12 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 ... Incr Skeletal fractures ... • Short stature
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... Demyelinating syndromes ... pain (20%) Renal disease ... erythematosus #signs ... #symptoms #diagnosis
Ankylosing Spondylitis: Pathogenesis and Clinical findings
 • Pain in lumbar area and gluteal region: (Dull, insidious
Pathogenesis and Clinical ... more constant as disease ... bamboo spine) -> Fracture ... pathophysiology #diagnosis #signs ... #symptoms
Paget’s Disease: Pathogenesis and Clinical Findings

 • Incr serum CTx - marker of bone resorption
 •
Paget’s Disease: ... Pathogenesis and Clinical ... , kyphosis and fractures ... pathophysiology #diagnosis #signs ... #symptoms
Characteristic clinical manifestations of Down syndrome 
 
Typical craniofacial appearance 
 • Round face and flat
Characteristic clinical ... • Brushfield spots ... iris (pigmented spots ... #PhysicalExam # ... Features #Signs
Cushing's Syndrome - Hypercortisolism - Diagnosis and Clinical Features
1) Skin
 • Thin, easily bruisable skin with
Diagnosis and Clinical ... , pathological fractures ... /or MRI of the skull ... Hypercortisolism #Diagnosis #signs ... #symptoms #endocrinology
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
neurological lesion: Clinical ... and signs below ... compression by fractured ... , Scleroderma, Systemic ... MCTD, Sjogren syndrome
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
neurodegenerative disease ... central nervous system ... • Or brainstem syndromes ... Signs and symptoms ... stimulation Clinical
SLE (Systemic Lupus Erythematosus)

Suspect:
Clinical evidence of (fatigue, rash, photosensitivity, inflammatory arthritis, weight loss, and fever) and
SLE (Systemic Lupus ... ) Suspect: Clinical ... Clinical Features ... • Malar rash - spares ... Induced Lupus: • Symptoms
Celiac Disease - Clinical Manifestations
Gastrointestinal Manifestations: 
 • Diarrhea, Loose stools, Dyspepsia, Flatulence, Chronic abdominal pain,
Celiac Disease - ... Clinical Manifestations ... ulceration • Short ... Osteoporosis, Bone fractures ... #signs #symptoms