bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long‐term follow‐up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy
Authors: van der Meijden Jan C. , Kruijshaar Michelle E. , Harlaar Laurike , Rizopoulos Dimitris , van der Beek Nadine A. M. E. , van der Ploeg Ans T. 
Published: March 2018

AbstractObjectivesPompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic‐infantile patients and in adults, little has been published on ERT in children with non‐classic presentations.Study designThis prospective study was conducted from June 1999 to May 2015. Seventeen patients from various countries participated. Outcome measures comprised muscle function (6‐minute walk test, quick motor‐function test (QMFT)), muscle strength (hand‐held dynamometry; manual muscle testing), and lung function (FVC sitting and supine). For each outcome measure, we used linear mixed‐effects models to calculate the difference at group level between the start of therapy and 7 years of ERT. Patients’ individual responses over time were also evaluated.ResultsEleven males and six females started ERT at ages between 1.1 and 16.4 years (median 11.9 years); 82% of them carried the common c.‐32‐13T > G GAA gene variant on one allele. At group level, distance walked increased by 7.4 percentage points (p < 0.001) and QMFT scores increased by 9.2 percentage points (p = 0.006). Muscle strength scores seemed to remain stable. Results on lung function were more variable. Patients’ individual data show that the proportion of patients who stabilized or improved during treatment ranged between 56 and 69% for lung function outcomes and between 71 and 93% for muscle strength and muscle function outcomes.ConclusionsWe report a positive effect of ERT in patients with childhood Pompe disease at group level. For some patients, new or personalized treatments should be considered.
The Process of Disclosure: Mothers’ Experiences of Communicating X‐Linked Carrier Risk Information to At‐Risk Daughters
Authors: Goldman Amy , Metcalfe Alison , MacLeod Rhona 
Published: March 2018

AbstractWhen a boy is diagnosed with an X‐linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters. The four key themes that arose are presented: communication process, facilitators of disclosure, barriers to disclosure and support and information. Despite the participants’ endeavours to be open and honest with their daughters and their belief that they had fully disclosed, key information was often withheld. Major barriers to discussion of the future, including reproductive options, were apparent. These were partly overcome by the involvement of genetic counsellors (GCs). The participants suggested a greater involvement of GCs, proactively sending appointments and written information, and offering carrier testing more flexibly.
A Comparison of Two Arthroscopic Techniques for Interpositional Polytetrafluoroethylene Patch Repair for Massive Irreparable Rotator Cuff Tears: Speed and Biomechanics
Authors: Sunwoo Joo Y. , Lam Patrick H. , Murrell George A. C. 
Published: March 2018

Background Interpositional synthetic patch repairs are a novel method of treating massive irreparable rotator cuff tears. However, surgeons experience difficulty in the arthroscopic insertion of these patches. Questions/Purposes We compared two methods of arthroscopic interpositional synthetic patch repair: the newly devised slide-and-grip technique, using pre-loaded sliding knots and no arthroscopic knots, and the weave technique, using less arthroscopic knot tying than the earlier mattress technique. Study questions were as follows: (1) Would the slide-and-grip technique take less time than the weave technique? (2) Would the biomechanical strength of the two methods be comparable? Methods Fourteen paired ovine infraspinatus tendon ex vivo models of the degenerative human rotator cuff underwent timed repair with a synthetic polytetrafluoroethylene (PTFE) patch, using either the weave technique ( n = 7) or the slide-and-grip technique ( n = 7). Each was pulled to failure using a tensile testing machine, the Instron 8874. Results The time to complete the slide-and-grip repairs was shorter (12 ± 0.9 min) than that of the weave repairs (23 ± 1 min). Ultimate load to failure was comparable for the slide-and-grip and weave techniques (211 ± 27 N vs. 295 ± 35 N, respectively), and the slide-and-grip was less stiff (14 ± 1 N/mm vs. 19 ± 1 N/mm). Conclusions The slide-and-grip technique took less time than the weave technique for the interpositional patch repair of massive irreparable rotator cuff tears and when correctly performed had comparable biomechanical strength.
Adolescent psychopathology in Times of Change: The need for integrating a developmental psychopathology perspective
Authors: Shulman Shmuel , Scharf Miri 
Published: March 2018

