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PubMed2006

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

PURPOSE: The aim of this research was to determine the molecular factors of influence on the clinical expression of Leber hereditary optic neuropathy (LHON), which might aid in counseling LHON patients and families. The prevalence of LHON in the Dutch population was determined. DESIGN: Observational, retrospective population cohort study. METHODS: The clinical characteristics of LHON patients of 25 families, previously described in 1963, were reevaluated. The mutation and haplotype were determined in the DNA of one affected LHON patient per family. The genotype of their relatives could be deducted, enabling us to evaluate retrospectively the genotype-phenotype correlation. The prevalence of LHON was determined on the basis of anamnestic evaluation of patients in 1963 and by using population registers of that period. RESULTS: The LHON mutation does not influence disease penetrance (50% in male subjects; 10% to 20% in female subjects). More than half of the patients with the 14484 mutation exhibit a partial recovery of vision, regardless of the acuteness of disease onset (P = .001), whereas only 22% of the 11778 carriers and 15.4% of the 3460 carriers recovered. The recovery did not take place within the first year after onset and was uncommon after four years. The onset of LHON is in general very acute but might be more gradual in 11778 carriers and in children. The calculated prevalence of LHON in the Dutch population (1/39,000) is very likely an underestimation caused by a selection bias of familial cases in the original study. CONCLUSIONS: The LHON genotype influences the recovery of vision and disease onset but is unrelated to age, acuteness of onset, or gender. The genotype does not influence disease penetrance. Children might exhibit a slower onset of disease.

Adolescent↗
PubMed1999

Increased incidence of cancer in patients with cartilage-hair hypoplasia.

OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives. STUDY DESIGN: One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. Their parents and nonaffected siblings were identified through the Population Register Center. This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995. RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7.2 to 102). The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population. CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH.

Adolescent↗
PubMed1990

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots.

The mutations of 76 haemophilia B patients representing the whole population registered with the Malmö haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over other single-base changes. Most of such transitions (82%) occur at 9 CpG sites occupying critical positions (transitions at 3 sites substitute essential arginines, while at 6 sites transition to TpG creates stop codons). Sixteen of the 18 possible transitions at these 9 sites cause clear haemophilia B and should be fully ascertained in our haemophilia B population. This allowed the direct estimate of the rate of CpG transitions. This is 1.05 x 10(-7) substitutions per base per gamete per generation. The marked excess of CpG transitions in haemophilia B appears partly due to the high proportion of CpG sites at critical positions (at least 9 out of 20). We propose that this follows from the fact that male hemizygosity makes X-linked genes particularly susceptible to selective forces that tend to fix CpG sites arising at critical positions.

Amino Acids↗
PubMed1994

[Mortality and industrialization in the Basque country. Vizcaya, 1860-1930].

"This paper examines the decline of mortality in Vizcaya [Spain]...the first Basque province to be industrialised at the beginning of the demographic transition. Making use of both the death and municipal population registers we analyse its diverse trajectory in two differentiated economic environments: those municipalities which played an important role in the industrial process and those rural municipalities which remained on the sidelines." The author compares life expectancies, causes of death, and sanitary conditions, and discusses some social consequences of industrialization. (SUMMARY IN ENG AND FRE)

Cause of Death↗
PubMed2004

Similar prediction of mortality by the health assessment questionnaire in patients with rheumatoid arthritis and the general population.

BACKGROUND: The self report health assessment questionnaire (HAQ) quantifies disability in activities of daily living (ADL). In patients with rheumatoid arthritis, the HAQ predicts mortality, work disability, and hip replacement surgery. It has been widely used in rheumatology, but population based data are rare. OBJECTIVE: To determine whether the HAQ predicts mortality in patients with rheumatoid arthritis (n = 1095) and community controls (n = 1490). METHODS: A mailed questionnaire including the HAQ, visual analogue scales for pain and global health, comorbidities, education level, height, weight, and smoking status was administered in June 2000. Two years later, the vital status of the subjects was ascertained from the Finnish Population Register database. RESULTS: There were 41 deaths (10.1%) among the 404 patients with rheumatoid arthritis who had a baseline HAQ > or =1 (indicating at least some difficulty in most ADL), and 16 (2.3%) among 691 patients with HAQ <1 (p<0.001); in the community controls the values were 20 (13.6%) among 147 with HAQ > or =1, and 14 (1.0%) among 1343 with HAQ <1 (p<0.001). A higher HAQ score was an independent predictor of mortality in patients with rheumatoid arthritis (hazard ratio 2.73 (95% confidence interval, 1.86 to 4.02); p<0.001) and in community controls (2.75 (1.61 to 4.70); p<0.001). CONCLUSIONS: The HAQ predicts mortality in the community population as well as in patients with rheumatoid arthritis. People with similar levels of disability appear to have a similar likelihood of mortality over two years.

