Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Prerequisites for the evaluation of interethnic differences in response to drugs and toxicants are, first, the understanding of population characteristics in social and genetic terms, and second, the development and use of methods suitable for the pharmacological investigation of fair numbers of subjects. The term pharmacoanthropology is proposed to indicate an appreciation of the difficulties in assessing the causes of quantitative differences between populations, and to emphasize the medical and biological (rather than social or economical) nature of the enquiry. A few case histories are sketched to illustrate the scope of the subject. The classical cases of balanced polymorphism include, for instance, acetylation polymorphism, glucose-6-phosphate dehydrogenase deficiency, and sickle cell anemia. Interethnic differences in alcohol response exemplify a consequence of gross but unexplained differences in gene frequencies for two enzymes, i.e., alcohol and aldehyde dehydrogenases. There may be incidental associations of drug response with blood groups, HLA types, or other traits that differ between populations. Interethnic differences in the predominant nature of essential hypertension appear to illustrate an interaction between diet and genetic constitution, and the resulting patterns of pathology may cause differences in drug response. Clarification of scope and nature of interethnic differences will require many future investigations.
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PMID:Pharmacoanthropology: outline, problems, and the nature of case histories. 671 39

Continuous-flow blood fraction separators facilitate the efficient exchange of large volumes of plasma or red cells and therefore have clinical application in the rapid correction of abnormalities located predominantly in either of these compartments. Plasmapheresis has been successfully used in managing 2 patients with previously refractory myasthenia gravis, in reducing the antibody titre in a rhesus-sensitized woman, and in diminishing anti-A titre in a patient requiring bone marrow transplantation from an ABO-incompatible but HLA- and MLC-identical sibling. Continuous-flow red cell exchange effectively reduced the haemoglobin S concentration in an individual with sickle cell disease prior to general anaesthesia and abdominal surgery. Complications were not encountered although the procedures were carried out repetitively over prolonged periods of time. All 5 patients tolerated their exchanges without discomfort. As with any new and expensive technique, caution should attend the introduction of continuous-flow plasma or red cell exchange into clinical medicine. Careful evaluation of the safety and the benefits is needed to establish perspective and to distinguish between established and developmental indications.
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PMID:The role of continuous-flow blood fraction separators in clinical practice. 677 86

Three of five siblings developed a steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis within a four-month period. Two of the siblings with nephrotic syndrome (Patients 1 and 2) also have sickle cell anemia; the third (Patient 3) carries the thalassemia trait. The dizygotic twin brother of Patient 2 has sickle cell anemia, but does not have the nephrotic syndrome. The nephrotic syndrome of patient 1 was resistant to corticosteroid and cyclophosphamide therapy and she developed severe renal failure 14 months after onset. The nephrotic syndrome of Patients 2 and 3 was steroid resistant but was partially responsive to cyclophosphamide therapy. They have persistent proteinuria with mild elevation of serum creatinine concentration and hypertension 5 1/2 years after diagnosis. In this family, the nephrotic syndrome appeared unrelated to the specific hemoglobinopathy, HLA type or mixed lymphocyte culture responsiveness despite the similarity of the renal disease.
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PMID:Familial nephrotic syndrome and focal segmental glomerulosclerosis. 719 18

Seven of 21 patients with sickle cell anemia developed neurologic complications 5 to 243 days (median, 33 days) after allogeneic marrow transplantation. Among these 7 patients, indications for transplantation included either a past history of stroke (4 patients) or recurrent severe vaso-occlusive events (3 patients). All received marrow from an HLA-identical sibling after preparation with busulfan and cyclophosphamide, and in 4 patients with antithymocyte globulin. Five of 6 patients developing seizures received anticonvulsant and supportive treatment with resolution of neurologic abnormalities. Three patients experienced intracranial bleeding, which was fatal in two. Of the 14 patients free of neurologic complications, 4 patients had experienced stroke before transplantation. However, among all patients with prior stroke, the incidence of intracranial hemorrhage was 38% (3/8), whereas none of the 13 patients without prior stroke developed posttransplant intracranial bleeding (P = .026). We conclude that patients with sickle cell anemia are at increased risk for neurologic complications after marrow ablative therapy and that patients with prior stroke are at increased risk for intracranial hemorrhage. Transplantation of patients before the onset of overt stroke may reduce this risk.
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PMID:Neurologic complications after allogeneic marrow transplantation for sickle cell anemia. 779 50

The first meeting devoted specifically to BMT in children took place on Hilton Head Island, SC, in March 1994 and included detailed reviews of the role of BMT in the management of diseases for which it has been a subject of considerable controversy: haemoglobinopathies (thalassaemia and sickle cell disease), metabolic storage disorders and neuroblastoma. The results of BMT using marrow donors other than HLA-identical siblings were presented, including data from a number of centres on the outcome in children transplanted from mismatched family donors. Experience of the collection and transplantation of alternative sources of haemopoietic stem cells in the paediatric age group has accumulated rapidly in recent years. The results of transplantation of peripheral blood stem cells and of umbilical cord blood stem cells indicate that both approaches may soon replace BMT as first-line treatment for some malignant and non-malignant disorders in children. While gene therapy offers exciting prospects for the future, it was discussed here principally as treatment for ADA deficiency and is likely to remain a more distant, although exciting, therapeutic option for many diseases currently treated by BMT.
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PMID:Bone marrow transplantation in children: current results and controversies.Meeting, Hilton Head Island, SC, March 1994. 799 32

