Von Recklinghausen 's Disease : An Autosomal Dominant Disorder

Recurrent epistaxis is one of the diagnostic criteria for Hereditary Hemorrhagic Telangiectasia (HHT). HHT is an autosomal-dominant disorder that is also depicted by skin and mucosal telangiectasias. Feared complications of HHT include rupture of pulmonary or cerebral arteriovenous malformations (AVM). The etiology of HHT is most often due to genetic mutations that impair normal angiogenesis. We report a case of suspected HHT in a 49-year-old female, with a first-degree relative with HHT, and a history of recurrent epistaxis status post coiling of left and right internal maxillary arteries. Of special note, her initial hemoglobin level was 1.7, but she was alert and walking at triage. Her presentation was consistent with multiple prior admissions in the past three years. Patients with suspected hereditary telangiectasia should receive a comprehensive work up, including serum studies, imaging, and possibly genetic testing. Treatment should focus on both acute management of the bleed and prevention of future complications.

These include motor neuron disease, corticobasal syndrome, progressive supranuclear palsy and FTDP-17 (FTD with parkinsonism linked to chromosome 17).

Wernicke encephalopathy, a disease that alters brain structure, and Korsakoff syndrome, a memory loss disease, are two conditions that frequently afflict victims together. The sickness occurs in individual who lack vitamin B1 most often due to alcoholism but also because of malnourishment. The condition can also occur in individuals with illnesses or after weight reduction surgery.

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

The main symptom of these disorders is tumors that form on the ends of nerves throughout the body. NF 1 is most commonly

What parts of the body does it affect? How common is it? Are there multiple forms/causes for developing the condition? How long can an individual survive?

Schindler disease type III is intermediate in severity between types I and II. Affected individuals

The chromosome that fibromyalgia affects is chromosome number one. Number one chromosome has 1,200 to 1,300 genes that provide instructions for making proteins. These proteins perform a

My genetic disorders name is Alzhemiers Disease. It causes the person to lose memory.The people over 60 can have this disease. It cause the person also to have confusion. Other names for this disease is AD, Alzhemier dementia,and DAT. The things that can cause the disorder is. Is having brain cell death, the tissue will start having fewer nerve cells,and the brain size will start to shrink. The prenatal tests show that there will be a high risk for mutations. It is unlikely performed unless of the family members are diagnosed. They treat it by doing blood tests and Urine tests. They also rule out possible causes. It can be prevented by salmon,tuna,and trout. The medical assistance children need Safety at home, Benefits of exercise,and Eating

For example, Wiskott-Aldrich and Beckwith-Wiedemann syndrome are known to alter the immune system. The immune system is a complex system that functions to protect our bodies from infection and disease. The bone marrow produces cells that later mature and function as part of the immune system. One theory suggests that the cells in the bone marrow, the stem cells, become damaged or defective, so when they reproduce to make more cells, they make abnormal cells or cancer cells. The cause of the defect in the stem cells could be related to an inherited genetic defect or exposure to a virus or toxin. Exposures to certain viruses Epstein-Barr virus and HIV, the virus that causes AIDS, have been linked to an increased risk of developing certain childhood

Thiamine is an essential vitamin needed by all cells in the body. When the body lacks thiamine for an extended period of time, many problems arise, mainly in the brain and heart. Alcoholism and malnourishment are two of the leading causes of thiamine deficiency. Although fairly rare, Wernicke-Korsakoff syndrome (WKS) can be a severe consequence of thiamine shortage. WKS is a neurodegenerative disease that affects the brain and disrupts the neuronal signaling. Not only does it make daily life very difficult, it can become life-threatening and cause permanent damage. The lack of thiamine interrupts many biochemical pathways in the body, including the pentose phosphate pathway, glycolysis, and the Citric Acid cycle. Disrupting these pathways causes WKS to present along with multiple other complications.

Albert Einstein once said, “Anyone who has never made a mistake has never tried anything new.” This was reflected in my capstone project. I did something new, I made mistakes and I learned a lot. I learned how to be organized, write a paper using first-person sources, how to manage my time wisely, and about my chosen topic, Von Willebrand Disease. I also ran into multiple difficulties along the way. Despite all the struggles, I learned many things about writing, Von Willebrand Disease, and how to overcome struggles without completely breaking down.

Alexander Disease is a rare defect involving the nervous system. It is part of a classification of uncommon genetic disorders called leukodystrophies that affect the central nervous system by interfering with the growth and nourishment of the myelin sheath. Myelin sheath shields nerve fibers and promotes rapid transmission of nerve impulses. If myelin is not properly nurtured, the transmission of nerve impulses can become disrupted causing serious impairment of nervous system functions. Although a majority of cases with early onset exhibit a distinct deficiency in the formation of myelin, white matter defects are sometimes not detected in cases accompanying later onset. Contrary to its classification, the universal characteristic among all Alexander disease cases is actually the presence of atypical protein compounds called Rosenthal fibers. They present themselves in a particular type of glial cell found in the central nervous system known as an astrocyte. Glial cells provide nutrients for neurons, absorb dead neurons, and physically reinforce their structure. Rosenthal fibers are composed of substantial quantities of glial fibrillary acidic proteins (GFAP). GFAP is known to sustain the mechanical strength of astrocytes, but in this case it is a defect in GFAP that has been found to interfere with the function of astrocytes and ultimately causes the leukodystrophy. When tested on mice, the mutation of GFAP caused a new, toxic effect, rather

The Li- Fraumeni syndrome (LFS) is a rare disease that increases the risk of developing several types of cancer, mainly in kids, and young adults. Major causes of the syndrome are changes in the tumor suppressor gene. What that means is a protein that stops the cells from growing and dividing too rapidly or in an uncontrolled way. There are a lot of symptoms for this disease but just to name a few there are acute leukemia, neoplasm of the lungs, breast, colon, and the adrenal cortex. 90% of people get leukemia, breast, colon, and adrenal cortex cancer.

Wernicke-Korsakoff syndrome is a set of neurocognitive manifestations encompassing Wernicke’s encephalopathy and Korsakoff’s syndrome. Wernicke is an acute neuropsychiatric disease provoked by thiamine deficiency. Korsakoff is a chronic consequence of this deficit that entails prominent damage on memory. Concomitance of ataxia, ophthalmoparesis and changes in mental status occur in 16% of cases. Symptoms appear after the third gestational month, after weeks of persistent vomiting. We report the case of a multiparous woman, aged 28 years, 15 weeks of pregnancy, who had hyperemesis gravidarum from the beginning of gestation, treated in emergency units with symptomatic drugs, admitted to the ICU due to numbness, nystagmus and acute respiratory