bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quality of Life in Children with Anorectal Malformations through years after surgery, an observational study
Authors: Nakhjiri Mobina Taghva , Shahmansouri Nazila , Shariat Mamak , Varnosfaderani Atefe Gilan , Adel Maryam Ghavami 
Published: October 2024

Abstract

Purpose: The primary objective of this study is to assess the Quality of Life (QOL) of children who have undergone surgery for ARM.
Methods: All the children aged 6-12 years old who had undergone surgery for ARM between 2012 and 2023 at our medical center were included in the study. The parents of 46 children participated in the study and completed the PedsQL 4.0 questionnaire.
Results: The mean age of the participants during the study period was 8.63 ± 1.69 years. The mean of the total QOL score of the participants was 92.65 from 100. The physical functioning had a mean of 97.09 from 100. The emotional functioning had a mean of 87.07 from 100. The mean of social functioning scores was 94.46 and the mean of school functioning scores was 89.35.
Conclusion: We concluded that as the children with ARM get older, the social component of QOL increases and the later the operation is performed in infancy, the better the emotional component of QOL will be through the years after surgery.
Minimally Invasive Mitral Valve Replacement Redo Surgery under Ventricular Fibrillation in a Patient with Dextrocardia and Situs Inversus Totalis: A Case Report
Authors: Han Yu , Zheng Junnan , Nadapana Pranav , Bagaskara Yedija , Lai Yilin , Zhao Haige 
Published: October 2024

Abstract

Background
Dextrocardia is a rare cardiac malposition where the heart’s normal orientation is reversed and is most commonly associated with situs inversus totalis (SIT). Such cases are technically challenging when heart surgery is needed, especially re-do surgery.
Case presentation:
A 72-year-old female patient was referred to our hospital with complaints of chest tightness and reduced activity tolerance. The patient had a history of mitral valve replacement (MVR) with a bioprosthesis ten years prior. Chest X-ray showed dextrocardia with SIT in the patient. Structural valve degeneration of the mitral bioprosthesis and moderate tricuspid regurgitation were observed by transthoracic echocardiography. The patient underwent a successful re-do mitral valve replacement under ventricular fibrillation (VF) via a left anterolateral mini-thoracotomy. The recovery of the patient was uneventful.
Conclusions
Redo MVR under VF without aortic cross-clamping through a mini-thoracotomy can be safely and effectively carried out in patients with SIT.
Optimized NGS-based de novo MET amplification detection for improved lung cancer patient management
Authors: Cabello-Aguilar Simon , Vendrell Julie A. , Evrard Solène , Thomas Quentin , Roch Benoît , Escudié Frédéric , Solassol Isabelle , Brousset Pierre , Mazières Julien , Solassol Jérôme 
Published: October 2024

Abstract

Background: MET amplification (METamp) is a noteworthy genomic alteration that can occur in patients with non-small cell lung cancer (NSCLC). It has been demonstrated to occur as a primary oncogenic driver that may exist prior to any treatment and is referred to as de novo METamp. Despite the recognized significance of this genetic alteration, routine large-scale screening for the early detection of de novo METamp is currently lacking in clinical practice and the clinical impact of de novo METamp in NSCLC remains poorly investigated.
Methods: In this study, we developed a NGS-based screening method for detecting and stratifying METamp optimized in silico, validated in a patient cohort (n = 72) and applied to 1,932 NSCLC patients. Clinical outcomes (OS and PFS) were assessed in de novo METamp cases (n = 46).
Results: The optimized NGS-based method achieved high confidence (F-score > 0.99) during in silico optimization. In vivo validation demonstrated high sensitivity (0.93) and specificity (0.97) compared to fluorescent in situ hybridization. de novo METamp was found in 2.4% of cases stratified into distinct amplification groups based on the amplification copy number ratio (CNR): Low- (1.5 < CNR ≤ 2.2), Medium- (2.2 < CNR ≤ 4), and High-amplification (CNR > 4). Significant differences in patient outcome (p < 0.001) were observed between the Low- (median OS: 35.9 months), Medium- (median OS: 14.3 months) and High-amplification (median OS: 3.3 months) groups. PFS under chemotherapy was notably reduced in the Medium/High-amplification groups compared to the Low-amplification group (p = 0.001).
Conclusions: Screening for METamp detection followed by stratification based on METamp levels may be considered in all NSCLC patients at diagnosis. This approach could potentially enhance treatment management effectiveness by facilitating inclusion in clinical trials.
Low-cost acrylic cranioplasty using an implant cast on a pre-printed 3D polylactic acid model in a child with a complicated osteolytic extradural hydatid cyst
Authors: Borni Mehdi , Kammoun Brahim , Taallah Marouen , Abdelmouleh Souhir , Boughariou Jihen , Boudawara Mohamed Zaher 
Published: October 2024

