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1. Essay On Congenital Insensitivity To Pain With Anhidrosis
Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and
autonomic neuropathy type IV, is an inherited disease that prevents the feeling of pain and decreased
or absent sweating. This is an extremely rare autosomal recessive disease and is often fatal. CIPA is
so dangerous because of how it affects and damages the functions of the nervous system.
The nervous system is in many ways the most vital system of the body. It is responsible for
monitoring and regulating homeostasis, coordinating voluntary and involuntary responses and
integrating sensory information. Anatomically, it is divided into two sections: the central nervous
system (CNS) and the peripheral nervous system (PNS). The CNS controls the brain ... Show more
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When noxious stimuli, inflammation, or disease harm the body nociceptors (special tissue nerve
cells) send a signal to the spinal cord and then the brain (this action displays the PNS at work). The
grey matter of the brain focuses on the processing and work through neurons and glia while the
white matter of the brain sends electrical impulses of information from one side of the brain to the
other. These electrical signals will be sent between the hypothalamus and thalamus and causes pain
(Muench, 2015). For people who have CIPA the nerve fibers that detect pain and temperature never
developed.
CIPA is an autosomal recessive gene meaning that both parents have to have had the abnormal gene.
It causes a mutation in the neuropathic tyrosine kinase receptor (NTRK1). The mutation in NTRK1
prohibits nerve growth factor to bind properly which results in nociceptive function and
development to be impaired. Hence prohibiting the sense of pain and temperature.
This is an abnormal disease that affects only a small population of the world. The origin of this
disease is unknown but there is no links to ethnicity in the disease. However, the disease is more
common when inbreeding occurs. Symptoms of the disease include "impaired pain sensation,
intellectual disabilities, irritability, osteomyelitis, self injurious behavior, skin ulcer" (Congenital
Insensitivity to Pain with Anhidrosis). This disease is usually discovered during infancy as self
mutilation often occurs (ie biting the
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3. Superman Research Paper
It's a bird! It's a plane! It's Superman! In 1938, Action Comics #1, released the first Superman comic
to the public. Superman, also known as Kal El, has shown many different powers since his first
debut in 1938. This paper will discuss various topics about four of his major powers and explain
why they are all impossible for anyone to achieve in real life. Superman's four major powers that
will be discussed in this paper are X–ray vision, being able to fly, super strength, and invulnerability.
The X–ray was first discovered in 1895 by a German physicist named W.C. Roentgen ("The
Discovery"). W.C. Roentgen was working in a lab one day in 1895 and decided to send a high
electrical current through a cathode ray filled with special gas. He ... Show more content on
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In many of the comic books released by Action Comics #1, Superman is depicted holding a massive
falling object such as an airplane, or a car using just one or both of his hands. This means that the
entire weight of a falling plane or car is balanced on a section of area approximately the size of a
human being's hands (Inglis–Arkell). According to Boeing, the average amount of weight for a
Boeing 747 airplane that is full of passengers is around 115,000 kilograms ("Aircraft"). The average
area of an adult male hand is 0.189 meters (Agnihotri). We are able to determine the force applied in
newtons according to the equation Fw=mg. This is because the variable 'g' is understood to be a
constant 9.81 meters per second squared. If we multiply the mass (m), which in this case is 115,000
kilograms, by the variable 'g' in this situation we would find that the force exerted by the airplane
expressed in newtons is 1.13 x 10⁶ newtons (Walk). We can determine the amount of pressure
exerted using the following mathematical relationship: Pressure equals force divided by area
(Chemistry Book). If we plug in 1.13 x 10⁶ newtons in for the force and 0.378 meters in for the area
of both of Superman's hands, we find that the total pressure that Superman has to exert on the
airplane is 7.91 x 10⁷ pascals. A pascal is defined as the pressure exerted by a force of one newton
acting on an area of one square meter ("Gases"). The world
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5. The X Ray Vision Of Superman
It's a bird! It's a plane! It's Superman! In 1938, Action Comics #1, released the first Superman comic
to the public. Superman, also known as Kal El, has shown many different powers since his first
debut in 1938. This paper will discuss various topics about four of his major powers and explain
why they are all impossible for anyone to achieve in real life. Superman's four major powers that
will be discussed in this paper are X–ray vision, being able to fly, super strength, and invulnerability.
The X–ray was first discovered in 1895 by a German physicist named W.C. Roentgen ("The
Discovery"). W.C. Roentgen was working in a lab one day in 1895 and decided to send a high
electrical current through a cathode ray filled with special gas. He realized that a dim green colored
light was being produced, and decided to hold the cathode ray just above his wife's hand. When he
did this he observed that the light was able to penetrate human skin, but would leave all the bones
visible. There is a picture below of the X–ray of W.C. Roentgen's wife's hand ("The Discovery"). He
named it the X–ray because he did not know the identity of what kind of ray it was. He just named it
X, because of its use in solving unknowns in algebraic equations ("The Discovery").
