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PubMed1988

The polymorphism of HLA antigens in the Chinese.

Remarkable differences were observed in antigen frequencies (AF), gene frequencies (GF) and haplotype frequencies (HF) when 2441 healthy Chinese individuals representing nine different ethnic groups and living in 14 different geographic locations were examined for the genetic distribution of the various HLA Class I and II markers. A sizable number of individuals of each ethnic group within each of the three major categories of the Chinese population, namely, Hans, Mongols, and Southern minorities, have been studied here, providing useful population statistics for applications such as determination of probabilities of paternity, comparisons for HLA and disease associations, and anthropologic studies.

China↗
PubMed2003

Estimating recombination rates from population-genetic data.

Obtaining an accurate measure of how recombination rates vary across the genome has implications for understanding the molecular basis of recombination, its evolutionary significance and the distribution of linkage disequilibrium in natural populations. Although measuring the recombination rate is experimentally challenging, good estimates can be obtained by applying population-genetic methods to DNA sequences taken from natural populations. Statistical methods are now providing insights into the nature and scale of variation in the recombination rate, particularly in humans. Such knowledge will become increasingly important owing to the growing use of population-genetic methods in biomedical research.

Genetics, Population↗
PubMed1990

Research in physical medicine and rehabilitation X. Information resources.

Researchers in physical medicine and rehabilitation require access to information regarding possible interventions and programs, available services and technology, research (published, unpublished and in progress), statistics on incidence, prevalence and expected recovery, and funding sources. This paper provides an overview to the most readily available sources of information, including 16 abstracts and indexes, 6 sources of review articles, 9 population statistical databases and 84 journals specifically devoted to rehabilitation. Of these journals, 29 may be accessed through Medline and 32 through other sources. An additional 58 journals indexed in Medline publish more than 16 rehabilitation articles per year. The journals within Medline that publish the most rehabilitation articles are listed by topic area: geriatric rehabilitation, cardiac rehabilitation, pediatric rehabilitation, rehabilitation research, self-help devices, sports medicine and rheumatologic rehabilitation. Specific search strategies that may be used for any computer assisted search of Medline are given to locate articles in these topic areas and also the following areas: amputee rehabilitation, spinal cord injury rehabilitation, traumatic brain injury rehabilitation, cerebral palsy rehabilitation, stroke rehabilitation, decubitus care, electrodiagnosis, rehabilitation engineering, pain rehabilitation, pulmonary rehabilitation, sexual rehabilitation and urologic rehabilitation. The user friendly Grateful Med software is introduced for simplified online Medline searching. Exercises are provided for starting a journal club with the retrieved articles.

Humans↗
PubMed1984

Suicide among psychiatric patients of a district general hospital.

Twenty-two psychiatric patients who committed suicide while receiving hospital treatment or within 3 months of discharge from psychiatric care were studied using general population statistics, a random sample of 100 psychiatric patients and a control group matched individually with the hospital suicides. The rate of suicide among psychiatric in-patients was over 50 times that in the general population. A higher vulnerability to suicide was detected among in-patients (v. other patient groups), men (v. women) and middle-aged patients (v. older and younger patients). Suicides were differentiated from controls in having suffered more losses (P less than 0.05), being psychiatrically ill for the first time (P less than 0.05), having a past history of deliberate self-harm (P less than 0.05), and not receiving a schizophrenic diagnosis (P less than 0.02). People with mid-life crises, patients who swing rapidly into depression while receiving treatment, and individuals who are judged to be depressed because of personal problems may carry a particularly high suicide risk during psychiatric treatment.

Adult↗
PubMed2006

Comparative analysis of incidence and clinical features of cutaneous malignant melanoma in Crete (Greece) and southern Germany (central Baden-Württemberg).

