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diagnosis pediatrics inbornerrors management metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd algorithm aortoenteric cardiology cardiomyopathy classification dementia endocrinology fistula geriatrics immunology
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
X-Linked Agammaglobulinemia ... Pathogenesis and clinical ... Genetic Predisposition ... IgA, IgG, and IgM ... #XLinked #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
workup 1) Clinical ... MRI, iADL scale, ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Aortoenteric Fistula - Diagnosis and Management Summary Epidemiology: • Uncommon but life-threatening • Most common site of bowel connection
the duodenum Clinical ... Signs/Symptoms: ... • Should be on differential ... Pathophysiology: ... - CMC IM Residency
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Differential Diagnosis ... Genetic predisposition ... Clinical • Under-recognized ... during Delivery • Stable
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