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UWorld Journal > UWorld Journal > Flashcards

UWorld Journal Flashcards

1
Q

copper reduction test

A

nonspecifically detects presence of reducing sugar such as fructose, glucose, and galactose

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2
Q

essential fructosuria

A

benign, autosomal recessive disorder causes some of dietary fructose load to be secreted in urine unchanged due to defective metabolism by fructokinase (so deficient in Aldolase B)

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3
Q

hypocalcemia symptoms

A

paresthesias (lips, mouth, hands, and feet), muscle twitching or cramps

worsening–> trismus or tetany with changes in mental status and generalized seizures

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4
Q

insulin types

A

basal long acting: glargine (once daily) and NPH (twice daily)

short acting: lispro (peak 2-3 hrs), aspart (peak 2-3 hours), regular (peal 30-90min, best for postmeal)

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5
Q

Calcitriol

A

active form of vitamin D

chosen over calcidiol because the conversion of calicidiol to calcitriol is dependent on parathyroid hormone

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6
Q

what are thiazolidinediones?

A

lower glucose by reducing insulin resistance by upregulating genes

takes several days to weeks to observe significant reduction in glucose

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7
Q

genes upregulated by thiazolidinediones

A
  • glucose transporter-4 (GLUT4)= insulin-responsive transmembrane glucose transporter expressed in adipocytes and skeletal myocytes
  • adiponectin= cytokine secreted by fat tissue that increases the # of insulin-responsive adipocytes and regulates fatty acid oxidation
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8
Q

metformin functions by

A

acting as a noncompetitive inhibitor of mitochondrial glycerol-3-phosphate dehydrogenase–> significant reduction in hepatic glucose production

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9
Q

risk of radioactive iodine-131

A

significant tissue damage to throid gland–> radiation induced hypothyroidism and thyroid carcainoma

treat with potassium iodide

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10
Q

Wolff-Chaikoff effect

A

large increases in serum iodide levels inhibit iodine organification –> reduce thyroid hormone release

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11
Q

medullary thyroid cancer

A

enlarged thyroid nodule with elevated calcitonin level

calcitonin from the parafollicular C cells

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12
Q

multiple endocrine neoplasia 2B (MEN2B) diseases

A

mucosal neuromas, marfanoid habitus (arm span>height, long fingers, joint laxity) medullary thyroid cancer, pheochromocytomas

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13
Q

Pheochromocytomas symptoms

A

paroxysmal hypertension, flushing, diaphoresis, and headaches due to episodic secretion of catecholamines

5 P’s: Pressure (hypertension), pain (headache), perspiration, palpitations, and pallor (alpha1 vasoconstriction)

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14
Q

Cushing disease

A

ACTH-secreting pituitary adenoma

Cushing syndrome is just increased cortisol due to different things

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15
Q

characteristics of papillary carcinoma cells

A

large wtih overlaping nuclei containing finely dispersed chromatin (ground glass appearance aka Orphan Annie eye)

lots of intranuclear inclusion bodies and grooves

psammoma bodies (laminated calcium deposits)

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16
Q

biopsy of subacute granulomatous thyroiditis (de Quervain thyroiditis)

A

early- neutrophilic infiltrate with microabscess formation

then- lymphocytic infiltrate with macrophages and multinucleated gian cells

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17
Q

Conn syndrome

A

aldosterone-producing adrenal adenoma leading to primary hyperaldosteronism

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18
Q

aldosterone escape phenomenon

A

high aldosterone levels–> increased intravascular volume–> increased renal blood flow and augmented release of atrial natriuretic peptide.–> increased sodium excretion by the renal tubues–> limits net sodium retention and prevents the development of overt volume overload and significant hypernatremia

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19
Q

histopathological characteristic of gynecomastia

A

ductal epithelial hyperplasia surrounded by dense stromal fibrosis

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20
Q

common pathologic causes of gynecomastia

A
  • obesity (increased aromatase conversion of testosterone to estrogen)
  • hyperthyroidism (increased LH secretion and estrogen production)
  • cirrhosis (increased aromatse activity, decreased clearance of estrogens)
  • chronic kidney disease (decreased testosterone production)
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21
Q

tamoxifen

A

*selective estrogen receptor modulator
inhibits effects of estrogen on breast tissue
*efficient for preventing and treating gynecomastia in patients on androgen-deprivation therapy
*increase risk for endometrial hyperplasia and cancer

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22
Q

Spironolactone

A

K+ sparing diuretics

potent antiandrogen that decreases testosterone production and inhibits the testosteone receptor

commonly used to treat heart failure

side effect- gynecomastia, decreased libido, and impotence

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23
Q

deficiency of dihydrobiopterin reductase

A
  • the enzyme necessary to convert phenylalnine to tyrosine and from tryosine to DOPA
  • hyperphenylalanemia and elevated prolactin
  • impaired phenylalanine hydroxylase activity and low dopamine levels from impaired tyrosine hydroxylase activity
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24
Q

tyrosinase deficiency

A

causes albinism

melanin is synthesized in melanocytes from tyrosine by tyrosinase

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25
Q

proximal tubules reabsorb ____ % of water filtered by the glomeruli

A

> 60%

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26
Q

ADH acts on which part of the kidney

A

collecting ducts to change how much more water it needs to reabsorb (additional water reabsorption to the reabsorption that happens in the proximal tubules)

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27
Q

Goodpasture syndrome

A

combined presentation of renal failure and pulmonary hemmorhage in patients with anti-glomerular basement membrane

*autoantibodies against alpha 3 chain of type IV collagen

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28
Q

anti-glomerular basement membrane (anti-GBM) disease

A

nephritic
deposits composed of IgG and C3
anti-GBM antibodies target collagen type IV, a component of the glomerular basement membrane–> subsequent complement deposition–> rapidly progressive (crescentic) glomerulonephritis

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29
Q

Glomerular cresents composed of

A

proliferating parietal cells with an infiltration of monocytes and macrophages are seen on ligh microscopy

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30
Q

Erythropoiesis-stimulating agents

A
  • treat anemia of chronic kidney disease
  • increased risk for thromboembolic events due to increased blood viscosity
  • hypertension
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31
Q

Vasopressin effects on urea

A

vasopressin activates urea transporters in the medullary collecting duct–> increaseing urea reabsorption and decreasing renal urea clearance (allows for the production of maximally concentrated urine)

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32
Q

most comomon pathologic cause of unilateral fetal hydronephrosis

A

narrowing or kinking of the proximal ureter at the ureteropelvic junction

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33
Q

chronic renal allograft rejection results in

A

obliterative intimal thickening, tubular atrophy, and interstitial fibrosis

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34
Q

hyperacute transplant rejection due to

A

preformed antiboies against graft

see gross mottling and cyanosis, arterial fibrinoid necrosis and
capillary thombotic occlusion

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35
Q

acute transplant rejection due to

A

exposure to donor antigens induces humoral/cellular activation of naive immune cells

  • humoral:C4d deposition, neutrophilic infilitate, necrotizing vasculitis
  • cellular: lymphocytic interstitial infiltrate and endotheliitis
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36
Q

chronic transplant rejection due to

A

low-grade immune response refractory to immunosuppressants

  • vascular wall thickening and luminal narrowing
  • interstitial fibrosis and parenchyma atrophy
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37
Q

Graft vs host disease

A
  • commonly seen with bone marrow transplantation
  • when competent donor T-cells transplanted into an immunocompromised patient and subsequently attack the recipient’s organs
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38
Q

acidosis stimulates what in the kidneys

A

-renal ammoniagenesis (process where renal tubular epithelial cells metabolize glutamine to glutamate, generating ammonium that is excreted in urine and bicarb that is absorbed into blood)

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39
Q

multiple schlerosis develop _________ a few weeks after developing an acute lesion of the spinal cord

A

spastic bladder (due to presence of upper motor neuron lesion in spinal cord)

increased urinary frequency and urge incontinence

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40
Q

ACE inhibitors (-pril) block ACE and cause

A
  • decrease the conversion of angiotensin I to angiiotensin II
  • increase bradykinin levels
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41
Q

ACE inhibitors effects on creatinine

A

acute rise in serum creatinine by blocking angiotensin mediated efferent arteriold vasoconstriction

–> reduction in renal filtration fraction–> can lead to renal failure if patients are dependent on efferent arteriole constriction

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42
Q

how can humans acquire schistosomiasis?

A

-contact with freshwater sources that contain snails infected with Schistosoma larvae

  • S japonicum and S mansoni cause intestinal and hepatic schistosomiasis
  • S haematobium cuases urinary schistosomiasis
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43
Q

virus carried by bats

A

rabies

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44
Q

filtration fraction (FF)

A

fraction of plasma flowing through glomeruli filtered across the glomerular capillaries into Bowman’s space

FF=GFR/RPF (renal plasma flow=RPF)
RPF= RBF*(1-Hematocrit)

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45
Q

most of the K+ filtered by the glomeruli is resorbed where

A

proximal tubule and loop of Henle

late distant and cortical collecting tubules are the primary sites for regulation of K+ concentration in the urine

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46
Q

aldosterone - where does it act in the kidney

A

acts on the principal and intercalated cells of the renal collecting tubules to cause resorption of soidum and water and loss of potassium and hydrogen ions

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47
Q

aldosterone receptor antagonists

A

sprionolactone and eplerenone

important side effect: gynecomastia

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48
Q

signs of hyperaldosteronism

A

hyertension, hypokalemia, metabolic alkalosis and decreased plasma renin activity

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49
Q

detrusor overactivity

A

cause urge incontinence–> frequent urge to urinate

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50
Q

renal cell carcinoma- findings

A

hematuria, renal mass of proximal tubules, malignant cells on histopathology

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51
Q

genetic component of renal cell carcinoma

A

most are sporatic

some are associated with von Hippel-Lindau (VHL) disease (autosomal dominant disorder due to deletion or mutation of the VHL tumor suppressor gene on chromosome 3p)

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52
Q

Somatic pain from appendicitis

A

inflammed appendix irritates the parietal peritoneum and abdominal wall to cause more severe somatic pain that shifts from umbilical region to McBurney point (2/3 of distance from umbilicus to anterior superior iliac spine)

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53
Q

3 types of groin hernias

A

direct inguinal, indirect inguinal, and femoral
direct and indirect inguinal occurs above the inguinal ligament
femoral occurs below inguinal ligament

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54
Q

femoral hernias location

A

lateral to pubic tubercle and lacunar ligament
medical to femoral artery and vein

more common in women and tend to occur on the right side

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55
Q

VIPoma

A

vasoactive intestinal peptide
–> watery diarrhea, hypokalemia, and achlorhydria syndrome(absence of HCl in gastric secretions) (pancreatic cholera)

VIP stimulates pancreatic bicarb and chloride secretion, and its binding to intestinal epithelial cells leads to adenylate cyclase activation and increased cyclic AMP production, causing sodium, chloride, and water secretion into the bowel

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56
Q

somatostatin

A

aka octreotide

decreases production of many GI hormones

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57
Q

Cholecystokinin

A

causes increased secretion of pancreatic enzymes and bicarb, gallbladder contraction, and inhibition of gastric emptying

produced by I cells of the proximal small bowel mucosa in response to fatty acids and amino acids

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58
Q

Hepatitis A virus

A

most commonly silent or subclinical in young children
can present as acute, self-limited illness characterized by jaundice, malaise, fatigue, anorexia, nausea, vomiting, RUQ pain, or aversion to smoking

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59
Q

what kills cells with decreased or absent MHC class I proteins on their surfaces?

A

Natural killer cells

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60
Q

Natural killers cells activated by

A

interferon-gamma and IL-12

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61
Q

Small intestinal bacterial overgrowth (SIBO)

A
  • characterized by overproduction of vitamin K and folate–> nausea, bloating, ab discomfort, and malabsorption
  • caused by gastric bypass
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62
Q

test for Meckel diverticulum

A

99mTc-pertechnetate scan

increased uptake of 99mTc-pertechnetate in the periumbilical/RLQ

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63
Q

cause of Meckel diverticulum

A

ileal outgrowth due to failed obliteration of the vitelline (omphalomesenteric) duct

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64
Q

why do fructose have a faster metabolism compared to other carbohydrates?

A

it bypasses a major regulatory step in glycolysis (phosphofructokinase)

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65
Q

number of cells needed for Shigella to cause disease

A

as few as 10-500 cells

Shigella is able to invade tissues and is highly adapted to surviving the acidity of stomach and bacteriostatic action of bile

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66
Q

most prominent organisms isolated from intraabdominal infections

A

Bacteroides fragilis and E. coli

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67
Q

Vibrio cholerae (description of cells and where they are found)

A
  • oxidase-positive, gram-negative, comma shaped organism
  • found in contaminated food or water ingestion
  • treat with fluid replacement
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68
Q

Vibrio cholerae- what does the cholera toxin do?

