bluuebunny/crossref_metadata_2025_split huggingface dataset:
Whole genome sequencing in paediatric channelopathy and cardiomyopathy
Authors: Kwok Sit Yee , Kwong Anna Ka Yee , Shi Julia Zhuo , Shih Connie Fong Ying , Lee Mianne , Mak Christopher C. Y. , Chui Martin , Tsao Sabrina , Chung Brian Hon Yin 
Published: March 2024

BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the promoter, intronic regions and the mitochondrial genome. However, the data on use of WGS to evaluate the genetic cause of these cardiovascular conditions in children and adolescents are limited.MethodsIn a tertiary paediatric cardiology center, we recruited all patients diagnosed with cardiac channelopathy and cardiomyopathy between the ages of 0 and 18 years old, who had negative genetic findings with prior gene panel or exome-based testing. After genetic counselling, blood samples were collected from the subjects and both their parents for WGS analysis.ResultsA total of 31 patients (11 cardiac channelopathy and 20 cardiomyopathy) were recruited. Four intronic splice-site variants were identified in three cardiomyopathy patients, which were not identified in previous whole exome sequencing. These included a pathogenic variant in TAFAZZIN:c.284+5G&gt;A (Barth syndrome), a variant of unknown significance (VUS) in MYBPC3:c.1224-80G&gt;A and 2 compound heterozygous LP variants in LZTR1 (LZTR1:c.1943-256C&gt;T and LZTR1:c1261-3C&gt;G) in a patient with clinical features of RASopathy. There was an additional diagnostic yield of 1.94% using WGS for identification of intronic variants, on top of conventional gene testing.ConclusionWGS plays a role in identifying additional intronic splice-site variants in paediatric patients with isolated cardiomyopathy. With the demonstrated low extra yield of WGS albeit its ability to provide potential clinically important information, WGS should be considered in selected paediatric cases of cardiac channelopathy and cardiomyopathy in a cost-effective manner.
A systematic review and meta-analysis of the diagnosis and surgical management of carcinoid heart disease
Authors: Namkoong Jenny , Andraweera Prabha H. , Pathirana Maleesa , Munawar Dian , Downie Michael , Edwards Suzanne , Averbuj Paula , Arstall Margaret A. 
Published: March 2024

IntroductionCarcinoid heart disease (CHD), a complication of carcinoid syndrome (CS), is a rare condition that can lead to right sided valvular heart disease and has been traditionally associated with a poor prognosis. We conducted a systematic review and meta-analysis to explore the accuracy of biomarkers and echocardiography in diagnosing CHD amongst patients who are already known to have neuroendocrine tumours and to assess whether surgical management of CHD leads to a reduction in mortality.MethodsA systematic literature search of MEDLINE, EMBASE, EBM Reviews, Google Scholar, ClinicalTrials.gov was conducted. All studies on patients with carcinoid heart disease (CHD) reporting on biomarkers, echocardiographic and surgical outcomes were included. The National Heart, Lung, and Blood Institute quality assessment tool was used to assess the methodological study quality. Data analysis was performed using Stata Statistical Software and R Studio, and individual meta-analyses were performed for biomarkers, echocardiographic findings, and surgical outcomes.ResultsA total of 36 articles were included in the systematic review analysis. N terminal pro-brain natriuretic peptide (NTproBNP) and 5-hydroxyindole acetate (5-HIAA) levels were higher in patients with CHD compared with those without CHD. 32% of CS patients had echocardiographic evidence of cardiac involvement, of which 79% involved tricuspid valve abnormalities. Moderate-severe tricuspid regurgitation was the most common echocardiographic abnormality (70% of patients). However, these analyses had substantial heterogeneity due to the high variability of cardiac involvement across studies. Pooled surgical mortality for CHD was 11% at 1 month, 31% at 12 months and 56% at 24 months. When assessing surgical outcomes longitudinally, the one-month surgical results showed a trend towards more recent surgeries having lower mortality rates than those reported in earlier years, however this was not statistically significant.DiscussionThere is not enough data in current literature to determine a clear cut-off value of NTproBNP and 5-HIAA to help diagnose or determine CHD severity. Surgical management of CHD is yet to show significant mortality benefit, and there are no consistent comparisons to medical treatment in current literature.
The ST2+ Treg/amphiregulin axis protects from immune-mediated hepatitis
Authors: Wachtendorf Selina , Jonin Fitriasari , Ochel Aaron , Heinrich Fabian , Westendorf Astrid M. , Tiegs Gisa , Neumann Katrin 
Published: March 2024