Activities of Daily Living↗
PubMed1997

Fertility of Danish battery workers exposed to lead.

BACKGROUND: Inorganic lead may impair male fecundity through its action on the germinal epithelium, the endocrine system or both, but information on possible impact on fertility in exposed populations is limited. METHODS: Fertility was examined in 1349 male battery plant employees and in 9596 reference company employees over a follow-up of 25,949 and 183,414 person years respectively. The cohorts were identified by records in a national pension fund and information on births was obtained from the Danish Population Register. In a subset of the battery worker cohort, the average level of lead in blood was 35.9 micrograms/dl (4639 blood samples on 1654 person years in 400 workers; SD 13.0; range 3-125). The birth rate was analysed by logistic regression on occupational exposure and several extraneous determinants (age, parity, calendar year, and previous children). RESULTS: The birth-rate was not reduced in years at risk from exposure to lead in comparison with years not-at-risk; either in comparison with not-at-risk years within the battery plant cohort (odds ratio [OR] = 0.997, 95% confidence interval [CI]: 0.88-1.13), or in comparison with the external reference population (OR = 0.983, 95% CI: 0.87-1.11). CONCLUSIONS: Inorganic lead seems not to impair fertility among Danish battery workers. This finding does not rule out that the time taken to achieve a pregnancy is increased among battery workers because most pregnancies in Denmark are planned.

Adult↗
PubMed1984

[Attitude toward retirement of employed workers in 5 Dutch communities; a research report].

Most studies on retirement in the Netherlands concern workers of one specific industrial branch or company. This puts restrictions on the generalization of research outcomes. We selected 553 male workers, aged 64 (N = 376) and 60 (N = 177) via the population registers of five northern municipalities, who were on the pay-roll for at least eight hours a week. The mean total of working hours per week, however, was 41,5. From a pilot study with other, although similar respondents 35 items relating to retirement were generated. These could be reduced in the main study to four, a priori hypothesized dimensions: the attitude toward retirement, the perception of retirement and life after retirement, the attitude toward loss of social work contacts and the actualization of self after retirement. The data from the longitudinal research project, that are reported in this article, are gathered in the period 1973-74. We estimate that in the population of those aged 64, 15-25% had a negative attitude toward retirement, 16-26% a negative perception of retirement, 45-55% a negative attitude toward the loss of social work contacts and 61-70% a negative perception of self-actualization after retirement. For those aged 60 we estimate these intervals at respectively 8-22%, 13-27%, 45-59% and 62-76%.

Attitude↗
PubMed2004

Prevalence of olfactory dysfunction: the skövde population-based study.

OBJECTIVES/HYPOTHESIS: Patients with olfactory dysfunction appear repeatedly in ear, nose, and throat practices, but the prevalence of such problems in the general adult population is not known. Therefore, the objectives were to investigate the prevalence of olfactory dysfunction in an adult Swedish population and to relate dysfunction to age, gender, diabetes mellitus, nasal polyps, and smoking habits. STUDY DESIGN: Cross-sectional, population-based epidemiological study. METHODS: A random sample of 1900 adult inhabitants, who were stratified for age and gender, was drawn from the municipal population register of Skövde, Sweden. Subjects were called to clinical visits that included questions about olfaction, diabetes, and smoking habits. Examination was performed with a smell identification test and nasal endoscopy. RESULTS: In all, 1387 volunteers (73% of the sample) were investigated. The overall prevalence of olfactory dysfunction was 19.1%, composed of 13.3% with hyposmia and 5.8% with anosmia. A logistic regression analysis showed a significant relationship between impaired olfaction and aging, male gender, and nasal polyps, but not diabetes or smoking. In an analysis of a group composed entirely of individuals with anosmia, diabetes mellitus and nasal polyps were found to be risk factors, and gender and smoking were not. CONCLUSION: The sample size of the population-based study was adequate, with a good fit to the entire population, which suggests that it was representative for the Swedish population. Prevalence data for various types of olfactory dysfunction could be given with reasonable precision, and suggested risk factors analyzed. The lack of a statistically significant relationship between olfactory dysfunction and smoking may be controversial.

