bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Authors: Rydning S. L. , Dudesek A. , Rimmele F. , Funke C. , Krüger S. , Biskup S. , Vigeland M. D. , Hjorthaug H. S. , Sejersted Y. , Tallaksen C. , Selmer K. K. , Kamm C. 
Published: March 2018

Background and purposeHereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous monogenic disorders. To date, nearly 70 genes are known to be causative. The aim of this project was to identify the genetic cause of autosomal dominantly inherited pure HSP in two large, unrelated non‐consanguineous families.MethodsThe two families were characterized clinically and selected members underwent whole exome sequencing. Potentially disease‐causing variants were confirmed by Sanger sequencing and their functional consequences on protein function were predicted by bioinformatic prediction tools.ResultsThe patients presented with pure spastic paraplegia with age of onset between 9 and 46 years. In both families, a novel heterozygous missense variant in ERLIN2, c.386G>C; p.Ser129Thr, was the only potentially pathogenic variant identified that segregated with the disease.ConclusionsBiallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant are described. These findings expand the mutational and inheritance spectrum of SPG18. ERLIN2 variants should also be considered in the diagnostic evaluation of patients with autosomal dominant HSP.
Automated trajectory planning for laser interstitial thermal therapy in mesial temporal lobe epilepsy
Authors: Vakharia Vejay N. , Sparks Rachel , Li Kuo , O'Keeffe Aidan G. , Miserocchi Anna , McEvoy Andrew W. , Sperling Michael R. , Sharan Ashwini , Ourselin Sebastien , Duncan John S. , Wu Chengyuan 
Published: March 2018

SummaryObjectiveSurgical resection of the mesial temporal structures brings seizure remission in 65% of individuals with drug‐resistant mesial temporal lobe epilepsy (MTLE). Laser interstitial thermal therapy (LiTT) is a novel therapy that may provide a minimally invasive means of ablating the mesial temporal structures with similar outcomes, while minimizing damage to the neocortex. Systematic trajectory planning helps ensure safety and optimal seizure freedom through adequate ablation of the amygdalohippocampal complex (AHC). Previous studies have highlighted the relationship between the residual unablated mesial hippocampal head and failure to achieve seizure freedom. We aim to implement computer‐assisted planning (CAP) to improve the ablation volume and safety of LiTT trajectories.MethodsTwenty‐five patients who had previously undergone LiTT for MTLE were studied retrospectively. The EpiNav platform was used to automatically generate an optimal ablation trajectory, which was compared with the previous manually planned and implemented trajectory. Expected ablation volumes and safety profiles of each trajectory were modeled. The implemented laser trajectory and achieved ablation of mesial temporal lobe structures were quantified and correlated with seizure outcome.ResultsCAP automatically generated feasible trajectories with reduced overall risk metrics (P < .001) and intracerebral length (P = .007). There was a significant correlation between the actual and retrospective CAP‐anticipated ablation volumes, supporting a 15 mm diameter ablation zone model (P < .001). CAP trajectories would have provided significantly greater ablation of the amygdala (P = .0004) and AHC (P = .008), resulting in less residual unablated mesial hippocampal head (P = .001), and reduced ablation of the parahippocampal gyrus (P = .02).SignificanceCompared to manually planned trajectories CAP provides a better safety profile, with potentially improved seizure‐free outcome and reduced neuropsychological deficits, following LiTT for MTLE.
Effect of hydroxypropyl methylcellulose, whey protein concentrate and soy protein isolate enrichment on characteristics of gluten‐free rice dough and bread
Authors: Srikanlaya Chonnikarn , Therdthai Nantawan , Ritthiruangdej Pitiporn , Zhou Weibiao 
Published: March 2018

SummaryDue to a lack of gluten, rice dough needed some additives to improve its properties. This study aimed to investigate effect of hydroxypropyl methylcellulose (HPMC), whey protein concentrate (WPC) and soy protein isolate (SPI) on rice dough and bread. HPMC increased water absorption of the rice dough (P ≤ 0.05). Adding SPI (2–4 g per 100 g flour) together with HPMC tended to increase stability time and reduce tolerance index. During fermentation, HPMC increased maximum dough height, while SPI increased final dough height (P ≤ 0.05). All addition improved tan δ (G″/G′) to be comparable to the wheat dough, but it could not improve gas production and retention. Therefore, specific volume, springiness, cohesiveness and chewiness of rice bread were lower than those of wheat bread (P ≤ 0.05). Percentage of small pores in rice bread was reduced to be comparable to wheat bread, by adding WPC. All addition could improve porosity of the rice bread.
How did I not see that? Perspectives of nonconsumer mental health researchers on the benefits of collaborative research with consumers
Authors: Happell Brenda , Gordon Sarah , Bocking Julia , Ellis Pete , Roper Cath , Liggins Jackie , Platania‐Phung Chris , Scholz Brett 
Published: March 2018