ABSTRACTIn addition to the major physical, sexual and cognitive changes, as well as changes in relationships with parents and peers, in recent years adolescents also have to cope with many technological changes and increasing societal instabilities. Most of the existing research has examined the extent to which increasing uncertainties might impact expression of psychopathology and its magnitude. Emerging from a developmental psychopathology perspective, we are looking first for a better understanding of the meaning that adolescents give to these changes, which in turn is likely to affect their behavior. We are also looking for better understanding the importance of the role parents, and other societal systems/institutions (such as peers) play in ameliorating or enhancing the likelihood of maladaptive adolescent behavior under these circumstances.
Retrospective Study of the Prevalence and Risk Factors of Clitoral Adhesions: Women's Health Providers Should Routinely Examine the Glans Clitoris
Authors: Aerts Leen , Rubin Rachel S. , Randazzo Michael , Goldstein Sue W. , Goldstein Irwin 
Published: March 2018

AbstractIntroductionThe glans clitoris is covered by a prepuce that normally moves over the glans surface and can be retracted beyond the corona. Clitoral adhesions, ranging from mild to severe, occur when preputial skin adheres to the glans. Physical examination consistent with clitoral adhesions is based on the inability to visualize the entire glans corona. In this closed compartment, the space underneath the adherent prepuce and clitoris can become irritated, erythematous, or infected and can result in sexual dysfunction.AimTo determine the prevalence of clitoral adhesions in a sexual medicine practice and assess risk factors associated with clitoral adhesions.MethodsThis research involved retrospective examinations of vulvoscopy photographs taken from August 2007 to December 2015. Clitoral adhesions were considered absent when preputial retraction enabled full glans corona visualization. The study group consisted of women with mild, moderate, or severe clitoral adhesions based on more than 75%, 25% to 75%, or less than 25% glans clitoris exposure without full corona visualization, respectively. 2 independent reviewers evaluated photographs; a 3rd analyzed study group health record data.Main Outcome MeasurePrevalence of severity of clitoral adhesions.ResultsOf the 1,261 vulvoscopy photographs, 767 (61%) were determined adequate for assessment and 614 photographs represented individual patients. The study group with clitoral adhesions consisted of 140 women (23%) of whom 44%, 34%, and 22% demonstrated mild, moderate, and severe clitoral adhesions, respectively. In the study group, 14% presented with clitorodynia. Risk factors included a history of sexual pain, yeast infection, urinary tract infection, blunt perineal or genital trauma, lichen sclerosus, low calculated free testosterone, and other sexual dysfunctions including persistent genital arousal disorder.ConclusionWomen with sexual dysfunction should routinely undergo clitoral physical examination. If the glans corona is not fully visualized, then clitoral adhesions should be suspected. Education, counseling, and/or referral for sexual pain management should be considered.
Pharmacologic Treatment for Depression at Injury Is Associated With Fewer Clinician Visits for Persistent Symptoms After Mild Traumatic Brain Injury: A Medical Record Review Study
Authors: Kruse Ryan C. , Li Zhuo , Prideaux Cara C. , Brown Allen W. 
Published: March 2018

