Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Data Linkage”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 631 records · Page 35Linked to original sources
PubMed2001

State welfare reform policies and maternal and child health services: a national study.

OBJECTIVES: Welfare reform (Personal Responsibility and Work Opportunity Reconciliation Act of 1996) resulted in dramatic policy changes, including health-related requirements and the administrative separation of cash assistance from Medicaid. We were interested in determining if changes in welfare and health policies had had an impact on state MCH services and programs. METHODS: We conducted a survey in fall 1999 of state MCH Title V directors. Trained interviewers administered the telephone survey over a 3-month period. MCH directors from all 50 states, Washington, DC, and Puerto Rico participated (n = 52; response rate = 100%). RESULTS: Among the most noteworthy findings is that similar proportions of respondents reported that welfare policy changes had either helped (46%) or hindered (42%) the agency's work, with most of the positive impact attributed to increased funding. MCH data linkages with welfare and other social programs were low. Despite welfare reform's emphasis on work, limited services and exemptions were available for mothers with CSHCN. Almost no efforts have been undertaken to specifically address the needs of substance abusers in the context of new welfare policies. CONCLUSIONS: Few MCH agencies have developed programs to address the special needs of women receiving TANF who either have health problems themselves or have children with health problems. Recommendations including increased MCH and family planning funding and improved coordination between TANF and MCH to facilitate linkages and services are put forth in light of reauthorization of PRWORA.

Adolescent↗
PubMed2003

Risk of hepatocellular carcinoma and habits of alcohol drinking, betel quid chewing and cigarette smoking: a cohort of 2416 HBsAg-seropositive and 9421 HBsAg-seronegative male residents in Taiwan.

OBJECTIVES: Hepatitis B virus (HBV) is a major cause of hepatocellular carcinoma (HCC) in the world. The specific aim of this study is to assess the associations between the risk of HCC and habits of alcohol drinking, betel quid chewing and cigarette smoking among subjects with and without chronic HBV infection. METHODS: A total of 11,837 male residents in Taiwan were recruited in this community-based cohort study. Hepatitis B surface antigen (HBsAg) and antibody against hepatitis C virus (anti-HCV) in serum were determined by enzyme immunoassay, and the habits of alcohol drinking, betel quid chewing and cigarette smoking were collected through standardized personal interview according to a structured questionnaire. During the follow-up period of 91,885 person-years, 115 incident HCC cases were identified through data linkage with national cancer registry profile. The relative risk (RR) of developing HCC for habits of various substance use and chronic HBV infection were estimated by Cox's proportional hazards regression analyses. RESULTS: Significantly increased HCC risk was observed for seropositives of HBsAg or anti-HCV, alcohol drinkers, betel quid chewers and cigarette smokers. There was a significant dose-response relationship between the risk of HCC and the number of habits of substance use. The highest multivariate-adjusted HCC risk was observed among HBsAg-seropositive substance users (RRs: 17.9-26.9), followed by HBsAg-seropositive non-users (RRs: 13.1-19.2), HBsAg-seronegative substance users (RRs: 1.6-2.7) and HBsAg-seronegative non-users (referent with RR = 1). The multivariate-adjusted relative HCC risks for habits of use of various substances were more profound among HBsAg-seronegatives than HBsAg-seropositive ones. CONCLUSION: Habitual alcohol drinking, betel quid chewing and cigarette smoking are associated with an increased risk of HCC. Abstinence from substance use is important for the prevention of HCC in areas where chronic HBV infection is endemic.

Adult↗
PubMed2003

Adolescent self-poisoning: a cohort study of subsequent suicide and premature deaths.

Previous self-harm has been identified as a risk factor for subsequent suicide by adolescents. The objective of the study was to identify further risk factors for subsequent premature death and suicide in a population of adolescents presenting with self-poisoning. A longitudinal cohort design using data-linkage of consecutive adolescent patients presenting to the Hunter Area Toxicology Service, a regional toxicology service for Newcastle, Australia, with the National Death Index of the Australian Institute of Health and Welfare was used. A total of 441 adolescents aged 10 to 19 years presented with self-poisoning over 5 years from January 1991 to December 1995, with follow-up to March 2001. There were 14 deaths total, eight of which were likely suicides. There was a 22-fold increase in suicide rate for males and a 14-fold increase for females compared with age-normalized population rates. Adjusted hazard ratios (95% CI) forpremature death were male gender 3.77 (1.11-12.78), nonaffective psychotic disorders 16.3 (3.83-69.34) and the mental illnesses of childhood 6.12 (1.68-22.23). There was a similar pattern for suicide: Male gender, nonaffective psychotic disorders, and the mental illnesses of childhood confer greater risk for subsequent suicide or premature death in this population.

