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Summary health statistics for the U.S. population: National Health Interview Survey, 2000.

OBJECTIVES: This report presents health statistics from the 2000 National Health Interview Survey for the civilian noninstitutionalized population of the United States, classified by age, sex, race and Hispanic or Latino origin, family income, poverty status, education, place of residence, region of residence, and, where appropriate, health insurance coverage. The topics covered are health status and limitations in activities, special education or early intervention services, injuries and poisonings, health care access and utilization, and health insurance coverage. SOURCE OF DATA: The NHIS is a household, multistage probability sample survey conducted annually by interviewers of the U.S. Census Bureau for the Centers for Disease Control and Prevention, National Center for Health Statistics. Household interviews were completed for 100,618 persons living in 38,633 households, reflecting a household response rate of 89%. SELECTED HIGHLIGHTS: Nearly 7 in 10 persons were in excellent or very good health in 2000, and fewer than 1 in 10 were in fair or poor health. About 31 million people (11%) were limited in their usual activities due to one or more chronic health conditions, and about 3 million people (2%) required the help of another person with activities of daily living such as bathing and dressing. Persons with the least education and the lowest incomes were the most likely to be limited in their ability to work. About 5% of children received special education or early intervention services. The three leading causes of medically attended injury and poisoning episodes were falls, being struck by a person or an object, and transportation. Among people under age 65 years, about 40 million (17%) did not have any health insurance coverage.

Adolescent↗

Incidence of fractures on the distal radius and proximal femur: comparison of patients in a mental hospital and the general population.

A statistically significant increase in the incidence of fractures of the distal radius was found in the general population of southern Sweden during recent decades. As regards fractures of the proximal femur, an increase in the incidence of trochanteric fractures was observed only in women. In male patients at a mental hospital the fracture rate of the distal radius was the same as in the general population but the fracture rate of the proximal femur was about twelve times higher. In female patients at the same mental hospital the fracture rate of the distal radius was three times greater and that of proximal femur about seven times greater than that of the general population. This difference may not only be due to an increased skeletal fragility in patients in mental institutions but may also suggest poorer protective mechanisms against falls. Undiagnosed cardiovascular or neurological diseases, for example intermittent cardiac arrhythmia or transient cerebral ischaemic attacks, may cause falls. Early diagnosis and treatment of such diseases may reduce the number of fractures of the proximal femur.

Adult↗

Nasalance statistics for two Mexican populations.

OBJECTIVES: This study was undertaken (1) to obtain nasalance statistics for 152 Spanish-speaking normal males and females in three age groups (young children, older children, and adults) from two cities in central Mexico, (2) to determine the reliability of nasalance statistics, and (3) to test whether cities, age group, and/or gender significantly affected nasalance scores. DESIGN/PARTICIPANTS: Randomly selected volunteers, screened for normal speech and hearing, in two middle-class neighborhoods in each city participated. SETTINGS: Measures were made in private homes. MEASURES: Eight nasalance measures were obtained: means, "deviations," maxima, and minima for two sets of sentences; one set that contained no nasals (NN); and another set that included sentences containing several words with nasal sounds (N). RESULTS: Reliability (Cronbach's alpha) of the measures was demonstrated to be very high (0.87 to 0.95). Eight multivariate analyses of variance, one for each type of measure, were performed. Significant differences among subgroups were limited to four: (1) cities differed in their NN means, (2) age groups differed in their NN minima, (3) cities differed in their N minima, and (4) genders differed in their N minima. (Bonferroni adjusted alphas = 0.05).

Adolescent↗

Polaris: Polarization of ancestral and derived polymorphic alleles for inferences of extended haplotype homozygosity in human populations.

