Ectodermal Dysplasias Essay

Ectodermal Dysplasias Essay
Ectodermal dysplasia is not a single disorder, but a group of syndromes all deriving from abnormalities of the ectodermal structures.More than 150
different syndromes have been identified.Despite some of the syndromes having different genetic causes the symptoms are sometimes very similar.
Diagnosis is usually by clinical observation often with the assistance of family medical histories so that it can be determined whether transmission is
autosomal dominant or recessive.Worldwide around 7,000 people have been diagnosed with an ectodermal dysplasia condition. Some ED conditions
are only present in single family units and derive from very recent mutations. Ectodermal dysplasias can occur in any race but are common in
caucasians than any other group and especially in fair caucasians.Ectodermal dysplasias are described as "heritable conditions in which there are
abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial–facial structure, digits and other
parts of the body.... Show more content on Helpwriting.net ...
The normal arrangement of internal organs is known as situs solitus while situs inversus is generally the mirror image of situs solitus. Although cardiac
problems are more common than in the general population, most people with situs inversus have no medical symptoms or complications resulting from
the condition, and until the advent of modern medicine it was usually undiagnosed.Situs inversus is found in about 0.01% of the population, or about 1
person in 10,000. In the most common situation, situs inversus totalis, it involves complete transposition (right to left reversal) of all of the abdominal
organs. The heart is not in its usual position in the left chest, but is on the right, a condition known as dextrocardia (literally,
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Dextrocardia Case Summary
KEYWORDS
Dextrocardia, Situs Inversus Totalis, Nasal epithelial cells, Primary ciliary dyskinesia , Kartagener Syndrome, CCDC, ZIC3, NODAL, CFC1,
CRELD1, FOXH1, SESN1, LEFTY1, ACVR2B, GDF1, NKX2.5, DNAH5, DNAI1 Radiography, Computed Tomography, Ultrasonography,
Electrocardiograph
ABSTRACT/SUMMARY
In this article review, it is discussed and revised that the congenital condition called Situs Inversus Totalis (SIT) with dextrocardia, which can have a
wide array of signs and symptoms, physiology and clinical characteristics, variation in genetic mutations, therapy and managements, possible
complications, as well as prognosis and outcomes. Diagnosing, testing and false positives/negatives or possible complications with testings will also be
assessed and discussed within this article.
CASE STUDIES
First case study involves an 86 year old female arriving to the ED with abdominal pain on the left hand side of her abdomen, with pre–existing
hypertension, but no other medical conditions nor medications, indicating appendicitis on the left hand side of her abdomen. Upon inspection, BP: ...
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Surgery can be an option for those who have intestinal malrotation to prevent possible complications as well as rectifying any septal defects that may
be present [26][27]
POSSIBLE COMPLICATIONS
Possible complications such as septic shock, perforated bowel from intestinal malrotation or blockage, congestive heart failure, continuous infections
(sinus and respiratory) can all lead to possible death [26][27][28]. Another complication is that those with the suffering with Kartagener syndrome will
suffer infertility due to the immobile cilia to allow the sperm to propel into the reproductive system of the female.
PROGNOSIS /

Centers For Disease Control And Prevention
Situs Inversus
According to the Centers for Disease Control and Prevention there are approximately three million babies born in the United States each year (Martin
et al.). While there is always risk that a baby could have any number of health conditions, one rarely occurring condition is situs inversus. "Situs" refers
to the position of an organ, with situs solitus being the ordinary arrangement of organs (Dictionary). Situs inversus is when the organs in the chest and
abdomen are mirrored, or opposite, of where their ordinary location should be. This is a unique genetic condition that affects 1 in 10,000 babies born
each year ("15 Incredible Situs Inversus Statistics"). While situs inversus is the general term used, there are three subtypes of the condition that can
occur: dextrocardia, levocardia and ambiguous. The two main subtypes of situs inversus are dextrocardia and levocardia, with the third subtype being
situs ambiguous. The differences between the two main subtypes are based on the position of the heart. If the heart is still on the left side yet the rest of
the organs are flipped, it is considered situs inversus with levocardia. However, if the heart is on the right side instead of the left, along with the rest
of the organs being flipped, it is considered situs inversus with dextrocardia, also known as situs inversus totalis, or a 'true mirror image'. Of the two,
levocardia is the most rare, with an occurrence rate of only 1 in 22,000 births ("15 Incredible

