5 results
diagnosis 21hydroxylasedeficiency 21ohd childhood endocrinology examination hemophagocytic hlh immunization lymphohistiocytosis management newborn physicalexam praderwilli syndrome treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
most frequently affects ... infants < 3 months ... Diagnosis: HLH signs ... and symptoms can ... management #treatment #hematology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... paediatrician or geneticist ... always needs urgent assessment ... #Examination #Peds ... #Pediatrics #Diagnosis
Childhood Immunization Schedule: Why we immunize • Diphtheria Toxin -> URT inflammation causes pseudomembrane with hardened
invade URT & via hematologic ... hemorrhagic rash; symptoms ... causes CNS and hematologic ... #Immunization #peds ... #pediatrics #pathophysiology
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