A

activates adenylate cyclase in intestinal epithelial cells–> increased cyclic adenosine monophosphate, enhanced chloride efflux and decreased dosium reabsorption
induces mucin ejection by goblet cells–> causes massive, water diarrhea with mucus and sloughed epithelial cells

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69
Q

how does lactase deficiency lead to watery diarrhea?

A

undigested lactose accumulate in small intestine–> increase in secretion of water and electrolytes in intestinal lumen

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70
Q

how can carcinoembryonic antigen (CEA) be used to help monitor colon cancer recurrence?

A

a glycoprotein involved in cell adhesion
elevated initial CEA levels associated with worse prognosis

higher in smokers

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71
Q

cause of annular pancreas

A
  • abnormal migration of the ventral pancreatic bud
  • second part of the duodenum surrounded by ring of pancreatic tissue
  • the annular pancreas can compress the duodenal lumen or obstructed pancreatic drainage (acute or chronic pancreatitis)
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72
Q

Aspergillus flavus and Aspergillus parasiticus

A

produce aflatoxins and grow on food–> consumption strongly associated with hepatocellular carcinoma
p53 mutations G:C–>T:A transversaion in codon 249

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73
Q

Lactase deficiency and pH

A
  • fermentation of undigested lactose –> production of short-chain fatty acids that acidify the stool (decrease stool pH)
  • produce hydrogen gase (increased breath hydrogen content)
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74
Q

anterior vs posterior duodenal ulcers

A

anterior wall of the duodenal bulb prone to perforation
posterior wall pront to hemorrhage

duodenal ulcers more common than gastric ulcers

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75
Q

artery associated with posterior duodenal wall

A

gastroguodenal artery

artery located behind the posterior duodenal wall so can when eroded by duodenal ulcers, cause upper gastrointestinal bleeding

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76
Q

vitamin E deficiency

A

vitamin E protect fatty acids from oxidation
so deficiency cause oxidative injury, especially neurons with long axons and erythrocytes
–>neuromuscular dz and hemolytic anemia

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77
Q

production of intrinsic factor

A

parietal cells int he body and fundus of stomach

binds to vitamin B12 to form complex that is absorbed in terminal ileum

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78
Q

long-term hyperglycemia most likely contributed to cataract formation by causing

A

oversaturation of polyol pathway

polyol pathway: (first step is to convert glucose into sorbital by aldose reductase, which gets converted slowly to fructose with sorbitol dehydroenase)
too much glucose –> too much sorbital that can’t be converted to fructose fast enough

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79
Q

How does sorbitol accumulatioin due to hyperglycemia leads to diabetic retinopathy, neuropathy, and nephropathy?

A

increases cellular osmotic and oxidative stress

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80
Q

insulin suppresses ________ by directly actin on the alpha cells

A

glucagon

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81
Q

gene mutation assoicated with DiGeaorge syndrome

A

22q11.2 microdeletion

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82
Q

impaired development of which embryonic structures associated with DiGeorge Syndrome

A

Third pharyngeal pouch–affects inferior parathyroid and thymus
Fourth pharyngeal pouch- affects superior parathyroid

leads to hypocalcemia and T cell deficiency

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83
Q

DiGeorge Syndrome-hypocalcemia increased ________ excitability

  • ->tapping on facial nerve elicits twiching of nose and lips (_______ sign)
  • -> inflation of blood pressure cuff leads to carpal spasm (_________sign)
A

neuromuscular, Chvostek, Trousseau

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84
Q

low bone density and vaginal dryness are common sequelae of decreased _________

A

estrogen

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85
Q

if hyperprolactinemia is not treated, prolonged hypogonadism (low estrogen) causes:

A

accelerated bone loss–> fragility fractures

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86
Q

what is maple syrup urine disease? (genes)

A

autosomal recessive disorder characterized by the defective breakdown of branched-chain amino acids (leucine, isoleucine, and valine)

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87
Q

maple syrup urine disease: mutations in branched-chain alpha-ketoacid dehydrogenase complex result in accumulation of ______________ in ___ and _________tissues

A

branched chain amino acids; serum; peripheral

–> neurotoxicity that includes seizures, irritability, lethargy, and poor feeding

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88
Q

the sweet odor of the urine in maple syrup urine disease due to:

A

metabolite of isoleucine

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89
Q

Branched-chain alpha-ketoacid dehydrogenase (in addition to pyruvate dyhydrogenase and alpha-ketoglutarate dehydrogenase)requires 5 cofactors:

A

Thiamin, Lipoate, Coenzyme A, FAD, NAD (mnemonic: Tender Loving Care for Nancy)

some patients with maple syrup urine disease improve with high dose thiamine treatement wtih lifelong dietary restrictions

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90
Q

why would long term glucocorticoid use decrease cortisol?

A

–> atrophy of hypothalamic CRH- releasing neurons, pituitary corticotrphic cells, and adrenal zona reticularis and zona fasciulata ==> acute adrenal insufficiency (adreanl crisis)

have low CRH, ACTH, and cortisol

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91
Q

Why does T3 levels remain normal in hypothyroidism?

A

T3 has short half-life and conversion of T4 to T3 in peripheral tissues can be variable, T3 levels fluctuate

serum T3 levels often remain normal until relatively late-stage hypothyroidism

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92
Q

what is maturity-onset diabetes of the young and what is the enzyme that is mutated?

A

mild-nonprogressive hyperglycemia that often worsens iwth pregnancy-induced insuline resistance.

mutation with glucokinase

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93
Q

Becuase the symptoms of pheochromocytoma result form increase catecholamine secretion, the symptoms are ____________ due to fluctuations in catecholamine synthesis by tumor

A

episodie

symptoms: headache, tachycardia/palpitations, sweating, hypertension

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94
Q

three components of craniopharyngioma

A

solid, comprised of actual tumor cells
cyctic, filled with “machinery oil” liquid
calcified component

tumor arising from remnants of Rathke’s pouch

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95
Q

how does craniopharyngioma leads to hyperprolactinemia

A

compression of pituitary stalk–> loss of dopaminergic inhibition so hyperprolactinemia

also cause hypopituitarism

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96
Q

risk of pancreatitis rises with increasing _____________

A

triglyceride

pancreatic lipase metabolize triglycerdies to free fatty acids, which have toxic and inflammatory effects on pancreas

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97
Q

_________ are the most effective agents for treatment of hypertriglyceridemia

A

fibrates (eg. fenofibrate)

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98
Q

____________ is characterized by a mixed cellular infiltrate with occasional multinuclear giant cells

A

Subacute (de Quervain, granulomatous) thyroiditis

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99
Q

_________________ is characterized with mononuclear infiltrate consisting of lymphocytes and plasma cells, often with germinal centers, residual follicles surrounded by Hurthle cells (large oxyphilic cells filled with granular cytoplasm)

A

Hashimoto thyroiditis

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100
Q

methimazole and propylthiouracil inhibit ___________________, enzyme responsible for both iodine organification and coupling of idotyrosines

A

thyroid peroxidase

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101
Q

thyroid peroxidase is the enzyme responsible for both

A

iodine organification and coupling of idotyrosines

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102
Q

mealtime insulin analogs (eg. lispro, aspart, glulisine) with amino acide substitution at __ terminal end of the ____

A

C, B

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103
Q

____________ an oxidase-positive, non-lactose-fermenting, Gram-negative oranism (common cause of UTI with indwelling bladder catheters)

A

Pseudomonas aeruginosa

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104
Q

acute renal allograft rejection is associated with diffuse ________ infiltration of the renal _________, _______, and _______

A

lymphocytic; vasculature (endotheliitis), tubules, and interstitium

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105
Q

why is inulin clearance commonly used to calculate the GFR?

A

freely filtered at the glomerulus

neither reabsorbed nor secreted by renal tubules

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106
Q

how is acyclovir nephrotoxic?

A

excreted in urine via glomerular filtration and tubular secretion
when concentration exceeds its solubility, crystallization, crystalluria, and renal tubular damage may result if no adequate hydration

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107
Q

_________ binds to immunophilin FK-506 binding protein (FKBP) in cytoplasm to form complex that binds and inhibits mTOR–> blocks interleukin-2 signal tranduction and prevents cell cycle rogression and lymphocyte proliferation

A

Sirolimus

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108
Q

__________________ IgA immune complex-mediated vasculitis that generally follows upper respiratory or other minor infection

A

Henoch-Schonlein purpura

type III hypersensitivity reaction
self-limited and resolves after circulating immune complexes clear

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109
Q

clinical manifestations of Henoch-Schonlein purpura

A
  • palpable purpura
  • arthralgias
  • abdominal pain, intussusceptions
  • renal disease similar to IgA nephropathy (hematuria)

most common systemic vasculitis in children

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110
Q

left 12 rib overlies the parietal pleura ____________ and the kidney___________

A

medially; laterally

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111
Q

CRAB mneumonic for multiple myeloma’s symptoms

A

HyperCalcemia
Renal involvment
Anemia
Bone lytic lesions/ Back pain
osteolysis –>hypercalcemia–>negative feedback on PTH–> urinary loss of Ca2+
renal failure–> decreased 1,25-dihydroxyvitamin D–> decreased Ca2+ reabsorption

Monoclonal M protein spikes

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112
Q

symptoms of renal cell carcinoma

A

hematuria, flank pain, abdominal mass (proximal tubules), ppolycythemia (increased erythropoietin production by tumor), fever, weight loss

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113
Q

Which of the following nephron segments responds to vasopressin by increasing absorption of a specific solute that is important for generating a high medullary concentration gradient?

A

medullary segment of the collecting duct

medullary interstitium is the region of highest osmolarity in the kidney

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114
Q

__________________ of the kidney contain the most dilute urine while the _______________ will contain the most concentrated urine.

A

distal tubule; collecting ducts

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115
Q

tubular fluid osmolarity in presence of high ADH

A

1) proximal tubule= water reabsorbed with electrolytes so isotonic with plasma (300 mOsm/L)
2) descending limb of loop of Henle= free water drawn out of tubules so hypertonic (>300mOsm/L)
3) thin ascending limb of loop of Henle= electrolytes, not water, reabosrbed, so hypotonic (<300 mOsm/L)
4) distal convoluted tubule= impermeable to water so hypotonic, continue to reabsorb solutes (100mOsm/L)
5) collecting duct= water leaves, hypertonic urine (up to 1200 mOsm/L)

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116
Q

most dangerous adverse effect of amphotericin B

A

nephrotoxicity–> hypokalemia, anemia, hypomagnesemia

drug of choice to treat many systemic mycoses

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117
Q

___________ is a DNA-dependent RNA polymerase that incorporates short RNA primers into replicating DNA

A

Primase

crucial enzyme for bacterial replication as DNA polymerase cannot initiate DNA synthesis without shor nuclei acid sequence primer

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118
Q

Deposition of ______ within Bowman’s space is pathologic step in crescent formation in rapidly progressive glomerulonephritis

A

Fibrin

leakage of fibrin into Bowman’s space–> proliferation of parietal cells, monocytes, and macrophages

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119
Q

What is found in immunofluorence and light microscopy of Acute poststreptococcal glomerulonephritis?

A

IM: granular (“starry sky”) (“lumpy-bumpy”) due to IgG, IgM, and C3 deposition along GBM and mesangium

LM: enlarged glomeruli and hypercellular

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120
Q

what (3) things in urine will promote salt cyrstallization leading to renal calculi (kidney stones)?

A

increased calcium (hypercalciuria), oxalate (hyperoxaluria), and uric acid (hyperuricosuria)

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121
Q

what are two things that can help prevent renal calculi formation (kidney stones)?

A

increased urinary citrate concentration and high fluid intake

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122
Q

what medications can help reduce risk of progession of worsening diabetic nephropathy?

