bluuebunny/crossref_metadata_2025_split huggingface dataset:
The adult phenotype of Schaaf-Yang syndrome
Authors: Marbach Felix , Elgizouli Magdeldin , Rech Megan , Beygo Jasmin , Erger Florian , Velmans Clara , Stumpel Constance T. R. M. , Stegmann Alexander P. A. , Beck-Wödl Stefanie , Gillessen-Kaesbach Gabriele , Horsthemke Bernhard , Schaaf Christian P. , Kuechler Alma 
Published: October 2020

Abstract
Background
MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader–Willi syndrome (PWS, OMIM #176270). While larger numbers of younger individuals with SHFYNG have been recently published, the phenotype in adulthood is not well established. We recruited 7 adult individuals (aged 18 to 36) with molecularly confirmed SHFYNG and collected data regarding the clinical profile including eating habits, sleep, behavior, personal autonomy, psychiatric abnormalities and other medical conditions, as well as information about the respective phenotypes in childhood.

Results
Within our small cohort, we identified a range of common features, such as disturbed sleep, hypoactivity, social withdrawal and anxiety, but also noted considerable differences at the level of personal autonomy and skills. Behavioral problems were frequent, and a majority of individuals displayed weight gain and food-seeking behavior, along with mild intellectual disability or borderline intellectual function. Classical symptoms of SHFYNG in childhood were reported for most individuals.

Conclusion
Our findings indicate a high variability of the functional abilities and social participation of adults with SHFYNG. A high prevalence of obesity within our cohort was notable, and uncontrollable food intake was a major concern for some caregivers. The phenotypes of PWS and SHFYNG in adulthood might be more difficult to discern than the phenotypes in childhood. Molecular genetic testing for SHFYNG should therefore be considered in adults with the suspected diagnosis of PWS, if testing for PWS has been negative.
Sex differences in survival after out-of-hospital cardiac arrest: a meta-analysis
Authors: Lei Hao , Hu Jiahui , Liu Leiling , Xu Danyan 
Published: October 2020

Abstract
Background
Out-of-hospital cardiac arrest (OHCA) is a leading cause of sudden cardiac death worldwide. Researchers have found significant pathophysiological differences between females and males and clinically significant sex differences related to medical services. However, conflicting results exist and there is no uniform agreement regarding sex differences in survival and prognosis after OHCA. Therefore, we investigated the relationship between the prognosis of OHCA and sex factors.

Methods
We comprehensively searched the PubMed, Embase, and Cochrane databases and obtained a total of 1042 articles, from which 33 studies were selected for inclusion. The pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using a random-effects model.

Results
The meta-analysis included 1,268,664 patients. Compared with males, females were older (69.7 years vs. 65.4 years, p < 0.05) and more frequently suffered OHCA without witnesses (58.39% vs 62.70%, p < 0.05). Females were less likely to receive in-hospital interventions than males. There was no significant difference between females and males in the survival from OHCA to hospital admission (OR 0.99, 95% CI 0.89–1.1). However, females had lower chances for survival from hospital admission to discharge (OR 0.59, 95% CI 0.48–0.73), overall survival to hospital discharge (OR 0.73, 95% CI 0.62–0.86), and favorable neurological outcomes (OR 0.62, 95% CI 0.47–0.83) compared with males.

Conclusions
Our results indicate that the overall discharge survival rate of females is lower than that of males, and females face a poor prognosis of the nervous system. This is likely related to the pathophysiological characteristics of females, more conservative treatment measures compared with males, and different post-resuscitation care. However, these findings should be interpreted with caution due to the presence of several confounding factors.
β-Glucosidase genes differentially expressed during composting
Authors: Zhang Xinyue , Ma Bo , Liu Jiawen , Chen Xiehui , Li Shanshan , Su Erlie , Gao Liyuan , Li Hongtao 
Published: October 2020

Abstract
Background
Cellulose degradation by cellulase is brought about by complex communities of interacting microorganisms, which significantly contribute to the cycling of carbon on a global scale. β-Glucosidase (BGL) is the rate-limiting enzyme in the cellulose degradation process. Thus, analyzing the expression of genes involved in cellulose degradation and regulation of BGL gene expression during composting will improve the understanding of the cellulose degradation mechanism. Based on our previous research, we hypothesized that BGL-producing microbial communities differentially regulate the expression of glucose-tolerant BGL and non-glucose-tolerant BGL to adapt to the changes in cellulose degradation conditions.

