Shlav

• #tags column:7
• Where is a murmur due to mitral regurgitation the loudest? Apex (mitral area) holosystolic murmur (versus mitral stenosis which presents as a diastolic murmur in this area) CardioPhysiology FAcardio murmurs pediatrics shlavA
• Does mitral valve prolapse cause a systolic or diastolic murmur? Late systolic (with midsystolic click) CardioPhysiology FAcardio murmurs pediatrics shlavA
• What is the shape of a murmur due to mitral valve prolapse? Late crescendo CardioPhysiology FAcardio murmurs pediatrics shlavA
• Where is a murmur due to mitral valve prolapse the loudest? Apex (mitral area) CardioPhysiology FAcardio murmurs pediatrics shlavA
• Does mitral stenosis cause a systolic or diastolic murmur? Diastolic CardioPhysiology FAcardio murmurs pediatrics shlavA
• A murmur with an opening snap is indicative of what pathology? mitral stenosis due to abrupt halt in leaflet motion in diastole, after rapid opening due to fusion at leaflet tips שון שיושב במכון הלב ליד ג׳ורג׳, שמאלן עם חולצה של מרצ, עושה תנועה עם היד למעלה (המום הכי עליון) ומקיש באצבעות - opening snap אחר כך עושה לכיוון האמצעי ואחר כך למטה ומצביע על הרגלית הצרה של התוף של ג׳ורג׳ (קוארקטציה) CardioPhysiology FAcardio memory_palace Mitral_stenosis murmurs pediatrics shlavA
• Atrial septal defect (ASD) results in a left-to-right shunt PFO can results in right-to-right shunt, and cause paradoxical emboli cardio CardioPathology congenital_heart_defects PathomaCardio shlavA step1
• What effect does atrial septal defect (ASD) have on S2 splitting? Causes a wide, fixed split increased blood in right heart delays closure of pulmonary valve cardio CardioPathology congenital_heart_defects PathomaCardio shlavA step1
• Tricuspid atresia requires both ASD and VSD for viability cardio CardioPathology congenital_heart_defects PathomaCardio shlavA step1
• What congenital heart defect is associated with lithium exposure in utero? Ebstein anomaly cardio CardioPathology congenital_heart_defects PathomaCardio shlavA step1
• Ebstein anomaly is a congenital heart disease characterized by downward displacement of tricuspid leaflets into the right ventricle cardio CardioPathology congenital_heart_defects PathomaCardio shlavA step1
• Ebstein anomaly is associated with tricuspid regurgitation and right heart failure cardio CardioPathology congenital_heart_defects PathomaCardio shlavA step1
• Which lysosomal storage disease is characterized by deficiency of α-galactosidase A? Fabry disease biochemistry fat_metabolism metabolism pediatrics round3 shlavA step1
• What is the mode of inheritance of Fabry disease? X-linked recessive biochemistry fat_metabolism metabolism pediatrics round3 shlavA step1
• Which lysosomal storage disease may present with progressive renal failure and cardiovascular disease? Fabry disease (late) biochemistry fat_metabolism metabolism pediatrics round3 shlavA step1
• Which lysosomal storage diseases (2) have an X-linked recessive inheritance? Fabry disease, Hunter syndrome the rest are autosomal recessive biochemistry fat_metabolism metabolism pediatrics round3 shlavA step1
• Hereditary spherocytosis is due to an inherited defect of RBC cytoskeleton-membrane tethering proteins e.g. spectrin, ankyrin anemia heme_onc normocytic_anemia PathomaRBC RBC shlavA step1
• Hirschsprung disease is a congenital megacolon associated with Down syndrome colon GIpathology PathomaGI shlavA step1
• What is the most common cause of chronic pancreatitis in children? cystic fibrosis the most common cause in adults is chronic alcoholism GIpathology pancreas PathomaGI shlavA step1
• Guillain-Barre syndrome results in inflammation and demyelination of peripheral nerves and motor fibers neurology NeuroPathology shlavA step1
• "The features of DiGeorge syndrome (22q11 microdeletion syndrome) may be remembered with the mnemonic ""CATCH 22"": C: Cleft palate A: Abnormal facies T: Thymic aplasia C: Cardiac abnormalities (truncus arteriosus, tetralogy of Fallot) H: Hypocalcemia (lack of parathyroids)" allergy_immunology Chapter2Pathoma immunodeficiency PathomaInflammation shlavA step1