Congenital Heart Disease Essay
1)Introduction Congenital heart diseases (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life, (1)
with an annual prevalence ranging from six to twelve affected infants per 1,000 live births. (2)
Several chronic maternal medical conditions, including diabetes mellitus, hypertension, connective tissue disorders, and congenital heart disease confer
an increased risk of CHD in the offspring. (3) Congenital cyanotic heart disease (CCHD) is a cardiac defect which facilitates complete mixing of the
deoxygenated systemic venous blood returning from the tissue and the fully oxygenated pulmonary venous blood from the lung in a common receiving
chamber. (4)
Cyanotic congenital heart defects include; Transposition of the great arteries, Truncus arteriosus,Total anomalous pulmonary venous connection. (5)
Echocardiography is the initial diagnostic modality for a patient with suspected congenital heart disease. In some patients, however, use of this modality
is encumbered by its limited ability to delineate great arteries and intra cardiac anomalies, pulmonary veins, and coronary arteries. (7)
Besides echocardiography, cardiac magnetic resonance (CMR) and Multi–slice computed tomography angiocardiography (MSCT) have gained
particular importance. (8) The presence of image degrading artifacts from implanted metal, such as intravascular stents and embolization coils; higher
cost; limited availability; contraindication in imaging of

How Does the Embryo Take Form and Differentiate to Become...
Throughout this discovery process there have been many questions that have guided the scientific community towards finding answers. One of the
earlier questions was "how does the embryo take form and differentiate to become an organised organism?"
This question began to be answered in 1924, when H Spermann and H mangold published a paper describing their experimentation with newt
embryos. They discovered that by taking the dorsal lip and transferring it to the ventral side of a new embryo; it would form a new embryonic axis by
instructing surrounding cells to undergo neutralisation and dorsalisation alongside a pre–existing embryo (Spermann & Mangold, 1924). The reason
this had such large implications was because it proved that the ... Show more content on Helpwriting.net ...
This was achieved by undertaking a whole mount in situ hybridisation of mice embryos at the 6.0–9.5 d.p.c stage (Meno & Saijoh et al, 1995). In doing
so they were able to discover the role lefty plays in left right asymmetry
Nobutaka Hirokawa 1998
They were able to prove that the motile cilia in the node where in fact motile through the use of electron microscopy and show the cilia beating the
extra–embryonic fluid in a leftward direction, which they named the nodal flow (Nonaka & Tanaka, 1998). Furthermore, they were able to emphasise
the important role of KIF3B in L–R determination (Nonaka & Tanaka, 1998). A number of methods were used to show this discovery. Embryos were
analysed during a whole mount in situ hybridisation, and also by histological techniques (Nonaka & Tanaka, 1998). To view the nodal cilia, fluorescent
microscopy using a confocal laser microscope, and immunoelectron microscopy using electron microscopy was used without electron staining
(Nonaka & Tanaka, 1998). Electron microscopy was also used with electron staining to view the embryo (Nonaka & Tanaka, 1998). Fluorescent latex
beads were used to visualise nodal flow, and the image was projected to a camera, where the fluoresced beads could highlight the nodal flow and
differentiate it from all other structures (Nonaka & Tanaka, 1998). By comparing wild type mice with KIF3B–deficient mice that lacked nodal cilia,
they were able to show the importance of the motile cilia, and that the initial break

A Short Note On 13, And Patau Syndrome
Trisomy 13, or Patau Syndrome, is caused by the presence of three chromosome copies on chromosome 13. An extra copy of chromosome 13 causes
the majority of cases. Some cases are caused by a Robertsonian translocation between chromosome 13 and other autosomes such as chromosomes 15,
21, and 22. According to Bishra & Clericuzio "Trisomy 13 is the third most common autosomal trisomy, with an incidence of 1 per 10,000"
(Bishara & Clericuzio, 2008, p. 30). It is comprised mainly of defects of the eyes, nose, lips, forebrain, holoprosencephaly, polydactyly, and narrow
hyperconvex fingernails, and skin defects of the posterior scalp. The median age of survival is seven days, with over 90% of affected patients dying
within the first year of life (Jones & Casanelles, 2014). Common causes of death include cardiac arrest, complications of congenital heart disease, and
pneumonia. Those that survive the neonatal period have an average length of stay in the neonatal intensive care unit (NICU) of 10 days. According to
studies, almost one quarter of patients have at least one type of surgery in the neonatal period. More than half of fetuses with trisomy 13 spontaneously
abort. Most survivors have severe intellectual disability, seizures, developmental delay, and failure to thrive. The incidence is slightly higher in females
compared to males.
The etiology of this disorder is trisomy of chromosome 13. Although most children do not survive longer than one year, it is one of the

