Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023418 (leukemia)
 93,477 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this paper, we report a family with compensated chronic haemolysis where the only erythrocyte abnormality detected was an increased level of erythrocyte CDP-choline. Using 31P-NMR spectroscopy and enzymatic analysis the possibility of a pyrimidine 5'-nucleotidase deficiency was excluded. Thus, this family represents the first evidence for a hereditary haemolytic anaemia where the inferred enzymatic defect is located to choline phosphotransferase, the enzyme catalysing the final step in lecithin synthesis. The family history indicates an autosomal dominant mode of transmission with incomplete penetrance.
Leukemia 1997 Aug
PMID:A family with chronic haemolysis and selective accumulation of erythrocyte CDP-choline. 926 95

The authors present a case of a 13-year-old girl with a history of congenital hemolytic anemia (spherocytosis) who developed acute lymphoblastic leukaemia. She received treatment according to the ALL-BFM 91 protocol standard risk group. During maintenance therapy an aplastic crisis caused by Parvovirus B 19 infection had developed. Chemotherapy was stopped in September 1999, and the patient remained in complete remission. In January, 2000 the patient presented with jaundice, caused by a stone in the ductus choledochus. Cholecystectomy and splenectomy were performed, and the the girl became symptomfree. The authors review the most frequent complications of congenital hemolytic anemias (aplastic crisis, haemolytic crisis and cholelithiasis). The occurrence of acute lymphoblastic leukaemia in a patient with congenital hemolytic anemia has not been previously reported.
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PMID:[Acute lymphoblastic leukemia in a patient with congenital hemolytic anemia: case report]. 1176 Apr 56

Hyper reactive malarial splenomegaly (HMS) is a relatively rare chronic complication of malaria. Previous name of the disease was Tropical splenomegaly syndrome (TSS). It is seen in endemic zone of malaria. In Bangladesh it is very rare. It is more prevalent in Africa, India, Sri Lanka, Thailand etc. It is due to abnormal immune response to malaria. Recently we got a typical case of HMS in our pediatric department of Community Based Medical College Hospital (CBMCH) Mymensingh. The patient, a seven years old boy came from Haluaghat, Mymensingh, which is a hyper endemic zone of malaria. The boy had history of repeated attack of malaria with huge chronic splenomegaly for five years. Antibody to malaria was positive & titer was markedly raised. Other causes of massive splenomegaly namely chronic Kala azar, Typhoid, congenital hemolytic anemia, Leukaemia, Lymphoma etc were excluded by laboratory examination. The boy was discharged with malaria prophylaxis for a long time & advised to come to our unit every month for further follow up.
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PMID:Hyper reactive malarial splenomegaly (HMS). 1687 6

Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus) infections. Congenital leukemia and infantile osteopetrosis (OP) are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of congenital leukemia are still rarer. Infantile OP, another rare disorder with a reported incidence of 1 in 250,000 has characteristic imaging features, which are diagnostic of the disease. We report a case each, of two rare diseases: Congenital leukemia and infantile osteopetrosis. Additionally, our report highlights the radiological and imaging features of congenital leukemia and infantile OP and their crucial role in arriving at an early diagnosis.
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PMID:Imaging diagnosis of neonatal anemia: report of two unusual etiologies. 2460 54