April 18 Flashcards

1
Q

Paget’s disease is associated with development of what malignancy?

A

Osteosarcoma

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2
Q

What is globus sensation?

A

Feeling of lump in throat without accompanying physical, endoscopic or radiographic findings of esophageal obstruction

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3
Q

Synovial fluid analysis of pt with gout will show what?

A

Numerous neutrophils with slender, needle shaped, and negatively birefringent monosodium urate crystals

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4
Q

What is a sensitive indicator of apoptosis?

A

DNA laddering–fragments in multiples of 180bp
–Karyorrhexis—fragmentation caused by endonuclease cleaving at internucleosomal regions

Malignancies can develop by evading apoptosi-BCL2 mutation–evades intrinsic (mitochondrial) pathway of apoptosis

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5
Q

What type of mutation should be consider when a genetic mutation is present in offspring but not in the parents?

A

Germline (gondal) mosaicism –mutation only in egg or sperm cells

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6
Q

Look for ______ in cytoplasm when pt has leukemia.

A

Auer rods–Acute myelogenous leukemia t(15;17)

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7
Q

What cytokine is exclusively produced by T lymphocytes and what is its function?

A

IL-2–stimulates the growth and differentiation of T cells, B cells NK cells, macrophages

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8
Q

Umbilicated, flesh colored papules on the skin and mucous membranes with cytoplasmic inclusion bodies seen on microscopy?

A

Molluscum contagiosum–Molluscum bodies

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9
Q

Injury to what structure is most likely with anterior or posterior knee dislocation?

A

Popliteal artery

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10
Q

Pt comes to clinic 5 days postpartum with fever, leukocytosis, uterine tenderness and foul-smelling vaginal discharge. What is the most likely cause of this pts symptoms?

A

Postpartum endometritis–due to cesarean delivery

–Infection of the uterus

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11
Q

What does secretin cause within the exocrine pancreas?

A

Increased secretion of HCO3- and decreased secretion of Cl-

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12
Q

What enzyme is affected in acute intermittent porphyria and what step in him synthesis does this involve?

A

Prophobilinogen deaminse

Prophobilingoen—> Hydroxymethylbilane

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13
Q

CHF is a common cause of transudative pleural effusion. What is seen with respect to protein and lactate dehydrogenase levels?

A

Decreased protein and LDH

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14
Q

If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops?

A

Loss of heterozygosity

Retinoblastoma and the “two-hit hypothesis”
Lynch syndrome (HNPCC)
Li-Fraumeni syndrome

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15
Q

Male genotype and a female phenotype with external female genitalia and a vagina ending in a blind pouch with high testosterone and LH levels and normal FSH levels–characteristic of what disease?

A

Complete androgen insensitivity 46 XY karyotype

Mullerian agenesis–46 XX with missing uterus and upper vagina but normal hormone levels

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16
Q

Premature infants are at increased risk of intraventricular hemorrhage due to what?

A

Germinal matrix fragility

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17
Q

Vast majority of cancers in the head and neck are ?

A

SCC

Ventral tongue, Floor of the mouth, Lower lip, Soft palate, gingiva –infiltrate adjacent tissue and eventually metastasis to cervical lymph nodes or distally to mediastinal lymph nodes, lungs, liver, and bone

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18
Q

Palmitoylation is?

A

Process by which fatty acids are covalently anchored to plasma membrane cysteine residues —increasing the hydrophobicity of a protein

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19
Q

Disease characterize4d by short stature and shortened 4th/5th digits, increased PTH level with hypocalcemia and is caused by defective Gs protein a-subunit causing end-organ resistance to PTH?

A

Pseudohypoparathyroidism type 1A–Albring hereditary osteodystrophy

Autosomal dominant–must be inherited from mother due to imprinting

End-organ resistance to PTH

20
Q

Different mutations at the same gene locus cause the same phenotype?

A

Allelic heterogeneity

21
Q

What is the classic triad seen with hemochromatosis?

A

Cirrhosis
DM
Skin pigmentation–bronze diabetes

Excessive GI absorption of Iron

Also causes dilated cardiomyopathy (reversible), hypogonadism, arthropathy–calcium pyrophosphate deposition

22
Q

X-linked genetic condition that results in a defect in signaling molecule important for maturation of B cells –infant develops recurrent Bacterial URIs.

A

X-linked (Bruton) agammaglobulinemia
–defect in Bruton’s tyrosine kinase

Normal T-cells but low or absent B-cells (CD19 and CD20)

23
Q

Proteins destined for the ER possess what signal?