IntroductionThe alarmin IL-33 has been implicated in the pathology of immune-mediated liver diseases. IL-33 activates regulatory T cells (Tregs) and type 2 innate lymphoid cells (ILC2s) expressing the IL-33 receptor ST2. We have previously shown that endogenous IL-33/ST2 signaling activates ILC2s that aggravate liver injury in murine immune-mediated hepatitis. However, treatment of mice with exogenous IL-33 before induction of hepatitis ameliorated disease severity. Since IL-33 induces expression of amphiregulin (AREG) crucial for Treg function, we investigated the immunoregulatory role of the ST2+ Treg/AREG axis in immune-mediated hepatitis.MethodsC57BL/6, ST2-deficient (Il1rl1-/-) and Areg-/- mice received concanavalin A to induce immune-mediated hepatitis. Foxp3Cre+ x ST2fl/fl mice were pre-treated with IL-33 before induction of immune-mediated hepatitis. Treg function was assessed by adoptive transfer experiments and suppression assays. The effects of AREG and IL-33 on ST2+ Tregs and ILC2s were investigated in vitro. Immune cell phenotype was analyzed by flow cytometry. Results and discussionWe identified IL-33-responsive ST2+ Tregs as an effector Treg subset in the murine liver, which was highly activated in immune-mediated hepatitis. Lack of endogenous IL-33 signaling in Il1rl1-/- mice aggravated disease pathology. This was associated with reduced Treg activation. Adoptive transfer of exogenous IL-33-activated ST2+ Tregs before induction of hepatitis suppressed inflammatory T-cell responses and ameliorated disease pathology. We further showed increased expression of AREG by hepatic ST2+ Tregs and ILC2s in immune-mediated hepatitis. Areg-/- mice developed more severe liver injury, which was associated with enhanced ILC2 activation and less ST2+ Tregs in the inflamed liver. Exogenous AREG suppressed ILC2 cytokine expression and enhanced ST2+ Treg activation in vitro. In addition, Tregs from Areg-/- mice were impaired in their capacity to suppress CD4+ T-cell activation in vitro. Moreover, application of exogenous IL-33 before disease induction did not protect Foxp3Cre+ x ST2fl/fl mice lacking ST2+ Tregs from immune-mediated hepatitis. In summary, we describe an immunoregulatory role of the ST2+ Treg/AREG axis in immune-mediated hepatitis, in which AREG suppresses the activation of hepatic ILC2s while maintaining ST2+ Tregs and reinforcing their immunosuppressive capacity in liver inflammation.
How do sea urchins prepare offspring to face ocean acidification? Gamete intraspecific differences and adaptability
Authors: Asnicar Davide , Locatello Lisa , Zanovello Laura , Minichino Riccardo , Masiero Luciano , Munari Marco , Marin Maria Gabriella 
Published: March 2024

