bluuebunny/crossref_metadata_2025_split huggingface dataset:
Studying the relationship between intelligence quotient and schizophrenia polygenic scores in a family design with first-episode psychosis population
Authors: Murillo-García Nancy , Papiol Sergi , Fernández-Cacho Luis Manuel , Fatjó-Vilas Mar , Ayesa-Arriola Rosa 
Published: March 2024

Abstract

Background
The intelligence quotient (IQ) of patients with first-episode psychosis (FEP) and their unaffected relatives may be related to the genetic burden of schizophrenia (SCZ). The polygenic score approach can be useful for testing this question.

Aim
To assess the contribution of the polygenic risk scores for SCZ (PGS-SCZ) and polygenic scores for IQ (PGS-IQ) to the individual IQ and its difference from the mean IQ of the family (named family-IQ) through a family-based design in an FEP sample.

Methods
The PAFIP-FAMILIES sample (Spain) consists of 122 FEP patients, 131 parents, 94 siblings, and 176 controls. They all completed the WAIS Vocabulary subtest for IQ estimation and provided a DNA sample. We calculated PGS-SCZ and PGS-IQ using the continuous shrinkage method. To account for relatedness in our sample, we performed linear mixed models. We controlled for covariates potentially related to IQ, including age, years of education, sex, and ancestry principal components.

Results
FEP patients significantly deviated from their family-IQ. FEP patients had higher PGS-SCZ than other groups, whereas the relatives had intermediate scores between patients and controls. PGS-IQ did not differ between groups. PGS-SCZ significantly predicted the deviation from family-IQ, whereas PGS-IQ significantly predicted individual IQ.

Conclusions
PGS-SCZ discriminated between different levels of genetic risk for the disorder and was specifically related to patients’ lower IQ in relation to family-IQ. The genetic background of the disorder may affect neurocognition through complex pathological processes interacting with environmental factors that prevent the individual from reaching their familial cognitive potential.
A Policy Gradient Algorithm for the Risk-Sensitive Exponential Cost MDP
Authors: Moharrami Mehrdad , Murthy Yashaswini , Roy Arghyadip , Srikant R. 
Published: March 2024

We study the risk-sensitive exponential cost Markov decision process (MDP) formulation and develop a trajectory-based gradient algorithm to find the stationary point of the cost associated with a set of parameterized policies. We derive a formula that can be used to compute the policy gradient from (state, action, cost) information collected from sample paths of the MDP for each fixed parameterized policy. Unlike the traditional average cost problem, standard stochastic approximation theory cannot be used to exploit this formula. To address the issue, we introduce a truncated and smooth version of the risk-sensitive cost and show that this new cost criterion can be used to approximate the risk-sensitive cost and its gradient uniformly under some mild assumptions. We then develop a trajectory-based gradient algorithm to minimize the smooth truncated estimation of the risk-sensitive cost and derive conditions under which a sequence of truncations can be used to solve the original, untruncated cost problem. Funding: This work was supported by the Office of Naval Research Global [Grant N0001419-1-2566], the Division of Computer and Network Systems [Grant 21-06801], the Army Research Office [Grant W911NF-19-1-0379], and the Division of Computing and Communication Foundations [Grants 17-04970 and 19-34986].
Azathioprine associated with intrahepatic cholestasis in a patient with twin pregnancy after a second kidney transplant
Authors: Khedr Lamis , Ekram Mohamed 
Published: March 2024

Introduction: Most pregnancies in women after a kidney transplant result in a live birth, but kidney functions should be stable for one year before conception. For immunosuppression modification occurring before pregnancy, azathioprine is used because it is considered safe for major congenital malformations during pregnancy. However, there may be an association between exposure to azathioprine during pregnancy and the onset of an unusual, early and severe form of intrahepatic cholestasis. Case description: A young patient with a twin pregnancy after a second kidney transplant experienced intrahepatic cholestasis. There was a wide range of differential diagnosis. A battery of tests was requested including autoimmune markers, virology, and imaging. The conclusion that azathioprine was contributing to intrahepatic cholestasis with pregnancy was reached after exclusion of all other differentials. Conclusions: Complications of pregnancy after a kidney transplant include hypertension, pre-eclampsia, deterioration of graft function up to rejection, but also unusual side effects of immunosuppression medication.
Development of immature ovarian teratoma after mature teratoma in a girl with familial ovarian teratoma: A case report
Authors: Ju U Chul , Kang Woo Dae , Kim Seok Mo 
Published: March 2024