Sitis Inversus Essay
First seen and recognized in 1643 by Marco Severino, dextrocardia with situs inversus is a rare condition that affects 1 in 10,000 people, or 0.1% of
the population. The word, sitis inversus is a shortened latin version of sitis inversus viscerum, which means inverted position of the internal organs. The
heart and organs are completely flipped (or "mirrored") opposite of what they normally should be. Even though it's a rare condition, those who do have
it can have some health issues that can be serious, and others may not have issues at all.
It is a congenital condition and believed to be transmitted by autosomal recessive genes from the parents, meaning each parent has to have this trait in
order to pass it off to the offspring. If the embryo receives only one gene, then that person will be a carrier of the condition but not physically have the
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To start at the top with this condition, the apex of the heart in a normal patient points towards the left (levocardia) but with this condition, the apex of
the heart actually points to the right (dextrocardia) side. The right atrium is on the left and the left atrium is on the right with about 80% of these
patients having a right–sided aortic arch. In addition to the heart being backwards, the organs of digestion are also backwards too. The liver is on the
left, along with the gallbladder, and the spleen and stomach are on the right. Sometimes these patients are born without a spleen.
Another issue to watch out for are abdominal obstructions. Due to the organs being backwards, some patients born with this condition may not have
properly formed digestive organs, called malrotation. An abdominal obstruction prevents waste from moving through the intestines as it normally
should and leave the body. With an abdominal obstruction, it can be life threatening and require surgery to correct the obstruction before any further
damage is

Synopsis Of Acute Bronchitis Case Summary
Synopsis A 75–year–old woman with acute bronchitis ruled out pneumonia and had no other specific symptoms. The purpose of this exam was to that
it was demonstrated that the patient had acute bronchitis. Initially looking at the image, it appeared as if the patient had situs inversus of her heart.
The patient also exhibits a large diaphragmatic hernia on the left side of her lung field which has caused the heart and mediastinum to shift to the right
side. However, when we investigated into the patient's past medical history and she has had this diaphragmatic hernia for a considerable length of time
which caused the appearance of her heart to be on the right side instead of the left. The aesthetics of this image is nicely achieved with the

Genetic Changes In Baby
There are many possibilities that can happen during the nine months that make a child. During those 9 months in the womb, there can be changes in
the process of creating the baby. Usually the chance of having a baby with a disorder is about one in several thousands or millions. These disorders
are illnesses caused by changes in a person's DNA. Genetic disorders make people unique from others.
Hypohidrotic ectodermal dysplasia is a rare disorder that not many people get. Before birth, there is abnormal development of structures in the baby.
They include the skin, hair, nails, teeth, and sweat glands. There is a mutation in the DNA. In a case of this disorder, thegene, TP63, changed.
Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal internal body. The cilia we have spins,
sending the organs where they need to be. In this case, the cilia didn't spin at all. This caused all of the organs to go to the wrong place. Everything that
should've went left, went right. This condition can also be inherited. ... Show more content on Helpwriting.net ...
Mutations of the GL13 gene during development is known to cause this disorder. It is known to be involved in the patterning of tissues and organs. It
helps by helping to control whether specific genes are turned off or on. This condition can also be inherited.
There are several types of genetic disorders. They all happen when a gene takes a turn during conception. Not everyone is born with a disorder but
those who are have or more abnormalities in the genome. Genetic disorders may be hereditary, but others may be the first ones to ever have a their
type of condition. No matter what the case is, everyone is human, but some have a little twist to their

Malanie Gaydos Genetic Disorder
From just a simple ova to a new born baby the journey to get there isn't always short and simple . They will evolve to one the most complex
organisms on the planet. Although some have a successful journey, some undergo wrong turns. Some processes are disrupted. They create disorders
and many are formed the first weeks of growth. For example, a Brazilian family with a genetic disorder named The sonic hedgehog protein. This
disorder affects the size and number of fingers. When the bones and cartilage start to build up did Jean mutate and activate. The family and doesn't
mind the extra finger. They see it as an advantage. Although, one of the family members have to get a special gloves to play baseball. Furthermore,
another genetic condition called situs inversus. This condition is caused by a non–active cellular process. Some orders on the opposite side of the body
like a mirror. Randy Foye was one individual with this disorder. His heart and liver we're on opposite sides of the body. He is living with no problems
or difficulties and his gene wasn't passed to his daughters.... Show more content on Helpwriting.net ...
And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created
failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has
learned to embrace this disorder and is now living her

