bluuebunny/crossref_metadata_2025_split huggingface dataset:
Observation of Cleft Palate in an Individual with SOX11 Mutation
Authors: Khan Umair , Study DDD , Baker Eleanor , Clayton-Smith Jill 
Published: February 2018

Objective: Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips. Participant: We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. Results: This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations. Conclusion: We discuss This adds to the current evidence that SOX11 is a gene involved in palatogenesis.
How Close to the “Honeypot?”
Authors: Belackova Vendula , Brandnerova Michaela , Vechet David 
Published: February 2018

Background: This study aimed to assess how cannabis markets compare in two states with different cannabis policies. The possession of cannabis is decriminalized in both the Czech Republic (de facto) and in New South Wales (NSW; de jure), but personal cannabis cultivation has been tolerated/decriminalized only in the Czech Republic. Methods: Semistructured interviews were conducted in the Czech Republic ( n = 25) and in NSW, Australia ( n = 25) between 2009 and 2014 and analyzed with thematic and qualitative content analysis. Findings: The Czech respondents often grew their own cannabis or got it directly from somebody who grew it. Cannabis users in both places preferred quality cannabis which was free of chemicals, but the Australian respondents seemed more likely to get cannabis that varied in quality and was potentially produced under large-scale, unsafe conditions. Triangulation with other data sources suggests that these findings could apply more broadly. Conclusions: The findings of this study indicate that policy can encourage the proliferation of small-scale cannabis cultivation, leading to lower health and social risks. Policy approaches that tolerate such cultivation should be considered as an alternative or as a complement to the existing or proposed cannabis policies.
An Empirical Investigation of the Employee Work Passion Appraisal Model Using Self-Determination Theory
Authors: Thibault-Landry Anaïs , Egan Richard , Crevier-Braud Laurence , Manganelli Lara , Forest Jacques 
Published: February 2018

The Problem Employee work passion theory offers an appraisal-based approach that explains how work passion is formulated in individuals. Self-determination theory postulates that the satisfaction of three basic psychological human needs (competence, relatedness, and autonomy) is essential for individuals to flourish and thrive at work. The role of basic psychological need satisfaction in the employee work passion appraisal process is yet to be examined. The Solution We investigated the relations between employees’ cognitive appraisals of their work environment characteristics (work cognitions), their basic psychological need satisfaction, and their work intentions. Our study provided empirical evidence showing that employees’ cognitive appraisals of work characteristics such as job autonomy, task variety, meaningful work, and performance expectations were positively related to basic psychological need satisfaction, which, in turn, positively impacted their work intentions, thus indicating the subjective experience of work passion. The Stakeholders Results suggest that organizational leaders, supervisors, and human resource development (HRD) practitioners could develop interventions that promote specific workplace characteristics and are aimed at contributing to the fulfillment of employees’ basic psychological needs. In so doing, employees and stakeholders could benefit from the individual and organizational outcomes that flow from employees experiencing greater work passion.
Toward a New Curriculum of Leadership Competencies: Advances in Motivation Science Call for Rethinking Leadership Development
Authors: Fowler Susan 
Published: February 2018

The Problem Leadership competencies are designed to equip leaders with the knowledge, skills, abilities, and other characteristics, required to effectively lead people toward the achievement of organizational goals. However, advances in motivation science, specifically the development of self-determination theory, suggest that many current leadership competency models contain outdated approaches to motivation that undermine their intended purpose of leadership effectiveness. The Solution New motivation leadership competencies grounded in self-determination theory are recommended to promote leadership behaviors that support people’s psychological needs. These foundational competencies take advantage of compelling motivation research to provide a filtering mechanism for culling outdated competencies proven to undermine effective performance, but also provide the basis for congruent leadership skills that promote flourishing in the workplace. The Stakeholders Human resource development (HRD) practitioners will benefit from the rationale and recommendations for introducing a new set of competencies based on self-determination theory into their leadership development efforts. While executives or leaders in the team and organizational contexts will appreciate the consideration of expanding or rethinking their own leader behaviors, the new competencies are most relevant for leaders of individual contributors in the one-to-one context.
Influence of Meniscal and Chondral Lesions on Patient-Reported Outcomes After Primary Anterior Cruciate Ligament Reconstruction at 2-Year Follow-up
Authors: Cinque Mark E. , Chahla Jorge , Mitchell Justin J. , Moatshe Gilbert , Pogorzelski Jonas , Murphy Colin P. , Kennedy Nicholas I. , Godin Jonathan A. , LaPrade Robert F. 
Published: February 2018

