bluuebunny/crossref_metadata_2025_split huggingface dataset:
ZFHX3variants cause childhood partial epilepsy and infantile spasms with favorable outcomes
Authors: He Ming-Feng , Liu Li-Hong , Luo Sheng , Wang Juan , Guo Jia-Jun , Wang Peng-Yu , Zhai Qiong-Xiang , He Su-Li , Zou Dong-Fang , Liu Xiao-Rong , Li Bing-Mei , Ma Hai-Yan , Qiao Jing-Da , Zhou Peng , He Na , Yi Yong-Hong , Liao Wei-Ping 
Published: July 2023

ABSTRACTBackgroundTheZFHX3gene plays vital roles in embryonic development, cell proliferation, neuronal differentiation, and neuronal death. This study aims to explore the relationship betweenZFHX3variants and epilepsy.MethodsWhole-exome sequencing was performed in a cohort of 378 patients with partial (focal) epilepsy. ADrosophila Zfh2knockdown model was used to validate the association betweenZFHX3and epilepsy.ResultsCompound heterozygousZFHX3variants were identified in eight unrelated cases. The burden ofZFHX3variants was significantly higher in the case cohort, shown by multiple/specific statistical analyses. InZfh2knockdown flies, the incidence and duration of seizure-like behavior were significantly greater than those in the controls. TheZfh2knockdown flies exhibited more firing in excitatory neurons. All patients presented partial seizures. The five patients with variants in the C-terminus/N-terminus presented mild partial epilepsy. The other three patients included one who experienced frequent nonconvulsive status epilepticus and two who had early spasms. These three patients had also neurodevelopmental abnormalities and were diagnosed as developmental epileptic encephalopathy (DEE), but achieved seizure-free after antiepileptic-drug treatment without adrenocorticotropic-hormone/steroids. The analyses of temporal expression (genetic dependent stages) indicated thatZFHX3orthologs were highly expressed in the embryonic stage and decreased dramatically after birth.ConclusionZFHX3is a novel causative gene of childhood partial epilepsy and DEE. The patients of infantile spasms achieved seizure-free after treatment without adrenocorticotropic-hormone/steroids implies a significance of genetic diagnosis in precise treatment. The genetic dependent stage provided an insight into the underlying mechanism of the evolutional course of illness.WHAT IS ALREADY KNOWN ON THIS TOPICThe ZFHX3 protein plays an essential role in neurodevelopment. The relationship betweenZFHX3variants and human diseases remains unknown.WHAT THIS STUDY ADDSEight pairs of compound heterozygousZFHX3variants were identified in eight unrelated patients with partial epilepsy, including two who evolved from early spasms.HOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICYTheZFHX3gene is a novel pathogenic gene of childhood partial epilepsy and developmental epileptic encephalopathy. The development-dependent expression pattern ofZFHX3explains the evolutional course of the illness, potentially being helpful in the management of the patients.
A systematic review of information source preference research
Authors: Zhong Huan , Han Zhengbiao 
Published: July 2023

PurposeThis systematic literature review aims to elaborate on the research progress and features of information source preferences to help other researchers attain a more comprehensive understanding of the field.Design/methodology/approachFollowing a systematic review protocol, 139 research articles from 11 academic databases were analyzed.FindingsOverall, five separate results were obtained: first, information source horizon theory is the main theoretical foundation of information source preferences research, while other theories have been applied less. Second, information source preference research has strong context sensitivity and involves health, work, consumption, learning, survival and development and emergencies. Third, preference criteria can be summarized into three categories: information characteristics, user characteristics, needs characteristics and corresponding specific criteria. Fourth, information source preferences are influenced by both internal and external factors, including five specific aspects, namely demographics, the user's cognition, the user's affection, capital and contextual factors. Fifth, this field is dominated by quantitative methods and an information horizon mapping method could be applied more.Originality/valueThis study is the first to reveal the general picture of information source preferences. It also elaborates on the characteristics of this field and presents potential development directions.
A systematic literature review of studies on women at the top of firm hierarchies: critique, gap analysis and future research directions
Authors: Ciappei Camilla , Liberatore Giovanni , Manetti Giacomo 
Published: July 2023

Purpose
This study aims to holistically explore the academic literature on female leaders to identify the key topics and dynamics of the field.

