Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs.
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We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separable peaks located on both the long and short arms. The unweighted multipoint maximum logarithm of odds score (MLS) was 3.08 on 20p (location, chi = 19.5 cM) under an additive model, whereas the weighted MLS was 2.06 on 20q (chi = 57 cM, recurrence risk,lambda(s) = 1. 25, P = 0.009). Weighted logarithm of odds scores of 2.00 (chi = 69.5 cM, P = 0.010) and 1.92 (chi = 18.5 cM, P = 0.013) were also observed. Ordered subset analyses based on sibships with extreme mean values of diabetes-related quantitative traits yielded sets of families who contributed disproportionately to the peaks. Two-hour glucose levels in offspring of diabetic individuals gave a MLS of 2. 12 (P = 0.0018) at 9.5 cM. Evidence from this and other studies suggests at least two diabetes-susceptibility genes on chromosome 20. We have also screened the gene for maturity-onset diabetes of the young 1, hepatic nuclear factor 4-a (HNF-4alpha) in 64 affected sibships with evidence for high chromosomal sharing at its location on chromosome 20q. We found no evidence that sequence changes in this gene accounted for the linkage results we observed. (+info)
The spouse as a kidney donor: ethically sound?
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A shortage of cadaver donor organs requires transplant units to examine all possible alternatives. Transplantation from living donors accounts for only approximately 10% of kidney transplants in the UK. Recent studies have shown that the results of kidney transplantation between spouses are at least as good as those of well-matched cadaver organs, but very few transplants of this type have been performed in this country so far. As part of the assessment process, the proposed donor and recipient are required to provide written statements about the issues. We reproduce here the personal statements made by one of our patients and his wife: we believe that the statements support our contention that spousal transplantation is ethically justifiable and should be more widely available. We report our early experience in Bristol with seven kidney transplants from spousal donors and we encourage other renal units in this country and elsewhere to consider this method of improving the prospects of kidney transplantation for their patients. (+info)
Active infection with Helicobacter pylori in healthy couples.
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The mode of spread of Helicobacter pylori infection is subject to ongoing debate. Recent studies among patients with gastrointestinal disorders suggest a potential role of conjugal transmission. In this study, the clustering of H. pylori infection was assessed among 110 employees of a health insurance company and their partners. Active infection with H. pylori was measured by the 13C-urea breath test. Information on potential confounders was collected by a standardized questionnaire. Overall, 16 employees (14.5%) and 24 partners (21.8%) were infected. While only 7% (6/86) of employees with an uninfected partner were infected, this applied to 42% (10/24) of employees with an infected partner. A very strong relation between partners' infection status persisted after control for age and other potential confounders (adjusted odds ratio, 7.0; 95% confidence interval, 1.8-26.7). Furthermore, the risk of infection increased with the number of years lived with an infected partner. These results support the hypothesis of a major role of spouse-to-spouse transmission of H. pylori infection. (+info)
Sexual functioning among stroke patients and their spouses.
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BACKGROUND AND PURPOSE: The aim of this study was to assess effects of stroke on sexual functioning of stroke patients and their spouses and to study the associations of clinical and psychosocial factors with poststroke changes in sexual functions. METHODS: One hundred ninety-two stroke patients and 94 spouses participating in stroke adjustment courses sponsored by the Finnish Stroke and Aphasia Federation completed a self-administered questionnaire concerning their prestroke and poststroke sexual functions and habits. The main outcome measures were (1) libido, (2) coital frequency, (3) sexual arousal, including erectile and orgastic ability and vaginal lubrication, and (4) sexual satisfaction. RESULTS: A majority of the stroke patients reported a marked decline in all the measured sexual functions, ie, libido, coital frequency, erectile and orgastic ability, and vaginal lubrication, as well as in their sexual satisfaction. The most important explanatory factors for these changes were the general attitude toward sexuality (odds ratio [OR] range, 7.4 to 21.9; logistic regression analysis), fear of impotence (OR, 6.1), inability to discuss sexuality (OR range, 6.8 to 18.5), unwillingness to participate in sexual activity (OR range, 3.1 to 5. 4), and the degree of functional disability (OR range, 3.2 to 5.0). The spouses also reported a significant decline in their libido, sexual activity, and sexual satisfaction as a consequence of stroke. CONCLUSIONS: Sexual dysfunction and dissatisfaction with sexual life are common in both male and female stroke patients and in their spouses. Psychological and social factors seem to exert a strong impact on sexual functioning and the quality of sexual life after stroke. (+info)
Too far, too little, too late: a community-based case-control study of maternal mortality in rural west Maharashtra, India.
