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33 Cards in this Set
- Front
- Back
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what are the characteristics of myotonic muscular dystrophy (MMD)?
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2nd mc muscular dystrophy in the US
auto dominant all muscle types (skel/smooth/card) progressive muscle wasting *delayed muscle relaxation |
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how do you treat infant botulism?
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supportive care
or human-derived botulinum antitoxin (not equine-derived) |
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what are the characteristics of Duchenne muscular dystrophy (DMD)?
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pseudohypertrophy of the calves
(+) Gower's sign (prox muscle weakness) X-linked recessive |
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how do you screen for/diagnose Duchenne muscular dystrophy (DMD)?
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screen with serum CK
diagnose with muscle biopsy |
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hand-foot syndrome/dactylitis is the earliest manifestation of _____
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vaso-occlusive disease in sickle cell anemia
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what needs to be done with a pt with pyloric stenosis prior to surgery?
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stabilize hydration status and electrolytes
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what are the features of a pt with Prader-Willi syndrome (obesity hypogonadism syndrome)? (5)
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hypotonia
hypogonadism obesity mental retardation craniofacial features: - narrow bifrontal diameter - diamond-shaped eyes - small, down-turned mouth |
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what are common features of a newborn with trisomy 18 (Edward's syndrome)?
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low birth weight
closed fists (overlapping digits) rocker-bottom feet microcephaly cardiac/renal malformations mental retardation |
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what are common features of a newborn with trisomy 13 (Patau's syndrome)?
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cleft lip/palate
polydactyly ocular hypotelorism low-set malformed ears microephaly |
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what should you do with a pt with acute alkali ingestion?
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upper gastrointestinal endoscopy
(don't try to neutralize with vinegar or lavage) |
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vesicoureteral reflex (VUR) is a risk factor for _____ and can lead to _____ in children
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UTS, with chronically can lead to renal scarring and end stage renal disease/HRN in children
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what is the best way to diagnose vesicoureteral reflux (VUR)? (2)
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with a voiding cystourethrogram (VCUG) or radionuclide cystogram (RNC)
(AAP recommends that all children 2-24 mo with a UTE should get one) |
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what are the classical symptoms of the measles?
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four day fever
"3 C's": - cough - coryza (runny nose) - conjunctivits (red eyes) Koplik's spots |
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what is a common hemotologic problem with measles?
what txt reduces the assd morbidity and mortality? |
leukopenia (T-cell cytopenia)
thrombocytopenia txt: Vitamin A |
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how does iron poisoning present?
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nausea/vomiting/diarrhea
GI bleeding metabolic acidosis (tablets can be seen on x-ray) |
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how do you diagnose/treat iron poisoning?
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diagnosis: confirmed w/ a serum iron
txt: IV deferoxamine (iron chelator) |
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what are the features of a child with congenital hypothyroidism?
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nl at birth
apathy/weakness/hypotonia large tongue abdominal bloating umbilical hernia |
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clinical features of a pt with Turner syndrome?
what cardiovascular abnormality? |
short stature
short webbed neck low posterior hairline broad chest (wide nipples) coarctation of the aorta |
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what patient population typically gets tetralogy of Fallot (TOF)?
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pts w/ Down syndrome
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what is the test of choice for pyloric stenosis diagnosis?
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abdominal ultrasound
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if a child develops any complication (anaphylactic/encephalopathy/CNS) <7 days post DTap, for the next vaccination _____
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DT should be given since pertussis is typically the cause of the adverse reaction
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what is the classical presentation of neonatal necrotizing enterocolitis (NEC)?
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preterm/low birth weight infant
fever vomiting abdominal distension pneumatosis intestinalis (gas in bowel wall on x-ray) |
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a pt with whooping cough severe enough to cause rectal prolapse and pneumothoraces likely has _____
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Bordetella pertussis
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a neonate with bloody diarrhea, eosinophils in the stool and family history of atopy may have _____
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milk protein intolerance
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what is normal testicular size in prepubertal males?
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2 cm in length
3 mL in volume |
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what are the (2) tests used in the diagnosis of syphilis?
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FTA (Fluorescent Treponemal Antibody) test - most specific
VDRL (Veneral Disease Research Laboratory) test RPR (Rapid Plasma Reagin) test [false-positive RPR assd with lupus (SLE)] |
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what tests are specific and confirmatory for the diagnosis for systemic lupus erythematosus (SLE)?
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(+) anti-Smith antibodies
anti-double stranded DNA antibodies |
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what are the clinical diagnostic criteria for systemic lupus erythematosus (SLE)?
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"SOAP BRAIN MD" - 4 out of 11
(S)erositis - pleuritis/pericarditis (O)ral ulcers (A)rthritis (P)hotosensitivity (B)lood disorder - anemia/leukopenia/lymphopenia/thrombocytopenia (R)enal disorder - proteinuria/cellular casts (A)nti-nuclear antibody (+) (I)mmunologic disorder - (+) anti-Smith/anti-ds DNA/antiphospholipid ab/syphilis (false) (N)eurologic disorder - psychosis/seizures (M)alar rash (butterfly face) (D)iscoid rash (red/scaly) |
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what are typical features of a pt with osteogenesis imperfecta?
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blue sclera
recurrent fractures hearing loss joint laxity short/scoliosis (mutation in type 1 collagen) |
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what is hemorrhagic disease of the newborn (HDN)?
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due to Vitamin K deficiency
decr clotting factors (2, 7, 9, 10) prolonged PT (>15 sec) |
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bedwetting is normal until the age of __
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5 years old
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what are epicanthal folds?
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a skin fold of the upper eyelid (from nose to inner side of the eyebrow) covering the inner corner of the eye
(common in fetal alcohol syndrome) |
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what are 2 common causes of not passing meconium?
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1) Hirschprung dz
2) cystic fibrosis |
