Reference Population (reference + population)

Distribution by Scientific Domains
Distribution within Medical Sciences


Selected Abstracts


Health-related Quality of Life of People with Epilepsy Compared with a General Reference Population: A Tunisian Study

EPILEPSIA, Issue 7 2004
Hela Mrabet
Summary:,Purpose: The goal of the study was to assess the health-related quality of life (HRQOL) of persons with epilepsy (PWE) by using the short form survey 36 (SF-36), to compare it with that of a control group and to detect factors influencing it. Methods: We collected clinical and demographic data and information on health status by using the Arabic translation of the SF-36 questionnaire from two groups: (a) 120 PWE consulting our outpatient clinic during a period of 4 months, and (b) 110 Tunisian citizens, representative of the Tunisian general population, as a control group. Results: The mean age of PWE group was 32.74 years, and 45.5% were men. Idiopathic generalized epilepsies were observed in 44.5% of cases, and symptomatic partial epilepsies, in 30%. The most commonly prescribed drug was sodium valproate (VPA). For the SF-36, PWE had lower scores than the control group for only three subscales: general health perception, mental health, and social functioning. Seizure frequency, time since last seizure, and the antiepileptic drug (AED) side effects were the most important variables influencing the HRQOL among PWE. Seizure-free adults have HRQOL levels comparable to those of the control group. Sociodemographic variables had no influence on the SF-36 subscales. Conclusions: HRQOL is impaired in Tunisian PWE. The influencing factors identified in this study differ from the previously published data. Several possible reasons such as family support and cultural and religious beliefs are proposed to explain these cross-cultural differences. A larger study should be conducted to verify such findings. [source]


Lifestyle, participation, and health-related quality of life in adolescents and young adults with myelomeningocele

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2009
LAURIEN M BUFFART PHD
This study aimed to describe participation and health-related quality of life (HRQoL) in adolescents and young adults with myelomeningocele and to explore their relationships with lifestyle-related factors. Fifty-one individuals with a mean age of 21 years 1 month (SD 4y 6mo) years participated (26 males, 25 females; 82% hydrocephalus, 55% wheelchair-dependent). Participation was assessed using the Life Habits Questionnaire, and HRQoL was assessed using the Medical Outcomes Study 36-item Short-form Health Survey. Physical activity was measured using an accelerometry-based activity monitor, fitness (peak oxygen uptake) was measured during a maximal exercise test, and the sum of four skin-folds was assessed to indicate body fat. Relationships were studied using logistic regression analyses. Of the participants, 63% had difficulties in daily activities and 59% in social roles. Participants perceived lower physical HRQoL than a Dutch reference population. Participants with higher levels of physical activity and fitness had fewer difficulties in participating in daily activities (odds ratio [OR]=8.8, p=0.02 and OR=29.7, p=0.02 respectively) and a higher physical HRQoL (OR=4.8, p=0.02 and OR=30.2, p=0.006 respectively), but not mental HRQoL. Body fat was not related to participation or HRQoL. In conclusion, a large proportion of individuals with myelomeningocele had difficulties in participation and perceived low physical HRQoL. Higher levels of physical activity and fitness were related to fewer difficulties in participation and higher physical HRQoL. [source]


Homozygous thermolabile variant of the methylenetetrahy-drofolate reductase gene: a potential risk factor for hyperhomo-cysteinaemia, CVD, and stroke in childhood

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2001
Mara Prengler
In this study of 118 children (median age 5.1 years; range 6 months to 17 years) with ischaemic stroke or transient ischaemic attack (TIA), 22 children (19%) were homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase allele (t-MTHFR), compared with nine of 78 (12%) of a reference population (p=0.18, OR 1.76, 95% CI 0.76 to 4.04). Of those with cerebrovascular disease (CVD), 17 of 84 were homozygous for the t-MTHFR allele (p=0.13 compared with the reference population (OR 1.95, 95% CI 0.81 to 4.65). There was a significant (p<0.025) increment of plasma total homocysteine concentration in homozygotes for the t-MTHFR allele compared with heterozygotes, negatives for the t-MTHFR allele, and control children with no history of stroke. In four of 12 homozygotes for the t-MTHFR allele, plasma homocysteine levels were raised, compared with three of 38 of those who were negative or heterozygous (p=0.047; OR 5.8, 95% CI 1.1 to 31.2). Homozygotes for the t-MTHFR allele were significantly more likely to have a recurrent event than those who were negative or heterozygous (Cox regression p=0.031, hazard ratio 2.18, 95% CI 1.08 to 4.42). These data suggest that homozygosity for the t-MTHFR allele is associated with raised homocysteine levels in children and is a risk factor for primary and secondary stroke and TIA. [source]


Psychological effects of prevention: do participants of a type 2 diabetes prevention program experience increased mental distress?

DIABETES/METABOLISM: RESEARCH AND REVIEWS, Issue 1 2009
Katrin E. Giel
Abstract Objective To evaluate the mental health outcome of a lifestyle intervention for the prevention of type 2 diabetes and to exclude possible harmful psychological effects. Background There is little empirical data on potential harmful effects of prevention programs. However, information, education, diagnostic procedures, phenotyping and risk assessment may cause or intensify psychological distress such as anxiety, depression or somatization in vulnerable individuals. Methods The Tuebingen Lifestyle Intervention Program (TULIP) for the prevention of type 2 diabetes has assessed mental health outcome in the participants after 9 months of program participation using the Symptom Checklist-90-R (SCL-90-R). The 24-months lifestyle intervention TULIP comprises regular exercise and changes in nutrition and assesses both, a broad range of somatic parameters as well as psychometric variables. For an interim analysis of psychological outcome, complete data sets of the SCL-90-R assessed at baseline and after 9 months of intervention were available for 195 participants (125 females, 70 males; age: 46.1 ± 10.6 years). Data on somatization, anxiety, depression and overall psychological distress were compared to baseline levels. Results SCL-90-R scores of the TULIP-participants did not significantly differ from the German healthy reference population. Compared to baseline, a significant decrease in SCL-90-R scores was found for anxiety, depression and overall psychological distress at re-assessment after 9 months. Conclusion The interim analysis on mental health outcome of a type 2 diabetes prevention program comprising extensive phenotyping and risk assessment rules out adverse psychological effects, suggesting rather beneficial changes concerning symptoms of anxiety, depression and overall psychological distress. Copyright © 2009 John Wiley & Sons, Ltd. [source]


