bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome-wide association study of nausea and vomiting during pregnancy in Japan: the TMM BirThree Cohort Study
Authors: Yonezawa Yudai , Takahashi Ippei , Ohseto Hisashi , Ueno Fumihiko , Onuma Tomomi , Noda Aoi , Murakami Keiko , Ishikuro Mami , Obara Taku , Kuriyama Shinichi 
Published: March 2024

Abstract
Background
Nausea and vomiting during pregnancy (NVP) and hyperemesis gravidarum (HG), common conditions affecting most pregnant women, are highly heritable and associated with maternal and fetal morbidity. However, the pathologies underlying NVP and HG and their associated loci are scarce.

Methods
We performed genome-wide association studies (GWAS) of NVP in pregnant women (n = 23,040) who participated in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study in Japan from July 2013 to March 2017. Participants were divided into discovery (n = 9,464) and replication (n = 10,051) stages based on the platform used for their genotyping. Loci that achieved the genome-wide significance level (p < 5.0 × 10− 8) in the discovery stage were selected for genotyping in the replication stage. A meta-analysis integrating the discovery and replication stage results (n = 19,515) was conducted. NVP-related variables were identified as categorical or continuous.

Results
GWAS analysis in the discovery phase revealed loci linked to NVP in two gene regions, 11q22.1 (rs77775955) and 19p13.11 (rs749451 and rs28568614). Loci in these two gene regions have also been shown to be associated with HG in a White European population, indicating the generalizability of the GWAS analyses conducted in this study. Of these, only rs749451 and rs28568614 at 19p13.11 reached the genome-wide suggestive level (p < 1.0 × 10− 5) in the replication stage; however, both loci were significant in the meta-analysis.

Conclusions
NVP-related loci were identified in the Japanese population at 11q22.1 and 19p13.11, as reported in previous GWAS. This study contributes new evidence on the generalizability of previous GWAS on the association between genetic background and NVP.
Induced erotomania by online romance fraud - a novel form of de Clérambault’s syndrome
Authors: Alotti Nasri , Osvath Peter , Tenyi Tamas , Voros Viktor 
Published: March 2024

AbstractBackgroundAlthough the impact of internet usage on mental health is extensively documented, there is a notable scarcity of reports in the literature concerning internet-induced erotomania. Erotomania is a rare and likely underdiagnosed delusional disorder. It is characterized by an irrational belief held by the affected persons that someone of higher socioeconomic status harbor romantic feelings toward them. Here, we describe the psychopathology of erotomanic delusion induced by online romantic fraud in a female patient. Employing this case as a focal point, we illuminate novel aspects of erotomania that warrant attention and examination.Case presentationWe present a compelling case involving a 70-year-old married Caucasian woman diagnosed with medically controlled persistent depressive disorder for several years. The intricacies of her condition became evident as she became deeply engrossed in online profiles featuring the image of a renowned musician, inadvertently falling victim to an online romantic fraud. Subsequently, this distressing experience triggered the emergence of erotomanic delusions and a suicide attempt. The patient's history reveals an array of medical conditions and stressful life events, contributing to her vulnerability. The diagnosis of erotomanic delusional disorder, dysthymia, and mild cognitive impairment with cerebral vascular background was established. Treatment involved her previous antidepressant with low-dose risperidone, alongside supportive individual and group therapy. Her delusion showed remission four weeks later, prompting her discharge for outpatient follow-up. Although she retained some false beliefs, the intensity of the symptoms had notably diminished and her functionality improved.ConclusionThis case underscores the complex interplay between mental health, online activities, and the consequences of delusions, including suicidal thoughts, shedding light on the need for a comprehensive approach in addressing such challenging psychiatric scenarios.
How individuals’ opinions influence society’s resistance to epidemics: an agent-based model approach
Authors: Yu Geonsik , Garee Michael , Ventresca Mario , Yih Yuehwern 
Published: March 2024

Abstract
Background
Protecting public health from infectious diseases often relies on the cooperation of citizens, especially when self-care interventions are the only viable tools for disease mitigation. Accordingly, social aspects related to public opinion have been studied in the context of the recent COVID-19 pandemic. However, a comprehensive understanding of the effects of opinion-related factors on disease spread still requires further exploration.