Ectodermal Dysplasia Research Paper
In this world many things can happen. One of the most interesting things is that we can get disorders in the womb. These disorders can be good, bad,
or it doesn't change a thing. Most of these disorders all start from a small cell that creates us all. The only thing that's different is that there was some
kind of change in genetics.
In New York, Melanie Gaydos has a very unique disorder. She was diagnosed with Ectodermal Dysplasia. Ectodermal Dysplasia is genetic disorders
affecting the development or function of the teeth, hair, nails and sweat glands. The people that have this, have sensitive skin, hair loss, and hardly
any teeth. This disorder started in the womb at two weeks and two days (16 days). Doctors did an exam on her and found a ... Show more content on
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It all started at two weeks and five days (19 days), when she inherited two copies of her father's growth gene. This gene told her body to grow twice as
big in the womb. This makes her body overproduce a hormone of growth. This puts her at the risk of cancer because cells divide fast, which can
cause tumors. Her kidneys are most at risk, because there were abnormalities in the kidneys. Doctors thought she might develop a tumor, but she
didn't. At seven years old, she went to get her kidney checked up and everything seemed fine. At seven years old, her growth starts to level off.
In Denver, famous basketball player, Randy Foye was diagnosed with Situs Inversus. It all started around two weeks and five days (19 days), when
your cilia is supposed to spin, sending your organs to their place. His cilia didn't move at all and his left gene became a right gene and vice versa. The
inside of his body became a mirror image. This condition can be inherited. This happens in every 1 per 10,000 people. In some cases, not all organs
switch, Randy was very lucky. If only a few organs switched sides. His heart would be affected for life. This is fatal for 30% of embryos with this

Clinical Note On Clinical Disorders
Clinical vignette
A fifty–two–year–old white male visited his physician because he started experiencing shortness of breath on walking short distances at ground level.
He had smoked half a packet of cigarettes daily for 40 years. Physical examination revealed a loud fourth heart sound and a blood pressure of 147/95
mmHg. Chest examination and chest X–ray were unremarkable, and ECG showed left atrial abnormality. The patient had normal serum electrolytes,
blood sugar, and kidney function tests. A stress echocardiogram was ordered to exclude potential coronary artery disease (CAD). His resting
echocardiography showed an ejection fraction (EF) of 60%, normal septal and posterior wall thickness, and mild diastolic dysfunction [septal early
diastolic mitral annular velocity (e') of 7 cm/s, early diastolic (E–wave) to late diastolic (A–wave) transmitral Doppler flow velocity ratio (E/A) of 1.4,
E–wave deceleration time of 210 milliseconds, and E/e' ratio of 9]. There were no resting segmental wall motion abnormalities suggestive of ischemia.
The patient exercised on a treadmill using Bruce protocol for 4 minutes and 43 seconds, and achieved 6.6 metabolic equivalent of task (MET) and
maximum heart rate of 148 beats/minute (88% of his maximum age predicted heart rate). At peak exercise, the patient developed severe dyspnea and
his blood pressure was 213/90 mmHg. Post exercise echocardiography was acquired within 1 minute of exercise termination with Doppler recordings
obtained at

Developmental Issues Research Paper
Development.A procees that takes nine months to create the people we see today.Sometimes while the developmental process is happening there is an
issue that causes specific functions of the body not to work.These developmental issues are more common than not. Developmental issues vary with
person.It can causes changes of skin,hair,limbs,and even organs. There is a genetic disorder called Ectodermal Dysplasia. Its not a single disorder, but
a group of closely related conditions of which more than 150 different syndromes have been identified.It effects the hair,skin,nails,and teeth.Teeth
shatter never fully able to grow,the persons hair grows inwards never being able to grow hair on the outside, and the nails also arent able to
completely.There

