Physiology Flashcards

1
Q

Pathogenesis and clinical findings of Dysbetalipoproteinemia (type III)

A

Defective ApoE. ↑ Chylomicrons, VLDL. Premature atherosclerosis, tuberoeruptive and palmar xanthomas.

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2
Q

pathogenesis and clinical findings of familial hyperchylomicronemia

A

Defective Apo CII or Lipoprot Lipase
⬆️ Chylomicrons/ TG/ Cholesterol
Pancreatitis common, no ⬆️ Risk of atherosclerosis

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3
Q

Pathogenesis and clinical findings of Hypertriglyceridemia (type IV)

A

Hepatic overproductionof VLDL. ↑ TG and VLDL. Hypertrigliceridemia >1000mg/dl, acute pancreatitis, insulin resistance

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4
Q

Pathogenesis and clinical findings of Familial hypercholesterolemia

A

Defective LDL receptor or Apo B100.
⬆️ Total chilesterol/ LDL >300 or > 700 in homozygous
May be Myocardial infarction in Age of 20’s.
Tendon achiles xanthomas and corneal arcus.

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5
Q

Adverse effect of hypothyroidism on lipid regulation

A

↓ Expression of LDL receptors and ↓ expression of lipoprotein lipase

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6
Q

Clinical findings of Niemann-Pick disease

A

Deficient enzyem: sphingomyelinase. ↑ Sphingomyelin. CNS neurodegeneration, cherry-red spot on macula, 2° thrombocytopenia, foam cells, hepatosplenomegaly.

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7
Q

Clinical findings of homocystinuria

A

Ectopial lentis (down and in), intellectual disability, thromboembolic occlusion, osteoporosis, Marfanoid habitus.

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8
Q

Pathogenesis and treatment of homocystinuria

A

Cystathionine synthase deficiency. Tx: avoid methionine, supplement with cysteine and B6.

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9
Q

Clinical findings of Maple syrup urine disease

A

At first days of life: poor feeding, urine smells like burnt sugar, hypertonia, lethargy.

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10
Q

Disease that causes ↑ alfa ketoacids in the blood (isoleucine, leucine, valine)

A

Maple syrup urine disease. Must be supplemented with Thiamine

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11
Q

Main substances that leads to ↑ insulin in response of oral and IV glucose

A

Incretins, like GLP-1 and GIP

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12
Q

Clinical findings of Primary adrenal insufficiency

A

Preexisting history of autoimmune disease, hypovolemia (due to salt wasting), orthostasis, hypoglycemia, normo anemia and eosinophilia.

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13
Q

Lab findings at PAI

A
↓ Cortisol
↓ Glucose
↓ Na
↑ K
↑ urinary Na
↓ urinary K
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14
Q

Pathway on the ATP production during intense exercise

A

<10 sec: phosphocreatine shuttle
10-60 sec: anaerobic glycolysis
>60 sec: oxidative phosporylation

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15
Q

Sites with rich smooth endoplasmic reticulum

A

Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex and gonads

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16
Q

Loss of bone mechanism in Myeloma Multiple

A

Due to Interleukin-1 induced uncoupling of bone resorption and formation (↑ osteoclast activity without osteoblast restorative action)

17
Q

Hyperthyroidism effects on bone metabolism

A

↑ bone turnover with net bone loss

Stimulates osteoblast and osteoclast differentiation (driven by T3)

18
Q

Lab findings in Grave’s disease

A

⬇️Serum TSH

⬆️Serum tyroglobulin/ Radioiodine uptake

19
Q

Lab Findings in Subacute thyroditis

A

⬇️Serum TSH
⬆️⬆️⬆️ Serum tyroglobulin
⬇️Radioiodine uptake

20
Q

Laboratory findings at exogenous thyroid hormone

A

↓TSH, ↓ tyroglobulin, ↓ radioiodine uptake

↑ T3, ↑ T4

21
Q

Laboratory findings at central hyperthyroidism

A

↑ TSH, ↑ tyroglobulin, ↑ radioiodine uptake, ↑ T3, ↑ T4

22
Q

Associated antibodies in Graves disease

A

Tyrotropin receptor Ab (TRAb) that bind and activate TSH

23
Q

Cause of cataract formation in diabetic patients

A

Osmotic damage (sorbitol accumulation by insufficient amount/activity of aldose reductase)

24
Q

Osmotic damage in Galactosemia

A

Excess galactitiol production due to abscence of galactose-1-phosphate uridyltransferase

25
Q

Clinical course and manifestation of Subacute granulotmatous thyroiditis (de Quervain)

A

Self-limited disease often a following a flu-like illness

Hypethyroid → hypothyroid. Very tender thyroid

26
Q

Susbtance that activates Phenylethanolamine-N-methyltransferase in order to convert NE to Epinephrine

A

Cortisol

27
Q

Final product in the sorbitol pathway

A

Fructose by sorbitol dehydrogenase

28
Q

Clinical use of pulsatile GnRH

A

Infertility