BACKGROUND: Comparative analysis of the incidence rates and epidemiological features of cutaneous malignant melanoma (CMM) between different ethnic groups exposed to varying environmental factors is critical for consideration of the causes of CMM but can also be utilized in a public health approach to control of the disease. OBJECTIVES: To compare incidence rates and clinical features of CMM in a Greek and a central European population (central Baden-Württemberg, Germany). METHODS: Incident cases of CMM were traced in all hospitals of the island of Crete for the period 1999-2002. Age-standardized incidence rates per 100 000 inhabitants per year for the European Standard Population were calculated based on the Cretan population statistics. A comparison was performed between the Cretan findings and those of southern Germany as registered by the hospital-based Central Malignant Melanoma Registry, which likewise documents more clinical features than normally recorded by population-based cancer registries. RESULTS: Mean incidence rates in Crete for 1999-2002 were 4.01 per 100 000 inhabitants per year for males and 4.05 for females as compared with 10.6 for males and 11.1 for females in southern Germany. There were striking differences in the clinical characteristics of CMMs, with significantly higher tumour thickness in Crete (median 1.4 mm vs. 0.7 mm in southern Germany). Correspondingly, significantly more nodular melanomas were observed in Crete (29%) as compared with southern Germany (11%). CONCLUSIONS: Incidence of CMM in Crete, with about four cases per 100 000 inhabitants per year, is clearly higher than previously estimated, and there is an urgent necessity for earlier recognition of CMM in Crete. However, the incidence of CMM in southern Germany is much higher.

Adult↗
PubMed1996

Sleep and neuromuscular disease: frequency of sleep-disordered breathing in a neuromuscular disease clinic population.

We investigated 60 adult and pediatric patients (33 male, 27 female) with various neuromuscular disorders for sleep-disordered breathing in a clinic population at a local altitude of 1,500 m. Measurements included a questionnaire concerning symptoms of sleep and daytime function, a disability index, and pulmonary function tests. We used an EdenTrace monitor for 1 night to evaluate breathing during sleep and calculated mean and minimum oxygen saturation (SpO2), total apneas, hypopneas, and respiratory disturbance index (RDI). We had validated the EdenTrace II monitor prior to the study. The majority of the patients had symptoms of daytime dysfunction. The frequency of sleep-disordered breathing in this population was much higher (42% with RDI > 15) than frequencies indicated in recent population-based surveys. Spirometry revealed no positional effect in this population. Statistical analysis comparing RDI with disability index, pulmonary function tests, age, sex, body mass index, and Epworth Sleepiness Scales identified no strong correlates that could be used as predictors of sleep-disordered breathing in this population. Sleep studies using ambulatory equipment such as the EdenTrace II are an easy and effective means of identifying sleep-disordered breathing in patients with neuromuscular disorders and, given the high frequency of sleep-disordered breathing in our sample, should be performed on most patients with neuromuscular disorders if sleep-disordered breathing is to be identified early.

Adolescent↗
PubMedDate not supplied

Some considerations of multi-variate hospital statistics.

At the University Hospital in Kiel data on the medical care and administration of individual patients is collected in a hospital information system. The description leads to lists of all cases treated, arranged according to basic data descriptions, and to tabulations of aggregated data. The aim of these statistics is to provide an overview of the collected data. At present the statistics can do little more than offer some general impressions about the frequency of serious diseases requiring hospitalization and health-care needs of a particular region; this is because they are selected and therefore biased and misleading. An accurate epidemiological view of a region to evaluate the quality, efficiency and cost of its health-care system can only be obtained if all the hospitals in that area are producing summarized information. So correlation of population statistics, broken down by patients' residential area and the hospital means for evaluating the health-care demands and consumption of a particular population, and for regional planning when figures for catchment area and attraction rate are produced.

Adolescent↗
PubMed2003

Two years outcome of very pre-term and very low birthweight infants in Switzerland.