AbstractCoproduction of research between consumers of mental health services and nonconsumer mental health researchers is increasing. There is some research available describing consumer perspectives of this experience. However, there is a notable lack of research on other (nonconsumer) researcher experiences of and views about consumer involvement in coproduced research. A qualitative exploratory study was undertaken to examine perspectives of mental health researchers about consumer involvement in research. In‐depth individual interviews were undertaken with 11 nonconsumer mental health researchers in Australia and New Zealand. Interview transcripts were analysed to identify major themes. There were three interacting themes: the salience of experiential difference, expanded learning, and enhanced research. The dynamic between different perspectives and learning had the effect of enhancing research across the spectrum of study phases and in ensuring research was of value to different groups. The findings emphasize the important contribution consumer researchers can make to mental health research by bringing their unique perspective and enhancing an environment of mutual learning. Findings also point to the need for foregrounding the numerous benefits of joint research between consumer and other researchers to enhance and improve clinical practice and the development of policy.
Oral health self‐perception, dental caries, and pain: the role of dental fear underlying this association
Authors: Goettems Marília Leão , Shqair Ayah Qassem , Bergmann Veridiana Fischer , Cadermatori Mariana Gonzalez , Correa Marcos Britto , Demarco Flávio Fernando 
Published: March 2018

BackgroundOral health perception has multidimensional nature and can be influenced not only by clinical conditions but also by psychosocial characteristics.HypothesisDental fear could modify the association between dental caries and dental pain and the perception of negative impact.DesignA cross‐sectional study was conducted with (n = 1,196) children aged 8–12 years attending public and private schools in Pelotas/Brazil. Children were interviewed and examined. Oral health perception was assessed using a global oral health impact item. Crude and adjusted multivariable regression models were built and effect modification of dental fear in the association between clinical indicators and perception of impact was tested.ResultsCompared with children without fear and caries, children with fear and dental caries presented a 1.45 higher prevalence of negative impact (95% CI: 1.18–1.79) while those without fear and with dental caries had a 1.31 higher prevalence (95% CI: 1.11–1.54) after adjustments. Also, the prevalence of negative perception was higher for children with fear and dental pain (PR: 2.95; 95% CI: 1.59–2.39) and for children without fear and with pain (PR: 1.53; 95% CI: 1.29–1.80), compared to children without fear and pain.ConclusionThe presence of fear increased the effect of pain and caries on children's oral health perception.
Predatory behavior of giant Antarctic sea spiders (Colossendeis) in nearshore environments
Authors: Moran Amy L. , Woods H. Arthur , Shishido Caitlin M. , Lane Steven J. , Tobalske Bret W. 
Published: March 2018

AbstractPycnogonids in the genus Colossendeis are found in the deep sea and Southern Ocean. Although the genus contains the largest and most conspicuous species of sea spiders, little is known about their ecology or behavior. We documented two species feeding on a variety of benthic and pelagic invertebrates during three diving field seasons at McMurdo Station, Antarctica. Individuals of one species, Colossendeis megalonyx, fed on a variety of pelagic organisms, particularly the pteropod Clione antarctica. We used video to document rapid capture of individuals of C. antarctica by captive specimens of C. megalonyx in the laboratory, and we suggest that, at least in the nearshore environment, pelagic invertebrates are an important food source for this and potentially other pycnogonid species.
Closed‐incision negative pressure therapy to reduce groin wound infections in vascular surgery: a randomised controlled trial
Authors: Engelhardt Michael , Rashad Norah A , Willy Christian , Müller Christian , Bauer Christian , Debus Sebastian , Beck Tino 
Published: March 2018

