bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between individual quality of life and family quality of life for people with intellectual disability living in Italy
Authors: Bertelli M. , Bianco A. , Rossi M. , Scuticchio D. , Brown I. 
Published: September 2011

AbstractBackground  There is substantial literature investigating quality of life (QoL) of individuals with intellectual disability (ID). QoL of families of people with ID is emerging as an important field of research. Despite this, there is a lack of studies regarding their relationship.Aim  The present paper aimed to study the relationship between QoL scores of individuals with ID and members of their families.Methods  Twenty‐seven parents or relatives of 27 adults with ID were recruited by four different research centres across Tuscany (Italy) to be interviewed through the Italian adaptation of the Family Quality of Life Survey – 2006 (FQoLS‐2006), a tool developed for use in a multiple‐country study on family QoL. The FQoLS‐2006 was translated and adapted to Italian through three revisions. The last was submitted to the authors of the original version, who also maintain an electronic data file and data archive for statistical evaluations in various countries. QoL of persons with ID was assessed through the administration of the Quality of Life – Instrument Package. QoL scores were analysed to describe population characteristics and to examine the relationships among measures of individual and family QoL using correlations (Pearson and Spearman).Results  Findings showed that family ratings of QoL were generally low. Families interviewed reported a low level of QoL in ‘Support from Others’ and ‘Community Interaction’, while ‘Family Relationships’ and ‘Health of the Family’ rated higher. For individual QoL, individuals had the lowest scores in the area of ‘Spiritual being’ and higher scores in the area of ‘Physical being’. Correlations examining possible relationships among Importance, Satisfaction and Opportunities found some statistically significant correlation coefficients between some aspects of the three main areas of individual QoL (Being, Belonging and Becoming) and the nine family domains. Most of these correlations regarded family ‘Financial Well‐Being’, ‘Family Relationships, ‘Support from Service’ and ‘Support from Others’ areas.Conclusions  The results of this study suggest that QoL is perceived somewhat differently by individuals with ID and by members of their families. This difference could negatively impact QoL of people with ID, if their views are not taken into account when planning for family support. The relationships between individual and family QoL appear to be quite complex, and such complexity needs to be clarified in future research.
Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions
Authors: Shashi V. , Veerapandiyan A. , Schoch K. , Kwapil T. , Keshavan M. , Ip E. , Hooper S. 
Published: September 2011

AbstractBackground  Although distinctive neuropsychological impairments have been delineated in children with chromosome 22q11 deletion syndrome (22q11DS), social skills and social cognition remain less well‐characterised.Objective  To examine social skills and social cognition and their relationship with neuropsychological function/behaviour and psychiatric diagnoses in children with 22q11DS.Methods  Sixty‐six children with 22q11DS and 54 control participants underwent neuropsychological testing and were administered the Diagnostic Analysis of Non‐Verbal Accuracy (DANVA) for face and auditory emotion recognition, a measure of social cognition: their parents/guardians were administered the Social Skills Rating System (SSRS) – parent version, Child Behavior Checklist (CBCL) – parent version and the Computerised Diagnostic Interview Schedule for Children (C‐DISC).Results  The 22q11DS group exhibited significantly lower social skills total score and more problem social behaviours, lower neurocognitive functioning, higher rates of anxiety disorders and more internalising symptoms than the control group. Participants with 22q11DS also exhibited significant deficits in their ability to read facial expressions compared with the control group, but performed no differently than the control participants in the processing of emotions by tone of voice. Within the 22q11DS group, higher social competency was correlated with higher global assessment of functioning and parental socio‐economic status. Social competency was worse in those with anxiety disorders, attention deficit hyperactivity disorder, more than two psychiatric diagnoses on the C‐DISC and higher internalising symptoms. No significant correlations of SSRS scores were seen with IQ, executive functions, attention, or verbal learning and memory. No correlations were found between social cognition and social skill scores.Conclusion  Our results indicate that social skills in children with 22q11DS are associated with behaviour/emotional functioning and not with neurocognition. Thus, treating the behaviour or emotional problems such as attention deficit hyperactivity disorder and anxiety disorders may provide a pathway for improving social skills in these children.
β2‐adrenergic receptor Thr164IIe polymorphism, blood pressure and ischaemic heart disease in 66 750 individuals
Authors: Thomsen M. , Dahl M. , Tybjærg‐Hansen A. , Nordestgaard B. G. 
Published: September 2011

