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61.
D. Ramsbottom J.M. Scott A. Molloy D. G. Weir P. N. Kirke J. L. Mills P. M. Gallagher A. S. Whitehead 《Clinical genetics》1997,51(1):39-42
Mildly elevated maternal plasma homocysteine (Hcy) levels (hyperhomocysteinemia) have recently been observed in some neural tube defect (NTD) pregnancies. Plasma levels of Hcy are governed by both genetic and nutritional factors and the aetiology of NTDs is also known to have both genetic and nutritional components. We therefore examined the frequency of relatively common mutations in the enzyme cystathionine β-synthase (CBS), which is one of the main enzymes that controls Hcy levels, in the NTD population. Neither the severely dysfunctional G307S CBS allele nor the recently reported 68 bp insertion/I278T CBS allele was observed at increased frequency in the cases relative to controls. We therefore conclude that loss of function CBS alleles do not account for a significant proportion of NTDs in Ireland. 相似文献
62.
Hart TC; Bowden DW; Bolyard J; Kula K; Hall K; Wright JT 《Human molecular genetics》1997,6(13):2279-2284
Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a
highly penetrant autosomal dominant trait that is characterized by variable
clinical expression. The principal clinical features include kinky/curly
hair in infancy, enamel hypoplasia, taurodontism, as well as increased
thickness and density of cranial bones. Possible genetic linkage has been
reported for TDO with the ABO blood group locus, but the gene defect
remains unknown. We have identified four multiplex families (n = 63, 39
affected, 24 unaffected) from North Carolina segregating TDO. We previously
have excluded a major locus for TDO in the ABO region for these families.
Utilizing a genome-wide search strategy, we obtained conclusive evidence
for linkage of the TDO syndrome locus to markers on chromosome 17q21
(D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic
heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7
cM chromosomal segment flanked by D17S932 and D17S941. This finding
represents the first step towards isolation and cloning of the TDO gene.
Identification of this gene has important implications for understanding
normal and abnormal craniofacial development of hair, teeth and bone.
相似文献
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Little is known about the process of referral to Irish hospital outpatient medical clinics. We analysed pre-referral management, information quality and communication to a general medical outpatient clinic. 100 consecutive attendee referral letters were prospectively assessed for information, appropriateness, legibility and pre-referral management. Patients underwent a questionnaire. We documented the final diagnosis and management patterns. 16% of letters were largely illegible, Only 47% of letters gave examination findings and of those, 40% omitted significant details. Appropriate pre-referral investigations were performed in 55%. Where performed, results were not enclosed in 32%. In 61% of cases therapy could have been instituted prior to referral, of these treatment was not started in 36%. 16% of patients did not understand the reason for referral. 10% of referrals were inappropriate. In this limited study there were substantial communication deficiencies in patient referral. If standard criteria were set (e.g. by proforma) before a referral is accepted perhaps the quality of patient care might improve especially if treatment could be initiated earlier by referring doctors. 相似文献
66.
Parle-McDermott A Mills JL Kirke PN O'Leary VB Swanson DA Pangilinan F Conley M Molloy AM Cox C Scott JM Brody LC 《Journal of human genetics》2003,48(4):190-193
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects
(NTDs). The relationship between a second MTHFR polymorphism (1298A→C) and NTD risk has been inconsistent between studies.
We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A→C. Our
findings do not support a role for the 1298A→C polymorphism in NTDs (OR 0.85 (95% CI 0.49–1.47), p= 0.55), nor do we observe a combined effect with the 677C→T polymorphism.
Electronic Publication 相似文献
67.
Gerard J. Molloy Derek W. Johnston Marie Johnston Chuan Gao Miles D. Witham Allan D. Struthers Marion E. T. McMurdo 《British journal of health psychology》2008,13(3):401-417
Objectives The demand–control (D–C) model of job strain has generated a considerable body of empirical support in predicting psychological health outcomes in the context of work. This study aimed to extend previous work using the D–C model of job strain to predict caregiver burden and satisfaction in the informal caregivers of patients with heart failure. Design and method Data were gathered from 60 caregiver/patient dyads in a cross‐sectional design. Patients with chronic stable heart failure were recruited from out‐patient clinics. The dependent variables were caregiver burden and satisfaction. Demand and control were measured using both patient‐ and caregiver‐derived measures. Results The D–C model accounted for 15 and 19% of the variance in caregiver burden, after controlling for age, gender and relationship to the patient. Lower control was associated with higher burden. The D–C model did not predict caregiver satisfaction. Conclusion The D–C model was associated with caregiver burden, but not satisfaction in caregivers, with control being the dominant predictor. Research linking the theory and findings from job strain and informal caregiving studies may elucidate both fields of research. Using the demand–control model of job strain to predict caregiver burden and caregiver satisfaction in the informal caregivers of heart failure patients. 相似文献
68.
