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differential pathophysiology management neurology signs dementia geriatrics 21hydroxylasedeficiency 21ohd alzheimersdisease bee classification cord developmentaldelay disorders endocrinology examination gravis hematology hemeonc
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... Algorithm Isolated ... • Genetic Disorder ... #Algorithm #Causes ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... #diagnosis #signs ... #symptoms
BEE Syndromes - Non-inflammatory Causes Immune-mediated conditions affecting the Brain, Eye, and Ear Visual or auditory symptoms in
Non-inflammatory Causes ... conjunction with symptoms ... meningitis • Genetic ... MRI lesions and clinical ... consistent with MS
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... endocrinology #peds ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
workup 1) Clinical ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
Sarcoidosis - Diagnosis ... renal failure Clinical ... at the time of diagnosis ... anterior/posterior MSK ... #Management #Signs
Myasthenia Gravis Overview Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction. Ab to
myasthenia Diagnosis ... test - Cogan sign ... - Peek sign ... immunologic assay - MuSK ... Myasthenia #Gravis #diagnosis
IgA Vasculitis – Henoch Scholein Purpura: Pathogenesis and Clinical Findings - Infectious Agents - 50% have
Pathogenesis and Clinical ... predisposition - Various genetic ... nephrotic/nephritic syndrome ... Pathophysiology #Diagnosis ... #Signs #Symptoms
Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
neurological lesion: Clinical ... and signs below ... Non-compressive Spinal Cord Causes ... MCTD, Sjogren syndrome ... differential #algorithm
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