Random Topics Flashcards
Which MD presents with sx age 2-3, proximal muscle weakness, Gower sign, calf pseudohypertrophy, dilated cardiomyopathy, elevated CK, and treated with glucocorticoids?
Duchenne Muscular Dystrophy (absent dystrophin)
XLR inheritance
Which MD presents with milder weakness than Duchenne, cardiomyopathy, and presents age 5-15?
Becker Muscular Dystrophy
XLR inheritance
Which MD presents age 12-30, facial weakness, grip myotonia, dysphagia, arrhythmias, cataracts, excessive daytime sleepiness, and testicular atrophy?
Classic Myotonic Dystrophy
AD inheritance
Trinucleotide repeat in DMPK gene
What dx presents with parathyroid adenomas, pituitary adenomas, and pancreatic/GI tumors?
MEN1
What dx presents with medullary thyroid cancer and pheochromocytoma?
MEN2
How do you differentiate MEN2A from MEN2B?
MEN2A has parathyroid hyperplasia and MEN2B has mucosal neuromas and marfanoid habitus
Neuromas kind of look like B shape, and marfanoid habitus is a B-male
What dx presents with massive amounts of watery diarrhea, hypokalemia, episodic flushing, mass in the pancreatic tail, and can sometimes correspond with MEN1?
VIPoma
What dx presents with multiple ulcers in the stomach, duodenum, and small intestine, severe diarrhea, and thickened gastric folds on endoscopy?
Gastrinoma
Which dx causes bone pain and deformity, osteolytic or mixed lytic/sclerotic bone lesions, can cause hearing loss and radiculopathy, giant cell tumor or osteosarcoma, has elevated alk phos but normal calcium and phosphate, is a dysfunction of osteoclasts, and is treated with bisphosphonates?
Paget disease
Which dx causes bone pain and presents with elevated alk phos, elevated PTH, normal/decreased calcium, decreased phospate, and decreased Vit D?
Osteomalacia/Rickets
What’s the most common cause of unilateral nipple bleeding?
Intraductal papilloma
What tumor marker is elevated in hepatocellular carcinoma?
AFP
What 3 fetal conditions cause elevated maternal serum AFP?
- Open neural tube defects
- Ventral wall defects
- Multiple gestations
What 2 fetal conditions cause decreased maternal serum AFP?
- Trisomy 18
2. Trisomy 21
How do you differentiate between Trisomy 18 and Trisomy 21 on second-trimester quad screen?
Both:
- Decreased AFP
- Decreased estriol
Trisomy 18:
- Decreased B-hCG
- Normal Inhibin A
Trisomy 21:
- Increased B-hCG
- Increased Inhibin A
What tumor marker is elevated in non-seminomatous germ cell testicular tumors?
AFP
What 2 tumor markers are elevated in malignant biliary obstruction?
- AFP
2. Alk phos
What might a low level of PAPPA at 8-14 weeks gestation mean?
Increased risk of IUGR, premature delivery, preeclampsia, and stillbirth
Do seminomas have elevated AFP?
No
Do mixed germ cell tumors have elevated AFP?
Yes
Can mixed germ cell tumors metastasize to the anterior mediastinum?
Yes
Which testicular tumor has elevated hCG and LDH?
Seminoma
Which testicular tumor has elevated AFP and hCG?
Mixed germ cell tumor
Which testicular tumor can cause increased estradiol in a man?
Leydig