Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four siblings and a parent in a single kindred had documented blood and marrow lymphocytosis during the past 18 to 20 years consistent with chronic lymphocytic leukemia (CLL). Of the four siblings, one developed a spontaneous remission; one died secondary to subepiglotitis with sepsis; one died with prolymphocytoid transformation and one remains alive with splenomegalic CLL. Lymphadenopathy and splenomegaly were variable as was the clinical response to chemotherapy. Bone marrow morphology was initially nodular but progessed to diffuse patterns in both deceased siblings. Blood lymphocyte morphology was extremely variable as were cell doubling times and cytogenetic studies. ABO and HLA typing revealed no evidence of linkage. Immunophenotypic analysis of the B lymphocytes demonstrated a CD19 +, CD20-, CD5 +, Leu8-, Kappa + and a CD19 +, CD20 +, CD5 +, Leu8 +, Kappa + monoclonal lymphocytosis in two affected members. An unaffected sibling showed a CD4 lymphocytosis. VHV and VHII gene sequences were previously described in this kindred (PNAS 84: 8563, '87). We speculate that a CD5 B cell and CD4 T cell lymphocytosis may arise early in this disease followed by the development of a pleomorphic, monoclonal lymphocytosis. The subsequent oligomorphic, monoclonal lymphocytosis shows genotypic, immunophenotypic and some morphological heterogeneity consistent with ongoing differentiation. The longitudinal investigation of familial CLL offers a unique opportunity to study the sequence of events related to the natural history of B-CLL.
...
PMID:A 20 Year Clinical and Laboratory Study of Familial B-Chronic Lymphocytic Leukemia in a Single Kindred. 2746 24

Minor blood group incompatibility due to blood groups other than Rh(D), although an uncommon cause of neonatal hyperbilirubinemia, has the potential to cause severe hyperbilirubinemia and its sequelae in infants, if left undiagnosed and untreated. Here, we describe clinical presentation, diagnosis and treatment of three cases of minor blood group incompatibility due to anti-E and anti-c antibody. All three neonates presented with pallor, icterus and splenomegaly within the first three days of life. Investigations showed indirect hyperbilirubinemia and a positive direct coombs test. Indirect coombs test was positive in the mothers. There was no setting of ABO or Rh(D) incompatibility in any of the neonates. When tested for minor blood group incompatibility, anti E antibody was found to be responsible for hemolysis and hyperbilirubinemia in the first case, and anti c antibody was found in the second case and third case had both anti c and anti E antibodies. While hyperbilirubinemia improved with intensive phototherapy in the first two cases, the third case required a double volume exchange transfusion. On follow up, bilateral sensorineural hearing loss was seen in one of the patients. All three neonates were otherwise healthy, gaining weight and developmentally normal.
 ...
PMID:Minor blood group incompatibility due to blood groups other than Rh(D) leading to hemolytic disease of fetus and newborn: a need for routine antibody screening during pregnancy. 3220 75


<< Previous 1 2