bluuebunny/crossref_metadata_2025_split huggingface dataset:
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Authors: Villate Olatz , Maortua Hiart , Tejada María-Isabel , Llano-Rivas Isabel 
Published: February 2022

BackgroundSotos syndrome is an autosomal dominant disorder characterized by overgrowth, macrocephaly, distinctive facial features and learning disabilities. Haploinsufficiency of the nuclear receptor SET domain-containing protein 1 (NSD1) gene located on chromosome 5q35 is the major cause of the syndrome. This syndrome shares characteristics with other overgrowth syndromes, which can complicate the differential diagnosis.MethodsGenomic DNA was extracted from peripheral blood samples of members of the same family and targeted exome analysis was performed. In silico study of the variant found by next-generation sequencing was used to predict disruption/creation of splice sites and the identification of potential cryptic splice sites. RNA was extracted from peripheral blood samples of patients and functional analyses were performed to confirm the pathogenicity.ResultsWe found a novel c.6463 + 5G&gt;A heterozygous NSD1 gene pathogenic variant in a son and his father. Molecular analyses revealed that part of the intron 22 of NSD1 is retained due to the destruction of the splicing donor site, causing the appearance of a premature stop codon in the NSD1 protein.ConclusionsOur findings underline the importance of performing RNA functional assays in order to determine the clinical significance of intronic variants, and contribute to the genetic counseling and clinical management of patients and their relatives. Our work also highlights the relevance of using in silico prediction tools to detect a potential alteration in the splicing process.
The Effects of Different Doses of Alfentanil and Dexmedetomidine on Prevention of Emergence Agitation in Pediatric Tonsillectomy and Adenoidectomy Surgery
Authors: Zhang Yan-zhuo , Wei Xiong-li , Tang Bin , Qin Yuan-yuan , Ou Min , Jiang Xiao-hong , Tan Yu-feng , Ye Mao-ying 
Published: February 2022

Background: Emergence agitation (EA) is a common problem often observed in children after sevoflurane anesthesia, which can be prevented by dexmedetomidine and alfentanil. This study aims to compare the effectiveness of dexmedetomidine alone and with different doses of alfentanil in preventing EA in children under sevoflurane anesthesia.Materials and Methods: In a double-blind trial, 80 children (ASA I or II, 3–7 years old) undergoing tonsillectomy alone and adenotonsillectomy with sevoflurane anesthesia were randomly assigned into four groups: the control group, dexmedetomidine (DEX) group, dexmedetomidine plus 10 μg/kg alfentanil group (DEX + Alf1), and dexmedetomidine plus 20 μg/kg alfentanil group (DEX + ALf2). The incidence of EA was assessed with the Aono’s scale, and the severity of EA was evaluated with the Pediatric Anesthesia Emergence Delirium (PAED) scale. The time of tracheal extubation and time of wake were recorded. Postoperative pain and complications such as nausea and vomiting, cough, laryngospasm, and bradycardia were recorded.Results: The incidence of EA was 50% in the control group, 25% in the DEX group, and 5% in the DEX + Alf1 group, and it never happened in the DEX + Alf2 group. The Aono’s scale, the PAED scale, and the FLACC scale in the control group and the DEX group were significantly more than those in the DEX + Alf1 group and the DEX + Alf2 group after the tracheal extubation (p &lt; 0.05). The time of tracheal extubation of the control group and the DEX group were significantly shorter than those in the DEX + Alf1 group and the DEX + Alf2 group (p &lt; 0.05). The awakening time of the DEX + Alf2 group is significantly longer than those in other groups (p &lt; 0.05). The case of postoperative nausea and vomiting in the DEX + Alf1 group was fewer than those in the other groups (p &lt; 0.05). And, the cases of cough and laryngospasm and bronchospasm in the DEX + Alf1 group and the DEX + Alf2 group were significantly less than those in the control group and the DEX group after the tracheal extubation (p &lt; 0.05).Conclusion: The combined administration of alfentanil and dexmedetomidine can reduce EA in children undergoing tonsillectomy alone and adenotonsillectomy with sevoflurane anesthesia. Dexmedetomidine plus 10 μg/kg alfentanil seems to be more appropriate than other dose combinations as it reduced EA and postoperative nausea and vomiting but did not prolong the time to awake.
Lensless Fourier-Transform Terahertz Digital Holography for Full-Field Reflective Imaging
Authors: Zhang Yaya , Zhao Jie , Wang Dayong , Li Kunlun , Rong Lu , Wang Yunxin 
Published: February 2022