SUMMARY: Statistical methods that measure the extent of haplotype homozygosity on chromosomes have been highly informative for identifying episodes of recent selection. For example, the integrated haplotype score (iHS) and the extended haplotype homozygosity (EHH) statistics detect long-range haplotype structure around derived and ancestral alleles indicative of classic and soft selective sweeps, respectively. However, to our knowledge, there are currently no publicly available methods that classify ancestral and derived alleles in genomic datasets for the purpose of quantifying the extent of haplotype homozygosity. Here, we introduce the Polaris package, which polarizes chromosomal variants into ancestral and derived alleles and creates corresponding genetic maps for analysis by selscan and HaploSweep, two versatile haplotype-based programs that perform scans for selection. With the input files generated by Polaris, selscan and/or HaploSweep can produce the appropriate sign (either positive or negative) for outlier iHS statistics, enabling users to distinguish between selection on derived or ancestral alleles. In addition, Polaris can convert the numerical output of these analyses into graphical representations of selective sweeps, increasing the functionality of our software. RESULTS: To demonstrate the utility of our approach, we applied the Polaris package to Chromosome 2 in the European Finnish, Middle Eastern Bedouin, and East African Maasai populations. More specifically, we examined the regulatory sequence in intron 13 of the MCM6 gene associated with lactase persistence (i.e. the ability to digest the lactose sugar present in fresh milk), a region of intense interest to human evolutionary geneticists. Our analyses showed that derived alleles (at known enhancers for lactase expression) sit on an extended haplotype background in the Finnish, Bedouin, and Maasai consistent with a classic selective sweep model as determined by iHS and EHH statistics. Importantly, we were able to immediately identify this target allele under selection based on the information generated by our software. We also explored outlier statistics across Chromosome 2 in two distinct datasets from these populations: (i) one containing polarized alleles generated with Polaris and (ii) the other containing unpolarized alleles in the original phased vcf file. Here, we found an excess of outlier statistics on Chromosome 2 in the unpolarized datasets, raising the possibility that a subset of these "hits" of selection may be unreliable. Overall, Polaris is a versatile package that enables users to efficiently explore, interpret, and report signals of recent selection in genomic datasets. AVAILABILITY AND IMPLEMENTATION: The Polaris package is free and open source on GitHub (https://github.com/alisi1989/Polaris) and DropBox (https://www.dropbox.com/scl/fo/mlxizft5267vem9u62qkn/AAnM0qX923zPzQBlPX8iteM?rlkey=uezrp4t2waffpj0nmo1evr320&e=1&st=jaodccws&dl=0).

Haplotypes↗

A hierarchical statistical model for estimating population properties of quantitative genes.

BACKGROUND: Earlier methods for detecting major genes responsible for a quantitative trait rely critically upon a well-structured pedigree in which the segregation pattern of genes exactly follow Mendelian inheritance laws. However, for many outcrossing species, such pedigrees are not available and genes also display population properties. RESULTS: In this paper, a hierarchical statistical model is proposed to monitor the existence of a major gene based on its segregation and transmission across two successive generations. The model is implemented with an EM algorithm to provide maximum likelihood estimates for genetic parameters of the major locus. This new method is successfully applied to identify an additive gene having a large effect on stem height growth of aspen trees. The estimates of population genetic parameters for this major gene can be generalized to the original breeding population from which the parents were sampled. A simulation study is presented to evaluate finite sample properties of the model. CONCLUSIONS: A hierarchical model was derived for detecting major genes affecting a quantitative trait based on progeny tests of outcrossing species. The new model takes into account the population genetic properties of genes and is expected to enhance the accuracy, precision and power of gene detection.

Algorithms↗

Population registers: some administrative and statistical pros and cons.

The advantages and disadvantages of introducing a central population register are discussed in the context of the United Kingdom. The discussion covers a range of issues, including "justice, fairness, freedom, privacy, efficiency, the fight against crime and fraud, and relations between the government and the community." The author describes the use of population registers in other European countries, the statistical implications of better population registers, the various population records that do exist in the United Kingdom, and the proposal to introduce identity cards in Australia. A summary of a discussion that took place following presentation of the paper at the Royal Statistical Society is included (pp. 28-41).

Data Collection↗

Adaptation and extinction in changing environments.

The extinction risk of a population is determined by its demographic properties, the environmental conditions to which it is exposed, and its genetic potential to cope with and adapt to its environment. All these factors may have stochastic as well as directional components. The present chapter reviews several types of models concerned with the vulnerability of small populations to demographic stochasticity and to random and directional changes of the environment. In particular, the influence of mutation and genetic variability on the persistence time of a population is explored, critical rates for environmental change are estimated beyond which extinction on time scales of tens to a few thousand generations is virtually certain, and the extinction risks caused by the above mentioned factors are compared.

Adaptation, Physiological↗

Emergence of asymmetry in evolution.

We investigate symmetry-breaking bifurcation patterns in evolution in the framework of adaptive dynamics (AD). We define weak and strong symmetry. The former applies for populations where only the simultaneous reflection of all individuals is an invariant transformation. The symmetry is strong in populations where reflection of some, but not all, individuals leaves the situation unchanged. We show that in case of weak symmetry evolutionary branching can lead to the emergence of two asymmetric variants, which are mirror images of each other, and the loss of the symmetric ancestor. We also show that in case of strong symmetry, evolutionary branching can occur into a symmetric and an asymmetric variant, both of which survive. The latter, asymmetric branching differs from the generic branching patterns of AD, which is always symmetric. We discuss biological examples for weak and strong symmetries and a specific model producing the new kind of branching.

Animals↗

Respiratory rhythm: an emergent network property?

