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symptoms iem inbornerrors management metabolism neonatology nicu physicalexam table 21hydroxylasedeficiency 21ohd agammaglobulinemia alkaptonuria alzheimersdisease blackurine brudzinskis cirrhosis cop cryptogenic dementia
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
complex storage diseases ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... #pathophysiology ... #peds #pediatrics
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
additions, for diagnosing ... 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
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #genetics #endocrinology ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
While the pathophysiology ... despite severe disease ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics ... #Peds
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 Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
incomplete Kawasaki Disease ... and lab signs ( ... #Diagnosis #Peds ... #Pediatrics #Kawasaki ... #Algorithm
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... 40% of patients diagnosed ... history of the disease ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology
Clinical features of Liver Disease in Children #Cirrhosis #LiverFailure #Signs #Symptoms #PhysicalExam #Findings #Diagnosis #Peds #Pediatrics #Hepatology **
Clinical features ... of Liver Disease ... #LiverFailure #Signs ... PhysicalExam #Findings #Diagnosis ... #Peds #Pediatrics
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