Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
10 Cards in this Set
- Front
- Back
|
Set 01 Q: This disorder affects the enzyme lysyl hydroxylase, results in a defect in collagen synthesis
|
Ehlers Danlos Syndrome -heterogeneous group of disorders of collagen synthesis -marked by hyperextensible joints/skin -Autosomal resistive or dominant and one type of x-linked recessive -bleeding tendency, easy bruising, associated with Berry Aneurysms - lysyl hydroxylase is a procollagen peptidase (intracellular)
|
|
|
Set 01 Q: Cause by a mutation in FBN1 gene leading to the presence of mutant fibrillin protein in CT
|
Marfan Syndrome (autosomal dominant) - CV defects, mitral valve prolapse, cystic medial necrosis (aka myxomatous changes) leading to aortic imcompetence and dissecting aortic aneurysms. - tall long extremities, pectus excavatum, long tapering fingers, ocular lends subluxation - displays incomplete penetrance
|
|
|
Set 01 Q: A group of disorders involving alpha1 and alpha2 chains of collagen (Type I) usually inherited as an autosomal dominant trait
|
osteogenesis imperfecta - younger patients present with multiple childhood fractures (suspect child abuse) and distinctive blue sclera -abnormal collagen 1 (bones, tendons, skin) - type II is fatal in utero
|
|
|
Set 01 Q: Autosomal dominant condition is most often a result of mutations in B-myosin heavy chain gene, important in generating contractions within the cardiac myocytes
|
Familial hypertrophic cardiomyopathy - results in a disarray of the contraction apparatus within cardiac muscle cells, with the development of a thickened muscular wall; it can lead to sudden death due to arrhythmias in athletes - blocks LV ejection with mitral valves and ventricular septum
|
|
|
Set 01 Q: Most cases are inherited as x-linked dominant mutations in the alpha5 chain of collagen type IV which is expressed in the affected tissues
|
Alport syndrome - characterized by nephritis, nerve deafness, and cataracts
|
|
|
Set 01 Q: This disorder results from a frame shift mutation leading to the complete absence of a cytoskeletal protein important in maintaining the shape of the contracting myocyte
|
Duchenne muscular dystrophe - debilitating disorder leads to clumsiness, followed by weakness of the girdle muscles, confinement to a wheelchair occurs by the teens and death due to respiratory failure by the early 20s - x-linked
|
|
|
Set 01 Q: This disorder results from a quantitative deficiency of the cytoskeletal protein dystrophin
|
Becker muscular dystrophy - much less severe than Duchenne, with a later onset and nearly normal life span
|
|
|
Set 01 Q: Deficiency of the cytoskeletal protein spectrin, resulting in cells that are less deformable and more vulnerable to destruction in the spleen
|
Hereditary Spherocytosis - this autosomal dominant disorder is the most common inherited cause of hemolytic anemia in whites and results in spherical RBCs
|
|
|
Set 01 Q: This autosomal recessive condition results from a defect in microtubule polymerization, with defects in neutrophil chemotaxis and phagolysosome formation
|
Chediak Higashi Syndrome - defects in the formation of function phagolysosomes from the union of lysosomes with phagosomes (containing opsonized pyogenic bacteria) results in recurrent infections by such organisms - cells can't eat because of impaired phagocytosis - recurrent bacterial and fungal infections - different from SCID that has recurrent bacterial, fungal AND viral infections
|
|
|
Set 01 Q: This family of transcription factors contains the supersecondary structural helix-turn-helix motif and is important in patern formation during embryonic development
|
Homeobox proteins - known as Hox genes, these transcription factors mediate DNA transcription by binding to DNA via helix-turn-helix motifs. Disruption of such interactions during development by synthetic retinoids results in congenital malformations
|