However, there are some limitations on this Superman power in both the laws of physics and in the
laws of the human body. The first restriction is that in an X–ray, tiny rays will pass through any
atoms that don't have enough mass
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7. Congenital Insensitivity To Pain Research Paper
Israel Aguilar
Professor Jesu
Biology 281
September 13, 2013
Congenital Insensitivity to Pain Congenital insensitivity to pain, also known as CIP, is a condition
where an individual has somatosensory deficiency such as feeling ranges of heat, pain, or pressure.
CIP was first discovered in 1953 by a man named Dearborn who was first diagnosed with the
disease and was first labeled as Congenital Pure Analgesia. Studies have been done on multiple
patients with CIP and scientists have discovered that CIP is produced because there is a mutation
with the gene called SCN9 A. Due to the mutation of the SCN9 A a defect is produced in the
voltage–gated sodium channel type IX alpha also known as NaV1.7. NaV1.7 is a channel that is
located on peripheral neurons which associate with sending messages, such as pain, to the brain. ...
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There are different levels that categorize how severe or early an individual produces CIP. Scientists
have titled these levels as Heredity Sensory and Autonomic Neuropathies I–V or HSAN I–V.
Individuals labeled as HSAN I means that they have obtained CIP during their early stages of
adulthood and view the disease gene as autosomal dominant where one of their parents passed the
gene down to their offspring. As for patients who are labeled with HSAN II–V, they have produced
CIP during childhood and view their gene as autosomal recessive where both parents passed the
gene off to their offspring. Most individuals who produce this disease have a short life span and live
to about the age of twenty–five. In addition, individuals feel normal even though their may be minor
or major injuries, which makes it a necessity for them to get a check ups
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9. The Genetic Disease And Disorders
Cellular Biology Paper There are many genetic diseases and disorders in the world these days, some
of which are stranger or more unique then others. One such unique genetic disease is Congenital
Insensitivity to Pain with Anhidrosis or CIPA for short. This particular genetic disease causes people
who have to it to not be able to feel pain or even differentiated between hot or cold. As well as be
unable to sweat, because of the anhidrosis. This genetic condition is also known as hereditary
sensory and autonomic neuropathy type IV, but in this paper it will only be referred to as CIPA.
Congenital insensitivity to pain with anhidrosis, CIPA, is an inherited disorder of the nervous
system, which causes people to have to be unable to have ... Show more content on Helpwriting.net
...
It is very difficult for them because they have to be constantly checking them selves to make sure
that they haven't been cut or injured, especially in the mouth area and their limbs. The odds of
someone being born with this condition are about 1 in 125 million. So it is definitely not a very
common condition that many doctors would see. Doctors have however been able to identify the
gene mutation responsible for causing CIPA, it is the gene encoding the Neurotrophic Tyrosine–
Kinase receptor (NTRK1 gene). It is mutated in a way that interferes and halts the
autophosphorylation process, therefore stopping signals of pain and temperature from being sent to
the brain. The neurotrophic Tyrosine–Kinase, receptor, type 1 gene (NTRK1) is actually a very
important gene in the human body. It is the main gene that provides the instructions for making
certain proteins (NTRK1 proteins) that are essential for the development and survival of nerve cells.
Especially the ones that transmit the information that is sent for pain, temperature and touch
(sensory neurons). Sensory neurons are often found with the NTRK1 protein on them, this is
because they act as a kinase; which is a type of enzyme that catalyzes the transfer of oxygen and
phosphate groups to proteins, which is called phosphorylation. NTRK1 activated when nerve growth
factor beta (NGFβ) binds to it and singles the
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11. Cipa
Congenital Insensitivity to Pain with Anhidrosis Congenital Insensitivity to Pain is a very amazing
disease. I chose to report on the specific section of it dealing with Anhidrosis because this also
leaves the infected individual with the inability to sweat. This causes problems such as fevers and
overheating from over exertion or external heat which in turn can cause brain damage. Many people
affected by this disease die before the age of twenty–five from infections left untreated, metal
retardation, overheating, and freezing. This leaves the field of exploration in finding a cure very
narrow because people treated die too early to show direct connections to any of their treatment.
Congenital Insensitivity to Pain with Anhidrosis ... Show more content on Helpwriting.net ...
