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diagnosis neurology management pediatrics peds syndrome 21hydroxylasedeficiency 21ohd als amyotrophic bronchiectasis edema endocrinology evaluation falls fever geriatrics heat heatstroke illness
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... , sleep apnea, cor ... #Syndrome #genetics ... #pathophysiology
Uncommon Causes of Noncardiogenic Pulmonary Edema (NCPE) - Differential Diagnosis Framework High Altitude Pulmonary Edema: • Accumulation
Edema (NCPE) - Differential ... • Signs/Symptoms ... • Signs/Symptoms ... - The classic signs ... #differential #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology
Bronchiectasis - Summary What? • Bronchiectasis is derived from the Greek words bronckos meaning airway and ectasis meaning
inflammation Symptoms ... Most Common Causes ... Nasal polyps and signs ... Physical stigmata of cor ... #differential #
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... • Infectious causes ... management #neurology #differential
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... #diagnosis #causes
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... - Causes progressive ... fasciculations Common Symptoms ... conditions listed in differential
Evaluation of Recurrent Falls Core Concept: Maintaining an upright posture requires the integrated function of multiple systems. Disruption in
Recurrent Falls Core ... cardiogenic) - Pulmonary ... presyncope, exertional symptoms ... positive Romberg sign ... Falls #Diagnosis #Differential
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis EPIDEMIOLOGY: PFAPA is the most common syndrome entailing
fever (FMF) PATHOPHYSIOLOGY ... : The exact cause ... DIFFERENTIAL DIAGNOSIS ... - Familial cold ... neutropenia (CyN) This genetic
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