A

ACE inhibitos or angiotensin II receptor blockers

along with glycemic and blood pressure control

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123
Q

how to calculate for the total filtration rate

A

total filtration rate of substance A= GFR * plasma concentration of substance A

GFR= inulin clearance

Total Filtration Rate of Substance A= (inuline clearance)(plasma concentration of Substance A)

net excretion rate of substance A=(inulin clearance)(plasma concentration of Substance A)- (tubular reabsorption of substance A)

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124
Q

treatment for 21-hydroxylase deficiency

A

adrenocorticotropic hormone (ACTH)

decrease in cortisol–> increase ACTH–.increase androgen overproduction

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125
Q

In Niemann-Pick disease, _______________ deficiency causes accumulation of lipid ____________

A

sphingomyelinase; sphingomyelin

clinical features: hepatospenomegaly, neurologic regression, and cherry-red macular spot in infancy

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126
Q

Growth hormone binds to cell surface receptors, leading to intracellular activation of ______________ pathway

A

JAK-STAT

nonreceptor tyrosine kinase
STAT induced IGF-1 gene transcription

same pathway used with prolactin, immunomodulators (cytokines, IL-2, IL-6,etc), G-CSF, erythropoietin, thrombopoietin

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127
Q

inflammation and accumulation of ____________ increases the volume of the retro-orbital tissues to cause proptosis/ exophthalmos

A

glycosaminoglycans

treat with high-dose glucocorticoids- their anti-inflammatory effects most helpful

antityroid drugs don’t improve ophthalmopathy

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128
Q

_________________ reduce synthesis of estrogen from androgens, suppressing estrogen levels in postmenopausal women and slowing progression of estrogen-receptor positive tumors

A

Aromatase inhibitors (eg. anastrozole, letrozole, exemestane)

aromatase needed to aromatize androgens to make estrogens (part of the P450 superfamily)

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129
Q

Multiple endocrine neoplasia type 1 characterized by tumors of __________, ___________, and __________

A

parathyroid gland, pituitary, and pancreas (“3P’s”)

primary hyperparathyroidism –> hypecalcemia or renal stones
pituitary (prolactinomas)–> bitemporal hemianopia and headache from mass effect
pancreas–> gastrinoma (Zollinger-Ellison syndrome), insulinoma and non-function tumors

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130
Q

Debranching enzyme deficiency (Cori disease)–> accumulation of ___________ wiht abnormally _______ (short or long) outer chains (limit dextrins) due to inability to degrade _______________ branch points

A

glycogen; short; alpha-1,6-glycosidic

present with hypoglycemia, ketoacidosis, heptomegaly, and muscle weakness and hypotonia

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131
Q

signs of androgenic steroid abuse (cardio, derm, genito, psych, breast, other)

A

cardio: increased hematocrit, increased LDL, decreased HDL
Derm: acne, hirsutism, male-pattern hair loss
genito: clitoromegaly, oligomenorrhea, testicular atrophy, decreased spermatogenesis
psych: depression, hypomania (female), aggressiveness, mood disorders (males)
breast: atrophy for female, gynecomastia for males
other: deepen voice, premature epiphyseal closure (kids)

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132
Q

21-hydroxylase help convert progesterone or 17-OH progesterone into ____________ and _____________, respectively.

A

11-Deoxcorticosterone (weak mineralocorticoid); 11-Deoxycortisol

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133
Q

skeletal findings in hyperparathyroidism most commonly involve the ________ bone in the __________ skeleton

A

cortical (compact); appendicular (pectoral girdle, pelvic girdle, and limbs)

subperiosteal thinning that appears radiologically as subperiosteal erosions in phalanges of hand, granular “salt-and-pepper” skull, and osteolytic cysts in long bones (osteitis fibrosa cystica)

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134
Q

glycogen storage disease type II (__________) caused by deficiency of _______________, an enzyme responsible for breaking down glycogen within acidic environment of lysosomes

A

Pompe disease; acid alpha-glucosidase (acid maltase)

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135
Q

Findings of Pompe disease (glycogen storage disease type II)

A

cardiomegaly, hypertrophic cardiomyopathy, hypotonia macroglossia hepatomegaly, exercise intolerance

normal blood glucose levels
muscle biopsy show accumulation of glycogen in lysosomes

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136
Q

why is insulin levels higher with oral glucose compared to IV glucose?

A

incretins=gastrointestinal hormones produced by gut mucosa that stimulate pancreatic insulin secretion due to sugar-containing meals

in IV glucose adminstration, incretin is absent so less insulin secretion

incretin= such as glucagon-like peptide-1 and glucose-dependent insulinotropic polypeptide (GIP)

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137
Q

hereditary orotic aciduria occurs due to a defect in what enzyme?

A

uridine 5’-monophosphate (UMP) synthase

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138
Q

tumor necrosis factor alpha (TNF-alpha) effects on insulin

A

TNF-alpha is a proinflammatory cytokine that induces insulin resistance through activation of serine kinases, which then phosphorylate serine residues on the beta subunits of insuline receptor (IR) and insuline receptor substrate 1 (IRS-1)–> inhibits tyrosince phosphorylation of IRS-1 by IR and hinders downstream signaling so resistance to normal actions of insulin

beta subunits of insulin receptors have tyrosine kinases that are activated when insulin attaches to the alpha subunits of the receptor to induce signaling

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139
Q

Testosterone purpose in sexual development

A

development of internal male genitalia, spermatogenesis, male sexual differentiation at puberty (muscle mass, libido)

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140
Q

estrogen purpose in sexual development

A

endometrial proliferation, development of ovarian granulosa cells, breast development

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141
Q

5alpha-reductase (what does it do? and describe the 2 types)

A

converts testosterone to DHT
-2 types: type 1 in postpubescent skin, type 2 in genitals
male fetus with defect in this enzyme–> external genitalia do not develop properly–> male pseudohermaphroditism

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142
Q

Thyroid peroxidase- what does it do?

A

catalyze oxidation of iodide, iodination of thyroglobulin, and coupling reaction between 2 iodinzed tyrosine residues to make MIT and DIT

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143
Q

symptoms of hereditary orotic aciduria

A

physical and mental retardation, megaloblastic anemia (elevated mena corpuscular volume, low reticulocyte count), elevated urinary orotic acid

patients have failure to thrive and hyperammonemic encephalopphy due to impaired urea synthesis

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144
Q

diabetes and cholesterol relationship

A

insulin resistance promote increased VLDL production
diabetics may develop a secondary Type IV or V hyperlipidemia (increased VLDL, chylomicrons) and/or secondary diabetic dyslipidemia with elevated LDL and low HDL

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145
Q

Dihydrotestosteron (DHT) purpose in sexual development

A

development of external male genitalia, growth of prostate, male-pattern hair growth

-also increases testosterone effects due to high affinity for testosterone receptor

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146
Q

what is hereditary orotic aciduria

A

rare autosomal recessive disorder of de novo pyrimidine synthesis

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147
Q

xanthelasma

A

xanthoma found on medial eyelids

xanthoma often associated with hypercholesterolemia

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148
Q

metabolic abnormalities associated with both highly-active antiretroviral therapy (HAART like for HIV) and Cushing’s

A

insulin resistance, hypertriglyceridedema, and reduced HDL cholesterol level

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149
Q

thiazide diuretics can cause (side effects)

A

hyperglycemia and hypertriglyceridemia, may have small effect on fat distribution (loop diuretics do not have these effects)

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150
Q

gestational diabetes effect on babies

A

1) beta cell hyperplasia and hyperinsulinism

2) after delivery, hypoglycemia due to excess insulin without the same amount of glucose as before

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151
Q

common adverse side effect of highly-active antiretroviral therapy (HAART) (for HIV)

A

medication-induced fat distribution (similar to Cushing’s)- lipoatrophy/lipodistrophy (loss of fat from face, butt, and extremities) and central fat deposition

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152
Q

Proton pump inhibitors side effects:

A

hypomagnesemia and increased risk of osteoporosis

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153
Q

Sheehan syndrome

A

ischemic necrosis of pituitary gland

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154
Q

pituitary apoplexy

A

hemorrage of the pituitary gland, different from Sheehan since that is ischemic necrosis

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155
Q

most prostate cancer are ________________ dependent

A

*androgen

require androgen deprivation therapy to slow progression and relieve bone pain from bone metastases

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156
Q

dihydrotestosterone (DHT)

A

converted from testosterone by 5-alpha reductase. so when testosterone drops, so does DHT

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157
Q

subcutaneous lipoatrophy associated with what enzymes (2)

A

nucleoside reverse transcriptase inhibitors (especially stavudine and zidoudine) and protease inhibitors

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158
Q

chromaffin cells’ roles (in adrenal medulla):

A

1) modified post-ganglionic sympathetic neurons derived from neural crest
2) stimulated by acetylcholine (released from the pre-ganglionic neurons)
3) secrete catecholamines (80% epinephrine and 20% norepinephrine)

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159
Q

effects of beta-blockers on glucose level

A

non-selective beta-blockers (e.g. propranolol, timolol, nadolol) inhibit norepinephrine/epinephrine-mediated compensatory reactions to hypoglycemia (cholinergic symptoms are unaffected such as sweating, hunger and paresthesias)

blockade of beta2-adrenergic receptors inhibits hepatic gluconeogenesis and peripheral glycogenolysis and lypolysis

use beta-blockers with caution in diabetic patients due to increased risk of hypoglycemia

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160
Q

epinephrine effects on glucose use

A

limits glucose use, also stimulates hepatic glycogenolysis and gluconeogenesis

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161
Q

what is leuprolide? how does leuprolide treat prostate cancer

A
  • gonadotrophin-releasing hormone analog
  • when deliverd in pulsatile fashion, can cause transient rise in LH and tesosterone production (agonist properties)
  • continuous GnR stimulation–> supresses pituitary LH release and leads to reduced production of testosterone by Leydig cells (antagonist properties)
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162
Q

amiodarone- what and its side effects

A

class II anti-arrythmic agent used to suppress life-threatening rhythm disturbances

40% iodine by weight so can alter thyroid function –> cause hypothyroidism

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163
Q

signs of phenylketonuria (PKU)

A

intellectual disability, gait or posture abnormality, eczema, and musty body odor
hypopigmentation of skin, hair, eyes, and catecholaminergic brain nuclei

(autosomal recessive)

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164
Q

MEN type 2 is associated with germ line mutations in the RET proto-oncogenes and is characterized by what disorders

A
  • pheochromocytomas
  • medullarythyroid cancer (malignancy of parafollicular C cells)
  • either parathyroid hyperplasia (MEN 2A) or mucosal neuromas and marfanoid habitus (MEN 2B)
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165
Q

T3 vs. T4 in negative feedback on TSH

A

T3 is the mainly one to have negative feedback

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166
Q

absorption of Ca and phosphate in vitamin D deficiency

A

Ca and phosphate both decreased–> increaed PTH

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167
Q

Meningoccocal septicemia can cause bilateral hemorrhagic infarction of the:

A

adrenal gland–> acute adrenal crisis (Waterhouse-Friderichsen syndrome)

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168
Q

structures arising from neural crest cells: MOTEL PASS

A

Melanocytes, Odontoblasts, Tracheal cartilage, Enterochromaffin cells, Laryngeal cartilage, Parafollicular cells of the thyroid, Adrenal medulla and all ganglia, Schwann cells and Spiral membrane

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169
Q

ions/electrolytes imbalances caused by primary hyperaldosteronism

A

increased aldosterone–> decreased K+ and H+, increased Na+ (Na+ does not increase above normal range)
H+ decrease–> metabolic alkalosis (bicarb will increase to compensate)

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170
Q

impaired metabolism of 11-deoxycorticosterone (leading to congenital adrenal hyperplasia)- clinical findings

A

increased production of adrenal androgens so have females with ambiguous genitalia
weak mineralocorticoid accumulate–> development of low-renin hypertension and hypokalemia even when aldosteron synthesis is impaired

different form 21-hydroxylase deficiency since you don’t have hypertension at all

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171
Q

5alpha-reductase deficiency effects

A

needed for conversion of testosterone to dihydrotestosterone so if deficient, will cause ambiguous genitalia in males not females

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172
Q

What injury will lead to permanent and transient central diabetes insipidus, respectively?

A
  • can be permenant if injury to hypothalamic nuclei

- transient if injury to posterior pituitary/ infundibular

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173
Q

Where does ADH production occur? (2 locations)

A

occurs in the paraventricular and supranuclei of the hypothalamus

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174
Q

exophthalmos of Graves’ disease caused by

A

lymphocytic infilitration, enlargment of the extraocular muscles from myositis, fibroblast proliferation, and overproduction of mucupolysaccharides in response to anti-thyroid antibodies

not adrenergic so don’t respond to beta blocker

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175
Q

FSH and what does it do/produce

for male

A

stimulates the release of inhibin B from the Sertoli cells in the seminiferous tubules of the testicles

produce androgen-binding protein locally, within the seminiferous tubules (responsible for high local testosterone concentration)

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176
Q

what is needed for spermatogenesis?

A

high local levels of testosterone and FSH

-defective FSH receptors will prevent spermatogenesis and cause low inhibin B levels

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177
Q

SIADH and relationship with Na+

A

hyponatremia (so no overload)

increased ADH–> excessive water reabsorption–> hypervolemia
–> supresses renin-aldosterone axis–> stimulates production of natriuretic peptides–> excretion of Na+ in urine (natriuresis)

–> patients have normal extracellular fluid volue and low pasma osmolaliy (euvolemic hyponatremia)

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178
Q

SIADH is associated to which cancer?