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A total of 121 maternal deaths, identified through multiple-source surveillance in 400 villages in Maharashtra, were prospectively enrolled during 1993-95 in a population-based case-control study, which compared deaths with the survivors of similar pregnancy complications. The cases took significantly longer to seek care and to make the first health contact after the decision to seek care was taken. They also travelled significantly greater distances through a greater number of health facilities before appropriate treatment was started. Multivariate analysis showed the negative effect of excessive referrals and the protective effect of the following: residing in and not away from the village; presence of a resident nurse in the village; having an educated husband and a trained attendant at delivery; and being at the woman's parents' home at the time of illness. Other significant findings showed that deaths due to domestic violence were the second-largest cause of deaths in pregnancy, that more than two-thirds of maternal deaths were underreported in official records, and that liveborn infants of maternal deaths had a markedly higher risk of dying in the first year of life. This study points to the need for information-education-communication (IEC) efforts to increase family (especially male) preparedness for emergencies, decentralized obstetric management with effective triage, and a restructuring of the referral system. (+info)
Ischemic stroke risk and passive exposure to spouses' cigarette smoking. Melbourne Stroke Risk Factor Study (MERFS) Group.
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OBJECTIVES: This study investigated the association between ischemic stroke risk and passive exposure to cigarette smoking. METHODS: Risk factors among 452 hospitalized cases of first-episode ischemic stroke were compared with 452 age- and sex-matched "neighbor-hood" controls. RESULTS: The risk of stroke was twice as high for subjects whose spouses smoked as for those whose spouses did not smoke (95% confidence interval = 1.3, 3.1), after adjustment for the subject's own smoking, heart disease, hypertension, diabetes, and education level. These results were confirmed when analysis was limited to those who never smoked. CONCLUSIONS: These findings provide evidence that spousal smoking may be a significant risk factor for ischemic stroke. (+info)
Moral concerns of different types of patients in clinical BRCA1/2 gene mutation testing.
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PURPOSE: Implementing predictive genetic testing for a severe and common chronic disease such as breast cancer may raise unique ethical problems. Here we report on moral concerns experienced by patients in the setting of genetic counseling based on BRCA1/2 gene testing. PATIENTS AND METHODS: Patients were members of breast or breast/ovarian cancer families in a consecutive series of 100 families who received counseling at a familial cancer clinic. The patients' moral concerns were identified using the grounded theory approach in the qualitative analysis of verbal transcripts of 45 counseling sessions. Included were sessions with patients who had breast and ovarian cancer, as well as their male and female relatives, before and after the specific BRCA1/2 gene mutation was identified in the family, and before and after those who opted for mutation analysis were informed of their carrier status. RESULTS: There is an association of BRCA1/2 gene mutation carrier status and specific topics of moral concern. The moral preoccupations of patients with breast and ovarian cancer (probable carriers) related to their being instrumental in the detection of the specific mutation segregating in the family. The preoccupations of possible carriers concerned their own offspring. Individuals who tested positive (proven carriers) were concerned with issues of confidentiality. Patients who tested negative (proven noncarriers) were concerned with helping siblings and other relatives. CONCLUSION: Knowledge of the moral concerns of subjects in the study sample may help health care providers be aware of the moral concerns of their own patients. This report may also contribute to the debate on predictive testing for familial adult-onset diseases from the patient's perspective. (+info)
A staff dialogue on caring for a cancer patient who commits suicide: psychosocial issues faced by patients, their families, and caregivers.
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Shortly before his death in 1995, Kenneth B. Schwartz, a cancer patient at Massachusetts General Hospital (MGH), founded The Kenneth B. Schwartz Center at MGH. The Schwartz Center is a non-profit organization dedicated to supporting and advancing compassionate health care delivery which provides hope to the patient, support to caregivers, and encourages the healing process. The Center sponsors the Schwartz Center Rounds, a monthly multidisciplinary forum during which caregivers discuss a specific cancer patient, reflect on the important psychosocial issues faced by patients, their families, and their caregivers, and gain insight and support from their fellow staff members. The case presented was of a 31-year-old man who developed adenocarcinoma of the lung with painful bone metastases. His tumor was unresponsive to treatment and he subsequently committed suicide by shooting himself. The verbatim and subsequent discussion raised a number of issues. Staff were devastated by the violent way that he ended his life. They questioned whether more could have been done to prevent this outcome, yet acknowledged that it mirrored the way he had lived, and were able to discuss the values by which we live and die. Some, but not all, felt that the patient had the right to choose how and when to end his life. (+info)