Abstract

Cranioplasty to restore calvarial defects involves reconstruction with alloplastic materials or autologous tissues in order to provide the best protection to all intracranial contents. Sometimes, autologous bone may not be available; therefore, different materials have emerged such as polymethylmethacrylate plate, titanium mesh, and hydroxyapatite. However, when it is impossible to replace the autologous bone, the aesthetic result is generally unsatisfactory. Some techniques like neuronavigation and computer-aided design can help overcome these problems. However, these techniques cost too much. By combining these techniques and that of 3D printing, some authors have provided an aesthetically precise and cost-effective implant using polymethylmethacrylate in patients with large craniectomy defects. Here, the authors report a case of a 6-year-old child with history of two previous surgeries for osteolytic extradural and complicated hydatid cyst followed by intra cerebral dissemination who was admitted for recurrence of his hydatid pathology. The child was scheduled for hydatid cysts resection and cranioplasty using the polymethylmethacrylate, after removal of the hydatid cysts, using a bone flap cast on a pre-printed cost effective polylactic acid 3D mold.
Mapping the intersection of demographics, behaviour, and government response to the COVID-19 pandemic
Authors: Bowdish Dawn , Kennedy Katherine , DeJong Erica , Chan Alexander , Kennedy Allison , Jamal Alainna , Surette Michael , Larché Maggie ,   Mark Larch&#x00E;, Hambly Nathan , Ask Kjetil , Atkinson Stephanie , McNicholas Paul , McGeer Allison , Coleman Brenda 
Published: October 2024

Abstract

During the early phase of the COVID-19 pandemic (March 2020-August 2021), the Province of Ontario enacted restrictions and recommendations that changed over time. We assessed individual and systemic factors shaping behaviours and contributing to exposure risk during this time. Participants across all age groups and health statuses adapted their behaviours in response to evolving regulations but older individuals and those with pre-existing conditions had the largest change in behaviour and when they developed COVID-19 or other influenza-like illnesses, had the most severe symptoms. Our analysis underscores the responsiveness of exposure risk to government-imposed restrictions, with increased stringency coinciding with decreased exposure risk among participants. These findings collectively emphasize the interplay between demographic factors and government interventions in shaping individual behaviours over the course of the pandemic. Understanding these dynamics is crucial for informing targeted interventions and mitigating the impact of future pandemics.
Fatigue, pain and faecal incontinence in adult Inflammatory Bowel Disease patients and the unmet need: a national cross-sectional survey
Authors: Hart Ailsa , Miller Laura , Büttner Fionn Cléirigh , Hamborg Thomas , Saxena Sonia , Pollok Richard CG , Stagg Imogen , Wileman Vari , Aziz Qasim , Czuber-Dochan Wladyslawa , Dibley Lesley , Mihaylova Borislava , Moss-Morris Rona , Roukas Chris , Norton Christine 
Published: October 2024

