9 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
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
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
- Differential Diagnosis ... pattern of spread, B symptoms ... Amy Chung, MD, MSc ... Classification #pathophysiology ... #Hematology #Diagnosis
Scurvy (Vitamin C Deficiency) - Diagnosis and Management

Vitamin C is required for hydroxylation of proline residues
Deficiency) - Diagnosis ... poor nutrition Clinical ... musculoskeletal symptoms ... Psychiatric symptoms ... nonimmune hemolysis MSK
Acute Otitis Media: Pathogenesis and Clinical Findings (in Children)
Upper Respiratory Tract Infection: 
 - Bacterial: Streptococcus
Pathogenesis and Clinical ... #OtitisMedia #pathophysiology ... #diagnosis #symptoms ... #signs #peds #pediatrics
Adhesive Capsulitis (Frozen Shoulder) - Pathogenesis and Clinical Findings

 • Primary (Idiopathic): Unknown etiology, but associated
Pathogenesis and Clinical ... with autoimmune disorders ... FrozenShoulder #pathophysiology ... #diagnosis #symptoms ... stages #staging #msk
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... bouts of HTN Diagnostic ... Bilateral signs and/or symptoms ... Transverse Myelitis Diagnosis
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Pathogenesis and clinical ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
Helpful Clinical Features in Evaluating Bleeding Disorders
Age of onset
 • Neonate - in 20% of haemophilias,
Helpful Clinical ... Evaluating Bleeding Disorders ... #History #peds ... #pediatrics #diagnosis ... #hematology #primarycare