UWorld Questions 2 Flashcards
(383 cards)
Bloom Syndrome?
mutation in the BLM gene which codes for helicase; defective helicase results in chromosome instability and breakage and results in growth retardation, facial anomalies, photosensitive rash, immunodeficiencies, small stature and infertility
Fabry (XR)?
deficiency in alpha-galactosidase and globotriaosylceramide (ceramide trihexoside) accumulates
angiokeratomas, peripheral neuropathy, and hypohidrosis
Adulthood - renal and CV complications, and cerebral vascular accident
Gaucher?
Most common in Ashkenazi Jews (founder effect)
hepatosplenomegaly, pancytopenia, osteopenia/bone pain; delayed puberty and birth
Difference between Krabbe and Metachromatic leukodystrophy?
Krabbe - def in galactocerebrosidase, acc galactocerebroside; peripheral neuropathy, CNS, OPTIC ATROPHY
McL - def in arylsulfatase A, acc cerebroside sulfate; peripheral neuropathy, CNS
What gene defects is Tuberous Sclerosis associated with?
defective tumor suppressor genes - hamartin (TSC1) and tuberin (TSC2) - characterized by cutaneous angiofibromas, brain hamartomas, and cardiac rhabdomyomas
How will individual units of Hemoglobin act?
Like myoglobin - high affinity for oxygen
What is carnitine synthesized from? what cofactor?
- responsible for transporting FA into the mitochondria for beta-oxidation; made from LYSINE and METHIONINE vitamin C is essential
Autoantibody of lupus?
anti Smith Ab
small nuclear RNA (snRNA) synthesized by RNA polymerase II complexes with certain proteins (Smith proteins) to form snRNP (small nuclear ribonuclear proteins)
Activity of leptin
leptin is a protein hormone produced by adipocytes - it acts on the arcuate nucleus of the hypothalamus inhibiting production of neuropeptide Y (decreasing appetite) and stimulate production of alpha-MSH (increasing satiety)
Effects of ionizing radiation as a cancer therapy? Characteristic cell death curve?
Ionizing radiation can cause:
- double-stranded DNA breaks
- free radical formation - reactive oxygen species are formed by the ionization of water
Characteristic cell death curve shows a nearly flat line on initial exposure, followed by a steep increase in cell death as radiation dose decreases
compare with UV radiation which is non-ionizing and can cause pyrimidine dimers
Hemoglobin curve shifts? What is 2,3 DPG?
Left (less available to tissues)- decrease H+, temperature, 2,3-DPG
Right (more available to tissues) - increase H+, temperature, 2,3-DPG
2,3 DPG is an organophosphate created in erythrocytes during glycolysis; the production of 2,3DPG is increased when oxygen availability is reduced (chronic lung disease, heart failure, high altitudes)
2,3 DPG is negatively charged and binds strongly in HbA where the binding pocket has positively charged residues of lysine and histidine; FAMILIAL ERYTHROCYTOSIS results from defective binding to 2,3 DPG
Patau Syndrome - cause and defects?
compare with phenytoin exposure in utero?
GI issue associated with Edwards?
valproate (medication for epilepsy or bipolar disorder)?
Gi issue associated with Down’s Syndrome?
defect in the fusion of the prechordal mesoderm and integral embryonic structure affecting growth of the midbrain, eyes, and forebrain
holoprosencephaly, microopthalmia, cleft lip/palate, omphalocele, polydactlyly, cutis aplasia, cardiac defects
phenytoin exposure: cardiac defects, hypoplastic nails, cleft lip/palate
- Meckel’s diverticulum - incomplete closure of the vitelline duct (normally connects the midgut and the yolk sac, also called omphalomesenteric duct); can present with bleeding due to ectopic gastric mucosa
- can cause neural tube defects because you have impaired folate metabolism
- UMBILICAL HERNIA - incomplete closure of the umbilical ring; normally it forms the linea alba
nicotine exposure during childbirth
secondhand smoke?
placenta previa, abruption, prematurity, low birth weight
SIDS, asthma, respiratory tract infections, otitis media, decreased GFR (reduced renal function)
decreased estriol during pregnancy - causes fetal growth restriction
How would you distinguish Cori with von Gierke?
