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diagnosis neurology algorithm genetics management pediatrics peds 21hydroxylasedeficiency 21ohd als alzheimersdisease amyotrophic causes comatose dementia diappers disorders endocrinology findings incontinence
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Signs/Symptoms ... delayed puberty -> Infertility ... , sleep apnea, cor ... #genetics #pathophysiology ... #peds #pediatrics
Pulmonary Pathology and Associated Lung Ultrasound Findings Pneumothorax: - No lung sliding/barcode sign - Lung point (hard
sliding/barcode sign ... Respiratory Distress Syndrome ... lung sliding COPD ... #pulmonary #differential ... #diagnosis #signs
Causes of Urinary Incontinence - Differential Diagnosis Algorithm - Transient - Easily reversible cause (DIAPPERS)
Incontinence - Differential ... Contraction - Signs ... neuropathy or spinal cord ... , cauda equina syndrome ... DIAPPERS #Mnemonic #Geriatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
mutations - Down syndrome ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
- Differential ... • Symptoms and signs ... Tract Lesions: • Bilateral ... MCTD, Sjogren syndrome ... diagnosis #neurology #differential
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 ... Hirsutism & acne • Infertility ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... lesion • Bilateral ... signs and/or symptoms ... management #neurology #differential
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... EMG: LMN Signs in ... conditions listed in differential
The Neurological Evaluation of a Comatose Patient Definition: • Coma: a state of unresponsiveness; the absence of
consciousness Differential ... • Locked-in syndrome ... • Mutism Pathophysiology ... dysfunction to the bilateral ... • Examine for signs
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