18 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
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
Striatal Toe Sign on Physical Examination

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

Brudzinski's sign is characterized
While the pathophysiology ... despite severe disease ... Video by Dr. ... #Meningitis #Clinical ... #Pediatrics #Peds
Electrolyte imbalances are common findings in many diseases. The kidney is a principally responsible organ for
findings in many diseases ... and symptoms, from ... coexistence of one ... create a complex clinical ... #electrolyte #algorithm
Tone - Leg Traction on Physical Exam
Leg traction is done by holding the leg by the
on the leg is a sign ... Lower #Extremity #tone ... #Newborn #PhysicalExam ... #clinical #video ... #peds #pediatrics
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
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... epidemiology of this disease ... history of the disease ... /Symptoms/Findings ... Agammaglobulinemia #XLinked #pathophysiology