bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding
Authors: Kang Hee Gyung , Ahn Yo Han , Kim Jeong Hun , Ha Il‐Soo , Yu Young Suk , Park Yong‐Hoon , Cheong Hae Il 
Published: November 2014

AbstractBackgroundProgressive retinal degeneration without retinal pigmentation has been repeatedly observed in Korean nephronophthisis (NPHP) type 1 patients with a total homozygous deletion of NPHP1.DesignRetrospective case series.ParticipantsPatients with clinical diagnosis of NPHP and genetic diagnosis of total deletion of NPHP1 (n = 5) were included in this study.MethodsPatients with clinical diagnosis of NPHP (n = 57) were screened for total deletion of NPHP1 by polymerase chain reaction (PCR) for the 20 exons of NPHP1. The clinical and ophthalmological findings of NPHP type 1 patients were reviewed. Additionally, four exons of MALL, a gene adjacent to NPHP1, were amplified using PCR, and amplification failure was considered a homozygous deletion encompassing the corresponding exons.Main Outcome MeasureOphthalmological findings in NPHP type 1 patients.ResultsFive of 57 patients with clinical diagnosis of NPHP were diagnosed as having NPHP type 1 by genetic analysis. Chronic renal failure was diagnosed in these five patients at 7.9–15.4 years of age. All the patients with NPHP type 1 had progressive decline in visual acuity with various ages of onset (2–17 years). Ophthalmological examinations revealed unexpected findings of retinopathy with large or small flecks, which was compatible with Stargardt‐like retinopathy or albipunctatus retinopathy in majority of them (four of five). The genetic study revealed an additional deletion of exon 1 of the adjacent gene MALL.ConclusionsWe report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort.
Evaluation of prognostic differences in elderly patients with pneumonia treated by between pulmonologists and non‐pulmonologists: a propensity score analysis
Authors: Komiya Kosaku , Oka Hiroaki , Ohama Minoru , Uchida Masahiro , Miyajima Hajime , Iwashita Tomohiko , Okabe Eiji , Shuto Osamu , Matsumoto Taisuke , Ishii Hiroshi , Kadota Jun‐ichi 
Published: November 2014

AbstractIntroductionThe incidence of pneumonia among elderly people is increasing in aged countries, and both pulmonologists and non‐pulmonologists treat such patients.ObjectivesThe aim of this study was to assess prognostic differences between elderly patients treated by pulmonologists and those treated by non‐pulmonologists.MethodsThis study was a retrospective cohort using a propensity score analysis. Patients 65 years of age or over with pneumonia were consecutively included. The propensity score was estimated based on the patient's background and severity of pneumonia. The difference in 30‐day and 90‐day mortality depending on the attending physician's specialty was analyzed after adjusting for other variables, including the propensity score.ResultsWe assessed 68 and 182 patients treated by pulmonologists and non‐pulmonologists, respectively. The pulmonologists tended to be in charge of patients with hypoxemia, chronic obstructive pulmonary disease or dementia without aspiration pneumonia or renal dysfunction (area under receiver operating characteristic curve to predict treatment by a pulmonologist according to the propensity score = 0.737, P < 0.001). In the multivariate analysis, white blood count cell (adjusted hazard ratio, 1.000, P = 0.030) and the serum albumin level (0.382, P = 0.001) were associated with 30‐day mortality, and a bedridden status (3.000, P = 0.013) and the serum albumin level (0.382, P < 0.001) were associated with 90‐day mortality; however, the attending physician's specialty was not associated with these prognoses.ConclusionsThe overall prognosis of pneumonia in elderly patients may not necessarily improve, irrespective of treatment by pulmonologists, and host factors seemed to be associated with mortality.
Synthesis of a molecularly imprinted polymer to isolate glucosamine from plant extracts by an ionic–non‐covalent dual approach
Authors: Henry N. , Favetta P. , Delépée R. , Seigneuret J.‐M. , Agrofoglio L. A. 
Published: November 2014