Abstract

Background and aims:
The co-existence of fatigue, pain and faecal incontinence in people with Inflammatory Bowel Disease (IBD) is unknown. We aimed to determine the presence of and relationship between these symptoms and patients’ desire for intervention.
Methods:
Adults with IBD in the UK , recruited form clinics, the national IBD-BioResource, a patient charity and social media sources, completed PROMIS validated patient-reported questionnaires to identify fatigue, pain and faecal incontinence, in addition to symptom severity and impact, disease activity, anxiety and depression questionnaires and questions about their desire for help with these symptoms. Statistical analysis used descriptive statistics to report presence of symptoms and Pearson correlation coefficients were calculated.
Results:
Of 8486 responses, 54% reported faecal incontinence, 24% reported fatigue, and 21% reported pain; 10% reported all three symptoms in the past 7 days. Only 29% reported none of these symptoms. Fatigue and pain were moderately correlated (Pearson correlation coefficient 0.57); both fatigue and pain had a lower correlation with faecal incontinence (0.43 and 0.46 respectively). On a 0-10 scale for severity, participants scored fatigue highest, followed by incontinence then pain. For impact, participants scored incontinence highest, followed by fatigue then pain. 56% reported depression (27% with clinically relevant levels) and 49% reported anxiety (20% with clinically relevant levels); 23% had previously medically diagnosed mental health disorders. 56% of respondents “definitely” wanted help for fatigue; 53% for incontinence; 42% for pain; 29% “definitely” wanted help with all three symptoms. Factors associated with all three symptoms were Crohn’s disease (compared with ulcerative colitis), IBD Control score, anxiety, depression, and a history of surgery.
Conclusions: Fatigue, pain and incontinence are common in IBD and patients desire help for these symptoms, currently a substantial unmet need. Anxiety and depression are common, are underdiagnosed, and are independently associated with these symptoms.
Whole Genome Sequence Analysis of Pulmonary Function and COPD in 44,287 Multi-ancestry Participants
Authors: Kim Wonji , Hu Xiaowei , Kim Kangjin , Chun Sung , Orchard Peter , Qiao Dandi , Ruczinski Ingo , Saferali Aabida , Aguet Francois , Antonacci-Fulton Lucinda , Balte Pallavi P. , Bartz Traci M. , Anamika Wardatul Jannat , Zhou Xiaobo , Duan JunYi , Brody Jennifer A. , Cade Brian E. , Daviglus Martha L. , Doddapaneni Harshavadran , Dugan-Perez Shannon , Dutcher Susan K , Frazer Chris , Gabriel Stacey B. , Gharib Sina A. , Gupta Namrata , Hobbs Brian D. , Kasela Silva , Loehr Laura R. , Metcalf Ginger A. , Muzny Donna M. , Oelsner Elizabeth C. , Rasmussen-Torvik Laura J. , Sitlani Colleen M. , Smith Joshua D. , Sofer Tamar , Xu Hanfei , Yu Bing , Zhang David , Ziniti John , Barr R. Graham , Carson April P. , Fornage Myriam , Hou Lifang , Kalhan Ravi , Kaplan Robert , Lappalainen Tuuli , London Stephanie J. , Morrison Alanna C. , O'Connor George T. , Psaty Bruce M. , Raffield Laura M. , Redline Susan , Rich Stephen S. , Rotter Jerome I. , Silverman Edwin K. , Manichaikul Ani , Cho Michael H. 
Published: October 2024