Variability in the upper limit of normal for serum alanine aminotransferase levels: A statewide study,

HEPATOLOGY, Issue 6 2009
Anand Dutta
We conducted a study to characterize the variability in the upper limit of normal (ULN) for alanine aminotransferase (ALT) across different laboratories (labs) in Indiana and to understand factors leading to such variability. A survey was mailed to all eligible labs (n = 108) in Indiana, and the response rate was 62%. The survey queried for ALT ULN, the type of chemical analyzer used, five College of American Pathologists (CAP) sample results, and methods used to establish the reference interval. There was a wide variability in the ALT ULN for both men and women. Eighty-five percent of labs used chemical analyzers belonging to one of the four brands. For all five CAP samples, there was a statistically significant difference in ALT values measured by different analyzers (P < 0.0001), but these differences were not clinically significant. The majority of labs used the manufacturers' recommendations for establishing their ALT ULN rather than in-house healthy volunteer testing (only 17%). When healthy volunteers were tested, the process for testing was haphazard in terms of the number of individuals tested, frequency of testing, and criteria for choosing the reference population. After controlling for chemical analyzer type, there was no significant relationship between ALT ULN values and the method used for its establishment. Conclusion: Wide variability in ALT ULN across different labs is more likely due to variable reference intervals of different chemical analyzers. It may be possible to minimize variability in ALT ULN by (1) each lab solely following the manufacturers' recommendations and (2) manufacturers of different analyzers following consistent and rigorous methodology in establishing the reference range. Alternatively, studies should be undertaken to identify outcome-based reference intervals for ALT. (HEPATOLOGY 2009.) [source]


Hepatopancreatic multi-transcript expression patterns in the crayfish Cherax quadricarinatus during the moult cycle

INSECT MOLECULAR BIOLOGY, Issue 6 2007
Y. Yudkovski
Abstract Alterations of hepatopancreatic multi-transcript expression patterns, related to induced moult cycle, were identified in male Cherax quadricarinatus through cDNA microarray hybridizations of hepatopancreatic transcript populations. Moult was induced by X,organ sinus gland extirpation or by repeated injections of 20-hydroxyecdysone. Manipulated males were sacrificed at premoult or early postmoult, and a reference population was sacrificed at intermoult. Differentially expressed genes among the four combinations of two induction methods and two moult stages were identified. Biologically interesting clusters revealing concurrently changing transcript expressions across treatments were selected, characterized by a general shift of expression throughout premoult and early postmoult vs. intermoult, or by different premoult vs. postmoult expressions. A number of genes were differentially expressed in 20-hydroxyecdysone-injected crayfish vs. X,organ sinus gland extirpated males. [source]


Cognitive dysfunction and health-related quality of life after a cardiac arrest and therapeutic hypothermia

ACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 6 2010
J. TORGERSEN
Background: Evidence-based treatment protocols including therapeutic hypothermia have increased hospital survival to over 50% in unconscious out-of-hospital cardiac arrest survivors. In this study we estimated the incidence of cognitive dysfunctions in a group of cardiac arrest survivors with a high functional outcome treated with therapeutic hypothermia. Secondarily, we assessed the cardiac arrest group's level of cognitive performance in each tested cognitive domain and investigated the relationship between cognitive function and age, time since cardiac arrest and health-related quality of life (HRQOL). Methods: We included 26 patients 13,28 months after a cardiac arrest. All patients were scored using the Cerebral Performance Category scale (CPC) and Mini-Mental State Examination (MMSE). Twenty-five of the patients were tested for cognitive function using the Cambridge Neuropsychological Test Automated Battery (CANTAB). These patients were tested using four cognitive tests: Motor Screening Test, Delayed Matching to Sample, Stockings of Cambridge and Paired Associate Learning from CANTAB. All patients filled in the Short Form-36 for the assessment of HRQOL. Results: Thirteen of 25 (52%) patients were classified as having a cognitive dysfunction. Compared with the reference population, there was no difference in the performance in motor function and delayed memory but there were significant differences in executive function and episodic memory. We found no associations between cognitive function and age, time since cardiac arrest or HRQOL. Conclusion: Half of the patients had a cognitive dysfunction with reduced performance on executive function and episodic memory, indicating frontal and temporal lobe affection, respectively. Reduced performance did not affect HRQOL. [source]


Genetic description of a divergent selection experiment in Angora rabbits with overlapping generations