Results
To confirm this hypothesis, the structure and function of functional microbial communities involved in cellulose degradation were investigated by metatranscriptomics and a DNA library search of the GH1 family of BGLs involved in natural and inoculated composting. Under normal conditions, the group of non-glucose-tolerant BGL genes exhibited higher sensitivity to regulation than the glucose-tolerant BGL genes, which was suppressed during the composting process. Compared with the expression of endoglucanase and exoglucanase, the functional microbial communities exhibited a different transcriptional regulation of BGL genes during the cooling phase of natural composting. BGL-producing microbial communities upregulated the expression of glucose-tolerant BGL under carbon catabolite repression due to the increased glucose concentration, whereas the expression of non-glucose-tolerant BGL was suppressed.

Conclusion
Our results support the hypothesis that the functional microbial communities use multiple strategies of varying effectiveness to regulate the expression of BGL genes to facilitate adaptation to environmental changes.
Effect of Porphyromonas gingivalis infection on gut dysbiosis and resultant arthritis exacerbation in mouse model
Authors: Hamamoto Yuta , Ouhara Kazuhisa , Munenaga Syuichi , Shoji Mikio , Ozawa Tatsuhiko , Hisatsune Jyunzo , Kado Isamu , Kajiya Mikihito , Matsuda Shinji , Kawai Toshihisa , Mizuno Noriyoshi , Fujita Tsuyoshi , Hirata Shintaro , Tanimoto Kotaro , Nakayama Koji , Kishi Hiroyuki , Sugiyama Eiji , Kurihara Hidemi 
Published: October 2020

Abstract
Background
Porphyromonas gingivalis (Pg) infection causes periodontal disease and exacerbates rheumatoid arthritis (RA). It is reported that inoculation of periodontopathogenic bacteria (i.e., Pg) can alter gut microbiota composition in the animal models. Gut microbiota dysbiosis in human has shown strong associations with systemic diseases, including RA, diabetes mellitus, and inflammatory bowel disease. Therefore, this study investigated dysbiosis-mediated arthritis by Pg oral inoculation in an experimental arthritis model mouse.

Methods
Pg inoculation in the oral cavity twice a week for 6 weeks was performed to induce periodontitis in SKG mice. Concomitantly, a single intraperitoneal (i.p.) injection of laminarin (LA) was administered to induce experimental arthritis (Pg-LA mouse). Citrullinated protein (CP) and IL-6 levels in serum as well as periodontal, intestinal, and joint tissues were measured by ELISA. Gut microbiota composition was determined by pyrosequencing the 16 s ribosomal RNA genes after DNA purification of mouse feces. Fecal microbiota transplantation (FMT) was performed by transferring Pg-LA-derived feces to normal SKG mice. The effects of Pg peptidylarginine deiminase (PgPAD) on the level of citrullinated proteins and arthritis progression were determined using a PgPAD knockout mutant.

Results
Periodontal alveolar bone loss and IL-6 in gingival tissue were induced by Pg oral infection, as well as severe joint destruction, increased arthritis scores (AS), and both IL-6 and CP productions in serum, joint, and intestinal tissues. Distribution of Deferribacteres and S24-7 was decreased, while CP was significantly increased in gingiva, joint, and intestinal tissues of Pg-inoculated experimental arthritis mice compared to experimental arthritis mice without Pg inoculation. Further, FMT from Pg-inoculated experimental arthritis mice reproduced donor gut microbiota and resulted in severe joint destruction with increased IL-6 and CP production in joint and intestinal tissues. The average AS of FMT from Pg-inoculated experimental arthritis was much higher than that of donor mouse. However, inoculation of the PgPAD knockout mutant inhibited the elevation of arthritis scores and ACPA level in serum and reduced CP amount in gingival, joint, and intestinal tissues compared to Pg wild-type inoculation.