Research Paper On Kartagener's Syndrome
Kartagener's syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the
parents' genes responsible for encoding the cilia's structure are mutated. This presentation will focus on the etiology, clinical manifestations and
anatomic alterations of Kartagener syndrome while also exploring diagnostic and treatment modalities. Kartagener syndrome was diagnosed by a
Swedish physician Manes Kartagener in 1933. It is a relatively rare syndrome with each child of the affected parents has a twenty–five percent chance
of developing the syndrome, estimated 15,000 people in the United States have it. Kartagener's syndrome often presents as a newborn suffering from
mild to moderate... Show more content on Helpwriting.net ...
Situs inversus occurs in about 50% of congenital bronchiectasis, beginning during ebryonic ciliary movement which is vital to the normal function and
proper placement of the chest and abdominal organs. Ineffective ciliary function essentially leads to the neonates organs becoming flip–flopped. There
are many different ways to diagnose Kartagener's syndrome which include genetic testing, microscopic analysis, bronchoscopy, chest radiograph and
pulmonary function test. Although Kartagener's syndrome is not curable many treatment modalities are available to give patients a near normal life.
Treatment options include mucus clearance, medications, and preventative modalities. These include high–frequency chest wall oscillator vest,
bronchodilator and Beta 2 antagonists, mucolytics such as humanDnase aand N–Actelcysteine, as well as prophylactic therapy. As a respiratory
therapist knowing about this syndrome could be very beneficial to the care of patients. Although not extremely common throughout our careers as a
Respiratory Therapist there is the potential that we come across patients with this syndrome. My presentation would introduce therapists to the basic
concept of the

Melanie's Cells: A Short Story
Across the planet, four times every second, a new human is conceived. In just nine months, a single cell no bigger than a speck of dust transforms
into the most complex organism on earth. There are many events that shape and define us long before we're born. Right from the start, it's a journey
full of surprises. There are many things that make you who you are today. At 2 weeks, Melanie's cells first started the miraculous transformation
process of changing into the specialized cells that form all the parts of her body. At magnificent speed, cells begin to migrate forming three layers.
Each of the layers are assigned to build something, the top layer are the cells that make skin, hair, teeth, and brain. When the cells in Melanie's surface...
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The genes from our father are programmed for growth, to make us big and strong. But our mother's genes are designated to restrict how big we
become, because she needs a baby small enough to deliver. The extra gene Nell inherited from her dad means she over–produces a hormone that tells
her body to grow. This is why she is extremely tall. Around day 19, cillia, a hair–like structure that gives directions, spring into life. On very rare
ocasions, our organs don't end up where they should. Randy has a rare condition called situs inversus, which only happens to one in every 10,000
of us. In Randy's case, the moment when is cillia were supposed to spin, sending his organs to the right place, they didn't spin at all. Without his
cillia to direct things, his left gene somehow became a right gene instead, and everything that should've gone left went right. From just a single cell, a
series of moments of development have been adding up. While we all followed the same path through our first eight weeks in the womb, we all did it
in our unique way. Each one of us is defined by this extraordinary time in our development, a time that continues to affect us all. From our first breath
to our very

Emergency Medicine Admission Essay
Emergency Medicine became a potential career option for me after I obtained my Emergency Medical Technician Basic Certification the year before I
entered medical school. I worked full–time in the emergency department as a patient transporter, which gave me the privilege of witnessing and
participating in the daily work of the physicians and nurses.
My shifts were ten hours long, four days a week, and I took it upon myself to speak with patients and physicians whenever I had the chance. Two new
doctors, who had just finished their residency training, began their first jobs the month I had started mine. As I began inquiring about some of the
things I saw and heard, they could not help but notice my burning desire to learn more about the practice ... Show more content on Helpwriting.net ...
They shared my enthusiasm when they weren't overwhelmed with critical patients and treated me as an enrolled medical student. They pointed out
X–ray findings and ECG strips of some significance unknown to me at the time, If they had an interesting patient they would introduce me and request
permission for me to observe. I recall one of the physicians quizzing me about a patient who had a true "situs inversus" on her chest X–ray, and I will
never forget my conversations with a young man with signs and symptoms consistent with new–onset Lyme Disease.
The fact that I remember these specific scenarios is only testament to my impressionable nature at the time. I am truly grateful for the time spent
learning with those physicians, nurses and patients. Their encouragement and feedback helped prepare me for medical school in ways I could not have
calculated, and my time with them seems very brief in retrospect.
When I did get accepted about eight months into the job, they cheered for me and told me how proud they were of my accomplishments. On my last
shift, one of the physicians presented me with a new copy of Netter's Human Anatomy Atlas which had been signed on the inside cover by all the
emergency doctors, much like a high school yearbook. I cannot imagine a more satisfying and inspirational welcoming into the field of

