bluuebunny/crossref_metadata_2025_split huggingface dataset:
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
Authors: Li Xue-Lian , Li Zong-Jun , Liang Xiao-Yu , Liu De-Tian , Jiang Mi , Gao Liang-Di , Li Huan , Tang Xue-Qing , Shi Yi-Wu , Li Bing-Mei , He Na , Li Bin , Bian Wen-Jun , Yi Yong-Hong , Cheng Chuan-Fang , Wang Jie 
Published: May 2022

PurposePreviously, mutations in the voltage-gated calcium channel subunit alpha1 A (CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2. To determine the relationship between CACNA1A and epilepsies and the role of molecular sub-regional on the phenotypic heterogeneity.MethodsTrio-based whole-exome sequencing was performed in 318 cases with partial epilepsy and 150 cases with generalized epilepsy. We then reviewed all previously reported CACNA1A mutations and analyzed the genotype-phenotype correlations with molecular sub-regional implications.ResultsWe identified 12 CACNA1A mutations in ten unrelated cases of epilepsy, including four de novo null mutations (c.2963_2964insG/p.Gly989Argfs*78, c.3089 + 1G &gt; A, c.4755 + 1G &gt; T, and c.6340-1G &gt; A), four de novo missense mutations (c.203G &gt; T/p.Arg68Leu, c.3965G &gt; A/p.Gly1322Glu, c.5032C &gt; T/p.Arg1678Cys, and c.5393C &gt; T/p.Ser1798Leu), and two pairs of compound heterozygous missense mutations (c.4891A &gt; G/p.Ile1631Val&amp; c.5978C &gt; T/p.Pro1993Leu and c.3233C &gt; T/p.Ser1078Leu&amp;c.6061G &gt; A/p.Glu2021Lys). The eight de novo mutations were evaluated as pathogenic or likely pathogenic mutations according to the criteria of American College of Medical Genetics and Genomics (ACMG). The frequencies of the compound heterozygous CACNA1A mutations identified in this cohort were significantly higher than that in the controls of East Asian and all populations (P = 7.30 × 10–4, P = 2.53 × 10–4). All of the ten cases were ultimately seizure-free after antiepileptic treatment, although frequent epileptic seizures were observed in four cases. Further analysis revealed that episodic ataxia type 2 (EA2) had a tendency of higher frequency of null mutations than epilepsies. The missense mutations in severe epileptic phenotypes were more frequently located in the pore region than those in milder epileptic phenotypes (P = 1.67 × 10–4); de novo mutations in the epilepsy with intellectual disability (ID) had a higher percentage than those in the epilepsy without ID (P = 1.92 × 10–3).ConclusionThis study suggested that CACNA1A mutations were potentially associated with pure epilepsy and the spectrum of epileptic phenotypes potentially ranged from the mild form of epilepsies such as absence epilepsy or partial epilepsy, to the severe form of developmental epileptic encephalopathy. The clinical phenotypes variability is potentially associated with the molecular sub-regional of the mutations.
Comparison of DNA Methylation Changes Between the Gestation Period and the After-Delivery State: A Pilot Study of 10 Women
Authors: Lin Ming-Wei , Tsai Mong-Hsun , Shih Ching-Yu , Tai Yi-Yun , Lee Chien-Nan , Lin Shin-Yu 
Published: May 2022

BackgroundGestational adaptation occurs soon after fertilization and continues throughout pregnancy, whereas women return to a pre-pregnancy state after delivery and lactation. However, little is known about the role of DNA methylation in fine-tuning maternal physiology. Understanding the changes in DNA methylation during pregnancy is the first step in clarifying the association of diet, nutrition, and thromboembolism with the changes in DNA methylation. In this study, we investigated whether and how the DNA methylation pattern changes in the three trimesters and after delivery in ten uncomplicated pregnancies.ResultsDNA methylation was measured using a Human MethylationEPIC BeadChip. There were 14,018 cytosine-guanine dinucleotide (CpG) sites with statistically significant changes in DNA methylation over the four time periods (p &lt;
0.001). Overall, DNA methylation after delivery was higher than that of the three trimesters (p &lt; 0.001), with the protein ubiquitination pathway being the top canonical pathway involved. We classified the CpG sites into nine groups according to the changes in the three trimesters and found that 38.37% of CpG sites had DNA methylation changes during pregnancy, especially between the first and second trimesters.ConclusionDNA methylation pattern changes between trimesters, indicating possible involvement in maternal adaptation to pregnancy. Meanwhile, DNA methylation patterns during pregnancy and in the postpartum period were different, implying that puerperium repair may also function through DNA methylation mechanisms.
Sepsis Disrupts Mitochondrial Function and Diaphragm Morphology
Authors: Oliveira Thamires Siqueira , Santos Anderson Teixeira , Andrade Cherley Borba Vieira , Silva Johnatas Dutra , Blanco Natália , Rocha Nazareth de Novaes , Woyames Juliana , Silva Pedro Leme , Rocco Patricia Rieken Macedo , da-Silva Wagner Seixas , Ortiga-Carvalho Tânia Maria , Bloise Flavia Fonseca 
Published: May 2022

Graphical AbstractSeptic diaphragm has impaired morphology and increased thickness that seems to be associated, at least in part, with decreased mitochondrial function related to reducing in Pgc1α expression, ATP production, mitochondrial number, and quality in the CLP mice compared with the control group.
Thickened Retinal Nerve Fiber Layers Associated With High-Altitude Headache
Authors: Yin Xianhong , Li Yi , Ma Yanyun , Xie Yuan , Wang Kun , Sun Dayan , Liu Xiaoyu , Hao Meng , Liang Meng , Zhang Shixuan , Guo Yuan , Jin Li , Wang Ningli , Wang Jiucun 
Published: May 2022

Purpose: This study aimed to quantify the different quadrants of the optic nerve head (ONH) and macular parameters and their changes during exposure to high altitude, and to assess their correlation with high-altitude headache (HAH).Methods: Spectral-domain optical coherence tomography (OCT) was used to quantify changes in the retinal structure in 109 healthy subjects during acute exposure to high altitude (3,700 m). Self-reported symptoms of HAH and acute mountain sickness AMS were assessed using Lake Louise Score (LLS), alongside measurements of physiological parameters (oxygen saturation [SpO2], heart rate [HR], hemoglobin level [Hb], and red blood cell [RBC] count). Measurements were taken before and after exposure to the high-altitude environment. The correlations of these parameters and changes at ONH were examined.Results: With the exposure to high altitude, the incidence of AMS was 44.0% and the frequency of HAH was 67.0% (54.1% mild, 12.9% moderate-severe). As for systemic parameters measured at high altitude, the participants exhibited significantly lower SpO2, higher resting HR, higher Hb, and a higher RBC (all p &lt; 0.05). Key stereometric parameters used to describe ONH [superior, inferior, nasal, temporal, and mean retinal nerve fiber layer (RNFL) thickness] and macula (macular thickness) increased at high altitude compared with baseline. Most parameters of ONH changed, especially superior, inferior, and mean RNFL thickness (p &lt; 0.05). There was a significant correlation between the ratios of RNFL at ONH and HAH [mean thickness (r = 0.246, p = 0.01); inferior (r = 0.216, p = 0.02); nasal (r = 0.193, p = 0.04)]. No associations between parameters of ONH and AMS or LLS were observed.Conclusion: The high-altitude environment can increase RNFL thickness at ONH. Furthermore, we found that the ratios of mean thickness, inferior area, and nasal area correlated positively with HAH, which provides new insights for understanding of the underlying pathological mechanisms of high-altitude retinopathy (HAR).
Psychometric Properties of the Stress and Anxiety to Viral Epidemics-6 Items (SAVE-6) Scale for High School Students During the COVID-19 Pandemic
Authors: Lee Taeyeop , Ahmed Oli , Akça Ömer Faruk , Chung Seockhoon 
Published: May 2022

ObjectivesOwing to the COVID-19 pandemic, high school students have experienced a sudden change of school environment, which may result in difficulties related to mental health. The aim of this study is to estimate the reliability and validity of the Stress and Anxiety to Viral Epidemics-6 Items (SAVE-6) scale among high school students.MethodsA cross-sectional online survey was conducted among 300 high school students. The following scales were administered: the SAVE-6, Generalized Anxiety Disorder-7 Items (GAD-7), and Patient Health Questionnaire-9 Items (PHQ-9). Exploratory factor analysis (EFA) and confirmatory factor analysis (CFA) were conducted, and the psychometric properties of the SAVE-6 were assessed.ResultsThe results of the CFA indicated good model fit for the SAVE-6 scale among high school students (χ2/df = 0.485, CFI = 1.000, TLI = 1.010, RMSEA &lt; 0.001, and SRMR = 0.029). In addition, the SAVE-6 scale demonstrated good reliability (Cronbach’s alpha = 0.844, McDonald’s Omega = 0.848, and split-half reliability = 0.883). The appropriate cut-off score for the SAVE-6 scale was estimated as ≥15, which corresponds to a mild level of anxiety as assessed by the GAD-7 (≥5).ConclusionThe SAVE-6 scale was found to be reliable and valid, and can be used as a tool to assess the stress and anxiety of high school students during the COVID-19 pandemic.
Periocular Skin Warming Promotes Sleep Onset Through Heat Dissipation From Distal Skin in Patients With Insomnia Disorder
Authors: Ichiba Tomohisa , Kawamura Aoi , Nagao Kentaro , Kurumai Yuichi , Fujii Akio , Yoshimura Atsushi , Yoshiike Takuya , Kuriyama Kenichi 
Published: May 2022