JOURNAL OF ANIMAL BREEDING AND GENETICS, Issue 3 2009
S.A. Rafat
Summary The chief aims of this paper were the following: (i) to describe the demography and genetic structure in two divergent selected lines for total fleece weight (TFW) of French Angora rabbits with overlapping generations; (ii) to describe the effects of inbreeding during an experiment of divergent selection. A study of longevity with the survival kit showed that there was no significant difference in the risk of death or culling between the low line (LL) and high line (HL). A significant effect of inbreeding (p < 0.05) was observed with a 30% higher risk factor in the highest class of inbreeding coefficient compared with the other classes. The means of generation interval were 562 and 601 days in LL and HL, respectively. The numbers of generations for LL and HL were 3.90 and 3.64, respectively. Generation intervals decreased significantly from 1995 to 2000 (p < 0.05). The number of daughters in HL was very variable. The number of animals per generation was higher in HL than in LL. Each buck left nearly three daughters to the next generation (2.52 in LL, 3.24 in HL). In both lines, the effective number of ancestor genomes still present in the genetic pool of the generation was around eight from the reference population of 1995 to that of 2001. Inbreeding in HL was always higher than in LL. The effect of inbreeding was also significant (p < 0.05) on TFW and live weight. The animals with the lowest inbreeding category produced a higher TFW (p < 0.05) than the others. The observed selection differentials were lower than that expected owing to the breeding animal management rules in order to control inbreeding increase. [source]


Reproductive features of the non-native Siganus luridus (Teleostei, Siganidae) during early colonization at Linosa Island (Sicily Strait, Mediterranean Sea)

JOURNAL OF APPLIED ICHTHYOLOGY, Issue 6 2007
E. Azzurro
Summary In July 2003, the finding of a newly settled population of Siganus luridus at Linosa Island (Sicily Strait, Mediterranean Sea) gave us the unusual opportunity to examine the reproductive condition of a Lessepsian migrant during early phases of colonization. Aspects of gonad morphology, fecundity, atresia and oocyte dynamics were investigated by using 43 pioneer specimens collected in concomitance with their first record in the Pelagie Islands. Ovarian development was consistent with the group-synchronous type, and testicular organization was of the unrestricted spermatogonial testis type, with cystic spermatogenesis. Both males and females had reached final stages of gonad maturation. The rates of follicular atresia were moderate: out of 17 adult females, 10 individuals did not present atretic oocytes; six exhibited <15.1% of secondary growth phase (SGP) oocytes in , -atresia, while one female presented 45.7% of SGP in , -atresia. Fecundity estimates did not diverge from what was observed in a reference population along the Lebanese coast. Absolute fecundity ranged from 115 739 to 740 433 oocytes per female (16.5,24.5 cm LT). Relative fecundity ranged from 1239 to 3162 oocytes g,1, with a mean of 1885 ± 868 oocytes g,1. Our observations indicated that these early settled siganids are reproductively active at Linosa and suggested the forthcoming of self-maintaining populations across the central Mediterranean area. [source]


Assessing health-related quality of life in patients with inflammatory bowel disease in Zhejiang, China

JOURNAL OF CLINICAL NURSING, Issue 1-2 2010
Yunxian Zhou
Aims., The aim of this study was to assess health-related quality of life in patients with inflammatory bowel disease in Zhejiang, Mainland China. Background., The incidence of inflammatory bowel disease in China is believed to be low but has been increasing in the past decade. The quality of life of Chinese patients with inflammatory bowel disease is unknown. Design., A cross-sectional study. Methods., The study was conducted in 92 patients with inflammatory bowel disease in Zhejiang, China, 52 with ulcerative colitis and 40 with Crohn's disease. Health-related quality of life was measured by the Chinese version of the Inflammatory Bowel Disease Questionnaire and Short Form-36, respectively. Disease activity was assessed by the Walmsley and Harvey,Bradshaw simple indices for ulcerative colitis and Crohn's disease, respectively. Demographic and clinical variables were also recorded. Short Form-36 data from the study sample were compared with a reference population of 1688 Chinese people residing in Hangzhou, Zhejiang, China. Results., No significant health-related quality of life differences were found between patients with ulcerative colitis and Crohn's disease (p > 0·05). Pooled data showed that inflammatory bowel disease patients with active disease had significantly lower scores for all eight dimensions of Short Form-36 compared to those in remission (p < 0·01); those with active disease scored significantly lower than population norms in all dimensions of Short Form-36 except mental health (p < 0·05); whereas those in remission scored significantly lower than population norms in role physical (p < 0·01) and general health dimensions (p < 0·05). The regression analyses identified only disease activity index and employment status to explain variations in health-related quality of life (p < 0·01). Conclusions., Inflammatory bowel disease similarly impairs health-related quality of life in patients with both ulcerative colitis and Crohn's disease. Relevance to clinical practice., The results suggest that any interventions that produce a stable clinical remission, whether medical or surgical, allowing patients to return to their usual work position can decrease the disease impact on their daily lives. [source]


Consistency of resistance to attack by the green spruce aphid (Elatobium abietinum Walker) in different ontogenetic stages of Sitka spruce

AGRICULTURAL AND FOREST ENTOMOLOGY, Issue 2 2003
S. Harding
Abstract 1,The susceptibility of different genotypes of 29-year-old Sitka spruce to damage by the green spruce aphid, Elatobium abietinum, was investigated in a progeny trial where aphid damage on individual trees had previously been assessed twice in an earlier stage of ontogenetic development. The progeny trial comprised 14 open-pollinated families originating from a clonal seed orchard that had been established using mature spruce trees selected for aphid resistance. 2,Previous investigations had demonstrated that resistance was inherited by the offspring, and that differences in resistance between progenies of the individual orchard clones were highly significant. 3,Susceptibility to aphid attack was recorded as the percentage loss of previous year's needles. Differences in susceptibility recorded between the juvenile trees were found to persist after the trees had developed into the closed-canopy, sexually reproducing stage. Needle loss of the families was significantly less than that of the reference population of Sitka spruce. 4,Hybrids between Sitka spruce and white spruce were defoliated more heavily than pure Sitka spruce, and the difference increased with age. 5,Family heritability of resistance was estimated as 0.60 compared to 0.73 when the trees were assessed in the juvenile stage. The genetic correlation based on family means between damage in the juvenile and sexually reproducing stand was high (0.83), indicating a high consistency of resistance to the aphid over years and ontogenetic stages. 6,A skewed distribution of defoliation indicated that major genes are involved in the expression of resistance, and that the genetics behind resistance has a nonadditive component. [source]