Continuous-wave terahertz digital holography (TDH) is a full-field lensless phase imaging approach usually with the coherent THz laser. It has the potential to be applied to nondestructive testing. In order to simplify the reconstruction and utilize the THz radiation with higher efficiency, a full-field reflective lensless Fourier-transform TDH (RLF-TDH) configuration is proposed with oblique illumination mode based on 2.52 THz radiation. A spherical reference beam is generated by a reflective concave mirror in order to reduce the loss of THz radiation, which is different from other configurations of the same kind. In the reconstruction process, the complex-amplitude image can be obtained by directly applying single Fourier transform to the digital hologram; thus, it is very possible to achieve real-time imaging. A tilted plane correction method is implemented to correct the anamorphism caused by the nonparallel planes between the object and recording plane. The profile information of the object can be measured from the unwrapped, aberration-free phase image. Two reflective gold-coated samples are adopted to demonstrate the validity of the RLF-TDH imaging system.
Wealth Distribution in Villages. Transition From Socialism to Capitalism in View of Exhaustive Wealth Data and a Master Equation Approach
Authors: Gere István , Kelemen Szabolcs , Biró Tamás S. , Néda Zoltán 
Published: February 2022

Socio-economic inequalities derived from an exhaustive wealth distribution is studied in a closed geographical region from Transylvania (Romania). Exhaustive wealth data is computed from the agricultural records of the Sancraiu commune for three different economic periods. The data is spanning two different periods from the communist economy and gives a glance to the present situation after 31 years of free market economy in Romania. The local growth and reset model based on an analytically solvable master equation is used to describe the observed data. The model with realistically chosen growth and reset rates is successful in describing both the experimentally observed distributions and the inequality indexes (Lorenz curve, Gini coefficient, and Pareto point) derived from this data. The observed changes in the inequality measures are discussed in the context of the relevant socio-economic conditions.
Implicit Mentalizing in Patients With Schizophrenia: A Systematic Review and Meta-Analysis
Authors: Csulak Timea , Hajnal András , Kiss Szabolcs , Dembrovszky Fanni , Varjú-Solymár Margit , Sipos Zoltán , Kovács Márton Aron , Herold Márton , Varga Eszter , Hegyi Péter , Tényi Tamás , Herold Róbert 
Published: February 2022

IntroductionMentalizing is a key aspect of social cognition. Several researchers assume that mentalization has two systems, an explicit one (conscious, relatively slow, flexible, verbal, inferential) and an implicit one (unconscious, automatic, fast, non-verbal, intuitive). In schizophrenia, several studies have confirmed the deficit of explicit mentalizing, but little data are available on non-explicit mentalizing. However, increasing research activity can be detected recently in implicit mentalizing. The aim of this systematic review and meta-analysis is to summarize the existing results of implicit mentalizing in schizophreniaMethodsA systematic search was performed in four major databases: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials (CENTRAL), Web of Science. Eleven publications were selected. Five studies were found to be eligible for quantitative synthesis, and 9 studies were included in qualitative synthesis.ResultsThe meta-analysis revealed significantly lower accuracy, slower reaction time during implicit mentalizing in patients with schizophrenia. The systematic review found different brain activation pattern, further alterations in visual scanning, cue fixation, face looking time, and difficulties in perspective taking.DiscussionOverall, in addition to the deficit of explicit mentalization, implicit mentalization performance is also affected in schizophrenia, if not to the same extent. It seems likely that some elements of implicit mentalization might be relatively unaffected (e.g., detection of intentionality), but the effectiveness is limited by certain neurocognitive deficits. These alterations in implicit mentalizing can also have potential therapeutic consequences.Systematic Review Registration:https://www.crd.york.ac.uk/prospero/, identifier: CRD42021231312.
Spanish Validation of the Multidimensional Existential Meaning Scale: Which Dimension of Meaning in Life Is More Associated With Psychopathology in People With Mental Disorders?
Authors: Marco Jose Heliodoro , García-Alandete Joaquín , Pérez Rodríguez Sandra , Guillén Verónica , Baños Rosa M. , Tormo-Irun Maria Pilar 
Published: February 2022

