April 18 Flashcards
Paget’s disease is associated with development of what malignancy?
Osteosarcoma
What is globus sensation?
Feeling of lump in throat without accompanying physical, endoscopic or radiographic findings of esophageal obstruction
Synovial fluid analysis of pt with gout will show what?
Numerous neutrophils with slender, needle shaped, and negatively birefringent monosodium urate crystals
What is a sensitive indicator of apoptosis?
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
What type of mutation should be consider when a genetic mutation is present in offspring but not in the parents?
Germline (gondal) mosaicism –mutation only in egg or sperm cells
Look for ______ in cytoplasm when pt has leukemia.
Auer rods–Acute myelogenous leukemia t(15;17)
What cytokine is exclusively produced by T lymphocytes and what is its function?
IL-2–stimulates the growth and differentiation of T cells, B cells NK cells, macrophages
Umbilicated, flesh colored papules on the skin and mucous membranes with cytoplasmic inclusion bodies seen on microscopy?
Molluscum contagiosum–Molluscum bodies
Injury to what structure is most likely with anterior or posterior knee dislocation?
Popliteal artery
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?
Postpartum endometritis–due to cesarean delivery
–Infection of the uterus
What does secretin cause within the exocrine pancreas?
Increased secretion of HCO3- and decreased secretion of Cl-
What enzyme is affected in acute intermittent porphyria and what step in him synthesis does this involve?
Prophobilinogen deaminse
Prophobilingoen—> Hydroxymethylbilane
CHF is a common cause of transudative pleural effusion. What is seen with respect to protein and lactate dehydrogenase levels?
Decreased protein and LDH
If a patient inherits or develops a mutation in a tumor suppressor gene, the complementary allele must be deleted/mutated before cancer develops?
Loss of heterozygosity
Retinoblastoma and the “two-hit hypothesis”
Lynch syndrome (HNPCC)
Li-Fraumeni syndrome
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?
Complete androgen insensitivity 46 XY karyotype
Mullerian agenesis–46 XX with missing uterus and upper vagina but normal hormone levels
Premature infants are at increased risk of intraventricular hemorrhage due to what?
Germinal matrix fragility
Vast majority of cancers in the head and neck are ?
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
Palmitoylation is?
Process by which fatty acids are covalently anchored to plasma membrane cysteine residues —increasing the hydrophobicity of a protein
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?
Pseudohypoparathyroidism type 1A–Albring hereditary osteodystrophy
Autosomal dominant–must be inherited from mother due to imprinting
End-organ resistance to PTH
Different mutations at the same gene locus cause the same phenotype?
Allelic heterogeneity
What is the classic triad seen with hemochromatosis?
Cirrhosis
DM
Skin pigmentation–bronze diabetes
Excessive GI absorption of Iron
Also causes dilated cardiomyopathy (reversible), hypogonadism, arthropathy–calcium pyrophosphate deposition
X-linked genetic condition that results in a defect in signaling molecule important for maturation of B cells –infant develops recurrent Bacterial URIs.
X-linked (Bruton) agammaglobulinemia
–defect in Bruton’s tyrosine kinase
Normal T-cells but low or absent B-cells (CD19 and CD20)
Proteins destined for the ER possess what signal?
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
Infant with increased branch chained amino acids is deficient in what enzyme, which is dependent on ______.
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
Pt with normal circulating testosterone and decreased levels in the seminiferous tubule lumen suggest a deficiency of what, which is produced by what cells?
Androgen binding protein (ABP), which is produced by the steroli cells in response to FSH
What receptor is within the liver that stimulates gluconeogenesis and glycogenolysis and what stimulates this?
Gs–stimulated by glucagon release
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?
Tricuspid regurgitation
Idiopathic pulmonary arterial HTN is characterized by?
Increased pulmonary artery pressure and RV failure
—pulmonary endothelial dysfunction
Common, benign, uterine smooth muscle tumor that can result in endometrial venous ectasia, which in turn can lead to heavy menstrual bleeding.
Leiomyoma
–submucosal/intracavitary fibroids are associated with anemia
Hypoglycemia after prolonged fasting with inappropriately low ketone bodies suggests what and what is the most common cause of this?
Defective beta-oxidation–most commonly caused by a deficiency in medium chain acyl-CoA dehydrogenase
What is an alternative method used by apoptotic cells that allows translation to begin in the middle of mRNA?
Internal ribosome entry
What helps initiate 5’ cap dependent translocation in eukaryotic cells? Prokaryotic cells?
Kozak consensus sequence–comes before AUG (gccgccRccAUG)
Shine-Dalgarno sequence–comes before AUG (AGGAGG)
Where is the most frequently involved sight for Crohn disease?
Terminal ileum
- -presents with abdominal pain, diarrhea and low grade fever
- –other features–aphthous ulcers of the mouth and perianal disease–fissures
Pts with osteomalacia have impaired mineralization of what part of the bone?
Osteoid
–most commonly caused by inadequate availability of calcium and phosphorus
Primary sensory (afferent) neurons that are unmyelinated?
Those responsible for slow pain, heat sensation, and olfaction
Most all of the efferent neurons are myelinated with one exception, what is it?
Postganglionic autonomic neurons are unmyelinated
What is standard error and how does it change based on sample size?
Measure of variability around the mean
Increased sample size = the smaller the SE
Cardiac hypertrophy is characterized by increased rate of…
myosin mRNA synthesis
What is the MOA of leuprolide and what is it used for?
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
What does the trunks arteriosus give rise to?
Ascending aorta and pulmonary trunk
What lysosomal storage disease causes hepatosplenomegaly, pancytopenia, osteoporosis, and can lead to aseptic necrosis of the femur, bone crisis?
Gaucher disease—B-glucocerebrosidase deficiency with accumulation of glucocerebroside
Tissue paper–gaucher cells–lipid laden macrophages
DNAse added to a medium of 2 separate strains of bacteria with different resistances will inhibit transfer of the DNA material through what process?
Transformation–which is where free DNA is taken up into the cell
–DNAse degrades the naked (free) DNA
What glomerulopathy is associated with HIV?
FSGS
When a skeletal muscle fiber contracts, its maximum velocity of shortening is indirectly proportionate to the ______ attached to the fiber.
Afterload
Decreasing after load will increase contraction velocity
What does VitD do?
Increase intestinal absorption of Calcium and phosphate
Increased renal reabsorption of calcium and phosphate
Decrease PTH secretion
Increased mineralization of bone
What is the medical treatment of choice for acute esophageal variceal bleeding?
Octreotide–somatostatin —> reduces splanchnic blood flow by inhibiting the hormones responsible for splanchnic vasodilation