bluuebunny/crossref_metadata_2025_split huggingface dataset:
C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Authors: Alazami AM , Schneider SA , Bonneau D , Pasquier L , Carecchio M , Kojovic M , Steindl K , De Kerdanet M , Nezarati MM , Bhatia KP , Degos B , Goh E , Alkuraya FS 
Published: April 2010

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients.Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum of this disorder. Genetic analysis revealed a novel mutation in each of the four families investigated, of which three were nonsense mutations and the fourth was a splice site ablation. We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. The lack of correlation between clinically expressivity of WSS and the site of the eight truncating mutations strongly supports that they are equally null, while the intrafamilial variability argues for an important role of modifiers in this disease.
Treatment of ureteral complications after kidney transplantation with native ureteropyelostomy reduces the risk of pyelonephritis
Authors: Lehmann Kuno , Müller Markus K. , Schiesser Marc , Wildi Stefan , Fehr Thomas , Wüthrich Rudolf P. , Clavien Pierre‐Alain , Weber Markus 
Published: April 2010

Lehmann K, Müller MK, Schiesser M, Wildi S, Fehr T, Wüthrich RP, Clavien P‐A, Weber M. Treatment of ureteral complications after kidney transplantation with native ureteropyelostomy reduces the risk of pyelonephritis.  Clin Transplant 2011: 25: 201–206. © 2010 John Wiley & Sons A/S.Abstract:  Urological complications contribute to morbidity and graft loss after kidney transplantation. Aim of this study was to assess the role of revisional surgery on patient outcome. From 1997 to 2007, 887 patients underwent kidney transplantation in our institution. Clinical data of patients with urological complications were analyzed. Ureteral complications were observed in 50 of 887 (5.6%) recipients, including ureteral necrosis (0.9%), stenosis (3.6%) and ureteral reflux with recurrent graft pyelonephritis (1.1%). Thirty‐five patients underwent native ureteropyelostomy, and 14 patients had redo‐ureterocystostomy. All patients treated for recurrent graft pyelonephritis had no further episodes. Overall, the rate of ureteral stenosis was significantly higher after secondary surgery, compared to the primary anastomosis (10% vs. 3.6%, p = 0.039). A significantly lower incidence of graft pyelonephritis was observed in patients after native ureteropyelostomy compared to patients treated with redo‐ureterocystostomy (p = 0.019). In conclusion, reflux and recurrent graft pyelonephritis can be treated effectively by secondary surgery. The use of native ureteropyelostomy may offer protection from graft pyelonephritis after secondary surgery.
Recurrent neonatal seizures result in long‐term increases in neuronal network excitability in the rat neocortex
Authors: Isaeva Elena , Isaev Dmytro , Savrasova Alina , Khazipov Rustem , Holmes Gregory L. 
Published: April 2010

AbstractNeonatal seizures are associated with a high likelihood of adverse neurological outcomes, including mental retardation, behavioral disorders, and epilepsy. Early seizures typically involve the neocortex, and post‐neonatal epilepsy is often of neocortical origin. However, our understanding of the consequences of neonatal seizures for neocortical function is limited. In the present study, we show that neonatal seizures induced by flurothyl result in markedly enhanced susceptibility of the neocortex to seizure‐like activity. This change occurs in young rats studied weeks after the last induced seizure and in adult rats studied months after the initial seizures. Neonatal seizures resulted in reductions in the amplitude of spontaneous inhibitory postsynaptic currents and the frequency of miniature inhibitory postsynaptic currents, and significant increases in the amplitude and frequency of spontaneous excitatory postsynaptic currents (sEPSCs) and in the frequency of miniature excitatory postsynaptic currents (mEPSCs) in pyramidal cells of layer 2/3 of the somatosensory cortex. The selective N‐methyl‐d‐aspartate (NMDA) receptor antagonist d‐2‐amino‐5‐phosphonovalerate eliminated the differences in amplitude and frequency of sEPSCs and mEPSCs in the control and flurothyl groups, suggesting that NMDA receptors contribute significantly to the enhanced excitability seen in slices from rats that experienced recurrent neonatal seizures. Taken together, our results suggest that recurrent seizures in infancy result in a persistent enhancement of neocortical excitability.
Temporal patterns in overweight and obesity in Type 1 diabetes
Authors: Conway B. , Miller R. G. , Costacou T. , Fried L. , Kelsey S. , Evans R. W. , Orchard T. J. 
Published: April 2010

