15 results
diagnosis symptoms peds management differential physicalexam psychiatry riskfactors 21hydroxylasedeficiency 21ohd agammaglobulinemia algorithm als alzheimersdisease amyotrophic anorexianervosa brudzinskis bulimianervosa chagas chondrocalcinosis
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... #Pathophysiology
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
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Alzheimer’s Disease ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Rheumatoid arthritis (RA): Pathogenesis and Joint diseases features • RA affects 1% of population, women >
Pathogenesis and Joint diseases ... small joints (wrists ... fingers, radial wrist ... RheumatoidArthritis #RA #pathophysiology ... #signs #symptoms
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 ... While the pathophysiology ... despite severe disease ... #PhysicalExam #Pediatrics
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 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
Keratoconus: Pathogenesis and Clinical Findings Genetics • Family history of keratoconus • Ehlers-Danlos syndrome • Down, Turner,
Clinical Findings Genetics ... rubbing • Atopic diseases ... > Keratoconus Signs ... • Rizutti's Sign ... #Keratoconus #pathophysiology
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
Chagas Disease - American Trypanosomiasis - Diagnosis and Management Summary Chagas disease (American trypanosomiasis) is an infectious
Romana's sign ... Indeterminate form (No signs ... symptoms, positive serology ... q12h)x60 days • Pediatric ... 90-120 days • Pediatric
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... Presentation: - Disease ... of UMN and LMN signs ... course of the disease ... Lateral #Sclerosis #neurology
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