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diagnosis management algorithm iem inbornerrors metabolism neonatology neurology nicu syndrome table 21hydroxylasedeficiency 21ohd aortoenteric causes classification cop cryptogenic dementia developmentaldelay
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
presentations in acute ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism A table of lab values compiled from UpToDate and
for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
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
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... Mechanical (e.g. dental ... Algorithm #Causes #Peds ... #Pediatrics
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
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children) Upper Respiratory Tract Infection: - Bacterial: Streptococcus
Acute Otitis Media ... #OtitisMedia #pathophysiology ... diagnosis #symptoms #signs ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
body dementia - Visual ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
Weakness - Differential Diagnosis Framework Approach To Weakness: • Non-neuromuscular disorder (Cardiac, pulmonary etc) • CNS ->
Weakness - Differential ... (generalized, distal ... Impairment: • Acute ... Lack of UMN/LMN signs ... Malignancy-associated myositis • Genetic
Aortoenteric Fistula - Diagnosis and Management Summary Epidemiology: • Uncommon but life-threatening • Most common site of bowel connection
duodenum Clinical Signs ... • Should be on differential ... Pathophysiology: ... patients with acute ... inspection of the distal
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
mental status • Visual ... Etiology: • Pathophysiology ... Neurological symptoms: Acute ... Reversible course Differential ... syndrome, ADEM, Acute
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