Diabet. Med. 27, 398–404 (2010)AbstractAims  Time trends in overweight and obesity in the general population have been well documented; however, temporal patterns in Type 1 diabetes (T1DM) have not been thoroughly investigated. We therefore assessed temporal patterns in overweight and obesity and predictors of weight change in 589 individuals from the Pittsburgh Epidemiology of Diabetes Complications Study, a cohort of childhood‐onset T1DM.Methods  Participants were first seen in 1986–1988, when mean age and diabetes duration were 29 and 20 years, respectively, and biennially thereafter for 18 years. Overweight was defined as 25.0 ≤ body mass index (BMI) < 30.0 kg/m2. Obesity was defined as BMI ≥ 30.0 kg/m2.Results  At baseline, the prevalence of overweight and obesity were 28.6% and 3.4%, respectively. After 18 years’ follow‐up, the prevalence of overweight increased by 47% while the prevalence of obesity increased sevenfold. Seven per cent were on intensive insulin therapy (≥ 3 insulin injections per day or on insulin pump) at baseline; by 2004–2007, this was 82%. Predictors of weight change were a higher baseline HbA1c, symptomatic autonomic neuropathy (inversely), overt nephropathy (inversely), and going onto intensive insulin therapy during follow‐up.Conclusions  These data demonstrate dramatic weight gain in T1DM and underscore the complexity of weight change in this disease.
Field and climate‐based model for predicting the density of host‐seeking nymphal Ixodes scapularis, an important vector of tick‐borne disease agents in the eastern United States
Authors: Diuk‐Wasser Maria A. , Vourc'h Gwenaël , Cislo Paul , Hoen Anne Gatewood , Melton Forrest , Hamer Sarah A. , Rowland Michelle , Cortinas Roberto , Hickling Graham J. , Tsao Jean I. , Barbour Alan G. , Kitron Uriel , Piesman Joseph , Fish Durland 
Published: April 2010

ABSTRACTAim  Ixodes scapularis is the most important vector of human tick‐borne pathogens in the United States, which include the agents of Lyme disease, human babesiosis and human anaplasmosis, among others. The density of host‐seeking I. scapularis nymphs is an important component of human risk for acquiring Borrelia burgdorferi, the aetiological agent of Lyme disease. In this study we used climate and field sampling data to generate a predictive map of the density of host‐seeking I. scapularis nymphs that can be used by the public, physicians and public health agencies to assist with the diagnosis and reporting of disease, and to better target disease prevention and control efforts.Location  Eastern United States of America.Methods  We sampled host‐seeking I. scapularis nymphs in 304 locations uniformly distributed east of the 100th meridian between 2004 and 2006. Between May and September, 1000 m2 were drag sampled three to six times per site. We developed a zero‐inflated negative binomial model to predict the density of host‐seeking I. scapularis nymphs based on altitude, interpolated weather station and remotely sensed data.Results  Variables that had the strongest relationship with nymphal density were altitude, monthly mean vapour pressure deficit and spatial autocorrelation. Forest fragmentation and soil texture were not predictive. The best‐fit model identified two main foci – the north‐east and upper Midwest – and predicted the presence and absence of I. scapularis nymphs with 82% accuracy, with 89% sensitivity and 82% specificity. Areas of concordance and discordance with previous studies were discussed. Areas with high predicted but low observed densities of host‐seeking nymphs were identified as potential expansion fronts.Main conclusions  This model is unique in its extensive and unbiased field sampling effort, allowing for an accurate delineation of the density of host‐seeking I. scapularis nymphs, an important component of human risk of infection for B. burgdorferi and other I. scapularis‐borne pathogens.
Classifying tagging experiments for commercial fisheries into three fundamental types based on design, data requirements and estimable population parameters
Authors: Polacheck Tom , Paige Eveson J , Laslett Geoff M 
Published: April 2010

AbstractMark–recapture experiments have the potential to provide direct estimates of fundamental parameters required for fishery stock assessment and provision of subsequent management advice in fisheries. The literature on mark–recapture experiments is enormous, with a variety of different experimental designs and estimation models; thus, it can be difficult to grasp the primary features of different approaches, the inter‐relationship among them and their potential utility in different situations. Here, we present an overview of the tagging experimental designs that are appropriate for use in commercial fishery situations. We suggest that most mark–recapture experiments in a large‐scale fishery context can be classified into one of three basic types – Petersen, tag‐attrition or Brownie – based on the fundamental design employed for releases and recaptures. The release and recapture strategy (e.g. the number of release events, whether the size of the sample examined for recaptured tags is known) determines which parameters can be estimated and from where the information for estimating them arises. We conclude that an integrated Brownie and Petersen approach is the most powerful of the different approaches in terms of the range of parameters that can be estimated without underlying assumptions or constraints on parameters. Such an approach can provide direct estimates of fishing mortality, natural mortality and population size, which are the main population dynamics parameters that traditional fishery stock assessments attempt to estimate.
The Contard Affair: Private Power, State Control, and Paternal Authority in Fin‐de‐Siècle France
Authors: TOTH STEPHEN A. 
Published: April 2010

AbstractThis paper examines how the suicide of a teenager illuminated a longstanding ideological divide in fin‐de‐siècle France. Five days after his arrival at the Maison Paternelle, an internationally renowned, privately‐operated establishment for bourgeois boys, Gaston Contard committed suicide. The suicide was quickly sensationalized in the press and resulted in a wide‐ranging investigation by public prosecutors who charged the institution's director with illegal imprisonment. Although acquitted, this was a pyrrhic victory as the event marked a critical turning point in the relationship between private power, state control and paternal authority as it pertained to the incarceration and socialization of troubled youths.
Audit of nutritional and dietary outcomes of bariatric surgery patients
Authors: Harbottle L. 
Published: April 2010

SummaryBariatric surgery is the most effective means of achieving sustainable weight loss for the morbidly obese but resultant gastrointestinal functional changes and altered diet may lead to a number of eating and nutritional problems. This audit was conducted to evaluate Guernsey outcomes in relation to UK national standards and to determine the adequacy of current dietetic provision. A postal questionnaire was sent to 177 patients. Sixty‐eight responded (48 gastric bypass, 15 banding and five other procedures). Mean body mass index preoperatively was 44.2 (five had body mass index <35). Five respondents (7%) had received preoperative and 26 post‐operative dietary advice. Only 12 (18%) received any dietetic follow‐up. Only one patient had any psychological support. Mean maximal weight loss and regain was 42.7 kg and 4.5 kg, respectively. Micronutrient supplementation and monitoring was variable. Deficiencies of B12 (44%), iron (25%), vitamin D (10.2%) and folate (6.2%) were recorded. Problems with food intolerances were common and often protracted. The majority of respondents expressed satisfaction with the procedure, but many recognized that it had not solved their food‐related issues. There was dissatisfaction with dietetic intervention. Overall, current treatment was shown to fall short of UK standards. A number of recommendations have been made to improve future outcomes, including re‐audit and improved dietetic service provision.
Childhood body mass index and risk of asthma in adolescence: a systematic review
Authors: Noal R. B. , Menezes A. M. B. , Macedo S. E. C. , Dumith S. C. 
Published: April 2010

SummaryAsthma and obesity, both of which are considered global health issues, affect approximately 300 million individuals worldwide. The observation that asthma and obesity tend to increase in parallel may indicate a potential link between these two conditions. The aim of this systematic review of the literature was to investigate the relationship between childhood nutritional status and incidence or persistence of asthma during adolescence. The principal eligibility criteria for selection of articles were including longitudinal analysis, and which measured of exposure during childhood or adolescence and outcome during adolescence. The systematic search initially returned 1563 unique articles. After inspection of titles and reading the abstracts of these articles, we chose 27 for full reading. Of these, 10 were selected to be included in the present review. Of the 10 selected studies, eight showed positive associations between overweight/obesity and asthma. Of these, two were independent of sex, three were found only among men and another three only among women. The present study shows strong evidence that, although the role of sex is not clear, obesity precedes, and is associated with, the persistence and intensity of symptoms of asthma.
Modulation of heteromeric P2X1/5 receptors by phosphoinositides in astrocytes depends on the P2X1 subunit
Authors: Ase Ariel R. , Bernier Louis‐Philippe , Blais Dominique , Pankratov Yuriy , Séguéla Philippe 
Published: April 2010

J. Neurochem.(2010)113, 1676–1684.AbstractPurinergic signaling is critical for neuron‐glia communication. Glial cells participate in synaptic transmission and express metabotropic P2Y as well as ionotropic P2X ATP receptors. In astrocytes, endogenous ATP‐evoked currents with kinetics and pharmacology characteristic of the heteromeric P2X1/5 receptor channel have recently been reported. We investigated the interaction of major phosphoinositides with heteromeric P2X1/5 channels. Using patch‐clamp electrophysiology on enhanced green fluorescent protein‐expressing astrocytes acutely isolated from cortical slices of transgenic mice, we report a strong modulation of P2X1/5‐like currents by phosphoinositides. Wortmannin‐induced depletion of phosphoinositides decreases the amplitude of both the fast and sustained component of the P2X1/5‐like currents although recovery and kinetics remain intact. In transfected human embryonic kidney cells, we provide evidence that depleting phosphatidylinositol 4,5‐bisphosphate [PI(4,5)P2] levels significantly decreases P2X1/5 currents while intracellular application of PI(4,5)P2completely rescued P2X1/5 currents, ruling out the involvement of phosphatidylinositol 3,4,5‐trisphosphate. In contrast to P2X1, homomeric P2X5 current responses were found insensitive to phosphoinositides, and the C‐terminus of P2X5 subunit lacked binding to phospholipids in an overlay assay. Our results suggest that the contribution of calcium‐permeable heteromeric P2X1/5 receptor channels to the excitability of astrocytes is modulated by PI(4,5)P2through the P2X1 lipid‐binding domain.
Tear lipocalin and lysozyme concentrations in postmenopausal women
Authors: Srinivasan Sruthi , Joyce Elizabeth , Boone Adrienne , Simpson Trefford , Jones Lyndon , Senchyna Michelle 
Published: April 2010

AbstractPurpose:  To investigate the potential relationship between subjective symptomatology, tear volume, and tear break up time with tear film lipocalin and lysozyme concentrations in a group of symptomatic dry‐eyed postmenopausal (PM) women compared to age‐matched controls.Methods:  Eighty‐five healthy PM females (>50 years of age) were categorized as mild or moderate dry eye (DE), or asymptomatic [non‐dry eye (NDE)] based on their responses to the Ocular Surface Disease Index (OSDI) questionnaire. Non invasive tear breakup time (NITBUT) and tear secretion were measured. Tears were collected via capillary tube and an eye wash method. Tear lysozyme and lipocalin concentrations were determined via Western blotting.Results:  Ocular Surface Disease Index responses revealed 16 mild DE, 30 moderate DE, and 39 NDE. The OSDI total score and sub scores for the DE groups were significantly greater than for the NDE group (p < 0.001). The mild and moderate DE groups exhibited significantly shorter NITBUTs compared to NDE (p < 0.004). Tear secretion using the Phenol Red Thread (PRT) test was found to be significantly lower in the moderate DE group compared to NDE (p < 0.001). No difference in tear lysozyme or lipocalin concentration was found between DE and NDE groups, irrespective of tear collection method, although method of collection significantly influenced absolute concentrations (p < 0.008). Significant correlations were not found between symptoms or signs of DE compared to either lipocalin or lysozyme concentration.Conclusion:  Within a PM population, lipocalin and lysozyme are invariant, irrespective of the presence and severity of DE symptoms. This is the first comprehensive study of lipocalin and lysozyme in dry‐eyed PM women and our results suggest that neither protein would offer utility as a biomarker of DE.
Comparison of alternate cover test reliability at near in non‐strabismus between experienced and novice examiners
Authors: Hrynchak Patricia K. , Herriot Christopher , Irving Elizabeth L. 
Published: April 2010

AbstractPurpose:  The purpose of this study was to determine the reliability of the prism neutralized alternate cover test (ACT) used to measure near phoria in non‐strabismic participants as measured by experienced and novice examiners and to compare the values to results obtained by eye tracking.Methods:  Two experienced optometrists and two optometry students performed the ACT at 40 cm on 50 non‐strabismic participants. The ACT was then repeated with the subjects wearing an eye tracker. The saccade amplitude of the eye movement recordings was used to determine the phoria. The reliability was determined using Bland–Altman analysis to determine the mean of the differences in the groups and the 95% limits of agreement.Results:  The phoria range determined by the eye tracker was between 6 pd eso and 19 pd exo. The mean of the difference in values and 95% limits of agreement between the experienced examiners was 0.7 ± 3.0 pd; between the novice examiners was −0.1 ± 4.4 pd; between the experienced and novice examiners was 0.8 ± 3.5 pd; between the eye tracker and the experienced examiners was 0.6 ± 3.5 pd; between the eye tracker and novice examiners was 1.4 ± 3.6 pd.Conclusions:  The mean differences of the ACT result between experienced examiners, novice examiners, and the eye tracker, were not clinically meaningful. However, the 95% limits of agreement were quite high (±3.0–4.4 pd). This information is useful for clinical decision making, student education and student evaluation.
Linking sustainable consumption and production: The government role
Authors: Stevens Candice 
Published: April 2010

AbstractAchieving sustainable development depends on comprehensive approaches which integrate consumption and production initiatives. At present, sustainable consumption is being overemphasized to the neglect of the more important production side. This paper examines the role of governments in promoting sustainable consumption and production to identify gaps in national schemes which reduce their overall effectiveness. Public policy tools promoting sustainable consumption and production are discussed in terms of whether they are aimed at correcting: 1) market failures (regulations, taxes, subsidies); or 2) systems failures (labels, communications, education, public procurement). The challenge for governments is to link sustainable consumption initiatives to policies aimed at increasing the sustainability of production in the private sector in both their national and international dimensions. In this way, governments can enlist the aid of consumers in pushing producers towards sustainability and to achieve the ultimate goal of sustainable development.
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3
Authors: Heron Sarah E. , Scheffer Ingrid E. , Grinton Bronwyn E. , Eyre Helen , Oliver Karen L. , Bain Sharon , Berkovic Samuel F. , Mulley John C. 
Published: April 2010

SummaryA family with dominantly inherited neonatal seizures and intellectual disability was atypical for neonatal and infantile seizure syndromes associated with potassium (KCNQ2 and KCNQ3) and sodium (SCN2A) channel mutations. Microsatellite markers linked to KCNQ2, KCNQ3, and SCN2A were examined to exclude candidate locations, but instead revealed a duplication detected by observation of three alleles for two markers flanking SCN2A. Characterization revealed a 1.57 Mb duplication at 2q24.3 containing eight genes including SCN2A, SCN3A, and the 3′ end of SCN1A. The duplication was partially inverted and inserted within or near SCN1A, probably affecting the expression levels of associated genes, including sodium channels. Rare or unique microchromosomal copy number mutations might underlie familial epilepsies that do not fit within the clinical criteria for the established syndromes.