A neuropsychological assessment of frontal cognitive functions in Prader,Willi syndrome

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 5 2007
J. Jauregi
Abstract Background Prader,Willi syndrome (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental rigidity, stereotyped behaviour, impulsiveness, etc. Similar symptoms may also be found in autistic spectrum disorders and lesional pathologies of the frontal lobe. In both cases, such symptoms have been related to dysfunctions in frontal cognitive processes such as attention, working memory and executive functions. This study uses standardized neuropsychological instruments to analyse the degree to which these processes are affected in PWS. Methods The sample comprised 16 individuals with a genetically confirmed PWS diagnosis. Subjects' IQ (Wechsler Adult Intelligence Scale), academic level, laterality and body mass index (BMI) were calculated. Attention, memory and executive functions were analysed using standard, widely employed neuropsychological tests. We compared the results of the sample group with the general population. Correlation analyses were carried out with IQ, academic level and BMI. Results In all the neuropsychological measures focusing on attention, executive functions and visuoperceptual organization, the study sample scored significantly lower than the normative reference population. The scores of the tests used for measuring immediate memory were also significantly lower when trials required sequential processing, although not when they required simultaneous processing. In the memorization of a list of words, subjects showed an initial deficit which disappeared with repetition, enabling them to obtain scores similar to the reference population. No significant correlations were found with BMI, and a higher IQ or academic level did not improve scores in the majority of tests. Conclusions The study shows a deficit in elementary frontal cognitive processes in PWS patients. This deficit may be involved in the social behaviour disorders that characterize such patients, as described in other development or frontal syndrome pathologies. However, we cannot affirm that the deficits found are specific to PWS; they could also occur in other causes of intellectual disability. Although in the study sample IQ did not correlate with frontal deficits, further research is needed to establish whether the neuropsychological alterations described form part of a cognitive phenotype for PWS. We believe that our understanding of the social behaviours typical of PWS may be improved by taking into consideration the cognitive functioning models of the prefrontal lobe, particularly those applied to pervasive developmental disorders. [source]


IgA Immune Responses Against Acetaldehyde Adducts and Biomarkers of Alcohol Consumption in Patients with IgA Glomerulonephritis

ALCOHOLISM, Issue 7 2009
Kati Kaartinen
Background:, The pathogenesis of IgA glomerulonephritis (IgAGN) involves intense deposition of IgAs within the glomerulus. Although previous studies have shown that heavy drinking frequently leads to the generation of IgA antibodies against neo-antigens induced by ethanol metabolites and tissue deposition of IgAs, the associations between alcohol consumption, IgA immune responses, and kidney disease have not been examined. Methods:, A total of 158 IgAGN patients (96 men, 62 women) were classified as abstainers (n = 38), moderate drinkers (n = 114), and heavy drinkers (n = 6) based on self-reported alcohol consumption. The reference population included 143 individuals (99 men, 44 women) who were either apparently healthy abstainers (n = 31), moderate drinkers (n = 43), or heavy drinkers devoid of liver disease (n = 69). The assessments included various biomarkers of alcohol consumption: carbohydrate-deficient transferrin (CDT), glutamyl transferase, ,-CDT (combination of GGR and CDT), mean corpuscular volume (MCV), tests for liver and kidney function, serum immunoglobulin A (IgA), and specific IgA antibodies against acetaldehyde,protein adducts. Results:, In male IgAGN patients, drinking status was significantly associated with MCV, p < 0.001; CDT, p < 0.01; and , -CDT, p < 0.05. In the reference population, all biomarkers and anti-adduct IgA levels were found to vary according to drinking status. In IgAGN patients, anti-adduct IgA levels were elevated in 63% of the cases but the titers did not associate with self-reported ethanol intake. Conclusions:, These data indicate high levels of IgA antibodies against acetaldehyde-derived antigens in IgAGN patients, which may hamper the use of the immune responses as markers of alcohol consumption among such patients. Future studies on the pathogenic and prognostic significance of anti-adduct immune responses in IgAGN patients are warranted. [source]


Improvement in Quality of Life After Treatment for Alcohol Dependence With Acamprosate and Psychosocial Support

ALCOHOLISM, Issue 1 2004
Marsha Y. Morgan
Abstract: Background: The impact of disease on health-related quality of life is now well recognized, as is the importance of this variable as a measure of treatment efficacy. Methods: Patients from five European countries were enrolled in an open, multicenter, prospective study designed to observe outcome in dependent drinkers treated for 6 months with acamprosate and psychosocial support. Version 1 of the 36-item Short Form Health Profile (SF-36v1) questionnaire was administered at inclusion and at 3 and 6 months. Responses were described as handicaps compared with an appropriately matched, healthy reference population. One-way fixed ANOVA and simultaneous stepwise linear regression analysis were used to identify potential predictors of quality of life at baseline and after treatment. Results: Baseline SF-36v1 data were obtained from 1216 patients (mean age, 43 ± 9 years; 77% male). Mean values for all SF-36v1 dimensions were significantly lower in the patient population than in the normative reference population; the most important deficits were observed in physical and emotional role limitations and in social functioning. The most important predictors of baseline quality of life were severity of alcohol dependence, employment status, psychiatric history, quantity and frequency of alcohol consumption, attendance at Alcoholics Anonymous, global alcohol health status, age, gender, and education. SF-36v1 data were obtained from 686 patients at 3 months and from 497 at 6 months. Significant improvements were observed in all SF-36v1 dimensional and summary scores after 3 months of treatment (p < 0.001); further marginal improvements were observed between 3 and 6 months. The most important predictors of quality of life following treatment were the SF-36v1 profile at baseline, followed by abstinence duration; patients who completed the trial and remained abstinent throughout showed the greatest improvement. Conclusions: Health-related quality of life is severly impaired in dependent drinkers. Treatment with acamprosate and psychosocial support, by promoting abstinence, improves the quality of life profile to levels comparable to those observed in healthy individuals. [source]