Methods
We propose an agent-based simulation framework incorporating opinion dynamics within an epidemic model based on the assumption that mass media channels play a leading role in opinion dynamics. The model simulates how opinions about preventive interventions change over time and how these changes affect the cumulative number of cases. We calibrated our simulation model using YouGov survey data and WHO COVID-19 new cases data from 15 different countries. Based on the calibrated models, we examine how different opinion-related factors change the consequences of the epidemic. We track the number of total new infections for analysis.

Results
Our results reveal that the initial level of public opinion on preventive interventions has the greatest impact on the cumulative number of cases. Its normalized permutation importance varies between 69.67% and 96.65% in 15 models. The patterns shown in the partial dependence plots indicate that other factors, such as the usage of the pro-intervention channel and the response time of media channels, can also bring about substantial changes in disease dynamics, but only within specific ranges of the dominant factor.

Conclusions
Our results reveal the importance of public opinion on intervention during the early stage of the pandemic in protecting public health. The findings suggest that persuading the public to take actions they may be hesitant about in the early stages of epidemics is very costly because taking early action is critical for mitigating infectious diseases. Other opinion-related factors can also lead to significant changes in epidemics, depending on the average level of public opinion in the initial stage. These findings underscore the importance of media channels and authorities in delivering accurate information and persuading community members to cooperate with public health policies.
Integrating palliative care education in pulmonary rehabilitation: a randomized controlled study protocol
Authors: Mendes M. Aurora , Janssen Daisy J. A. , Marques Alda 
Published: March 2024

Abstract
Background
Palliative care addresses multiple unmet needs of people with chronic obstructive pulmonary disease (COPD) or interstitial lung diseases (ILD) and their family and/or friend caregivers, but it remains highly underused. Pulmonary rehabilitation (PR) may provide a key opportunity to introduce palliative care. We aim to explore the effects of palliative care education as part of PR on knowledge about this field in people with COPD or ILD and their family and/or friend caregivers.

Methods
A randomized controlled study will compare PR with palliative care education (experimental) with traditional PR (control) in people with COPD or ILD and their family and/or friend caregivers. Family and/or friend caregivers will be invited to take part in education and psychosocial support sessions. In addition to the usual educational content, the experimental group will have a session on palliative care, a “Peer-to-peer session”, two “Get-apart sessions” and online sessions. The “Peer-to-peer session” and the “Get-apart sessions” will be discussions about topics suggested by participants. The “Get-apart sessions” will be dedicated to people with COPD or ILD apart from their family and/or friend caregivers and vice versa. The online sessions will be zoom meetings to discuss any health-related issues raised by participants, at a flexible time. A mixed-methods approach will be used to evaluate the outcomes. The primary outcome will be knowledge about palliative care. Secondary outcomes will include attitude towards palliative care referral, symptoms, disease impact, health-related quality of life, needs, knowledge about the disease, burden of providing care, adherence, adverse events and referral to a specialist palliative care team. Quantitative and qualitative data will be collected at baseline and end of PR. At 6-months post-PR, only patient-reported outcomes will be collected. For the primary outcome, time*group interaction will be analyzed with mixed analysis of variance.

Discussion
This study aims to demonstrate the impact of integrating palliative care into the PR education program.

