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[Complex medico-genetic study of the population of western Siberia. III. Distribution of phenotypes and gene frequencies in the northern Khanty population].

Distribution of phenotypes and gene frequencies for 5 polymorphic loci as well as frequencies of incidence of some anthroposcopic parameters in five subpopulations of the North Khanty population is presented. A comparative analysis was performed for the traits studied among the people of Finno-Ugric group and of North Asia. Wahlund's variance values point to significant subdivision of the population in question. Disruption of the Hardy-Weinberg equilibrium for haptoglobin locus was observed in two subpopulations. Estimates of inbreeding coefficients obtained by different ways (from gene frequencies, genealogy and isonymy) are compared.

Anthropometry↗

Institutional care at the age of 79 in an urban population--an analysis from a longitudinal population study.

The need of institutional care is strongly correlated to age. In the population, that is between 70 and 79 years of age the proportion of patients in long-term medical care units increases twenty-fold. The present investigation is a part of the longitudinal population study of 70-year-olds who have been followed to 79 years of age in Göteborg. A representative sample of 79-year-old men and women has been investigated. At this age 8.7 per cent of the men and 8.3 per cent of the women were living in medical and social institutions. Institutionalization was defined as constant care outside the patient's home for at least three successive months at the time of the investigation. The percentage of men living in somatic long-term medical care facilities was 4.3, while for women it was 2.4. The corresponding figures for psychiatric long-term care were 1.9 per cent for men and 1.8 per cent for women. 1.9 per cent of the men and 3.7 per cent of the women had moved to old people's homes where the subjects are expected to manage their own daily activities. Among the institutionalized probands only 7 per cent of the women were married, while this was the case for 43 per cent of the men. The subjects in psychiatric long-term care had the longest nursing time, i.e. about 20 years, while in the other types of institutions this time was about 3 years. The longitudinal strategy makes it possible to describe age-related changes in the background factors behind institutionalization.

Aged↗

[Multiyear prospective study of ischemic heart disease among a selected male population from one of the districts of Moscow. A comparison of the data from repeat examinations of the chosen population after 6 1/2 years].

The findings of a prospective follow-up of a selective male population whose ages ranged from 50 to 59 years are discussed. Two one-stage examinations were conducted at an interval of 6 1/2 years. A marked increase in the incidence of various forms of ischemic heart disease and its risk factors was noted. Growth of the entropy of the distribution of the forms of ischemic heart disease, ECG changes, and risk factors was also revealed, which reflected the unidirectional process of ageing of the population associated with the accumulation of "pathology" with time.

Angina Pectoris↗

a-b ridge count in a Basque population: fluctuating asymmetry and comparison with other populations.

We have analyzed the a-b ridge count and its fluctuating asymmetry in a sample (331 males and 290 females) from the Basque region of Alava province, Spain. Significant bimanual differences in the a-b ridge count are apparent only for females, and the sexual differences are significant for both hands. A comparison of the results in the Alava Basque population with results for other Basque populations showed sexual dimorphism. The results for fluctuating asymmetry do not support the hypothesis that if the regression of fluctuating asymmetry on the right and left hands is quadratic, the fluctuating asymmetry is a result of developmental homeostasis. Our data seem to indicate also that the factors that determine the a-b ridge count are canalized in females and males in the same way.

Analysis of Variance↗

[A population genetics analysis of the structure of hybrid populations of Rana esculenta L. complex (Amphibia, Ranidae)].

Population-genetic analysis conducted in hybrid populations of Rana esculenta complex from neighbourhood of Kiev has shown a high portion of recombinant frogs within Rana esculenta specimens and limitation of gene flows from one species to the other. The mechanisms of limitations are connected with assortative crossings within R. ridibunda and R. lessonae and low viability of frogs with a recombined genotype.

Animals↗

Molecular studies of Mendelian disorders, embryonic neoplasias, and polymorphisms in selected samples of the general population. A contribution to the genetic characterization of the Mexican population.

Molecular studies using polymerase chain reaction (PCR) and restriction enzymes, as well as intragenic STRs and newly designed primers, were performed in patients with Duchenne-Becker muscular dystrophy, sickle cell anemia, retinoblastoma, and nephroblastoma. The usefulness of these methodologies in the precise identification of mutational changes, in carrier detection and in the understanding of neoplastic transformations, as well as its applications in genetic counseling and prenatal diagnosis, are discussed. In addition, genetic polymorphisms in the beta globin gene cluster and in mtDNA were investigated. All these studies, the first performed in our population, contribute to establish the genetic origin and to a better characterization of the Mexican population.

Adolescent↗

[Genetic-demographic processes in the Muscovite population in the mid-1990s. Migration and emigration as a factor for changing the genetic diversity of the population].