BACKGROUND
Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women. This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of the ovary in an adolescent female with a family history of ovarian teratoma.
CASE SUMMARY
A 16-year-old girl who had undergone bilateral ovarian cystectomy for mature teratomas 3 years ago showed bilateral adnexal tumors during her regular ultrasonography follow-up every 6 months. She received laparoscopic bilateral ovarian cystectomy, and final histopathology showed grade-1 immature teratoma of the left ovary and mature teratoma of the right ovary. Laparoscopic left salpingo-oophorectomy and staging procedures were performed again. Her mother, maternal aunt, and maternal grandmother had also received surgeries for mature ovarian teratomas.
CONCLUSION
It is important to have guidance on management of patient and family members with familial ovarian teratomas.
Diagnosis of poorly differentiated adenocarcinoma of the stomach by confocal laser endomicroscopy: A case report
Authors: Lou Jia-Xin , Wu Yong , Huhe Muren , Zhang Jing-Jie , Jia Dong-Wu , Jiang Zhen-Yu 
Published: March 2024

BACKGROUND
In recent years, confocal laser endomicroscopy (CLE) has become a new endoscopic imaging technology at the microscopic level, which is extensively performed for real-time in vivo histological examination. CLE can be performed to distinguish benign from malignant lesions. In this study, we diagnosed using CLE an asymptomatic patient with poorly differentiated gastric adenocarcinoma.
CASE SUMMARY
A 63-year-old woman was diagnosed with gastric mucosal lesions, which may be gastric cancer, in the small curvature of the stomach by gastroscopy. She consented to undergo CLE for morphological observation of the gastric mucosa. Through the combination of CLE diagnosis and postoperative pathology, the intraoperative CLE diagnosis was considered to be reliable. According to our experience, CLE can be performed as the first choice for the diagnosis of gastric cancer.
CONCLUSION
CLE has several advantages over pathological diagnosis. We believe that CLE has great potential in the diagnosis of benign and malignant gastric lesions.
Primary gastroduodenal tuberculosis presenting as gastric outlet obstruction: A case report and review of literature
Authors: Ali Abdihamid Mohamed , Mohamed Yahye Garad , Mohamud Abdirahman Ahmed , Mohamed Abdulkadir Nor , Ahmed Mohamed Rage , Abdullahi Ismail Mohamud , Saydam Tuba 
Published: March 2024

BACKGROUND
Mycobacterium tuberculosis (TB) is the causative agent of TB, a chronic granulomatous illness. This disease is prevalent in low-income countries, posing a significant global health challenge. Gastrointestinal TB is one of the three forms. The disease can mimic other intra-abdominal conditions, leading to delayed diagnosis owing to the absence of specific symptoms. While gastric outlet obstruction (GOO) remains a frequent complication, its incidence has declined with the advent of proton pump inhibitors and Helicobacter pylori eradication therapy. Gastroduodenal TB can cause upper gastrointestinal hemorrhage, obstruction, and malignancy-like tumors.
CASE SUMMARY
A 23-year-old male presented with recurrent epigastric pain, distension, nausea, vomiting, and weight loss, prompting a referral to a gastroenterologist clinic. Endoscopic examination revealed distorted gastric mucosa and signs of chronic inflammation. However, treatment was interrupted, possibly owing to vomiting or comorbidities such as human immunodeficiency virus infection or diabetes. Subsequent surgical intervention revealed a dilated stomach and diffuse thickening of the duodenal wall. Resection revealed gastric wall effacement with TB.
CONCLUSION
Primary gastric TB is rare, frequently leading to GOO. Given its rarity, suspicions should be promptly raised when encountering relevant symptoms, often requiring surgical intervention for diagnosis and treatment.
Efficacy and safety of therapeutic strategies for human brucellosis: A systematic review and network meta-analysis
Authors: Silva Sarah Nascimento , Cota Gláucia , Xavier Diego Mendes , de Souza Glaciele Maria , Souza Marina Rocha Fonseca , Gonçalves Moisés Willian Aparecido , Tuon Felipe Francisco , Galvão Endi Lanza 
Published: March 2024

Background
Human brucellosis is a neglected, re-emerging, and endemic zoonosis in many countries. The debilitating and disabling potential of the disease is a warning about its morbidity, generating socioeconomic impact. This review aims to update the current evidence on the efficacy and safety of therapeutic options for human brucellosis using the network meta-analysis (NMA).