BackgroundTo assess three dimensions of Meaning in Life (comprehension, purpose, and mattering) the Multidimensional Existential Meaning Scale (MEMS) was developed, however, the MEMS's factorial structure has not yet been confirmed in a Spanish-speaking sample. A question that remains unanswered is which of the three dimensions of MiL are associated with psychopathology in clinical samples.Aims(1) to analyze the psychometric properties of the MEMS in a Spanish non-clinical population, and (2) to identify which of the three dimensions of MiL shows the strongest relationship with depression, anxiety and positive affect in a clinical population.MethodThe non-clinical sample, consisted of N = 1106 Spanish adults, and the clinical sample consisted of 88 adults diagnosed with mental disorders. A Confirmatory Factor Analysis and regression analysis were carried out.ResultsThe three-factor model for the MEMS showed an acceptable fit, and full invariance across gender groups. In the clinical sample, the mattering dimension had the highest association with depression and anxiety, and purpose with positive affect.ConclusionThe MEMS is an adequate instrument to assess the three dimensions of meaning in Spanish-speaking participants. These results support the importance of evaluating the MiL construct from a multidimensional perspective in clinical samples.
COVID-19 in Saudi Arabia: An Overview
Authors: Salam Asharaf Abdul , Al-Khraif Rshood M. , Elsegaey Ibrahim 
Published: February 2022

BackgroundSaudi Arabia, a prominent Arabian country, has 35. 3 million persons living in 2.2 million square kilometers, undergone serious threats recently due to the COVID-19 pandemic. With the built-in infrastructure and disciplined lifestyle, the country could address this pandemic.AimsThis analysis of COVID-19 cases in Saudi Arabia attempts to assess the situation, explore its global percentage share, percentage of population affected, and local distribution from the beginning of infection until recently, tracing historical developments and changes.Data and MethodsThis analysis made use of data released by the Ministry of Health on a daily basis for a number of parameters. They are compiled on an excel sheet on a daily basis: the dataset has undergone rigorous analysis along with the trends and patterns; proportion to the world statistics and geographic distribution.ResultsCOVID-19 spread rapidly in the country with periodic variations, during June-August, 2020. But, recoveries accelerated in the period, thus bridging the gap of increasing infections. In comparison with the world statistics, the country proportions are lower, while the percentage of population affected is similar. It appears that the intensity varied across all 13 administrative areas.ConclusionCOVID-19 transmission since March 2020 is considered to be widespread, creating excess burden on the public health system, delineated into stages (early infection, rapid spread, declining, stabilizing, and second wave). Control measures are set, stage-wise, without impinging upon normal life but to ensure that the proportion of globally affected persons is lesser than the population share: credit goes to the Ministry of Health. Area-wise spread depends largely on population density and development infrastructure dimensions. Ultimately, the disciplined life in compliance with law and order paved the way for effective program implementation and epidemic control.
Transition and Sustainability of an Online Care Model for People With Parkinson's Disease in Response to the COVID-19 Pandemic
Authors: Ketigian Laura , Piniella Nicholas , McGivney Kaylie , Lui Samantha , Dukat Austin , Jung Min-Kyung , Gallagher Rosemary , Leder Adena 
Published: February 2022