Abstract

Background
Whole genome sequence (WGS) data in multi-ancestry samples provide the opportunity to identify low-frequency or population-specific genetic variants associated with chronic obstructive pulmonary disease (COPD) and lung function.
Methods
We performed single variant, structural variant, and gene-based analysis of pulmonary function (FEV1, FVC and FEV1/FVC) and COPD case-control status in 44,287 multi-ancestry participants from the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. We validated a subset of findings using the UK Biobank, implicated effector molecules, and examined cell-type specific expression in lung scRNA-seq data sets.
Results
Applying a genome-wide significance threshold (P < 5x10-9) to our WGS analysis, we recapitulated evidence of association for previously reported loci, and further found evidence of association with lung function or COPD for novel regions located near LY86, MAGI1, and GRK7. Colocalization with gene expression quantitative trait loci (eQTL) from the Lung Tissue Research Consortium provided new support for known candidate genes including ADAM19, THSD4, C4B, and PSMA4, which were not specifically identified through integration with eQTL from other sources. Multi-ancestry analysis improved fine-mapping resolution, notably for loci with strong linkage disequilibrium in European ancestry, such as those near HTR4 and RIN3. In gene-based analysis of high-confidence loss of function variants, we found and replicated an association of HMCN1. Single-cell datasets nominated lung epithelial cells and immune cell types from our association studies, and fibroblasts for HMCN1. CRISPR targeting HMCN1 in IMR90 demonstrated reduced expression of collagen genes.
Conclusions
Our study demonstrates that genome-wide association study with larger multi-ancestry participants and WGS data helped to discover novel genomic regions and improved fine-mapping resolution for lung function and COPD.
Single-cell analysis supports key cell subpopulations for drug resistance and metastasis in prostate cancer
Authors: Zhao Hongfei , Li Jiaxuan , Yuan Ting , Sun Qi , Wang Guangkuo , Fang Han , Liu Huifang , Wang Yao , Song Xicheng 
Published: October 2024

Abstract

Although the long-term survival rate of localized prostate cnacer is high, prostate cancer is prone to drug resistance and metastasis after intensive multimodal therapy, significantly shortening patient survival. However, the mechanisms by which drug resistance and metastasis occur in prostate cancer are unknown, and there are no effective targeted drugs to treat metastatic prostate cancer. Therefore, the goal of this study was to construct a single-cell transcriptome atlas of prostate cancer by using single-cell RNA sequencing data through bioinformatics techniques, to explore the changes in abundance and function of different cell subpopulations during drug resistance and metastasis, and to speculate on the molecular pathways that may lead to drug resistance and metastasis. We analyzed the tumor cell subpopulation and predicted that the ASCL1, RORB, RBP1 and CALML5 might be the genes responsible for the development of drug resistance and metastasis, providing potential targets for targeted prostate cancer therapy. In addition, we performed differentiation potential analysis, trajectory analysis, and intercellular communication analysis on tumor cell subpopulations, which identified key ligand-receptor interactions between tumor cells and stromal cells that lead to disease progression, such as CCL5-SDC1/4, ICOSLG-ICOS and CD24-SIGLEC10. Our analysis identified potential targets to treat resistance and metastasis in prostate cancer, suggesting key ligand-receptor interactions that might contribute to disease progression, and provided valuable insights into targeted therapy for prostate cancer.
Exploring the posttreatment care experiences and unmet needs of breast cancer survivors: a descriptive phenomenological study
Authors: Xu Wenjing , Zhang Cuicui , Liao Changju , Zhu Lili , Gong Xue , Zhou Li , Liu Xiangyu 
Published: October 2024

Abstract

Background Addressing the unmet needs of breast cancer survivors’ post-treatment are crucial for enhancing their quality of life and promoting their overall health outcomes. This study aims to explore the unmet needs of post-treatment breast cancer survivors within social ecosystems. It provides a patient perspective for the development of a supportive framework that healthcare providers can use to assess and manage these unmet needs.
Methods Utilizing a qualitative descriptive design, this study conducted semi-structured interviews with twenty breast cancer survivors. Colaizzi’s 7-step method was employed for data analysis.
Results The study identified three themes and nine subthemes: (1) microsystem—normalization and self-growth (management of somatic symptoms and function, maintenance of body image, femininity, and sexuality, and adoption of healthy behaviors); (2) mesosystem—acceptance and respect in the family and workplace (internal to the mesosystem—strengthening family resilience; external to the mesosystem—provision of return-to-work assistance); (3) macrosystem—expansion of the support system (diverse treatment facility support, accessible integration of communities, health and payment policy favoritism, destigmatization of cancer).
Conclusion This study offers new insights into the perspectives of breast cancer survivors regarding unmet needs after completing active treatment. It recommends that the interdisciplinary team offers person-centered, integrated, and coordinated supportive care that addresses the individualized and complex needs of post-treatment breast cancer survivors and their caregivers. Future research should focus on developing survivorship care plan models that prioritize personalized support for individuals recovering from breast cancer treatment.
Prevalence of Malaria and Associated Risk Factors among Febrile Under-five Refugee Children Attending Panyadoli Health Centre III, Kiryandongo District, Mid-western Uganda
Authors: Acan Dorcus , Opiro Robert , Musinguzi Benson , Agaba Bosco B. , Alarakol Simon Peter 
Published: October 2024