Study ObjectivesPeriocular skin warming before bedtime has been demonstrated to improve subjective sleep initiation in healthy adults with sleep difficulties scored six or higher in the Pittsburgh Sleep Questionnaire Index. This study aimed to investigate the effects of periocular skin warming on sleep initiation and thermoregulation processes in patients with insomnia disorder.MethodsParticipants included those with sleep difficulty (n = 22) and those with insomnia disorder (n = 16). Individuals from both groups were assessed at baseline (habitual sleep-wake schedule) and after two intervention conditions (use of a warming eye mask or a sham eye mask before habitual bedtime). The subjective and electroencephalographic sleep onset latency, along with proximal and distal skin temperature after periocular skin warming, were evaluated.ResultsPeriocular skin warming reduced objective sleep onset latency in independently of the group. Foot temperature and foot-proximal temperature gradient after getting into bed increased with periocular skin warming in independently of the group. However, the increase in hand temperature was observed only in the insomnia disorder group. Periocular skin warming also increased the normalized high frequency component of heart rate variability in independently of the group. The reduction of objective sleep onset latency was strongly associated with heat dissipation from the foot skin region.ConclusionThese results suggest that periocular skin warming promotes sleep initiation by enhancing heat dissipation from the distal skin regions in individuals with sleep difficulty and insomnia disorder. Periocular skin warming could thus be a novel non-pharmacological therapy for insomnia disorder.
Prevalence and Factors Associated With Suicidal Ideation Among Adult Eritrean Refugees in Northern Ethiopia
Authors: Gebremeskel Teferi Gebru , Berhe Mulaw , Tesfahunegn Tadis Brhane , Gesesew Hailay Abrha , Ward Paul R. 
Published: May 2022

BackgroundThe present study assessed the prevalence of and factor associated with suicidal ideations among adult Eritrean refugees in Tigray, Ethiopia.MethodsA community-based cross-sectional study was carried out among 400 adult refugees living in the Mai-Aini refugee camp in Tigray, Northern Ethiopia from September 2019 to May 2020. The response variable was suicidal ideation and was measured using World Mental Health (WMH) Survey Initiative Version of the World Health Organization Composite International Diagnostic Interview. We applied bivariate and multivariate logistic regression to determine predictors for suicide ideations. Odds ratios and p-values were determined to check the associations between variables, and a p-value &lt;0.05 was considered as a cut-off for statistical significance.ResultsThe prevalence of suicidal ideations was 20.5% (95% CI: 16.4%, 24.5%). Having previous history of trauma [AOR = 2.3, 95% CI: 1.4, 4.5], a history of chronic illness [AOR = 2.9, 95% CI: 1.3, 6.5], a family history of mental disorder [AOR = 3.08, 95% CI: 1.3, 7.06], and history of post-traumatic stress disorder [AOR = 5.7, 95% CI: 2.8, 11.5] were significantly associated with suicidal ideations.ConclusionsThis study showed that during the stay in the refugee camp, there was a high prevalence of suicide ideations compared to the prevalence of suicide ideations among the general populations of Ethiopia, Europe, and China, and the lifetime pooled prevalence across 17 countries. Having previous history of trauma, a history of chronic illness, a family history of mental disorder, and history of post-traumatic stress disorder were the factors statistically associated with the suicidal ideation.
Effects of Family Doctor Contract Services on the Health-Related Quality of Life Among Individuals With Diabetes in China: Evidence From the CHARLS
Authors: Wang Lingjie , Liu Wenbin 
Published: May 2022

BackgroundFamily doctor contract services (FDCS) has played a key role in diabetes management in China since 2016. The influence of FDCS on the physiological indexes of individuals with diabetes has been examined. However, little attention has been paid to its effect on the Health-Related Quality of Life (HRQoL). This study aims to fill this knowledge gap by evaluating the effect of FDCS on the HRQoL of individuals with diabetes.MethodsWe identified 382 individuals with diabetes receiving all follow-up surveys in 2013, 2015, and 2018 from the China Health and Retirement Longitudinal Study (CHARLS). The HRQoL of the included individuals was estimated using results from the Short Form 36 (SF-36) questionnaire. The propensity score matching with the difference-in-differences (PSM-DID) approach was applied to quantify the effect of FDCS on the HRQoL among individuals with diabetes. A robust test was performed by setting the 2015 data as the treatment group for the placebo test.ResultsThe mean score of role-emotional (RE) increased from 54.25 to 61.63 among those who signed up to receive FDCS, while the corresponding score decreased from 57.77 to 51.04 among those who did not receive FDCS. Results from the regression analysis indicated that the use of FDCS was associated with significant improvement in RE (+14.10, p = 0.04) among individuals with diabetes. We did not find a statistically meaningful association between the FDCS and any of the other HRQoL domains: physical functioning (PF), role-physical (RP), bodily pain (BP), general health (GH), vitality (VT), social functioning (SF), and mental health (MH), respectively. The robustness analysis of the model indicated that the results were robust.ConclusionThe FDCS for diabetes in China was associated with a significant improvement in RE. Due to a limited time since the launch of FDCS (i.e., 2016), the recipient's physical health did not show marked improvement. In the future, FDCS should pay more attention to the physiological health of individuals with diabetes. Moreover, psychological services also need to be maintained and not slackened. At the same time, it is strongly recommended to pay more attention to the HRQoL of individuals with diabetes and more comprehensive health.
The Impact of Dependency Burden on Urban Household Health Expenditure and Its Regional Heterogeneity in China: Based on Quantile Regression Method
Authors: Xu Xiaocang , Wang Qingqing , Li Chang 
Published: May 2022

BackgroundThe aging population has led to a growing health expenditure burden. According to the National Bureau of Statistics of China, the old-age dependency ratio rose from 10.7% in 2003 to 17.8% in 2019, and health expenditure increased from 658.410 billion yuan in 2003 to 5812.191 billion yuan in 2019 in China.MethodsThis paper utilizes the quantile regression method to discuss the influencing factors of health expenditure in urban China based on the China Household Finance Survey (CHFS), especially dependency burden. Moreover, its regional heterogeneity is also compared.ResultsThe old-age dependency ratio, age, family size, self-rated health status, and income significantly impact the health expenditure of urban families in the quantile regression of the national sample. Dependency burden and other variables on urban household health expenditure have great regional heterogeneity. The relationship between urban health expenditure and residential areas in western China is more stable than that in eastern and central China.DiscussionGovernment should improve the healthcare system suitable for the older adult population as soon as possible. The government of western China should pay more attention to the introduction of professional medical talents and the configuration of precision medical equipment to improve the health system in western China.
Top 100 Most-Cited Articles on Enhanced Recovery After Surgery: A Bibliometric Analysis and Visualized Study
Authors: He Liping , Lu Lulu , Su Shengjie , Lin Qiang , Sheng Chan 
Published: May 2022

BackgroundThe enhanced recovery after surgery (ERAS) protocol is widely implemented in surgeries, and this study aims to reveal the characteristics of the 100 most-cited original articles in the field of ERAS research.MethodsThe literature was retrieved in the Web of Science database, the 100 most-cited original articles were identified, and their characteristics were analyzed, including the trends of publications and citations; contributions from countries, institutions, and authors; co-cited authors and journals in the references; served surgeries, research endpoints, keywords; and the level of evidence.ResultsThere was a rising trend in the yearly publications and citations. Denmark and the USA contributed the largest number of highly cited papers. The University of Copenhagen was the most influential institution. Kehlet, Henrik was the most influential author. The British Journal of Surgery was the most often published and cited journal. ERAS protocols were overwhelmingly implemented in colorectal surgeries. The most focused endpoints were “length of stay”, “complications”, and “readmission”. The most frequently used keywords were “fast track”, “length of stay”, and “laparoscopy”. The keyword “enhanced recovery after surgery” burst since 2012. More than half of the highly cited articles presented level IV evidence, but there was no correlation between citations (densities) and the levels of evidence.ConclusionsThe highly cited research overwhelming implemented ERAS in colorectal surgeries, the “length of stay” was the most focused element, and Kehlet, Henrik was the most influential researcher. Most of the highly cited ERAS had low levels of evidence, and the total number of citations was not relevant to the level of evidence. Therefore, studies with high levels of evidence are still required in the future.
A Quantitative Method for Intraoperative Evaluation of Distal Fibular Malrotation
Authors: Huang Hui , Li Zihua , Xiao Fajiao , Xia Jiang , Li Bing , Yu Tao , Zhao Youguang , Zhou Haichao , He Wenbao , Li Zhendong , Yang Yunfeng 
Published: May 2022

BackgroundDue to the low sensitivity of commonly used radiographic parameters for the evaluation of rotational malreduction of the distal fibula under intraoperative fluoroscopy, a quantitative method is needed to make up for this defect.MethodsA total of 96 sets of computed tomography images of normal ankles were imported into MIMICS to reconstruct 3D models. The fibula models were rotated along the longitudinal axis from 30 degrees of external rotation to 30 degrees of internal rotation. Virtual X-ray function in MIMICS was used to obtain radiographic images in mortise view. A line was drawn through the tip of the medial malleolus and parallel to the distal tibial plafond, the distances from the medial edge of the fibula to the lateral malleolar fossa cortex and from the medial edge of the fibula to the lateral edge of the fibula were measured on this line, and the ratio of them was calculated and marked as ratio α.ResultsThe mean ratio α for normal ankles was 0.49 ± 0.06, while the 95% confidence interval was 0.48–0.50. The ratio α decreased when the fibula was externally rotated and increased when the fibula was internally rotated. The effects of different genders or different types on each group of data were compared, and the p values were all greater than 0.05.ConclusionsThis is a new method to quantitatively evaluate rotational malreduction of the distal fibula during operation. The ratio α can correspond to the rotation angle of the fibula. The larger the ratio α, the more the internal rotation of the fibula. Contrarily, the smaller the ratio α, the more the external rotation of the fibula. Making the ratio α close to 0.5 may be an intuitive approach that can be used intraoperatively.
Biomechanical Evaluation of Seven Fixation Methods for Sagittal Split Ramus Osteotomy with Four Advancement Levels by Finite Element Analysis
Authors: He Yu , Zhang Henglei , Qiao Jia , Fu Xi , Xu Shixing , Jin Qi , Liu Jianfeng , Chen Ying , Yu Bing , Niu Feng 
Published: May 2022

BackgroundMandibular sagittal split ramus osteotomy (SSRO) is a routine surgery to correct mandibular deformities, such as mandibular retrusion, protrusion, deficiency, and asymmetry. However, nonunion/malunion of the fragments and relapse caused by fixation failure after SSRO are major concerns. Rigid fixation to maintain postosteotomy segmental stabilization is critical for success. Additionally, understanding the biomechanical characteristics of different fixation methods in SSRO with large advancements is extremely important for clinical guidance. Therefore, the aim of the present study was to evaluate the biomechanical characteristics of different SSRO methods by finite element analysis.MethodsSSRO finite element models with 5-, 10-, 15-, and 20-mm advancements were developed. Seven fixation methods, namely, two types of bicortical screws, single miniplate, dual miniplates, grid plate, dual L-shaped plates, and hybrid fixation, were positioned into the SSRO models. Molar and incisal biomechanical loads were applied to all models to simulate bite forces. We then investigated the immediate postoperative stability from four aspects, namely, the stability of the distal osteotomy segment, osteotomy regional stability, stress distribution on the mandible, and implant stress performance.ResultsThe stability of the distal osteotomy segment and osteotomy region decreased when the advancement increased. All seven fixation methods displayed favorable biomechanical stability under minor advancement (5 mm). With large advancements, bicortical screws, dual miniplates, and grid plates provided better stability. The von Mises stress was concentrated around the screws close to the osteotomy region for the proximal segment for all fixation methods, and the von Mises stress on implants increased with larger advancements. With small advancements, five fixation methods endured tolerable maximum stresses of &lt;880 MPa. A single miniplate and dual L-shaped plates generally suffered high stresses using larger advancements. The biomechanical characteristics were similar under molar and incisal loads.ConclusionsThe current study investigated the biomechanical properties of seven fixation devices after SSRO under molar and incisal loads. Generally, bicortical screws, grid plates, and dual miniplates provided better biomechanical stability using finite element analysis.