A

SIADH caused by small cell carcinoma of the lung

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179
Q

Hormone-sensitive lipase (HSL)

A
  • enzyme found in adipose tissue that catalyzes athe mobilization of stored triglyercides into free fatty acids (lead to ketone bodies) and glycerol (lead to glucose)
  • activated by stress hormones (catecholamines, glucagon, ACTH)
  • inhibited by insulin
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180
Q

enzyme used to convert T4 to T3

A

iodothyronine deiodinase aka 5’-deiodinase

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181
Q

Pheochromocytomas

A

catecholamine-secreting tumors arising from the chromaffin cells of the adrenal medulla or extra-adrenal sympathetic chain

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182
Q

symptoms of Meckel diverticulum

A

spontaneous but painless lower GI bleeding

potential lead point for intussusceptioin–> collicky ab pain and “currant jelly” (strawberry jam appearance) stools

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183
Q

hyperthyroidism and beta-adrenergic receptors

A

hyperthyroidism is associated with increased expression of beta-adrenergic receptors
–> hypertension, tachycardia, heat involerance, weight loss, and hyperreflexia

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184
Q

nerve at risk of injury during thyroidectomy

A

external branch of superior laryngeal nerve—> innervate cricothyroid muscle (tense vocal cords, so damage leads to low, hoarse voice with limited pitch range)

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185
Q

what is Reverse T3

A

inactive, formed mostly from the conversion of T4 in the periphery

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186
Q

what does fructose 2,6-bisphosphate do?

A
  • balance between gluconeogenesis and glycolysis
  • activates phosphofructokinase-1 (PFK-1) to convert fructose 6-phosphate to fructose 1,6-bisphosphate
  • inhibit gluconeogenesis, leading to decreased conversion of alanine and other gluconeogeneic substrates to glucose`
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187
Q

how does chronically elevated free fatty acid levels contribute to insulin resistance?

A

impairing insulin-dependent glucose uptake and increasing hepatic gluconeogenesis

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188
Q

bile acid-binding resins- what do they do and side effect?

A

inhibit enterohepatic circulation of bile acids–> synthesis of new bile acids and increase uptake of cholesterol to reduce LDL

side effect: hypertriglyceridemia

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189
Q

anterograde axonal transport ( away from nucleus, down axon, toward nerve terminal) mediated by what protein?

A

kinesin

retrograde axonal transport mediated by dynein

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190
Q

tetrodotoxin poisoning-source and how?

A

from pufferfish

toxin binds to voltage-gated Na channels in nerve/cardiac tissue–> prevent Na influx and depolarization

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191
Q

symptoms of tetrodotoxin poisoning

A

dizziness, weakness, loss of reflexes, paresthesias of face and extremities, nausea, vomiting, diarrhea, hypotension, respiratory failure

treat with gut lavage and charcoal

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192
Q

solubility of drug in the peripheral tissues

A

if tissue solubility is high: large amount of drug taken up from arterial blood, so low venous concentration–> saturation of blood needs more of the drug to become saturated so take longer for the onset of actions (want blood to be saturated for drug to work)

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193
Q

deficiency of ______________ results in recurrent infections by Neisseria species

A

complement factors that form the membrane attack complex (ie., C5b-C9)

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194
Q

general sensory innervation of the tongue:

1) anterior 2/3
2) posterior 2/3
3) posterior area of the tongue root

A

1) mandibular branch of trigeminal nerve
2) glossopharyngeal nerve
3) vagus nerve

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195
Q

gustatory innervation (taste buds) of tongue

1) anterior 2/3
2) posterior 2/3
3) posterior area of tongue root and taste buds of larynx an upper esophagus

A

1) chorda tympani branch of facial nerve
2) glossopharyngeal
3) vagus

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196
Q

clinical features of fragile X syndrome

A

long, narrow face, prominent forehead and chin, large testes, hyperlaxity of hang joints, developmental delay

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197
Q

how does muscarinic3 receptors promoting synthesis of nitric oxide lead to vasodilation?

A

NO diffuses to vascular smooth muscle cells to activate guanylate cyclase and increase intracellular cGMP to activate myosin light chain

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198
Q

functions of peroxisomes

A
  • oxidation of very long and branched-chain fatty acids

- hydrogen peroxide degradation

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199
Q

3 D’s of pellagra for niacin deficiency

A

dementia, dermatitis, diarrhea

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200
Q

symptoms of Vitamin A toxicity:

  • acute
  • chronic
  • tertogenic
A
  • acute: nausea, vomiting, vertigo, blurred vision
  • chronic: alopecia, dry skin, hyperlipidemia, hepatotoxicity, hepatosplenomegaly, visual difficulties
  • tertogenic: microcephaly, cardiac anomalies, and fetal death
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201
Q

myasthenia gravis- mechanism of action

does compound muscle action improve with stimulation?

A

autoimmune attack against postsynaptic nicotinic receptors

compound muscle action does not improve with stimulation

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202
Q

Lambert-Eaton myasthenia syndrome- mechanism of action

does compound muscle action improve with stimulation?

A

autoantibodies against presynaptic voltage-gated calcium channels

compound muscle action does improve with stimulation

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203
Q

Clostridium botulinum toxin- mechanism of action

A

inhibits acetylcholine release from presynaptic nerve terminals at NMJ

with decreased compound muscle action potential, but increase with repetitive nerve stimulation

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204
Q

minimal alveolar concentration- what is it used to measure and what affects it?

A

=intrinsic property of anesthetics, percentage of anesthetic in the inspired gas mixture that renders 50% of patients unresponsive

does not depend on type of surgery, duration of anesthesia, or sex, height, and weight

depend on body temp and decreases with increasing age

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205
Q

cryptococcus neoformans- histology, from what, who does it affect, and how is it transmitted?

A

spherical yeast forms with peripheral clearing and thick capsules; from soil and bird droppings

immunocompromised; respiratory tract

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206
Q

essential tremor- classic signs

A
  • familial tremor
  • tremor worsens while maintaining a particular posture
  • usually report that symptoms improve with alcohol consumption
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207
Q

treatment for essential tremor

A

propranolol- nonselective beta-adrenergic antagonist

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208
Q

what is the mechanism of action of triptans?

A

serotonin 5-HT1B/5-HT1D agonist- inhibit release of vasoactive peptides, promoting vasoconstriction, and blocking pain pathways in the brainstem

for migraines prophylaxis

209
Q

key features of somatic symptom disorder

A

excessive anxiety and preoccupation with >/= 1 unexplained symptoms

210
Q

key features of conversion disorder (functional neurologic symptom disorder)

A

neurologic symptom incompatible with any known neurologic disease; often acute onset associated with stress

211
Q

what is neurofibromatosis type I (von Recklinghause disease)

A

autosomal dominant neurocutaneous disorder due to mutations in NF1 tumor suppressor gene

hyperpigmented macules (cafe-au-lait spots_ over trunk after birth and increased risk of developing CNS neoplasms –> elevated intracranial pressure and headache

212
Q

mneumonic for eye muscle innervation

A

LR6-SO4-R3

213
Q

Oculomotoer nerve (CNIII) palsy- clinical features

A

-“down and out” due to unopposed action of the superior oblique and lateral rectus
-ptosis
-impaired pupillary constriction and accomodation
diagonal diplopia

214
Q

principal site for norepinephrine synthesis in brain

what does it control?

A

locus ceruleus (paired pigmented brainstem nucleus located in the posterior rostral pons near the lateral floor of the fourth ventricle)

control of mood, arousal, sleep-wake states, cognition, and autonomic function (ie blood pressure)

215
Q

4-drug combination to treat pulmonary tuberculosis

A

RIPE therapy

rifamycin (eg, rifampin, rifabutin), isoniazid, pyrazinamide, and ethambutol

216
Q

side effect of rifamycin

A

GI side effects, hepatotoxicity, minor drug reaction (increase in cytochrome P450), harmless red-orange discoloration of body fluids

mechanism of action: inhibit DNA-dependent RNA polymerase- prevent transcription and lead to deficiency of proteins necessary for mycobacterial survival

217
Q

mechanism of action of rifamycin

A

inhibit DNA-dependent RNA polymerase to prevent transcription and lead to deficiency of proteins necessary for mycobacterial survival

structural alteration of this DNA-dependent RNA polymerase induces bacterial resistance

218
Q

mechanism of bacterial resistance to penicillin

A

upregulation of beta-lactamase synthesis

resistance to beta-lactam drugs like penicillin, aminopenicillin, cephalosporins, and monobactams

219
Q

what type of food can cause Hepatitis A

A

contaminated water or food, with raw or steamed shellfish being the typical

transmission through fecal-oral route

220
Q

what chemokine receptor allows HIV virus to enter cells

A

CCR5- act as as a coreceptor to CD4 proteins since HIV virus uses CD4 as the primary receptor. HIV binds to both to enter cell

if cells don’t have CCR5 protein on membrane, then the virus binds to CD4 but cannot enter cell

221
Q

1) in what cell types are cholesterol converted to androgens in females?
2) where are androgens converted to estrogen?

A

1) theca interna (synthesis of androgens) (need LH input)

2) granulosa cells (contain aromatase) (need FSH input)

222
Q

what do interleukin-8 do?

A

chemokine produced by macrophages that induces chemotaxis and phagocytosis in neutrophils–>becomes pus

calls in the neutrophil to site of infection and then kills then after they arrived and di dtheir jobs

223
Q

clinical presentationof bacterial vaginosis

A

grayish-white, “fishy-smelling”, and mildly pruritic vaginal discharge

clue cells (epithelial cells covered with gram-variable rods)

caused by imbalance of vaginal bacterial flors–> overgrowth of Gardnerella vaginalis

224
Q

what landmarks will help distinguish between direct and indirect inguinal hernias?

A

inferior epigastric vessels

inguinal hernias different from femoral hernia since they are located above the inguinal ligament

225
Q

superior mesenteric vessels lie _____________ to the third part of the dudenum

A

anterior

226
Q

presence of ca central vascular catheter and receipt of parenteral nutrition are risk factors for

A

candidemia (Candida in the bloodstream)

Candida display a morphology of branching pseudohyphae with blastoconidia

227
Q

antigen attaches to ______________ on immunoglobin G1

A

Fab

228
Q

phagocytic cells attaches to ______________ on immunoglobin G1

A

Fc Receptor

229
Q

histology of cavernous hemangioma

A

carvernous, blood-filled vascular sapces of variable size lined by a single epithelial layer

biopsy not advisable since it can cause fatal hemorrhage
cavernous hemangioma= most common benign liver tumor

230
Q

effect of fibrates on gallbladder

A

reduce cholesterol solubility and promote gallstone formation by reducing bile acid synthesis

231
Q

effects of pernicious anemia with loss of parietal cell mass

A
  • decreased HCl secretion–> elevated intraluminal pH that leads to upregulation of gastrin secretion
  • decreased intrinsic factor secretion so develop vitamin B12 deficiency
232
Q

4 main classes of antifungal medications and their mechanism of action

A

1) polyenes (amphotericin B, nystatin): bind to ergosterol molecules in fungal cell membranes to create pores for cell lysis
2) triazoles (ketoconazole, fluconazole, etc): inhibit synthesis of ergosterol
3) echinocandins (caspofungin, micafungin): inhibit synthesis of glucan, a component of fungal cell wall
4) pyrimidines: flucytosine, only agent in this class, is converted to 5-fluorouracil within the cell and interferes with fungal RNA and protein synthesis

233
Q

____________ virus is a replication-defective RNA virus that is only capable of causing infection when encapsulated with HBsAg

A

Hepatitis D…aka delta agent or hepatitis delta virus

234
Q

intestinal atresias of the midgut (eg, jejunum, ileum, proximal colon) are the result of ____________ in utero

A

vascular occlusion

235
Q

clinical features of herpes simplex virus type 1 encephalitis

A

edema and hemorrhagic necrosis of the temporal lobe

headache, fever, mental status changes, cranial nerve deficits, seizures

236
Q

mechanism of action of isoniazid

A

antimicrobial agent active only against mycobacteria
inhibition of mycolic acid synthesis, so mycobacteria lose their acid-fastness and become unable to synthesize new cell walls or multiply

237
Q

in what gastric layers do parietal cells reside?

A

upper glandular layer

they secrete gastric acid and intrinsic factor

238
Q

laboratory/imagining studies findings of rheumatoid arthritis

A
  • positive rheumatoid factor and anti-cyclic citrullinated peptide (anti-CCP) antibodies
  • C-reactive protein and ESR correlate with disease activity
  • X-ray: soft tissue swelling, joint space narrowing, bony erosions
239
Q

Meckel’s diverticulum is a true diverticulum and consists all parts of the intestinal wall, which include:

A

mucosa, submucosa, and muscularis

false diverticula only have mucosa and submucosa

240
Q

what are maternal serum alpha-fetoprotein (MSAFP) screening used for?

A

identify pregnancies at high risk of congenital defects

  • open neural tube defects
  • ventral wall defects
  • multiple gestation
  • aneuploidies (when have decreased MSAFP, the others are increased MSAFP)
241
Q

features of mitochondrial myopathy

A

mitochondria not functioning properly so can’t make enough ATP–> myopathy, lactic acidosis, nervous system dysfunction

muscle biopsy shows ragged red fibers

inheritance: materal mitochondrial DNA

242
Q

Staphylococcus virulence mechanism by which it causes disease?

