65 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... pathophysiology #peds #pediatrics
Initial Clinical and Laboratory Data Base for Defining Major Syndromes in Nephrology

#Major #Syndromes #Nephrology #Diagnosis #Workup
Initial Clinical ... in Nephrology ... #Major #Syndromes ... #Nephrology #Diagnosis ... #Differential #Table
Effects of Strokes by Location - Anterior vs Posterior Localization

Anterior Circulation 
 - MCA 
 -
Artery #Strokes #Syndromes ... Territory #Symptoms #Signs ... #Diagnosis #Table ... Comprehensive Review in Clinical ... Neurology - https
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... Early diagnosis ... #Kawasaki #Disease ... #Features #Signs ... #Peds #Pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)
Clinical features
all: fever > 101.3 F
most: oxygen
Pediatric Inflammatory ... Multisystem Syndrome ... infection (PIMS-TS) Clinical ... #coronavirus #diagnosis ... #Signs #Symptoms
Parinaud's Syndrome
What?
 - Impaired upgaze
 - Light-near dissociation
 - Convergence retraction nystagmus
 - Eyelid retraction (Collier's
Parinaud's Syndrome ... → "setting sun sign ... " - Vascular disease ... #diagnosis #pineal ... #neurology
Parinaud's syndrome
What?
 • Light-near dissociation (tectal pupils)
 • Convergence retraction nystagmus
 • Eyelid retraction (Collier's sign)
Parinaud's syndrome ... retraction (Collier's sign ... "setting sun" sign ... • Vascular disease ... #neurology #diagnosis
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
Optica (NMO) - Clinical ... (AQP4-lgG disease ... Manifestations #diagnosis ... #neurology #symptoms ... #signs
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... mutations - Down syndrome ... chromosome 21) Signs ... #diagnosis #signs
Korsakoff Syndrome
Clinical Findings:
 • Confabulation: Usually initial phase of the disease
 • Anterograde amnesia: Memory impairment
Korsakoff Syndrome ... Clinical Findings ... initial phase of the disease ... Therefore, Korsakoff Syndrome ... #neurology #diagnosis