IntroductionCoronaVirus Disease-2019 (COVID-19) led to social distancing and the need for alternative care models. Telehealth programs for people with Parkinson's (PWP) disease may ensure continuity of care. The goal of this observational survey study was to determine the practicability, satisfaction, and barriers to online programs, their relationship to perceived symptoms, mood, and quality of life, and program sustainability beyond the immediate pandemic.MethodsIn-person Parkinson's programs at New York Institute of Technology College of Osteopathic Medicine transitioned online at the start of the pandemic to include Rock Steady Boxing, Support Groups, and Rock Steady Buddies. A custom online survey sent to 150 participants investigated PD history, symptomatology, level of exercise before and during the pandemic, depression (PHQ-9), quality of life (PDQ-39), and practicability and perceived satisfaction related to these online programs. Descriptive statistics were reported.ResultsOf 69 respondents [mean age of 70.2y (SD 8.4 yrs)], &gt;75% were satisfied with the transition to online programs. Consistent attendance and minimal barriers to programs indicated practicability, with increased adherence to exercise. Of 66 completed PHQ-9s, 22.7% had scores ≥9 (moderate to severe depression); of 61 completed PDQ-39s, scores averaged 21.4; better quality of life than national averages for PWP. Self-perceived physical and mental wellbeing were positively affected.ConclusionsResults suggest the transition to online programs met the needs of the Parkinson's community in a practicable and sustainable manner during the pandemic. With COVID-19 still prevalent, the current model of blending synchronous online and in-person classes provides a more flexible, sustainable format compared to in-person alone. Institutions may consider including online components to existing programs to promote continuity of care for aging populations as part of best practices.
Sex Differences in Cardiovascular Risk Associated With Long-Term PM2.5 Exposure: A Systematic Review and Meta-Analysis of Cohort Studies
Authors: Zhang Jia , Wang Xinyan , Yan Mengfan , Shan Anqi , Wang Chao , Yang Xueli , Tang Naijun 
Published: February 2022

BackgroundEstablished evidence suggests risks of developing cardiovascular disease are different by sex. However, it remains unclear whether associations of PM2.5 with cardiovascular risk are comparable between women and men. The meta-analysis aimed to examine sex differences in associations of ischemic heart disease (IHD) and stroke with long-term PM2.5 exposure.MethodsPubMed, EMBASE and Cochrane Library were searched until May 2, 2021. We included cohort studies reporting sex-specific associations of long-term PM2.5 exposure (e.g., ≥1 year) with IHD and stroke. The primary analysis was to estimate relative risk (RR) of PM2.5-outcome in women and men separately, and the additional women-to-men ratio of RR (RRR) was explored to compare sex differences, using random-effect models.ResultsWe identified 25 eligible studies with 3.6 million IHD and 1.3 million stroke cases among 63.7 million participants. A higher level of PM2.5 exposure was significantly associated with increased risk of IHD in both women (RR = 1.21; 95% CI, 1.15–1.27) and men (RR = 1.12; 95% CI, 1.07–1.17). The women-to-men RRR of IHD was 1.05 (95% CI, 1.02–1.08) per 10 μg/m3 increment in PM2.5 exposure, indicating significant excess risk of IHD in women. The significant risks of stroke associated with PM2.5 were obtained in both women (RR = 1.11; 95% CI, 1.08–1.13) and men (RR = 1.11; 95% CI, 1.07–1.14), but no significant women-to-men RRR was observed in stroke (RRR = 1.00; 95% CI, 0.96–1.04).ConclusionsThe study identified excess risk of IHD associated with long-term PM2.5 exposure in women. The findings would not only have repercussions on efforts to precisely evaluate the burden of IHD attributable to PM2.5, but would also provide novel clues for cardiovascular risk prevention accounting for sex-based differences.
Differences in Knowledge, Awareness, Practice, and Health Symptoms in Farmers Who Applied Organophosphates and Pyrethroids on Farms
Authors: Thammachai Ajchamon , Sapbamrer Ratana , Rohitrattana Juthasiri , Tongprasert Siam , Hongsibsong Surat , Wangsan Kampanat 
Published: February 2022