AbstractBackgroundDepression and traumatic brain injury (TBI) substantially contribute to the U.S. health care burden. Depression is a known risk factor for prolonged recovery after TBI. However, the effect of depression treatment on health care utilization has yet to be studied.ObjectiveTo examine whether an association exists between pharmacologic treatment of depression at the time of mild or concussive TBI and the number of subsequent clinician visits for persistent injury‐related symptoms.DesignRetrospective medical record review.SettingTertiary care medical center.ParticipantsA total of 120 patients (mean age 45.6 years) with a history of depression who subsequently experienced a mild or concussive TBI were included.MethodsIndividuals were identified with co‐occurring diagnoses of depression and mild or concussive TBI by retrospective electronic medical record review. The diagnosis of depression must have preceded the diagnosis of TBI.Main OutcomeThe number of clinician visits for postinjury symptoms were counted at 3, 6, and 12 months postinjury.ResultsClinician visits for persistent injury‐related symptoms were significantly fewer at all 3 time points for the group treated for depression at time of injury.ConclusionsDepressed individuals who were pharmacologically treated for depression at the time of TBI had significantly fewer clinician visits for persistent postinjury symptoms than those not pharmacologically treated for depression at the time of injury. Routine depression screening in patients with a high risk for TBI may identify a mood disorder that could contribute to persistent symptoms if left untreated, with its effective management potentially reducing health‐related costs.Level of EvidenceIII
Diachronic split and phoneme borrowing in Resígaro (Arawakan)
Authors: de Carvalho Fernando O. 
Published: March 2018

AbstractThis paper examines a previously identified but so far imprecisely defined split in the historical phonology of Resígaro (Arawakan). I argue that this development was a simple case of allophonic redistribution or primary split, in which word-final allophones of*amerged withɯ. However, comparative data offers no evidence for the existence ofɯbefore the operation of the split in question. This apparent paradox can be resolved by the plausible hypothesis thatɯentered the language via the massive influx of morphemes from Bora, an unrelated language of the Bora-Muinane family. Only after that were some contextual allophones of*amerged withɯ. This is the first solidly justified case of loan phonology in Resígaro and it provides further support to the hypothesis that Bora influence on Resígaro is not a result of the language's obsolescent status.
The Gillette Stadium Experience: A Retrospective Review of Mass Gathering Events From 2010 to 2015
Authors: Goldberg Scott A. , Maggin Jeremy , Molloy Michael S. , Baker Olesya , Sarin Ritu , Kelleher Michael , Mont Kevin , Fajana Adedeji , Goralnick Eric 
Published: March 2018

AbstractObjectiveMass gathering events can substantially impact public safety. Analyzing patient presentation and transport rates at various mass gathering events can help inform staffing models and improve preparedness.MethodsA retrospective review of all patients seeking medical attention across a variety of event types at a single venue with a capacity of 68,756 from January 2010 through September 2015.ResultsWe examined 232 events with a total of 8,260,349 attendees generating 8157 medical contacts. Rates were 10 presentations and 1.6 transports per 10,000 attendees with a non-significant trend towards increased rates in postseason National Football League games. Concerts had significantly higher rates of presentation and transport than all other event types. Presenting concern varied significantly by event type and gender, and transport rate increased predictably with age. For cold weather events, transport rates increased at colder temperatures. Overall, on-site physicians did not impact rates.ConclusionsAt a single venue hosting a variety of events across a 6-year period, we demonstrated significant variations in presentation and transport rates. Weather, gender, event type, and age all play important roles. Our analysis, while representative only of our specific venue, may be useful in developing response plans and staffing models for similar mass gathering venues. (Disaster Med Public Health Preparedness. 2018;12:752-758).
Authentic leadership outcomes in detail-oriented occupations: Commitment, role-stress, and intentions to leave
Authors: Kalay Elad , Brender-Ilan Yael , Kantor Jeffrey 
Published: March 2018

AbstractIn recent years there has been a growing scholarly interest in authentic leadership, a leadership style that fosters positive psychological capacities and a positive ethical climate. This study focuses on the Certified Public Accounting profession, which is known as a detail-oriented occupation. We examined if Certified Public Accounting managers exhibiting an authentic leadership style were capable of strengthening the commitment of their subordinates and, at the same time, reducing role-stress and intentions to leave. The hypotheses were tested on a sample of 512 Certified Public Accountings in Israel using structural equation modeling. Results revealed that perceived authentic leadership was negatively related to role-conflicts and role-ambiguity, directly and through the mediation of affective commitment. In addition, the negative correlation between authentic leadership and intention to leave was fully mediated by affective commitment. Limitation and applications for organizations are discussed.
Statistical summer mass-balance forecast model with application to Brúarjökull glacier, South East Iceland
Authors: EYTHORSSON DARRI , GARDARSSON SIGURDUR M. , GUNNARSSON ANDRI , HRAFNKELSSON BIRGIR 
Published: March 2018