Trial registration
The trial was registered in the ClinicalTrials.gov U.S. National Library of Medicine, on 1st September, 2023 (NCT06046547).
Deletion of Slc9a1 in Cx3cr1+ cells stimulated microglial subcluster CREB1 signaling and microglia-oligodendrocyte crosstalk
Authors: Song Shanshan , Oft Helena , Metwally Shamseldin , Paruchuri Satya , Bielanin John , Fiesler Victoria , Sneiderman Chaim , Kohanbash Gary , Sun Dandan 
Published: March 2024

AbstractMicroglial Na/H exchanger-1 (NHE1) protein, encoded by Slc9a1, plays a role in white matter demyelination of ischemic stroke brains. To explore underlying mechanisms, we conducted single cell RNA-seq transcriptome analysis in conditional Slc9a1 knockout (cKO) and wild-type (WT) mouse white matter tissues at 3 days post-stroke. Compared to WT, Nhe1 cKO brains expanded a microglial subgroup with elevated transcription of white matter myelination genes including Spp1, Lgals3, Gpnmb, and Fabp5. This subgroup also exhibited more acidic pHi and significantly upregulated CREB signaling detected by ingenuity pathway analysis and flow cytometry. Moreover, the Nhe1 cKO white matter tissues showed enrichment of a corresponding oligodendrocyte subgroup, with pro-phagocytosis and lactate shuffling gene expression, where activated CREB signaling is a likely upstream regulator. These findings demonstrate that attenuation of NHE1-mediated H+ extrusion acidifies microglia/macrophage and may underlie the stimulation of CREB1 signaling, giving rise to restorative microglia-oligodendrocyte interactions for remyelination.
Incorporation of the histone variant H2A.Z counteracts gene silencing mediated by H3K27 trimethylation in Fusarium fujikuroi
Authors: Atanasoff-Kardjalieff Anna K. , Berger Harald , Steinert Katharina , Janevska Slavica , Ponts Nadia , Humpf Hans-Ulrich , Kalinina Svetlana , Studt-Reinhold Lena 
Published: March 2024

Abstract
Background
Fusarium fujikuroi is a pathogen of rice causing diverse disease symptoms such as ‘bakanae’ or stunting, most likely due to the production of various natural products (NPs) during infection. Fusaria have the genetic potential to synthesize a plethora of these compounds with often diverse bioactivity. The capability to synthesize NPs exceeds the number of those being produced by far, implying a gene regulatory network decisive to induce production. One such regulatory layer is the chromatin structure and chromatin-based modifications associated with it. One prominent example is the exchange of histones against histone variants such as the H2A variant H2A.Z. Though H2A.Z already is well studied in several model organisms, its regulatory functions are not well understood. Here, we used F. fujikuroi as a model to explore the role of the prominent histone variant FfH2A.Z in gene expression within euchromatin and facultative heterochromatin.

Results
Through the combination of diverse ‘-omics‘ methods, we show the global distribution of FfH2A.Z and analyze putative crosstalks between the histone variant and two prominent histone marks, i.e., H3K4me3 and H3K27me3, important for active gene transcription and silencing, respectively. We demonstrate that, if FfH2A.Z is positioned at the + 1-nucleosome, it poises chromatin for gene transcription, also within facultative heterochromatin. Lastly, functional characterization of FfH2A.Z overexpression and depletion mutants revealed that FfH2A.Z is important for wild type-like fungal development and secondary metabolism.

Conclusion
In this study, we show that the histone variant FfH2A.Z is a mark of positive gene transcription and acts independently of the chromatin state most likely through the stabilization of the + 1-nucleosome. Furthermore, we demonstrate that FfH2A.Z depletion does not influence the establishment of both H3K27me3 and H3K4me3, thus indicating no crosstalk between FfH2A.Z and both histone marks. These results highlight the manifold functions of the histone variant FfH2A.Z in the phytopathogen F. fujikuroi, which are distinct regarding gene transcription and crosstalk with the two prominent histone marks H3K27me3 and H3K4me3, as proposed for other model organisms.
Patients with systemic sclerosis and low CD4 numbers after autologous stem cell transplantation have a favorable outcome
Authors: Pecher Ann-Christin , Klein Reinhild , Koetter Ina , Wagner Marieke , Vogel Wichard , Wirths Stefan , Lengerke Claudia , Henes Joerg Christoph 
Published: March 2024

Abstract
Background
Treatment with high-dose chemotherapy followed by autologous hematopoietic stem cell transplantation (aHSCT) is an intensive treatment option for patients with severe forms of systemic sclerosis (SSc). Even though associated with a high treatment related mortality, the results in this high-risk population are generally favourable. The knowledge on the potential mechanism of action of this therapy and how it can improve patients with SSc is crucial to better select the right patients for aHSCT.