Parle-McDermott A Kirke PN Mills JL Molloy AM Cox C O'Leary VB Pangilinan F Conley M Cleary L Brody LC Scott JM 《European journal of human genetics : EJHG》2006,14(6):768-772
The risk of neural tube defects (NTDs) is known to have a significant genetic component that could act through either the NTD patient and/or maternal genotype. The success of folic acid supplementation in NTD prevention has focused attention on polymorphisms within folate-related genes. We previously identified the 1958G>A (R653Q) polymorphism of the trifunctional enzyme MTHFD1 (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase; often referred to as 'C1 synthase') as a maternal risk for NTDs, but this association remains to be verified in a separate study to rule out a chance finding. To exclude this possibility, we genotyped an independent sample of mothers with a history of an NTD-affected pregnancy derived from the same Irish population. In this sample there was a significant excess of 1958AA homozygote mothers of NTD cases (n=245) compared to controls (n=770). The direction and magnitude of risk (odds ratio 1.49 (1.07-2.09), P=0.019) is consistent with our earlier finding. Sequencing of the MTHFD1 gene revealed that this association is not being driven by another common variant within the coding region. We have established that the MTHFD1 1958G>A polymorphism has a significant role in influencing a mother's risk of having an NTD-affected pregnancy in the Irish population. 相似文献
69.
Daniel G Petereit Kevin Molloy Mary L Reiner Petra Helbig Kristin Cina Raylene Miner Caroline Spotted Tail Catherine Rost Patricia Conroy Chester R Roberts 《Cancer control》2008,15(3):254-259
BACKGROUND: American Indians (AIs) in the Northern Plains region suffer disproportionately high cancer mortality rates compared with the general US population and with AIs from other regions in the United States. METHODS: The National Cancer Institute developed the Cancer Disparity Research Partnership to address these inequities. This initiative in Rapid City, South Dakota, attempts to lower cancer mortality rates for AIs by access to innovative clinical trials, behavioral research, and a genetic study. Patient navigation is a critical part of the program. Two navigation strategies are described: navigators at the cancer center and navigators on each reservation. A retrospective analysis was performed to determine if navigated patients (n = 42) undergoing potentially curative radiotherapy had fewer treatment interruptions compared with nonnavigated patients (n = 74). RESULTS: A total of 213 AIs with cancer have undergone patient navigation. For those undergoing cancer treatment, the median number of patient navigation interactions was 15 (range 1 to 95), whereas for those seen in follow-up after their cancer treatment, the median number of contacts was 4 (range 1 to 26). AIs who received navigation services during curative radiation treatment had on average 3 fewer days of treatment interruptions compared to AIs who did not receive navigation services during curative radiation treatment (P = .002, N = 116). CONCLUSIONS: Early findings suggest that patient navigation is a critical component in addressing cancer disparities in this population. The program has established trust with individual cancer patients, with the tribal councils, and with the general population on each of the three reservations of western South Dakota. 相似文献
70.
Carriage of Haemophilus influenzae and Streptococcus pneumoniae in healthy Chinese and Vietnamese children in Hong Kong 总被引:1,自引:0,他引:1
RYT Sung JM Ling SM Fung SJ Oppenheimer DW Crook JTF Lau AFB Cheng 《Acta paediatrica (Oslo, Norway : 1992)》1995,84(11):1262-1267
Nasopharyngeal carriage of Haemophilus influenzae and Streptococcus pneumoniae was studied in 621 healthy Chinese children and 300 healthy Vietnamese children aged from 2 months to 5 years in Hong Kong. The carriage rate of H, influenzae type b in Vietnamese children was 1.3% (CI 0.04-2.63%); it was zero in Chinese. The carriage rate of non-typable H. influenzae was 5.8% (CI 1.4-7.6%) in Chinese and 65.4% (CI 58.9-69.8%) in Vietnamese. The carriage rates of S. pneumoniae were 10.8% (CI 8.3-13.2%) and 55.7% (CI 50.1-61.3%) in Chinese and Vietnamese children, respectively. Univariate and multivariate logistic regression analyses were performed to search for factors associated with differences in carriage rates of both H. influenzae and S. pneumoniae between Chinese and Vietnamese children. Although older age, smaller living area and parental smoking were associated with higher carriage rates, these could not explain the remarkably low carriage rates of both bacteria in Chinese children. 相似文献