ABSTRACTForecasting of glacier mass balance is important for optimal management of hydrological resources, especially where glacial meltwater constitutes a significant portion of stream flow, as is the case for many rivers in Iceland. In this study, a method was developed and applied to forecast the summer mass balance of Brúarjökull glacier in southeast Iceland. In the present study, many variables measured in the basin were evaluated, including glaciological snow accumulation data, various climate indices and meteorological measurements including temperature, humidity and radiation. The most relevant single predictor variables were selected using correlation analysis. The selected variables were used to define a set of potential multivariate linear regression models that were optimized by selecting an ensemble of plausible models showing good fit to calibration data. A mass-balance estimate was calculated as a uniform average across ensemble predictions. The method was evaluated using fivefold cross-validation and the statistical metrics Nash–Sutcliffe efficiency, the ratio of the root mean square error to the std dev. and percent bias. The results showed that the model produces satisfactory predictions when forced with initial condition data available at the beginning of the summer melt season, between 15 June and 1 July, whereas less reliable predictions are produced for longer lead times.
‘A Wicked Operation’? Tonsillectomy in Twentieth-Century Britain
Authors: Dwyer-Hemmings Louis 
Published: March 2018

Histories of twentieth-century surgery have focused on surgical ‘firsts’ – dramatic tales of revolutionary procedures. The history of tonsillectomy is less glamorous, but more widespread, representing the experience and understanding of medicine for hundreds of children, parents and surgeons daily. At the start of the twentieth century, tonsillectomy was routine – performed on at least 80 000 schoolchildren each year in Britain. However, by the 1980s, public and professional discourse condemned the operation as a ‘dangerous fad’. This profound shift in the medical, political and social position of tonsillectomy rested upon several factors: changes in the organisation of medical institutions and national health care; changes in medical technologies and the criteria by which they are judged; the political, cultural and economic context of Britain; and the social role of the patient. Tonsillectomy was not a mere passive subject of external influences, but became a potent concept in medical, political, and social discourse. Therefore, it reciprocally influenced these discourses and subsequently the development of twentieth-century British medicine. These complex interactions between ‘medical’ and ‘non-medical’ spheres question the possibility of demarcating what is internal from what is external to medicine.
Dietary cost associated with adherence to the Mediterranean diet, and its variation by socio-economic factors in the UK Fenland Study
Authors: Tong Tammy Y. N. , Imamura Fumiaki , Monsivais Pablo , Brage Søren , Griffin Simon J. , Wareham Nicholas J. , Forouhi Nita G. 
Published: March 2018

AbstractHigh cost of healthy foods could be a barrier to healthy eating. We aimed to examine the association between dietary cost and adherence to the Mediterranean diet in a non-Mediterranean country. We evaluated cross-sectional data from 12 417 adults in the UK Fenland Study. Responses to 130-item FFQ were used to calculate a Mediterranean diet score (MDS). Dietary cost was estimated by matching food consumption data with retail prices of five major supermarkets. Using multivariable-adjusted linear regression, we examined the association of MDS and individual foods with dietary cost in absolute and relative scales. Subsequently, we assessed how much the association was explained by education, income, marital status and occupation, by conducting mediation analysis and testing interaction by these variables. High compared with low MDS (top to bottom third) was associated with marginally higher cost by 5·4 % (95 % CI 4·4, 6·4) or £0·20/d (95 % CI 0·16, 0·25). Participants with high adherence had higher cost associated with the healthier components (e.g. vegetables, fruits and fish), and lower cost associated with the unhealthy components (e.g. red meat, processed meat and sweets) (Pfor trend<0·001 each). In total, 20·7 % (95 % CI 14·3, 27·0) of the MDS-cost association was explained by the selected socio-economic factors, and the MDS-cost association was of greater magnitude in lower socio-economic groups (Pinteraction<0·005). Overall, greater adherence to the Mediterranean diet was associated with marginally higher dietary cost, partly modified and explained by socio-economic status, but the potential economic barriers of high adherence might be offset by cost saving from reducing unhealthy food consumption.
Nitrate supplementation improves physical performance specifically in non-athletes during prolonged open-ended tests: a systematic review and meta-analysis
Authors: Campos Helton O. , Drummond Lucas R. , Rodrigues Quezia T. , Machado Frederico S. M. , Pires Washington , Wanner Samuel P. , Coimbra Cândido C. 
Published: March 2018