Background: Meniscal and chondral lesions are commonly associated with anterior cruciate ligament (ACL) tears, and these lesions may play a role in patient outcomes after ACL reconstruction. Purpose: To determine the effects of the presence and location of meniscal and chondral lesions at the time of ACL reconstruction on patient-reported outcomes at a minimum 2-year follow-up. Study Design: Cohort study; Level of evidence, 3. Methods: Patients with no prior knee surgery who underwent primary ACL reconstruction by a single surgeon between 2010 and 2014 were included in this study. Those meeting inclusion criteria were divided into the following groups based on the arthroscopic diagnosis: patients without concomitant meniscal or chondral lesions, patients with isolated meniscal lesions, patients with isolated chondral lesions, and patients with both chondral and meniscal lesions. Patient-reported outcomes (Short Form–12 [SF-12] physical component summary [PCS] and mental component summary [MCS], Western Ontario and McMaster Universities Osteoarthritis Index [WOMAC], and Lysholm scale) were assessed at a minimum of 2 years from the index surgery. Results: A total of 151 patients met the inclusion criteria and were included in the study. The mean age at the time of surgery was 36.2 years (range, 14-73 years), and the mean follow-up was 3.2 years (range, 2.0-5.6 years). At the time of surgery, 33 (22%) patients had no concomitant lesions and served as the control group, 63 (42%) patients had isolated meniscal lesions, 21 (14%) patients had isolated chondral lesions, and 34 (22%) patients had both chondral and meniscal lesions. There was significant improvement in all outcome scores postoperatively for the 3 groups ( P < .05 for all outcome scores). The presence of a meniscal tear and laterality of the meniscal lesion did not have a negative effect on any postoperative outcome scores. Patients with isolated chondral lesions had significantly lower postoperative WOMAC scores compared with patients without chondral lesions ( P < .05). No significant differences were found for all other scores. Patients with patellofemoral chondral lesions had significantly lower postoperative SF-12 PCS and Lysholm scores than patients with tibiofemoral chondral lesions ( P < .05). Conclusion: Patients with ACL tears achieved improved functional scores at a mean 3.2 years after ACL reconstruction. While meniscal lesions did not affect postoperative outcomes in the short term, chondral lesions were identified as a predictor for worse outcomes.
Memory, learning and language in autism spectrum disorder
Authors: Boucher Jill , Anns Sophie 
Published: February 2018

Background and aims The ‘dual-systems’ model of language acquisition has been used by Ullman et al. to explain patterns of strength and weakness in the language of higher-functioning people with autism spectrum disorder. Specifically, intact declarative/explicit learning is argued to compensate for a deficit in non-declarative/implicit procedural learning, constituting an example of the so-called see-saw effect. Ullman and Pullman extended their argument concerning a see-saw effect on language in autism spectrum disorder to cover other perceived anomalies of behaviour, including impaired acquisition of social skills. The aim of this paper is to present a critique of Ullman et al.’s claims and to propose an alternative model of links between memory systems and language in autism spectrum disorder. Main contribution We argue that a four-system model of learning, in which intact semantic and procedural memory are used to compensate for weaknesses in episodic memory and perceptual learning, can better explain patterns of language ability across the autistic spectrum. We also argue that attempts to generalise the ‘impaired implicit learning/spared declarative learning’ theory to other behaviours in autism spectrum disorder are unsustainable. Conclusions Clinically significant language impairments in autism spectrum disorder are under-researched, despite their impact on everyday functioning and quality of life. The relative paucity of research findings in this area lays it open to speculative interpretation which may be misleading. Implications More research is needed into links between memory/learning systems and language impairments across the spectrum. Improved understanding should inform therapeutic intervention and contribute to investigation of the causes of language impairment in autism spectrum disorder with potential implications for prevention.
Assessment of clinical effect and treatment quality of immediate-release carvedilol-IR versus SLOW release carvedilol-SR in Heart Failure patients (SLOW-HF): study protocol for a randomized controlled trial
Authors: Choi Dong-Ju , Park Chan Soon , Park Jin Joo , Lee Hae-Young , Kang Seok-Min , Yoo Byung-Su , Jeon Eun-Seok , Hong Seok Keun , Shin Joon-Han , Kim Myung-A , Park Dae-Gyun , Kim Eung-Ju , Hong Soon-Jun , Kim Seok Yeon , Kim Jae-Joong 
Published: February 2018