Aged↗
PubMed1993

Diet and risk of gastric cancer. A population-based case-control study in Sweden.

A case-control study to evaluate risk factors of gastric cancer was carried out in areas with contrasting incidence rates in Sweden. Face-to-face interviews were conducted with 338 of 456 eligible histologically confirmed gastric-cancer cases and 669 of 880 eligible control subjects, sampled from population registers and frequency-matched by age and gender. We focused on 2 periods, adolescence and 20 years prior to interview. The association of gastric-cancer risk with dietary habits during adolescence were similar to that found for the period 20 years before interview; high consumption of wholemeal bread, fruit and vegetables was associated with reduced gastric-cancer risk. In addition, cheese, fish and tea had a protective effect during adolescence. Increased gastric-cancer risk was related to whole-milk consumption, but this association decreased substantially in a multivariate analysis including vegetables. There was a positive relationship between gastric-cancer risk and the age at which the interviewees started using refrigerators. This population-based study confirmed the protective effect of a high consumption of vegetables and fruit in the development of gastric cancer, but failed to find any association between intake of meat, sausage, cold cuts, liver, salt, coffee, the habit of frying, smoking or grilling foods, and risk of gastric cancer.

Adult↗
PubMed1994

Alcohol involvement in fatal traffic crashes in the United States: 1979-90.

Trends in alcohol-related traffic crash fatalities for the United States were examined with data from the Fatal Accident Reporting System for the years 1979-90. Alcohol-related traffic crash fatalities have decreased 10% over the 12 years studied, from 20,245 in 1979 to 18,279 in 1990. Fatality rates per 100 million vehicles miles traveled, and per 100,000 population, registered vehicles and licensed drivers have decreased even more sharply. Rates of blood alcohol testing of fatally injured drivers rose substantially among the States, with the nationwide rate increasing from 44% in 1979 to 75% in 1990. Factors that may be affecting these trends are discussed.

Accidents, Traffic↗
PubMed1997

Prevalence and prediction of silent ischaemia in diabetes mellitus: a population-based study.

OBJECTIVES: The aim of the study was to estimate the prevalence of silent ischaemia in diabetic subjects in the population, to compare the prevalence of silent ischaemia in diabetics and non-diabetics and to attempt to predict the presence of silent ischaemia in diabetic subjects. METHODS: A random sample of 120 users of insulin and 120 users of oral hypoglycaemic agents aged 40-75 years living in the Danish municipality of Horsens were asked to participate in the study. Corresponding to the youngest half of the sample two non-diabetic controls were randomly selected from the Central Population Register. ST-depression of horizontal or descending character of at least 0.1 mV measured 80 ms after the J-point on either exercise ECG or Holter ECG was considered indicative of myocardial ischaemia. Angina pectoris was considered present if the Rose questionnaire was positive, or chest pain was registered simultaneously with ECG evidence of ischaemia. Individuals with ischaemia, but without angina pectoris, were defined as persons with silent ischaemia. RESULTS: Seventy-four percent of the invited group were included. The observed prevalence of silent ischaemia in diabetics was 13.5% (95% CI = 8.5-19.8%). No association was found between silent ischaemia and gender (P = 0.83) or diabetes type (P = 0.67). In the group of diabetics who had controls, the prevalence was 11.4%, and among the controls the prevalence was 6.4% (OR = 1.87, one-sided P = 0.079). Systolic blood pressure was highly predictive of silent ischaemia in the diabetic subjects (P = 0.005). No predictive value could be shown for other variables. CONCLUSION: This is the first population-based study of silent ischaemia in diabetes. The prevalence of silent ischaemia in diabetic subjects was 13.5%. The frequency of silent ischaemia did not differ significantly between diabetics and non-diabetics. Systolic blood pressure was predictive of silent ischaemia in diabetes.

Adult↗
PubMed2005

Health risk appraisal for older people in general practice using an expert system: a pilot study.

