11 results
diagnosis management signs syndrome complications genetics pediatrics 21hydroxylasedeficiency 21ohd amyotrophic anorexianervosa barre benign bph bulimianervosa comatose disease encephalopathy endocrinology gbs
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... : • Gonadal hypoplasia ... Infertility • Decr Bone ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
gene mutated in all ... Retinoblastoma Signs ... partial retinal red reflex ... Retinoblastoma #pathophysiology ... #symptoms
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
cases Clinical Signs ... numbness, decreased reflexes ... Pathophysiology ... of bacilli to bone ... in ALL patients
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
• This is also ... adrenal hyperplasia ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds
The Neurological Evaluation of a Comatose Patient Definition: • Coma: a state of unresponsiveness; the absence of
• Mutism Pathophysiology ... horizontal movements; also ... Motor/Sensory: • Tone ... • Examine for signs ... #PhysicalExam #neurology
Benign Prostatic Hyperplasia: Pathogenesis and Clinical Findings Hormonal alterations (result of aging process) ->
Benign Prostatic Hyperplasia ... in transitional zone ... hormones, urine reflux ... #Prostate #Pathophysiology ... #Urology #Signs
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... Increased Jaw Jerk reflex ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
may precede the neurologic ... Transplantation including bone ... Etiology: • Pathophysiology ... Neurological symptoms ... edema visualized as
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
surgery, trauma, and bone-marrow ... depressed deep tendon reflexes ... after symptom onset ... the underlying pathophysiology ... diagnosis #management #neurology
Anorexia Nervosa: Complications CARDIAC ABNORMALITIES - Functional: Low BP, Sinus bradycardia, prolonged QT interval - Structural: Reduced
/ Hypovolemia NEUROLOGIC ... Osteoporosis - Low bone ... Complications #pathophysiology ... #diagnosis #signs ... #symptoms #psychiatry
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