AbstractNitrate (NO3−) is an ergogenic nutritional supplement that is widely used to improve physical performance. However, the effectiveness of NO3− supplementation has not been systematically investigated in individuals with different physical fitness levels. The present study analysed whether different fitness levels (non-athletes v. athletes or classification of performance levels), duration of the test used to measure performance (short v. long duration) and the test protocol (time trials v. open-ended tests v. graded-exercise tests) influence the effects of NO3− supplementation on performance. This systematic review and meta-analysis was conducted and reported according to the guidelines outlined in the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) statement. A systematic search of electronic databases, including PubMed, Web of Science, SPORTDiscus and ProQuest, was performed in August 2017. On the basis of the search and inclusion criteria, fifty-four and fifty-three placebo-controlled studies evaluating the effects of NO3− supplementation on performance in humans were included in the systematic review and meta-analysis, respectively. NO3− supplementation was ergogenic in non-athletes (mean effect size (ES) 0·25; 95 % CI 0·11, 0·38), particularly in evaluations of performance using long-duration open-ended tests (ES 0·47; 95 % CI 0·23, 0·71). In contrast, NO3− supplementation did not enhance the performance of athletes (ES 0·04; 95 % CI −0·05, 0·15). After objectively classifying the participants into different performance levels, the frequency of trials showing ergogenic effects in individuals classified at lower levels was higher than that in individuals classified at higher levels. Thus, the present study indicates that dietary NO3− supplementation improves physical performance in non-athletes, particularly during long-duration open-ended tests.
A novel body circumferences-based estimation of percentage body fat
Authors: Lahav Yair , Epstein Yoram , Kedem Ron , Schermann Haggai 
Published: March 2018

AbstractAnthropometric measures of body composition are often used for rapid and cost-effective estimation of percentage body fat (%BF) in field research, serial measurements and screening. Our aim was to develop a validated estimate of %BF for the general population, based on simple body circumferences measures. The study cohort consisted of two consecutive samples of health club members, designated as ‘development’ (n476, 61 % men, 39 % women) and ‘validation’ (n224, 50 % men, 50 % women) groups. All subjects underwent anthropometric measurements as part of their registration to a health club. Dual-energy X-ray absorptiometry (DEXA) scan was used as the ‘gold standard’ estimate of %BF. Linear regressions where used to construct the predictive equation (%BFcal). Bland–Altman statistics, Lin concordance coefficients and percentage of subjects falling within 5 % of %BF estimate by DEXA were used to evaluate accuracy and precision of the equation. The variance inflation factor was used to check multicollinearity. Two distinct equations were developed for men and women: %BFcal(men)=10·1−0·239H+0·8A−0·5N; %BFcal(women)=19·2−0·239H+0·8A−0·5N(H, height;A, abdomen;N, neck, all in cm). Bland–Altman differences were randomly distributed and showed no fixed bias. Lin concordance coefficients of %BFcalwere 0·89 in men and 0·86 in women. About 79·5 % of %BF predictions in both sexes were within ±5 % of the DEXA value. The Durnin–Womersley skinfolds equation was less accurate in our study group for prediction of %BF than %BFcal. We conclude that %BFcaloffers the advantage of obtaining a reliable estimate of %BF from simple measurements that require no sophisticated tools and only a minimal prior training and experience.