BACKGROUND: There are only few reports worldwide on the outcome of very pre-term infants and very low birthweight infants for a whole country. In Switzerland official population statistics are based on birthweight only, gestational age not yet being documented. AIM: The aim of the present study was to assess the outcome at two years of age for a geographically defined high-risk neonatal population based on both birthweight and gestational age. METHODS: All infants born in 1996 included in the Swiss Neonatal Network (a national anonymous registry established by the Swiss Society of Neonatology for liveborn infants before 32 completed gestational weeks or weighing less than 1500 g) were divided into three groups according to gestational age and birth weight: Group 1: born <32 completed gestational weeks and weighing =1500 g; group 2: born after 32 completed gestational weeks and weighing <1500 g; group 3: born <32 gestational weeks and weighing <1500 g. Information at 24 months corrected age about growth, neurological outcome, frequency of respiratory infections, prescription of antibiotics and medical consultations during this period was obtained from the paediatricians caring for the infants. Fair outcome was defined as survival without serious neonatal complications or abnormal neurological findings at 24 months corrected for prematurity. RESULTS: 723 infants were born alive in Switzerland between 1.1. and 31.12.1996 before 32 completed weeks or weighing less than 1500 g at birth. Mortality was 4.3% for a total of 163 infants in group 1 (<32 weeks, =1500 g), 4.6% for 108 infants in group 2 (>32 weeks, <1500 g) and 18.6% for 452 infants in group 3 (<32 weeks, <1500 g). 6.5% of group 1 survivors followed up to 24 months corrected age had a poor neurological outcome as compared to 9.3% in group 2 and 10.9% in group 3. Infants in group 1 needed antibiotics less often after hospital discharge (interquartile range IQR: 0-2 courses) than infants in group 2 (0-3 courses) and 3 (0-3 courses). Infants in group 2 suffered from fewer airway infections (interquartile range 2-5 times) than in group 1 (2-6 times) and 3 (1-7 times). Infants in group 3 needed more medical consultations (IQR 12-21) than those in group 1 (10-16) and 2 (11-16). The overall fair outcome at 24 months corrected age was 85.3% in group 1, 80.7% in group 2 and 59.6% in group 3. A close correlation between overall fair outcome and gestational age at birth on the one hand and with birthweight on the other can be observed. CONCLUSIONS: This study gives estimates for mortality, poor and fair outcome at 24 months corrected age for very low birth weight infants (<1500 g) and for very pre-term infants (<32 completed gestational weeks). Gestational age is as important for predicting outcome as birthweight and should therefore be integrated into national statistics.

Anti-Bacterial Agents↗
PubMed2001

Patterns of deletions and the distribution of breakpoints in the dystrophin gene in Czech patients with Duchenne and Becker muscular dystrophy (statistical comparison with results from several other countries).

Deletion pattern analysis of the dystrophin gene was performed in 115 unrelated Czech patients with Duchenne and Becker muscular dystrophy. In 50 patients (43.5% of the analysed patients) exon deletions were detected by routinely performed multiplex PCR for 18 selected exons and for the area of musclespecific promoter of the dystrophin gene. All startpoints and endpoints of deletions (100 breakpoints) were detected using PCRs for another 29 exon areas of the dystrophin gene (altogether primers for 47 different exons were used). Most of the breakpoints were found in introns 44 (16% of breakpoints), 47 (14%) and 50 (8%). The comparison of distributions of breakpoints in the area of the main hot spot of the dystrophin gene (introns 43-52) was made (chi 2 test in a contingency table) in six different populations from the Czech Republic, Bulgaria, Hungary, Italy, Turkey and India. In compared populations, statistically significant differences were found by the pooled test. No significant difference between the Czech population and other studied populations was found by pair comparisons. On the other hand, pair comparisons revealed significant differences between populations from Bulgaria and Hungary, Bulgaria and Turkey, Hungary and Italy. The results of the presented study support the theory suggested by other authors that specific differences in intron sequences of the dystrophin gene can exist between different populations, possibly as a result of a genetic drift.

Bulgaria↗
PubMed2003

Association study of the IL13 variant Arg110Gln in atopic diseases and juvenile idiopathic arthritis.

