Zellweger Syndrome Research Paper

Currently, there is no cure or medication that has been proven to modify or slow the course of the disease [5,6]. SCA3 is multifactorial and treatment is individualized; Treatment is determined by the symptoms that are presented from case-to-case. The primary goal of the symptomatic treatment is to improve the quality of lives of these individuals, as there are no curative options [6]. Medications are accepted and widely used to reduce symptoms of certain underlying conditions such as depression, fatigue, and pain. Pain itself plays a large role in the treatment of this disease. Nearly all patients with SCA3 report pain and fatigue associated their other symptoms [4]. SCA3 is treated using a team approach with physical therapy, occupational

A dysfunction of an enzyme in the peroxisome leads to the accumulation of very long-chain fatty acids (VLCFA) in several areas (several areas of what?) including the central nervous tissue(CNS). The accumulation of VLCFA is toxic leading to the death of neuroglial cells like the oligodendrocytes and astrocytes. Astrocytes in normal conditions regulate the composition of the blood-barrier in the central nervous system; The olygodendorocytes form the myelin sheath that covers the axons and facilitate the effective propagation of action terminals from the neuron to the target cells (Amerman 390). This disorder (what disorder) is caused by a mutation in the ABCD1 gene of the X-chromosome, it causes the demyelination of the neurons in the CNS inhibiting the integration of the information from sensory stimuli and the proper response to them, causing eventually death. X-linked disorders are present are a wide variety of phenotypes, CCALD is the most common and presents only on boys between the age of 4 and 12. CCALD is a rapidly progressive disease, its deteriorates the patient health in a matter of years, and due to its complexity, its commonly misdiagnosed (Engelen).

Zollinger-Ellison syndrome, is known as the gastrinoma syndrome caused by gastrin-secreting tumors of the pancreas, which stimulate maximum acid secretions and lead to ulcerations. ZES is connected with diarrhea, malabsorption, gastric reflux, severe ulcerations and ulcerations in the duodenum and the proximal jejunum. There are a few types of ZES that exist in different forms, including benign, sporadic, metastatic, and part of multiple endocrine neoplasia type 1 (MEN 1). Most gastrinomas are sporadic and sporadic tumors are a cancer that occurs in people who do not have a family history of that cancer. Sporadic gastrinomas are located at the gastrinoma triangle, which is located in the junction between the cystic and bile duct, portions of the duodenum, and the pancreas. While solitary tumors can

According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface of the brain. Studies have shown that this syndrome is not passed from family history, but the only remedy we can do is to suppress it (Sturge-Weber.org).

As an early childhood educator young children learn with all their senses.However, the implication for children with Lowe syndrome or visual impairment learn from all their other senses. In our classroom we would prepare sensory activities such as the sticky fall tree where the children place fabric leaves on contact paper. This activity provides independent and it allows the outdoors to come to them in a controlled environment. In addition, it provides the child cognitive and fine motor skills. Parents can make feel box which is made from old kleenex boxes filled with all kinds or textures. In our classroom we have sensory tables with sand and water.

Pain is often an unpleasant part of being human. The experience is different for every individual person and, the result of the pain does not always depend on the stimulus but can be effected by the contest of any given situation. Neuropathic and nociceptive pain serve no observable purpose and can often be an immense burden on the lives of the people that suffer from chronic and neuropathic pain. Their physical, mental and emotional health can be seriously impacted as well as their social life, and even their career or occupation can be negatively impacted by it. Analgesic treatments that are currently available are extremely limiting, they suffer from low effectiveness, extreme financial costs and potentially harmful toxicity factors. 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

(Mueller, Paul. 7). Non-Steroidal Anti-inflammatory Drugs (NSAIDS) demonstrate effectiveness when used in reducing swelling and pain associated with LSS (Fishman 1142). Opioids, on the other hand, are used to relieve pains associated with LSS and are usually only reserved for cases that do not respond to non-opioid analgesics. Other drugs including gabapentin have been used to combat neuropathic pain. Pregabalin is commonly used in the management of burning pain emanating from nerve root irritation (Frontera, Silver, and Rizzo

improvements have been made in its treatment compared to historical therapies. Patients exhibit similar but varying

Clinical recommendations regarding pain treatment are available in the “Attitudes to pain Resources” section of this app.

upslanting eyes, high forehead, and ‘epicanthal,’ or skin folds along the person’s nasal borders of the space between the upper and lower eyelids of their eyes.

There are multiple pain management options to use for patients experiencing acute and/or chronic pain including oral, intramuscular, continuous

In the U.S. alone, 1 in 200,000 individuals is affected by Werner’s syndrome. Werner’s syndrome is often known as “adult progeria” as it causes a sudden and rapidly aged appearance in affected individuals, typically occurring in their twenties. The affected individuals may start to have graying and loss of hair; a hoarse voice; and thin,hardened skin. In addition to this, early in life, the affected individuals may develop disorders that are associated with aging, such as skin ulcers, diminished fertility, thinning of bones, atherosclerosis, and cloudy cataracts in both eyes. They are also more susceptible to cancers, cardiovascular diseases, and diabetes. Because of these characteristics and effects, people with Werner's syndrome tend to live

Peutz-Jeghers Syndrome was described by a Dutch physician name Jan Peutz in 1921. Jan Peutz noted signs in a Dutch family appearing with intestinal polyps and also had noticed mucocutaneous macules. John McHutchinson, a man who reported signs back in 1896, had a case involving a pair of twins with an end result leaving one twin died. An American physician, Harold Jeghers, had published a book giving definite descriptions of this syndrome. Shortly after the book was published, it was introduced as Peutz-Jeghers Syndrome by Andre J. Bruwer. Peutz-Jeghers Syndrome is a noncancerous developmental growth that is should be detected as early as possible. Peutz-Jeghers Syndrome can also be called Hamartomatous Polyps. The polyps can be found in the gastrointestinal tract (GI tract) and also in buccal mucosa. Children that has been

Peroxisomes are created by taking in proteins from the cytoplasm, and then replicate through fission. These proteins are also called peroxins and are labelled with “PEX.” They do this since they do not have their own set of DNA, and must be completed already containing all their proteins needed to function. During this process of peroxisome assembly gene mutation errors might occur, like frameshift mutation(Gould & Valle, 2000). One of the most common disorders is Zellweger syndrome, which is caused by a missense mutation in PEX1,6, and 12 (Berendse, Ebberink, IJlst, Wanders, & Waterham, 2013). The syndrome cause a buildup of fatty acids which the peroxisomes normally break down. The excess fatty acids can affect organs causing enlarged livers, and even create cyst in the liver. Peroxisomal biogenesis orders are deadly disorders that greatly lower life expectancy and have no cure or treatment