Developing Nutrient Criteria for Streams: An Evaluation of the Frequency Distribution Method,

JOURNAL OF THE AMERICAN WATER RESOURCES ASSOCIATION, Issue 2 2007
Michael W. Suplee
Abstract:, The U.S. Environmental Protection Agency recommends two statistical methods to States and Tribes for developing nutrient criteria. One establishes a criterion as the 75th percentile of a reference-population frequency distribution, the other uses the 25th percentile of a general-population distribution; the U.S. Environmental Protection Agency suggests either method results in similar criteria. To evaluate each method, the Montana Department of Environmental Quality (MT DEQ) assembled data from STORET and other sources to create a nutrient general population. MT DEQ's reference-stream project provided reference population data. Data were partitioned by ecoregions, and by seasons (winter, runoff, and growing) defined for the project. For each ecoregion and season, nutrient concentrations at the 75th percentile of the reference population were matched to their corresponding concentrations in the general population. Additionally, nutrient concentrations from five regional scientific studies were matched to their corresponding reference population concentrations; each study linked nutrients to impacts on water uses. Reference-to-general population matches were highly variable between ecoregions, as nutrients at the 75th percentile of reference corresponded to percentiles ranging from the 4th to the 97th of the general population. In contrast, case studies-to-reference matches were more consistent, matching on average to the 86th percentile of reference, with a coefficient of variation of 13%. [source]


Lutein in patients with cataracts and age-related macular degeneration: a long-term supplementation study

JOURNAL OF THE SCIENCE OF FOOD AND AGRICULTURE, Issue 9 2001
B Olmedilla
Abstract Lutein, a non-provitamin A xanthophyll, is widely distributed in fruits and vegetables frequently consumed. In human serum, lutein is transported by lipoproteins and selectively accumulated in certain tissues (eg the retina). Epidemiological studies suggest that high intake and serum levels of lutein are associated with a lower risk of cataracts and age-related maculopathy. Subjects diagnosed with cataracts (CA; n,,=,5) or age-related macular degeneration (ARMD; n,,=,5) agreed to take three lutein capsules per week. Each capsule potentially provided about 12,mg of all- trans -lutein, 3,mg of 13/15- cis -lutein and 3.3,mg of ,-tocopherol, as revealed by HPLC. Zeaxanthin was not detected. Average supplementation time was 13 months (range 4,20 months) for ARMD subjects and 26 months (range 16,36 months) for CA subjects. Blood samples for carotenoid analysis were collected every 3 months, coinciding with ophthalmological revision. In serum, concentrations of lutein, 13- cis -lutein and two ketocarotenoids increased significantly. Maximum increments were observed at 3,6 months, reaching levels above the 95th percentile of the reference population (>0.44,µmol,l,1). Ophthalmological evaluation showed an average increment in visual acuity of 0.4, and glare sensitivity also improved. No significant side effects such as hypercarotenemia, carotenodermia or changes in biochemical or haematological profile were observed. Thus, lutein supplementation at achievable dietary levels increased and maintained serum lutein levels, which were associated with an improvement in the visual function of the patients. © 2001 Society of Chemical Industry [source]


Assessing the taxonomic status of dingoes Canis familiaris dingo for conservation

MAMMAL REVIEW, Issue 2 2006
AMANDA E. ELLEDGE
ABSTRACT 1The conservation status of the dingo Canis familiaris dingo is threatened by hybridization with the domestic dog C. familiaris familiaris. A practical method that can estimate the different levels of hybridization in the field is urgently required so that animals below a specific threshold of dingo ancestry (e.g. 1/4 or 1/2 dingoes) can reliably be identified and removed from dingo populations. 2Skull morphology has been traditionally used to assess dingo purity, but this method does not discriminate between the different levels of dingo ancestry in hybrids. Furthermore, measurements can only be reliably taken from the skulls of dead animals. 3Methods based on the analysis of variation in DNA are able to discriminate between the different levels of hybridization, but the validity of this method has been questioned because the materials currently used as a reference for dingoes are from captive animals of unproven genetic purity. The use of pre-European materials would improve the accuracy of this method, but suitable material has not been found in sufficient quantity to develop a reliable reference population. Furthermore, current methods based on DNA are impractical for the field-based discrimination of hybrids because samples require laboratory analysis. 4Coat colour has also been used to estimate the extent of hybridization and is possibly the most practical method to apply in the field. However, this method may not be as powerful as genetic or morphological analyses because some hybrids (e.g. Australian cattle dog × dingo) are similar to dingoes in coat colour and body form. This problem may be alleviated by using additional visual characteristics such as the presence/absence of ticking and white markings. [source]


Adaptive differences in gene expression associated with heavy metal tolerance in the soil arthropod Orchesella cincta

