19 results
diagnosis differential symptoms peds hematology psychiatry classification iem inbornerrors management metabolism neonatology nicu riskfactors syndrome table vasculitis 21hydroxylasedeficiency 21ohd agammaglobulinemia
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm
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
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Differential Diagnosis Algorithm ... Syndromic • Genetic ... Disorder (e.g. ... Differential #Diagnosis #Algorithm ... #Causes #Peds #Pediatrics
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
Eosinophil Disorders Testing Algorithm INDICATIONS FOR TESTING: • Peripheral blood eosinophilia/hypereosinophilia uncovered incidentally during medical evaluation or
Eosinophil Disorders ... Testing Algorithm ... organ-specific signs ... #Eosinophil #Disorders ... #Algorithm #Differential
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders ... Differential Diagnosis Algorithm ... Lymphoproliferative #Disorders ... Classification #pathophysiology ... #differential #algorithm
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
neurocognitive disorders ... hallucinations - Movement disorders ... (parkinsonian signs ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
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
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