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...
... middle of paper ...
...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
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. .
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.
...rmeulen A, Kho TL; Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001 Jan 13;357(9250):138-40. Available at: http://www.ncbi.nlm.nih.gov/pubmed/11197415?dopt=Abstract Accessed 8th July 2010
lip, skin folds at the corners of the eyes, indistinct groove on the upper lip, and an
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.
When a mother finds out she is pregnant it is a wonderful experience. Most people are excited to see their first “picture” of their baby, the ultrasound. Even more exciting is getting an ultrasound to find out the sex of the baby. But ultrasounds are useful for more than just getting that first image of the fetus or finding out whether it is a boy or a girl. While it is something most parents dread finding out when pregnant, an ultrasound can also detect a birth defect. There are many different birth defects that can be detected by an ultrasound during pregnancy like Spina Bifida, Down syndrome, and abnormalities with the heart and lower urinary tract, and the importance of detecting them with an ultrasound is shown in the benefits of discovering the birth defect early, and the options it gives the parents after discovering the birth defect.
17. American College of Medical Genetics Clinical Practice Committee. Statement on multiple marker screening in pregnant women. American College of Medical Genetics College Newsletter, January 1996;6.
1 in every 800 live births. It is often diagnosed in early infancy by the examination of specific
Mahdieh, N. & Rabbani B. (2013). An Overview of Mutation Detection Methods in Genetic Disorders. Iranian Journal of Pediatrics, 23(4), 375-388. PMCID: PMC3883366
One in every thirty-three babies is born with a handicap (“Data & Statistics”). The test for birth defects can be done during pregnancy or after the infant is born (“Data and Statistics”). In 2004-2005, the CDC counted 21 diseases as major birth defects (“Data and Statistics”). The list includes: “Central nervous system defects, Eye defects, Cardiovascular defects, Orofacial defects, Gastrointestinal defects, Musculoskeletal defects, and Chromosomal anomalies” (“Data and Statistics”). 20% of infant deaths are caused by birth defects making it the leading cause of all infant deaths (“Data & Statistics”). These defects can happen as a result of a failed abortion or during a pregnancy after an
MEDICAL DIAGNOSIS: Empyema, Hemoptysis, Necrotizing pneumonia, Aspergillosis (Aspergillus fumigatus) cachexia secondary to malnutrition/infection, hypothyroidism, Diabetes Type II melitius , and...