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Write a report defining and explaining the following terms. Give specific exampl

ID: 281310 • Letter: W

Question

Write a report defining and explaining the following terms. Give specific examples for each concept. Paragraphs must define and explain concept, and must have a specific example for each. Explain your examples in detail. Make sure your examples relate to the concept! At least one (1) paragraph for each concept. Necrosis (define and example) Cachexia (define and example) Ethlers-Danlos syndrome (define and examples) Osteopenia (define and example) Achondroplasia (define and example) TMJ syndrome (define and example) Spina bifida (define and examples) Parkinson's disease (define and example 8 Paragraphs Total (COVER PAGE NEEDED)

Explanation / Answer

Necrosis: Necrosis is defined as the death of significant number of cells within or attached to the living body. It is caused due to loss of blood supply, living or non living agents.

Examples for condition that can lead to necrosis of tissues include Arteriosclerosis in which thickening of artery walls occurs which diminishes blood supply to cells leading to hypoxia and necrosis. Atherosclerosis in which which heart walls thicken and expand due to deposition of cholesterol plaque which may also lead to cardiac ishemia and necrosis. Other such examples are thrombosis, embolism etc which can also cause necrosis

Cachexia: Cachexia is a wasting syndrome which is characeterized by altered metabolism of carbohydrates, proteins and lipids. It is leads to loss of lean body mass and fat, disproportionate muscle wasting, decreased albumin, increased C reactive protein.

Examples of diseases which can lead to cachexia are Rheumatoid arthritis, end stage renal disease, congestive heart failure, HIV/ AIDS, Chronic obstructive pulmonary disease, chronic liver disease etc.

Ethlers-Danlos syndrome: It is a genetic disorder in which the gene (COL3A1) that controls the production of connective tissue as well as gene mutations occurs that interfere with collagen. Signs and symptoms include fragile stretchy skin, easy bruising, overly flexible joints and fatty lumps at pressure points.

Examples include: Hyper-motility Ethlers Danlos syndrome- The defect is not clearly understood but the mode of inheritance is dominant

Classic: which is a dominant genetic disorder due to Type V collagen defect in 60 % of the cases,  

Arthrochalasia: It is due to defect in type I collagen and also dominant

Dermatosporaxis: It is due to ADAMTS2 gene defect and the inheritance type is recessive

Kyphoscoliosis: It is due to lysyl hydroxylase (PLOD1 gene defect) and recessively inherited

Vascular: It is caused due to type III collagen defect and inherited by dominant gene

Osteopenia: Osteopenia is characterized by low bone mass and reduction in bone peak density below than the normal levels but not low enough to be classified as osteoporosis. Hence it is termed as poverty in bone. The T score in a patient with osteopenia is between -1 and -2.5

Examples include Calcium and vitamin D deficiency may result in osteopenia

Achondroplasia: Achondroplasia is defined as the impaired cartilage proliferation in the growth plate. It is an autosomal dominant genetic disorder caused by the mutation in the fibroblast growth factors receptor 3 (FGFR3). The overexpression results in impairment of cartilage proliferation.

Examples: Achondroplasia is seen in dwarfism and attributed as the common cause of dwarfism

TMJ syndrome: Temporomandibular joint (TMJ) syndrome or dysfunction is a manifestation of an abnormality of the joint where the lower jaw hinges to the upper jaw. There is tenderness and pain of the TMJ and surrounding areas, muscle spasms, limitation of the movement and clicking or grating sounds during chewing or speaking.

Examples of TMJ syndrome occurences include Arthritis, injury to the TM joint, a disintegrative wearing down of the joint, rheumatic fever malocclusion, anxiety, emotional problems and stress.

Spina bifida: Spina bifida is a developmental abnormality due to insufficient closure of the neural tube (usually in the low thoracid, lumbar or sacral regions). It usually occurs by the 28th day of gestation. It affects the Central Nervous system, musculoskeletal system, urinary system.

Examples of conditions which can cause Spina bifida are Genetic predisposition, environmental influences, low levels of maternal folic acid, maternal hyperthermia, certain drugs.

Examples of Spina bifida are Spina bifida occulta, Spina bifida meningocele, Spina bifida myelomeningocele etc

Parkinson's disease: Parkinson's disease is a progressive degenerative disorder of the central nervous system which affects the patient speech and motor skills. It is a part of movement disorders which is age specific (and occurs mostly in men) and the mean onset age is 65 years. It occurs due to deneration of neuromelanin containing neurons in the pars compacta of the substantia nigra which results in reduced levels of dopamine within the brain.

Examples of conditions where Parkinsonism disease can be affected are drugs (Antipsychotics or drugs that deplete dopamine), trauma, underlying medical disorders.

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