Design/methodology/approach
The authors systematically review 532 papers to explore the research on female leaders; based on objective and replicable criteria, the authors identify relevant papers and thus ensure the quality of the analysis. The bibliometric analysis and visualization support us in recognizing trends in this topic.

Findings
This study outlines the state of the art over the past decade by synthesizing theoretical contexts and critically discussing the main streams of research on sustainability, firm outcomes and barriers preventing women from reaching the upper echelons. The authors also explore empirical issues and highlight areas that entail new paths for future scholars.

Practical implications
The research provides novel evidence of the attempt internationally to increase female participation at the top of the firm hierarchy by analyzing firm outcomes, sustainability and the constraints faced by women in achieving these careers.

Social implications
The results show that the participation of women in leadership roles is not (only) a matter of compliance with current regulations. Through their ability to monitor key social and environmental issues from a long-term perspective and their attention to the internal control systems, companies more effectively pursue their financial and nonfinancial aims.

Originality/value
Using bibliographic and narrative analyses, this study reviews the literature on women at the top of the firm hierarchy with a focus on business research. The authors extend prior studies by investigating a larger pool of firm roles to provide a comprehensive understanding of this widely discussed topic.
Investigation of haematological, inflammatory and immunological response in naturally infected cattle with Theileria annulata
Authors: Aktas Mustafa Sinan , Eren Emre , Kucukler Sefa , Eroglu Muhammed Sertac , Ilgun Murat , Yanar Kerim Emre , Aydin Omer 
Published: July 2023

AbstractIn this study, we aimed to investigate haematological, pro‐inflammatory, inflammatory, anti‐inflammatory and immunological responses in naturally Theileria annulata‐infected cattle. The study material consisted of 25 Simmental cattle, 2–4 years of age, one of which was a control group consisting of healthy animals (Control group, n = 10), and the other was a Theileria group that include animals positive for Theileria annulata (Theileria group, n = 15). Haematological analysis (red blood cell [RBC], haemoglobin [HGB], haematocrit [HCT]), pro‐inflammatory (tumour necrosis factor‐α [TNF‐α], nuclear factor kappa B [NF‐ĸB] and interleukin‐1 beta, [IL‐1β]), inflammatory (neutrophil‐lymphocyte ratio [NLR]), anti‐inflammatory (interleukin‐10 [IL‐10]) and antimicrobial peptide (CAMP) analyses were performed by using ELISA kit from blood samples. It was found that the rectal temperature of the Theileria group was found to be significantly higher (p < .001) than that of the control group. Haematological and biochemical analysis revealed that the RBC and HGB count and HCT percentage decreased (p < .001), while NF‐ĸB (p < .001), TNF‐α (p = .002), IL‐1β (p < .001), IL‐10 (p = .012), NLR (p < .001) and CAMP (p = .037) levels increased in Theileria group compared to the control group. There was a strong correlation between NF‐ĸB and TNF‐α, NF‐ĸB and IL‐10, NLR and IL‐1β, NF‐ĸB and CAMP, TNF‐α and CAMP and IL‐10 and CAMP. As a result of this study, it was revealed that a pro‐inflammatory and immunological response also occurs along with the anti‐inflammatory response in the inflammatory process.
Genetic variants associated with leaf spot disease resistance in oil palm (Elaeis guineensis): A genome‐wide association study
Authors: Wibowo Cahyo S. , Apriyanto Ardha , Ernawan Reza , Neing Dionisius , Susilo Ricki , Cordell Heather J. , Gatehouse Angharad M. R. , Edwards Martin G. 
Published: July 2023