Methodology
A systematic search was conducted in four different databases by independent reviewers to assess overall therapy failure, adverse events, and time to defervescence associated with different therapies. Randomized clinical trials (RCTs) evaluating any therapeutic drug intervention were selected, excluding non-original studies or studies related to localized forms of the disease or with less than 10 participants. Data were analyzed by frequentist statistics through NMA by random effects model. The risk of bias and certainty of evidence was assessed, this review was registered at PROSPERO.

Results
Thirty-one (31) RCTs involving 4167 patients were included. Three networks of evidence were identified to evaluate the outcomes of interest. Triple therapy with doxycycline + streptomycin + hydroxychloroquine for 42 days (RR: 0.08; CI 95% 0.01–0.76) had a lower failure risk than the doxycycline + streptomycin regimen. Doxycycline + rifampicin had a higher risk of failure than doxycycline + streptomycin (RR: 1.96; CI 95% 1.27–3.01). No significant difference was observed between the regimens when analyzing the incidence of adverse events and time to defervescence. In general, most studies had a high risk of bias, and the results had a very low certainty of evidence.

Conclusions
This review confirmed the superiority of drugs already indicated for treating human brucellosis, such as the combination of doxycycline and aminoglycosides. The association of hydroxychloroquine to the dual regimen was identified as a potential strategy to prevent overall therapy failure, which is subject to confirmation in future studies.
Knowledge, attitudes, and practices towards childhood tuberculosis among healthcare workers at two primary health facilities in Lusaka, Zambia
Authors: Kaumba Paul Chabala , Siameka Daniel , Kagujje Mary , Chungu Chalilwe , Nyangu Sarah , Sanjase Nsala , Maimbolwa Minyoi Mubita , Shuma Brian , Chilukutu Lophina , Muyoyeta Monde 
Published: March 2024

Background
Zambia is among the 30 high-burden countries for tuberculosis (TB), Human Immunodeficiency Virus (HIV)-associated TB, and multi-drug resistant/rifampicin resistant TB with over 5000 children developing TB every year. However, at least 32% of the estimated children remain undiagnosed. We assessed healthcare workers’ (HCWs) knowledge, attitudes, and practices (KAP) towards childhood TB and the factors associated with good KAP towards childhood TB.

Methods
Data was collected at two primary healthcare facilities in Lusaka, Zambia from July to August 2020. Structured questionnaires were administered to HCWs that were selected through stratified random sampling. Descriptive analysis was done to determine KAP. A maximum knowledge, attitude, and practice scores for a participant were 44, 10, and 8 points respectively. The categorization as either “poor” or “good” KAP was determined based on the mean/ median. Logistic regression analysis was performed to assess the associations between participant characteristics and KAP at statistically significant level of 0.05%.

Results
Among the 237 respondents, majority were under 30 years old (63.7%) and were female (72.6%). Half of the participants (50.6%) were from the outpatient department (OPD) and antiretroviral therapy (ART) clinic, 109 (46.0) had been working at the facility for less than 1 year, 134 (56.5%) reported no previous training in TB. The median/mean KAP scores were 28 (IQR 24.0–31.0), 7 (IQR = 6.0–8.0) and 5 points (SD = 1.9) respectively. Of the participants, 43.5% (103/237) had good knowledge, 48.1% (114/237) had a good attitude, and 54.4% (129/237) had good practice scores on childhood TB. In the multivariate analysis, clinical officers and individuals with 1–5 years’ work experience at the facility had higher odds, 2.61 (95% CI = 1.18–5.80, p = 0.018) and 3.09 (95% CI = 1.69–5.65, p = 0.001) of having good attitude respectively, and medical doctors had 0.17 lower odds (95% CI = 0.18–5.80, p = 0.018) of good childhood TB practice. Other participant characteristics didn’t show a significant association with the scores.

Conclusion
The study found suboptimal levels of knowledge, attitude, and practices regarding childhood TB among HCWs. Targeted programmatic support needs to be provided to address the above gaps.
Two–Dimensional and Doppler trans-thoracic echocardiographic patterns of suspected pediatric heart diseases at Tibebe-—Ghion specialized Teaching Hospital and Adinas General Hospital, Bahir Dar, North-west Ethiopia:–An experience from an LMIC
Authors: Gelaw Tesfaye Taye , Yehuala Amare Aschalew , Mengste Senay Zerihun , Yimer Yalemwork Anteneh , Engida Habtamu Bayih , Alem Abiot Tefera 
Published: March 2024

