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11 Cards in this Set
- Front
- Back
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What is Hutchinson-Gilford syndrome?
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It is also known as progeria, a disease characterized by symptoms of premature aging, which include baldness, stiffness of joints, cardio problems, wrinkled skin and dwarfism.
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When do symptoms begin?
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Around the age of 6-12 months.
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What is Werners syndrome?
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It is a similar disease that first causes symptoms in affected individuals in their late teens. It is noticed when an adolescent fails to have a normal growth spurt.
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What is the cause of this disease?
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It is caused by a mutation in the WS gene, which results in the productionof a defective DNA helicase. The cause of Progeria is unknown.
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What is DiGeorge's syndrome?
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This results from abnormal development of pharyngeal pouches 3 and 4 due to a deletion involving chromosome 22.
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What are signs of Digeorge's syndrome?
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Abnormal face, (hypertelorism with low set ears, abnormal thymus with decreased cell mediated immunity, and hypocalcemia due to the absence of the parathyroid glands.
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What is leukocyte adhesion deficiency type 1?
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It is an autosomal recessive disorder that results from a deficiency of the beta chain of the beta 2 integrins. This beta 2 chain is also called CD18.
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Regarding leukocyte adhesion, symptoms caused by decreased functioning of these integrins include recurrent severe bacterial infections, and decreased wound healing. TRUE/FALSE
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TRUE.
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Will neutrophils be found at the site of infection?
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No. They cannot bind to endothelial cells and migrate into the interstitial tissues, they are, not normally found at the infection site. Instead, neutrophils will be found in increased numbers in the peripheral blood, even when infection is not present.
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Are there any other conditions which demonstrate themselves with low neutrophil counts?
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Yes, congenital neutropaenia, such as cyclic neutropaenia and Shwachman-Diamond syndrome. Both are associated with recurrent severe bacterial infections.
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Regarding Shwachman- Diamond syndrome, is it characterized by any additional signs or symptoms?
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Yes. Insufficiency of the exocrine pancreas, skeletal abnormalities, and dysfunction of the bone marrow.
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