AbstractLeaf spot is considered as a common disease of oil palm, caused primarily by Curvularia spp. fungi. This disease mainly affects the early stages of oil palm and if not adequately controlled can cause plant death. Among the methods available to control the disease, breeding resistant varieties is the most economically effective and promising strategy. A genome‐wide association study for leaf spot resistance was conducted on 210 individual tenera palms from seven different (origin) crosses. These palms were subsequently infected with Curvularia spp. pathogenic inoculum in a nursery trial located in an endemic area. The area under the disease progress curve was used as a phenotypic measure. In addition, a genotyping‐by‐sequencing (GBS) approach was used to obtain the genotyping data of each individual. We found two loci, at chromosome 2 and chromosome 13, that were significantly associated with leaf spot disease resistance. Six genetic variants at the two loci (five variants at chromosome 2 and one variant at chromosome 13) surpassed the threshold for genome‐wide significance (p < 106). These loci are linked with three widely known disease‐related genes, namely, resistance gene analogue 3 (RGA3), resistance gene analogue 4 (RGA4) and receptor‐like protein 9a (RLP9a). The loci identified here can be used for marker‐assisted selection when developing leaf spot disease‐resistant oil palm varieties.
Measurement properties of the Spinal Appearance Questionnaire in adolescents with idiopathic scoliosis: a systematic review
Authors: Malaquias Lorenna Costa , da Silva Maria Clara Monteiro , Menezes Dhara Yasmin Andrade , Magalhães Maurício Oliveira 
Published: July 2023

Abstract
Background
Scoliosis is defined as a three-dimensional deformity of the spine characterized by lateral tilt and axial rotation of the vertebrae. Its magnitude in the frontal plane is identified by a Cobb angle greater than 10o. The aim of the study was to systematically examine the clinimetric properties of the Spinal Appearance Questionnaire (SAQ) in its cross-cultural adaptations in different languages.

Methods
Medline (PubMed), CINAHL, EMBASE, Science Direct, PsycINFO and WorldWideScience.org databases were used for screening studies until July 16, 2022. In this study, records on the development, evaluation and translation of the SAQ instrument in adolescents with idiopathic scoliosis were included. In addition, two independent reviewers defined whether the studies were eligible and analyzed their psychometric properties of internal consistency, reliability, content validity, cross-cultural validity, construct validity and structural validity, according to the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN). The modified GRADE was applied for evidence synthesis.

Results
A total of 95 articles were selected by title and abstract. After removing duplicates and reading and searching the references, a total of 13 studies were included in this review. The original version of the SAQ was described in English, and the instrument was translated into Polish, Canadian French, Simplified Chinese, Spanish (Europe), Danish, Traditional Chinese, Portuguese (Brazil), Korean, German, Turkish and Persian. The evidence was moderate for construct validity, low for internal consistency, and very low for reliability and cross-cultural validity; the content and structural validity properties did not present minimum data for classification.

Conclusion
The quality of the evidence regarding the clinimetric properties of the SAQ instrument in adolescents with idiopathic scoliosis was low due to the absence of clinimetric properties or dubious methodological quality. However, for clinical practice and research, we recommend the use of the instrument to assess the self-perception of the spine in adolescents. For future translations and adaptations, we recommend the use of the COSMIN guidelines.
Postoperative analgesia for upper gastrointestinal surgery: a retrospective cohort analysis
Authors: Pirie Katrina P. , Wang Andy , Yu Joanna , Teng Bao , Doane Matthew A. , Myles Paul S. , Riedel Bernhard 
Published: July 2023

Abstract
Background
Thoracic epidural analgesia is commonly used for upper gastrointestinal surgery. Intrathecal morphine is an appealing opioid-sparing non-epidural analgesic option, especially for laparoscopic gastrointestinal surgery.

Methods
Following ethics committee approval, we extracted data from the electronic medical records of patients at Royal North Shore Hospital (Sydney, Australia) that had upper gastrointestinal surgery between November 2015 and October 2020. Postoperative morphine consumption and pain scores were modelled with a Bayesian mixed effect model.