Abstract
Background
Carvedilol is a non-selective, third-generation beta-blocker and is one of the cornerstones for treatment for patients with heart failure and reduced ejection fraction (HFrEF). However, due to its short half-life, immediate-release carvedilol (IR) needs to be prescribed twice a day. Recently, slow-release carvedilol (SR) has been developed. The aim of this study is to evaluate whether carvedilol-SR is non-inferior to standard carvedilol-IR in terms of its clinical efficacy in patients with HFrEF.

Methods/design
Patients with stable HFrEF will be randomly assigned in a 1:1 ratio to the carvedilol-SR group (160 patients) and the carvedilol-IR group (160 patients). Patients aged ≥ 20 years, with a left ventricular ejection fraction ≤ 40%, N-terminal pro B-natriuretic peptide (NT-proBNP) ≥ 125 pg/ml or BNP ≥ 35 pg/ml, who are clinically stable and have no evidence of congestion or volume retention, will be eligible. After randomization, patients will be followed up for 6 months. The primary endpoint is the change in NT-proBNP level from baseline to the study end. The secondary endpoints include the proportion of patients with NT-proBNP increment > 10% from baseline, composite of all-cause mortality and readmission, mortality rate, readmission rate, changes in blood pressure, quality of life, and drug compliance.

Discussions
The SLOW-HF trial is a prospective, randomized, open-label, phase-IV, multicenter study to evaluate the therapeutic efficacy of carvedilol-SR compared to carvedilol-IR in HFrEF patients. If carvedilol-SR proves to be non-inferior to carvedilol-IR, a once-daily prescription of carvedilol may be recommended for patients with HFrEF.

Trial registration
ClinicalTrials.gov, ID: NCT03209180. Registered on 6 July 2017.
Molecular characteristics and successful management of a respiratory syncytial virus outbreak among pediatric patients with hemato-oncological disease
Authors: Baier Claas , Haid Sibylle , Beilken Andreas , Behnert Astrid , Wetzke Martin , Brown Richard J. P. , Schmitt Corinna , Ebadi Ella , Hansen Gesine , Schulz Thomas F. , Pietschmann Thomas , Bange Franz-Christoph 
Published: February 2018

Abstract
Background
Respiratory syncytial virus (RSV) is responsible for upper and lower respiratory tract infection in adults and children. Especially immunocompromised patients are at high risk for a severe course of infection, and mortality is increased. Moreover RSV can spread in healthcare settings and can cause outbreaks. Herein we demonstrate the successful control and characteristics of a RSV outbreak that included 8 patients in our Department of Pediatric Hematology and Oncology.

Methods
We performed an epidemiologic investigation and a molecular analysis of the outbreak strains. Moreover we present the outbreak control bundle and our concept for RSV screening in the winter season.

Results
RSV A and B strains caused the outbreak. RSV B strains affected 3 patients, 2 of whom were co-infected with RSV A. Exactly this RSV A strain was detected in another 5 patients. Our multimodal infection control bundle including prophylactic RSV screening was able to rapidly stop the outbreak.