On the basis of official migration statistics and marriage records, the genetic parameters of migration in the Moscow population over the past 120 years were determined. Although the number of officially registered migrants decreased, the coefficient of marriage migration in the mid-1990s was higher than in the mid-1980s (m = 0.4). The in-migrants considerably differed from Moscow-born residents with respect to their age at marriage, ethnicity, level of education, and speciality. The emigration of the Moscow residents to foreign countries was selective with respect to the educational level and adversely affected the labor, intellectual, and cultural resources of Moscow (the "braindrain"). In the long run, the observed ethnic differences between in-migrants and emigrants may considerably influence the ethnic composition and, hence, genetic diversity of the Moscow population.

Demography↗

Population scenarios for the European Economic Area: components of population growth.

"This article examines the individual contribution of the constituent components of population growth (fertility, mortality and net external migration) for the European Economic Area (EEA) and its countries. Section 2 describes the general outline of the scenarios for the countries of the EEA. Section 3 gives the main results for the EEA, whereas section 4 elaborates on the countries of the EEA."

Demography↗

[Medico-genetic study of the population of Kostroma Province. VI. The parameters of isolation by distance in the populations of the Bui and Shar'ya Districts of Kostroma Province].

A model of isolation by distance proposed by Malécot and developed by Morton is applied to the data on marriage distances collected in two regions of Kostroma Province. There is good agreement between the estimates of local inbreeding when using the isonymy method and the model of isolation by distance. Interpopulation kinship approaches 0 at the distance 700 km. The mean coefficient of kinship for parents in the families with autosomal-recessive pathology is 20 times higher than mean coefficient of kinship in the population.

Consanguinity↗

[Medico-genetic study of the population of Kostroma Province. VII. Approaches to the study of the hereditary pathology load in the population of Kostroma].

Complex medical-genetic study was performed in the center of Kostroma Province with the population of about 250 thousands. A method for ascertainment of patients was developed and the information value of different sources of a registration system available is given. The complete algorithm of calculation of both the segregation frequency and the fraction of sporadic cases for autosomal recessive diseases is presented.

Adult↗

Comparison of population pharmacokinetic modeling methods using simulated data: results from the Population Modeling Workgroup.

Statistical modeling methods have had increasing use in drug disposition studies, both to estimate pharmacokinetic parameters and to develop regression models that relate these parameter estimates to patient characteristics. These methods are particularly flexible as they allow non-linearity and sparse within-patient information. In the past few years, multiple analysis methods have become available, but there is a lack of systematic comparisons of their estimates on the same data sets. Two simulated data sets were therefore developed by the Population Modeling Workgroup of the Biopharmaceutical Section of the American Statistical Association. We analysed these data sets using seven population modeling programs, some of which contain multiple analysis methods. Although each data set represents a single replicate from a given model and data collection design, the results suggest that the behaviour of some methods differs from that of the others.

Anti-Arrhythmia Agents↗

A population-based study of lung carcinoma in Pennsylvania: comparison of Veterans Administration and civilian populations.

BACKGROUND: Lung carcinoma remains the major cause of cancer death in North America and is even more common among military veterans. The objective of this study was to determine whether there were differences in the characteristics and survival of Pennsylvania patients with lung carcinoma in the Veterans Administration (VA) hospital system compared with patients in the rest of the state. METHODS: The Pennsylvania Cancer Registry was used to identify all patients who were diagnosed with lung carcinoma in the State of Pennsylvania from 1995 to 1999. Patients who were treated within the Veterans Administration Health Care Network were identified by hospital code. Survival from the date of diagnosis of lung carcinoma was determined by using the Pennsylvania state mortality files from 1995 to 2001. RESULTS: From 1995 to 1999, 48,994 patients were newly diagnosed with lung carcinoma in Pennsylvania (41.2% women), including 856 patients in the VA system (6 women). The current analysis was restricted to male patients (n = 28,798 men). There was no major difference in age of VA patients compared with non-VA patients, and the proportions of patients who had localized or regional stage disease were similar (49% of VA patients vs. 48% of non-VA patients). The proportion of black patients was much higher in the VA population (23%) compared with the non-VA population (9%). The median survival was 6.3 months for VA patients compared with 7.9 months for patients in the rest of the state, and the 5-year overall survival rate was 12% for VA patients compared with 15% for patients in the rest of the state. When survival was analyzed according to race, there was a significant difference in the age-adjusted survival of white patients in the VA system compared with patients in the rest of the state (P = 0.0007), but no significant difference was observed among black patients (P = 0.92). CONCLUSIONS: The overall survival of VA patients with lung carcinoma in Pennsylvania was inferior to that of patients in the remainder of the state and this was due primarily to differences in survival among the white patients. Further investigation will be necessary to determine whether this disparity was caused by differences in socioeconomic status or comorbidities or whether there are systematic differences in the diagnosis, staging, or treatment of lung carcinoma between VA patients and civilian patients.

Aged↗

Short tandem repeat (STR) system HumD21S11: population genetic study on an Italian population.

Allele frequencies of the Short Tandem Repeat locus HumD21S11 were determined analysing 119 unrelated individuals from the area of Milano (Northern Italy). A total of 13 alleles was detected. One allele (< 26) was found which has never been observed in a wider German population sample. The system showed neither significant deviation from Hardy-Weinberg equilibrium nor significant differences with a German population sample.