IntroductionDue to their relevant ecological position and well-studied biology, sea urchins are reference organisms for ocean acidification studies, at both within- and trans-generational levels. In this study, we examined gamete quality in specimens exposed to future predicted (-0.4 units) pH conditions during gametogenesis.MethodsEgg physical characteristics, biochemical composition, and fatty acid profiles were assessed after two and six months of exposure, while sperm viability and velocity were analyzed after six months of exposure. Considering the documented intraspecific variability in response to ocean acidification, this study involved two populations of Paracentrotus lividus. One population was sampled from the highly variable lagoon of Venice (Site 1), while the other was obtained from a coastal area (Site 2) characterized by more stable environmental conditions and facing minimal anthropogenic stress.ResultsA different response was highlighted in the two sites. Noteworthy trends emerged, especially in the fatty acid profile and sperm traits. Although adults were fed the same diet, Site 1 eggs contained more high-energetic fatty acids than Site 2, potentially boosting the survival odds for the next generation. Moreover, Site 1 sperms displayed higher viability but slower motility compared to those from Site 2. Within sites, a significant difference between time points and a change in the fitness strategy of sea urchin females emerged when comparing eggs spawned after two and six months of exposure to reduced pH. The effects of time and exposure pH are more pronounced in animals from Site 1, suggesting a higher adaptability of this population rather than negative effects of ocean acidification.DiscussionOverall, our findings suggest that sea urchins have the potential to acclimate to reduced pH and to produce gametes of the same quality as controls held at the currently natural pH. Our findings emphasize the relevance of combining investigations of gamete quality characteristics, particularly egg biochemistry and fatty acid composition, and considering site variability to fully understand the transgenerational response potential of sea urchins to ocean acidification.
Study on the effect and mechanism of Lacticaseibacillus rhamnosus AFY06 on inflammation-associated colorectal cancer induced by AOM/DSS in mice
Authors: Zhang Jing , Zhang Piyun , Li Sijia , Yu Ting , Lai Xiangyu , He Yongpeng 
Published: March 2024

IntroductionLacticaseibacillus rhamnosus AFY06 (LR-AFY06) is a microorganism isolated from naturally fermented yogurt in Xinjiang, China.MethodsIn this study, we investigated the effects and mechanisms of LR-AFY06 in a mouse model of inflammation-associated colon cancer. The mouse model was established by azoxymethane/dextran sulfate sodium (AOM/DSS) induction. The tumor number in intestinal tissues was counted, and the histopathological analysis was performed on colon tissues. Enzyme-linked immunosorbent assay and real-time quantitative polymerase chain reaction were performed to measure relevant protein levels in colon tissues.ResultsLR-AFY06 treatment alleviated weight loss, increased organ index, reduced intestinal tumor incidence, improved histopathological damage, decreased the levels of inflammatory cytokines such as interleukin-6 (IL-6), interleukin-1 beta (IL-1β), tumor necrosis factor alpha (TNF-α), nuclear factor κB (NF-κB), and inducible nitric oxide synthase (iNOS) in the serum and colon tissue, downregulated the mRNA expression of inhibitor of NF-κB beta (IκBβ), p65, p50, p52, B-cell lymphoma-2 (Bcl-2), and B-cell lymphoma-extra large (Bcl-xL) in colon tissues, and increased the mRNA expression of Bid and caspase-8. The high concentration of LR-AFY06 exerted a better effect than the low concentration; however, the effect was slightly inferior to that of aspirin. Moreover, LR-AFY06 mitigated the intestinal inflammatory process and inhibited intestinal tumor development by regulating the NF-κB and apoptosis pathways.DiscussionThe present study indicates the regulatory potential of LR-AFY06 in inflammation-associated colorectal cancer in mice, providing a valuable basis for further research.
The association of TNF-alpha secretion and mtDNA copy number in CD14+ monocytes of patients with obesity and CHD
Authors: Tolstik Taisiya V. , Kirichenko Tatiana V. , Markin Alexander M. , Bogatyreva Anastasia I. , Markina Yuliya V. , Kiseleva Diana G. , Shaposhnikova Nataliya N. , Starodubova Antonina V. , Orekhov Alexander N. 
Published: March 2024

IntroductionMitochondrial dysfunction may be one of the causes of inflammatory activation of monocytes and macrophages, which leads to excessive secretion of inflammatory mediators and the development of chronic inflammation.AimsThe study was aimed to evaluate the secretion of inflammatory cytokine tumor necrosis factor-α (TNF-α) in the primary culture of monocytes, and to analyze its relationship with the number of mitochondrial DNA (mtDNA) copies in the blood of patients with coronary heart disease (CHD) and obesity.Materials and methods108 patients with obesity and concomitant CHD and a control group of 25 participants were included in the study. CD14+ monocytes were isolated by a standard method in a ficoll-urographin gradient, followed by separation using magnetic particles. The number of mtDNA copies was estimated using qPCR.ResultsIt was demonstrated that the number of mtDNA copies was significantly increased in groups of patients with CHD and obesity + CHD in comparison with control group. mtDNA copy number positively correlated with basal and LPS-stimulated TNF-α secretion, the most significant correlation was found in the group of patients with CHD and obesity.ConclusionThus, the change in mtDNA copy number in CD14+ monocytes which indicates the presence of mitochondrial dysfunction, confirm the direct involvement of mitochondria in the violation of the inflammatory response of monocytes revealed in this study as an increased secretion of inflammatory cytokine TNF-α.
Prevalence and risk factors of early postoperative seizures in patients with glioma: a systematic review and meta-analysis
Authors: Sun Bo , Sun Yuchen , Wang Zijian , Zhao Chao , Yang Liang 
Published: March 2024

ObjectiveThis study aimed to explore the prevalence and risk factors of early postoperative seizures in patients with glioma through meta-analysis.MethodsCase–control studies and cohort studies on the prevalence and risk factors of early postoperative seizures in glioma patients were retrieved from various databases including CNKI, Wanfang, VIP, PubMed, Embase, Cochrane Library, and Web of Science, and the retrieval deadline for the data was 1 April 2023. Stata15.0 was used to analyze the data.ResultsThis review included 11 studies consisting of 488 patients with early postoperative seizures and 2,051 patients without early postoperative seizures. The research findings suggest that the prevalence of glioma is complicated by seizures (ES = 19%, 95% confidence interval [CI] [14%−25%]). The results also indicated a history of seizures (RR = 1.94, 95% CI [1.76, 2.14], P = 0.001), preoperative dyskinesia (RR = 3.13, 95% CI [1.20, 8.15], P = 0.02), frontal lobe tumor (RR = 1.45, 95% CI [1.16, 1.83], P = 0.001), pathological grade ≤2 (RR = 1.74, 95% CI [1.13, 2.67], P = 0.012), tumor≥ 3 cm (RR = 1.70, 95% CI [1.18, 2.45], P = 0.005), tumor resection (RR = 1.60, 95% CI [1.36, 1.88], P = 0.001), tumor edema ≥ 2 cm (RR = 1.77, 95% CI [1.40, 2.25], P = 0.001), and glioma cavity hemorrhage (RR=3.15, 95% CI [1.85, 5.37], P = 0.001). The multivariate analysis results showed that a history of seizures, dyskinesia, tumor ≥3 cm, peritumoral edema ≥2 cm, and glioma cavity hemorrhage were indicated as risk factors for glioma complicated with early postoperative seizures.SignificanceBased on the existing evidence, seizure history, dyskinesia, frontal lobe tumor, pathological grade ≤2, tumor ≥3 cm, partial tumor resection, edema around tumor ≥2 cm, and glioma cavity hemorrhage are indicated as risk factors for glioma complicated with early postoperative seizures.
Trichostatin A relieves anxiety-and depression-like symptoms in APP/PS1 mice
Authors: Su Qiang , Ren Yu-Hua , Liu Guo-Wei , Gao Yan-Ping , Zhang Jiu-Xuan , Zhang Jin-Nan , Pei Xia-Xia , Li Tian 
Published: March 2024

