and
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564101/
mind/human-brain/cipa3.htm
U.S. National Library of Medicine. (2018). What is a gene mutation and how do mutations occur?
https://ghr.nlm.nih.gov/primer/basics/gene
U.S. National Library of Medicine. (2018). How can gene mutations affect health and development?
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
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
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
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 Code
Device B Code
Curriculum Vitae