MOLECULAR ECOLOGY, Issue 15 2009
DICK ROELOFS
Abstract Field-selected tolerance to heavy metals has been reported for Orchesella cincta (Arthropoda: Collembola) populations occurring at metal-contaminated mining sites. This tolerance correlated with heritable increase in metal excretion efficiency, less pronounced cadmium (Cd)-induced growth reduction and overexpression of the metallothionein gene. We applied transcriptomics to determine differential gene expression caused by this abiotic stress in reference and Cd-tolerant populations. Many cDNAs responded to Cd exposure in the reference population. Significantly fewer clones were Cd responsive in tolerant animals. Analysis of variance revealed transcripts that interact between Cd exposure and population. Hierarchical cluster analysis of these clones identified two major groups. The first one contained cDNAs that were up-regulated by Cd in the reference culture but non-responsive or down-regulated in tolerant animals. This cluster was also characterized by elevated constitutive expression in the tolerant population. Gene ontology analysis revealed that these cDNAs were involved in structural integrity of the cuticle, anti-microbial defence, calcium channel-blocking, sulphur assimilation and chromatin remodelling. The second group consisted of cDNAs down-regulated in reference animals but not responding or slightly up-regulated in tolerant animals. Their functions involved carbohydrate metabolic processes, Ca2+ -dependent stress signalling, redox state, proteolysis and digestion. The reference population showed a strong signature of stress-induced genome-wide perturbation of gene expression, whereas the tolerant animals maintained normal gene expression upon Cd exposure. We confirmed the micro-evolutionary processes occurring in soil arthropod populations and suggest a major contribution of gene regulation to the evolution of a stress-adapted phenotype. [source]


Estimation of pairwise relatedness between individuals and characterization of isolation-by-distance processes using dominant genetic markers

MOLECULAR ECOLOGY, Issue 6 2003
Olivier J. Hardy
Abstract A new estimator of the pairwise relatedness coefficient between individuals adapted to dominant genetic markers is developed. This estimator does not assume genotypes to be in Hardy,Weinberg proportions but requires a knowledge of the departure from these proportions (i.e. the inbreeding coefficient). Simulations show that the estimator provides accurate estimates, except for some particular types of individual pairs such as full-sibs, and performs better than a previously developed estimator. When comparing marker-based relatedness estimates with pedigree expectations, a new approach to account for the change of the reference population is developed and shown to perform satisfactorily. Simulations also illustrate that this new relatedness estimator can be used to characterize isolation by distance within populations, leading to essentially unbiased estimates of the neighbourhood size. In this context, the estimator appears fairly robust to moderate errors made on the assumed inbreeding coefficient. The analysis of real data sets suggests that dominant markers (random amplified polymorphic DNA, amplified fragment length polymorphism) may be as valuable as co-dominant markers (microsatellites) in studying microgeographic isolation-by-distance processes. It is argued that the estimators developed should find major applications, notably for conservation biology. [source]


Bone mineral density and urinary N -acetyl-,- d -glucosaminidase activity in paediatric patients with idiopathic hypercalciuria

NEPHROLOGY, Issue 2 2005
SYLVA SKALOVA
SUMMARY: Background: Idiopathic hypercalciuria (IH) is defined as hypercalciuria that persists after correction of dietary inbalances and has no detectable causes. Patients with IH have a higher prevalence of osteoporosis. Defective reabsorption of calcium by the renal tubule is considered a likely mechanism of IH. N -acetyl-beta- d -glucosaminidase (NAG) is a lysosomal enzyme that is a very sensitive marker of renal tubular impairment. Methods: Fifteen patients (nine boys and six girls, mean age 12.4 ± 4.0 years) with IH (urinary calcium excretion >0.1 mmol/kg per 24 h) had their bodyweight, height, body mass index (BMI), urinary NAG/creatinine ratio (U-NAG/Cr) and 24-h urinary calcium excretion (U-Ca/24 h) assessed. L1,L4 bone mineral density (BMD) was measured by dual energy X-ray absorptiometry and volumetric BMD (BMDvol) was calculated. The obtained results were expressed as Z-scores. Results: The values of basic anthropometric parameters did not differ significantly from the values of the reference population and there was a tendency to short stature, which did not reach statistical significance (P = 0.08). The values of calciuria and U-NAG/Cr were significantly higher while BMD was significantly lower when compared to the reference values (P < 0.0006, P < 0.006 and P < 0.001, respectively). Inverse and significant correlations were found between U-Ca/24 h and ,BMD, U-Ca/24 h and body height, and U-Ca/24 h and BMDvol (r = ,0.64 and ,0.70, respectively, P < 0.01; r = ,0.55, P < 0.05), while there was no correlation between U-NAG/Cr and U-Ca/24 h, nor between BMD and weight or BMD and BMI. Conclusion: Tubular impairment is highly probable in children with IH, but there is a poor relationship with the degree of calcium leakage. Idiopathic hypercalciuria should be considered as a risk factor for stunted growth and low bone mass. [source]


Bladder diary patterns in detrusor overactivity and urodynamic stress incontinence,

NEUROUROLOGY AND URODYNAMICS, Issue 6 2007
Matthew Parsons
Abstract Aims Our aims were: (1) to describe and compare frequency-volume and incontinence episode patterns in patients with urodynamic stress incontinence (USI) and detrusor overactivity (DO) as measured by a hand-written and computer-analyzed bladder diary and (2) to compare degree of separation between these clinical groups produced by raw diary measurements and after age- and total-volume-adjustment against a reference population. Materials and Methods We studied 58 patients with USI, 29 with DO, and 22 with both USI and DO. From 3-day hand-written and computer-analyzed bladder diaries, we calculated average and maximum volume voided (Vol/Void), voiding frequency and volume voided over 24 hr, and number, size and type (whether accompanied by activity or urge) of incontinence episodes. Results Compared to the USI patients, the DO patients tended to have (1) higher voiding frequency, (2) lower Vol/Void, (3) more urge-related, than activity-related leaks, (4) smaller volume, and equally frequent leaks and (5) more severe incontinence symptoms. The age- and volume-adjusted percentiles better separated the USI and DO groups' frequency and volume measurements than did the raw measurements. Unexpectedly high percentages of our USI patients had low Vol/Void measurements, high voiding frequency, and predominantly urge-related leaks. A subgroup of 29 USI patients with "low" (average volume <30th reference population percentile) Vol/Void measurements had high incidences of urgency and urge-related leaks. Conclusions Reference population percentiles better separate the frequency/volume patterns of USI and DO than do the raw measurements. We found a subgroup of USI patients that had an OAB-like clinical picture. Neurourol. Urodynam. 26:800,806, 2007. © 2007 Wiley-Liss, Inc. [source]