BACKGROUND: It has previously been shown that various inflammatory diseases, such as diabetes mellitus, bronchial asthma, chronic inflammatory bowel diseases, and rheumatoid arthritis, are in some circumstances genetically linked to the same chromosomal regions. Consequently, common genes underlying the pathogenetics of these diseases have been proposed. Chronic inflammatory disorders can be subdivided by their predominant immune response, either TH1 or TH2. For example, juvenile idiopathic arthritis (JIA) is a TH1 disease, and bronchial asthma is a TH2 disease. OBJECTIVES: The present study investigated the polymorphism Arg110Gln within the IL13 gene, a strong TH2 cytokine. We attempted to determine whether it is associated with these 2 diseases and whether this would reflect the TH1/TH2 paradigm. METHODS: Arg110Gln was typed in 4 different populations: asthmatic children, atopic children, children with JIA, and a control population. Statistical analysis was performed by using logistic and linear regression analysis of serum IgE levels and the Armitage trend test. RESULTS: The variant Gln110 was shown to be associated with increased total serum IgE levels in our atopic population (P =.006) and was weakly associated with bronchial asthma (P =.04). There was no association of the variant with JIA when compared with the control population. However, the variant Gln110 was significantly less frequent in children with JIA compared with its presence in children with bronchial asthma (P =.007). CONCLUSION: This is the first study to compare the same gene variant in TH1 and TH2 chronic inflammatory diseases. The results suggest that the same gene variant might protect from one disease and make an individual susceptible to the other.

Adolescent↗
PubMedDate not supplied

[Environmental and biological reference values of plant pesticides].

A wide range of studies concerned with the definition of environmental and biological reference values for plant pesticides is reviewed. All phases of data production are critically assessed, including sampling, sample preparation and analysis, choice of population, statistical analysis and expression of results. The importance of the studies for the definition of reference values useful in the sectors of environmental hygiene and occupational toxicology is also examined. Most of the studies were based on American populations, though work on reference values has also recently been done by Italian authors, particularly the SIVR, which has published data on 3,5,6-trichloro-2-pyridinol and ethylenethiourea in urine. Because the number of the studies is small and more detail about variables is needed, the lists of reference values, given separately for American and Italian populations, also include proposals and attempts at definition of reference values. When available, biological reference values (BRV) are given separately for adults and children, emphasising the greater intake of the infant population due to higher food intake per unit body weight and greater exposure to contaminants present in the domestic environment. BRVs for plant pesticides generally depend on factors such as smoking, wine consumption and diet, major sources of residue intake for the human population.

Biomarkers↗
PubMed2005

Some mathematical problems in the DNA identification of victims in the 2004 tsunami and similar mass fatalities.

DNA is a major and essential identification tool for mass fatality incidents including the hundreds of thousands of victims of the 2004 Indian Ocean tsunami. Mathematical complications characteristic of this sort of mass fatality include prevalence of related victims, the many races represented among the victims, and various identification modalities in tandem with DNA. Four mathematical problems of interest are discussed in this paper. (1) Other quantifiable factors (i.e. geography) can be formally accounted for by including a likelihood ratio that can be thought of as reducing the "effective number of victims." (2) When a victim is found and tentatively identified as V, but then it comes to light that the victim has a relative W who is also missing, confidence in the identity is depressed. To account for the existence of W, increment the effective number of victims by the likelihood ratio supporting W as the identity of the victim. (3) When several apparently related victims are found, their mutual identities should be calculated simultaneously. Compared to one-at-a-time, serial identifications, this is both logical and may lead to much more confidence in the identities. (4) Although there may be many different population groups represented among the missing, it is generally sufficient to consider population statistics for only a few of them in deciding whether to declare an identification.

DNA↗
PubMed1983

Familial predisposition to cancer and age at onset of disease in randomly selected cancer patients.

Incidence of malignancy among close relatives was used to evaluate the relationship of early age at diagnosis and familial cancer predisposition in a general population of cancer patients. The occurrence of cancer and other conditions in families of more than 1,350 randomly selected patients with a wide variety of malignancies was ascertained. Each patient was assigned to one of four study groups based on comparison of his age at diagnosis with the distribution of ages at diagnosis for his cancer site compiled by the Third National Cancer Survey. These groups consisted of patients whose ages at diagnosis were in: (1) the lowest decile, (2) the median decile, (3) above the median decile, and (4) between the lowest and median deciles. Person-years and calendar time at risk were calculated for first-degree relatives in each group. The numbers of cancers expected among these relatives were calculated using age- and time-specific incidence rates of a standard population. Statistical analysis of (1) the numbers of reported vs. expected cancers in relatives and (2) the numbers of families reporting cancer in parents or siblings of patients showed that a familial tendency to develop cancer exists in this randomly selected population of cancer patients, regardless of age at onset of malignancy in the proband. Conversely, early age at diagnosis of cancer may indicate genetic predisposition to malignancy only in exceptional cases.