Conclusion
Pg oral infection affected gut microbiota dysbiosis and joint destruction via increased CP generation.
DNMT1-mediated methylation inhibits microRNA-214-3p and promotes hair follicle stem cell differentiate into adipogenic lineages
Authors: Jin Fangcao , Li Min , Li Xuyang , Zheng Yunpeng , Zhang Kun , Liu Xiaojun , Cai Bingjie , Yin Guangwen 
Published: October 2020

Abstract
Background
Dysfunction of the DNA methylation was associated with stem cell reprogramming. Moreover, DNA methyltransferase 1 (DNMT1) deficiency was involved in the differentiation of hair follicle stem cell (HFSc), but the molecular mechanisms remain unknown.

Methods
HFSc from human scalp tissues were isolated and cultured. The oil red O staining was used to observe the adipogenesis. The interaction relationship between microRNA (miR)-214-3p and mitogen-activated protein kinase 1 (MAPK1) was accessed by dual-luciferase reporter gene assay. The methylation level of miR-214-3p promoter was detected by methylation-specific PCR and the enrichment of DNMT1 in miR-214-3p promoter by chromatin immunoprecipitation assay. A mouse model of trauma was established to observe the skin regeneration at 0, 6, and 14 days.

Results
Expression of DNMT1 and MAPK1 was increased in the HFSc, while the expression of miR-214-3p was reduced. Moreover, DNMT1 inhibited the expression of miR-214-3p by promoting the promoter methylation of miR-214-3p. Overexpression of DNMT1 could reduce the expression of miR-214-3p, but increase the expression of MAPK1 and the extent of extracellular signal regulated kinase (ERK)1/2 phosphorylation, leading to enhanced adipogenic differentiation. Importantly, DNMT1 promoted skin regeneration in vivo. Conversely, overexpression of miR-214-3p could reverse the effects of DNMT1 on adipogenesis of HFSc.

Conclusion
DNMT1 promotes adipogenesis of HFSc by mediating miR-214-3p/MAPK1/p-ERK1/2 axis. This study may provide novel biomarkers for the potential application in stem cell therapy.
Patient–ventilator asynchrony in acute brain-injured patients: a prospective observational study
Authors: Luo Xu-Ying , He Xuan , Zhou Yi-Min , Wang Yu-Mei , Chen Jing-Ran , Chen Guang-Qiang , Li Hong-Liang , Yang Yan-Lin , Zhang Linlin , Zhou Jian-Xin 
Published: October 2020

Abstract
Background
Patient–ventilator asynchrony is common in mechanically ventilated patients and may be related to adverse outcomes. Few studies have reported the occurrence of asynchrony in brain-injured patients. We aimed to investigate the prevalence, type and severity of patient–ventilator asynchrony in mechanically ventilated patients with brain injury.

Methods
This prospective observational study enrolled acute brain-injured patients undergoing mechanical ventilation. Esophageal pressure monitoring was established after enrollment. Flow, airway pressure, and esophageal pressure–time waveforms were recorded for a 15-min interval, four times daily for 3 days, for visually detecting asynchrony by offline analysis. At the end of each dataset recording, the respiratory drive was determined by the airway occlusion maneuver. The asynchrony index was calculated to represent the severity. The relationship between the prevalence and the severity of asynchrony with ventilatory modes and settings, respiratory drive, and analgesia and sedation were determined. Association of severe patient–ventilator asynchrony, which was defined as an asynchrony index  ≥ 10%, with clinical outcomes was analyzed.

