15 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... /Complications: ... #genetics #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings
 • Sporadic mutation -> One allele of RB1 tumor suppressor gene
Pathogenesis and clinical ... Retinoblastoma Signs ... / Symptoms / Complications ... Retinoblastoma #pathophysiology ... #symptoms
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... • Down, Turner ... , Marfan syndromes ... / Symptoms / Complications ... #Keratoconus #pathophysiology
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... mutations - Down syndrome ... / Symptoms / Complications ... AlzheimersDisease #Dementia #pathophysiology ... #symptoms
Kawasaki Disease: Clinical Findings
Diagnostic Criteria - Fever and 4/5 of the following:
 • Conjunctivitis
 • Polymorphous
Kawasaki Disease: Clinical ... hands & feet Signs ... /Symptoms/Complications ... #Diagnosis #Pathophysiology ... #Signs #Symptoms
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... resolve by 72 hours Complications ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Pituitary Mass Effects - Pathogenesis and Clinical Findings
 • Pituitary turnors are almost always a benign
Pathogenesis and Clinical ... • Pituitary turnors ... Signs / Symptoms ... / Complications ... mnemonic #GLFTAP #pathophysiology
Refeeding Syndrome Overview

What Is It?
	• Electrolyte/fluid shifts caused by initiation of nutrition in severely malnourished patient.
may cause severe clinical ... complications. ... overload) Other Symptoms ... • Tumor-induced ... Differential #Diagnosis #Pathophysiology
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
• Or brainstem syndromes ... Signs and symptoms ... McDonald diagnostic criteria ... patients with clinically ... stimulation Clinical
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds