bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy
Authors: Lachance‐Touchette Pamela , Brown Patricia , Meloche Caroline , Kinirons Peter , Lapointe Line , Lacasse Hélène , Lortie Anne , Carmant Lionel , Bedford Fiona , Bowie Derek , Cossette Patrick 
Published: June 2011

AbstractEpilepsy is a heterogeneous neurological disease affecting approximately 50 million people worldwide. Genetic factors play an important role in both the onset and severity of the condition, with mutations in several ion‐channel genes being implicated, including those encoding the GABAA receptor. Here, we evaluated the frequency of additional mutations in the GABAA receptor by direct sequencing of the complete open reading frame of the GABRA1 and GABRG2 genes from a cohort of French Canadian families with idiopathic generalized epilepsy (IGE). Using this approach, we have identified three novel mutations that were absent in over 400 control chromosomes. In GABRA1, two mutations were found, with the first being a 25‐bp insertion that was associated with intron retention (i.e. K353delins18X) and the second corresponding to a single point mutation that replaced the aspartate 219 residue with an asparagine (i.e. D219N). Electrophysiological analysis revealed that K353delins18X and D219N altered GABAA receptor function by reducing the total surface expression of mature protein and/or by curtailing neurotransmitter effectiveness. Both defects would be expected to have a detrimental effect on inhibitory control of neuronal circuits. In contrast, the single point mutation identified in the GABRG2 gene, namely P83S, was indistinguishable from the wildtype subunit in terms of surface expression and functionality. This finding was all the more intriguing as the mutation exhibited a high degree of penetrance in three generations of one French Canadian family. Further experimentation will be required to understand how this mutation contributes to the occurrence of IGE in these individuals.
Establishing a reference range for penile length in Caucasian British men: a prospective study of 609 men
Authors: Khan Shahid , Somani Bhaskar , Lam Wayne , Donat Roland 
Published: June 2011

Study Type – Diagnostic (validating cohort)Level of Evidence 2aWhat’s known on the subject? and What does the study add?Reference ranges for normal penile length have been reported from several different countries and anthropometric differences have been noted between different nationalities and ethnic backgrounds.This study describes one of the largest cohorts of men undergoing penile size measurements in Europe and the largest UK study. The range of measurements collected in this study will be of use to clinicians treating men with concerns over penile length, as well as helping to diagnose patients with true micropenis.OBJECTIVES• To establish a reference range for adult male genital size in the UK using penile length measurements.• To compare the reference ranges for normal penile length reported from several different countries and the anthropometric differences noted between different nationalities and ethnic backgrounds.METHODS AND MATERIALS• Over 20 months, genital measurements were taken from all men undergoing routine examination in clinics (n= 499) and in operating theatres during examination under anaesthetic (n= 110).• Using a rigid metric ruler three penile measurements were taken: flaccid pendulous penile length, flaccid penopubic penile length (to the pubic arch) and stretched flaccid penopubic length. In addition, testicular size was measured using an orchidometer.• The patient’s age and the reason for referral were recorded.• Statistical analysis was carried out using Pearson correlation analysis.RESULTS• Measurements from 610 patients aged 16–90 years were available for analysis.• The mean penile lengths were: pendulous length 8.7 cm (sd 1.6 cm), penopubic length 10.2 cm (sd 1.4 cm) and stretched length 14.3 cm (sd 1.7 cm). The mean testicular volume was 19.8 mL (sd 5.4 mL) for both left and right testicles.• Men with penile disease (including phimosis and Peyronie’s disease) had slightly reduced penile length (pendulous −3.3 mm, P= 0.014; penopubic −2.3 mm, P= 0.029; stretched −5.1 mm, P < 0.001) compared with other referral groups (erectile dysfunction, testicular disease, prostate and bladder disease).• There was no significant correlation between penile length and age or testicular sizeCONCLUSION• These data establish a reference range for adult male genital size in the UK, which should be helpful for urologists when counselling patients.
The impact of nerve sparing on incidence and location of positive surgical margins in radical prostatectomy
Authors: Moore Benjamin M. , Savdie Richard , PeBenito Ruth A. , Haynes Anne‐Maree , Matthews Jayne , Delprado Warick , Rasiah Krishan K. , Stricker Phillip D. 
Published: June 2011