Adolescent↗
PubMed1996

A genetic register for von Hippel-Lindau disease.

A genetic register for von Hippel-Lindau disease was set up in the north west of England in 1990. Population statistics, clinical features, age at onset, and survival of 83 people affected with von Hippel-Lindau (VHL) disease were studied. In addition, the effectiveness of the screening programme used and the occurrence of central nervous system haemangioblastomas in the general population were examined. The diagnostic point prevalence of heterozygotes in the North Western Region was 1 center dot 18/100 000 (1/85 000) people, with an estimated birth incidence of 2 center dot 20/100 000 (1/45 500) live births. The mutation rate was estimated directly to be 1 center dot 4 x 10(-6)/gene/generation (1/714 200). The mean age at onset of first symptoms was 26 center dot 25 years, with cerebellar haemangioblastoma being the most common presenting manifestation (34 center dot 9% of cases). The mean age at diagnosis of VHL disease was 30 center dot 87 years. Overall, 50 patients (60 center dot 2%) developed a cerebellar haemangioblastoma, 34 (41 center dot 0%) a retinal angioma, 21 (25 center dot 3%) a renal cell carcinoma, 12 (14 center dot 5%) a spinal haemangioblastoma, and 12 (14 center dot 5%) a phaeochromocytoma. Mean age at diagnosis of renal cell carcinoma (38 center dot 9 years) was significantly higher than that for cerebellar haemangioblastoma (30 center dot 0 years) and retinal angioma (21.1 years). Mean age at death was 40 center dot 9 years with cerebellar haemangioblastoma being the most common cause (47 center dot 7% of deaths). A total of 65 VHL manifestations were diagnosed asymptomatically following appropriate clinical and radiological screening tests, and failure to detect manifestations of VHL disease in spite of appropriate screening occurred on only two occasions. The use of DNA linkage analysis and direct mutation testing reduced the personal risk of carrying the VHL gene to below 1% in 14 people. In addition to the 83 clinically affected subjects, three obligate carriers who were considered to be lesion free in spite of extensive screening tests were identified. Fourteen percent of all CNS haemangioblastomas on the regionally based Cancer Registry were found to occur as part of VHL disease, but investigations for VHL in apparently sporadic disease appeared to be limited.

Adolescent↗
PubMedDate not supplied

New approaches to quantitative neuropathology: multivariate analysis of morphologic and neurochemical measures.

The excellent review by Coleman and Flood on neuropathological changes in normal aging and Alzheimer's disease highlights the need for development and application of computer-assisted image analysis to the study of neurons in these conditions. The morphological and neurochemical changes in normal and pathological aging require quantitation and statistical analysis that can be best performed with the assistance of the image and data processing capabilities of the computer. Advanced image processing systems are being developed to identify and classify neurons according to several intelligently chosen visual features, apply discriminant analysis and population statistics to this data, and correlate this information to other neurochemical measurements as well as the clinical history of the patient. Techniques such as immunocytochemistry, receptor autoradiography and in situ hybridization produce information-rich images of the distribution of proteins and nucleic acids in tissue slices that can be analyzed by this approach.

Aging↗
PubMed2004

Prevalence of overactive bladder and incontinence in Canada.

