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diagnosis syndrome iem inbornerrors management metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd adult algorithm apml cardiology cardiomyopathy causes cop cryptogenic differentiation
Signs and Symptoms of Respiratory Distress Through the Years. #signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #signs #symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... Poor suckling -> Neonatal ... sleep apnea, cor pulmonale ... #pathophysiology ... #peds #pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Differentiation Syndrome in APML Epidemiology: • Incidence: common in APL (2-48% depending on the study) • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... Imaging: CXR- pulmonary ... Diagnosis: >3 symptoms ... initiation • Differential
Cryptogenic Organizing Pneumonia - Illness Script PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... : Unknown trigger ... Females SIGNS/SYMPTOMS ... identified (autoimmune, meds ... diagnosis #management #pulmonary
Peripartum Cardiomyopathy (PPCM) What is PPCM? • A form of acute systolic heart failure that develops late in
normal pregnancy symptoms ... 🧬 Hormonal Triggers ... Susceptibility • Genetic ... , selenium) Differential ... parturition probably trigger
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... DIFFERENTIAL DIAGNOSIS ... both diseases are triggered ... articular syndrome/neonatal-onset ... neutropenia (CyN) This genetic
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