ObjectiveThis cross-sectional study aimed to examine farmers' knowledge, awareness, practices regarding pesticide use, and prevalence of health symptoms related to pesticides exposure among farmers who applied organophosphates (OP) and pyrethroids (PY).MethodsData regarding demographic variables and health symptoms pertinent to pesticide use was collected from 67 farmers who applied OP and 50 farmers who applied PY using interviews from January to March 2021.ResultsThe farmers who applied OP had lower knowledge, awareness, and prevention practices regarding pesticide use than those who applied PY. After adjustment of covariate variables, the farmers who applied OP had a significantly higher prevalence of respiratory conditions (OR = 8.29 for chest pain, OR = 6.98 for chest tightness, OR = 27.54 for dry throat, and OR = 5.91 for cough), neurological symptoms (OR = 10.62 for fatigue and OR = 6.76 for paresthesia), and neurobehavioral symptoms (OR = 13.84 for poor concentration, OR = 3.75 for short term memory, and OR = 8.99 for insomnia) related to pesticide exposure than those who applied PY.ConclusionOur findings suggest that OP had a more adverse effect on human health than PY, resulting in a higher prevalence of pesticide-related symptoms. The outcomes of this study have the benefit of providing vital information for all stakeholders with regard to the implementation of safe practices in the utilization of personal protective equipment (PPE) and pesticide use in a health intervention and health promotion program.
Considerations for Meeting Students' Mental Health Needs at a U.S. University During the COVID-19 Pandemic: A Qualitative Study
Authors: Kaur Jessalyn , Chow Eva , Ravenhurst Johanna , Snyder Teah , Pennell Sheila , Lover Andrew A. , Goff Sarah L. 
Published: February 2022

ObjectiveTo better understand the potential ongoing effects of the COVID-19 pandemic on U.S. university students' mental health and to generate hypotheses as to how universities may best meet students' mental health needs.ParticipantsStudents at a large public university in the United States.MethodsStudents were invited via email to participate in either interviews or focus groups regarding their COVID-19 pandemic experiences, including mental health impacts. Recruitment took place in two waves. Sessions were led by student members of the research team and took place via video conference between December 2020 and June 2021. Interviews were audio-recorded and transcribed via Zoom and manually edited and de-identified by the research team. Interview data were analyzed deductively and inductively using a modified grounded theory approach.ResultsA total of 40 undergraduate and graduate students took part in the study. Major themes included: (1) Overall impact of the pandemic on mental health; (2) Sources of pandemic stress/mental health impacts; (3) Subsequent coping strategies; and (4) Suggestions for improving university support for student mental health. Subthemes were identified within each major theme. Students reported substantial anxiety and other mental health impacts and felt improvements in communication and access to mental health resources could better support students.ConclusionsThis study provides context for the ways in which the COVID-19 pandemic may be continuing to impact mental health in a north-American university setting and identifies suggestions for potential interventions that future studies may test for effectiveness.
Rotational Rest Frequencies and First Astronomical Search of Protonated Methylamine
Authors: Schmid Philipp C. , Thorwirth Sven , Endres Christian P. , Töpfer Matthias , Sánchez-Monge Álvaro , Schwörer Andreas , Schilke Peter , Schlemmer Stephan , Asvany Oskar 
Published: February 2022

We report first laboratory rest frequencies for rotational transitions of protonated methylamine, CH3NH3+, measured in a cryogenic 22-pole ion trap machine and employing an action spectroscopy scheme. For this prolate symmetric top molecule thirteen transitions between 80 and 240 GHz were detected in the ground vibrational state, covering JK = 2K − 1K up to JK = 6K − 5K with K = 0, 1, 2. Some transitions exhibit noticeable structure that is attributed to internal rotation splitting. As the CN radical and several of its hydrogenated and protonated forms up to methylamine, CH3NH2, are well known entities in the laboratory and in space, protonated methylamine, CH3NH3+, is a promising candidate for future radio astronomical detection.