17 results
diagnosis pediatrics differential neurology physicalexam causes clinical iem inbornerrors infant management metabolism neonatology nicu syndrome table 21hydroxylasedeficiency 21ohd abnormal agammaglobulinemia
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Neonatology #Peds
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
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
Clinical features of shock from dehydration in an infant Decreased level of consciousness Sunken fontanelle Dry mucous
in an infant Decreased ... urine output Cold ... #PhysicalExam #Signs ... #Dehydration #Peds
Hypochloremia - Differential Diagnosis Algorithm Cause - Decreased Intake: • Low salt in diet • Exclusive D5W
Differential Diagnosis Algorithm ... Cause - Decreased ... - Gitelman SIGNS ... acidosis - Cl⁻ decrease ... #Pathophysiology
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm Central Nervous System - Decreased LOC, Axial
Differential Diagnosis Algorithm ... Nervous System - Decreased ... Syndromes - Spinal Cord ... • Central Core ... #Causes #Peds #
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
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Brudzinski’s Sign ... Brudzinski's sign ... causes spinal cord ... While the pathophysiology ... PhysicalExam #Pediatrics #Peds
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 Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
Spinal Cord Disorders ... Framework Spinal cord ... • Symptoms and signs ... Cauda equina- decreased ... differential #algorithm
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 ... maturation -> Decreased ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology
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