56 results
Characteristic clinical manifestations of Down syndrome 
 
Typical craniofacial appearance 
 • Round face and flat
Characteristic clinical ... • Brushfield spots ... iris (pigmented spots ... • Hirschsprung disease ... PhysicalExam #Features #Signs
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... in GBA1 gene Clinical ... #Gauchers #Disease ... #Diagnosis #Signs
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... Brudzinski's sign ... While the pathophysiology ... despite severe disease ... #Meningitis #Clinical
Graves’ Disease: Pathogenesis and Clinical Findings
B & T lymphocyte mediated autoimmunity attack TSH receptor -> Continuous
Graves’ Disease: ... Pathogenesis and Clinical ... the etiology Signs ... GravesDisease #pathophysiology ... endocrinology #symptoms #signs
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Pott's Disease in ... extrapulmonary cases Clinical ... Signs/Symptoms: ... years - May have signs ... decreased reflexes Pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... Prader-Willi Syndrome Signs ... fractures • Short ... Syndrome #genetics #pathophysiology
Secondary Syphilis Rash
Secondary syphilis is the most contagious of all the stages of this disease, and
stages of this disease ... The signs and symptoms ... late stages of disease ... reddish brown spots ... Rash #Diagnosis #Clinical
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Alzheimer’s Disease ... Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia #pathophysiology ... geriatrics #diagnosis #signs
Primary Hyperthyroidism - Pathogenesis and Clinical Findings

Note: Although rare, gestational diseases can lead to thyrotoxicosis due
Pathogenesis and Clinical ... rare, gestational diseases ... Signs/Symptoms: ... endocrinology #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
Pathogenesis and clinical ... share the same pathophysiology ... Cardiovascular disease ... Overproduction #diagnosis #signs ... endocrinology #pathophysiology