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inbornerrors metabolism neonatology nicu table 21hydroxylasedeficiency 21ohd agammaglobulinemia algorithm aortoenteric causes classification dementia endocarditis endocrinology epiglottitis fistula geriatrics immunology laboratory
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
MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... #IEM #NICU #InbornErrors
Epiglottitis - Swollen inflamed epiglottis Clinical (Rapid onset) • Fever • Sore throat
inflamed epiglottis Clinical ... #Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
workup 1) Clinical ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup
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
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 ... Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs
Non-Infective Endocarditis (NBTE / Marantic Endocarditis) Non-infective endocarditis is also known as: Non-bacterial thrombotic endocarditis (NBTE), Aseptic
absent How can we differentiate ... from infective IE ... pathognomonic signs ... high index of clinical ... #pathophysiology
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
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