There have been few epidemiological studies of bone and joint diseases in black Africa. Available data were generated by hospital studies which were inevitably flawed by selection bias. They found that the incidence and/or severity of rheumatoid arthritis were reduced in West Africa but not in urban areas of Southern and East Africa, as compared with industrialized countries. Ankylosing spondylitis was infrequent. The human immunodeficiency virus epidemic can be expected to increase the prevalence of spondyloarthropathies despite the fact that few black Africans are HLA B27-positive. Gout was the most common inflammatory joint disease seen in inpatients in West Africa and Equatorial Africa. Osteoarthritis of the fingers or hip and dysplasia of the hip were infrequent. The main causes of hip symptoms were sickle cell anemia and hemoglobin C disease whose manifestations include bone necrosis, osteomyelitis, and attacks of bone and joint pain. Osteoarthritis of the knee was common in West and Southern Africa, especially in obese women. Low back pain and sciatica due to disc herniation were as common as in Europe. Lumbar canal stenosis appeared more common in West Africa than in Southern Africa, with a predominance in females. Postmenopausal osteoporosis was exceedingly rare. Infectious diseases were prevalent as a result of underindustrialization and defective hygiene. The paucity of rheumatologists, young mean age of the population, and scarcity of population-based studies are sources of bias which should be taken into account when interpreting the available data on rheumatological diseases in black Africa. In the future, more rigorous studies made possible by increased access to health care will provide improved insight into the semiology and epidemiology of bone and joint diseases in this area.
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PMID:[Rheumatic diseases in black Africa]. 812 80

Fifteen S/S children with severe SCD were transplanted with marrow from HLA identical siblings. All developed frequent (> 3/y) vaso-occlusive crises (VOC) associated with recurrent acute chest syndrome episodes (n = 10), osteitis (n = 3), osteonecrosis (n = 3), strokes (n = 3) or frequent massive deglobulisation (n = 2). Two children undergone splenectomy, two were chelated and two had an erythroid allo-immunization. Ethnic origins were from various countries in Africa (n = 11), North-Africa (n = 3) or West Indies (n = 1). At BMT, they were 2y 3m to 14y 9m old (mean: 8y 7m). Donors were AS (n = 11) or AA (n = 4). At first, various conditioning regimens were used consisting of busulfan (BU) plus Cyclophosphamide (CY) at different doses: CY:200 mg/kg (n = 13) or 260 mg/kg (n = 2); BU: 14 mg/kg (n = 1), 16 mg/kg (n = 9), > 16 mg/kg (n = 5); one patient received also TLI and the last two anti-thymoglobulin (ATG): 20 mg/kg. GVHD prophylaxis was CSA alone (n = 4) or CSA plus short-term MTX (n = 11). Median follow-up is 28 months (5 m to 53 m). All patients had an engraftment (d12 to d32) with a stable total chimerism in 10/14 patients. In the 4 others, partial chimerism was observed: one patient had a early and progressive rejection of his graft but is doing very well (35 m follow-up) without any manifestation of SCD, with a high stable 22% Hb F level.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Treatment of severe forms of sickle cell anemia with bone marrow allograft: French experience (15 cases). SFGM]. 833 53

Fourteen S/S children with severe SCD were transplanted with marrow from HLA identical siblings. All developed frequent (> 4/y) vasoocclusive crises (VOC) and recurrent acute chest syndrome episodes (n:10), osteitis (n:3), osteonecrosis (n:3), strokes (n:3) or frequent massive deglobulisation (n:2). Two children undergone splenectomy, 2 were chelated and 2 had erythroid allo-immunization. Ethnic origins were from various countries in Africa (n:10), North-Africa (n:3) or West Indies (n:1). At BMT, they were 2y 3m to 14y 9m old (mean:8y 7m). Donors were AS (n:11) or AA (n:3). At first, various conditioning regimens were used consisting of busulfan (BU) plus Cyclophosphamide (CY) at different doses: CY:200 mg/kg (n:12) or 260 mg/kg (n:2); BU:14 mg/kg (n:1), 16 mg/kg (n:9), > 16 mg/kg (n:4); 1 patient received also TLI and one other antithymoglobulin (ATG): 20 mg/kg. GVHD prophylaxis was CSA alone (n:4) or CSA plus short-term MTX (n:10). Median follow-up was 23 months (8 m. to 48 m.). All patients had an engraftment (d13 to d32) with a stable total chimerism in 10/14 patients who are cured. In the 4 others, partial chimerism was observed: one patient had a early and progressive rejection of his graft but is doing very well (28 m. follow-up) without any manifestation of SCD, with a high stable 22% Hb F level. One patient developed an aplastic anaemia 15 m after BMT: a second BMT was achieved 21 m after the first one with engraftment and total chimerism. Two patients have a relatively stable partial chimerism with still undergoing CSA therapy (11 m. and 23 m. follow-up).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Bone marrow transplantation (BMT) in 14 children with severe sickle cell disease (SCD): the French experience. GEGMO. 837 51

Two cases of ischemic stroke in children of Tunisian descent with sickle cell anemia are reported. Patients were aged 3 years and 14 years, respectively. Periodic partial exchange transfusions with sedimented red blood cells of identical phenotype prevented further episodes of ischemic stroke. Transplantation of HLA-identical bone marrow from a family member offers a chance of complete cure of the hemoglobin disorder in these children who are at risk of recurrent stroke.
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PMID:[Ischemic cerebrovascular accidents in homozygous sickle cell anemia. Two case reports]. 844 41

A legal moot (mock trial) was held in London in the Middle Temple Hall on Saturday 31 October 1992 to debate the place of BMT in sickle cell disease. The exact wording of the motion, which allowed a very full discussion to take place, was as follows: Bone marrow transplantation should forthwith be offered to all children in the UK with symptomatic sickle cell anaemia who have HLA compatible siblings.
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PMID:Sickle cell disease: the transplant issue. 848 73


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