Conclusion
An infection control bundle in RSV outbreaks should address all potential transmission pathways. In pediatric settings the restriction of social activities might have a temporal negative impact on quality of life but helps to limit transmission opportunities. Molecular analysis allows better understanding of RSV outbreaks and, if done in a timely manner, might be helpful for guidance of infection control measures.
Probiotic supplementation in dental caries: is it possible to replace conventional treatment?
Authors: Coqueiro Audrey Yule , Bonvini Andrea , Raizel Raquel , Tirapegui Julio , Rogero Marcelo Macedo 
Published: February 2018

AbstractBackgroundProbiotic supplementation alters oral microbiota composition and could reduce the risk or treat oral cavity diseases, such as dental caries, which are considered a public health problem.AimTo summarize the therapeutic effects of probiotics in caries and to verify whether this intervention is capable of replacing conventional treatment in human beings.MethodsThe search of the studies was carried out in the PubMed database in October 2017, without limiting the publication period. The keyword combination used was “Probiotics” and “Dental caries.” Forty-two original articles that evaluated the effect of probiotic supplementation on caries treatment in humans were included in the study.ResultsMost of the studies evaluated bacteria of the genusLactobacillus. The main therapeutic effects are related to the reduction of theStreptococcus mutansoral count, increasedLactobacillusoral count, and reduction in the incidence of caries. Evidence on the therapeutic effects of theBifidobacteriumandStreptococcusgenres is scarce and conflicting, making it difficult to recommend them for use in clinical practice. Only a few studies administered probiotics without conventional treatments, such as fluoride. Although probiotic supplementation presented interesting properties, the therapeutic effects are more pronounced when probiotic and fluoride are applied together.ConclusionProbiotics, especially of theLactobacillusgenus, can be used as adjuvants, but cannot replace the conventional treatments of caries.
Leukodystrophies
Authors: Waldman Amy T. 
Published: February 2018

ABSTRACT

PURPOSE OF REVIEW
The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation for leukodystrophies, along with the currently available therapies and recent advances in management.

RECENT FINDINGS
The leukodystrophies are a rapidly expanding field because of advances in neuroimaging and genetics; however, recognition of the clinical and biochemical features of a leukodystrophy is essential to accurately interpret an abnormal MRI or genetic result. Moreover, the initial symptoms of leukodystrophies may mimic other common pediatric disorders, leading to a delay in the recognition of a degenerative disorder.

SUMMARY
This article will aid the clinician in recognizing the clinical features of leukodystrophies and providing accurate diagnosis and management.
Evaluation of the Child With Developmental Impairments
Authors: van Karnebeek Clara D. M. 
Published: February 2018

ABSTRACT

PURPOSE OF REVIEW
This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in children.

RECENT FINDINGS
With a prevalence of 1% to 3% and substantial comorbidity, high lifetime costs, and emotional burden, intellectual developmental disorder is characterized by limitations in both intellectual functioning (IQ less than 70) and adaptive behavior starting before 18 years of age. Pinpointing the precise genetic cause is important, as it allows for accurate genetic counseling, avoidance of unnecessary testing, prognostication, and tailored management, which, for an increasing number of genetic conditions, targets the pathophysiology and improves outcomes.

SUMMARY
The etiology of intellectual developmental disorder is heterogeneous, which mandates a structured approach that considers family situation, test costs, yield, and potential therapeutic tractability of the identified condition. Diagnosis of an underlying genetic cause is increasingly important with the advent of new treatments. Still, in many cases, the cause remains unknown, and research is needed to elucidate its complex molecular basis.
Pediatric Sleep Disorders
Authors: Maski Kiran , Owens Judith 
Published: February 2018

ABSTRACT

PURPOSE OF REVIEW
This article provides an overview of the clinical features, diagnosis, and treatment of insomnia, restless legs syndrome, periodic limb movements of sleep, parasomnias, narcolepsy, and sleep-related breathing disorders among children and adolescents.

RECENT FINDINGS
Pediatric presentations of sleep disorders differ from adult presentations, making diagnosis challenging. Specific clinical syndromes, such as cataplexy in children with narcolepsy type 1, can have an altogether different presentation compared to adult-onset symptoms, contributing to diagnostic delays and potential misdiagnoses. More broadly, research shows strong associations between sleep and daytime cognition, mood, and behavior among children with and without neurologic conditions and thus suggests a need to identify and treat sleep problems to optimize daytime functioning.

SUMMARY
Addressing sleep problems in children with neurologic conditions and neurodevelopmental disorders improves quality of life for patients and their families and, in many cases, reduces neurologic disease burden.
Evaluation and Management of the Child With Autism Spectrum Disorder
Authors: Baumer Nicole , Spence Sarah J. 
Published: February 2018

ABSTRACT

PURPOSE OF REVIEW
Autism spectrum disorder is a neurodevelopmental disorder defined by deficits in social communication and the presence of restricted and repetitive behaviors and interests. This article provides the tools to diagnose and manage patients with autism spectrum disorder.

RECENT FINDINGS
Autism spectrum disorder is a heterogeneous condition with varying presentations, multiple etiologies, and a number of comorbidities that impact the course and management of the disorder. This article defines the core features of social communication deficits, including problems with social reciprocity, decreased nonverbal communication, and difficulties in developing and maintaining relationships. The second domain of repetitive behaviors and restricted interests, which includes the presence of stereotyped behaviors or speech, insistence on sameness and behavioral rigidity, intense or out of the ordinary interests, and unusual responses to sensory stimulation, is also delineated. Comorbidities commonly seen with autism spectrum disorder include medical, neurologic, and psychiatric conditions. Despite intense research efforts, the etiology of autism spectrum disorder remains unknown in most cases, but it is clear that a strong genetic component exists that interacts with various environmental risk factors. Current research is identifying overlapping neurobiological pathways that are involved in pathogenesis. Treatment involves intensive behavioral therapy and educational programming along with traditional ancillary services, such as speech/language, occupational, and physical therapies. Psychopharmacologic treatments are also used to target certain symptoms and comorbid conditions.

SUMMARY
Neurologists can play an important role in diagnosing autism spectrum disorder according to clinical criteria through a comprehensive evaluation that includes a thorough medical and developmental history, behavioral and play observations, and a review of standardized cognitive and language evaluations. Neurologists are also responsible for investigating etiologies, recommending and advocating for appropriate behavioral and educational interventions, and identifying and often managing comorbidities.
Improving Hip-Worn Accelerometer Estimates of Sitting Using Machine Learning Methods
Authors: KERR JACQUELINE , CARLSON JORDAN , GODBOLE SUNEETA , CADMUS-BERTRAM LISA , BELLETTIERE JOHN , HARTMAN SHERI 
Published: February 2018

ABSTRACT

Purpose
This study aimed to improve estimates of sitting time from hip-worn accelerometers used in large cohort studies by using machine learning methods developed on free-living activPAL data.

Methods
Thirty breast cancer survivors concurrently wore a hip-worn accelerometer and a thigh-worn activPAL for 7 d. A random forest classifier, trained on the activPAL data, was used to detect sitting, standing, and sit–stand transitions in 5-s windows in the hip-worn accelerometer. The classifier estimates were compared with the standard accelerometer cut point, and significant differences across different bout lengths were investigated using mixed-effect models.

Results
Overall, the algorithm predicted the postures with moderate accuracy (stepping, 77%; standing, 63%; sitting, 67%; sit-to-stand, 52%; and stand-to-sit, 51%). Daily level analyses indicated that errors in transition estimates were only occurring during sitting bouts of 2 min or less. The standard cut point was significantly different from the activPAL across all bout lengths, overestimating short bouts and underestimating long bouts.

Conclusions
This is among the first algorithms for sitting and standing for hip-worn accelerometer data to be trained from entirely free-living activPAL data. The new algorithm detected prolonged sitting, which has been shown to be the most detrimental to health. Further validation and training in larger cohorts is warranted.