Abstract.  Thomsen M, Dahl M, Tybjærg‐Hansen A, Nordestgaard BG (Copenhagen University Hospital, Copenhagen; University of Copenhagen, Copenhagen, Denmark). β2‐adrenergic receptor Thr164IIe polymorphism, blood pressure and ischaemic heart disease in 66 750 individuals. J Intern Med 2012; 271: 305–314.Objectives.  The β2‐adrenergic receptor (ADRB2) is located on smooth muscle cells and is an important regulator of smooth muscle tone. The Thr164Ile polymorphism (rs1800888) in the ADRB2 gene is rare but has profound functional consequences on receptor function and could cause lifelong elevated smooth muscle tone. We tested the hypothesis that Thr164Ile is associated with increased blood pressure, increased frequency of hypertension and increased risk of cardiovascular disease (CVD).Subjects.  A total of 66 750 individuals from two large Danish general population studies were genotyped, and 1943 Thr164Ile heterozygotes and 16 homozygotes were identified.Results.  Thr164Ile genotype was associated with increased systolic and diastolic blood pressure in women (trend: P = 0.04 and 0.02): systolic and diastolic blood pressure increased by 5% and 2%, respectively, in female homozygotes compared with female noncarriers. All female Thr164Ile homozygotes had hypertension compared with 58% of female heterozygotes and 54% of female noncarriers (chi‐square: P = 0.001). Female Thr164Ile homozygotes and heterozygotes had odds ratios for ischaemic heart disease (IHD) of 2.93 (0.56–15.5) and 1.28 (1.03–1.61), respectively, compared with female noncarriers (trend: P = 0.007). These differences were not observed in men. Furthermore, Gly16Arg (rs1042713) and Gln27Glu (rs1042714) in the ADRB2 gene were not associated with blood pressure, hypertension or CVD either in the population overall or in women and men separately.Conclusions.  ADRB2 Thr164Ile is associated with increased blood pressure, increased frequency of hypertension and increased risk of IHD amongst women in the general population. These findings, particularly for homozygotes, are novel.
The status of tuberculosis in European wild mammals
Authors: GORTÁZAR Christian , DELAHAY Richard J. , MCDONALD Robbie A. , BOADELLA Mariana , WILSON Gavin J. , GAVIER‐WIDEN Dolores , ACEVEDO Pelayo 
Published: September 2011

ABSTRACT
Tuberculosis (TB) is a chronic disease caused by Mycobacterium bovis and related members of the Mycobacterium tuberculosis complex. Infection affects not only cattle but also other livestock species, companion animals and wild mammals. Humans are also susceptible; hence, zoonotic infection is a driver for disease control in animal hosts. As bovine TB prevalence has been reduced in livestock, the relative epidemiological and socio‐economic importance of wildlife reservoirs has increased, and there is a need for disease management strategies.
We review the current status of TB in European wild mammals, identifying epidemiological trends and areas for future research and management. TB has a complex epidemiology, which may involve multiple hosts, and is influenced by climate and habitat.
Consequently, the role of wild and domestic hosts in the epidemiology of TB varies among regions. In Europe, there are three regional examples of M. bovis maintenance hosts: the Eurasian badger Meles meles in Great Britain and Ireland, the Eurasian wild boar Sus scrofa in the Iberian Peninsula and deer belonging to the subfamily Cervinae in several European regions. In other parts of Europe, these species are currently regarded as spillover hosts, although in time their status may change depending on local or regional risk factors. Nevertheless, in most situations, the relative contribution of wild mammals to M. bovis infection in cattle is still a matter of debate. Also, the outcome of management interventions to control disease in wildlife populations may be complex and counter‐intuitive.
As our knowledge of disease dynamics in wild mammals improves, options for disease control in wildlife reservoirs, such as vaccination, improved biosecurity and population management, are likely to broaden. In order to evaluate our existing control options, we must monitor the effects of interventions on TB occurrence in the affected regions of Europe and share our collective experiences.
Back from the brink: potential for genetic rescue in a critically endangered tree
Authors: FINGER A. , KETTLE C. J. , KAISER‐BUNBURY C. N. , VALENTIN T. , DOUDEE D. , MATATIKEN D. , GHAZOUL J. 
Published: September 2011