Results
A total of 427 patients were identified who underwent open (n = 300), laparoscopic (n = 120) or laparoscopic converted to open (n = 7) upper gastrointestinal surgery. The majority of patients undergoing open surgery received a neuraxial technique (thoracic epidural [58%, n = 174]; intrathecal morphine [21%, n = 63]) compared to a minority in laparoscopic approaches (thoracic epidural [3%, n = 4]; intrathecal morphine [12%, n = 14]). Intrathecal morphine was superior over non-neuraxial analgesia in terms of lower median oral morphine equivalent consumption and higher probability of adequate pain control; however, this effect was not sustained beyond postoperative day 2. Thoracic epidural analgesia was superior to both intrathecal and non-neuraxial analgesia options for both primary outcomes, but at the expense of higher rates of postoperative hypotension (60%, n = 113) and substantial technique failure rates (32%).

Conclusions
We found that thoracic epidural analgesia was superior to intrathecal morphine, and intrathecal morphine was superior to non-neuraxial analgesia, in terms of reduced postoperative morphine requirements and the probability of adequate pain control in patients who underwent upper gastrointestinal surgery. However, the benefits of thoracic epidural analgesia and intrathecal morphine were not sustained across all time periods regarding control of pain. The study is limited by its retrospective design, heterogenous group of upper gastrointestinal surgeries and confounding by indication.
Stigmatization and Self-Perception regarding issues related to Mental Health: A qualitative survey from a lower and middle-income country
Authors: Ikhtiar Khan Shaffaque , Irfan Muhammad 
Published: July 2023

Objective: To assess the understanding of the patients with common mental disorders, towards issues related to their mental health.
Methods: This qualitative study was conducted from December 2018 to April 2020. Thirty-four patients, suffering from common mental disorders, were interviewed in public and private sector hospitals of Peshawar. The interviews were recorded, transcribed, translated into English, and themes were generated from their responses. Content analysis was carried out on the data obtained. The themes resulting from each interview were then further comparatively analyzed.
Results: The mean age of the sample was 31.9±10.61 years. Most of the patients (n=24, 70.6%) were aware that the nature of their illness was a psychological one with a majority (n=17, 50%) describing it with the symptoms of headache or burden on the head. Most of the patients (n=14, 41.1%) were unaware of the general public opinion towards mental disorders but those who were aware described these with stigmatizing descriptions e.g., “people call them crazy” etc. Most of the patients (n=20, 58.8%) were unaware about their own opinion regarding their illness and some said that they tried to conceal their illness from others. Unfortunately, most of the patients (n=19, 55.8%) were not aware of mental healthcare professionals or the existence of psychiatry as a profession.
Conclusion: Stigma, both public and personal, was quite high, which caused patients to feel compelled to conceal their illness. There was also a general lack of knowledge with regard to mental disorders in our society. The general public opinion about mental health professionals was not favorable.
doi: https://doi.org/10.12669/pjms.39.5.7487
How to cite this: Khan SI, Irfan M. Stigmatization and Self-Perception regarding issues related to Mental Health: A qualitative survey from a lower and middle-income country. Pak J Med Sci. 2023;39(5):---------. doi: https://doi.org/10.12669/pjms.39.5.7487
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Satiation in Fisher Markets and Approximation of Nash Social Welfare
Authors: Garg Jugal , Hoefer Martin , Mehlhorn Kurt 
Published: July 2023