SynopsisObjectiveThe objective of this study was to synthesize a novel glucosamine‐imprinted sorbent based on ionic and non‐covalent dual approach to purify glucosamine from chicory root extracts.MethodsThe synthesis of the molecularly imprinted polymer was optimized in terms of choice of monomers, porogen, cross‐linker and initiator to have the best recognition as possible for targeted molecule. The sorbent obtained was characterized by nitrogen sorption (BET), scanning electron microscopy (SEM) and solid‐phase extraction (SPE) to plot adsorption isotherms. The selectivity of polymer between glucosamine and interfering salt as ammonium sulphate was calculated. Extraction procedure was optimized in terms of loading, washing and elution solvents, to have the best recovery of glucosamine. Compounds were analysed by HPLC‐UV after chemical derivatization.ResultsThe results showed that the optimal conditions of extracting glucosamine on this new type of sorbent were as follows: percolation of plant extract in EtOH/aqueous HCl pH 3, washing of cartridge with water and elution of compound of interest with aqueous acetic acid solution at 5%. The recoveries of glucosamine were around 53% and 70%, from aqueous standard solution and aqueous chicory roots extracts, respectively, on the molecularly imprinted polymer. And, only 11% and 7% of the ammonium sulphate were recovered from standard solution and chicory roots extract, respectively.ConclusionThe use of the MIP as solid‐phase extraction sorbent was able to extract preferentially glucosamine from structural analogues and ammonium salt. Assays on chicory roots extracts were carried out, and the MIP showed good results allowing the transfer methodology at semi‐industrial scale for cosmetic companies. The optimized protocol of extraction of glucosamine allowed using only eco‐friendly solvents, as ethanol, water and acetic acid.
Running suture versus interrupted suture for vesicourethral anastomosis in retropubic radical prostatectomy: A randomized study
Authors: Matsuyama Hideyasu , Matsumoto Hiroaki , Nagao Kazuhiro , Harada Noriaki , Hara Takahiko , Sakano Shigeru 
Published: November 2014

ObjectivesTo determine the feasibility of vesicourethral anastomosis using running suture during retropubic radical prostatectomy and to compare the surgical outcomes of vesicourethral anastomosis using running suture with those of the standard interrupted suture technique.MethodsA total of 60 patients undergoing radical prostatectomy from 2010 to 2012 at the Yamaguchi University Hospital, Japan were included in the present study, and were randomly assigned to vesicourethral anastomosis using running suture (n = 30 patients) or a standard interrupted suture technique group (n = 30 patients). Vesicourethral anastomosis using running suture was carried out with 12‐bite sutures using 3‐0 poliglecaprone. The primary end‐point was the time to catheter removal. Patients' health‐related quality of life was assessed using the Expanded Prostate Cancer Index Composite in 56 patients (28 patients in each group).ResultsNo significant difference was found in the median suturing time between the two study groups (both 19 min, P = 0.449). The time to catheter removal was significantly better in the vesicourethral anastomosis using running suture group (hazard ratio 5.23, 95% confidence interval 1.73–17.65, P = 0.003). The pad‐free rate was significantly higher in the vesicourethral anastomosis using running suture group at 1 month after surgery (20.7% vs 3.3%, P = 0.0463); however, there was no significant difference at 3 months and beyond. The Expanded Prostate Cancer Index Composite urinary and bowel summary scores at 1 month were significantly better in the vesicourethral anastomosis using running suture patients (both P < 0.01), though no significant difference was observed thereafter. A vesicourethral anastomosis stricture was noted in three patients (10%) in the standard interrupted suture technique group, and none in the vesicourethral anastomosis using running suture group.ConclusionRunning suture for vesicourethral anastomosis is feasible during retropubic radical prostatectomy. Furthermore, it offers better outcomes than the conventional standard interrupted suture technique, with a higher likelihood of improvement in patients' health‐related quality of life.
The impact of dialogic book‐sharing training on infant language and attention: a randomized controlled trial in a deprived South African community
Authors: Vally Zahir , Murray Lynne , Tomlinson Mark , Cooper Peter J. 
Published: November 2014