Adolescent↗
PubMed1991

Partial sequence of a candidate gene for the Marfan syndrome.

Fibrillin is a large (relative molecular mass 350,000) glycoprotein which can be isolated from fibroblast cell cultures and is a component of the microfibrils that are ubiquitous in the connective tissue space. The microfibrils of the suspensory ligament of the lens as well as the elastic fibre microfibrils of the blood vessel wall are composed of fibrillin. The ocular and cardiovascular manifestations of the Marfan syndrome are consistent with a defect in the gene coding for a structural constituent of these connective tissues. Immunohistological experiments have recently implicated fibrillin microfibrils in the pathogenesis of the Marfan syndrome. Genetic linkage data localizing the Marfan gene to chromosome 15 and the in situ hybridization of fibrillin complementary DNA to 15q21.1 together support fibrillin as a candidate Marfan gene. As a first step towards investigating the function of fibrillin in the architecture and development of connective tissues and its relationship to the Marfan syndrome, we report the cloning and partial sequencing of fibrillin cDNA.

Amino Acid Sequence↗
PubMed1994

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.

The human DNA mismatch repair gene homologue hMSH2, on chromosome 2p is involved in hereditary non-polyposis colon cancer (HNPCC). On the basis of linkage data, a second HNPCC locus was assigned to chromosome 3p21-23 (ref. 3). Here we report that a human gene encoding a protein, hMLH1 (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23. We propose that hMLH1 is the HNPCC gene located on 3p because of the similarity of the hMLH1 gene product to the yeast DNA mismatch repair protein, MLH1, the coincident location of the hMLH1 gene and the HNPCC locus on chromosome 3, and hMLH1 missense mutations in affected individuals from a chromosome 3-linked HNPCC family.

Adaptor Proteins, Signal Transducing↗
PubMed1988

Cancer risk and occupational exposure to aflatoxins in Denmark.

A study of cancer risk among male employees at 241 livestock feed processing companies in Denmark was conducted on the basis of a data linkage system for detailed investigation of occupational cancer providing employment histories back until 1964, established at the Danish Cancer Registry. Crops imported for feed production have often been contaminated with highly variable concentrations of aflatoxins; an estimated average concentration of at least 140 micrograms aflatoxin B1 kg-1 prepared mixed cattle feed prevailed in the past, yielding a daily intake for workers via the respiratory route of approximately 170 ng. Risk was established on the basis of cancer cases among male workers, whose employment in one of the companies was the job they had held for the longest time since 1964. Elevated risks for liver cancer and for cancers of the biliary tract were observed, which increased by two- to three-fold significance after a 10-year latency. Exposure to aflatoxins in the imported crops was judged to be the most probable explanation for these findings, although the influence of lifestyle factors, e.g. alcohol consumption on the results cannot be fully disregarded. Increased risks for salivary gland tumours and multiple myeloma were also detected. However, due to multiple comparisons carried out in this study these new associations must await further confirmation. A decreased risk for lung cancer was observed; despite possible negative confounding due to the smoking habits of the employees, the lung does not seem to be a target organ for the carcinogenic effect of inhaled aflatoxins in humans.

Adult↗
PubMed1994

Localization of a gene causing cystinuria to chromosome 2p.

Cystinuria is an autosomal recessive disorder of amino acid transport. It is a common hereditary cause of kidney stones worldwide, and is associated with significant morbidity. In 17 affected families, we found linkage between cystinuria and three chromosome 2p markers. Maximal two-point lod scores between cystinuria and D2S119, D2S391 and D2S288 were 8.23 (theta = 0.07), 3.73 (theta = 0.15) and 3.03 (theta = 0.12), respectively. Analysis of recombinants and multipoint linkage data indicated that the most likely order is cen-D2S391-D2S119-cystinuria-D2S177-tel. We also observed high rates of homozygosity for markers in this chromosomal region among 11 affected offspring of consanguineous marriages. Based on its map position and function, the recently cloned SLC3A1 amino acid transporter gene is a primary candidate gene for this disease.

