8 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
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 ... #Table #IEM #NICU
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
mutations - Down syndrome ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
disorders (MNCD): Diagnosis ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Geriatrics #Workup
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
40% of patients diagnosed ... Genetic Predisposition ... /Symptoms/Findings ... IgA, IgG, and IgM ... Agammaglobulinemia #XLinked #pathophysiology
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings

 - Infectious Agents - 50% have
predisposition - Various genetic ... nephrotic/nephritic syndrome ... HenochScholeinPurpura #Pathophysiology ... #Diagnosis #Signs ... #Symptoms
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... Familial) HLH: - Genetic ... Presentation • Common Signs ... and Symptoms: ... Pathophysiology