Gene Frequency↗

Reference database of biochemical markers of bone turnover for the Japanese female population. Japanese Population-based Osteoporosis (JPOS) Study.

The present study was conducted as a part of the Japanese Population-based Osteoporosis (JPOS) Study to establish reference values on the biochemical markers of bone turnover in the general Japanese female population over an applicable age range. The study recruited 3250 women aged 15-79 years, randomly selected from five municipalities throughout Japan, and obtained measurements of serum osteocalcin (OC) and bone-specific alkaline phosphatase (BAP); free and total forms of immunoreactive deoxypyridinoline, free pyridinolines and type I collagen cross-linked C-terminal telopeptide (CTx) in urine; serum intact parathyroid hormone (PTH) and 1,25 dihydroxy vitamin D (1,25 (OH)2D); and bone density at the spine, hip and distal forearm. After excluding subjects with apparent or suggested abnormalities affecting bone mass, 2535 (78%) subjects were further analyzed. The authors presented 5-year age-specific mean values of the markers and mean marker levels derived from women aged 30-44 years with normal bone density as a healthy young adult reference. Values of the markers decreased with increasing age before the age of 40, increased steeply among subjects in their 50s, and remained elevated in the elderly. Serum calcium, phosphorus, PTH and 1,25 (OH)2D levels were higher in postmenopausal women than in premenopausal women. However, 1,25 (OH)2D was lower among early postmenopausal subjects. The levels of OC, BAP, CTx, PTH and 1,25(OH)2D were significantly greater for women with osteoporosis than for those without. The diagnostic value of the markers was limited as the sensitivity and specificity ranged from 55% to 60%. These findings will aid health professionals in the correct assessment of bone turnover status in Japanese women over a wide range of age.

Adolescent↗

Bone mineral density of the spine, hip and distal forearm in representative samples of the Japanese female population: Japanese Population-Based Osteoporosis (JPOS) Study.

Low bone mineral density (BMD) is one of the most important elements for the diagnosis of osteoporosis and screening people with higher risk of fractures. To establish the criterion value of BMD for the diagnosis of osteoporosis and to estimate the prevalence rate of osteoporosis in Japanese women, we performed a Japanese population-based osteoporosis (JPOS) study. The subjects were 4550 women aged 15 through 79 years randomly selected from seven municipalities throughout Japan. The sample size was determined to ensure that the observed mean BMD would remain within 2.5% from the real value with a probability of 0.95 in each of the 5-year age groups. The study comprised bone mass measurements by dual-energy X-ray absorptiometry at the spine (L2-4), hip and distal forearm, body size measurements and detailed interviews on medical and gynecologic history. After excluding those subjects with apparent or suggested abnormalities affecting bone mass from 3985 women (87.6%) who completed the study, 3465 women remained and served as the subjects. We present 5-year age-specific mean values of BMD and cut-off values for the diagnosis of osteoporosis according to World Health Organization (WHO) and the Japanese Society of Bone and Mineral Research (JSBMR) criteria. The cut-off levels at the spine and the distal radius proposed in this study were similar to those proposed by the JSBMR but the cut-off level at the femoral neck in this study was 4.7% higher than that of the JSBMR. The prevalence rates of osteoporosis according to WHO criteria in the present subjects aged 50 through 79 years were calculated as 38.0% at the spine, 11.6% at the femoral neck and 56.8% at the distal one-third site of the radius, and those in the Japanese female population of the same age were estimated to be 35.1%, 9.4% and 51.2%, respectively. A fivefold difference was observed among the prevalence rates at different skeletal sites, which suggests that the different definitions of osteoporosis should be established for the different skeletal sites. The prevalence rate diagnosed at the femoral neck seemed to be lower in the present study than those reported for Caucasians. This might account for a lower incidence rate of hip fracture in Japanese women.

Absorptiometry, Photon↗

Short tandem repeat HumACTBP2 (SE33) and HumVWA: population genetic study on a north Italian population.

Allele frequencies at the short tandem repeat (STR) loci HumACTBP2 and HumVWA were determined in 118 unrelated individuals from Northern Italy (Milan area). For locus HumACTBP2 (SE33) a total of 39 alleles was observed. Furthermore, two interalleles (N18m+N19m) and one allele (> N35) were found which were not observed in a wider German population survey (n = 560). For the STR system HumVWA, 7 alleles could be detected. Both systems showed no significant deviation from Hardy-Weinberg equilibrium. A comparison of Italian and German population data revealed no significant differences for locus HumVWA, while significant differences were observed for locus HumACTBP2.

Actins↗

The STR loci HumTPO and HumLPL: population genetic data in eight populations.

The two STR systems HumTPO and HumLPL were investigated in eight human populations (Moroccans, Ovambos, Papuans, Australian aborigines, Germans, Turks, Japanese and Chinese). After electrophoresis, seven and eight alleles were identified in the HumTPO and HumLPL systems, respectively. In each population, no deviations from Hardy-Weinberg equilibrium were observed, but considerable differences in phenotype frequencies of each system were found between major ethnic groups.

Ethnicity↗