AbstractRare plant species are vulnerable to genetic erosion and inbreeding associated with small population size and isolation due to increasing habitat fragmentation. The degree to which these problems undermine population viability remains debated. We explore genetic and reproductive processes in the critically endangered long‐lived tropical tree Medusagyne oppositifolia, an endemic to the Seychelles with a naturally patchy distribution. This species is failing to recruit in three of its four populations. We evaluate whether recruitment failure is linked to genetic problems associated with fragmentation, and if genetic rescue can mitigate such problems. Medusagyne oppositifolia comprises 90 extant trees in four populations, with only the largest (78 trees) having successful recruitment. Using 10 microsatellite loci, we demonstrated that genetic diversity is high (HE: 0.48–0.63; HO: 0.56–0.78) in three populations, with only the smallest population having relatively low diversity (HE: 0.26 and HO: 0.30). All populations have unique alleles, high genetic differentiation, and significant within population structure. Pollen and seed dispersal distances were mostly less than 100 m. Individuals in small populations were more related than individuals in the large population, thus inbreeding might explain recruitment failure in small populations. Indeed, inter‐population pollination crosses from the large donor population to a small recipient population resulted in higher reproductive success relative to within‐population crosses. Our study highlights the importance of maintaining gene flow between populations even in species that have naturally patchy distributions. We demonstrate the potential for genetic and ecological rescue to support conservation of plant species with limited gene flow.
Female reproductive competition in Eulemur rufifrons: eviction and reproductive restraint in a plurally breeding Malagasy primate
Authors: KAPPELER PETER M. , FICHTEL CLAUDIA 
Published: September 2011

AbstractIn mammals with female philopatry, co‐resident females inevitably compete with each other for resources or reproductive opportunities, thereby reducing the kin‐selected benefits of altruism towards relatives. These counteracting forces of cooperation and competition among kin should be particularly pronounced in plurally breeding species with limited alternative breeding opportunities outside the natal group. However, little is still known about the costs of reproductive competition on females’ fitness and the victims’ potential counter‐strategies. Here we summarize long‐term behavioural, demographic and genetic data collected on a plurally breeding primate from Madagascar to illuminate mechanisms and effects of female reproductive competition, focusing on forcible eviction and potential reproductive restraint. The main results of our study indicate that females in groups of redfronted lemurs (Eulemur rufifrons) above a critical size suffer from competition from their close relatives: females in larger groups face an increased probability of not giving birth as well as a higher probability of being evicted, especially during the annual mating and birth seasons. Eviction is not predicted by the number of adult females, the number of close female relatives, female age or inter‐annual variation in rainfall but only by total group size. Thus, eviction in this species is clearly linked with reproductive competition, it cannot be forestalled by reproductive restraint or having many relatives in the group, and it occurs in the absence of a clear dominance hierarchy. Our study therefore also underscores the notion that potential inclusive fitness benefits from living with relatives may have been generally over‐rated and should not be taken for granted.
A novel role of ‘pseudo’γ‐butyrolactone receptors in controlling γ‐butyrolactone biosynthesis in Streptomyces
Authors: Wang Juan , Wang Weishan , Wang Linqi , Zhang Guifeng , Fan Keqiang , Tan Huarong , Yang Keqian 
Published: September 2011

