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diagnosis pediatrics neurology causes iem inbornerrors management metabolism neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd als amyotrophic chloride disorders endocrinology fever
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
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
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm Central Nervous System - Decreased LOC, Axial
Floppy Newborn) - Differential ... Diagnosis Algorithm ... Nervous System - Decreased ... • Central Core ... #Causes #Peds #
Hypochloremia - Differential Diagnosis Algorithm Cause - Decreased Intake: • Low salt in diet • Exclusive D5W
Hypochloremia - Differential ... Diagnosis Algorithm ... - Gitelman SIGNS ... #Diagnosis #Algorithm ... #Pathophysiology
Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
- Differential ... • Symptoms and signs ... Cauda equina- decreased ... diagnosis #neurology #differential ... #algorithm
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... Volume depletion → Decreased ... → Syncope • Signs ... sweaty skin - Decreased
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... - Reflexes: decreased ... • Bilateral signs ... management #neurology #differential
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... - Fatigue and decreased ... conditions listed in differential
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