Study Type – Therapy (case series)Level of Evidence 4What's known on the subject? and What does the study add?Nerve sparing radical prostatectomy has been associated with increased risk of positive surgical margins due to the close anatomical relationship of the neurovascular bundle to the posterolateral aspect of the prostatic fascia.Our study of 945 men who underwent radical prostatectomy be one experienced surgeon found no increased risk of positive surgical margins, whether the cancer was organ confined or extracapsular extension was present.OBJECTIVE
To examine whether nerve‐sparing surgery (NSS) is a risk factor for positive surgical margins (PSMs) in patients with either organ‐confined prostate cancer or extracapsular extension (ECE).
PATIENTS AND METHODS
Clinicopathological outcome data on 945 consecutive patients treated with radical prostatectomy (RP) were prospectively collected.
All patients underwent RP (bilateral, unilateral or non‐NSS) by one surgeon between 2002 and 2007.
Risk of PSMs and their locations with respect to NSS was determined by multivariate logistic regression analysis adjusting for preoperative risk factors for PSMs within pT2, pT3a and pT3b tumours.
RESULTS
Overall a PSM was identified in 19.6% of patients in an unscreened population with mean prostate‐specific antigen (PSA) level of 8.1 ng/mL.
There was no significant difference in rates of PSMs between NSS groups on multivariate analysis (P= 0.147).
There was no significant difference in pT2 (P= 0.880), pT3a (P= 0.175) or pT3b (P= 0.354) tumours.
The only significant predictor of PSMs was preoperative PSA level (risk ratio 1.289, P= 0.006).
There was no significant difference in the location of PSMs except for the pT3a group, where the patients that had bilateral NSS were at higher risk of a posterolateral PSM (P= 0.028).
CONCLUSIONS
With appropriate selection of patients, NSS does not increase the risk of PSMs, whether the cancer is organ confined or ECE is present.
The adverse impact of the NSS procedure in the hands of an experienced surgeon is minimal and is a realistic compromise to obtain the increase in health‐related quality of life offered by NSS.
Association and evolutionary studies of the melatonin receptor 1B gene (MTNR1B) in the self‐contained population of Sorbs from Germany
Authors: Dietrich K. , Birkmeier S. , Schleinitz D. , Breitfeld J. , Enigk B. , Müller I. , Böttcher Y. , Lindner T. , Stumvoll M. , Tönjes A. , Kovacs P. 
Published: June 2011

Diabet. Med. 28, 1373–1380 (2011)AbstractAims  Several polymorphisms of the melatonin receptor 1B gene (MTNR1B) have been shown to be associated with elevated fasting plasma glucose and impaired early insulin release. The aim of this study was to assess the effects of MTNR1B variants on traits related to the metabolic syndrome in the self‐contained population of Sorbs from Germany. As comprehensive studies concerning the conservation of MTNR1B are lacking, we also evaluated natural selection in vertebrates and human populations at this locus.Methods  Five single nucleotide polymorphisms representing all blocks of linkage disequilibrium within and surrounding the MTNR1B locus were genotyped in 937 Sorbs for association analyses on metabolic traits related to Type 2 diabetes. The associations were assessed by regression analyses, the conservation between species was investigated with phylogenetic analysis by maximum likelihood (PAML). In addition, various tests of population genetic measures (e.g. fixation index, Tajima’s D) were performed.Results  Previously reported association between MTNR1B variants (rs10830963, rs4753426) and oral glucose tolerance test‐derived indices of β‐cell function (homeostasis model assessment‐B, P = 3.7 × 10−6 and P = 0.004, respectively), as well as insulin (fasting insulin: P = 2 × 10−3 and P = 0.02; 30‐min insulin: P = 2.1 × 10−4 and P = 0.03, respectively) and fasting glucose (rs10830963, P = 1.2 × 10−6) parameters could be replicated in the present study. Phylogenetic analysis by maximum likelihood analyses showed that the gene was strongly conserved between species (ω = 0.2583). Structures important for the receptor function are also conserved. On the lineage leading to human adaptive selection was present (ω = 1.1030). Population genetic measures further indicated natural selection.Conclusions  Our data support the physiologic importance of MTNR1B in the context of glucose homeostasis and suggest evidence of selection at this locus.
Nurse teachers' working lives: a questionnaire survey of nursing schools in Mainland China
Authors: Gui L. , While A.E. , Chen G. , Barriball K.L. , Gu S. 
Published: June 2011

