89 results
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... involved in B cell maturation ... BTK -> Impaired maturation ... antibodies) -> Complete deficiency ... immunity Signs/Symptoms
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Pathogenesis and Clinical ... paresthetica • Symptoms ... 3-6 months of symptom ... mass Sensory Symptoms ... MeralgiaParesthetica #MSK
Stress Fracture: Pathogenesis and clinical findings
Abnormal biomechanics, Repetitive impact activities
=> Repetitive subthreshold mechanical loading
=> Bone strain
=>
Pathogenesis and clinical ... StressFractures #msk ... pathophysiology #symptoms
Clinically Important Vitamins and Vitamin Deficiency States
Fat-soluble Vitamins: 
 • Vitamin A - Xerophthalmia, night blindness,
Clinically Important ... Vitamins and Vitamin Deficiency ... #Vitamins #Deficiency ... diagnosis #signs #symptoms
Patellofemoral Syndrome - Pathogenesis and clinical findings
 • Anterior Knee Pain with possible symptoms of 'catching'
Pathogenesis and clinical ... with possible symptoms ... diagnosis #signs #symptoms ... #msk
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
21-Hydroxylase Deficiency ... Pathogenesis and Clinical ... amount of enzyme deficiency ... Signs/Symptoms/Complications ... non-arousable, decr urine output
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
storage disorder • Deficiency ... in GBA1 gene Clinical ... Diagnosis #Signs #Symptoms
Thiamine Deficiency - Differential Diagnosis Framework and Clinical Manifestations

Causes of Thiamine Deficiency:
 • Poor intake:
	- Diets
Thiamine Deficiency ... Framework and Clinical ... Causes of Thiamine Deficiency ... Beri: - High output ... Tachycardia - High output
Clinical features of shock from dehydration in an infant

Decreased level of consciousness 
Sunken fontanelle 
Dry mucous
Clinical features ... Reduced urine output ... PhysicalExam #Signs #Symptoms
Pivot-Shift Test in ACL-deficient Knee

This patient has pathologic varus alignment across the knee and a chronic
Pivot-Shift Test in ACL-deficient ... Injury #ACLTear #clinical ... Sports #Ortho #msk