Results
In 100 enrolled patients, a total of 1076 15-min waveform datasets covering 330,292 breaths were collected, in which 70,156 (38%) asynchronous breaths were detected. Asynchrony occurred in 96% of patients with the median (interquartile range) asynchrony index of 12.4% (4.3%–26.4%). The most prevalent type was ineffective triggering. No significant difference was found in either prevalence or asynchrony index among different classifications of brain injury (p > 0.05). The prevalence of asynchrony was significantly lower during pressure control/assist ventilation than during other ventilatory modes (p < 0.05). Compared to the datasets without asynchrony, the airway occlusion pressure was significantly lower in datasets with ineffective triggering (p < 0.001). The asynchrony index was significantly higher during the combined use of opioids and sedatives (p < 0.001). Significantly longer duration of ventilation and hospital length of stay after the inclusion were found in patients with severe ineffective triggering (p < 0.05).

Conclusions
Patient–ventilator asynchrony is common in brain-injured patients. The most prevalent type is ineffective triggering and its severity is likely related to a long duration of ventilation and hospital stay. Prevalence and severity of asynchrony are associated with ventilatory modes, respiratory drive and analgesia/sedation strategy, suggesting treatment adjustment in this particular population.
Trial registration The study has been registered on 4 July 2017 in ClinicalTrials.gov (NCT03212482) (https://clinicaltrials.gov/ct2/show/NCT03212482).
Protocol for a systematic review and network meta-analysis of randomised controlled trials examining the effectiveness of early parenting interventions in preventing internalising problems in children and adolescents
Authors: Costantini Ilaria , Paul Elise , Caldwell Deborah M. , López-López José A. , Pearson Rebecca M. 
Published: October 2020

AbstractBackgroundInternalising problems, such as depression and anxiety, are common and represent an important economical and societal burden. The effectiveness of parenting interventions in reducing the risk of internalising problems in children and adolescents has not yet been summarised. The aims of this review are to assess the effectiveness of parenting interventions in the primary, secondary and tertiary prevention of internalising problems in children and adolescents and to determine which intervention components and which intervention aspects are most effective for reducing the risk of internalising problems in children and adolescents.MethodsElectronic searches in OVID SP versions of MEDLINE, EMBASE and PsycINFO; Cochrane Central Register of Controlled Trials; EBSCO version of ERIC andClinicalTrials.govhave been performed to identify randomised controlled trials or quasi-randomised controlled trials of parenting interventions. At least two independent researchers will assess studies for inclusion and extract data from each paper. The risk of bias assessment will be conducted independently by two reviewers using the Cochrane Collaboration’s Risk of Bias Assessment Tool. Statistical heterogeneity is anticipated given potential variation in participant characteristics, intervention type and mode of delivery, and outcome measures. Random effects models, assuming a common between-study variability, will be used to account for statistical heterogeneity. Results will be analysed using a network meta-analysis (NMA). If appropriate, we will also conduct a component-level NMA, where the ‘active ingredients’ of interventions are modelled using a network meta-regression approach.DiscussionPreventing and reducing internalising problems could have major beneficial effects at the economic and societal level. Informing policy makers on the effectiveness of parenting interventions and on which intervention’s component is driving the effect is important for the development of treatment strategies.Systematic review registrationInternational Prospective Register for Systematic Reviews (PROSPERO) numberCRD42020172251
Costs incurred by patients with drug-susceptible pulmonary tuberculosis in semi-urban and rural settings of Western India
Authors: Rupani Mihir P. , Cattamanchi Adithya , Shete Priya B. , Vollmer William M. , Basu Sanjib , Dave Jigna D. 
Published: October 2020

Abstract
Background
India reports the highest number of tuberculosis (TB) cases worldwide. Poverty has a dual impact as it increases the risk of TB and exposes the poor to economic hardship when they develop TB. Our objective was to estimate the costs incurred by patients with drug-susceptible TB in Bhavnagar (western India) using an adapted World Health Organization costing tool.

Methods
We conducted a descriptive cross-sectional study of adults, notified in the public sector and being treated for drug-susceptible pulmonary TB during January–June 2019, in six urban and three rural blocks of Bhavnagar region, Gujarat state, India. The direct and indirect TB-related costs, as well as patients’ coping strategies, were assessed for the overall care of TB till treatment completion. Catastrophic costs were defined as total costs > 20% of annual household income (excluding any amount received from cash transfer programs or borrowed). Median and interquartile range (IQR) was used to summarize patient costs. The median costs between any two groups were compared using the median test. The association between any two categorical variables was tested by the Pearson chi-squared test. All costs were described in US dollars (USD). During the study period, on average, one USD equalled 70 Indian Rupees.

