30 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... in GBA1 gene Clinical ... Osteonecrosis, bone ... #Diagnosis #Signs
Hemophagocytic Lymphohistiocytosis (HLH)
Pathophysiology: Triggering factor (infection,...)→Activation of CD8 T cells (IFN-y) → Excessive activation of macrophages
Lymphohistiocytosis (HLH) Pathophysiology ... accumulation of clinical ... , Biological + Bone ... /ml, ↑ LDH • Bone ... treatment #summary #rheumatology
Macrophage Activation Syndrome (MAS)
Classified among the secondary or acquired forms of haemophagocytic lymphohistiocytosis (sHLH)

What?
A subset of
fever syndromes Clinical ... Fever is the main clinical ... Activation #Syndrome #Diagnosis ... #Management #Hematology ... #Rheumatology
Low Alkaline Phosphatase - Hypophosphatasia 

Is Low Alkaline Phosphatase Of Clinical Importance?

ALP enzyme- Discovered in 1923
Low
Phosphatase Of Clinical ... Malnutrition • Wilson's disease ... collection with EDTA Pathophysiology ... Hyophosphatasia #hepatology ... #diagnosis
SAPHO Syndrome Summary

What?
SAPHO syndrome is a rare chronic inflammatory disorder of bone, joint, and skin characterized
Rheumatic pain Clinical ... : • A clinical ... diagnosis • Rule ... osteoarticular and skin disease ... SAPHO #Syndrome #Rheumatology
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... pain (20%) Renal disease ... erythematosus #signs ... #symptoms #diagnosis ... #rheumatology
Pott's Disease in Tuberculosis - Diagnosis and Management Summary
Epidemiology:
 - Typically from TB endemic areas
 -
Pott's Disease in ... extrapulmonary cases Clinical ... Signs/Symptoms: ... decreased reflexes Pathophysiology ... of bacilli to bone
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... age, however the disease ... : HLH signs and ... Hemophagocytosis in bone ... management #treatment #hematology
Abnormal liver function tests algorithm.
 This figure details the initial response to abnormal liver blood tests.
symptoms/signs ... Areas of diagnostic ... alcohol-related liver disease ... non-alcoholic fatty liver disease ... Abnormal #Algorithm #Hepatology
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
Erythematosus (SLE) Clinical ... Cerebrovascular Disease ... , PRES Pathophysiology ... permeability Diagnosis ... CNS #neurology #rheumatology