BackgroundDialogic book‐sharing is an interactive form of shared reading. It has been shown in high income countries (HICs) to be of significant benefit to child cognitive development. Evidence for such benefit in low and middle income countries (LMICs) is scarce, although a feasibility study of our own produced encouraging findings. Accordingly, we aimed to establish the impact on child language and attention of providing training in dialogic booksharing to carers of infants in an impoverished South African community.MethodsWe conducted a randomized controlled trial in Khayelitsha, an informal settlement in South Africa. Mothers of infants aged between 14 and 16 months were recruited and randomized to either 8 weeks of manualized training in dialogic book‐sharing or a no‐intervention control group. Independent assessments were made of infant language and attention at baseline and following training. The trial was registered (ISRCTN39953901).ResultsNinety one carer‐infant dyads were recruited and randomized to the intervention group (n = 49) or the control group (n = 42), 82 (90%) of whom were available for follow‐up assessments. On a standardized carer report of infant vocabulary, compared to those in the control group, carers who received the intervention reported a significantly greater increase in the number of words understood by their infants as well as a larger increase in the number of words that their infant understood and could vocalize. Intervention group children also showed substantially greater gains on a measure of sustained attention.ConclusionsIn line with evidence from HICs, a dialogic book‐sharing programme delivered to an impoverished South African sample was shown to be of considerable benefit to the development of child language and focussed attention. The training programme, which is simple and inexpensive to deliver, has the potential to benefit child cognitive development in LMIC contexts where such development is commonly compromised.
DEVELOPMENT AND PSYCHOMETRIC TESTING OF THE SELF‐CARE AGENCY SCALE FOR PATIENTS UNDERGOING LONG‐TERM DIALYSIS IN TURKEY
Authors: Ören Besey , Enç Nuray 
Published: November 2014

SUMMARYBackgroundNo instruments specifically evaluating the self‐care agency of patients on dialysis have been developed before. This methodological study aimed to develop a Self‐Care Agency Scale for patients on long‐term dialysis and to test the scale's psychometric properties.Design and MeasurementThis cross‐sectional methodological design study comprised 175 haemodialysis and 125 peritoneal dialysis patients receiving treatment at five different medical centres in Istanbul. The Self‐Care Agency Scale items were generated after reviewing the literature and considering Orem's self‐care model. Content validity was tested on the basis of the views of experts, and a pilot study was conducted. The construct validity and reliability of the Self‐Care Agency Scale were tested.ResultsThe final version of the scale was administered to 300 patients. Intraclass correlation coefficients showed stability of subscales. An exploratory factor analysis was performed. Cronbach's alpha coefficients were acceptable across all groups, as were item‐total correlations.ConclusionThe Self‐Care Agency Scale is a valid and reliable instrument for patients on long‐term dialysis.
The Test–Retest Reliability of the Peyronie's Disease Questionnaire
Authors: Coyne Karin S. , Currie Brooke M. , Thompson Christine L. , Smith Ted M. 
Published: November 2014

Abstract

Introduction
The Peyronie's Disease Questionnaire (PDQ) is a disease-specific, patient-reported outcome instrument designed to measure the psychosexual consequences and treatment outcomes of Peyronie's disease (PD).

Aim
The aim of this study was to evaluate the test–retest reliability of the PDQ.

Methods
Adult men with PD were recruited through eight clinical sites across the United States. Participants completed the PDQ during two study visits scheduled 7 (±3) days apart. At Visit 1, participants completed a sociodemographic questionnaire, the PDQ, and the International Index of Erectile Function (IIEF). At Visit 2, participants repeated the PDQ and completed an Overall Treatment Effect (OTE) scale. Test–retest reliability of the PDQ was assessed in a stable subsample (as determined by responses to the OTE). Intraclass correlation coefficients (ICCs) were calculated to evaluate the degree of association between the three PDQ subscale scores at Visits 1 and 2. Internal consistency of the subscales was also evaluated using Cronbach's alpha.

Main Outcome Measure
The main outcome measure was the PDQ.

Results
Of the 61 PD patients (mean age 59.3) who took part in the study, the majority were not receiving treatment for their PD (n = 35, 57.4%). The sample's mean score on the erectile function domain of IIEF was 19.7 (±8.2), indicating mild–moderate dysfunction. Nearly two-thirds reported penile pain at baseline (n = 37, 63.8%). Of the participants with baseline PDQ data and who had engaged in vaginal intercourse in the past 3 months, 57 completed both study visits. The PDQ demonstrated excellent test–retest reliability in 53 stable patients. The ICC was 0.85 for the Psychological and Physical Symptom subscale, 0.89 for the Peyronie's Symptom Bother subscale, and 0.88 for the Penile Pain subscale. The Cronbach's alpha estimates for all three subscales were acceptable at the &gt;0.70 level.