The prevention of disability in later life is a major challenge facing industrialised societies. Primary care practitioners are well positioned to maintain and promote health in older people, but the British experience of population-wide preventive interventions has been disappointing. Health risk appraisal (HRA), an emergent information-technology-based approach from the USA, has the potential for fulfilling some of the objectives of the National Service Framework for Older People. Information technology and expert systems allow the perspectives of older people on their health and health risk behaviours to be collated, analysed and converted into tailored health promotion advice without adding to the workload of primary care practitioners. The present paper describes a preliminary study of the portability of HRA to British settings. Cultural adaptation and feasibility testing of a comprehensive health risk assessment questionnaire was carried out in a single group practice with 12,500 patients, in which 58% of the registered population aged 65 years and over participated in the study. Eight out of 10 respondents at all ages found the questionnaire easy or very easy to understand and complete, although more than one-third had or would have liked assistance. More than half felt that the length of the questionnaire was about right, and one respondent in 10 disliked some questions. Of those who completed the questionnaire and received tailored, written health promotion advice, 39% provided feedback on this with comments that can be used for increasing the acceptability of tailored advice. These findings have informed a wider exploratory study in general practice.

Aged↗
PubMed2002

Social factors and mortality in the old-old in Israel: the CALAS study.

OBJECTIVES: Using a theoretical framework that divided social factors measures into structure, function, and social engagement, this study determined those aspects of social networks most significantly associated with 8-year, all-cause mortality among the old-old in Israel. METHODS: Jews (n = 1,340) aged 75-94 living in Israel on January 1, 1989, were randomly selected from the National Population Register; stratified by age, sex, and place of birth; and interviewed in person. Mortality was determined according to the National Death Registry (December 1997). RESULTS: After controlling for sociodemographics and measures of health, cognitive status, depressive symptoms, and physical function, the measures of social engagement that explicitly involved others were associated with a lower risk of mortality. No measure of the function of the social network was associated with risk of mortality. Living in the community without a spouse and with a child and living in an institution were significantly associated with a higher risk of mortality. DISCUSSION: The finding that participating in activities with people outside of the immediate family is associated with a lower risk of death has practical implications for helping the aging population and their families in their decision-making process. Lack of support for the hypothesis that those with more social support would show reduced risk of mortality may indicate that the positive effect of perceiving support and the negative effect of needing support may cancel each other out and result in no perceived effect. In this population, the association between socioeconomic status (SES) and the risk of mortality seems to be expressed through the living arrangements, with the sick and frail, both in institutions (higher SES) and in the community with a child or other (lower SES), having a higher risk of mortality. These findings are consistent with the use of children as a substitute for institutionalization, and imply that at least some cohabitation was the caretaking solution for the noninstitutionalized old-old who were of low SES, frail, and close to death.

Activities of Daily Living↗
PubMed1994

[Nuclear families by family life cycle category, January 1, 1992].

"In this article, family life-cycle categories [in the Netherlands] are defined by the ages of the youngest and the eldest child. The figures are from an enumeration from automated municipal population registers. For each inhabitant sex, year of birth, marital status, country of birth, family relationship and a number of other characteristics were obtained. The family relationship shows whether or not a person lives in a nuclear family and if so, what position they have therein (e.g. spouse, parent, child). On the basis of these data three types of nuclear families were defined...." (SUMMARY IN ENG)

Age Factors↗
PubMed2005

Memory and verbal learning functions in twins with bipolar-I disorder, and the role of information-processing speed.

BACKGROUND: Euthymic bipolar-I disorder (BP I) patients and their siblings have shown impairments in verbal learning and memory functions compared with controls, suggesting that these impairments may be genetic in origin. Reduced information-processing speed has been associated with impaired memory in the elderly, and recently in schizophrenia. The authors compared verbal learning and memory functioning in twins with BP I and co-twins to control twins, and examined whether the observed deficits are related to information-processing speed. METHOD: Finnish Medical and Population Registers and Twin Cohorts were used to identify the BP I and control twins. Neuropsychological tests assessing verbal learning and memory, working memory, facial recognition, visual memory, and information-processing speed were administered to 26 BP I twins, 19 non-bipolar co-twins, and 114 controls. Group differences were analyzed by generalized estimation equation modeling. RESULTS: BP I patients, but not co-twins, showed impairments in all memory tests compared with controls. Female co-twins showed impairment in verbal learning and memory. Information-processing speed had a significant effect on encoding and learning efficiency. CONCLUSIONS: This study showed for the first time that information-processing speed is related to memory functioning and verbal learning in BP I in a population-based, representative and euthymic sample. Furthermore, the data support the view that defects in verbal memory may be related to the genetic factors predisposing to BP I in females.