A

synthesis of an extracellular polysaccharide matrix that encases the bacteria. this biofilm acts as a barrier to antibiotic penetration

243
Q

mechanism of action for Class III antiarrhythmic drugs (eg, amiodarone, sotalol, dofetilide)

A

block potassium channels and inhigibt outward potassium currents during phase 3 of cardiac action potential –> prolong repolarization and total action potential duration

244
Q

___________ has been the leading cause of cancer mortality in both women and men in the United States since the 1980s

A

lung cancer

245
Q

how does the metyrapone stimulation test work? what is it testing for?

A

sensitive indicator of hypothalamic-pituitary-adrenal axis integrity

blocks cortisol synthesis by inhibiting 11-beta-hydroxylase so no negative feedback from cortisol on pituitary–> increase in ACTH

246
Q

what is primary and secondary hyperaldosteronism

A

primary: increased aldosterone, decreased renin- due to aldosterone-producing tumor or bilateral adrenal hyperplasia
secondary: increased both renin and aldosterone- due to renovascular hypertension, renin-secreting tumor, and edema

247
Q

clinical features of arginase deficiency

A
  • an enzyme in urea cycle that produces urea and ornithine
  • diagnosed based on elevated arginine levels
  • spastic diplegia (stiffness of lower extremities)
  • abnormal movments
  • growth delay
  • treat with low-protein diet devoid of arginine
248
Q

clinical features of Lesch-Nyhan syndrome

A

X-linked recessive

dystonia, choreoathetosis, self-mutilation, and hyperuricemia

249
Q

cause of Lesch-Nyhan syndrome

A

deficiency of hypoxanthine-guanine phosphoribosytransferase (HGPRT)- enzyme for purine salvage pathway
deficiency–> increased degradation of guanine and hypoxanthine bases into uric acid and increased demand for de novo purine synthesis

250
Q

individuals with Down syndrome have a 10- to 20-fold increased risk of developing ________ and __________ (cancer)

A

Acute lymphoblastic leukemia and acute myelogenous leukemia

251
Q

which part of the nephron do potassium sparing diuretics act on?

A

collecting duct

spironolactone and amiloride

252
Q

which part of the nephron do carbonic anhydrase act on

A

proximal tubule (acetazolamide)

253
Q

osmotic diuretics act on this part of the nephron

A

descending limb of Henle’s loop and proximal tubule (mannitol)

254
Q

loop diuretics act on this part of the nephron

A

thick ascending limb of Henle’s loop

furosemide

255
Q

thiazide diuretics act on which part of the nephron

A

distal convoluted tubules

hydrochlorothiazide

256
Q

Guillain-Barre syndrome can be caused by _______________ infection

A

Campylobacter jejuni

257
Q

what is hereditary angioedema?

A

inherited autosomal dominant condition that causes episodes of painless, non-pitting, well-circumscribed edema. If it affects the tracheobronchial tree, then cause respiratory obstruction

indicated by low serum levels of C1 esterase inhibitor

258
Q

lab findings of hereditary angioedema

A

low serum levels of C1 esterase inhibitor, increased level of active kallikrein and bradykinin

contraindicated for ACE inhibitors since ACE inhibitors can increase bradykinin even more

259
Q

how does lithium induce nephrogenic diabetes insipidus?

A

reduce ability of the kidney to concentrate urine primarily by antagonizing the action of vasopressin (antidiuretic hormone) i the collecting tubules and ducts

260
Q

what is X-linked agammoglobulinemia (XLA)?

A

mutation in the Bruton tyrosine kinase gene causes failure of bone marrow pre-B cells (CD19+, CD20+) to develop into mature, circulating B lymphocytes (CD19+, CD20+, CD21+)

have low or absent B cells in peripheral blood and pan-hypogammaglobulinemia ( low immunoglobulin)

261
Q

embryologic derivatives: mesoderm

A

muscles (skeletal, cardiac and smooth), connective tissue, bone, cartilage, serosa linings (eg peritoneum), cardio system, blood, lymphatic system, spleen, internal genitalia, kidney and ureters, adrenal cortex

262
Q

embryologic derivatives: endoderm

A

GI tract, liver, pancreas, lungs, thymus, parathyroids, thyroid follicular cells, middle ear, bladder and uretra

263
Q

embryologic derivatives: ectoderm- surface ectoderm

A

Rathke pouch (anterior pituitary, lengs and cornea, inter ear sensory organs, olfactory epithelium, nasal and oral epithelial linings, epidermis; salivary, sweat and mammary glands

264
Q

embryologic derivatives: ectoderm-neural tube

A

brain and spinal cord, posterior pituitary, pineal gland, retina

265
Q

embryologic derivatives: ectoderm- neural crest

A

autonomic, sensory and celiac ganglia; Schwann cells; pia and arachnoid mater; aorticopulmonary septum and endocardial cushions; branchial arches (bones and cartilage); skull bones, melanocytes; adrenal medualla

266
Q

risk of asbestos exposure

A

asbestosis, pleural plagues, bronchogenic carcinoma, and malignant mesothelioma

Bronchogenic carcinoma is the most common malignancy then mesothelioma

267
Q

clinical features of DiGeorge syndrome

A
  • conotruncal cardiact defects (tetrology of Fallot, truncus arteriosus, interrupted aortic arch)
  • abnormal facies
  • thymic hypoplasia/aplasia (T-cell deficiency)
  • craniofacial deformities (cleft palate)
  • hypocalcemia/hypoparathyroidism
268
Q

4 criteria of tetrology of Fallot

A

1) pulmonary infundibular stenosis (most important determinant for prognosis)
2) right ventricular hypertrophy
3) overriding aorta
4) ventricular septal defect

269
Q

graft-versus-host disease- cause

A

for those who are immunocompromised, immunocompetent donor T cells from the graft survive and migrate into host tissues–> recognize host MHC antigens as foreign and become sensitized

donor CD4+ and CD8+ T cells (not B cells) participate in host cell destruction\

GVDH occur after transplantation of organs rich in lymphocytes (eg, liver)

270
Q

carbonic anhydrase inhibitor diuretic- mechanism of action

A

block bicarb reabsorption so enhanced bicarb and water excretion–> increase urinary pH and potential metabolic acidosis

also used to help with intraocular pressures in open-angle and angle-closure glaucoma

271
Q

lesion of the _________________ can produce contralateral homonymous hemianopia with macular sparing

A

occipital cortex (eg, posterior cerebral artery occlusion)

272
Q

best an most reliable auscultatory indicator of the degree of mitral stenois is the __________ interval

A

A2-OS (A2-aortic valve closure) (opening snap due to abrupt tensing of the value leaflets as the mitral valve reaches its maximum diameter during forceful opening)

shorter interval= more severe stenosis
can also hear diastolic rumbling murmur with presystolic accentuation due to left-atrial contraction

273
Q

dengue hemorrhagic fever- symptoms

A

high-grade fever, diffuse macular rash, muscle and join pain, leukopenia, hrombocytopenia, elevated liver enzymes, headache, retro-orbital pain, bleeding

274
Q

primary vs secondary infection of Dengue virus

A

primary- can be asymptomatic or self-limited disease in most adults
secondary- infection with a different viral serotype and usually causes more severe illness

275
Q

O2 and CO2 content of arterial vs. venous blood during exercise

A

homeostatic mechanism maintain arterial O2 and CO2 contents and pH near normal resting values

venous blood O2 and CO2 and pH changes- O2 decreased and CO2 increased, pH decreased

276
Q

what is case-control stdy

A

selecting patients with particular diseases (cases) and without that disease (controls) and determining their previous exposure status

277
Q

cross-sectional study aka __________

A

prevalence study= simultaneous measurement of exposure and outcome

278
Q

surface marker of monocyte-macrophage cell lineage

A

CD14

279
Q

histology signs of secondary tuberculosis

A

caseating granulomas with central necrosis and Langhans giant cells

280
Q

posteromedial papillary muscle is supplied solely by the _______________ artery

A

posterior descending

281
Q

anteroateral papillary muscle has dual blood supply from the _______________ and ____________ arteries

A

left anterior descending (LAD) ; left circumflex

282
Q

clinical features of coarctation of the aorta

A

systolic hypertension of upper extremities along with characteristic diminished and /or delayed femoral pulses (brachial-femoral delay) (femoral

283
Q

clinical presentation of aortic regurgitation

A

increase in LV end-diastolic volume and wall stress, hypertrophy of LV, diastolic decresendo murmur at left sternal border in 3rd and 4th intercostal space, wide pulse pressure (bounding femoral and carotid pulses), head bobbing

284
Q

frothy, foamy urine may be caused by _____________ or __________ in the urine

A

proteinuria; bile salts

can lead to regional or generalized interstitial edema because the decrease in serum albumin and total protein lowers the plasma oncotic pressure and increases net plasma filtration in capillary beds (associated with nephrotic syndrome)

285
Q

_______________ is the only prokaryotic polymerase that also has 5’ to 3’ exonuclease activity

A

DNA polymerase I

functions to remove the RNA primer created by RNA primase to be replaced with DNA and repair damaged DNA sequences

286
Q

function of topoisomerase II aka DNA gyrase in prokaryotes

A

relieve tension created during DNA strand unwinding by adding or removing supercoils into the circular DNA

antibiotics that work by inhibiting DNA gyrase: fluoroquinolones

287
Q

what does DNA polymerase III do?

A

Prokaryotes only. Elongates leading strand
by adding deoxynucleotides to the 3′ end. Elongates lagging strand until it reaches primer of preceding fragment. 3′ –>5′ exonuclease activity “proofreads” each added nucleotide.
DNA polymerase III has 5′ 3′ synthesis and proofreads with 3′ 5′ exonuclease.

288
Q

What cell types are directly responsible for synthesizing fibrous cap of atheromas in atherosclerosis

A

vascular smooth muscle cells

289
Q

homeobox or hox gene code for ______________ that bind to regulatory regions on DNA, altering the expression of genes involved int eh segmental organization of the embryo

A

transcription factors

homeobox gene mutations–> abnormalities such as skeletal malformation and improperly positioned limbs and appendages

290
Q

locations to auscultate for holosystolic murmurs

1) mitral regurgitation
2) tricuspid regurgitation
3) ventricular septal defect

A

best heard at:

1) apex
2) left 2nd and 3rd intercostal spaces
3) left 3rd and 4th intercostal spaces

291
Q

S1 heart sounds

A

mitral and tricuspid valve closure. Loudest

at mitral area.

292
Q

S2 heart sounds

A

aortic and pulmonary valve closure.

Loudest at left upper sternal border.

293
Q

S3 heart sounds

A

in early diastole during rapid ventricular filling phase. Associated with increased filling pressures (eg, mitral regurgitation, HF) and more common in dilated ventricles (but can be normal in children and young adults).

294
Q

S4 heart sounds

A

in late diastole (“atrial kick”). Best heard at apex with patient in left lateral decubitus position. High atrial pressure. Associated with ventricular noncompliance (eg, hypertrophy). Left atrium must push against stiff LV wall. Consider abnormal, regardless of patient age.

295
Q

characteristics of Pseudomonas aeruginosa

A

motile gram-negative rod that is oxidase-positive, produces green pigment during culture (aerugula is green)

296
Q

“hot tub folliculitis” is due to _________________ infection of the hair follicles following exposure to a pool or spa not maintained appropriately

A

Pseudomonas aeruginosa

297
Q

first line agent to treat narcolepsy because it is effective, well tolerated, and drug abuse is rare (non-amphetamine stimulant)

A

Modafinil–enhance dopaminergic signaling

298
Q

why is COX 2 inhibitors preferred over COX1 inhibitors when deciding NSAIDs?

A

COX2 inhibitors have less risk of bleeding and gastrointestinal ulceration

299
Q

Function of type II pneumocytes

A

source of pulmonary surfactant and have the ability to proliferate in response to injury

act as progenitor cells for type I pneumocytes, which cannot regenerate on their own

300
Q

structure of MHC class I that present antigen to CD8+ cytotoxic T-cells

A

heavy chain and beta2-microglobulin

301
Q

structure of MHC class I that present antigen to CD4+ T-helper lymphocytes

A

alpha and beta polypeptide chains

302
Q

_________ is a cause of rapidly progressive (crescentic) glomerulonephritis type 3 (pauci-immune)

A

Granulomatosis with polyangiitis (Wegener’s)

303
Q

Granulomatosis with polyangiitis (Wegener’s): characteristic findings:

A

1) lowr respiratory tract- pulmonary symptoms (cough and/or hemoptysis)
2) involvement of the upper respiratory tract (i.e., ear , nose, sinuses, throat)
3) renal disease in the form of rapidly progressive (crescentic) glomerulonephritis

304
Q

embryonic development of the urachus

A

In the 3rd week the yolk sac forms the allantois, which extends into urogenital sinus. Allantois becomes the urachus, a duct between fetal bladder and umbilicus.