Background:Cognitive deficits and behavioral disorders such as anxiety and depression are common manifestations of Alzheimer’s disease (AD). Our previous work demonstrated that Trichostatin A (TSA) could alleviate neuroinflammatory plaques and improve cognitive disorders. AD, anxiety, and depression are all associated with microglial inflammation. However, whether TSA could attenuate anxiety- and depression-like behaviors in APP/PS1 mice through anti-inflammatory signaling is still unclearly.Methods:In the present study, all mice were subjected to the open field, elevated plus maze, and forced swim tests to assess anxiety- and depression-related behaviors after TSA administration. To understand the possible mechanisms underlying the behavioral effects observed, CST7 was measured in the hippocampus of mice and LPS-treated BV2 microglia.Results:The results of this study indicated that TSA administration relieved the behaviors of depression and anxiety in APP/PS1 mice, and decreased CST7 levels in the hippocampus of APP/PS1 mice and LPS-induced BV2 cells.Conclusion:Overall, these findings support the idea that TSA might be beneficial for reducing neurobehavioral disorders in AD and this could be due to suppression of CST7-related microglial inflammation.
Impact of social support on the resilience of youth: mediating effects of coping styles
Authors: Cao Fei , Li Juan , Xin Wei , Cai Nan 
Published: March 2024

BackgroundChinese youth are at high risk for depression with a significantly higher detection rate of depression risk than other age groups, which brings about a huge challenge to the mental health work of universities. Developing supportive resources that promote resilience against adverse environmental influences in high-risk groups is quite more urgent than medical treatment for firm diagnoses of mental issues that have developed into depression in the current background.MethodsA total of 665 university students in China completed self-reported questionnaires measuring psychological resilience, social support, and coping styles. The structural equation model testing on the goodness of fit of the theoretical framework was first performed. Descriptive statistics and Pearson’s correlation analysis among social support, resilience, and coping styles were then conducted. At last, we tested the mediating role of coping styles.ResultsSocial support has a significant positive effect on the psychological resilience of the youth. Mixed coping and immature coping styles have significant negative impacts on both social support and resilience, while mature coping styles have a significant positive effect on social support and resilience. Mature and immature coping styles mediate the association between social support and resilience in youth.ConclusionBased on stress theory, this study explores mechanisms that facilitate the development of resilience in young people with regard to social support and coping styles. The current research depicts an interventional perspective of building a social support network that guides the youth to adopt mature coping styles to enhance their resilience and facilitate their mental health.
Anaesthesiologic Considerations for Intraoperative ECMO Anticoagulation During Lung Transplantation: A Single-Centre, Retrospective, Observational Study
Authors: Vajter Jaromir , Holubova Gabriela , Novysedlak Rene , Svorcova Monika , Vachtenheim Jiri , Vymazal Tomas , Lischke Robert 
Published: March 2024

Background: Extracorporeal membrane oxygenation (ECMO) is frequently used during lung transplantation. Unfractionated heparin (UFH) is mainly used as part of ECMO support for anticoagulation. One of the most common perioperative complications is bleeding, which high-dose UFH can aggravate.Methods: We retrospectively analyzed (n = 141) patients who underwent lung transplantation between 2020 and 2022. All subjects (n = 109) underwent central cannulated VA ECMO with successful intraoperative ECMO weaning. Patients on ECMO bridge, postoperative ECMO, heart-lung transplants and transplants without ECMO were excluded. The dose of UFH for the entire surgical procedure, blood loss and consumption of blood derivatives intraoperatively and 48 h after ICU admission were recorded. Surgical revision for postoperative bleeding were analyzed. Thrombotic complications, mortality and long-term survival were evaluated.Results: Lower doses of UFH administered for intraoperative ECMO anticoagulation contribute to a reduction in intraoperative blood derivates consumption and blood loss with no thrombotic complications related to the patient or the ECMO circuit. Lower doses of UFH may lead to a decreased incidence of surgical revision for hemothorax.Conclusion: Lower doses of UFH as part of intraoperative ECMO anticoagulation might reduce the incidence of complications and lead to better postoperative outcomes.
THÀNH PHẦN LOÀI VÀ PHÂN BỐ TỔ CỦA CÁC LOÀI ONG MẬT (Hymenoptera: Apidae) TỰ NHIÊN Ở VÙNG NÚI TÂY BẮC, VIỆT NAM
Authors: Hồng Bùi Minh , Thúy Trần Thị , Nam Nguyễn Hoàng , Hoài Lê Thị Thu 
Published: March 2024