Conclusions
The PDQ is a highly reproducible measure of PD and can be an effective end point in clinical trials evaluating treatments for PD.
Small stable RNA maturation and turnover in Bacillus subtilis
Authors: Gilet Laetitia , DiChiara Jeanne M. , Figaro Sabine , Bechhofer David H. , Condon Ciarán 
Published: November 2014

SummaryStable RNA maturation is a key process in the generation of functional RNAs, and failure to correctly process these RNAs can lead to their elimination through quality control mechanisms. Studies of the maturation pathways of ribosomal RNA and transfer RNA in Bacillus subtilis showed they were radically different from Escherichia coli and led to the identification of new B. subtilis‐specific enzymes. We noticed that, despite their important roles in translation, a number of B. subtilis small stable RNAs still did not have characterised maturation pathways, notably the tmRNA, involved in ribosome rescue, and the RNase P RNA, involved in tRNA maturation. Here, we show that tmRNA is matured by RNase P and RNase Z at its 5′ and 3′ extremities, respectively, whereas the RNase P RNA is matured on its 3′ side by RNase Y. Recent evidence that several RNases are not essential in B. subtilis prompted us to revisit maturation of the scRNA, a component of the signal recognition particle involved in co‐translational insertion of specific proteins into the membrane. We show that RNase Y is also involved in 3′ processing of scRNA. Lastly, we identified some of the enzymes involved in the turnover of these three stable RNAs.
Heritability and molecular genetic basis of electrodermal activity: A genome‐wide association study
Authors: Vaidyanathan Uma , Isen Joshua D. , Malone Stephen M. , Miller Michael B. , McGue Matt , Iacono William G. 
Published: November 2014

AbstractThe molecular genetic basis of electrodermal activity (EDA) was analyzed using 527,829 single nucleotide polymorphisms (SNPs) in a large population‐representative sample of twins and parents (N = 4,424) in relation to various EDA indices. Biometric analyses suggested that approximately 50% or more of variance in all EDA indices was heritable. The combined effect of all SNPs together accounted for a significant amount of variance in each index, affirming their polygenic basis and heritability. However, none of the SNPs were genome‐wide significant for any EDA index. Previously reported SNP associations with disorders such as substance dependence or schizophrenia, which have been linked to EDA abnormalities, were not significant; nor were associations between EDA and genes in specific neurotransmitter systems. These results suggest that EDA is influenced by multiple genes rather than by polymorphisms with large effects.
Genetic associations of nonsynonymous exonic variants with psychophysiological endophenotypes
Authors: Vrieze Scott I. , Malone Stephen M. , Pankratz Nathan , Vaidyanathan Uma , Miller Michael B. , Kang Hyun Min , McGue Matt , Abecasis Gonçalo , Iacono William G. 
Published: November 2014

AbstractWe mapped ∼85,000 rare nonsynonymous exonic single nucleotide polymorphisms (SNPs) to 17 psychophysiological endophenotypes in 4,905 individuals, including antisaccade eye movements, resting EEG, P300 amplitude, electrodermal activity, affect‐modulated startle eye blink. Nonsynonymous SNPs are predicted to directly change or disrupt proteins encoded by genes and are expected to have significant biological consequences. Most such variants are rare, and new technologies can efficiently assay them on a large scale. We assayed 247,870 mostly rare SNPs on an Illumina exome array. Approximately 85,000 of the SNPs were polymorphic, rare (MAF < .05), and nonsynonymous. Single variant association tests identified a SNP in the PARD3 gene associated with theta resting EEG power. The sequence kernel association test, a gene‐based test, identified a gene PNPLA7 associated with pleasant difference startle, the difference in startle magnitude between pleasant and neutral images. No other single nonsynonymous variant, or gene‐based group of variants, was strongly associated with any endophenotype.
In search of rare variants: Preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes
Authors: Vrieze Scott I. , Malone Stephen M. , Vaidyanathan Uma , Kwong Alan , Kang Hyun Min , Zhan Xiaowei , Flickinger Matthew , Irons Daniel , Jun Goo , Locke Adam E. , Pistis Giorgio , Porcu Eleonora , Levy Shawn , Myers Richard M. , Oetting William , McGue Matt , Abecasis Goncalo , Iacono William G. 
Published: November 2014