305
Q

patent urachus that connects the umbilicus and bladder to due to:

A

complete failure of obliteration of the urachus… aka persistence of allantois remnant

patients present with straw-colored urine discharge from the umbilicus

306
Q

what is Gerstmann syndrome?

A

neurologic disorder characterized by:

1) agraphia
2) acalculia (can’t carry out math problems)
3) finger gnosia (can’t identify individual fingers)
4) left-right disorientation

due to damage to the angular gyrus of the dominant parietal lobe

307
Q

Hemoglobin C is caused by a _____________ mutation that results in a ______________ residue being substituted by ______ in the beta globin chain

A

missense; glutamate; lysine

308
Q

most common eye-related complication of congenital cytomegalovirus infection

A

chorioretinitis

309
Q

earliest lesions of atherosclerosis and can be seen as early as the second decade of life

A

fatty streaks

appear as a collection of lipid-laden macrophages (foam cells) in the intima that can eventurally progress to atherosclerotic plaques

310
Q

personality disorder- schizoid

A

prefers to be a loner, detached, unemotional

cluster A- weird

311
Q

personality disorder-schizotypal

A

eccentric; odd thoughts, perceptions and behavior
=magical thinking

cluster A-weird

312
Q

personalitydisorder: histrionic

A

dramatic, superficial, attention-seeking, sexually provocative

cluster B-wild

313
Q

influenze epidemics and pandemics are typically caused by reassortment of the ____ segments coding for ________________ or __________ proteins (major antigenic shifts)

A

RNA; hemagglutinin; neuraminidase

314
Q

________ is a cause of acute, painless, monocular vision loss–> caused by thromboembolic complications of atherosclerosis from the _______________ artery and through the ______ artery

A

Retinal arter occlusion; internal carotid; ophthalmic

315
Q

blood flow is ______ proportional to the vessel radius raised to the _____ power

A

directly ; fourth

*resistance to blood flow is inversely proportional to the vessel radius raised to the fourth power

316
Q

test used for diagnosis of Cryptococcus neoformans meningoencephalitis in HIV (+) poatients

A

latex agglutination test detects the polysaccharide capsule antigen

india ink staining of theCSF shows round or oval budding yeast

317
Q

_________ is the major amino acid responsible for transferring nitrogen to the liver for disposal

A

alanine

318
Q

how does alanine and glutamine play a role in transporting nitrogen throughout the body

A

catabolism of proteins–> release of alanine and its amino groups transferred to alpha-ketoglutarate to form glutamate–> glutamate processed in liver to form urea to be disposed

319
Q

characteristics of amiodarone (how it works)

A 
-class III antiarrhythmic drug for management of a variety of supraventricular and ventricular arrhythmias
block K+ channels and inhibit outward K+ currents during phase 3 to prolong repolarization and total action potential duration
-QT prolongation
-very little risk of inducing torsades de pointes
320
Q

local cutaneous adverse effects of chronic topical corticosteroid administration

A

atrophy/thinning of the dermis that is associated with loss of dermal collagen, drying, cracking, and/or tightening of the skin, telangiectasias (spider veins), and ecchymoses (discoloration of skin resulting from bleeding underneath, typically caused by bruising)

321
Q

niacin as treatment of _______________

A

hyperlipidemia

  • increases HDL
  • decreases LDL and tryglycerides
  • causes cutaneous flushing mediated by prostaglandins
322
Q

ECG findings of atrial fibrillation

A

absence of P waves and irregularly irregular rhythm with varying R-R intervals

some have irregular, low-amplitude, fine fibrillatory waves (f waves) between QRS complexes for the chaotic atrial activation

323
Q

measure urinary concentration of _____________ can screen for early-stage diabetic nephropathy

A

albumin

324
Q

which diuretics are used to treat patients with heart failure exacerbation and significant fluid overload (eg, pulmonary and/or peripheral edema)?

WHY?

A

loop diuretics (IV)

most potent type of diuretics and provide maximum amount of diuresis in the shortest period of time

325
Q

when to use carbonic anhydrase inhibitors (acetazolamide)? and WHY?

A

weak diretics so used to treat glaucoma and acute mountain sickness

326
Q

mechanism of loop diuretics (furosemide, torsemide, bumetanide)

and where in the nephron?

A

inhibit Na-K-2Cl symporter in thick ascending limb of loop of Henle

blocks Na+ and Cl- reabsorption so increase excretion of Na+, Cl- and water

327
Q

can Enterococcus convert nitrates to nitrites

A

no- so would find negative result on urinalysis nitrite

328
Q

immfluorescent microscopy findings for Pauci-immune rapidly proliferative glomerulonephritis

A

no immunoglobulin or complement deposits on the basement membrane

329
Q

what is a key finding with Pauci-immune rapidly proliferative glomerulonephritis

A

antineutrophil cytoplasmic antibodies (ANCA) in their serum

condition associted with granulomatosis with polyangiitis (Wegener) or microscopic polyangiitis but can be idiopathic

330
Q

what stimulate eosinophils for parasitic defense?

A

IL-5 produced by TH2 and mast cells

331
Q

eosinophils, macrophages, neutrophils, and natural killer cells

mechanism of action

A

antibody-dependent cell-mediated cytotoxiity

332
Q

cause of stress incontinence (leakage with coughing, lifting, sneezing

A

decrease urethral sphincter tone and urethral hypermobility

333
Q

bladder emptying is mainly due to ______________, while continence is maintained by the _______________

A

detrusor muscle contraction; urethral sphincters

334
Q

what is overflow incontinence?

what is it caused by?

A

incomplete emptying and persistent involuntary dribbling

impaired detrusor contractility; bladder outlet obstruction

335
Q

relationship between H2PO4- and NH4+ with diabetic ketoacidosis

A

these two are acid buffers for the urine–> they take up H+ to get rid of H+ without lowering urinary pH

both increased with DKA

336
Q

characteristics of Fabry disease (not the symptoms)

A
  • X-linked recessive lipid storage disorder

* alpha-galactosidase A deficiency–>can’t break down globotriaosylceramide (Gb3), sphingolipid

337
Q

symptoms of Fabry

A
  • neuropathic pain and hypohidrosis (decreased sweating)
  • distal extremity pain and burning and distal loss of hot/cold temp sensation
  • worse with exercise, stress, and fatigue
  • angiokeratomas (dark red, non-blanching macules and papules around but, groin, and umbilicus)
  • telangietasias (spider veins)
  • cerebrovascular, cardiac, and glomerular complications
338
Q

principal site of uric acid precipitation and why

A

collecting ducts due to low urine pH

339
Q

how to differentiate between metabolic and respiratory alkalosis

A

pCO2
high–> metabolic
low–> respiratory

340
Q

features of thiazide or loop diuretic induced metabolic alkalosis

A
  • high arterial blood pH, HCO3-, pCO2, Na+
  • decrease K+ and H+ and Cl-
  • can be correct by volume and NaCL repletion with isotonic saline (saline-responsive)
341
Q

features of mineralocorticoid excess state induced metabolic alkalosis

A
  • increase Na+, HCO3-, CL-
  • decrease K+ and H+
  • cannot be corrected by isotonic saline due to persistent mineralocorticoid activity (saline-unresponsive)
342
Q

electrolyte abnormalities associated with loop diuretic

A

hypokalemia, metabolic alkalosis, hypocalcemia
(in serum)

(thick ascending limb of loop of Henle)

343
Q

electrolyte abnormalities associated with thiazide diuretics

A 
hyponatremia
hypokalemia
metabolic alkalosis
hypercalcemia 
(in serum)

(distal convoluted tubule)

344
Q

electrolyte abnormalities associated with carbonic anhydrase

A

hypokalemia
metabolic acidosis
(in serum)

(proximal tubule)

345
Q

electrolyte abnormalities associated wtih sodium channel blockers and mineralocorticoid receptor antagonists (diuretics)

A

hyperkalemia
metabolic acidosis
(in serum)

(cortical collecting duct; cortical collecting tubules)

346
Q

diuretics used to help decrease risk for calcium kidney stone

A

thiazides–> decrease urine Ca2+ excretion

347
Q

loop diuretics stimulate _____________ release to increase renal blood flow to increase GFR

A

prostaglandin

348
Q

what glomerular disease has glomerular basement membrane disruptions and fibrin deposition on electron microscopy

A

Goodpasture

GBM breaks are due to fibrinoid necrosis of the glomeruli

crescent formation contributed by fibrin escape into Bowman’s space

349
Q

blood supply to the proximal ureter comes from branches of the _______ artery; distal ureter is supplied by ____________

A

renal artery; superior vesical artery

350
Q

highest osmolarity occurs at the ________________ of the nephron

A

loop of Henle

351
Q

severe toxicities of aggressive osmotic diuretics such as mannitol

A

pulmonary edema and dehydration

352
Q

increased Ca2+ will _______ PTH, but decreased Ca2+ will _______________ PTH

A

suppress; increase

353
Q

relationship between chronic kidney disease and serum calcium level

A

chronic kidney dz–> hyperphosphatemia (binds serum Ca2+) and low 1,25-dihydroxyvitamin D (decrease intestinal Ca2+ absorption and Ca2+ release from bone)–> hypocalcemia–> increase PTH–> secondary hyperparathyroidism

354
Q

low oncotic pressure in nephrotic syndrome such as minimal change disease can lead to

A

increased lipoprotein production in the liver

355
Q

what would you see with the electron microscopy for diabetic nephropathy?

A

hyaline, acellular deposits composed of plasma proteins, can be seen in Kimmelstiel Wilson nodules

356
Q

every time GFR ________, creatinine levels ________

A

halves; doubles

357
Q

RPF is calculated using the clearance of __________________

A

para-aminohippuric acid (PAH)

RPF= PAH clearance= (urine [PAH] X urine flow rate/ plasma [PAH]

RBF=(PAH clearance)/ (1-hematocrit)

358
Q

what type of renal complications happen in multiple myeloma

A

myeloma case nephropathy due to excess excretion of free light chains (Bence Jones proteins)–> form cases that cause tubular obstructiona nd epithelial injury (glassy casts stain intensely eosinophilic)

359
Q

suspect multiple myeloma when an elderly patient present with these 5 things

A

1) fatigability (due to anemia)
2) constipation (due to hypercalcemia)
3) bone pain, most commonly in the back and ribs (bone lysis due to production of osteoclast-activating factor by myeloma cells)
4) elevated serum protein (monoclonal proteins)
5) renal failure

think CRAB

360
Q

during the recovery phase (polyuric phase) of acute tubular necrosis, patients can become dehydrated and can develop severe_____________

A

hypokalemia

-due to high volume, hypotonic urine

361
Q

common side-effects of ACE-inhibitors

A

decreased GFR, hyperkalemia, and cough

angioedema=rate, but life-threatening

362
Q

ureters pass ______________ to the ovarian (gonadal) vessels with the retropreritoneum and ______ to the common/external iliac arteries to reach the true pelvis

A

posterior (water under the bride)

anterior

363
Q

equation for net filtration pressure

A

=(hydrostatic pressure in capillaries- hydrostatic presure in interstitium) - (oncotic pressure of capillaries- oncotic pressure of interstitium)

364
Q

characteristics of Foscarnet (antiviral agent)

A

an analog of pyrophosphate that can chelate calcium and promote nephrotoxic renal magnesium wasting

hypocalcemia and hypomagnesemia–> seizure

365
Q

most common and second most common places for metastasis of advanced stage renal cell carcinoma

A

lung and bone

366
Q

significant renal hypoperfusion–> hyperplasia of __________ cells

A

JG cells of the afferent arteriole (modified smooth muscle cells with renin-containing zymogen granules)

367
Q

humoral hypercalcemia of malignancy is caused by secretion of ________________

A

parathyroid hormone-related protein (PTHrP)

–>increased bone resorption and decreased renal excretion of calcium

368
Q

grapefruit juice______________ CYP450 3A

A

inhibit–> increase nephrotoxicity of durgs

369
Q

diabetic autonomic neuropathy can cause __________ incontinence

A

overflow–> due to inability to sense a full bladder and incomplete emptying

370
Q

Beta blockers’s mechanism of action on the RAA system

A
  • decrease RBF
  • sympathetic stimulation
  • prevent increase of renin to decrease BP
371
Q

does beta blockers affect bradykinin levels?

