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diagnosis symptoms pediatrics iem inbornerrors metabolism neonatology nicu riskfactors table vasculitis 21hydroxylasedeficiency 21ohd agammaglobulinemia anorexianervosa anxiety arteritis behavioraldisorder bulimianervosa differential
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 ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations Risk Factors: - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Anemia - Giant cells ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... from precursor cells ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
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
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
predisposition - Various genetic ... various inflammatory cells ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs
Panic Disorder: Pathogenesis and clinical findings Social Factors • Parenting and infant attachment • Childhood illness/abuse •
Neurotic personality Genetics ... BehavioralDisorder #Pathophysiology ... diagnosis #symptoms #signs ... #psychiatry
Anorexia Nervosa: Pathogenesis and Risk Factors Biological Risk Factors • Gender: F > M • Genetics: concordance
Gender: F > M • Genetics ... AnorexiaNervosa #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry
Bulimia Nervosa: Pathogenesis and Risk Factors Biological Risk Factors • Gender: F > M • Genetics: Some
Gender: F > M • Genetics ... BulimiaNervosa #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry
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