• What is the mode of inheritance of Duchenne and Becker muscular dystrophy? X-linked recessive "hence referred to as ""X-linked muscular dystrophy""" Musculoskeletal MusculoskeletalPathology pediatrics shlavA skeletal step1
• Duchenne muscular dystrophy is typically due to frameshift or non-sense mutations, resulting in a truncated or absent dystrophin protein """Duchenne = Deleted Dystrophin"" (vs. Becker, where dystrophin is mutated)" Musculoskeletal MusculoskeletalPathology pediatrics shlavA skeletal step1
• Becker muscular dystrophy is typically due to a non-frameshift deletion, resulting in a partially functional dystrophin protein therefore dystrophin is mutated but NOT deleted (vs. Duchenne) Musculoskeletal MusculoskeletalPathology pediatrics shlavA skeletal step1
• Duchenne muscular dystrophy classically presents with pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle Musculoskeletal MusculoskeletalPathology pediatrics shlavA skeletal step1
• Duchenne muscular dystrophy is associated with increased serum creatine kinase and aldolase useful for screening for muscular dystrophies, but not specific for DMD; typically elevated before weakness begins Musculoskeletal MusculoskeletalPathology pediatrics shlavA skeletal step1
• Myotonic dystrophy (type 1) is due to CTG trinucleotide repeat expansion in the DMPK gene Musculoskeletal MusculoskeletalPathology shlavA skeletal step1
• "The symptoms of myotonic dystrophy may be remembered with the mnemonic ""CTG"": C: Cataracts T: Toupee (early balding in men) G: Gonadal atrophy" other symptoms include myotonia, muscle wasting, and arryhthmias Musculoskeletal MusculoskeletalPathology shlavA skeletal step1
• What MSK pathology is characterized by impaired relaxation after a single muscle contraction? Myotonic dystrophy MusculoskeletalPathology shlavA step1
• "What is the likely diagnosis in a previously healthy infant that presents with constipation, bilateral ptosis, and a ""floppy"" head? Infant botulism" peds_neuro shlavA
• What is the likely diagnosis in a child with a history of tetralogy of Fallot and recurrent sinusitis that presents with a two-week history of worsening morning headaches, fever, and a recent first-time seizure? Brain abscess congenital heart disease and recurrent sinusitis are important predisposing factors for brain abscess peds_neuro shlavA
• "Jejunal atresia is characterized by a ""triple bubble"" sign and gasless colon on X-ray" symptoms include bilious vomiting and abdominal distention in a newborn GI pediatrics shlavA
• Midgut volvulus is a surgical emergency that classically presents in a neonate with congenital malrotation, manifesting as bilious vomiting and abdominal distention "diagnosed using an upper GI series, which may show a ""corkscrew"" pattern; untreated volvulus can progress to bowel ischemia and perforation" GI pediatrics shlavA
• Duodenal atresia is associated with Down syndrome in up to a third of cases GI pediatrics shlavA
• Abdominal wall defects (e.g. gastroschisis) typically result in elevated maternal serum alpha-fetoprotein during pregnancy GI pediatrics shlavA
• Which abdominal wall defect, omphalocele or gastroschisis, is associated with other major malformations? Omphalocele e.g. cardiac disease, neural tube defects, trisomy syndromes; occurs in ~50% of patients with omphalocele GI pediatrics shlavA
• What is the likely diagnosis in an infant with a history of atopic dermatitis that presents with fever and multiple painful vesicles in the distribution of the eczema? Gram stain of the lesions is negative. Eczema herpeticum due to superimposed HSV-1 infection; requires systemic acyclovir treatment dermatology pediatrics shlavA
• What is the likely diagnosis in a child that presents with generalized erythema, fever, and superficial flaccid bullae with a positive Nikolsky sign? Staphylococcal scalded skin syndrome typically a self-resolving process that only requires supportive care; the Nikolsky sign is positive if gentle lateral pressure on the skin surface causes detachment of the superficial skin dermatology pediatrics shlavA
• Staphylococcal scalded skin syndrome usually affects children, but may also be seen in adults with immunocompromise or renal insufficiency dermatology pediatrics shlavA