Usher Syndrome: A Genetic Disease

Humans are often fascinated and petrified by the supernatural. This is because the supernatural has the ability to hurt us humans in ways we cannot avoid. As a result, people start thinking how all of this is possible. Supernatural beings are often very peculiar, so, not only are their actions frightful, but so too are their appearances. Many horror writers take advantage of the supernatural, as Edgar Allan Poe did. In Poe’s short story “The Fall of the House of Usher,” the characters have a rare illness that has the same symptoms as a vampire would. Poe does not state if the characters are vampires, so there are many debates as to whether they have an illness or if they are vampires. It is evident that the characters are actually vampires based upon Roderick’s symptoms and looks.

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene (Nookala et al., 2012; Nickerson et al., 2008; Menko et al., 2012; Hartman et a., 2009). Patients with BHD initially develop fibrofolliculomas, typically as benign facial tumors, and lung cysts; whereby, increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax (Nookala et a., 2012; Menko et al., 2012; Hartman et al., 2009). The majority of the BHD patient population contain germline mutations in FLCN exon 11, which is a hotspot for disease causing mutations. BHD research predicts mutations in FLCN results in a truncated folliculin protein lacking its c-terminal end, thus, suggestion the

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.

About 10% of all miscarriages have this disease to blame. Turner syndrome happens when a female’s X chromosome has both X’s in one cell, but not others (called Mosaic Turner Syndrome), or entirely missing (called Monosomy). It can also happen when instead of two X chromosomes, there’s one X and a small part of a Y chromosome. The girl will still develop as a female, however. All of these forms of Turner Syndrome can result in physical problems like heart or kidney defects, a shorter than normal stature, a failure to start puberty, and infertility, and mental problems like learning disabilities and social adjustment problems, to name just a few symptoms.

Genetic testing can be used to check blood for the genetic abnormalities known to cause PWS.

Tests that may be performed to rule out other conditions include magnetic resonance imaging (MRI) which can show potential damage to the pons as well as magnetic resonance angiography, which can show whether or not there are blood clots in the arteries of the brainstem. In addition, these tests can be used to determine if there is damage in other parts of the brain as well. Other tests that can be used to diagnose this disease are: electroencephalogram (EEG), which measures the electrical activity of the brain revealing the brain activity and sleep-wake cycles of patients and evoked potentials, tests that measure the EEG signal in response to stimulation usually pain, auditory or visual this gives physicians a look at the responses of the brainstem as well as the responses of the brain. Additionally, electromyography, a test which records electrical activity in the voluntary muscles and nerve conduction, a test which determines the ability of nerves to relay impulses to the muscles are both tests which are used in the process of diagnosing this

The prevalence of hearing loss has doubled over the past 30 years in the United States and continues to steadily incline as time goes on. Hearing loss itself encompasses a wide variety of disorders, effects many diverse populations, and is caused due to a multitude of different sources (“The Prevalence”). Its onset is also extremely variant and could happen either congenitally or at any point later on in a person’s life. One of these such congenital disorders is Waardenburg syndrome. Waardenburg syndrome is a genetic disorder characteristized by four different types of specific disorders that are further differentiated by their physical attributes and genetic causes. It’s estimated that about 1 in 40000 people are diagnosed with this disorder

• Tests to rule out other physical or mental causes of mutism, such as an injury to the brain.

Introduction: Hunter syndrome is a rare, X-linked disease caused by the deficiency of iduronate 2-sulfatase enzyme- a lysosomal enzyme responsible for a step in the degradation of glycosaminoglycans (GAGs). The disease is characterized by the accumulation of GAGs in all body tissues leading to progressive neurological deterioration, skeletal deformities, limited joints movements, cardiomyopathy, airway obstruction and hepatosplenomegaly. An already available treatment of Hunter syndrome is enzyme replacement therapy by idursulfase which was approved by the United States food and drug administration (US FDA) in 2006 to be taken by slow intravenous (IV) infusion and with a dose of 0.5 mg/kg/week.

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

OBJECTIVES: This paper will go over what Dubowitz syndrome is, the prevalence of the syndrome and who it affects. To describe the signs and symptoms, ideology and a treatment plan for a consumer with Dubowitz syndrome. It will also go over the consumer’s medical history at Central Valley Treatment Center (CVTC) and the steps taken to help the consumer with his everyday activities. An individual care plan which will include DSM-IV diagnosis, assessment, outcomes, short/long term, interventions with rationales, evaluations, referrals, medications and documentation that will include a SOPIE note, that will best help this consumer.

Usher syndrome, is also known as Hallgren syndrome it is one of the most common disorders that effect your hearing and vision. Hearing loss and a condition called retinitis which is an eye disorder are the two major symptoms of this syndrome. RP means a chronic hereditary eye disease characterized by black pigmentation and gradual degeneration of the retina. Night blindness and loss of peripheral vision are caused by the degeneration of the retina due to RP. A mutation on the USH2A gene is known to cause 10% to 15% of a syndromic form of RP.