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D Lind

Publications and source records attributed to D Lind.

11 recordsLinked to original sources
PubMed2004

Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens.

To develop an efficient strategy for mapping genetic factors associated with common diseases, we constructed linkage disequilibrium (LD) maps of human chromosomes 5, 7, 17, and X. These maps consist of common single nucleotide polymorphisms at an average intermarker distance of 100 kb. The genotype data from these markers in a panel of American samples of European descent were analyzed to produce blocks of markers in strong pair-wise LD. Power calculations were used to guide block definitions and predicted that high-level LD maps would be useful in initial genome scans for susceptibility alleles in case-control association studies of complex diseases. As anticipated, LD blocks on the X chromosome were larger and covered more of the chromosome than those found on the autosomes.

Black or African American↗
PubMed1997

Polymorphism of the LMP2 gene and disease phenotype in ankylosing spondylitis: no association with disease severity.

Although a number of reports have now described an association between polymorphism of the LMP2 gene and disease phenotype in HLA-B27 positive individuals with ankylosing spondylitis (AS), some describe associations with acute anterior uveitis, others with juvenile onset disease, and one report provides no association. A recent study describes yet a further association with disease severity in patients with juvenile rheumatoid arthritis. We therefore hypothesized that the discrepant findings in adult disease may be a reflection of an underlying association with disease severity. Our study population consisted of 100 HLA-B27 positive Caucasians with AS of ten or more years duration. Clinical assessment of disease severity was based on a metrology index scoring five measurements, the modified health assessment questionnaire for the spondyloarthropathies, and a disease activity index consisting of a visual analog scale to score the amount of pain, stiffness and fatigue. LMP2 genotypes were assigned following polymerase chain reaction amplification from genomic DNA and restriction enzyme digestion with CfoI. Despite confirmation of a significantly higher prevalence of the LMP2 BB genotype in AAU positive (66.0%) versus AAU negative (45.2%) patients (P < 0.05), we observed no association between LMP2 genotypes and any of the indices of disease severity. Furthermore, although a significant association was noted between the presence of peripheral synovitis and the functional index score (P < 0.05), a history of AAU was not associated with more severe disease. Our data is thus internally consistent in demonstrating no association between LMP2 genotypes and either disease severity or peripheral arthritis, and supports the notion that polymorphism of LMP2 primarily influences the development of AAU and not some other phenotype of AS.

Adult↗
PubMed1995

Autologous blood stem cell transplantation for haematological malignancy: treatment-related mortality of 2%.

BACKGROUND: Lengthy remission or cure has remained elusive for patients with many of the common haematological malignancies. Thus high dose chemotherapy followed by autologous haemopoietic stem cell transplantation is being increasingly utilised in these diseases. AIM: To assess the safety of high dose chemotherapy and autologous stem cell transplantation in haematological malignancy. METHODS: Forty-eight patients with haematological malignancy were given high dose chemotherapy followed by an infusion of previously cryopreserved autologous peripheral blood stem cells with (patients with acute myeloid leukaemia [AML]) or without (patients with acute lymphoblastic leukaemia [ALL], chronic myeloid leukaemia, non-Hodgkin's lymphoma, Hodgkin's disease and myeloma) autologous bone marrow. RESULTS: All patients except one had sustained engraftment. The median (range) number of days to attain a neutrophil count of 0.5 x 10(9)/L was 12 (10-42) and a platelet count of 20 x 10(9)/L unsupported by platelet transfusions was 15 (eight to 155). Other than oropharyngeal mucositis and febrile neutropenia, morbidity was low. Two patients had haemorrhagic cystitis, one hepatic veno-occlusive disease and one interstitial pneumonitis; all resolved. The treatment-related mortality was 2%--a single patient with AML died of failure of sustained engraftment. CONCLUSIONS: Autologous blood stem cell transplantation to support high dose chemotherapy is a relatively safe procedure and its efficacy is currently being explored in a wide range of haematological malignancies.

Acute Disease↗
PubMed1994

Prevalence of fra(X) in the county of Funen in Denmark is lower than expected.

Population based cytogenetic fra(X) surveys have not previously been reported from Denmark. In the present study we present an estimate of fra(X) based on 1) information from the Danish Central Cytogenetic Registry of diagnosed fra(X) males of all age groups in all Denmark in the period 1980-1992 and 2) a systematic cytogenetic fra(X) survey of 175 of 8-10-year-old children with special educational needs resident in a defined, demographically representative area of Denmark (the county of Funen). The study was performed in 1988-90 before the cloning of the FMR-1 gene. In the county of Funen there were 7,837 male children in the age group of 8-10 years. In the cytogenetic survey of learning disabled children, no fra(X) positive was diagnosed. There were 99 registered males with fra(X) in all Denmark, equivalent to a prevalence of 0.04 per 1,000 males (confidence interval 0.032:1,000-0.048:1,000). Molecular fra(X) surveys of different, large populations are needed in order to estimate the frequency of fra(X) and clarify whether significant differences in prevalence exist in different populations.

Child↗
PubMed1977

Marrow culture studies in adult acute leukemia at presentation and during remission.

Culture of bone marrow and/or blood cells in a semisolid agar system from 43 adults with acute nonlymphoblastic leukemia at first presentation showed two distinct growth patterns at 14 days. In 53% of patients cells failed to grow (type O), while in the remainder an abnormal growth pattern (type B) with small numbers of diffuse colonies and excessive numbers of cell clusters was seen. The response following chemotherapy was significantly better in the patients whose cells failed to grow. Serial culture studies, performed in 9 patients throughout remissions of 100-1112 days, which had been maintained by intermittent chemotherapy, showed wide fluctuations in proliferative activity. These ranged from no growth to marked proliferation with predominance of clusters and small numbers of diffuse colonies, indistinguishable from the type B pattern seen in 47% of patients at first presentation. The possibility is discussed that the periods of failure to grow, and/or those in which a type B pattern emerged, represented sporadic reactivation of leukemic cells.

Adolescent↗