In this situation, going to the restroom and eating are the same, they are both annoying things that
CIPA patients do not feel the need for but must do to survive. People affected with CIPA usually
have bodily problems and are unaware of it. Their inability to experience pain lets them overuse
their bones and joints leading to fractures and dislocations. They usually inspect themselves for
bruising and swelling and if either is found it is closely watched and investigated. They cannot tell
what a good water temperature would be for a bath, or washing dishes, or even drinking. Being
without the immediate knowledge of a wrong bodily function or bodily harm, leads to many of the
deaths of the infected people. CIPA patients have an absence of normal responses to noxius stimuli
that are in people with regular nervous systems. CIPA is the result of a defect in a neural crest
differentiation and the system responsible for pain and body temperature is lost. Nociceptive
neurons in the dorsal root ganglia derive from the neural crest and they can only survive if they are
stimulated by NGF through TrkA. Mutations in the TrkA gene have shown a correlation with the
defective development of the nociceptive neurons. The best resource for a case study came from
Ms.C. Her dad was a doctor and was aware of her CIPA so he asked his colleagues in
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13. Congenital Insensitivity To Pain
Abstract
Congenital Insensitivity to Pain Other known as CIP has an unexplained reason as to why it happens
to some but not others. Some symptoms of are recurring fevers, ability to sweat, No reaction to
painful scenarios,and self mental retardation. The genetic basis for CIP is unknown as of right now.
It is apart of the family disorder called HSAN which stand for hereditary sensory and autonomic
neuropathy. Most people that have a disorder involving HSAN have some form of lose between pain
and temperature. Most of the time when you can't feel the pain and it is linked to CIP you have some
form of nerve damage if you have felt it before or if you haven't felt it before have some form of
brain damage affecting the train of thought to the ... Show more content on Helpwriting.net ...
To have something go wrong with a person that has CIP is hard because they can't give you any
feedback on the pain intensity or if they have a problem that is visibly wrong that they can't see or
feel at the time. Like if they are to get shot or to get burn they can become infected due the fact they
are open wounds that haven't been taken care of and need immediate help. Most people who have
CIP can touch and feel things like any other person out there But having CIP just takes the pain
away so that they can feel it anymore. Turning into something they don't know what is happening
until it is shown to them a few minutes later. ("143. The Pain of the Painless." Most Odd Facts of
Interest. 11 June 2011. Web. 1 July 2015.) Most children that have CIP have also suffered the
common cavity inside their mouth, have bitten the tip their tounge of ,and or have broken several
bone the the extent that they know. Unnoticed infection and corneal damage due to foreign object in
the eye have also been seen. Because the child cannot feel pain, they may not respond to problems,
making them more prone to severe diseases. There are some cases where the condition is caused by
increased production of endorphins in the brain, ( Wikipedia. Wikimedia Foundation. Web. 5 July
2015.) in which case naloxone may be used as treatment. This treatment doesn't always work for
some. In all cases, this disorder can be in the voltage–gated sodium
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15. CIPA Case Studies
Cognitive Insensitivity to pain and anhidrosis (CIPA) is best described by the International Journal
of Clinical Pediatric Dentistry (2015) as a disorder that occurs in the autonomic nervous system that
is categorized as a level IV Hereditary Sensory and Autonomic Neuropathies (HSAN). 1846 marked
the beginning of the recognition of HSAN, but it was not widely analyzed. Advancements in the
research of the disorder did not occur largely until 1932 and then were sparse until 1963. Some of
the first visible symptoms recorded would refer to the way individuals with the disorder would
sweat. Which is consistent with the modern research of sweat variations in people with HSAN.
There is no specific gender or race that are inclined to be one of the 0.004% of the population that is
affected by the disorder (Ravichandra, Kandregula, Koya,& Lakhotia, ... Show more content on
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HSAN I usually start after one turns twenty years old and has autosomal dominant neuropathy.
Responses of HSAN I from patients include: Reflexes do not seem to work, a lack of sweat, and
problems with urinating. HSAN II is autosomal recessive neuropathy where individuals lose the
sense of pressure and touch. HSAN III seems to be more hereditary, especially with ancestry from
Ashkenazic Jews. Symptoms include fungiform papillae on the tongue, loss of pain, and loss of
temperature perception. Only about 50% of patients with HSAN III make it to age 30. HSAN IV or
CIPA is one of the most talked about forms of HSAN. Individuals with CIPA often times have
anhidrosis, which causes them to have issues sweating, thermal and pain sensitivity is absent, and
self–mutilation is present. HSAN V is similar to HSAN IV, with insensitivity to pain and
temperature, but the autonomic system differs in those with type IV and type V. (Ravichandra,
Kandregula, Koya,& Lakhotia, 2015, p.
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17. Congenital Insensitivity To Pain Essay
Most people think that painless people are superheroes but in general they have a very deadly
disease. Yes some people may think that they can get away with just about anything just because it is
a great godly effect that they can't feel what hit them that they won't react to it at all. Well many
scientist have gone out to deep reach to find out what is wrong with these people and what is some
solution to the pain that they can't feel. Well most cases have a form of inherent between the family.