Amino Acid Transport Systems, Basic↗
PubMed2002

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the function of IRF6 is unknown. The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMIM 119300) locus at chromosome 1q32-q41 (refs 2,3). The disorder is an autosomal dominant form of cleft lip and palate with lip pits, and is the most common syndromic form of cleft lip or palate. Popliteal pterygium syndrome (PPS; OMIM 119500) is a disorder with a similar orofacial phenotype that also includes skin and genital anomalies. Phenotypic overlap and linkage data suggest that these two disorders are allelic. We found a nonsense mutation in IRF6 in the affected twin of a pair of monozygotic twins who were discordant for VWS. Subsequently, we identified mutations in IRF6 in 45 additional unrelated families affected with VWS and distinct mutations in 13 families affected with PPS. Expression analyses showed high levels of Irf6 mRNA along the medial edge of the fusing palate, tooth buds, hair follicles, genitalia and skin. Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia.

Animals↗
PubMed1999

Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families.

Most of the hereditary breast cancers are attributed to constitutive alterations of either BRCA1 or BRCA2 genes; nonetheless, germline mutations of these genes in 'high risk' families are found less frequently than expected from linkage data. Recent findings suggest that major genomic rearrangements of the BRCA1 gene might account for at least some of the apparently mutation negative cases. We studied 60 affected probands belonging to families with a strong history of breast and/or ovarian cancer who scored negative for BRCA1 gene mutations by PTT and SSCP analysis. DNA was analysed by the Southern blotting procedure using three different restriction enzymes, and two probes obtained by RT-PCR of the 5' and 3' BRCA1 coding sequence. A 3 kb deletion encompassing exon 17 and causing a frameshift mutation was identified in two independently ascertained families. RT-PCR and long-range DNA PCR were employed to characterize the rearrangement that was finally shown to be the result of a recombination between two very similar Alu repeats. This type of mutation is not identified by the conventional methods of mutation detection which are based on PCR amplification of single exons. Therefore, further search for gene rearrangements is needed to better define the proportion of 'high risk' families that might be explained by gross genomic alterations of the BRCA1 gene.

Alu Elements↗
PubMed2002

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

Genetic linkage data have shown that alterations of the BRCA1 gene are responsible for the majority of hereditary breast-ovarian cancers. However, BRCA1 germline mutations are found much less frequently than expected, especially as standard PCR-based mutation detection approaches focus on point and small gene alterations. In order to estimate the contribution of large gene rearrangements to the BRCA1 mutation spectrum, we have extensively analysed a series of 120 French breast-ovarian cancer cases. Thirty-eight were previously found carrier of a BRCA1 point mutation, 14 of a BRCA2 point mutation and one case has previously been reported as carrier of a large BRCA1 deletion. The remaining 67 cases were studied using the BRCA1 bar code approach on combed DNA which allows a panoramic view of the BRCA1 region. Three additional rearrangements were detected: a recurrent 23.8 kb deletion of exons 8-13, a 17.2 kb duplication of exons 3-8 and a 8.6 kb duplication of exons 18-20. Thus, in our series, BRCA1 large rearrangements accounted for 3.3% (4/120) of breast-ovarian cancer cases and 9.5% (4/42) of the BRCA1 gene mutation spectrum, suggesting that their screening is an important step that should be now systematically included in genetic testing surveys.

Adult↗
PubMed1998

Mapping susceptibility genes for asthma and allergy.

Using family data, linkage analysis has been performed to determine the location in the genome of susceptibility genes for allergy and asthma. It has now become clear that there are multiple regions of the genome that contain susceptibility genes for allergy and asthma. The results from two genome screen studies will be reviewed and compared with results from candidate gene approaches. Results from several studies show evidence for linkage to chromosomes 5, 6, 11, 12, 13 and 14 for atopy, asthma or a related phenotype such as total serum IgE levels. Many of these regions contain candidate genes involved in regulating processes that may be involved in the development or progression of allergy and asthma. Some susceptibility genes may affect the expression of these disorders while others may affect response to therapy. Susceptibility to developing allergy or asthma appears to be due to the interaction of multiple genes with the environment.

Asthma↗
PubMed2002

A description of an intermediate care service using routinely collected data.

Background Intermediate care is a potentially important means of reducing pressures on acute hospitals. However, intermediate care itself is a heterogeneous concept, so to make appropriate comparisons it is important to be able to describe and to group different types of intermediate care services. The aim of this study was to explore the information available from routine data sources to assess its potential for monitoring performance. Methods A retrospective examination of routine community-based data for a newly established intermediate care nursing service over a 12-month period from April 1998 to March 1999. Results The service provided out-of-hours community nursing care for 903 patients in 1071 episodes of care and 6033 recorded contacts. Although information about patient characteristics and episode start-dates were complete, over half the episode end-dates were missing. The data suggested that this was primarily a domiciliary service for people aged 65 years and over, covering six main care programmes: genito-urinary, neoplasm, wound management, elderly care, gastro-intestinal and locomotor care. Most of the referrals were from primary care clinicians. Conclusion Using routine data can provide a reasonably good description of services, enabling appropriate comparisons of similar services. At present, the way we view and count activity can fragment services and increase the stress on clinicians. We need to shift our service-focused approach to a patient-centred one. This can be done now by consistent use of patient identifiers and by encouraging services to plan data linkage. But a gap still remains with regards to outcomes, limiting our ability to measure effectiveness.

