INTRODUCTION
Alagille syndrome is an autosomal-dominant condition resulting from a mutation in the JAG1 gene in 95% of cases, and less than 1% of cases have a mutation in the NOTCH2 gene. (Wax, Chard, Pinette, & Cartin, 2013). It was originally said to occur 1 in every 70,000 live births, but current research believes the occurrence is more common at approximately 1 in every 30,000 live births. In order for Alagille syndrome to be definitively diagnosed, the “Class Criteria” must be met. Without meeting the “Classic Criteria,” which will be explained in further detail below, Alagille syndrome cannot be diagnosed. The use of sonography during a pregnancy can help to screen fetuses for this condition if there is a family history, and the sonographer knows what to look for.
DISCUSSION
As mentioned above, the “Classic Criteria” must be met in order to definitively diagnose a patient with Alagille syndrome (AGS).
Turnpenny and Ellard (2012) define the “Classic Criteria” as: cholestasis due to bile duct paucity, congenital heart disease (most commonly peripheral pulmonary artery stenosis), the face (mild, but recognizable dysmorphic features), the skeleton (abnormal segmentation, most commonly in the form of the butterfly vertebrae), and the eye (anterior chamber defects, most commonly posterior embryotoxon). (p. 252)
Along with these criteria, there must be a parent who is positive for the JAG1 or NOTCH2 gene mutation since this is an autosomal-dominant condition, and the condition will often be seen in the parent with the genetic mutation. It is important to explain the different aspects of each of the criteria needed to diagnose AGS so the level of severity can be determined.
The most important part of AGS that must be careful...
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...ffected by AGS.
Works Cited
Molinero-Herguedas, E., Labrador-Fuster, T., Rios-Lazaro, M., & Carmaniu-Tobal, J. (2008). Aortic Aneurysm in Alagille Syndrome. Revista Española de Cardiología , 658-659.
Murthy, G. S., Baldev, R. S., Das, A., Thapa, B., Duseja, A. K., Dhiman, R. K., et al. (2012, June). Alagille Sydrome: A Rare Disease in an Adolescent. Springer Science , 3035-3037.
Shneider, B. L. (2012, May). Liver Transplantation for Alagille Syndrome: The Jagged Edge. American Association for the Study of Liver Diseases , 878-880.
Turnpenny, P. D., & Ellard, S. (2012). Alagille syndrome: pathogenesis, diagnosis, and management. European Journal of Human Genetics , 251-257.
Wax, J. R., Chard, R., Pinette, M. G., & Cartin, A. (2013, November). Two and Three-dimensional Prenatal Sonographic Diagnosis of Alagille Syndrome. Journal of Clinical Ultrasound , 1-4.
In most cases, fibrodysplasia ossificans progressiva is missed diagnosed. One of the most common missed diagnoses is cancer because of the tumor like knots when the doctors go in to try to remove the “tumor” they cause more damage because flare-ups typically develop after a person experiences trauma to the body, such as a fall, small bump or even a small burse. Also illnesses, such as the flu may also trigger flare-ups. In one case of FOP they did so much damage that they had to remove the patience arm. Experts estimate that the rate of misdiagnosis of FOP may be 80% or higher.
For medical care, no treatment is needed for those who are asymptomatic, just monitoring for mild symptoms (2). For those who cannot fight the disease as easily as the majority, there are an array of treatments available. To start, blood cultures should be performed in all patients, and sputum cultures should be taken for those with chronic histoplasmosis (2). Chest radiology would be preferred for individuals with acute pulmonary histoplasmosis, steroids and possible laser treatment for ocular histoplasmosis, and CT scans for those with cerebral histoplasmosis (2). With prolonged symptoms of more than 4 weeks, medical therapy via itraconazole is recommended for 6-12 weeks, followed by chest imaging (2). Bronchiectasis caused by the microbe is treated with either a bronchoscopy or surgical removal (3). Phrenological treatments to histoplasmosis include amphorcetericin B, ketoconazole, itraconazole, and fluconazole (3). Currently, antifungal agents are being developed to offer alternative treatment (3). To successfully survive as a pathogen, the virus must change itself on a micro level to survive changing conditions, macrophages, and other threats to the fungi’s reproduction (4). Being able to go from an environmental mold to an intercellular yeast is extremely useful for a microbe in an ecosystem that fights for control of those it infects (4). These advantages present within histoplasmosis are what keeps it as a cause of respiratory and systemic disease in mammals (4). There are plenty of treatments available to accommodate all forms of histoplasmosis, making it a microbe that is very simple to cure, despite how hard it tries to
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
X-linked Agammaglobulinemia, or XLA for short, was the first immunodeficiency disease ever to be discovered. Ogden C. Bruton, the man who discovered it, was studying an eight-year-old boy in 1952 who had very confusing symptoms. He studied the boy for almost four years and was still confused by the randomness of his symptoms. The boy was getting many infections in these four years and Bruton could not figure out why until he decided to investigate the boy’s blood. He found that the boy was not producing the correct antibodies to fight off infection. After further research, Bruton was able to relate the symptoms back to the child’s genes. Long after Bruton had passed, the disease was studied in depth and found to be an X-linked genetic disorder effecting the antibody production in males. It was then named X-linked Agammaglobulinemia or, in memory of Ogden Bruton, Bruton’s X-linked Agammaglobulinemia.
Peterson-Iyer, Karen. "Confronting a Fetal Abnormality." http://www.scu.edu. Santa Clara University, Jan. 2008. Web. 13 Mar. 2014. .
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
Williams, C. A., Angelman, H., Clayton-Smith, J., Driscoll, D. J., Hendrickson, J. E., Knoll, J., Magenis, R., Schinzel, A., Wagstaff, J., Whidden, E. M. & Zori, R. T. (1995). Angelman Syndrome: Consensus for Diagnostic Criteria. American Journal of Medical Genetics, 56, 237-238.
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Marfan syndrome (MFS) is a fairly common inherited connective-tissue disorder. The syndrome can be found in 1 in every 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than 100 years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can play a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an imperative n...
...ve Achondroplasia. Clinical laboratories have available testing for the FGFR3 gene. When a child is diagnosed with Achondroplasia, parents should look for changes in bowel or bladder function, muscle weakness, and asymmetrical reflexes or respiratory problems. Many babies with Achondroplasia have troubles with repeating ear infections. Some may need ear tubes, which are placed into the ear to allow air in the middle ear to help lower the chances of ear infections. Without these tubes, the baby could lose its hearing. The spinal cord can also get compressed, making the upper airway obstructed, and increasing the risk of death for the baby. People with Achondroplasia also have breathing problems, during this breathing either stops or slows down for short amounts of time. ("GeneFacts")
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
If one wanted to know their chance of carrying or having the disease creating a punnet square could help determine that. A normal person without Albinism or the presence of the allele melanin can be represented by capital “A” and another allele that represents the lack of melanin will be represented with lower case “a”. Since Albinism is an autonomic recessive disease, this means a person with a homozygous recessive gene will have the disease. Both parents must be heterozygous dominant and carry the allele; they will have a 25% chance of having a child with albinism and a 70% chance of having a child carrying the disease. If one parent is heterozygous that still carries the flawed gene and the other parent is homozygous dominant there will be a 50% chance their child will carry the disease but wont have a child with Albinism.
MEDICAL DIAGNOSIS: Empyema, Hemoptysis, Necrotizing pneumonia, Aspergillosis (Aspergillus fumigatus) cachexia secondary to malnutrition/infection, hypothyroidism, Diabetes Type II melitius , and...
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
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