We study linear Fisher markets with satiation. In these markets, sellers have earning limits, and buyers have utility limits. Beyond applications in economics, they arise in the context of maximizing Nash social welfare when allocating indivisible items to agents. In contrast to markets with either earning or utility limits, markets with both limits have not been studied before. They turn out to have fundamentally different properties. In general, the existence of competitive equilibria is not guaranteed. We identify a natural property of markets (termed money clearing) that implies existence. We show that the set of equilibria is not always convex, answering a question posed in the literature. We design an FPTAS to compute an approximate equilibrium and prove that the problem of computing an exact equilibrium lies in the complexity class continuous local search ([Formula: see text]; i.e., the intersection of polynomial local search ([Formula: see text]) and polynomial parity arguments on directed graphs ([Formula: see text])). For a constant number of buyers or goods, we give a polynomial-time algorithm to compute an exact equilibrium. We show how (approximate) equilibria can be rounded and provide the first constant-factor approximation algorithm (with a factor of 2.404) for maximizing Nash social welfare when agents have capped linear (also known as budget-additive) valuations. Finally, we significantly improve the approximation hardness for additive valuations to [Formula: see text]. Funding: J. Garg was supported by the National Science Foundation [Grant CCF-1942321 (CAREER)]. M. Hoefer was supported by Deutsche Forschungsgemeinschaft [Grants Ho 3831/5-1, Ho 3831/6-1, and Ho 3831/7-1].
infância em relações entre avós e netos: vínculo, amor e potência de vida
Authors: Castro Liana Garcia 
Published: July 2023

This article, based on grandparents' narratives collected in a doctoral research project, aims to weave together reflections on childhood, intergenerational bonding, and love. Seven grandmothers and three grandfathers, between fifty-one and seventy-one years old, participated in the research; nine residents of the city of Rio de Janeiro and one of Niterói, Brazil. In addition, narratives were collected from six of their grandchildren, all of them between five and twelve years old, and residents of Rio de Janeiro, Niterói, Brasília and Montevideo, Uruguay. Conducted during the Covid-19 pandemic, our methodological strategy involved interviews conducted on Zoom. Interviews with the adults were conducted individually, and collectively with the children. The themes that emerged in the grandparents' narratives led to reflections on the relationship between adults and children that are emblematic of the conception of childhood found in Walter Benjamin's work, as well as the philosophical anthropology of Martin Buber and the psychoanalysis of Donald Winnicott. The emphasis of the research participants was on affective security, built on the basis of small, everyday gestures, which result in an atmosphere of mutual support between children and adults. From these affectionate encounters between the youngest and the oldest, what we characterize as a “childlike force” is established—an energy field that produces new existential possibilities. The narratives collected here teach us new ways of being adult through our relationships with children: in our encounter with the lifeworlds of the youngest among us, we re-encounter our own deeper sensibilities, and regain the ability to play, to create, and to reinvent ourselves in relearning the joy of beginnings.
The Rising Costs of Alcohol-Associated Liver Disease in the United States
Authors: Julien Jovan , Ayer Turgay , Tapper Elliot B. , Chhatwal Jagpreet 
Published: July 2023

INTRODUCTION:Alcohol-associated liver disease (ALD) is rising in the United States because of an increase in high-risk drinking, but population-level ALD cost is unknown. Our aim was to project the direct and indirect costs associated with ALD in the US population through 2040.METHODS:We used a previously validated microsimulation model of alcohol consumption and ALD with model parameters estimated from publicly available data sources, including the National Epidemiologic Survey Alcohol and Related Conditions-III, the Center for Disease Control and Prevention Wide-ranging Online Data for Epidemiologic Research, the Bureau of Labor Statistics, and published studies informing the impact of alcohol consumption on ALD severity in the United States resident population. The simulated scenario included current and projected ALD-associated costs.RESULTS:From 2022 to 2040, the ALD is projected to cost $880 billion, $355 billion in direct healthcare-related costs, and $525 billion in lost labor and economic consumption. The annual cost of ALD is projected to increase from $31 billion in 2022 to $66 billion (118% increase) in 2040. Although the female population makes up 29% of these costs in 2022, by 2040 on a per annum basis, female costs would be 43% of the total annual expenditure.DISCUSSION:Increased consumption of alcohol in the US population, especially in females, will cause a steep rise in the economic burden of ALD in the United States. These findings highlight the need for planners and policymakers to plan for the increased impact of liver disease in the United States.