Considering that most forms of Congenital Insensitivity To Pain is perceived that is shows no
Physical Pain is show. the two common kind of CIP is with and without anhidrosis. As if you are to
hit someone on the back of the head and they don't have a reaction due to the mutations in the
SCN9A. Now lets Go into more depth about each topic that has to do with CIP for short. Having no
pain mean nothing to react to if something is wrong. To have something go wrong with a person that
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IT is an extremely rare disorder of the nervous system which prevents the feeling of pain ,heat ,cold,
and anything you can feel with the attention of your nerves With the absence of pressure which can
still be filled. "Anhidrosis" means the body does not sweat, and "congenital" indicates that the
condition is present from birth. CIPA is caused from a genetic mutation which prevents the
formation of a nerve cells which send signals about pain and temperatures. It does not have any
particular ethnic distribution, though it is more prevalent in cultures in which intermarriage is an
accepted practice.It is shown to have the same genetc mutation of CIP with aception of other
deiseses.Overheating kills more than half of all children with CIPA before age
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19. Ntrk1 Research Paper
Congenital insensitivity to pain with anhidrosis is a hereditary gene that comes from a mutation in
the NTRK1 gene. The NTRK1 gene provides instructions for making a receptor protein that binds to
another protein called NGFB. NTRK1 is important for the survival of the nerve cells. It is found on
the surface of cells, mostly neurons that transmit pain, temperature, and touch. The mutations mean
it can't transmit signals to the neurons then they die by self destruction, it is called apoptosis.
Loss of the sensory neurons lead to the inability to feel pain and also leads to the loss of the nerves
that lead to the sweat glands, which causes anhidrosis. It is inherited in an autosomal recessive
pattern both copies in each cell have the mutations. Parents of an individual with an autosomal
recessive condition each carry one copy of the mutated gene, but don't typically show symptoms or
signs of the condition.
C.I.P.A is very rare with there being less than 100 known cases in the United States. It is more
common in people that live in Northern Israel, ... Show more content on Helpwriting.net ...
The inability to feel pain and temperature can lead to repeated severe injuries. Unintentional self–
injury is normal, typically by biting the tongue, lips, and fingers. This can sometimes lead to
spontaneous amputation. People afflicted with C.I.P.A heal slowly from skin and bone injuries, and
repeated trauma can lead to chronic bone infections (osteomyelitis), or charcot joints (bones and
tissue surrounding joints are destroyed).
Anhidrosis can cause high fevers (hyperpyrexia) and febrile seizures. Many also have leathery skin
(lichenification) on palms of hands, misshapen fingernails or toenails, patches on their scalp where
hair doesn't grow (hypotrichosis), hyperactivity or emotional instability, intellectual instability, and
weak muscle tone (hypotonia) which becomes more normal as they grow
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21. Congenital Insensitivity to Pain with Anhidrosis (CIPA) Essay
Introduction Congenital Insensitivity to Anhidrosis (or CIPA) is a rare genetic disease with the
characteristics of not being able to feel any pain or temperature, and little or no sweating. It is
inherited by an autosomal recessive pattern, meaning that both parents have a mutated NTRK1 gene,
but they do not show any symptoms of CIPA. The damaged NTRK1gene produces proteins that
cannot transmit signals. Since the neurons do not get any signals from the proteins, they perform
apoptosis. Apoptosis is a process by which neurons self–destruct. Without these sensory neurons,
people with CIPA cannot feel any pain or temperature. They also lose the nerves by their sweat
glands, which leads to anhidrosis – lessened or no sweating. The purpose ... Show more content on
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Some characteristics of CIPA are hypotrichosis, where hair does not grow on parts of the scalp,
hyperactivity, leathery skin on the palms of the hands, oddly shaped toenails or fingernails,
emotional instability, and slight mental retardation. Those with CIPA have many health risks.
Because people with CIPA cannot feel pain, they tend to hurt themselves severely and repeatedly.
People with CIPA also tend to chew on their fingers, tongue, or lips, which sometimes leads to self–
amputation of body parts. Those with CIPA also are in danger of temperature–related risks, such as
hypothermia, heatstroke, burns, and frostbite. Growing up with CIPA is difficult. Most guardians do
not know that their child has CIPA until they notice unexplainable injuries, frequent fevers, or the
absence of crying when there is an obvious cause to. Children with CIPA have to be checked for
injuries and too high or too low of temperatures frequently. Many with CIPA die before they live a
full life because of infections that do not heal or high fevers. During teething, some children with
CIPA can bite themselves and they have to get teeth removed, so they will not hurt themselves.
Those with CIPA must sometimes wear eye protection, so they won't cause any damage to their
eyes. Although those with CIPA cannot feel pain, parents can teach their children to get an adult if
they see blood,
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