BackgroundTransthoracic Echocardiography is the first-line, non-invasive, and accessible imaging modality to evaluate heart disease anatomy, physiology, and hemodynamics. We aim to describe the trans-thoracic echocardiography pattern of pediatric heart diseases and reasons for referral in children referred to Bahir Dar University Tibebe–Ghion Hospital and Adinas General Hospital.MethodA descriptive cross-sectional study of the archived Transthoracic, Two Dimensional, and Doppler Echocardiography assessments of children from birth to fifteen years of age performed between June 2019 to May 2023 was done. Data were collected retrospectively from February 01, 2023 –May 31, 2023. Categorical variables like gender, referral reasons for echocardiography, and patterns of pediatric heart lesions were analyzed in the form of proportions and presented in tables and figures. Discrete variables including age were summarized as means (SD) and medians(IQR).ResultsOut of 3,647 Children enrolled; 1,917 (52.6%) were males and 1,730 (47.4%) were females. The median (IQR) age of children enrolled was 24 months (5 to 96). Cardiac murmur (33%) was the most common reason for echocardiography followed by, Respiratory Distress (18%), Syndromic Child (15%), easy fatigability/ Diaphoresis (14.3%), congestive heart failure (14%), and rheumatic fever (13.2%). Congenital heart defect (CHD) accounts for 70% of all heart diseases, followed by rheumatic heart disease (21%). Isolated ventricular septal defect(VSD) was the most common CHD (21%) followed by isolated Patent ductus arteriosus (15%), isolated atrial septal defect (10%), Isolated atrioventricular septal defect (6%) and isolated pulmonary stenosis (5%). Cyanotic CHD accounts for 11.5% of all heart diseases. Tetralogy of Fallot (30%), d-TGA (20%), and double outlet right ventricle (19%) were the most common cyanotic CHDs.ConclusionsIn our study, congenital heart lesions are the most common diagnosis and cardiac murmurs are the most common presenting reasons for echocardiography evaluation.
Prognostic risk models for incident hypertension: A PRISMA systematic review and meta-analysis
Authors: Schjerven Filip Emil , Lindseth Frank , Steinsland Ingelin 
Published: March 2024

Objective
Our goal was to review the available literature on prognostic risk prediction for incident hypertension, synthesize performance, and provide suggestions for future work on the topic.

Methods
A systematic search on PUBMED and Web of Science databases was conducted for studies on prognostic risk prediction models for incident hypertension in generally healthy individuals. Study-quality was assessed using the Prediction model Risk of Bias Assessment Tool (PROBAST) checklist. Three-level meta-analyses were used to obtain pooled AUC/C-statistic estimates. Heterogeneity was explored using study and cohort characteristics in meta-regressions.

Results
From 5090 hits, we found 53 eligible studies, and included 47 in meta-analyses. Only four studies were assessed to have results with low risk of bias. Few models had been externally validated, with only the Framingham risk model validated more than thrice.
The pooled AUC/C-statistics were 0.82 (0.77–0.86) for machine learning models and 0.78 (0.76–0.80) for traditional models, with high heterogeneity in both groups (I2 > 99%). Intra-class correlations within studies were 60% and 90%, respectively. Follow-up time (P = 0.0405) was significant for ML models and age (P = 0.0271) for traditional models in explaining heterogeneity. Validations of the Framingham risk model had high heterogeneity (I2 > 99%).

Conclusion
Overall, the quality of included studies was assessed as poor. AUC/C-statistic were mostly acceptable or good, and higher for ML models than traditional models. High heterogeneity implies large variability in the performance of new risk models. Further, large heterogeneity in validations of the Framingham risk model indicate variability in model performance on new populations.
To enable researchers to assess hypertension risk models, we encourage adherence to existing guidelines for reporting and developing risk models, specifically reporting appropriate performance measures. Further, we recommend a stronger focus on validation of models by considering reasonable baseline models and performing external validations of existing models. Hence, developed risk models must be made available for external researchers.
Development and validation of the Informal Supporter Readiness Inventory (ISRI)
Authors: Davies Ryan L. , Rice Kylie , Rock Adam J. 
Published: March 2024

Objective
This article outlines the development and validation of the Informal Supporter Readiness Inventory (ISRI), based on the model developed by the present authors in (Davies, 2023). This scale assesses the readiness of informal supporters to intervene or provide support in situations of intimate partner violence (IPV).

Methods
The research followed a three-phased procedure of item development, scale development, and scale evaluation; adhering to best practice guidelines for psychometric development and validation. This process provided empirical substantiation for the domains of the Model of Informal Supporter Readiness (Davies, 2023).

