Got this one wrong because of those 2 unaffected children. Here's the explanation from FA pg 59:
Mitochondrial inheritance - Transmitted only through the mother. All offspring of affected females may show signs of disease.
Variable expression in a population or even within a family due to heteroplasmy.
Heteroplasmy basically means that multiple mitochondria are transmitted to each offspring. Their ratio may change at each generation, and cause more severe or less severe disease, even within the same family.
Those unaffected dudes lucked out.
SIADH: + Excessive free water retention + Euvolemic hyponatremia with continued urinary Na excretion + Urine osmolality > serum osmolality
Body responds to water retention with DECREASED aldosterone and INCREASED ANP and BNP
Water retention => Less aldosterone => Less ENAC channels => Less sodium reuptake => Loss of sodium in urine
...migrant workers ...has not received routine medical care ==> she was not screened for hypothyroidism
Yeah, so, turns out this is not Nephrogenic DI due to lithium use, you don't give lithium to treat schizophrenia.
Nonmaleficence: โDo no harm.โ
Even if the patient wants to die, I guess.
Paclitaxel hyperstabilizes polymerized microtubules (made up of alpha- and beta- tubulin)
FA pg 567:
Congenital solitary functioning kidney: Condition of being born with only one functioning kidney. Majority asymptomatic with compensatory hypertrophy of contralateral kidney, ...
Remember kids, GFR corresponds with Salt (mineralocorticoids), Sugar (glucocorticoids), and Sex (androgens).
FA pg 70:
Vit E deficiency:
Neurologic presentation may appear similar to vitamin B12 deficiency, but without megaloblastic anemia, hypersegmented neutrophils, or ย serum methylmalonic acid levels.
Testicles have significant aromatase activity. This enzymatic activity is regulated by LH (and of course bHCG)
https://www.ncbi.nlm.nih.gov/pubmed/9267128
It can't be the Facial nerve, physical examination was normal. Someone would probably notice the face symptoms.
I went with Glossopharyngeal, but that wasn't it.
I spent like 5 minutes trying to figure out what kind of trick question this was. They're just trying to get you to figure out 'oh look the spleen is YUGE!'
Nonmaleficence: โDo no harm.โ
Even if the patient wants to die, I guess.
Frontotemporal dementia (formerly known as Pick disease): Early changes in personality and behavior (behavioral variant), or aphasia (primary progressive aphasia). May have associated movement disorders (eg, parkinsonism).
While this presents very similiarly to Hungtington's, you can differentiate it because in this stem it says "atrophy of the frontal lobes bilaterally" whereas Huntington's has atrophy of caudate and putamen with ex vacuo ventriculomegaly.
Patient has a craniopharyngioma. Most common childhood supratentorial tumor. Derived from remnants of Rathke pouch (oral ectoderm). Calcification is common. Cholesterol crystals found in โmotor oilโ-like fluid within tumor.
A cystic suprasellar mass with calcifications and enhancement of the wall or solid portions in a child or adolescent is almost always a craniopharyngioma.
May be confused with pituitary adenoma (both cause bitemporal hemianopia).
Got this one wrong because of those 2 unaffected children. Here's the explanation from FA pg 59:
Mitochondrial inheritance - Transmitted only through the mother. All offspring of affected females may show signs of disease.
Variable expression in a population or even within a family due to heteroplasmy.
Heteroplasmy basically means that multiple mitochondria are transmitted to each offspring. Their ratio may change at each generation, and cause more severe or less severe disease, even within the same family.
Those unaffected dudes lucked out.
Oxytocin uses IP3 signaling pathway.
GnRH, Oxytocin, ADH (V1-receptor), TRH, Histamine (H1-receptor), Angiotensin II, Gastrin.
FA mnemonic: "GOAT HAG"
This patient has small cell carcinoma. This type of cancer is associated with paraneoplastic syndromes such as: Cushing Syndrome, SIADH, or antibodies against Ca2+ channels (Lambert-Eaton) or neurons. Amplification of myc oncogenes is also common.
SIADH (Syndrome of inappropriate antidiuretic hormone secretion) is characterized by:
Body responds to water retention with aldosterone and ยANP and BNP. That is what causes the increased urinary Na+ secretion ยwhich leads to normalization of extracellular fluid volume ยand the euvolemic hyponatremia.
Can anyone answer why this one can't be F. Beta thalasemia major? I was thinking becaues of his anemia and the "european descent" which includes the mediteranian europeans. Unless NMBE writers think that european only means the ones with extra white people lol
Use the Hardy-Weinberg equation
Patient has Midsystolic murmur heard at the cardiac apex. there is also a LEFT ATRIAL abnormality. Echo shows LEFT ATRIUM is enlarged.
Mid systolic... enlarged left atrium...
Best choice: Mitral Regurg
Familial adenomatous polyposis is an autosomal dominant mutation. Thousands of polyps arise starting after puberty; pancolonic; always involves rectum. Prophylactic colectomy or else 100% progress to CRC.
Autosomal dominant diseases have, on average, 50% chance of being passed down to offspring.
FA pg 70:
Vit E deficiency:
Neurologic presentation may appear similar to vitamin B12 deficiency, but without megaloblastic anemia, hypersegmented neutrophils, or ย serum methylmalonic acid levels.
This explains it really well with a picture: https://www.med.illinois.edu/m2/pathology/PathAtlasf/Atlas01.html.
Hydropic change = one of the early signs of cellular degeneration in response to injury that results in accumulation of water in the cell. Hypoxia/ischemia leads to decease in aerobic respiration in the mitochondria and decreased ATP production due to failure of the Na+/K+ ATPase leading to Na+ and water diffusion into the cell. Individual tubule cells appear swollen and "empty" with almost occluded lumen, glomerulus is hypercellular.
B-HCG and LH,FSH,TSH share same alpha subunit, so HCG can activate those receptors if its in high enough quantity. Activating LH receptor will lead to more Testosterone from the Leydig cells. More testosterone can lead to more estrogen formation via aromatase.
WHY she has a huge ass liver too? I don't understand how you can choose big spleen over big liver or visa versa
This is mullerian agenesis. Normal ovaries but absent uterus.
Patient has acutely decompensated heart failure, most likely due to an MI 5 days ago. Orthopnea-dyspnea-edema would mean he likely also has jugular venous distention and hepatic congestion.