Nghiên cứu nhằm xác định thành phần loài, vị trí xây dựng tổ, cấu trúc tổ, kích thước lỗ tổ ong thợ của các loài ong mật tự nhiên ở vùng núi Tây Bắc, Việt Nam. Phương pháp điều tra trực tiếp các loài ong lấy mật tự nhiên tại Sơn La, Yên Bái và Hòa Bình. Kết quả đã ghi nhận được 2 loài ong mật tự nhiên là Apis cerana và Apis dorsata. Vị trí xây dựng tổ của loài Apis cerana ở độ cao 535,4 m đến 1274,8 m. Cấu trúc tổ của Ong Apis cerana bao gồm nhiều bánh tổ xây theo chiều thẳng đứng vuông góc với mặt phẳng đất; nằm trong các hốc đất, đá, thân cây khô, hộp gỗ và là những nơi kín, kích thước lỗ tổ ong là 4,4 – 4,8 mm. Loài Ong Apis dorsata làm tổ ở độ cao 621,1 m đến 640,5 m. Tổ được làm trên cành cây tươi theo chiều thẳng đứng vuông góc với mặt phẳng đất, trên tổ có nhiều cành cây che chắn, kích thước lỗ tổ ong thợ là 5,2 – 5,7 mm. Như vậy, loài Ong Apis dorsata có kích thước lỗ tổ ong lớn hơn loài Ong Apis cerana. Cấu trúc tổ loài ong Apis dorsata gồm một bánh tổ, trong khi loài Ong Apis cerana có nhiều bánh tổ, vị trí. Điều tra cho thấy vị trí độ cao tổ của loài Ong Apis cerana cao hơn loài Ong Apis dorsata.
ĐẶC ĐIỂM LÂM SÀNG VÀ CẬN LÂM SÀNG CỦA BỆNH NHÂN SỐT XUẤT HUYẾT DENGUE TẠI THÁI NGUYÊN
Authors: Nga Lương Thị Quỳnh , Thanh Dương Văn , Tuyết Nguyễn Thị 
Published: March 2024

Chúng tôi tiến hành nghiên cứuhồi cứu trên 43 bệnh nhân được chẩn đoán sốt xuất huyết denguetheo tiêu chuẩn của Bộ Y tế năm 2019. Với mục tiêu mô tả đặc điểm dịch tễ học, lâm sàng, cận lâm sàng bệnh nhân sốt xuất huyết dengue tại Thái Nguyên, kết quả thu đượcnhư sau: độ tuổi 35 - ≤ 60 chiếm 58,1%, độ tuổi ≤ 16 chiếm 4,6%. Bệnh nhân sống ở 15/21 phường; 01/11 xã trong thành phố Thái Nguyên; 4/6 huyện gồm Phú Bình, Võ Nhai, Đại Từ, Đồng Hỷ. Bệnh nhân có triệu chứng sốt 100%, xuất huyết 31/43 (72,1%), đau bụng vùng gan hoặc ấn đau vùng gan 10/43 (23,2%), nôn 7/43 (16,3%), tiêu chảy (9,3%), tràn dịch màng phổi và màng bụng (4,6%). Bệnh nhân có chỉ số hematocrit 35-45% là 21/43 (48,8%); hematocrit > 45% chiếm 20/43 (46,6%). Bệnh nhân có chỉ số tiểu cầu giảm 5- < 50 chiếm 22/43 (51,2%); 20/43 (46,5%) bệnh nhân có tiểu cầu giảm 50 - < 150 G/l; không có bệnh nhân nào có tiểu cầu < 5 G/l. Bệnh nhân có chỉ số AST, ALT 40 - < 400 (U/l) chiếm tỉ lệ cao nhất tương ứng là 35/43 (81,4%) và 30/43 (69,8%), 2/43 (4,6%) bệnh nhân có AST ≥ 1000 (U/l); 1/43 (2,3%) bệnh nhân có ALT ≥ 1000 (U/l). 100% bệnh nhân trong nghiên cứu đều khỏi và xuất viện, trong đó chủ yếu là bệnh nhân sốt xuất huyết dengue và sốt xuất huyết dengue có dấu hiệu cảnh báo.