AIMS OF STUDY: The main objectives of the study were to measure the prevalence of overactive bladder (OAB) with its sub-types (wet OAB, dry OAB, mixed OAB) in the Canadian population and to assess prevalence variations in according to gender and age. METHODS: The prevalence of OAB in Canada was investigated via a validated, computer-assisted telephone interview (CATI) system. The interviews were conducted in two steps: an initial questionnaire evaluating if respondents suffered from OAB, followed by a detailed questionnaire completing the assessment. The final data were weighted according to the census of metropolitan areas and by gender, on the basis of Canadian population statistics. RESULTS: A sample of 3249 adults, aged 35 years and older, was interviewed with the CATI system. Six hundred and three respondents were found to suffer from wet OAB, dry OAB or mixed OAB. The overall prevalence of OAB in this Canadian population was evaluated to be 18.1%. It was lower in men (14.8%) than in women (21.2%). Dry OAB was assessed to be the highest sub-type, with a rate of 13.6%, 11.7% in men and 15.6% in women. The prevalence of wet OAB was estimated to be 2.3%, 2% in men and 2.6% in women. Finally, the prevalence of mixed OAB was found to be 1.2% in this population, with a much lower prevalence in men (0.3%) than in women (2.1%). Dry OAB increased with age in both men and women; wet OAB was markedly higher in both men and women over the age of 75 years. No correlation was observed between age and prevalence of mixed OAB in women, whereas a linear relationship was noted between the two variables in men. CONCLUSIONS: This is the first large study of OAB symptoms prevalence in the Canadian population aged 35 years and older. We established that OAB prevalence was higher in women than in men, with women experiencing more dry OAB and mixed OAB than men.

Adult↗
PubMed2002

[Statins and cerebrovascular events].

UNLABELLED: PREVENTION AND RISK REDUCTION: Statins consistently have shown an ability to reduce the incidence of ischemic stroke. Two meta-analyses corroborated prospective studies with statins and estimated a 30% risk reduction in stroke which is comparable to stroke reduction noted with aspirin. Stroke rate was evaluated in patients without known coronary artery disease in the West of Scotland Primary Prevention (WOSCOPS) trial. An 11% reduction in stroke was observed in WOSCOPS during 5-year follow-up that did not reach statistical significance (p = 0.57). Documentation of clinical benefit with reductions in stroke and coronary events and long-term safety is available only from statin trials with stroke defined as a secondary end point. The strongest evidence relates to patients with CHD. In this population, statistically highly significant reductions have been reported for stroke, cardiovascular mortality, nonfatal myocardial infarction, all-cause mortality, and need for cardiovascular procedures. CONCLUSIONS: Clinical benefit of statin use for stroke prevention in patients without coronary artery disease is not yet proven. Furthermore, it is unknown whether and to what extent differences in lipid and so-called nonlipid mechanisms, half-life, solubility, potency, and effects on other risk factors influence the clinical efficacy. Future trials will be needed to clarify this issue, particularly in patients with no history of coronary artery disease.

Anticholesteremic Agents↗
PubMed2006

The bovine fatty acid binding protein 4 gene is significantly associated with marbling and subcutaneous fat depth in Wagyu x Limousin F2 crosses.

Fatty acid binding protein 4 (FABP4), which is expressed in adipose tissue, interacts with peroxisome proliferator-activated receptors and binds to hormone-sensitive lipase and therefore, plays an important role in lipid metabolism and homeostasis in adipocytes. The objective of this study was to investigate associations of the bovine FABP4 gene with fat deposition. Both cDNA and genomic DNA sequences of the bovine gene were retrieved from the public databases and aligned to determine its genomic organization. Primers targeting two regions of the FABP4 gene were designed: from nucleotides 5433-6106 and from nucleotides 7417-7868 (AAFC01136716). Direct sequencing of polymerase chain reaction (PCR) products on two DNA pools from high- and low-marbling animals revealed two single nucleotide polymorphisms (SNPs): AAFC01136716.1:g.7516G>C and g.7713G>C. The former SNP, detected by PCR-restriction fragment length polymorphism using restriction enzyme MspA1I, was genotyped on 246 F2 animals in a Waygu x Limousin F2 reference population. Statistical analysis showed that the FABP4 genotype significantly affected marbling score (P = 0.0398) and subcutaneous fat depth (P = 0.0246). The FABP4 gene falls into a suggestive/significant quantitative trait loci interval for beef marbling that was previously reported on bovine chromosome 14 in three other populations.

Animals↗