AbstractWhole genome sequencing was completed on 1,325 individuals from 602 families, identifying 27 million autosomal variants. Genetic association tests were conducted for those individuals who had been assessed for one or more of 17 endophenotypes (N range = 802–1,185). No significant associations were found. These 27 million variants were then imputed into the full sample of individuals with psychophysiological data (N range = 3,088–4,469) and again tested for associations with the 17 endophenotypes. No association was significant. Using a gene‐based variable threshold burden test of nonsynonymous variants, we obtained five significant associations. These findings are preliminary and call for additional analysis of this rich sample. We argue that larger samples, alternative study designs, and additional bioinformatics approaches will be necessary to discover associations between these endophenotypes and genomic variation.
Are we doing enough to extract genomic information from our data?
Authors: Schumann Gunter 
Published: November 2014

AbstractGenome‐wide studies have been successful in identifying stable associations of single genes, albeit at the price of a high false negative rate. The promise of endophenotypes to increase power of genome‐wide association studies has only been partially fulfilled. To optimize the investigation of genetic influences on behavioral (endo‐)phenotypes, the development of novel phenotypical characterizations and methods to describe the relation between genotype and phenotype are needed. This will require the development of innovative analytical strategies, as well as corroborative approaches linking association studies with functional characterizations. The sole reliance on canonical genome‐wide significance thresholds is not sufficient to describe the complex relation of genotype and phenotype.
Knowns and unknowns for psychophysiological endophenotypes: Integration and response to commentaries
Authors: Iacono William G. , Vaidyanathan Uma , Vrieze Scott I. , Malone Stephen M. 
Published: November 2014

AbstractWe review and summarize seven molecular genetic studies of 17 psychophysiological endophenotypes that comprise this special issue of Psychophysiology, address criticisms raised in accompanying Perspective and Commentary pieces, and offer suggestions for future research. Endophenotypes are polygenic, and possibly influenced by rare genetic variants. Because they are not simpler genetically than clinical phenotypes, they are unlikely to assist gene discovery for psychiatric disorder. Once genetic variants for clinical phenotypes are identified, associated endophenotypes are likely to provide valuable insights into the psychological and neural mechanisms important to disorder pathology. This special issue provides a foundation for informed future steps in endophenotype genetics, including the formation of large sample consortia capable of fleshing out the many genetic variants contributing to individual differences in psychophysiological measures.
Recent Trends in Survival From Out-of-Hospital Cardiac Arrest in the United States
Authors: Chan Paul S. , McNally Bryan , Tang Fengming , Kellermann Arthur 
Published: November 2014

Background—
Despite intensive efforts over many years, the United States has made limited progress in improving rates of survival from out-of-hospital cardiac arrest. Recently, national organizations, such as the American Heart Association, have focused on promoting bystander cardiopulmonary resuscitation, use of automated external defibrillators, and other performance improvement efforts.

Methods and Results—

Using the Cardiac Arrest Registry to Enhance Survival (CARES), a prospective clinical registry, we identified 70 027 U.S. patients who experienced an out-of-hospital cardiac arrest between October 2005 and December 2012. Using multilevel Poisson regression, we examined temporal trends in risk-adjusted survival. After adjusting for patient and cardiac arrest characteristics, risk-adjusted rates of out-of-hospital cardiac arrest survival increased from 5.7% in the reference period of 2005 to 2006 to 7.2% in 2008 (adjusted risk ratio, 1.27; 95% confidence interval, 1.12–1.43;
P
<0.001). Survival improved more modestly to 8.3% in 2012 (adjusted risk ratio, 1.47; 95% confidence interval, 1.26–1.70;
P
<0.001). This improvement in survival occurred in both shockable and nonshockable arrest rhythms (
P
for interaction=0.22) and was also accompanied by better neurological outcomes among survivors (
P
for trend=0.01). Improved survival was attributable to both higher rates of prehospital survival, where risk-adjusted rates increased from 14.3% in 2005 to 2006 to 20.8% in 2012 (
P
for trend<0.001), and in-hospital survival (
P
for trend=0.015). Rates of bystander cardiopulmonary resuscitation and automated external defibrillator use modestly increased during the study period and partly accounted for prehospital survival trends.

Conclusions—
Data drawn from a large subset of U.S communities suggest that rates of survival from out-of-hospital cardiac arrest have improved among sites participating in a performance improvement registry.