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| Question | Answer |
|---|---|
| presence of a combo of symptoms that commonly occur together and are related to a single cause | syndrome |
| neuro condition where an infants head is significantly smaller than similar children | microcephaly |
| a lack or shortage is a | deficiency |
| a DNA molecule with part of all of the genetic material (46) | chromosome |
| pairs of chromosomes, that look the same in both sexes (22) | autosomes |
| sex chromosomes (23rd chromosome pair) | allosomes |
| beriberi is a deficinecy of _ | thiamine (B1) |
| B1 is found in | beef, pork.... |
| beriberi is caused by | poor diet or alchoholism |
| where is beriberi found | China |
| pellagra is a chronic lack of | niacin B3 |
| scurvy is lack of | Vitamin C |
| what is the sign of scurvy | pelkan spur, wimbergers sign |
| rickets is a deficiency of | vitamin D |
| vitamin A play a major role in | phototransduction |
| major cause of childhood blindness | vitamin A deficiency |
| vitamin necessary for blood clotting | vitamin K |
| medication that can cause vitamin k deficiency | warfarin (blood thinner) |
| is a condition of abnormally high storage levels of vitamins; can lead to toxic symptoms | hypervitaminosis |
| what are the fat soluble vitamins | DEKA |
| an increase in vitamin D can lead to | hypercalacemia in organs |
| kwashiorkor is a severe _ deficiency | protein-calorie |
| excess of adipose tissue that develops when caloric intake exceed calories burned | obesity |
| a connective tissue disorder; mostly likely an immune complex disease | systemic lupy erythematosus |
| SLE can affect | the joints, skin kidneys, blood cells, ♥, brain, and lungs |
| occurs when the pigment producing cells that give color to the skin become cancerous | melanoma |
| t/f: melanoma is extremely malignant | true |
| _ _ is a group of chronic inherited conditions where fat replaces muscle | muscular dystrophy |
| most muscular dystrophy pts die from | aspiration pneumonia |
| usually an individual has _ chromosomes _ pairs | 46; 23 pairs |
| down syndrome is aka | trisomy 21 |
| most common trisomy disorder caned by an extra autosomal chromosome | down syndrome |
| pelvis appearance on down syndrome pts | mickey mouse pelvis |
| a male that has two x chromosomes has | klinefelters syndroms |
| resutls from a missing or incomplete chromosome | turners syndrome |
| female that has 1 X chromosome has | turners |
| what is the image sign to look for with turners syndrome | metacarpal sign (shortened 4th) |
| inherited disorder of connective tissue with ocular, skeletal, and cardiovascular manifestations | marfans syndrome |
| marfans sydnrome pts have a higher risk of | aortic root aneurysm and dissection |
| what type of medication do they give marfans syndrome pts | blood pressure meds |
| homocystinuria is an inborn error of the metabolism of the amino acid _ | methionine |
| enzyme deficiency leading to excessive phenylalnine | phenylketonuria |
| alkaptonuria and ochronosis are rare enzyme deficiency leading to excessive _ _ | hoogentisic acid |
| inborn error of amino acid transport characterized by impaired tubular absorption | cystinuria |
| a group of genetic disorders that involve the pathways for the storgae of carbohydrates | glycogen storage disease |
| hereditary disease in which the metabolism and storgae of fats is abnormal | gauchers disease |