Adolescent↗
PubMed1998

A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.

Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology. Ultrastructural studies suggest a defect in filament structure in the cortex of the hair, and the hard keratins of hair and nail are thus candidate genes. In several families with autosomal dominant monilethrix, the disorder has been linked to the type II keratin gene cluster at chromosome 12q13. Recently, causative mutations in the critical helix termination motif in the 2B domain of the human hair basic keratin 6 (hHb6) have been identified. We now report the results of sequencing this domain in 13 unrelated families or cases with monilethrix. Five of the 13 had the same mutation as previously found, a G to A transversion leading to a lysine for glutamic acid substitution (E413K) in the 2B domain (residue 117 of the 2B helix) of hHb6. The mutation was confirmed by a restriction fragment length polymorphism assay developed for this purpose, and, as this mutation is evidently a common cause of the syndrome, for use in screening other cases. In eight families or cases, however, including three in whom linkage data are consistent with a defect at the type II keratin locus, no mutation was found in this domain of hHb6.

Family Health↗
PubMed2002

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. Our results considerably narrow the Naegeli-Franceschetti-Jadassohn syndrome gene region from 27 cM to 6 cM flanked by D17S933 and D17S934 with a maximum multipoint LOD score of 2.7 at marker locus D17S800. In addition, we studied a small family with dermatopathia pigmentosa reticularis, and our linkage data suggest that dermatopathia pigmentosa reticularis may map to the same chromosomal region. The Naegeli-Franceschetti-Jadassohn syndrome critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes. We scrutinized 13 new prime candidates in addition to five genes previously examined, established the genomic organization of 10 of these genes, and excluded all of them by mutation analysis. Moreover, we identified a cDNA (KRT24) encoding a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile. No pathogenic mutations were identified in this novel gene either, however. In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues.

Amino Acid Sequence↗
PubMed2000

Hierarchical cluster analysis as an approach for systematic grouping of diet constituents on basis of fatty acid, energy and cholesterol content: application on consumable lamb products.

The role of dietary fat in the etiology of chronic diseases is both a qualitative and a quantitative issue. The dietary fat intake is largely influenced by behavioral and social influences on food choice. Ongoing scientific research has led to dietary recommendations with main concerns being the percentage of saturated, essential fatty acids and cholesterol with respect to total energy intake. However, the compositional complexity of food choice constituting the diet is a critical concept complicating the interpretation of epidemiologic, clinical and laboratory evidence to define the role of dietary fat in the etiology of diseases. This study was conducted on the observation of the need to better systematically classify consumable food based on complex composition and lamb meat is randomly selected as a non-specific subset for application of hierarchical cluster analysis method to obtain the dendogram using average linkage. Data on fat composition of consumable lamb prepared by different methods was obtained from USDA Nutrient Database for Standart Reference. Using agglomerative hierarchical cluster analysis lamb meat was grouped into two main clusters among which one divided into two families of which each was subdivided into two subfamilies based on fatty acids, cholesterol and energy composition. Present work may be considered as a leading study to systematically classify larger food sets. As high fat foods are rich in flavor and overall palatability, the outcome of this study may lead to behaviorally more acceptable but healthier dietary replacements. Besides future use of the results obtained may reveal the effect of complex compositional dietary influences on health and disease and may have superiority to studies questioning individual dietary items. Furthermore, hieararchial cluster analysis may be used to cluster food including other compositional data in food items like amino acids, vitamins, carbohydrates, as well.

Animals↗
PubMed2002

Hepatitis B e antigen and the risk of hepatocellular carcinoma.

