10 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Syndrome Signs ... Incr Skeletal fractures ... • Obesity -> Type ... pathophysiology #peds #pediatrics
Cryoglobulinemia Summary

Cryoglobulins:
 • Cryoglobulins are Igs in the serum that precipitate in vitro at temperatures below
• They can cause ... Cryoglobulins Cause ... Labs/Diagnosis: ... #types #classification ... #rheumatology #
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
- Differential Diagnosis ... Rickets Dysmorphic Features ... • Prader-Willi ... endocrinology #causes ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup What type ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... Differential #Subtypes #Classification ... #Geriatrics #Workup
Leukostasis vs Tumor Lysis Syndrome
Leukostasis:
 • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
high WBC count cause ... WBC >100k, + lab signs ... worrisome EKG features ... #TLS #diagnosis ... #management #hematology
Cushing's Syndrome - Hypercortisolism - Diagnosis and Clinical Features
1) Skin
 • Thin, easily bruisable skin with
Cushing's Syndrome ... Hypercortisolism - Diagnosis ... , pathological fractures ... dehydrogenase type ... #signs #symptoms
Sjogren's Syndrome Overview

Epidemiology:
• F > M: 9:1
• 5-6th Decades (can be any age)

Autoimmune exocrinopathy multisystemic disease
Diagnosis: • Dry ... Hypocomplementemia • Can cause ... TYPE IV RTA, TYPE ... ducts Clinical Features ... #Rheumatology #
SLE (Systemic Lupus Erythematosus)

Suspect:
Clinical evidence of (fatigue, rash, photosensitivity, inflammatory arthritis, weight loss, and fever) and
Skin Disease Classification ... Differential Diagnosis ... Non-autoimmune rheumatologic ... Kikuchi disease • Type-I ... #Rheumatology
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
- Differential Diagnosis ... tract, and often causes ... purpura: strong sign ... #rheumatology # ... classification
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
hyperinflammatory syndrome ... caused by uncontrolled ... Types of HLH • ... Presentation • Common Signs ... #Management #Hematology