Adult↗
PubMed2002

Upper gastrointestinal cancer in a population-based screening program with fecal occult blood test for colorectal cancer.

BACKGROUND: Screening with Hemoccult-II (H-II) followed by colonoscopy, when fecal occult blood is demonstrated, reduces mortality from colorectal cancer. Whether upper gastrointestinal investigation is necessary when colonoscopy does not reveal any significant colorectal lesion is doubtful, and is the subject of this study. MATERIAL: In 1985, 30,967 persons from the general population register of Funen were randomized to biennial H-II screening. A positive test was followed by colonoscopy and no attempt was made to evaluate the upper gastrointestinal tract. Based on the information from the Funen Patient Database, the National Board of Health's Register of Death Causes, the Cancer Register and the National Register of Patients, all persons with malignancy of the gastrointestinal tract were identified. RESULTS: During 15 years and 8 screening rounds, 1,767 tests were positive; 1,536 complete colonic investigations detected colorectal cancer in 182 persons, adenoma > or = 10 mm in 440 persons, and in 879 investigations no colorectal lesion was found. Upper GI cancers were diagnosed in 209 persons within 2 years of the H-II test (199 after a negative H-II and no more than 10 persons within 2 years of a positive test). Among the 10, two were diagnosed as a consequence of symptoms at the time of screening. CONCLUSION: It is unjustified to perform upper gastrointestinal investigation in asymptomatic persons with a positive H-II in a Danish population screening for colorectal cancer.

Adenoma↗
PubMed1994

Predicting the disability of first-time stroke sufferers at 1 year. 12-month follow-up of a population-based cohort in southeast England.

BACKGROUND AND PURPOSE: The purpose of this study was to predict the functional outcome at 1 year of first-time stroke patients aged younger than 75 years in relation to the severity of stroke and demographic characteristics. METHODS: Population registers in three districts of southeast England were established in August 1989, with notification by stroke registry field-workers, general practitioners, and rehabilitation practitioners. Assessments were made using the Barthel index for activities of daily living at the time of maximum impairment and at 3 and 12 months after the stroke. RESULTS: Of 639 registered stroke patients, 392 without previous disability survived and were assessed for disability at 3 months, of whom 34 (9%) were severely disabled and 60 (15%) moderately disabled. Initial incontinence was the best single predictor of disability with a sensitivity of 60% and a specificity of 78%. Two hundred twenty-five patients (35%) were eligible for 12-month follow-up; 11% had moderate or severe disability, for which initial incontinence was the best predictor. CONCLUSIONS: There is no evidence from this study of an association between demographic characteristics and the disability status of stroke survivors in the medium term. Multivariable predictors of disability had little advantage over incontinence within 24 hours of the stroke. The estimates of the prevalence of disability from this large population-based study are relevant when assessing the medium-term needs of stroke patients.

Activities of Daily Living↗
PubMed2001

Validity of the new American College of Rheumatology criteria for neuropsychiatric lupus syndromes: a population-based evaluation.

OBJECTIVE: To assess the validity of the recently developed American College of Rheumatology (ACR) nomenclature for neuropsychiatric systemic lupus erythematosus (NPSLE). METHODS: We conducted a cross-sectional, population-based study covering an area with 440,000 people. A total of 46 patients aged 16 to 65 years fulfilled the criteria for a definite diagnosis of SLE. One control for each patient matched by age, sex, education, and place of residence was randomly identified from the population register. All patients and controls underwent a clinical neurologic examination and neuropsychological testing. The data were analyzed using conditional logistic regression methods. RESULTS: Forty-two patients (91%) and 25 controls (56%) fulfilled at least one of the ACR NPSLE criteria, which gave an odds ratio (OR) of 9.5 (95% confidence interval [CI] 2.2-40.8) but low specificity (0.46). Cognitive dysfunction was the most common syndrome detected in 37 patients (80%). A revised set of 16 criteria excluding the syndromes without evidence for neuronal damage resulted in improved specificity (OR 7.0, 95% CI 2.1-23.5, specificity 0.93). CONCLUSION: The proposed 19 ACR criteria did not differentiate SLE patients from controls, nor NPSLE patients from other SLE patients. The revised NPSLE criteria proposed by us performed well in our population but should be evaluated in a larger patient population.

Adolescent↗