Acobsen Disorder Research Paper

My results indicated that I’m heterozygous to carrying Jacobsen syndrome trait. I’m homozygous to having or passing along with brownish eyes and carrying hypertension (or susceptible to getting it). Jacobsen syndrome is when a

Gigantism is a condition characterized by excessive growth and height, particularly targeting the person’s appendages. Gigantism is also known as acromegaly if the condition persists into adulthood. The prefix acro- means extremity while the suffix -megaly means enlargement. Normal amounts of growth hormone are secreted by the pituitary gland using the negative feedback system. Dealing with endocrinology, gigantism is primarily caused by a tumor growth on the pituitary gland (Wisse, 2015). This creates a surplus of the human growth hormone typically secreted during puberty. If left untreated, the persons affected can expect a lowered life span. Despite the abnormal height and elongated appendages, the person’s affected can expect to be self-sufficient.

Although there are several preferred treatment methods, there is no cure. There are some who may come out of it after years of dealing with this disorder but most will not.

There is no cure for cystic fibrosis, however treatment can ease symptoms and lessen complexities. Close monitoring and early, forceful intervention is recommended. Physicians may work with other team of specialist and restorative professionals trained in cystic fibrosis to assess and treat patient's condition.(Mayo Clinic)

While therapies are possible that can enhance some manifestations of the disease, there is no remedy

There is no cure for BEB. Treatment aims to manage symptoms. No single treatment is right for all people with BEB. Work with your health care provider to find the best treatment for your you. Treatment options include:

There is no cure for the disease but there is a treatment for the symptoms. There are only 5 drugs that are currently available that the FDA has approved.

Genetic disorders come in various forms. Some can be caused by mutations of the genes or chromosomes while others can be caused by a process called nondisjunction. Nondisjunction occurs when chromosomes during meiosis do not separate correctly and the daughter cells receive too much or too little genetic information. Klinefelter's is caused by nondisjunction which results in an extra X chromosome being present in a male.

There is no cure for this condition, but treatment can help with symptoms. Treatment may include:

When we think of the ideal time to operate on this patient, two facts leap to attention: first, it might be unwise to proceed with surgery immediately as he has had a recent myocardial infarction, and second, that the antiplatelets need to be managed optimally to get the best outcomes possible- there is a fine line between the risk of stent thrombosis if they are stopped too early and excessive intra- and

There is currently no cure for this condition yet and treatment is generally based on the symptoms the individual has.

There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.

During inspection of the heart assessment observe abnormal finding. Inspect the jugular vein and the carotid artery. Note pallor or cyanotic skin color, temperature, turgor, texture, and clubbing of finger. Observe for swelling, edema and ulceration. Clubbing is a sign of chronic hypoxia caused by a lengthy cardiovascular or respiratory. Poor cardiac output and tissue perfusion is noted by cyanosis and pallor. For dark-skinned, inspect his mucous membranes for pallor. Decreases or absent of pulse with cool, pale, and shiny skin, and hair loss to the area, and the patient may have pain in the legs and feet may indicate arterial insufficiency. Ulcerations typically occur in the area around the toes, and the foot usually turns deep red when dependent

April of 1956 was when the cytogeneticists Joe Hin Tjio and Albert Levan at Lund University in Sweden discovered that the typical number of chromosomes in diploid human cells was 46-not 48 as had been believed for the previous thirty years. In the earlier years of the research, experimenting, and treatment testings, they discovered the cause of Jacob’s syndrome. Jacob’s syndrome is a rare, chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome rather than the typical male possession of one X and one Y chromosome meaning that individuals with this syndrome have one X and two Y chromosomes. With the showing of the atypical symptoms that are linked to this disorder, the seemingly affected males are tested,

For most genes on chromosome 11, both copies of the gene are expressed in cells. For some genes, however, only the copy inherited from a person's father (the paternal copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternal copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome (Smith et al.,