AbstractGroin wound infections pose a major problem in vascular surgery. Closed‐incision negative pressure therapy (ciNPT) was especially designed for the management of incisions at risk of surgical site infections. The aim of this study was to investigate whether ciNPT is able to reduce the incidence of wound infections after vascular surgery.Data on 132 consecutive patients, scheduled for vascular surgery with a longitudinal femoral cutdown, were collected prospectively. All patients were randomised either to the ciNPT group (n = 64) or the control group (n = 68) with conventional dressing. In the ciNPT group, the foam dressing was applied intraoperatively and removed after 5 days. The control group received an absorbent dressing. All wounds were evaluated after 5 and 42 days. Infections were graded according the Szilagyi classification (I–III°).There were no significant differences between both groups considering patient characteristics. Indications for surgery were peripheral arterial disease in 95% (125/132) and aneurysm in 5% (7/132). The overall infection rates were 14% (9/64) in the ciNPT group and 28% (19/68) in the control group (P = 0·055). Early infections were observed in 6% (4/64) of the ciNPT group and 15% (10/68) of the control group (P = 0·125). ciNPT did not reduce infection rates associated with different risk factors for infection.While the experiences with the ciNPT device were encouraging, the study fails to provide evidence of the efficacy of the device to reduce groin wound infections after vascular surgery. It illustrates far more that larger multicentre studies are required and appear promising to provide further evidence for the use of ciNPT.
LABOR LAWS AND FIRM PERFORMANCE
Authors: Marciukaityte Dalia 
Published: March 2018

AbstractU.S. labor laws impose higher costs on unionized firms in states without right‐to‐work (RTW) laws. I find that these firms experience poor stock performance. The difference‐in‐differences analysis comparing the effect of RTW laws on unionized and nonunionized firms shows that unionized firms in states without RTW laws underperform by about 7 percentage points per year. I find further evidence of underperformance using alternative methods to estimate abnormal stock performance, examining a natural experiment, showing expected cross‐sectional patterns, and assessing profitability and the market reaction to earnings announcements.
Expanding Home‐Based Primary Care to American Indian Reservations and Other Rural Communities: An Observational Study
Authors: Kramer B. Josea , Creekmur Beth , Mitchell Michael N. , Saliba Debra 
Published: March 2018

Background/ObjectivesHome‐based primary care (HBPC) is a comprehensive, interdisciplinary program to meet the medical needs of community‐dwelling populations needing long‐term care (LTC). The U.S. Department of Veterans Affairs (VA) expanded its HBPC program to underserved rural communities, including American Indian reservations, providing a “natural laboratory” to study change in access to VA LTC benefits and utilization outcomes for rural populations that typically face challenges in accessing LTC medical support.DesignPretest‐Posttest quasi‐experimental approach with interrupted time‐series design using linked VA, Medicare, and Indian Health Service (IHS) records.SettingAmerican Indian reservations and non‐Indian communities in rural HBPC catchment areas.Participants376 veterans (88 IHS beneficiaries, 288 non‐IHS beneficiaries) with a HBPC length of stay of 12 months or longer.MeasurementsBaseline demographic and health characteristics, activities of daily living (ADL), previous VA enrollment, and hospital admissions and emergency department (ED) visits as a function of time, accounting for IHS beneficiary and functional statuses.ResultsFor HBPC users, VA enrollment increased by 22%. At baseline, 30% of IHS and non‐IHS beneficiaries had 2 or more ADLs impairments; IHS populations were younger (P < .001) and had more diagnosed chronic diseases (P = .007). Overall, hospital admissions decreased by 0.10 (95% confidence interval (CI) = −0.14 to −0.05) and ED visits decreased by 0.13 (95% CI = −0.19 to −0.07) in the 90 days after HBPC admission (Ps < .001) and these decreases were maintained over 1 year follow‐up. Before HBPC, probability of hospital admission was 12% lower for IHS than non‐IHS beneficiaries (P = .02).ConclusionIntroducing HBPC to rural areas increased access to LTC and enrollment for healthcare benefits, with equitable outcomes in IHS and non‐IHS populations.
Can you score with balloons to enhance outcomes after drug coated balloon angioplasty? Insights from the Paris DCB Registry for in‐stent restenosis
Authors: Merat Benoît , Waliszewski Matthias , Dillinger Guillaume , Henry Patrick , Sideris Georgios 
Published: March 2018