Symptoms And Treatment Of Kartagener 's Syndrome
Kartagener's syndrome is an autosomal recessive disorder affecting the cilia within the body. Autosomal recessive means that one or more of both the
parent's genes responsible for encoding the cilia's structure are mutated. This essay will focus on the etiology, clinical manifestations and anatomic
alterations while also exploring diagnostic and treatment modalities. Cilia are the tiny hair–like structures found in many organ systems including the
respiratory and reproductive systems. It was diagnosed by a Swedish physician Manes Kartagener in 1933 (). Since Kartegner's syndrome is a
autosomal recessive disorder each child of the affected parents have a twenty five percent chance of developing the syndrome. According to
Zariwala,"it is estimated that in the United States, there are 12,000 to 17,000 people who have the condition" (Zariwala). Kartagener's syndrome often
presents as a newborn suffering from mild to moderate respiratory distress. As the neonate transitions into extrauterine life, tachypnea and the need for
supplemental oxygen is often apparent. Many babies affected by the disease also have persistent crackles or rhonchi when auscultating their chest.
Some patients may also have an wheezes similar to patient's with asthma(BergstrГ¶m, Sten–Erik). This is caused by the inability for the neonate to
clear the secretions from their airway. When performing a physical assessment of the chest you will often find that there is a hyper resonant percussion
note, as well

Primary Ciliary Dyskinesia ( Pcd )
Primary Ciliary Dyskinesia (PCD) is a rare, heterogeneous and largely autosomal recessive disorder. The disease can be caused by different genetic
mutations that will result in the same genetic disorder. Currently, there are more than 20 genes with mutations that can cause PCD. In order for the
patient to develop this congenital disorder, two copies of the mutated gene, one from each parent, must be present. Abnormal characteristics include
both the function of the motile cilia and the structure, although the structure may also be normal (Boon et al.). The cilia in the airway do not move the
mucus out and this causes infections due to the mucus accumulation. Another component of this disease is upper and lower respiratory tract infections.
Patients are being misdiagnosed due to the fact that their symptoms are common and that they are found in other conditions. PCD is often diagnosed
late even though the disease is present during birth. Common symptoms of this disorder include rhinorrhea, chronic productive cough, rhinosinusitis,
inflammation of the middle ear and prolonged discharge from the ear. Most patients will have extra testing done to rule out similar respiratory
conditions, such as a sweat test and serum immunoglobin measurements. Symptoms or conditions that suggest PCD are situs abnormalities, positive
family history, idiopathic bronchiectasis, agenesis of one or both sinuses, male infertility, ectopic pregnancies and, diagnosis in other family members,
(Bush & Hogg). According to the PCD Foundation, there are about 400,000 people worldwide with PCD and an estimated 25,000 in the United
States. The PCD foundation states that very few patients have been identified due to the fact of the difficulty in diagnosing the disorder. Knowles et al.
indicated that "the prevalence of PCD in the United States is difficult to determine largely due to inadequacies of diagnostic measures. There are fewer
than 1,000 patients in the United States with a well established diagnosis of PCD". In relation to race, ethnicity, heritage or gender there is no
identifiable at risk group (PCD Foundation). There are prevalent features that should alert clinicians

Kartagener's Syndrome Research Paper
Kartagener's Syndrome (PCD)
Structure and Function: The cilia organelles are found in eukaryotic cells. Cilia are made up of microtubule–based cytoskeleton called the axoneme and
multiple proteins. The function of the cilia is to keep passageways clear of any mucus and foreign particles. 38
The disease and how the organelle malfunctions: Kartagener's syndrome is a rare hereditary genetic disorder. This disorder affects the respiratory tract,
middle ear, fallopian tube, and the flagella of sperm cells. This disorder starts in the embryologic phase of development. The diagram shows you the
main internal structure and anything missing or deformed in the central microtubules to the dynein arms causes the protein to not properly link together.
The lack of movement causes there to be little to no mucus clearance in the lungs. One symptom of Kartagener's syndrome is chronic or recurrent
respiratory diseases. The respiratory diseases start off when the patient is young, but as the patient gets older the respiratory diseases get worse.
These diseases cause progressive damage to the respiratory system. Some other symptoms of Kartagener's syndrome is hearing loss and loss of smell.
Hearing loss and loss of smell is due to the buildup of mucus in the respiratory tract. 104
Diagnosis and prognosis: The earliest that this disorder can be diagnosed at is birth, if the newborn experiences respiratory distress or needs
respiratory therapy. Kartagener's syndrome is most often diagnosed in early childhood. If the child has recurring ear infections, chronic sinusitis, or
chronic respiratory infections with no obvious cause the doctor will then check for PCD or Kartagener's syndrome. There are several different
ways that a doctor can diagnose you for Kartagener's syndrome. One way to test for Kartagener's syndrome is to do a breathing test. People with
this disease breath out less nitric oxide. Other ways are to do a tissue biopsy, semen analysis, or imaging scans. The disease causes you to be
vulnerable to all different types of respiratory diseases. People with Kartagener's syndrome can have multiple respiratory diseases