A

no- since they don’t have an effect on ACE activity

372
Q

host T-lymphocyte sensitization against graft (foreign) MHC antigens mediates ____________ rejection

A

acute cellular transplant rejection

373
Q

treatment for acute transplant rejection

A
  • calcineurin inhibitors such as cyclosporin or tacrolimus

* corticosteroids

374
Q

para-aminohippuric acid has the lowest concentration in the ____________

A

Bowman’s space
(not reabsorbed by any portion of the nephron)

highest in proximal tubules due to its active secretionandreabsorptionof waterand solutes

375
Q

metanephric diverticulum (ureteric bud) of the kidney give rise to

A

collecting system of the kidney: such as the collecting tubules and ducts, major and minor calyces, renal pelvis, and the ureters

376
Q

metanephric mesoderm (blastema) of the kidney gives rise to

A

glomeruli, Bowman’s space, proximal tubules, loop of Henle, and distal convoluted tubules

377
Q

recovery phase of acute tubular necrosis

A

re-epithelization of tubules

378
Q

presentation of renal artery stenosis

A

unilateral kidney atrophy, elderlys due to atherosclerotic changes, women of childbearing age due to fibromuscular dysplaia

have hypertension and abdominal bruit

379
Q

transitional cell carcinoma of bladder (risk factors)

A

smokers, individuals with occupational exposure to rubber, plastics, aromatic amine-containing dyes, textiles, or leather, men> women

380
Q

biochemical risk factors for ____________________ include: low urinary pH and low urine volume with high uric acid concentration, which may occur i setting of chronic diarrhea

A

uric acid nephrolithiasis (kidney stones)

*diarrhea–>metabolic acidosis–> kidnesy compensate with excreting more H+ and reabsorbing more bicarb–> insoluble uric acid

381
Q

acute tubular necrosis- histology characteristics

A

proximal tubular cell ballooning and vacuolar degeneration

382
Q

presence of oxalate crystals in tubular lumen is highly suggestive of _______________

A

ethylene glycol poisoning—> lead to calcium oxalate crystals

383
Q

second most common cause of UTI in sexually active women is

A

Staphylococcus saprophyticus

384
Q

characteristic of IgA nephropathy (Berger disease)

A

*most common cause of glomerulonephritis
* older children and young adults
painless hematuria within 5-7 days of upper respiratory tract infection

385
Q

characteristics of clear cell carcinoma in histology

A

rounded/polygonal cells with abundant clear cytoplasm (in proximal tubules)

  • contain lots of inracellular glycogen and lipids
  • from the proximal tubular epithelial cells

most common form of clear cell carcinoma= renal cell carcinoma

386
Q

hemolytic uremic syndrome- characterized by a triad of:

A

microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury

387
Q

NSAID-associated chronic renal injury is morphologically characterized by

A

chronic interstitial nephritis papillary necrosis

388
Q

cystinuria- genetics and cause

A

autosomal recessive

defective transportation of dibasic amino acids (cystine, ornithine, arginine, and lysine) across intestinal and renal tubular epithelium

–> cystine crystals (hexagonal-shaped)

389
Q

which diuretics can cause ototoxicity

A

loop diuretics

inhibiting Na/K/2Cl symporters in ascending limb of the loop of Henle–> may inhibit similar symporters in the inner ear

390
Q

poor prognostic factor for post-streptococcal glomerulonephritis

A

increased age, pre-existing kidney disease

for children 5-12yo–> >95% recover

391
Q

drug induced acute interstitial nephritis- symptoms and signs

A

fever, maculopapular rash, and symptoms of acute renal failure 1-3 weeks after beginning a beta-lactam antibiotic, peripheral eosinophilia and eosinophiluria

symptoms go away afte cessation of medication

392
Q

clearance of digoxin

A

by the kidney

digoxin=cardiac glycoside

393
Q

digoxin- mechanism of action

A

cardiac glycoside

Direct inhibition of Na+/K+ ATPase –> indirect inhibition of Na+/Ca2+ exchanger. increase [Ca2+]i –> positive inotropy. Stimulates vagus nerve –> decreased HR.

394
Q

idiopathic membranous nephropathy is associated with circulating ___ antibodies to the _______________ receptor

A

IgG4; phospholipase A2

395
Q

endometrial cells undergo ______________ to have menstrual bleeding

A

apoptosis

396
Q

pelvic floor strengthening (Kegel exercises) targets the _____________ (muscle) to improve support around the urethra and bladder (helps with stress urinary incontinence)

A

levator ani

397
Q

human chorionic gonadotropic (hCG) is structurally similar to _____

A

LH

therefore simulates LH surge by inducing ovulation

LH and hCG has similar alpha subunit (structurally similar)

398
Q

live mass associated with an increased alpha-fetoprotein level is typical presentation of

A

hepatocellular carcinoma

-hepatocellular carcinoma is strongly associated with HBV infection and is often precded by HBV-induced cirrhosis

399
Q

breast carcinoma: malignant infiltration of ____________ of the breast causes dimpling of the overlying skin

A

suspensory ligaments

400
Q

what structure is the most vulnerable to injury during a hysterectomy?

A

ureter

401
Q

protective factors against epithelial ovarian cancer

A

oral contraceptives, multiparity, and breastfeeding since they decrease the frequency of ovulation

risk factors: BRCA mutation, nulliparity, and infertility

402
Q

histology of metastatic tumor cells of the ovary from Krukenberg tumor from the stomach

A

have large amounts of mucin with apically displaced nuclei–> signet ring appearance

403
Q

characteristic of ductal carcinoma in situ

A

breast cancer
ducts distended by pleomorphic cells with prominent central necrosis that do not penetrate the basement membrane

  • precursor to invasive ductal carcinoma, most common type of breast cancer
  • can also lead to Paget disease
404
Q

mechanism of action for misoprostaol- for terminating pregnancy

A

misoprostol- prostaglandin E1 agonist==> cervical softening and uterine contractions to expel pregnancy

405
Q

mechanism of action for mifepristone-> terminate pregnancy

A

progesterone antagonist and glucocorticoid antagonist

406
Q

mechanism of action of methotrexate

A

folic acid antagonist–> decrease DNA synthesis

help with abortion, cancer, rheumatoid arthritis, psoriasis , IBD, vasculitis

407
Q

characteristic of turner syndrome

A

narrow, high-arched palate; low hairline; webbed neck’ widely spaced nipples; cubitus valgus; aortic coarctation; bicuspid aortic valve; horseshoe kidney; streak ovaries; amenorrhea; infertility; short stature

408
Q

in females, ______________________ fuse to form the fallopian tubes, uterus, cervix, and upper vagina

A

paramesonephric ducts

*incomplete lateral fusion of the ducts–> bicornuate uterus (indentation in the center of the fundus)

409
Q

detection of ____ and ____ is used for prenatal screening of neural tube defects

A

alpha-fetoprotein (AFT); acetylcholinesterase

410
Q

selegiline-mechaism of action

A

inhibitor of MAO, type B (inhibit breakdown of dopamine)

clinically used to delay progression of Parkinson disease

411
Q

drug of choice for treating trigeminal neuralgia (pain in the distribution of CN V)

A

carbamazepine

  • make sure to check CBC for aplastic anemia
  • a P450 inducer
412
Q

three important mitochondiral syndromes

A

1) leber hereditary optic neuropathy–> bilateral vision loss
2) myoclonic epilepsy with ragged-red fibers: myoclonic seizures and myopathy with exercise
3) mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)

413
Q

mitochondiral diseases affect males and females with _____ frequencey

A

equal (100%)

heteroplasmy

414
Q

demyelination of 1 optic nerve: pupillary reflex?

A

if light on the side affected: no constriction of either eye. Constriction when light is on the side that is not affected

415
Q

amino acid precursor for serotonin

A

tryptophan

416
Q

amino acid precursor for thyroxine, dopamine, epinephrine, norephinephrine, and melanin

A

tyrosine

417
Q

treatment or serotonin syndrome

A

cyproheptadine (serotonin receptor antagonist)

418
Q

most common finding with posterior cerebral artery stroke

A

contralateral homonymous hemaniopsia, often with macular sparing

419
Q

symptoms of temporal lobe lesion

A
  • disrupt Meyer’s loop and produce contralateral superior quadrantanopia
  • aphasia, memory deficits, seizures, and hallucinations
420
Q

what cause syringomyelia

A

central cystic dilation in cervical spinal cord (syrinx) that enlarges and damage ventral white commissure and anterior horns

421
Q

symptoms of syringomyelia

A

bilateral loss of pain and temp sensation

loss of UE pain and temp, UE weakness and hyporeflexia, LE weakness and hyperreflexia and kyphoscoliosis

422
Q

facial effect of parotid gland tumor

A

tumor can compress and disrupt ipsilateral facial nerve and branches –> facial droop

423
Q

blood discharge from nipples commonly caused by

A

intraductal papilloma

  • due to proliferation of papillary cells in a duct or cyst wall with fibrovascular core and may contain foci of atypia or ductal carinoma in situ
  • blood from twisting of the vascular stalk of the papilloma in the duct
424
Q

what part of the body gets cut in a midline episiotomy

A

perineal body (fibromuscular tissue between urogenital and anal triangle)

425
Q

epithelia type of ovary

A

simple cuboidal

-rapidly proliferate to repair ovulatory surface defects

426
Q

insulin resistance during pregnancy is due to this hormone

A

human placental lactogen (hPL) (pepetide hormone secreted by syncytiotrophoblast)

427
Q

cause of turner syndrome

A

45, X karyotype due to loss of paternal chromosome X

428
Q

hypospadia

A

abnormal opening of penile urethra on ventral surface of penis due to failure of the urethral folds to fuse

(urethral folds in females don’t fuse and form the labia minora)

429
Q

clinical features of polycystic ovary syndrome

A
  • androgen excess–> hirsutism, acne, androgenic alopecia
  • ovarian dysfunction: menstrual irregularity, polycystic ovaries
  • insulin resistance
  • obesity
  • elevated LH
430
Q

treatment for polycystic ovary syndrome

A
  • weight loss
  • combination of hormonal contraceptives
  • metformin (for hyperglycemia/diabetes)
431
Q

mechanism of action of clomiphene

A

antagonist of estrogen receptors in hypothalamus –> prevents negative feedback inhibition on the hypothalamus and pituitary by circulating estrogen–> increased FSH and LH–> ovulation

(help people with PCOS get pregnant)

432
Q

cause of ovarian torsion

A

twisting of the infundibulopelvic ligament due to weight of a large adnexal mass

433
Q

why use both chloroquine and primaquine for treating malaria?

A

chloroquine- treatment of choice fo uncomplicated malaria

primaquine` added with infection with P vivax and P ovale to eradicate the intrahepatic stages , which are responsible for relapses of malari

434
Q

what cause congenital torticollis

A

malposition of the head in utero or birth trauma

child prefers to hold the head tilted to one side

revolve with conservative therapy and stretching

435
Q

what is a complete mole pregnancy?

A

when an empty ovum is fertilized by a haploid sperm. The chromosomes from the sperm duplicate to form 46, XX that only has paternal DNA

436
Q

what is endometriosis

A

aka ectopic endometrium

  • presence of endometrial tissue outside the uterus
  • inflammation after menstruation–> distorts organ structure and function–> infertility
437
Q

risk factors of endometriosis

A

nulliparity, early menarche, and prolonged menses

438
Q

bilateral ligation of ___________ artery can decrease uterine blood flow and control postpartum hemorrhage

A

internal iliac

439
Q

dysmorphic features of Down syndrome

A

epicanthal folds, upslanting palpebral fissures, protruding tongue, excessive skin at the nape of the neck, birthweight and length often below average, hypotonia and weak startle (Moro) reflex

*cardiac defects

440
Q

_________ due to hypogonadotrophic hypogonadism can be treated by pulsatile administration of GnRH

A

Anovulation (to treat infertility)

441
Q

most likely location of the urethra to be associated with pelvic fractures

A

posterior urethra at the bulbomembranous junction

442
Q

_______ is needed for normal renal deveopment

A

Angiotensin II

*so moms can’t take ACE inhibitor during pregnancy–> oligohydraminos and potter sequence

443
Q

what hormone is elevated in menopausal women?

A

FSH

*due to lack of inhibition from estrogen

444
Q

what is neonatal abstinence syndrome (NAS)?

symptoms?

A

NAS= newborns with mothers who used drug such as opiate during pregancy

crying, tremors, hypertonia, jittery movments, sweating, pupillary dilation, tachypnea, sneezing, irritability, and diarrhea

445
Q

neuroimagining of a patient iwth herpes simplex virus (HSV) encephalitis

A

abnormal MRI signal in the bilateral temporal lobes

446
Q

lymphatic drainage of scrotum occurs via the_________________ lumph nodes

A

superficial inguinal

*drain nearly all cutaneous lymph from umbilicus to the feet, including external genitalia and anus

447
Q

lymphatic drainage of the testes, ovaries, kidneys, and uterus drains directly into the __________ lymph nodes

A

para-aortic (retroperitoneal)

448
Q

what produces beta-hCG and when?