ObjectivesThe objective of this study was to assess the 12‐month clinical outcomes in patients with drug‐eluting stent in‐stent restenosis (DES‐ISR) who were either pre‐dilated with non‐compliant balloons (NCBA) and with additional scoring balloons (NCBA + SBA) prior to drug coated balloon (DCB) angioplasty.MethodsThis monocentric, retrospective study included patients with DES‐ISR who were routinely treated over a 2‐year time span. Patients with stable angina and documented ischemia or selected forms of unstable angina due to a culprit DES‐ISR lesion were analyzed. The primary endpoint was the clinically driven target‐lesion revascularization (TLR) rate at 12 months. Secondary endpoints included post‐interventional lumen gain and late lumen loss (LLL) at 6 months.ResultsThe 12‐month TLR rates in 124 patients who underwent either NCBA + SBA or NCBA only group were not different (17.3%, 9/52 vs 11.6%, 8/69, P = 0.371) and low as compared to other comparable studies. The use of SBA led to equally high post minimal lumen diameters (MLD) in both treatment arms (NCBA 2.21 ± 0.33 vs NCBA + SBA 2.18 ± 0.41, P = 0.868). We did not find a significant difference in late lumen loss (LLL) between both groups (0.50 ± 0.62 mm vs 0.40 ± 0.46 mm, P = 0.468).ConclusionsScoring Balloon Angioplasty can safely and effectively prepare DES‐ISR lesions to render them suitable for DCB angioplasty with acceptable TLR and MACE rates.
Use of autobilevel ventilation in patients with obstructive sleep apnea: An observational study
Authors: Baiamonte Pierpaolo , Mazzuca Emilia , Gruttad'Auria Claudia I. , Castrogiovanni Alessandra , Marino Claudia , Lo Nardo Davide , Basile Marco , Algeri Margherita , Battaglia Salvatore , Marrone Oreste , Gagliardo Andrea , Bonsignore Maria R. 
Published: March 2018

SummaryContinuous positive airway pressure (CPAP) is the first‐choice treatment for obstructive sleep‐disordered breathing. Automatic bilevel ventilation can be used to treat obstructive sleep‐disordered breathing when CPAP is ineffective, but clinical experience is still limited. To assess the outcome of titration with CPAP and automatic bilevel ventilation, the charts of 356 outpatients (obstructive sleep apnea, n = 242; chronic obstructive pulmonary disease + obstructive sleep apnea overlap, n = 80; obesity hypoventilation syndrome [OHS], n = 34; 103 females) treated for obstructive sleep‐disordered breathing from January 2014 to April 2017 were reviewed. Positive airway pressure titration was considered successful in the case of sleep‐disordered breathing resolution (apnea–hypopnea index <10/hr) with cumulative time at SaO2 < 90% (CT90%) <10% and/or improved daytime arterial blood gases at the end of titration. CPAP was effective in 268 patients (75.0%). CPAP treatment failure (n = 88) occurred in 13.6% of obstructive sleep apnea, 32.5% of overlap, and 85.3% of OHS patients. Compared with successful CPAP cases, patients undergoing the automatic bilevel ventilation trial showed higher body mass index (39.3 ± 10.5 kg/m2 versus 34.8 ± 6.9 kg/m2, p < 0.0001), worse mean nocturnal SaO2 (89.2 ± 4.0% versus 91.3 ± 4.0%, p < 0.003) and CT90% (40.6 ± 28.6% versus 24.0 ± 23.3%), but similar age (62.8 ± 11.9 years versus 60.5 ± 12.0 years, p = 0.11), apnea–hypopnea index (39.4 ± 23.2/hr versus 41.0 ± 21.2/hr, p = 0.55) and oxygen desaturation index (37.8 ± 23.5/hr versus 39.2 ± 21.1/hr, p = 0.61) at diagnosis. Automatic bilevel ventilation was successful in 79.5% of CPAP treatment failures (n = 70). Automatic bilevel ventilation failure was independently associated with baseline body mass index >40 kg/m2 (odds ratio 6.16, confidence interval 1.50–25.17, p = 0.011) and CT90% >42% (odds ratio 5.87, confidence interval 1.39–24.83, p = 0.016). During follow‐up, automatic bilevel ventilation treatment failed in seven patients (10%), and compliance was similar in CPAP (4.5 ± 2.2 hr) and automatic bilevel ventilation (5.2 ± 2.3 hr, p = 0.09) groups. Automatic bilevel ventilation was useful to treat sleep‐disordered breathing, but failed in patients with severe OHS.
Associations between self‐reported sleep measures and dietary behaviours in a large sample of Australian school students (n = 28,010)
Authors: Agostini Alex , Lushington Kurt , Kohler Mark , Dorrian Jillian 
Published: March 2018