SummaryIn streptomycetes, a quorum‐sensing mechanism mediated by γ‐butyrolactones (GBLs) and their cognate receptors was known to trigger secondary metabolism and morphological differentiation. However, many aspects on the control of GBL signal production are not understood. In this work, we report that ScbR2, the pseudo GBL receptor in Streptomyces coelicolor, negatively controls the biosynthesis of γ‐butyrolactone (SCB1) by directly repressing the transcription of scbA, which encodes the key enzyme for SCB1 biosynthesis. Similarly, the pseudo GBL receptor JadR2 in Streptomyces venezuelae was shown to repress the expression of jadW1, which also encodes the putative GBL synthase. These regulatory relationships were verified in Escherichia coli using lux‐based reporter constructs. Additionally, the temporal expression profiles of scbA, scbR2 and scbR (receptor gene for SCB1) were examined in Streptomyces coelicolor, which showed the sequential expression of ScbR/R2 regulators in the control of SCB1 production. Overall, our results clearly demonstrated that pseudo GBL receptors play a novel role in controlling GBL biosynthesis in streptomycetes. As ScbR/R2 homologues and their binding sites upstream of GBL synthase genes are commonly found in Streptomyces species, and ScbR2 homologues cross‐recognize each other's target promoters, the ScbA/R/R2 quorum‐sensing regulatory system appears to represent an evolutionarily conserved signal control mechanism.
Husband's preference for a son and women's nutrition: examining the role of actual and desired family composition on women's anaemia and body mass index in India
Authors: Sabarwal Shagun , Subramanian S. V. , McCormick Marie C. , Silverman Jay G. 
Published: September 2011

SummarySabarwal S, Subramanian SV, McCormick MC, Silverman JG. Husband's preference for a son and women's nutrition: examining the role of actual and desired family composition on women's anaemia and body mass index in India. Paediatric and Perinatal Epidemiology 2012; 26: 77–88.This study examines the relationship between the husband's preference for a son, sex composition of children and risk of anaemia and underweight among married Indian women. Information was collected regarding 29 517 couples having at least one child in the nationally representative 2005–06 National Family Health Survey of India. The exposures were husband's preference for a son and sex composition of children: sons only, daughters only and mixed. Outcome included maternal underweight and moderate/severe anaemia. Husband's preference for a son was not found to be associated with his wife's risk of anaemia or underweight. Sex composition of the children was modestly associated with increased odds of anaemia among women from households with daughters only as compared with those with sons only [AOR: 1.19; 95% CI 1.04, 1.35]. The findings from this population‐based study of socio‐cultural norms around preference for a son and married Indian women's nutritional status do not support the hypothesis that husband's preference for sons influences the nutritional status of their wives. However, having daughters only is associated with maternal anaemia for reasons that remain to be established.
Systematic review and meta‐analysis investigating breast feeding and childhood wheezing illness
Authors: Brew Bronwyn K. , Allen C. Wendy , Toelle Brett G. , Marks Guy B. 
Published: September 2011

SummaryBrew BK, Allen CW, Toelle BG, Marks GB. Systematic review and meta‐analysis investigating breast feeding and childhood wheezing illness. Paediatric and Perinatal Epidemiology 2011; 25: 507–518.There is conflicting evidence concerning the relationship between breast feeding and wheezing illness. The objective of this study was to investigate whether there is any association between breast feeding and wheezing in children aged over 5 years and to discover possible sources of heterogeneity. An electronic search of MEDLINE and EMBASE databases was conducted from January 2000 to June 2010. In addition, reference lists from relevant publications were searched. Birth cohort, cross‐sectional and case–control studies were included if they measured any breast feeding or exclusive breast feeding for 3 or 4 months. Wheezing illness, including asthma, was identified based on symptoms, reported diagnosis or objective criteria. Thirty‐one publications were identified for meta‐analysis. There was no association found between any or exclusive breast feeding and wheezing illness, although there was a high level of heterogeneity between the studies. Subgroup analysis revealed that any breast feeding slightly lowers the odds of wheeze (pooled odds ratio 0.92 [0.86, 0.98]) but slightly increases the odds of asthma defined by specific criteria (pooled odds ratio 1.10 [1.00, 1.22]). This meta‐analysis does not provide evidence that breast feeding is protective against wheezing illness in children aged 5 years and over. The difference in the effects of breast feeding according to the nature of the wheezing illness highlights the importance of the heterogeneity of illness phenotypes.
Crustal taper and topography at passive continental margins
Authors: Osmundsen Per Terje , Redfield T. F. 
Published: September 2011