A

syncytiotrophoblast secrete it 6-7 days after fertilization

  • can be detected in maternal serum about 8 days after fertilization
  • can be detected in urine 14 days after fertilization
449
Q

how come rotavirus can have reassortment (genetic shift)?

A

because they have segmented genomes capable of genetic shifts through reassortment

450
Q

most common subtype of germ cell tumor

A

teratomas= have hair follicles, skin, teeth, bones, and other tissues if mature (cell lines of > 1 germ layer)

451
Q

what is primary ciliary dyskinesia (PCD)

A

autosomal recessive
*disfunction of flagella and cilia

  • ->situs inversus (reversed right and Left organs)
  • -> bronchiectasis (permanent airway enlargement)
  • -> infertility
  • ->chronic sinusitis
452
Q

gestational choriocarcinoma

A

malignant tumor from trophoblast

  • hematogenous spread
  • lungs= most common site of metastasis
  • abnormal proliferation of mononuclear cytotrophoblasts and multinuclear syncytiotrophoblasts
  • no villi
453
Q

clinical finding of gestational choriocarcinoma

A
  • preceded by pregnancy
  • causes abnormal vaginal bleeding, uterine enlargement, and increased beta-hCG
  • metastasis to lung
454
Q

second-trimester quad screen test results for Down syndrome

A

low maternal serum alpha-fetoprotein and unconjugated estriol

high beta-hCG and inhibin A

455
Q

which cell type produce anti-Mullerian hormone

A

sertoli cells

456
Q

which cell type stimulates Wolffian ducts to develop into internal male reproductive organs?

A

Leydig cells–secrete testosterone

457
Q

what is an imperforate hymen

A

obstructive lesion caused by incomplete degeneration of the central portion of the fibrous tissue band connecting the walls of the vagina

*present with primary amenorrhea with cyclic ab pain due to accumulation of menstrual blood in vagina and uterus

458
Q

histological findings of fibroadenoma

A

(most common benign tumor of breast)

cellular or myxoid stroma that encircles and sometimes compresses epithelium-lined glandular and cystic spaces

459
Q

methylmalonic acidemia: what is it? and lab findings?

A

organic acidemia due to complete or partial deficiency of methylmalonyl-CoA mutase.

hyperammonemia, ketotic hypoglycemia, and metabolic acidosis, elevated urine methylmalonic acid and propionic acid

460
Q

what is cerebral amyloid angiopathy?

A

beta-amyloid deposition in the walls of cerebral arteries –> vessel wall weakening –>rupture

*common cause of spontaneous lobar hemorrhage (recurrent; involves the occipital and parietal lobes)

461
Q

mechanism of action of tricyclic antidepressants (TCAs)

A

inhibit reuptake of NE and 5-HT

inhibit fast Na+ channel conduction, slowing down myocardial depolarization –> cardiac arrhythmias and refractory hypotension (common causes of death in overdose)

462
Q

cerebellar hemispheres are responsible for motor planning and coordination of the _______ extremities

A

ipsilateral

463
Q

hyperactivity of the ______ pathway is associated with positive symptoms of schizophrenia, whereas low activity of the ________ pathway is associated with negative symtoms

A

mesolimbic; mesocortical

464
Q

thymoma is associated with __________

A

myasthenia gravis

*benign neoplasm of thymus

465
Q

anesthetics with higher blood solubility have ______ blood/gas partition coefficients

A

larger

larger partition coefficients/ higher solubility–> needs larger amounts to be absorbed before the blood becomes saturated so slower onset of action

466
Q

function of the glossopharyngeal never

A

gag reflex; general sensation of the upper pharynx, posterior tongue, tonsils, and middle ear cavity; loss of taste sensation on the posterior third of the tongue

467
Q

how can buprenorphine precipitate withdrawal in opioid-tolerant patients?

A
  • it’s a partial opioid agonist that has low intrinsic activity (efficacy) for opioid mu-receptors
  • binds w/ high affinity (potency)and prevent binding of other opioid medications (act as opioid receptor antagonist)
468
Q

phrenic nerve irritation cause

A

dyspnea, hiccups (diaphragmatic irritation), and referred pain tot he shoulder (area innervated by supraclavicular nerve originating from C3 and C4

469
Q

“red ragged” muscle fibers are seen in _____________ myopathies

A

mitochondrial

have this appearance because abnormal mitochondria accumulate under the sarcolemma

470
Q

Klinefelter syndrome

A

47, XXY or more X

tall stature; small, firm testes; azoospermia; gynecomastia; mild intellectual disability

471
Q

Marfan syndrome-caused by

A

inherited defect of the extracellular matrix protein fibrillin

472
Q

marfan syndrome- clinical findings

A

tall with long extremities; pectus carinatum or pectus excavatum; hypermobile joints; long, tapering fingers and toes (arachnodactyly); cystic medial necrosis of aorta; aortic incompetence and dissecting aortic aneurysms; floppy mitral valve. dislocation of lenses, typically upward and temporally

473
Q

pregnant mom with rubella infection–>

A

women with polyarthritis and poly arthralgia

infant with sensorineural deafness, cataracts, and cardiac malformations (PDA)

474
Q

mechanism of action of flutamide

A

nonsteroid agent that acts as competitive testosterone receptor inhibitor

475
Q

PCOS is associated with

A
  • oligomenorrhea, hirsutism, and polycystic ovaries

* increased risk for endometrial hyperplasia/carcinoma and type 2 diabetes

476
Q

Risk factors for cervical cncer

A

*infection w/ high-risk HPV strains (16, 18) (strongest risk)
*history of STD
*early onset of sexual activity
multiple or high-risk sexual partners
*immunosuppression
*oral contraceptive use
*low SES
*tabacco use

477
Q

granulosa cell tumors

A

sex-cord stromal tumors of the ovary that secrete estrogen and can cause endometrial hyperplasia

478
Q

inhibin

A

secreted by sertoli cells to inhibit FSH–> stop sertoli cells from making sperm

479
Q

LH

A

produce testosterone/ estrogen

480
Q

somatic vs germline mosaicism

A

somatic: affects cells forming the body, cause disease manifestations to develop in affected individuals (milder form of turner syndrome)
germline: affect cells that give rise to gametes so affect the offspring

481
Q

prostatectomy or injury to the prostatic plexus can cause

A

erectile dysfunction

482
Q

estrogen stimulates upregulation of ______________________ between individual myometrial smooth muscle cells

A

gap junctions

gap junctions consist of aggregated connexin proteins

483
Q

what is primary amenorrhea

A

absence of menses by age 145 in someone who has normal growth and secondary sexual characteristics

or

absence of menses by age 13 in girls without secondary sex characteristics

484
Q

cystic fibrosis-clinical findings

A

recurrent pneumonia, digital clubbing, azoospermia (due to absence of vas deferens), nasal polyps, pancreatic insufficiency

485
Q

incomplete obliteration of the processus vaginalis leads to ______ and_____

A

communicating hydrocele (fluid in scrotum); indirect inguinal hernia

486
Q

gonadal arteries on both sides arises form the

A

abdominal aorta

*only the left gonadal vein and left suprarenal vein comes from the renal vein

487
Q

gonadal arteries on both sides arises form the

A

abdominal aorta

*only the left gonadal vein and left suprarenal vein comes from the renal vein

488
Q

FSH roles in females

A

stimulates ovary to recruit 1 primary follicle on the onset of menstruation (day 1)

stimulates granulosa cells inside the follicle to produce estrogen

489
Q

_______ (hormone) increases the most in concentration after ovulation

A

progesterone—> to sustain the corpus luteum

490
Q

cancers of the pelvis, including prostate, spread to lumbosacral spine via ______

A

vertebral venous plexus (communicates with lots of venous networks like prostatic venous plexus)

491
Q

placenta accreta

A

a placenta that is morbidly adherent to the myometrium

scar from prior surgery lead to absent decidual layer so placenta can have direct myometrial attachment by the villous tissue

492
Q

epithelial ovarian cancer- increased levels of _________

A

cancer antigen 125 (CA-125)

most common subtype of ovarian cancer (out of epithelial, germ cell, and sex cord stroma)

493
Q

what is synaptophysin

A

transmembrane glycoprotein found in the presynaptic vesicles of neurons, neuroectodermal and neuroendocrine cells

494
Q

neoplasms of glial origin (astrocytomas, ependymomas, and oligodendrogliomas)

A

glial fibrillary acidic protein (GFAP)

495
Q

meningiomas

A

benign tumor cells of the arachnoid villi

496
Q

neurofibromatosis type 1

A

autosomal dominant

*cafe-au-lait spots, neurofibromas (lumps all over body), lisch nodules (pigmented, asymptomatic hamartomas of the iris), pseudoarthorsis, scoliosis, other associated tumors (meningiomas, astrocytomas, gliomas, pheochromocytomas)

497
Q

thiamine (vitamin B1) is a cofactor for:

A

1) pyruvate dehydrogenase to convert pyruvate into acetyl-CoA
2) alpha-ketoglutarate dehydrogenase, an enzyme of the citric acid cycle
3) branched-chain alpha-ketoacid dehydrogenase to break down BCAA
4) transketolase- enzyme of pentase phosphate pathway that helps convert ribulose 5-P to glycolysis intermediates

498
Q

thiamine deficiency leads to decreased ______ utilization

A

glucose

499
Q

mechanism of action for beta-blockers

A

inhibiting the neurotransmitter-receptor interaction in adrenergic synapses

500
Q

naltrexone mechanism of action

A

blocks the mu-opioid receptor

blocks the rewarding and reinforcing effects of alcohol

501
Q

restless leg syndrome

A

uncomfortable urge to move the legs with :

  • unpleasant sensations in the legs
  • onset with inactivity or at night
  • relief with movement

treat with dopamine agonist

502
Q

what hormones are stimulant medication using to treat ADHD?

A

they increase availability of norepinephrine and dopamine in prefrontal cortex

503
Q

standard deviation–> % of data/ confidence interval

A

SD 1/2/3–> 68/95/99%

504
Q

neurological syndrome associated with B12 deficiency occurs due to abnormal myelin synthesis–> degeneration of these

A

1) doral columns
2) lateral corticospinal tracts–> upper motor neuron signs
3) axonal degeneration of peripheral nerves–> numbness or paresthesias

505
Q

symptoms of Von Hippel-Lindau disease

A

capillary hemangioblastomas in retina and/or cerebellum, congenital cysts and/or neoplasms in the kidney, liver, and pancreas

increased risk for renal cell carcinoma (bilateral)

rare, autosomal dominant

506
Q

initial drug of choice for status epilepticus

A

IV benzodiazepines–> work by enhancing effect of GABA at GABA-A receptor, leading to increased chloride influx and suppression of action potential firing

507
Q

lateral medullary (Wallenberg) syndrome

A

caused by posterior inferior cerebellar artery occlusion

vertigo/nystagmus, ipsilateral cerebellar signs, loss of pain/temperature sensation in the ipsilateral face and contralateral body, bulbar weakness, and ipsilateral Horner syndrome

508
Q

nigrostriatal degeneration in Parkinson –> excessive excitations of the _________________________ by the _________–> excessive inhibition of the_________

A

globus pallidus internus; subthalamic nucleus; thalamus

509
Q

Cystic fibrosis- has mutation in FTR gene–> what is the most common kind of CFTR gene mutation

A

3-base pair deletion of phenylalanine at aa position 508.

mutation–> impaired post-translational processing (improper folding and glycosylation ) of CFTR

510
Q

rubber-like properties of elastin are due to ________ between elastin monmers, which is facilitated by _____________

A

cross-linking; lysyl oxidase

511
Q

medication to help patients with cessation of tobacco by reducing withdrawal cravings and attenuating the rewarding effects of nicotine

A

varenicline= partial agonist of nicotinic acetylcholine receptors

512
Q

mechanism of action for combined hormonal contraceptives

A

supress GnRH in the hypothalamus–> decrease gonadotropins FSH and LH in the anterior pituitary–> prevent the LH spike needed for ovulation

513
Q

turner syndrome is due to what mutation

A

meiotic nondisjunction during gametogenesis

*loss of one X chromosone

514
Q

meconium ileus-what is it and what disorder is it associated to?

A

distal small bowel (ileum) obstruction due to abnormally dehydrated meconium in a patient with cystic fibrosis (CF)

515
Q

Ebstein’s anomaly- characteristics and what causes it?

A

apical displacement of the tricuspid valve leaflets, decreased volume of the right ventricle, and atrialization of the right ventricle

caused by exposure to lithium for treating bipolar disorder

516
Q

primary oocytes are arrested in ______ of meiosis ___ until ovulation

A

prophase; I

517
Q

secondary oocytes are arrested in ______ of meiosis ____ prior to fertilization

A

metaphase; II

518
Q

valproate is teratogenic and causes _____

A

neural tube defects

valproate decreases folic acid level

UWorld Journal (18 decks)

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