GUI L., WHILE A.E., CHEN G., BARRIBALL K.L. & GU S. (2011) Nurse teachers' working lives: a questionnaire survey of nursing schools in Mainland China. International Nursing Review58, 505–511Aim:  The study aimed to explore Chinese nurse teachers' views and experience regarding different components of their working lives.Methods:  A cross‐sectional survey of 18 schools of nursing offering nationally accredited baccalaureate nursing programmes across Mainland China was conducted. A total of 227 nurse teachers completed questionnaires yielding a response rate of 72%.Findings:  The sample comprised mainly female, married lecturers younger than 44 years with an average teaching experience of about 10 years. The respondents were satisfied with their overall job, work, supervision and co‐workers, but dissatisfied with their pay and promotion opportunities. There were statistically significant differences in several facets of job satisfaction across the respondents of different age groups, education levels, job titles and those working in the schools of different sizes. The respondents perceived their work environment to be only somewhat empowering. Their average level of professional identification was relatively high, but their overall role conflict, role ambiguity and sense of coherence were relatively low.Conclusion:  Chinese nurse teachers had a positive feeling towards their working lives, but strategies should be developed to enhance their sense of coherence and professional commitment. It is worth noting that there is still much adjustment to be made towards the new higher education roles, but the findings may only be generalizable to similar settings.
Condom promotion in Belize: self‐efficacy of Belizean nurses
Authors: Nash W.A. 
Published: June 2011

NASH W.A. (2011) Condom promotion in Belize: self‐efficacy of Belizean nurses. International Nursing Review58, 477–483Background:  Outside of abstinence, correct and consistent condom use is the single most effective tool to prevent the transmission human immunodeficiency virus (HIV). This is particularly true in countries such as Belize where incidence rates remain high. Women are physiologically at higher risk for HIV, and many feel powerless to insist on condom use. Although nurses are in a position to promote condom use, variables that influence this decision are not clearly understood. In this study, we examined variables that influence a nurses' self‐efficacy to promote and teach condom use to women specifically to reduce their HIV risk.Methods:  Data related to self‐efficacy, vicarious experience related to condom use promotion and a nurse's sexual relationship power were collected from nurses practising in Belize (n = 60). These data were cross‐sectional and collected at the annual nurses' conference.Results:  Both years of nursing education and positive vicarious experience promoting and teaching condom use to women were positively correlated to their self‐efficacy to do so. Vicarious experience was significantly correlated to self‐efficacy in a subgroup of nurses with lower sexual relationship power but not in those with higher sexual relationship power.Conclusions:  When designing HIV continuing education programmes for nurses in Belize, it is important to consider level of nursing education and access to vicarious experience such as mentoring and role modelling. An additional factor to consider is the influence that a nurse's power in her own primary sexual relationship may play in the formation of her self‐efficacy.
Relative importance of habitat and fishing in influencing reef fish communities across seventeen Pacific Island Countries and Territories
Authors: Pinca S , Kronen M , Magron F , McArdle B , Vigliola L , Kulbicki M , Andréfouët S 
Published: June 2011