BACKGROUND: The presence of hepatitis B e antigen (HBeAg) in serum indicates active viral replication in hepatocytes. HBeAg is thus a surrogate marker for the presence of hepatitis B virus DNA. We conducted a prospective study to determine the relation between positivity for hepatitis B surface antigen (HBsAg) and HBeAg and the development of hepatocellular carcinoma. METHODS: In 1991 and 1992, we enrolled 11,893 men without evidence of hepatocellular carcinoma (age range, 30 to 65 years) from seven townships in Taiwan. Serum samples obtained at the time of enrollment were tested for HBsAg and HBeAg by radioimmunoassay. The diagnosis of hepatocellular carcinoma was ascertained through data linkage with the computerized National Cancer Registry in Taiwan and with death certificates. We performed a multiple regression analysis to determine the relative risk of hepatocellular carcinoma among men who were positive for HBsAg alone or for HBsAg and HBeAg, as compared with those who were negative for both. RESULTS: There were 111 cases of newly diagnosed hepatocellular carcinoma during 92,359 person-years of follow-up. The incidence rate of hepatocellular carcinoma was 1169 cases per 100,000 person-years among men who were positive for both HBsAg and HBeAg, 324 per 100,000 person-years for those who were positive for HBsAg only, and 39 per 100,000 person-years for those who were negative for both. After adjustment for age, sex, the presence or absence of antibodies against hepatitis C virus, cigarette-smoking status, and use or nonuse of alcohol, the relative risk of hepatocellular carcinoma was 9.6 (95 percent confidence interval, 6.0 to 15.2) among men who were positive for HBsAg alone and 60.2 (95 percent confidence interval, 35.5 to 102.1) among those who were positive for both HBsAg and HBeAg, as compared with men who were negative for both. CONCLUSIONS: Positivity for HBeAg is associated with an increased risk of hepatocellular carcinoma.

Adult↗
PubMed2001

Long-term survival in 11,661 patients with multivessel coronary artery disease in the era of stenting: a report from the Alberta Provincial Project for Outcome Assessment in Coronary Heart Disease (APPROACH) Investigators.

BACKGROUND: Studies of survival of patients with multivessel coronary artery disease (MVD) in the prestent era suggested that outcomes after coronary artery bypass surgery (CABG) are similar to those after percutaneous coronary intervention (PCI) in subsets of coronary severity. The purpose of this study of the Alberta Provincial Project for Outcome Assessment in Coronary Heart Disease (APPROACH) was to examine the association between treatment and survival up to 5 years in patients with MVD enrolled from 1995 through 1998. METHODS AND RESULTS: Data on patient characteristics were obtained at the time of the initial coronary angiography. Survival was determined through data linkage to the provincial Bureau of Vital Statistics. Risk-adjusted hazard ratios were calculated to compare different treatments. In the 11,661 patients with MVD, CABG was the initial therapy in 3782, PCI in 3540, and medical therapy in 4339. Cumulative 5-year survival was 91.4% with CABG, 91.9% with PCI, and 82.9% with medical therapy (P <.001). Hazard ratios were CABG: medical 0.53 (95% confidence interval [CI] 0.46-0.71), PCI: medical 0.65 (95% CI 0.56-0.74), and CABG: PCI 0.81 (95% CI 0.68-0.96). Analysis across coronary severity groups revealed a benefit of CABG compared with PCI only in the group with severe left main CAD: 0.30 (95% CI 0.17-0.54). CONCLUSIONS: In a multicenter clinical setting, MVD patients treated with revascularization have significantly higher 5-year survival rate than do those treated medically. Risk-adjusted comparison reveals PCI treatment to be associated with long-term survival similar to treatment with CABG in all coronary severity subgroups except the group with severe left main coronary artery disease. Patient selection factors are likely to be contributing to these findings.

Aged↗
PubMed2006

The influence of federal health care policy reforms on the use of private health insurance in disadvantaged groups.

OBJECTIVE: To examine changes in the incidence rate ratio of private health insurance (PHI) and Medicare use for episodes of hospitalisation as a function of socio-economic status and accessibility to evaluate the impact of federal health policy reforms. METHODS: The WA Data Linkage System was used to extract all hospital morbidity records in Western Australia from 1991, 1996 and 2001. Adjusted odds ratios of PHI use were estimated in each socio-economic and locational accessibility category in each year using logistic regression. The odds ratios were then converted to adjusted incidence rate ratios controlled for population size. RESULTS: In all cases between 1991 and 1996 the adjusted incident rate ratios fell; this was followed by an increase in the adjusted rate ratio in 2001 to levels near those of 1991 in the most accessible--highest socio-economically advantaged group. However in all other groups the increase fell short of the 1991 levels. The magnitude of the shortfall was associated with worsening accessibility or socio-economic status. In addition, significant changes in the within-group differential incident rate ratios were also observed over time. CONCLUSION: Our study indicates that the recent federal government policies which were aimed at making PHI more affordable to, and therefore more widely used by, lower to middle income earners were successful, lending empirical support for price elasticity of demand for PHI. Our results also indicate that the magnitude of their success varied according to disadvantage, suggesting that this elasticity is variable across both the level and typology of disadvantage.

Databases, Factual↗