Appendectomy Essay
APPENDECTOMY
An appendicectomy (or appendectomy) is the surgical removal of the vermiform appendix. This procedure is normally performed as an emergency
procedure, when the patient is suffering from acute appendicitis. In the absence of surgical facilities, intravenous antibiotics are used to delay or avoid
the onset of sepsis; it is now recognized that many cases will resolve when treated non–operatively. In some cases the appendicitis resolves completely;
more often, an inflammatory mass forms around the appendix. This is a relative contraindication to surgery.
APPENDICITIS
Appendicitis is inflammation of the appendix. It is thought that appendicitis begins when the opening from the appendix into the cecum becomes
blocked. The ... Show more content on Helpwriting.net ...
Ultrasound can identify an enlarged appendix or an abscess. Nevertheless, during appendicitis, the appendix can be seen in only 50% of patients.
Therefore, not seeing the appendix during an ultrasound does not exclude appendicitis. Ultrasound also is helpful in women because it can exclude the
presence of conditions involving the ovaries, fallopian tubes and uterus that can mimic appendicitis.
Barium Enema
A barium enema is an x–ray test where liquid barium is inserted into the colon from the anus to fill the colon. This test can, at times, show an
impression on the colon in the area of the appendix where the inflammation from the adjacent inflammation impinges on the colon. Barium enema also
can exclude other intestinal problems that mimic appendicitis, for example Crohn's disease.
CT Scan
In patients who are not pregnant, a CT Scan of the area of the appendix is useful in diagnosing appendicitis and peri– appendiceal abscesses as well as
in excluding other diseases inside the abdomen and pelvis that can mimic appendicitis.
ANATOMY AND PHYSIOLOGY
The appendix (or vermiform appendix; also cecal (or caecal) appendix; also vermix) is a blind–ended tube connected to the cecum (or caecum), from
which it develops embryologically. The cecum is a pouchlike structure of the colon. The appendix is located near the junction of the small intestine and
the large intestine.

The term "vermiform" comes from Latin and means "worm–shaped".
Size and

Functions Of A Cilia Of Cilia And Contractile And Motor...
The various known functions of a cilia are to circulate fluids, move eggs into the oviduct, line air passages to sweep out mucus that contain bacteria,
and many more (Erster Lecture 6). Cilia are about 2–20 um long, and they are extensions of cells that perform in locomotion (Campbell pg. 12). They
can be found in multiple eukaryotes such as Paramecium (which are found in pond water) to humans. In the single–celled organism, Paramecium, the
cilia helps propel it through the water. As for humans, the cells in the our windpipes are lined up with cilia and they prevent the lungs from bacteria
by sweeping a film of debris–trapping mucus upward (Campbell pg. 12). Various proteins within the body has they own function, and the contractile
and motor proteins are responsible for the movements of cilia and flagella (Campbell pg. 76). CIlia must be motile in order for them to perform their
functions, thus when the cilia are immotile, a syndrome known as Kartagener 's develops through the rare genetic disorder of the immotile cilia. Since
cilia deals with motion, when males are afflicted with Kartagener's syndrome they become sterile from the immotile sperm, and they often also suffer
from lung infections (Campbell pg. 118). However, this syndrome can also affect females. It can lead to infections at the nasal sinuses and bronchi for
both genders. An interesting effect of Kartagener 's is situs inversus, which is the "reversal of the normal left–right asymmetry of the organs in the