A

N-terminal peptide signal sequences (hydrophobic)
–removing these sequences will result in inappropriate accumulation of the protein in the cytosol because the SRPs are unable to recognize the protein needing to be transported into the ER

24
Q

Infant with increased branch chained amino acids is deficient in what enzyme, which is dependent on ______.

A

Decreased branched-chain a-ketoacid dehydrogenase
–dependent on thiamine as cofactor

I Love Vermont maple syrup from maple tress (with B1ranches)

Tx: restriction of isoleucine, leucine, valine in diet
Supplementation of thiamine

25
Q

Pt with normal circulating testosterone and decreased levels in the seminiferous tubule lumen suggest a deficiency of what, which is produced by what cells?

A

Androgen binding protein (ABP), which is produced by the steroli cells in response to FSH

26
Q

What receptor is within the liver that stimulates gluconeogenesis and glycogenolysis and what stimulates this?

A

Gs–stimulated by glucagon release

27
Q

A blowing holosystolic murmur heard best along the left sternal border that is intensified by inspiration and reduced during standing is characteristic of what murmur?

A

Tricuspid regurgitation

28
Q

Idiopathic pulmonary arterial HTN is characterized by?

A

Increased pulmonary artery pressure and RV failure

—pulmonary endothelial dysfunction

29
Q

Common, benign, uterine smooth muscle tumor that can result in endometrial venous ectasia, which in turn can lead to heavy menstrual bleeding.

A

Leiomyoma

–submucosal/intracavitary fibroids are associated with anemia

30
Q

Hypoglycemia after prolonged fasting with inappropriately low ketone bodies suggests what and what is the most common cause of this?

A

Defective beta-oxidation–most commonly caused by a deficiency in medium chain acyl-CoA dehydrogenase

31
Q

What is an alternative method used by apoptotic cells that allows translation to begin in the middle of mRNA?

A

Internal ribosome entry

32
Q

What helps initiate 5’ cap dependent translocation in eukaryotic cells? Prokaryotic cells?

A

Kozak consensus sequence–comes before AUG (gccgccRccAUG)

Shine-Dalgarno sequence–comes before AUG (AGGAGG)

33
Q

Where is the most frequently involved sight for Crohn disease?

A

Terminal ileum

  • -presents with abdominal pain, diarrhea and low grade fever
  • –other features–aphthous ulcers of the mouth and perianal disease–fissures
34
Q

Pts with osteomalacia have impaired mineralization of what part of the bone?

A

Osteoid

–most commonly caused by inadequate availability of calcium and phosphorus

35
Q

Primary sensory (afferent) neurons that are unmyelinated?

A

Those responsible for slow pain, heat sensation, and olfaction

36
Q

Most all of the efferent neurons are myelinated with one exception, what is it?

A

Postganglionic autonomic neurons are unmyelinated

37
Q

What is standard error and how does it change based on sample size?

A

Measure of variability around the mean

Increased sample size = the smaller the SE

38
Q

Cardiac hypertrophy is characterized by increased rate of…

A

myosin mRNA synthesis

39
Q

What is the MOA of leuprolide and what is it used for?

A

GnRH analog with agonist properties when used in pulsatile fashion; antagonist properties when used in continuous fashion

–LEUprolide can be used in LIEU of GnRH

Used for:

  • Uterine fibroids
  • Endometriosis
  • Precocious
  • Puberty
  • Prostate cancer
  • Infertility
40
Q

What does the trunks arteriosus give rise to?

A

Ascending aorta and pulmonary trunk

41
Q

What lysosomal storage disease causes hepatosplenomegaly, pancytopenia, osteoporosis, and can lead to aseptic necrosis of the femur, bone crisis?

A

Gaucher disease—B-glucocerebrosidase deficiency with accumulation of glucocerebroside

Tissue paper–gaucher cells–lipid laden macrophages

42
Q

DNAse added to a medium of 2 separate strains of bacteria with different resistances will inhibit transfer of the DNA material through what process?

A

Transformation–which is where free DNA is taken up into the cell
–DNAse degrades the naked (free) DNA

43
Q

What glomerulopathy is associated with HIV?

A

FSGS

44
Q

When a skeletal muscle fiber contracts, its maximum velocity of shortening is indirectly proportionate to the ______ attached to the fiber.

A

Afterload

Decreasing after load will increase contraction velocity

45
Q

What does VitD do?

A

Increase intestinal absorption of Calcium and phosphate
Increased renal reabsorption of calcium and phosphate
Decrease PTH secretion
Increased mineralization of bone

46
Q

What is the medical treatment of choice for acute esophageal variceal bleeding?

A

Octreotide–somatostatin —> reduces splanchnic blood flow by inhibiting the hormones responsible for splanchnic vasodilation