Terra Nova, 23, 349–361, 2011AbstractThe long‐term evolution of kilometre(s) high, seaward‐facing escarpments at passive margins is linked directly to the crustal thinning gradient. The development of ‘post‐rift’ faults in the onshore parts of the margin and the associated distribution of drainage patterns, landscape types and sediment dispersal patterns reflect this linkage. For the seismically well‐imaged Norwegian margin as well as for a number of passive margins worldwide, we identify a scaling relationship that correlates escarpment height with the distance to the highly extended distal margin or, more specifically, the taper break. The highest escarpments and the most asymmetric margin topography are found inboard of sharply tapering crystalline crust, independent of margin age. Conversely, escarpments are lower where the taper is gentle. Thus, the topography of passive margins does not primarily reflect age, magmatism, climate or mantle convection, but more probably the response to loading of the laterally variable, fault‐controlled architecture of the crystalline crust.
Cellulose synthesis via the FEI2 RLK/SOS5 pathway and CELLULOSE SYNTHASE 5 is required for the structure of seed coat mucilage in Arabidopsis
Authors: Harpaz‐Saad Smadar , McFarlane Heather E. , Xu Shouling , Divi Uday K. , Forward Bronwen , Western Tamara L. , Kieber Joseph J. 
Published: September 2011

SummaryThe seeds of Arabidopsis thaliana and many other plants are surrounded by a pectinaceous mucilage that aids in seed hydration and germination. Mucilage is synthesized during seed development within maternally derived seed coat mucilage secretory cells (MSCs), and is released to surround the seed upon imbibition. The FEI1/FEI2 receptor‐like kinases and the SOS5 extracellular GPI‐anchored protein were shown previously to act on a pathway that regulates the synthesis of cellulose in Arabidopsis roots. Here, we demonstrate that both FEI2 and SOS5 also play a role in the synthesis of seed mucilage. Disruption of FEI2 or SOS5 leads to a reduction in the rays of cellulose observed across the seed mucilage inner layer, which alters the structure of the mucilage in response to hydration. Mutations in CESA5, which disrupts an isoform of cellulose synthase involved in primary cell wall synthesis, result in a similar seed mucilage phenotype. The data indicate that CESA5‐derived cellulose plays an important role in the synthesis and structure of seed coat mucilage and that the FEI2/SOS5 pathway plays a role in the regulation of cellulose synthesis in MSCs. Moreover, these results establish a novel structural role for cellulose in anchoring the pectic component of seed coat mucilage to the seed surface.
Chromosomal rearrangements between tomato and Solanum chilense hamper mapping and breeding of the TYLCV resistance gene Ty‐1
Authors: Verlaan Maarten G. , Szinay Dóra , Hutton Samuel F. , de Jong Hans , Kormelink Richard , Visser Richard G.F. , Scott John W. , Bai Yuling 
Published: September 2011

SummaryTomato yellow leaf curl disease, a devastating disease of Solanum lycopersicum (tomato), is caused by a complex of begomoviruses generally referred to as Tomato yellow leaf curl virus (TYLCV). Almost all breeding for TYLCV resistance has been based on the introgression of the Ty‐1 resistance locus derived from Solanum chilense LA1969. Knowledge about the exact location of Ty‐1 on tomato chromosome 6 will help in understanding the genomic organization of the Ty‐1 locus. In this study, we analyze the chromosomal rearrangement and recombination behavior of the chromosomal region where Ty‐1 is introgressed. Nineteen markers on tomato chromosome 6 were used in F2 populations obtained from two commercial hybrids, and showed the presence of a large introgression in both. Fluorescence in situ hybridization (FISH) analysis revealed two chromosomal rearrangements between S. lycopersicum and S. chilense LA1969 in the Ty‐1 introgression. Furthermore, a large‐scale recombinant screening in the two F2 populations was performed, and 30 recombinants in the Ty‐1 introgression were identified. All recombination events were located on the long arm beyond the inversions, showing that recombination in the inverted region was absent. Disease tests on progenies of informative recombinants with TYLCV mapped Ty‐1 to the long arm between markers MSc05732‐4 and MSc05732‐14, an interval overlapping with the reported Ty‐3 region, which led to the indication that Ty‐1 and Ty‐3 may be allelic. With this study we prove that FISH can be used as a diagnostic tool to aid in the accurate mapping of genes that were introgressed from wild species into cultivated tomato.