Results
Of 458 patients included, 70% were male, 62% had no formal education, 71% lived in urban areas, and 96% completed TB treatment. The median (IQR) total costs were USD 8 (5–28), direct medical costs were USD 0 (0–0), direct non-medical costs were USD 3 (2–4) and indirect costs were USD 6 (3–13). Among direct non-medical costs, travel cost (median = USD 3, IQR: 2–4) to attend health facilities were the most prominent, whereas the indirect costs were mainly contributed by the patient’s loss of wages (median = USD 3, IQR: 0–6). Four percent of patients faced catastrophic costs, 11% borrowed money to cover costs and 7% lost their employment; the median working days lost to TB was 30 (IQR: 15–45). A majority (88%) of patients received a median USD 43 (IQR: 41–43) as part of a cash transfer program for TB patients.

Conclusions
Treatment completion was high and the costs incurred by TB patients were low in this setting. However, negative financial consequences occur even in low-cost settings. The role of universal cash transfer programs in such settings requires further study.
What are the effects of supporting early parenting by newborn behavioral observations (NBO)? A cluster randomised trial
Authors: Kristensen Ingeborg Hedegaard , Juul Svend , Kronborg Hanne 
Published: October 2020

Abstract
Background
Professional support to enhance the early parent-infant relationship in the first months after birth is recommended, but little is known about the effect of universal interventions. The objective was to investigate the effect of health visitors’ use of the Newborn Behavioral Observations system in new families.

Methods
A cluster-randomised study was conducted in four Danish municipalities. Health visitors’ geographical districts constituted the units for randomisation (n = 17). In the intervention group, 1332 families received NBO from 3 weeks after birth; in the comparison group, 1234 received usual care. Self-administered questionnaires were collected at baseline one to two weeks after birth, and at follow-up three and nine months postpartum. The outcomes were change over time measured by The Karitane Parenting Confidence Scale (KPCS), The Major Depression Inventory (MDI), The Ages and Stages Questionnaire: social-emotional (ASQ:SE) and The Mother and Baby Interaction Scale (MABIC). Data were analysed with mixed-effects linear regression using the intention-to-treat approach.

Results
At baseline, no significant differences between the two groups were seen regarding maternal and infant factors. At follow-up three and nine months after birth, the change in maternal confidence and mood, infant’s socio-emotional behaviour, and early parent-infant relationship moved in a slightly more positive direction in the intervention group than in the comparison group, though not statistically significant. The only significant effect was that the intervention mothers reported higher level of knowledge about infant’s communication skills, response to cues, and how to sooth and establish a relation with the infant, compared to the comparison group.

Conclusions
We found no effect of the NBO system delivered in a universal context to all families in a community setting. The only significant difference between groups was a higher maternal degree of knowledge regarding early parenting in the intervention group.

Trial registration
ClinicalTrials.gov ID: NCT03070652. Registrated February 22, 2017.
Historical scarf and splice carpentry joints: state of the art
Authors: Karolak Anna , Jasieńko Jerzy , Raszczuk Krzysztof 
Published: October 2020

Abstract
This paper summarises the current state of knowledge related to scarf and splice carpentry joints in flexural elements, also providing some examples of tensile joints. Descriptions and characteristics of these types of joints found in historical buildings are presented. In addition, issues related to forming carpentry joints in historic and heritage structures are discussed. Next, analyses and studies of flexural elements as well as selected examples of tensile joints described in the literature are presented. It is worth noting that authors of vast majority of the publications cited draw attention to the need for further research in this area. They acknowledge that existing descriptions are incomplete and insufficient for bringing about precise understanding and correct description of the static behaviour of these joints. Knowledge about designing and assessing static behaviour of existing carpentry joints is an important issue and is necessary to properly design and strengthen existing joints in historical timber structures.