Quality of life of children and adolescents after kidney or liver transplantation: Child, parents and caregiver's point of view

PEDIATRIC TRANSPLANTATION, Issue 3 2003
S. Manificat
Abstract: A cross-sectional study was performed to assess quality of life (QoL) after kidney or liver transplantation during childhood. Self-questionnaires explored children, adolescent and parent QoL. Seventy-five transplant children, 36 transplant adolescents, 67 mothers, 34 fathers and 67 caregivers filled out the questionnaires; they were compared with a reference population. Children reported a rather good QoL, but their extra-family involvement appeared not as satisfactory as that of the reference population children. Adolescents reported a very high QoL when completing the structured format scale; however, their responses to open-ended questions showed qualitative differences compared with those of a reference population: they expressed concern about their body or health, less pleasure than ordinary adolescents to manage by themselves, and a poor relationship with peers. Mothers indicated a deep impact of the child's illness on their own QoL, and the need for psychological support. In conclusion, a rather good QoL is a long-lasting feature of kidney and liver transplantation in children. Such an assessment is mandatory to identify remaining impairments in some selected areas, either in the recipient or family. [source]


Lung function decrease in relation to pneumoconiosis and exposure to quartz-containing dust in construction workers

AMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 6 2003
Evelyn Tjoe-Nij MSc
Abstract Background Prevalence of exposure related respiratory symptoms and decreases in lung function are unknown among quartz dust exposed construction workers. Methods In a cross-sectional study (n,=,1,335), the occurrence of respiratory symptoms, was recorded and spirometric lung function was measured. Results were associated with exposure data and presence of radiographic abnormalities and compared with a reference population. Results Pneumoconiosis (profusion category 1/1 or greater) was associated with increased risks of FEV1 and FVC values in the lowest 5% group, and with group-based decreases of 270 ml/s and 180 ml, respectively. Average lung function of construction workers was somewhat lower compared to a Dutch reference population. Lung function was not associated with exposure, except for a reduction in FVC of 5 ml per year for those with higher exposure. Conclusions In quartz dust exposed construction workers obstructive and restrictive lung function loss was detected. Am. J. Ind. Med. 43:574,583, 2003. © 2003 Wiley-Liss, Inc. [source]


Respiratory effects of exposure to low levels of concrete dust containing crystalline silica

AMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 2 2001
E. Meijer MD
Abstract Background Dusts containing crystalline silica are generated in mining, construction, glass, granite and concrete production industries. The association between exposure to low levels of concrete dust containing crystalline silica and reduction in lung function, was evaluated in a cross-sectional study. Methods The study was carried out among 144 concrete workers, from two factories, with exposure assessment of respirable dust and silica by personal samplers. Results of respiratory questionnaires and standardized measurements of lung function were compared with the results in a control population. Multiple linear regression analysis was used in selecting factors that predict (age and standing height standardized residual) lung function. Results The average concentration of respirable dust in both factories was 0.8 mg/m3 and 0.06 mg/m3 for respirable silica. The average silica content of the dust was 9%. The average cumulative dust exposure was 7.0 mg/m3 year and cumulative silica exposure was 0.6 mg/m3 year. Significant associations between exposure to concrete dust and a small lung function (FEV1/FVC ratio, MMEF) loss were found, independent of smoking habits and of a history of allergy. Conclusions Our results indicate that, concrete workers with chronic obstructive pulmonary symptoms and/or work-related lower respiratory symptoms are at risk of having a reduction in lung function (FEV&1/FVC ratio) outside the 5th percentile of the external reference population, and therefore, of mild chronic obstructive pulmonary disease, at respirable concrete dust levels below 1 mg/m3 with a respirable crystalline silica content of 10% (TWA, 8 hr). Am. J. Ind. Med. 40:133,140, 2001. © 2001 Wiley-Liss, Inc. [source]


Down syndrome in births near landfill sites

PRENATAL DIAGNOSIS, Issue 13 2007
Lars Jarup
Abstract Objectives The aim of the study was to examine the risk of giving birth to a child with Down syndrome associated with residence near landfill sites in England and Wales. Methods A 2-km zone around 6289 landfill sites processing special (hazardous), non-special and unknown waste type was used to indicate exposure. Postcodes within the 2-km zone were classified as ,exposed' and people living beyond 2 km comprised the reference population. Health outcome data were Down syndrome registrations from a national registry including 21 cytogenetic laboratories in England and Wales, for the years 1989 to 1998. With a Bayesian regression model, we calculated relative risks for the population living within 2 km of landfill sites relative to the reference population, assuming a common relative risk for all landfill sites. Adjustments were made for major confounders. Results There were 4640 cases of Down syndrome within 2 km of a landfill site. We found no excess risks of Down syndrome related to landfill sites. Adjustment for socio-economic status (SES) did not influence our estimates. There were no differences in risk between hazardous waste sites and other landfill sites. Conclusion We found no excess risk of Down syndrome in populations living near landfill sites. Copyright © 2007 John Wiley & Sons, Ltd. [source]