We tested the hypothesis that pacemaker neurons generate breathing rhythm in mammals. We monitored respiratory-related motor nerve rhythm in neonatal rodent slice preparations. Blockade of the persistent sodium current (I(NaP)), which was postulated to underlie voltage-dependent bursting in respiratory pacemaker neurons, with riluzole (< or =200 microM) did not alter the frequency of respiratory-related motor output. Yet, in every pacemaker neuron recorded (50/50), bursting was abolished at much lower concentrations of riluzole (< or =20 microM). Thus, eliminating the pacemaker population (our statistics confirm that this population is reduced at least 94%, p < 0.05) does not affect respiratory rhythm. These results suggest that voltage-dependent bursting in pacemaker neurons is not essential for respiratory rhythmogenesis, which may instead be an emergent network property.

Action Potentials↗

Genetic polymorphisms of the apolipoprotein A-IV in a Greek population and their relation to plasma lipid and lipoprotein levels.

Apolipoprotein (apo) A-IV is a protein component of triglyceride-rich lipoproteins and high-density lipoproteins (HDL). In this study, two common genetic polymorphisms of the apoA-IV gene [codons 347(allele A and T) and 360 (allele 1 and 2)] were investigated in Greek patients with hyperlipidaemia and in healthy individuals matched for age, sex and smoking habits. In both study populations we evaluated the effect of these polymorphic sites on lipid and lipoprotein plasma levels and the body mass index (BMI). The frequencies of the 1/1 and 1/2 genotypes in codon 360 were 0.94 and 0.06 in hyperlipidemic patients and 0.92 and 0.08 in the control population, respectively. The frequencies of the A/A, A/T and T/T genotypes in codon 347 were 0.62, 0.34 and 0.04 in hyperlipidemic patients and 0.59, 0.33 and 0.08 in the control population, respectively. None of the above genotype frequency differences between the study populations reached statistical significance. The control population was not affected by any polymorphism of the apo A-IV gene. Hyperlipidaemic patients, carriers of the allele 2 (1/2 genotype), had significantly lower plasma triglyceride levels than carriers of the allele 1 (p = 0.03). Genetic variation in codon 347 had no influence on lipid and lipoprotein plasma levels. None of the polymorphisms at codons 360 and 347 affected the BMI. In conclusion, this study describes for the first time the genotype frequencies for polymorphic sites in codons 360 and 347 of the apo A-IV gene in a Greek population and suggests that the presence of the allele 2 is associated with lower plasma triglyceride levels in hyperlipidaemic patients.

Apolipoproteins A↗

Major complications and causes of death in patients treated for Hodgkin's disease.

A total of 340 patients with Hodgkin's disease were evaluated for the occurrence of intercurrent fatalities after treatment with radiotherapy, chemotherapy, combined modality therapy, and salvage chemotherapy. Mean follow-up time was 76.6 months. Causes of death were compared with the expected risk, calculated from mortality statistics of the Netherlands' population. Sixty-seven patients died of progressive Hodgkin's disease, whereas 37 patients died of causes unrelated to advanced disease. Patients showed an increased risk of dying of leukemia and solid tumors (P less than .001), whereas the risk of dying of cardiovascular complications was not increased. The 10-year actuarial risk of dying of leukemia varied between 0% for patients treated with radiotherapy only and 5.7% for those needing salvage chemotherapy. The 10-year risk of dying of solid tumors was 0% for patients treated with chemotherapy and 6.5% for those receiving radiotherapy. Treatment-related fatalities were highest after combined modality therapy (P less than .025); the corresponding 10-year risk was 6.1%. Compared with younger ones, patients greater than or equal to 40 years had an increased risk of dying of causes unrelated to progressive Hodgkin's diseases. The actuarial risk of developing intercurrent fatalities at 10 years was 4.9% in patients less than 40 years, and 34.7% in those greater than or equal to 40 years (P less than .001). Compared with population based statistics, patients successfully treated for Hodgkin's disease still showed an increased risk of dying (P less than .001). Treatment modality, stage, and histologic subtype were not predictors of intercurrent death.

Actuarial Analysis↗

Designing case-control studies.

Identification of confounding factors, evaluation of their influence on cause-effect associations, and the introduction of appropriate ways to account for these factors are important considerations in designing case-control studies. This paper presents designs useful for these purposes, after first providing a statistical definition of a confounding factor. Differences in the ability to identify and evaluate confounding factors and estimate disease risk between designs employing stratification (matching) and designs randomly sampling cases and controls are noted. Linear logistic models for the analysis of data from such designs are described and are shown to liberalize design requirements and to increase relative risk estimation efficiency. The methods are applied to data from a multiple factor investigation of lung cancer patients and controls.

Disease↗