Conditions Flashcards

1
Q

what is murasmus and kwashiorkor

A

murasmus - calorie and protein def

kwashiorkor - protein deficiency

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2
Q

murasmus symptoms

A

muscle and fat wasting, no oedema, dehydration, anemia

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3
Q

kwashiorkor symptoms

A

oedema, muslce wasting, hepatomegaly

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4
Q

clinical signs of G6PDH deficiency

A

cataracts, heinz body and anemia due to RBC breakdown, oxidative damage due to no NADPH

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5
Q

symptoms of lactic acidosis

A

deep breathing, abdo pain, nausea

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6
Q

how does cyanide poisoning kill

A

cyanide binds to ETC and prevents oxidative phosphorylation

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7
Q

symptoms of glycogen storage disease, too much and too little

A

too much - tissue damage, liver and muscle

too little - poor exercise tolerance, hypoglycemia

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8
Q

hyperglycemia test outcome for random and fasting blood glucose

A

random - 11.1mM+

fasting - 7mM+

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9
Q

symptoms of hypoglycemia

A

slurred speech, dizziness, headache, reduced coord

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10
Q

hwo diagnose phenylketonuria and homocysteinuria

A

phenylkteones in urine or homocystein in urine

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11
Q

how treat homocysteinuria

A

low methionine diet, vit b6 and folate

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12
Q

symptoms of DKA

A

hypervent, nausea, vomiting, dehydration, abdo pain

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13
Q

cushings diagnosis and treatment

A

diagnosis - dexamethasone suppression test, plasma conc of ACTH and cortisol
treat - remove tumour, radiotherapy

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14
Q

addisons symptoms, diagnosis and treatment

A

symptoms - weakness, dehydration, increased pigmentation, hypotension, hypoglycaemia
diagnosis - 24 hr urinary cortisol excretion, synacthen test
treat - glucocoritcoids

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15
Q

pattern of inheritance, diagnosis, treatment of cystic fibrosis

A

pattern - autosomal recessive
diagnosis - genetic screening, sweat test (Na conc in sweat)
treatment - antibiotics, chest physiotherapy

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16
Q

downs symptoms and diagnosis

A

hypothyroidism, heart defects, infertility

diagnosis - amniocentesis

17
Q

give the karyotype of edwards, kleinfeilters, turner

A

edwards - 47,xx
kleinfelters - 47,xxy
turner - 45,x

18
Q

symptoms of kleinfelters and turner

A

kleinefelters - reduced test, gyno, infertility

turners - short, webbed neck, infertile

19
Q

marfans defect in what gene, symptoms and test

A

fibrillin gene
symptoms - tall, heart defects, stretchy skin
test - arm length versus height