9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Loss of parental copy ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)

#PIMSTS #Pediatrics #Inflammatory #Multisystem #Syndrome #Peds #Signs
Pediatric Inflammatory ... Multisystem Syndrome ... associated with SARS-CoV ... #Multisystem #Syndrome ... #Peds #Signs #Symptoms
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... Associated Genetic Syndromes ... palliation • Post-Op ... #cardiology #peds ... #pediatrics #treatment
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... #Kawasaki #Disease ... #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... mutations - Down syndrome ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis ... #signs #symptoms
Cryptogenic Organizing Pneumonia - Illness Script

PATHOPHYSIOLOGY: Unknown trigger, reversible inflammatory/fibroproliferative process. Polypoid fibroblastic aggregates that plug
Illness Script PATHOPHYSIOLOGY ... Males=Females SIGNS ... steroids for severe disease ... TylerLarsenMD #COP ... Pneumonia #diagnosis #management
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Infection/Sepsis/Shock ... , Autoimmune disease ... Etiology: • Pathophysiology ... Neurological symptoms ... #diagnosis #management
TAFRO

TAFRO syndrome was first described in 2010, standing for:
- Thrombocytopenia
- Anasarca
- Fever
- Reticulin fibrosis
- Organomegaly

TAFRO syndrome
, Lyme disease, ... cell lymphoma Pathophysiology ... and the systemic symptoms ... levels - Increased CRP ... TAFRO #diagnosis #management