Noonan Syndrome Essay

Anderson Quillan Syndrome (AMS) is a rare disease with a prevalence rate of 300/100,000 as determined by a recent ecological study. There is speculation that AMS is a consequence of certain exposures, namely increased tea or chocolate consumption and smoking. There is a possible genetic link, but not all AMS patients exhibit this genetic risk. A case-control study (CCS) is proposed in which AMS cases are compared to two control groups. Control group C1 are living genetically related family members of AMS patients and control group C2 is a more diverse cohort of non-AMS subjects without known family history of AMS. The primary goal is to determine whether there is an association between the named exposures and AMS. The secondary goal is to determine whether the presence of a known family history of AMS is a confounder.

"Trisomy 13." National Institutes of Health. U.S. Department of Health and Human Services, 17 Mar. 2016. Web. 17 Mar.

Joseph is middle age Caucasian male who has suffered a heart attack. This may have been caused by him not taking care of his body properly. Joseph is already at high risk for heart disease due to a family history if vascular disease. He has also been stressing, an increase in weight, not exercising, and unhealthy eating. These things could all

Individuals with this disorder further acquire congenital heart defects. It specifically blocks off the natural blood flow from the lungs and right chamber of the heart and/or causes an anomalous gap in the barrier that divides the heart chambers in two. Another symptom of this disorder are the problems involved in the digestive system. People who have this syndrome are

Noonan Syndrome is the result of a chromosomal abnormality. This specific type of abnormality can only be detected by deep molecular testing of the parents and the offspring who has been affected by Noonan syndrome. Detection then becomes a tricky process as the signs and symptoms of the defect can be misdiagnosed as their individual appearances. A short stature can be seen as just a physical abnormality, the same for eye spacing and other physically noticeable attributes. The heart diseases can be seen as completely separate problems as well. For this reason cases of Noonan syndrome can persist into a person 's adult life completely undiagnosed. Detection therefore relies on the parents being genetically tested before ever conceiving.

In the Article Common Genetic Disease Linked to Father’s Age scientist from the University of Southern California observed new cases involving the Noonan Syndrome. In their study, they noticed that more cases of this disease are becoming more common in older men. Noonan Syndrome, formally heard of as the Turner-like Syndrome is a genetic mutation that affects many areas of the body. According to the article, “The disease can cause facial abnormalities, short stature, heart defects, intellectual disability and sometimes blood cancers.” More importantly, What is the cause of this disease? And, Why is it becoming more common? In some cases, an affected person inherits the mutation from its parent. However, scientist have found that in other

We can diagnose through therapy showing evidence of limitation or with lab tests that use direct sequencing on the CHN1 gene to look for mutations. The syndrome can be aided with therapy and surgery although no surgery has been proven to completely eliminate the symptoms of the syndrome but they do help. Boston’s Children Hospital is researching to more understand the genetics behind Duane’s Syndrome that includes radial ray anomalies. They have traced it back to Chromosome 20 and even identified it, they identified it as SALL4(Duane Syndrome Pediatric Research and Clinical Trials). This can help the way we diagnose, treat and maybe even prevent it in the

Noonan Syndrome is an autosomal dominant disorder, which is inherited by the mutation from one affected parent. So it is not like someone choses to have this disorder, it just gets passed down to them. Since this disorder is caused by a mutation in the genes, there are some other cases that result from

For infants suffering from the lethal neonatal form of the condition, most could not survive their first year. For those sufferring from the serious infantile hepatocardiomuscular form, they are more prone to developing fatal heart issues and having a shortened lifespan with varies medical concerns. For those with the myopathic form of the condition, they mostly have a normal lifespan despite occasional problems with their muscles. The aforementioned form is typically within good control and would enable the affected individuals to lead a life of good

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

This research was conducted to demonstrate the usage of allopurinol can result in Cutaneous Hypersensitivity reaction. Stevens Johnson’s syndrome (SJS) is a cutaneous hypersensitivity reaction which occurs in 3-5% of hospitalized patients.1 These severe cutaneous adverse reactions are characterized by epidermal necrosis, extensive detachment of the epidermis, erosions of mucous membranes and severe constitutional symptoms.4 Despite the Low incidence, SJS has a high mortality rate as stated by BMC Medical Genetics. According to Pharmacogenetics Genomics, Medications are considered to be the major cause of Stevens Johnson’s syndrome (80%). The most common medication is Allopurinol. Allopurinol, an inhibitor of xanthine

Most people with WS are happy as they are outgoing and extremely social. People with WS need to be closely monitored for their heart, because heart problems are quite common in this syndrome. SVAS or supravalvular aortic stenosis, is the narrowing of blood vessels and the Aorta. This may cause heart failure, breathing problems, and chest pain. And surprisingly, only 1 in 10,000 people get this syndrome. But with all the upsides and helpable things, this disorder is negative as it could kill if not treated. Many symptoms if not treated can be fatal. Symptoms include Scoliosis (a curved spine), abnormally small head, ADD (Attention Deficit Disorder), farsightedness, sunken chest, development delays, and trouble gaining weight as a baby.

With the completion of the Human Genome Project rapidly approaching, the scenario becomes even more farfetched. Don't want your child to need braces? Why then you can just pull out the gene for crooked teeth and replace it with the gene for a perfect smile. Does diabetes run in your family? Well then just check out your unborn child is a carrier for the disease and remove the gene

Kim's progression into other developmental stages was mainly determined by the kind of care she received during her early childhood. She developed oral fixated behaviors that were evident in the later stages of her life because she was born into an unhappy marriage in which her parents were constantly yelling at each other. The unhappy marriage and constant yelling of her parents hindered the provision of consistent care. As a result, her individual experiences during this stage did not promote feelings of safety and security.

If a treatment is implicated before the child is born – germline gene therapy – he or she could lose all trace of that defective gene, and therefore wouldn’t pass the disease on to future generations. In somatic gene therapy, treatment is conducted when the patient is an