SummaryThis study examined the associations between self‐reported sleep timing and quality, and the frequency of breakfast and junk food consumption in 28,010 Australian school students (mean ± SD age = 13.3 ± 1.2 years, 51% male). After controlling for age, sex and socioeconomic status, regression analyses revealed that the odds of missing breakfast were significantly higher in children who reported poor sleep or later bedtimes, while the odds of junk food consumption were significantly higher in children reporting later weeknight bedtimes (p < 0.001). These findings suggest that sleep timing and quality influence the dietary choices of adolescents.
Disturbed sleep and activity in toddlers with early signs of attention deficit hyperactivity disorder (ADHD)
Authors: Bundgaard Anne‐Katrine F. , Asmussen Jette , Pedersen Nadia S. , Bilenberg Niels 
Published: March 2018

SummaryThis study investigated whether early signs of attention deficit hyperactivity disorder (ADHD) in toddlers aged 2–3 years are associated with disturbed sleep and activity levels. Participants were recruited from the Odense Child Cohort, and children scoring above the 93rd percentile on the ADHD scale of the Child Behaviour Checklist 1½–5 were categorised as cases and compared with age‐ and gender‐matched normal‐scoring controls. Daytime and nocturnal activity for 24 children with ADHD traits (cases) and 25 healthy controls was assessed through 7 days of actigraphy, and parents completed the Children's Sleep Habits Questionnaire (CSHQ) and the ADHD Rating Scale IV Preschool Version (ADHD‐RS). Cases differed significantly on actigraphic parameters by having fewer minutes of moderate‐to‐vigorous physical activity (MVPA), prolonged total sleep time, fewer sleep interruptions, and increased night‐to‐night variability. A significant association was found between fewer minutes of MVPA and higher parent‐reported motor activity on the ADHD‐RS. Furthermore, increased night‐to‐night variability was significantly associated with higher total scores on both CSHQ and ADHD‐RS. The findings show that early signs of ADHD are associated with an irregular sleep pattern and lower daytime activity, as illustrated by actigraphy. Studies investigating early ADHD risk factors could lead to a preschool ADHD risk index to help guide future early intervention.
Effect of lower urinary tract symptoms on the quality of life and sexual function of males in China, Taiwan, and South Korea: Subgroup analysis of a cross‐sectional, population‐based study
Authors: Liao Limin , Chuang Yao‐Chi , Liu Shih‐Ping , Lee Kyu‐Sung , Yoo Tag Keun , Chu Romeo , Sumarsono Budiwan , Wang Jian‐Ye 
Published: March 2018

ObjectiveLower urinary tract symptoms (LUTS) in males can reduce patients’ quality of life (QoL) and affect sexual function and satisfaction. Although this has been documented in the US, Canada, Germany, Italy, UK, and Sweden, data are limited on the effects of LUTS on QoL and sexual function in Asian men. The present subgroup analysis of an Internet‐based survey correlated the incidence of male LUTS by severity and category with self‐assessed QoL and sexual function and satisfaction measures.MethodsMales aged ≥40 years were randomly selected from consumer survey panels in China, Taiwan, and South Korea. LUTS were defined using the International Continence Society (ICS) 2002 symptom definitions; symptom severity was assessed by the International Prostate Symptom Score (IPSS). The effect of LUTS on QoL was assessed using Patient Perception of Bladder Condition (PPBC) and IPSS QoL scores. Sexual function and satisfaction were assessed using the International Index of Erectile Function (IIEF).ResultsMen with moderate‐to‐severe LUTS and overlap of voiding, storage, and post‐micturition symptom categories reported dissatisfaction with their QoL and sexual function. LUTS severity was negatively correlated with IIEF scores. Overlap of LUTS categories had a greater effect on QoL and sexual satisfaction than the incidence of just 1 LUTS.ConclusionThe findings of the present study suggest that LUTS is prevalent in >60% of Asian males aged ≥40 years and is associated with reduced QoL and sexual function, particularly in those with overlap of LUTS categories and greater symptom severity.