3/17/16 Flashcards
(33 cards)
What does CREST in crest syndrome stand for?
C-Calcinosis (skin nodules formed by the deposition of calcium salts)
R- Raynaud phenomenon
E- Esophageal dysfunction
S- Sclerodactly (thickening of the skin of the fingers or toes)
T- Telangiectasias
AIP (acute intermittent porphyria) enzyme deficiency
Uroporphyrinogen I synthetase (porphobilinogen deaminase)
Porphobilinogen accumulates
(Question with girl on extreme diet causing AIP attack decrease intake of amino acids to build enzyme)
Porphyria Cutanea tarda enzyme deficiency
Uroporphyrinogen decarboxylase
Cystinuria (defect in tubular amino acid transporter in the kidneys)
COLA transporter
- Cystine, ornithine, lysine and arginine transport commonly impaired
- Cystine stones
- AR
Homocystinuria enzyme deficiency
- Cystathionine synthase
- Homocysteine in urine
- Retardation and osteoporosis
Recurrent and relapsing spiking fevers accompanied by polyarticular joint pain and an evanescent macular, salmon-pink rash (anywhere on body)
JIA
In adults is called Still disease
JIA Tx:
NSAIDS, corticosteroids, methotrexate, IV immune globulin
ETANERCEPT (inhibitor of tumor necrosis factor)
Familial Mediterranean fever inheritance
Autosomal Recessive Dysfunction of neutrophils Episodes of fever and acute serosal inflammation Can mimic apendicitis, arthritis or MI secondary amyloidosis
Ranke Complex
Evolution of a Ghon complex with radiographic calcification of the nodule
Incomplete fusion of _________ ____________ leads to a bicornuate uterus.
Paramesonephric ducts
Mesonephric (wolffian) ducts in the presence of mullerian-inhibiting substance and testosterone develop into what?
SEED S-seminal vesicles E- Epididymis E- Ejaculatory duct D- Ductus deferens
In females, remnant of Mesonephric duct
Gartner duct
Fracture of the hamate…what nerve can be involved?
Ulnar
Old Man Rivers falls on outstretched hand (forced dorsiflexion). X-ray shows posterior displacement of the distal part of radius (dinner fork). What is this called?
Colles fracture (complete transverse fracture of the distal radius)
The ________ ________ fuse to form a single uterus, cervix, and superior third of the vagina.
Paramesonephric ducts
An autosomal recessive syndrome that results in the failure to express CD18
LAD (leukocyte adhesion deficiency)
-Present with delayed separation of umbilical cord stump and omphalitis
When in meiosis do nondisjunctions of homologous chromosomes occur?
Anaphase I or II (ex. Down syndrome)
Medications that cause hemolytic anemia in G6PD patients
“PAINS”
(Oxidizing drugs):
Primaquine, Aspirin and NSAIDs, Ibuprofen, Nitrofurantoin, and Sulfonamides
Mutation in CF
Three-nucleotide deletion of codon 508 of CFTR gene on chromosome 7 that codes for phenylalanine
DMD mutation that can often lead to a premature stop codon
Frameshift mutation (insertion or deletion of codon/s NOT a multiple of 3)
BMD mutation is often what kind of mutation (making it less severe)
In-frame (nonframeshift) deletion → allows for production of dystrophin that retains some function
Bruton’s agammaglobulinemia (XR)
Defect in BTK tyrosine kinase gene associated with B lymphocyte differentiation
Recurrent bacterial infection after 6 months of age
Bruton’s agammaglobulinemia (XR) Tx
IV immunoglobulin
Wiskott-Aldrich Syndrome (x-linked) tetrad:
Eczema
Thrombocytopenia→bloody diarrhea
Immune deficiency
Low IgM and HIGH IgA and IgE
