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Example research essay topic: Autosomal Recessive Autosomal Dominant - 1,092 words

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Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS.

These two types make up 90 % of all EDS cases. I will discuss the general symptoms of these two types along with pathology, then diagnostic factors, and the different treatments for this disorder (Smith). EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyper extensible skin and joints (Dia. 1 - 2, pg. 6), tendency to bruise easily (Dia. 3, pg. 6), reduced wound healing capability, pseudo tumors, and ocular defects. Differences within the six types may reflect inter / intra familial variability or genetic heterogeneity. Each type of EDS is classified symptoms and signs that are resulted (Clarke, D. , Skrocki-Czerpak, K. , Neumann-Potash, L).

There are approximately six types of EDS that have been distinguished but other types exist that are very uncommon. Classical, Hypermobile, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. Classical and Hypermobile make up over 90 % of all reported cases of EDS. With the Classical type of EDS a person would have hyper extensible (stretchy) skin with widened atrophic scars and joint hyper mobility. The skin is smooth and velvety with tissue fragility and easy brus ability.

Also evident are molluscoid pseudo tumors (fleshy lesions associated with scars) frequently found over pressure points (e. g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hype mobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonic and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D. , Skrocki-Czerpak, K. , Neumann-Potash, L. ).

In the Hypermobile type of EDS the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hyper mobility affects large (elbows, knees) and small (fingers and toes) joints are evident. Skin is hyper extensible, smooth / velvety , and bruising occurs easily as well. Reoccurring joint dislocations are common, and joints such as shoulder, patella, and temporomandibular joint dislocate frequently. Chronic joint and limb pain is a common amongst individuals with Hypermobile type EDS. Skeletal X-ray are normal, however the anatomical distribution is wide and tender points can sometimes be elicited.

To this day, researchers have not identified any biochemical collagen finding. The Hypermobile type of EDS is inherited in an autosomal dominant manner. The other four types of EDS that exist are less common, but have the same general symptoms as Classical and Hypermobile types (e. g.

skin hyper extensible and the joint hyper mobility). However, these types EDS have symptoms that occur in other regions of the body, including the general symptoms. Different protein and enzyme (collagen) disorder cause these other types of EDS. These other types are inherited in an autosomal dominant manner and autosomal recessive manner.

There are other types which are very rare, and the molecular basis of which remains unknown, however they do know that these rarities are X-linked (Clarke, D. , Skrocki-Czerpak, K. , Neumann-Potash, L). The diagnosis of EDS is made upon clinical ground first, skin hyper elasticity, easy bruising, dystrophic scarring, and joint hyper mobility are the cardinal symptoms, which may be present in different combinations and with variable severity. Diagnosis is often impossible to make in infants and small children as abnormal joints hyper mobility and skin elasticity are difficult to recognize, however infants may present as floppy infants. In children, joint hyper mobility and hypotonic may cause delayed motor dev. , problems with walking, and mild motor disturbances and often thought clumsiness. Other characteristics can be hernias, gastrointestinal diverticula, mitral valve prolapse, rectal prolapse, and easy inversion of the upper eyelid. There are laboratory test, which may confirm, or exclude the diagnosis Classical, Vascular, Arthrochalasia, Dermatosparaxis, and Kyphoscoliosis types of EDS.

For Hypermobility type EDS there is no biochemical marker and diagnosis is made on the basis of symptoms or family history. Electron microscopic examination of a biopsy can show changes in the structure of collagen fibers. It is not specific, but can used as a diagnostic tool for EDS in the absence of a biological marker. In some patients an unequivocal classification cannot be made. Coagulation tests are normal (Clarke, D. , Skrocki-Czerpak, K. , Neumann-Potash, L). The prognosis of EDS depends on the type.

Life expectancy can be shortened with the Vascular type due to the rupture of organs and blood vessel, however life expectancy is normal with all other types of EDS. Patients with EDS can be born prematurely because of premature rupture of fetal membrane in some cases (Mckissick: Smith). There is treatment/ management for EDS that could be recommended by a physician, and EDS should be approached with care. A physician may prescribe braces to stabilize problems joints, but surgical repair of joints is necessary at some time.

Physical and occupational therapist are used as well to help strengthen muscles and to teach people how to properly use and preserve their joints. Ascorbic acid (vitamin-c) is used by some patients to help with the healing of bruises Excessive sun exposure should be avoided without the daily use of sunscreen. Ehlers -Danlos syndrome affects all races and ethnic groups and if you have one type of EDS you cannot develop another type. However, individuals with the same type of EDS may have slightly different manifestations because each of us is a unique individual (Clarke, D. , Skrocki-Czerpak, K. , Neumann-Potash, L).

Diagram- 1 Diagram- 2 Diagram- 3 National Organization for Rare Diseases. Ed. 1986. The National Organization for Rare Diseases, Inc. 2 Oct. 2000 web win / nord . exe? proc = Get Document&# 038; recipe = 0 &# 038; rectum = 240 . Clarke, D. , Skrocki-Czerpak, K. , Neumann-Potash, L.

Ehlers-Danlos Syndrome: The New Nosology. Loose Connections (August 1998). web Mckissick, V. Heritable Disorders of Connective Tissue.

St. Louis, Mosby, 1972. Ehlers-Danlos Syndrome. 16 June. 1998 web Smith, D. Recognizable Patterns of Human Malformation. Saunders, 1982, p. 358. Ehlers-Danlos Syndrome. 16 June. 1998 web Bibliography An overview of Ehlers-Danlos Syndrome. 3 Pages


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