10 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Pathophsiology ... in GBA1 gene Clinical ... involvement (type 2 and 3) ... #Diagnosis #Signs ... #Symptoms
Meralgia paresthetica: Pathogenesis and Clinical Findings
Compression/injury of Lateral Femoral Cutaneous Nerve (LFCN) -> Meralgia paresthetica
 •
Pathogenesis and Clinical ... spontaneous within 3- ... intervertebral disc disease ... MeralgiaParesthetica #MSK #pathophysiology ... differential #diagnosis #signs
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Signs of immunodeficiency ... may appear 3-9 ... humoral immunity Signs ... /Symptoms/Findings
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
symptoms/signs ... liver disease; ... dehydrogenase; NAFLD, non-alcoholic ... fatty liver disease ... mellitus; USS, ultrasound
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... of UMN and LMN signs ... both UMN and LMN signs ... EMG: LMN Signs in
Pseudogout: pathogenesis and clinical findings
 - Idiopathic (vast majority of cases) -> Mechanism unknown
 - Familial
pathogenesis and clinical ... high-resolution ultrasound ... Pseudogout #CPPD #Disease ... #Signs #Symptoms ... #Pathophysiology
Myasthenic Crisis Checklist - Myasthenia Gravis

Evaluation 
 - Chest X-ray and lung ultrasound (exclude other lung
X-ray and lung ultrasound ... or TSH level if symptoms ... monitoring (vital signs ... , clinical appearance ... capacity: Monitor 2-3
Alcohol Withdrawal: Clinical Findings and Complications
The onset of alcohol withdrawal generally begins 6-24 hours after the
: Clinical Findings ... withdrawals. 1/3 ... drink and lasts 2-3 ... #Pathophysiology ... #Diagnosis #Signs
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... Transverse Myelitis - Clinical ... • Bilateral signs ... and/or symptoms ... - More than 2/3
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
▪ Autoimmune diseases ... Clinical Presentation ... • Common Signs ... and Symptoms: ... Pathophysiology