22 results
Simplified Diagnosis of Metabolic Disorders
#Diagnosis #Peds #Pediatrics #Inherited #Congenital #Metabolism #Metabolic #Diseases #Disorders #Ketones #Ammonia #Differential
Simplified Diagnosis ... #Diagnosis #Peds ... #Pediatrics #Inherited ... Metabolism #Metabolic #Diseases ... #Differential #Algorithm
Congenital Heart Disorders - Classification and Differential Algorithm

- Amy Chung, MD, MSc @AmyChung 

#Congenital #Heart #Disorders
Congenital Heart Disorders ... and Differential Algorithm ... #Diseases #Classification ... #Diagnosis #Peds ... #Pediatrics #Cardiology
Pediatric Mouth Disorders - Differential Diagnosis Algorithm
Teeth:
 • Teething
Painful - Gastrointestinal:
 • Crohn's Disease
 • Ulcerative
Pediatric Mouth ... Disorders - Differential ... Diagnosis Algorithm ... #Algorithm #Causes ... #Peds #Pediatrics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... complex storage diseases ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... Lysosomal storage disorder ... in GBA1 gene Clinical ... #Diagnosis #Signs
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
- Differential Diagnosis ... Algorithm Cardiac ... Congenital Heart Disease ... Neuromuscular • Disorders ... #Peds #Pediatrics
Lewy Body Dementia: Pathogenesis and Clinical Findings
Lewy Body Dementia is a sub-category of major or mild
Pathogenesis and Clinical ... neurocognitive disorders ... on severity of disease ... LewyBody #Dementia #pathophysiology ... #geriatrics #diagnosis
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 ... Hirsutism & acne • Infertility ... endocrinology #peds ... #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
While the pathophysiology ... despite severe disease ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics ... #Peds