Methods
This is a monocentric retrospective study from Tübingen, Germany, including 32 patients who underwent aHSCT. Peripheral blood samples were analysed for different lymphocyte subsets at various timepoints before and after aHSCT. Patients were divided into responders and non-responders according to the modified Rodnan skin score and lung function test in the three years following aHSCT.

Results
Responders showed significantly lower levels of cluster of differentiation (CD)4 positive T cells in the first months after aHSCT (month 1 and 3), B cells (month 3 and 6 after aHSCT) and natural killer cells (month 1). Mantel-cox test showed a significant deviation of the probability curves, i.e. patients with lower CD4 + T cells and natural killer cells one month and B cells after 3 months after stem cell transplantation had a higher probability to belong to the responder group.

Conclusions
Taken together, this study supports the theory that a profound CD4 + T cell and B cell lymphopenia is important for patients with SSc to achieve a sustained response after aHSCT.
Long-term outcome of combined radiologic and surgical strategy for the management of biliary complications after pediatric liver transplantation
Authors: Calinescu Ana M. , Monluc Sébastien , Franchi-Abella Stephanie , Habes Dalila , Weber Gabrielle , Almes Marion F. , Waguet Jerome , Jacquemin Emmanuel , Fouquet Virginie , Miatello Jordi , Hery Geraldine , Baujard Catherine , Gonzales Emmanuel , Branchereau Sophie , Guérin Florent 
Published: March 2024

Abstract
Objectives
We aimed to analyze the risk factors for management failure of BC after pediatric liver transplantation (pLT) by retrospectively analyzing primary pLT performed between 1997 and 2018 (n = 620 patients).

Results
In all, 117/620 patients (19%) developed BC. The median (range) follow-up was 9 (1.4–21) years. Patient survival at 1, 5 and 10 years was 88.9%, 85.7%, 84.4% and liver graft survival was 82.4%, 77.4%, and 74.3% respectively. Graft not patient survival was impaired by BC (p = 0.01). Multivariate analysis identified the number of dilatation courses > 2 (p = 0.008), prolonged cold ischemia time (p = 0.004), anastomosed multiple biliary ducts (p = 0.019) and hepatic artery thrombosis (p = 0.01) as factors associated with impaired graft survival. The number of dilatation courses > 2 (p < 0.001) and intrahepatic vs anastomotic stricture (p = 0.014) were associated with management failure. Thus, repeated (> 2) radiologic dilatation courses are associated with impaired graft survival and management failure. Overall, graft but not patient survival was impaired by BC.
Fulminant coronavirus disease 2019 meningitis in Iranian infants: a case series
Authors: Afsharpayman Shahla , Madani Sedigheh , Amirsalari Susan , Momeni Nooradin , Torkaman Mohammad , Beiraghdar Fatemeh , Kavehmanesh Zohreh , Hosseininezhad Zahra 
Published: March 2024

Abstract
Background
Pediatric coronavirus disease 2019 infection usually presents with respiratory and gastrointestinal symptoms. In this report we present fulminant meningitis as the main presentation of coronavirus disease 2019 without major signs and symptoms of other organs’ involvement in 3 infants.

Cases
The first case was a 4 months Iranian male infant with fulminant meningitis as the main presentation of coronavirus disease 2019 without other organ involvement. He was treated as suspected bacterial meningitis but CSF PCR and CSF culture were negative for common meningeal pathogens. On 3rd day, his coronavirus disease 2019 PCR test became positive, while it was negative on 1st day. The second case was a 13 months Iranian male infant with fever, irritability, and photophobia for 24 h before poorly controlled status epilepticus. CSF coronavirus disease 2019 PCR became positive while CSF PCR and CSF culture were negative for other common meningeal pathogens. Seizures were controlled with multiple anti-seizure medications. The third case was a 14 months Iranian female infant with fever and seizure1 hour before admission, leading to poorly controlled status epilepticus despite anti-epileptic therapy 10 h after admission. CSF coronavirus disease 2019 PCR became positive while CSF PCR and CSF culture were negative for other common meningeal pathogens. He was controlled with multiple anti-seizure medications.