Both have hepatic involvement, but Cori also has muscle involvement (muscle weakness and hypotonia)
VG does not have muscle involvement but you have hyperlipidemia, hyperuricemia, and hepatic steatosis
Pathogenesis of pigment gallstones
pigment gallstones are soft and dark brown to black
composed of calcium salts of unconjugated bilirubin and arise secondary to bacterial or helminthic infections of the biliary tract; Clonorchis sinensis has a high prevalence in Asian countries (BROWN)
beta-glucuronidase released by injured hepatocytes and bacteria hydrolyzes bilirubin glucuronides to unconjugated bilirubin
BLACK - due to hemolysis; radioopaque because unconjugated combines with calcium
Chediak-Higashi Syndrome is characterized by
disorder of phagosome-lysosome formation (abnormal lysosomal inclusions seen under the microscope) –> neurological abnormalities, albinism, and immunodeficiency
Henoch-Schonlein purpura is characterized by
IgA mediated Type III hypersensitivity that follows infection - deposition of IgA containing immune complexes in small vessels results in vasculitis
purpura, arthralgias, abdominal pain, hematuria
Tests for chronic granulomatous disease (NAPDH oxidase)
nitroblue tetrazolium dye - add NBT to patient’s neutrophils; properly functioning neutrophils produced ROS that can reduce the yellow NBT to dark blue formazan that precipitates within cells
Dihydrorhodamine - assesses the production of superoxide radicals by measuring the conversion of DHR to rhodamine which is a fluorescent green
catalase positive organism - Burkholderia cepacia
How you do prevent hemolytic disease of the newborn in a Rh+ fetus with an Rh- mother?
Anti-Rh immune globulin consists of IgG anti-D antibodies that opsonize fetal Rh+ erythrocytes promoting clearance by maternal reticuloendothelial macrophages and preventing maternal Rh sensitization; routinely administered to Rh negative women 28 weeks gestation and immediately postpartum
Name the autoimmune disease
- anti-mitochondrial
- anti-centromere, anti-topoisomerase (Scl-70), anti-RNA Polymerase III
- anti-phospholipase A2 receptor
- anti-smooth muscle
- anti Jo-1 (anti tRNA-histidyl synthetase)
- primary biliary cirrhosis (this can lead to hyperlipidemia causing xanthomas on the eyelid, tendons etc. under a microscope - foam-laden macrophages)
- CREST syndrome (calcifications, raynauds, esophageal dysmotility, schlerodactyly, telangiectastia)
- primary membranous nephropathy
- autoimmune hepatitis
- polymyositis (increased creatine kinase and aldolase; associated complications are myocarditis and interstitial lung disease; can indicate an underlying malignancy - adenocarcinoma)
Anti-phospholipid syndrome?
Autoimmune condition (against CARDIOLIPIN) - antiphospholipid antibody syndrome causes hyper-coagulability, paradoxical PTT prolongation, and recurrent miscarriages (spontaneous abortions)
Reactive arthritis
the classic triad is urethritis, conjunctivitis, and arthritis; HLA-B27 associated; several weeks after a genitourinary or enteric infection
can present with sacroilitis, keratoderma blennorrhagium (hyperkeratotic vesicles on the palms and soles), and circinate balanitis (annular dermatitis of the glans penis)
Major way to prevent reinfection with influenza
antibodies against hemagglutinin in the inactivated vaccine
Bortezomib mechanism of action ()
binds and inhibits the 26S proteasome; in multiple myeloma, it can facilitate the apoptosis of neoplastic cells by preventing degradation of pro-apoptotic metabolites