17 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Pathophsiology ... in GBA1 gene Clinical ... Osteonecrosis, bone ... #Diagnosis #Signs ... #Symptoms
Striatal Toe Sign on Physical Examination

Extension of the first toe that occurs in extrapyramidal diseases affecting
Striatal Toe Sign ... AKA the Pseudo-Babinski ... sign as it occurs ... #Sign #clinical ... #video #PhysicalExam
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... While the pathophysiology ... despite severe disease ... #Meningitis #Clinical ... #Pediatrics #Peds
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 ... Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Plantar Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect of the
Plantar Reflex on Newborn ... extension of the great toe ... sign” is normal ... #PhysicalExam #clinical ... #video #peds #pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... rubbing • Atopic diseases ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign
Tone - Leg Traction on Physical Exam
Leg traction is done by holding the leg by the
Tone - Leg Traction ... on the leg is a sign ... #Newborn #PhysicalExam ... #clinical #video ... #peds #pediatrics
Electrolyte imbalances are common findings in many diseases. The kidney is a principally responsible organ for
findings in many diseases ... broad range of signs ... create a complex clinical ... presents with signs ... #electrolyte #algorithm
Primitive Suck, Rooting Reflex on Newborn Physical Exam 
The normal response to stroking the lateral aspect
extension of the great toe ... going toes or “Babinski ... sign” is normal ... #PhysicalExam #clinical ... #video #peds #pediatrics