Age-standardisation when target setting and auditing performance of Down syndrome screening programmes

PRENATAL DIAGNOSIS, Issue 11 2004
Howard Cuckle
Abstract Objective To describe and illustrate a method of setting Down syndrome screening targets and auditing performance that allows for differences in the maternal age distribution. Methods A reference population was determined from a Gaussian model of maternal age. Target detection and false-positive rates were determined by standard statistical modelling techniques, except that the reference population rather than an observed population was used. Second-trimester marker parameters were obtained for Down syndrome from a large meta-analysis, and for unaffected pregnancies from the combined results of more than 600 000 screens in five centres. Audited detection and false-positive rates were the weighted average of the rates in five broad age groups corrected for viability bias. Weights were based on the age distributions in the reference population. Results Maternal age was found to approximate reasonably well to a Gaussian distribution with mean 27 years and standard deviation 5.5 years. Depending on marker combination, the target detection rates were 59 to 64% and false-positive rate 4.2 to 5.4% for a 1 in 250 term cut-off; 65 to 68% and 6.1 to 7.3% for 1 in 270 at mid-trimester. Among the five centres, the audited detection rate ranged from 7% below target to 10% above target, with audited false-positive rates better than the target by 0.3 to 1.5%. Conclusion Age-standardisation should help to improve screening quality by allowing for intrinsic differences between programmes, so that valid comparisons can be made. Copyright © 2004 John Wiley & Sons, Ltd. [source]


Obesity in schizophrenic outpatients receiving antipsychotics in Taiwan

PSYCHIATRY AND CLINICAL NEUROSCIENCES, Issue 4 2004
CHENG-CHENG HSIAO md
Abstract This investigation estimates and compares, for the first time, the distribution of body mass index (BMI: kg/m2) and the prevalence of obesity among Chinese outpatients with schizophrenia treated with antipsychotics. The BMI of 201 outpatients with schizophrenia-spectrum disorders was studied via a cross-sectional naturalistic study. This investigation also compared the BMI of the subjects with a Taiwanese reference population. This investigation found no significant difference in the prevalence of obesity between male and female subjects. The prevalence of obesity among male and female patients in this investigation was, respectively, 2.74- and 2.51-fold greater than the Taiwanese reference population, and the prevalence of severe obesity among male and female patients was 4.66- and 3.53-fold greater than that in the Taiwanese reference population, respectively. The rate of severe obesity was especially high in patients treated with olanzapine. Atypical antipsychotics other than olanzapine did not seem to be more closely associated with obesity or severe obesity compared to typical antipsychotics. [source]


Determination of 13C/12C ratios of endogenous urinary steroids: method validation, reference population and application to doping control purposes

RAPID COMMUNICATIONS IN MASS SPECTROMETRY, Issue 14 2008
Thomas Piper
The application of a comprehensive gas chromatography/combustion/isotope ratio mass spectrometry (GC/C/IRMS)-based method for stable carbon isotopes of endogenous urinary steroids is presented. The key element in sample preparation is the consecutive cleanup with high-performance liquid chromatography (HPLC) of underivatized and acetylated steroids, which allows the isolation of ten analytes (11, -hydroxyandrosterone, 5, -androst-16-en-3, -ol, pregnanediol, androsterone, etiocholanolone, testosterone, epitestosterone, 5, -androstane-3,,17, -diol, 5, -androstane-3,,17, -diol and dehydroepiandrosterone) from a single urine specimen. These steroids are of particular importance to doping controls as they enable the sensitive and retrospective detection of steroid abuse by athletes. Depending on the biological background, the determination limit for all steroids ranges from 5 to 10,ng/mL for a 10,mL specimen. The method is validated by means of linear mixing models for each steroid, which covers repeatability and reproducibility. Specificity was further demonstrated by gas chromatography/mass spectrometry (GC/MS) for each analyte, and no influence of the sample preparation or the quantity of analyte on carbon isotope ratios was observed. In order to determine naturally occurring 13C/12C ratios of all implemented steroids, a reference population of n,=,61 subjects was measured to enable the calculation of reference limits for all relevant steroidal , values. Copyright © 2008 John Wiley & Sons, Ltd. [source]


Current Lifestyle of Young Adults After Liver Transplantation During Childhood

AMERICAN JOURNAL OF TRANSPLANTATION, Issue 7 2010
J. P. Dommergues
The authors studied the psychosocial adjustment of pediatric liver transplant (LT) recipients reaching adulthood. The study comprised phone interviews of 116 volunteers aged 17,33 years. Results were compared to those for healthy peers and 65 patients who were eligible for inclusion but did not participate. Participants' median age at LT was 6 years and the median period since LT was 15 years. Of the 116 participants, 76% considered their quality of life as good or very good. Seventy-five patients (65%) were attending schools, 27 of whom were 2 years or more below the age-appropriate level. Of the remaining 41 patients, 26 had a job and 15 were unemployed. Poor compliance with medications was reported by 52 patients (45%). Alcohol consumption was lower than in the reference population (p < 0.001). Anxiety, loneliness and negative thoughts were expressed by 53, 84 and 47% of the participants, respectively. Thirteen patients (11%) were being cared for by psychologists or psychiatrists. The 65 nonparticipants had greater psychological problems than the participants, and a lower educational level. In conclusion, after LT in early life, most patients displayed psychological vulnerability during early adulthood. The educational level of patients was lower than that of theirs peers. [source]


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

ANIMAL GENETICS, Issue 4 2006
J. J. Michal
Summary 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 × 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. [source]