Nine Months Research Paper
Nine months is all it takes to create every single human living on this planet . Nine months and in that time you turn from something as small as a
seed to a newborn baby . During this whole cycle and amazing journey we are all made to be unique and different from everybody else . There is
only one you in this planet which has characteristics that make you who you are. Some of these characteristics happen in the womb which can affect
your whole life. Situs inverses , Ectodermal dysplasia, and Sonic hedgehog are just a few examples of genetic conditions that have a complete impact
on one's life. Situs inversus is a reversal of organs in a humans body. According to an article in journal Heart Views, this condition occurs in an
estimated 1... Show more content on Helpwriting.net ...
This disorder is caused by altered genes. Altered genes can be inherited or normal genes can change over time. Someone cannot control what type of
genes you get and therefore you can't change who you turn out to be. According to the National Foundation for Ectodermal Dysplasia, more than 180
different types of ectodermal dysplasia exist. Sonic Hedgehog is a protein that plays a role in cell growth, cell specialization, and shape of physical
state. This protein is important in the embryonic development. Sonic Hedgehog is also involved in a genetic condition called polydactyly. Polydactyly
can be passed down from family to family. This trait involves a gene that can cause several variations like for example, an extra finger . Having an
extra finger can definitely add to something unique about you. In conclusion, some of us are chosen to be born with something different from
everybody else. Good or bad it can only affect a few people. Whether it's inherited or caused by your genes this feature gives us a sense of who we
are. Not everyone can say they have mirrored organs or an extra finger. Although we all go through the same process to be made something along the
way can have a huge impact on

The Case Of Randy Foye, Melanie Gaydos And The Dasilva Family
Since the moment you are created in the womb, you are being made with your own characteristics. Everyone is unique in their own way, but in
some cases what makes them unique can be quite impressive. The moment a single cell takes an unexpected turn can lead to the formation of a
special person. This was just the case for Randy Foye, Melanie Gaydos, and the DaSilva family. Randy Foye may look normal to you, but what is
different in him cannot be seen in the outside. Randy was born with situs inversus. Situs inversus is a condition where your organs are reversed. Aside
his condition Randy has been very successful in his career as a basketball player. Although there could be a risk of him developing an internal sickness
easier than others

Isolated Dextrocardia
Dextrocardia is generally a condition where the heart is in the right thoracic region versus the left. The condition can result in normal heart being a little
further to the right in the chest than normal, as well as a deformed heart in the right region of the chest and an anatomically mirrored heart in the right
thoracic region instead of the left. All dextrocardia is congenital and less 1% of the population has this condition. Most dextrocardia patients have
recurring health issues throughout life due to the anatomical abnormalities. An even smaller number of that 1% with dextrocardia has isolated
dextrocardia. Isolated Dextrocardia is a healthy heart that is located in the opposite side of the chest and is usually seen with situs inversus, ... Show
more content on Helpwriting.net ...
Defects and problems with vital organs can be remedied through installing a pacemaker, surgery to repair septal defects, abdominal surgeries to correct
obstructions/damaging anatomical issues in the thoracic and abdominal area. Abdominal obstructions are serious and if not monitored and treated are
life threatening. However not all patients need extreme medical procedure, like surgery, because of the complications that come with dextrocardia. In
many cases antibiotics are prescribed to boost or maintain the immune system because of the increased probability of respiratory illness as a result of
asplenia and respiratory malformations. On average people with dextrocardia contract infections more often but overall dextrocardia, even in
complicated cases, is manageable with the right care, information and medical

Narrative Essay On Cardiac Arrest
60% Rough Draft Late in the fall of my sixteenth year, my heart stopped functioning and I went into cardiac arrest. One might think that a medical
phenomenon like this is next to inconceivable, but despite the improbable conditions, I was part of the 0.1%.
I was born with a rare heart condition called dextrocardia, also known as situs inversus. My heart and all of my other organs are mirrored on the
opposite side of my body, so instead of having my heart on the left side of the body like the other 99.9% of the human population, it's positioned on the
right side. Because of this, I've had health problems all my life. And with health problems comes financial problems.
My father left us when he found out how much money his three–year–old daughter was costing him between surgeries, physical therapy, and weekly
examinations. That left my mother with the burden of taking care me. She went to work, did all the housework, and never once scowled, or caused
anyone any trouble and was kind to everyone. However my aunt always hounded her for money and made excuses about why she was in need. My
mother financially supported her, doing part–time ... Show more content on Helpwriting.net ...
He had been watching the few moments I had conversing with him at the support group and hoped that I could have someone to talk to. As much as he
forced interaction between us, Toby and I grew together instantaneously. Doctor Gordon would walk in every few hours, checking in on us and acting
out of character– much like a hyper, optimistic school counselor. We spent the rest of the afternoon helping Toby settle in and playing board games
as well as doing other activities to get to know each other better. After a few hours of getting used to each other, he admitted that he requested a
room change to be closer to me. So he was hitting on me. I didn't mind. I was amused by the way he flirted. It was cute, but his charm got a hold of
me and soon enough our feelings were

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