Results
The 57-item ISRI incorporates four primary factors: normative, individual, goodman-emotional, and situational-assessment. These factors demonstrated robust internal consistency and factor structures. Additionally, the ISRI evidenced strong test-retest reliability, and both convergent and divergent validity. Although aligning closely with the Model of Informal Supporter Readiness, the scale revealed a nuanced bifurcation of situational factors into situational-emotional and situational-assessment.

Discussion
The ISRI offers an important advancement in IPV research by highlighting the multifaceted nature of informal supporter intervention. The findings have several implications, from tailoring individualised supportive interventions to strengthening support networks and empowering survivors. The present study’s findings underscore the potential of adopting a social network-oriented approach to interventions in IPV scenarios. Applications for research and practice are discussed.
Computationally inferred cell-type specific epigenome-wide DNA methylation analysis unveils distinct methylation patterns among immune cells for HIV infection in three cohorts
Authors: Zhang Xinyu , Hu Ying , Vandenhoudt Ral E. , Yan Chunhua , Marconi Vincent C. , Cohen Mardge H. , Wang Zuoheng , Justice Amy C. , Aouizerat Bradley E. , Xu Ke 
Published: March 2024

Background
Epigenome-wide association studies (EWAS) have identified CpG sites associated with HIV infection in blood cells in bulk, which offer limited knowledge of cell-type specific methylation patterns associated with HIV infection. In this study, we aim to identify differentially methylated CpG sites for HIV infection in immune cell types: CD4+ T-cells, CD8+ T-cells, B cells, Natural Killer (NK) cells, and monocytes.

Methods
Applying a computational deconvolution method, we performed a cell-type based EWAS for HIV infection in three independent cohorts (Ntotal = 1,382). DNA methylation in blood or in peripheral blood mononuclear cells (PBMCs) was profiled by an array-based method and then deconvoluted by Tensor Composition Analysis (TCA). The TCA-computed CpG methylation in each cell type was first benchmarked by bisulfite DNA methylation capture sequencing in a subset of the samples. Cell-type EWAS of HIV infection was performed in each cohort separately and a meta-EWAS was conducted followed by gene set enrichment analysis.

Results
The meta-analysis unveiled a total of 2,021 cell-type unique significant CpG sites for five inferred cell types. Among these inferred cell-type unique CpG sites, the concordance rate in the three cohorts ranged from 96% to 100% in each cell type. Cell-type level meta-EWAS unveiled distinct patterns of HIV-associated differential CpG methylation, where 74% of CpG sites were unique to individual cell types (false discovery rate, FDR <0.05). CD4+ T-cells had the largest number of unique HIV-associated CpG sites (N = 1,624) compared to any other cell type. Genes harboring significant CpG sites are involved in immunity and HIV pathogenesis (e.g. CD4+ T-cells: NLRC5, CX3CR1, B cells: IFI44L, NK cells: IL12R, monocytes: IRF7), and in oncogenesis (e.g. CD4+ T-cells: BCL family, PRDM16, monocytes: PRDM16, PDCD1LG2). HIV-associated CpG sites were enriched among genes involved in HIV pathogenesis and oncogenesis that were enriched among interferon-α and -γ, TNF-α, inflammatory response, and apoptotic pathways.

Conclusion
Our findings uncovered computationally inferred cell-type specific modifications in the host epigenome for people with HIV that contribute to the growing body of evidence regarding HIV pathogenesis.
ENTRE O SILÊNCIO E A FALA
Authors: Bandeira Gustavo Andrada 
Published: March 2024

O futebol de espetáculo jogado por homens é um espaço de produção e circulação de masculinidades cisheteronormativas. Ao mesmo tempo, nesse ambiente também conseguimos visualizar formas de resistência contra esse modelo normativo. Essas formas de resistência vêm ganhando visibilidade, especialmente a partir da década de 2010. Neste ensaio, a partir da mudança das manifestações dos ex-atletas Richarlyson e Émerson Ferreti, que em reportagem de 2013 da Revista Placar não afirmavam suas sexualidades não heteronormativas, e que revelaram ser, respectivamente, bissexual e homossexual no podcast Nos armários dos vestiários, em 2022, mais do que procurar problematizar suas narrativas sobre suas sexualidades, tento realizar alguns apontamentos sobre os movimentos ocorridos no que podemos chamar de “cultura futebolística” nessa quase década que separam as duas manifestações.