AbstractReef fish assessments were undertaken in 17 Pacific islands to describe the status of finfish resources in 63 villages where fishing is mainly artisanal. Surveys were performed by recording the number and size of edible fish species and benthic composition. Fishing impact was described through six proxies representing level of catch, alternative incomes, degree of commercial catch and country economic development derived from a simultaneous socioeconomic assessment. The relative importance of broadly defined habitat (geographical location, island and reef type, substrate composition) and fishing impact in controlling the distribution of fish trophic groups, families and species was measured through multivariate analysis. The extreme faunistic diversity was shown by the large variation in fish density (difference of up to an order of magnitude) and fish biomass (displaying a 20‐fold difference across the region). Herbivores were dominant in the eastern part of the region, at what we classified as complex islands and at islands with small lagoon and at coastal reefs, while carnivores were dominant at oceanic islands and atolls and at outer reefs. Specific habitat associations were shown for Scaridae, Acanthuridae, Siganidae, Balistidae, Lethrinidae, Lutjanidae and Serranidae. Relative importance and size decrease of several fish families (Mullidae, Scaridae, Lutjanidae and Serranidae) were related to high fishing impact. Acanthuridae and Lethrinidae appeared to have a role as opportunistic groups in impacted sites. The relative impact from fishing and habitat on fishes accounted for, respectively, 20 and 30% of variance, demonstrating the effect of human impacts even at such large scale and taking into account only limited fishing impact variables.
The demise of the ARC journal ranking scheme: an ex post analysis of the accounting and finance journals
Authors: Moosa Imad 
Published: July 2011

AbstractThe recent abolition of the ARC journal ranking scheme is indicative of some problematical features of journal ranking in general and the ARC scheme in particular. An alternative citation‐based ranking scheme is applied to the accounting and finance journals to highlight some loopholes in the abandoned ARC scheme and provide some suggestions for how to proceed with ERA 2012. By re‐ranking journals according to their citation indices, it is demonstrated that the ARC ranking placed a large number of journals where they do not belong. As a result, the ARC scheme induced some adverse behavioural changes with respect to preferred publication outlets.
On the Concept of a Game
Authors: Ellis Jonathan 
Published: June 2011

AbstractIn an essay for Brian Leiter's turn‐of‐the‐millennium The Future for Philosophy, Thomas Hurka writes:
[A]n anti‐theoretical position is properly open only to those who have made a serious effort to theorize a given domain and found that it cannot succeed. Anti‐theorists who do not make this effort are simply being lazy, like Wittgenstein himself. . . . [I]n one of the great underappreciated books of the twentieth century Bernard Suits gives perfectly persuasive necessary and sufficient conditions for something's being a game.
In this note, it is shown that the conditions Suits and Hurka celebrate are neither necessary nor sufficient for something's being a game.
Constructing Commitment: Brandom's Pragmatist Take on Rule‐Following
Authors: Kiesselbach Matthias 
Published: June 2011

AbstractAccording to a standard criticism, Robert Brandom's “normative pragmatics”, i.e. his attempt to explain normative statuses in terms of practical attitudes, faces a dilemma. If practical attitudes and their interactions are specified in purely non‐normative terms, then they underdetermine normative statuses; but if normative terms are allowed into the account, then the account becomes viciously circular. This paper argues that there is no dilemma, because the feared circularity is not vicious. While normative claims do exhibit their respective authors' practical attitudes and thereby contribute towards establishing the normative statuses they are about, this circularity is not a mark of Brandom's explanatory strategy but a feature of social practice of which we theorists partake.
A distributed problem‐solving framework for probabilistic software effort estimation
Authors: Pendharkar Parag C. , Rodger James A. 
Published: June 2011

AbstractDistributed problem‐solving (DPS) systems use a framework of human organizational notions and principles of intelligent systems to solve complex problems. Human organizational notions are used to decompose a complex problem into sub‐problems that can be solved using intelligent systems. The solutions of these sub‐problems are combined to solve the original complex problem. In this paper, we propose a DPS system for probabilistic estimation of software development effort. Using a real‐world software engineering dataset, we compare the performance of the DPS system with a neural network (NN) and show that the performance of the DPS system is equal to or better than that of the NN with the additional benefits of modularity, probabilistic estimates, greater interpretability, flexibility and capability to handle incomplete input data.
Clinical characteristics of essential tremor in Taiwan: an exploratory‐comparative study
Authors: Chuang W.‐L. , Lu C.‐S. , Huang Y.‐Z. , Chen R.‐S. 
Published: June 2011

