13 results
diagnosis pediatrics differential neurology clinical management physicalexam syndrome 21hydroxylasedeficiency 21ohd abnormal agammaglobulinemia als amyotrophic atlas beaus brudzinskis causes diseases disorders
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
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
Differential Diagnosis Algorithm ... Nervous System - Decreased ... • Central Core ... Disease • ... #Causes #Peds #
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Brudzinski’s Sign ... causes spinal cord ... While the pathophysiology ... despite severe disease ... PhysicalExam #Pediatrics #Peds
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 X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
epidemiology of this disease ... history of the disease ... Signs of immunodeficiency ... Genetic Predisposition ... Agammaglobulinemia #XLinked #pathophysiology
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
Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
Spinal Cord Disorders ... • Symptoms and signs ... Cauda equina- decreased ... Sarcoidosis, Behcet disease ... differential #algorithm
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... super-antigen mediated disease ... - Reflexes: decreased ... • Bilateral signs ... MCTD - Bechet disease
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... Presentation: - Disease ... multiple spinal cord ... course of the disease ... - Fatigue and decreased
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
incomplete Kawasaki Disease ... purposes of this algorithm ... lack of tapering, decreased ... clinical and lab signs ... #Diagnosis #Peds
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