Conclusion
Meningitis of coronavirus disease 2019 should be considered in severely ill pediatric cases with poorly controlled seizures and RBC in CSF smear. Also, pediatricians can consider corticosteroids, remdesivir, and IVIG therapy in these cases.
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario
Authors: de Freitas Ribeiro Andreza Amália , Junior Nilson Moreira Cipriano , dos Santos Luciana Lara 
Published: March 2024

Abstract
Background
A detailed understanding of the genetic basis of cancer is of great interest to public health monitoring programs. Although many studies have been conducted in Brazil, a global view on the molecular profile related to hereditary breast and ovarian cancer (HBOC) in this large and heterogeneous population is lacking.

Methods
A systematic review following the PRISMA guidelines was conducted in three electronic databases (PubMed, BIREME and SciELO). Brazilian studies covering molecular analysis of genes related to HBOC, published until December 2023, were considered.

Results
We identified 35 original studies that met all the inclusion criteria. A total of 137 distinct mutations were found in the BRCA1 gene, but four of them corresponded to 44.5% of all mutations found in this gene. The c.5266dupC BRCA1 mutation was responsible for 26.8% of all pathogenic mutations found in the BRCA1 gene in patients with clinical criteria for HBOC from the Brazilian population. Considering all studies that track this mutation in the BRCA1 gene, we found a frequency of 2% (120/6008) for this mutation in Brazilian patients. In the BRCA2 gene, the four most frequent mutations corresponded to 29.2% of pathogenic mutations. Even though it was tracked by few studies, the c.156_157insAlu mutation was responsible for 9.6% of all pathogenic mutations reported in the BRCA2 gene. Seventeen studies found pathogenic mutations in other non-BRCA genes, the c.1010G > A mutation in the TP53 gene being the most frequent one. Considering all studies that screened for this specific mutation in patients with the clinical criteria for HBOC, the frequency of c.1010G > A was estimated at 1.83% (61/3336).

Conclusions
Despite significant molecular heterogeneity among mutations in HBOC patients from Brazil, three mutations deserve to be highlighted, c.5266dupC, c.156_157insAlu and c.1010G > A in the BRCA1, BRCA2 and TP53 genes, respectively. With more than 200 records, these three mutations play a vital role in the pathology of breast and ovarian cancer in Brazil. The data collected shed light on the subject, but there is still not enough data from certain subpopulations.
Interface Shear Failure Behavior Between Normal Concrete (NC) and Ultra-High Performance Concrete (UHPC)
Authors: Zhang Boshan , Yu Jiangjiang , Chen Weizhen , Chen Jianbo , Li Heng , Niu Jialun 
Published: March 2024

AbstractUltra-high performance concrete (UHPC) with excellent mechanical properties and durability is a promising material for reinforcement of existing normal concrete (NC) structures. In this paper, the shear failure behavior of the NC–UHPC interface was studied by the slant shear test and the SEM (scanning electron microscope) visualization test, considering influence of the substrate strength and the interface roughed treatment. As the NC substrate and the UHPC overlay are tightly combined at the interface transition zone (ITZ), the interface exhibits good slant shear performance, and the measured interfacial shear strength could reach 19.4 MPa with C40 substrate and 21.8 MPa with C50 substrate. In addition, the microstructure and composition of the ITZ, the possible interfacial failure modes, and the load-carrying mechanism of the interface under compression–shear force are revealed. The high interface roughness and the substrate strength have positive influence on the shear strength, and greatly affect the prone failure mode and the load-slip characteristic.