Background:  There are few large‐scale clinical analyses of essential tremor (ET) in Asia. We studied the detailed clinical profile with emphasizing the age of onset, tremor location, specific tremor patterns, and rate of progression (ROP) to delineate the characteristics of Taiwanese ET patients and found the difference between the Taiwanese and the Caucasians ET patients.Methods:  All ET patients fulfilled the Movement Disorders Society diagnosis criteria were investigated with a standardized assessment protocol, which including clinical evaluation, uniform severity scoring, self‐reported questionnaires, accelerometry, surface electromyography, and videotaped tremor examination.Results:  Of 219 patients recruited from July 2008 to October 2009, 153 completed the study protocol. Their mean age was 58.9 years and 47% were women, and 33.3% had family history (FH). There was bimodal distribution in age of tremor onset in patients without but not in those with FH. Head tremor (HT) was present in 48 of 153 (31%) patients. Patients with HT showed slower tremor frequency and less ROP than those without HT. Sixty‐seven (44%) patients presented with intention tremor (IT). Male gender and voice tremor were predictive factors of IT occurrence.Conclusions:  Comparing with the Caucasians, Taiwanese ET patients have different patterns of onset‐age distribution and lack of female predominance in ET with HT. However, patients with IT and without HT also progressed more rapid as found in the Caucasian.
Intergenerational relations and life satisfaction among older women in Taiwan
Authors: Lin Ju‐Ping , Chang Tse‐Fan , Huang Chiu‐Hua 
Published: June 2011

Lin J‐P, Chang T‐F, Huang C‐H. Intergenerational relations and life satisfaction among older women in TaiwanInt J Soc Welfare 2011: 20: S47–S58 © 2011 The Author(s), International Journal of Social Welfare © 2011 Blackwell Publishing Ltd and the International Journal of Social Welfare.This study examined the relationship between intergenerational relations and life satisfaction among older women (aged 55 years and older) in Taiwan. According to intergenerational solidarity theory, intergenerational relations are dictated by various components: living arrangements, intergenerational support exchange, intergenerational affection, and intergenerational norms. Data were obtained from the 2006 Taiwan Social Change Survey (N= 281). The main results show that intergenerational relations have a significant effect on the life satisfaction of older women. Western studies have found that playing the giver's role increases the life satisfaction of older people. However, the present study found that being mainly a recipient of support from adult children is related to a higher level of life satisfaction among older Taiwanese women. This study also underscores the importance of the emotional component in intergenerational relations to the well‐being of older people. In Taiwan, stronger emotional bonds with adult children increases older women's life satisfaction.
Depressive symptoms of older adults in Hong Kong: the role of grandparent reward
Authors: Lou Vivian W.Q. 
Published: June 2011

Lou VWQ. Depressive symptoms of older adults in Hong Kong: the role of grandparent rewardInt J Soc Welfare 2011: 20: S135–S147 © 2011 The Author(s), International Journal of Social Welfare © 2011 Blackwell Publishing Ltd and the International Journal of Social Welfare.This study explored the relationship between depressive symptoms and grandparent reward among older adults in Hong Kong. Some 215 older people, whose youngest grandchildren were 12 years or older, were recruited from elderly service agencies. Face‐to‐face interviews were conducted by trained interviewers using a standardized questionnaire. Hierarchical regression showed that the depressive symptoms of the respondents were affected significantly by perceived relation‐oriented grandparent reward (R2 change = 0.07, Fchange= 8.67, p < 0.001), controlling for demographic characteristics, general social support, attitude toward Chinese tradition, self‐rated health, and self‐rated financial adequacy. Policy and practice aimed at assuaging depression in the Chinese context should pay attention to the roles of intergenerational activities beyond nuclear families. Efforts to promote grandparent roles in a modernized China, in the face of transforming living arrangements and child‐rearing practices, need to focus on intergenerational activities that enhance esteem and provide positive experiences embedded in interpersonal relations.