Abstract

Background: Malaria presents a big threat to the health of refugees, internally displaced persons, returnees and other such persons affected by humanitarian emergencies, with almost two thirds of these groups of persons living in malaria endemic regions. The aim of this study was to determine the prevalence of malaria and associated risk factors among refugee children <5 years attending a Health Centre in Panyadoli Refugee Camp, Kiryandongo District.
Methods: A cross sectional survey was done between February to April 2022, targeting refugee children < 5 years old seeking health attention at Panyadoli Health Centre III in Kiryandongo District. Simple random sampling was employed to select 380 participants who were then tested for the presence of malaria parasites using Malaria Rapid Diagnostic Tests (RDTS) and Microscopy techniques. Data on risk factors of malaria was collected using a pre-tested and standardized semi-structured questionnaire. Bivariate and multivariate logistic regression analyses was used to identify the risk factors, at 95% confidence interval and p < 0.05.
Results:Malaria prevalence among the refugee children < 5 years attending Panyadoli HCIII was 12.6% [95% CI: 8.7–18.0]. The associated risk factors for malaria infection included: application of Indoor Residual Spraying (IRS) in last 12 months [AOR = 4.323; 95% CI: 1.231–7.212], history of malaria in children (AOR = 5.861; 95% CI: 1.562 - 8.433], and sleeping under insecticide treated nets (AOR = 3.141; 95% CI: 0.865 - 5.221).
Conclusion: Malaria remains a threat to refugee children <5 years old at Panyadoli Refugee Settlement Camp. Health education should aim to sensitize and encourage the community to embrace malaria prevention measures, majorly IPT for pregnant mothers, use of ITNs, and IRS of households.
Association between glycemic variability and 28-day all-cause mortality in patients with ARDS: A retrospective study based on the MIMIC-IV database
Authors: Chen Yubiao , Lu Lifei , Liu Baiyun , Deng Xiumei , Zheng Yongxin , Zeng Yuan , Wang Ke , Guo Xueyan , Zhou Ton , Ye Weiyan , Ji Huaishu , Huang Yongbo , Li Yimin 
Published: October 2024

Abstract

Introduction:
Despite glycemic variability (GV) being a recognized strong independent predictor of mortality in critically ill patients, its association with the prognosis of patients with acute respiratory distress syndrome (ARDS), a common critical condition in the intensive care unit (ICU), remains poorly understood. The objective of the present study was to evaluate the relationship between GV and all-cause mortality in patients with ARDS.
Material and methods
In this retrospective study using the Medical Information Mart for Intensive Care IV database version 2.2 (MIMIC IV v2.2), we evaluated the impact of GV on 28-day all-cause mortality among patients with ARDS admitted to ICU. Patients were included based on the new global definition of ARDS within two days of ICU admission. GV was quantified using the Glycemic Coefficient of Variation (GluCV) calculated within the first three days post-admission. Participants were categorized into three tertiles based on their GluCV (Low: ≤13.88%, N = 1288; Moderate: 13.88%-22.80%, N = 1291; High: >22.80%, N = 1289). Multivariable Cox proportional hazards models were constructed to analyze the association between GluCV and 28-day all-cause mortality in patients with ARDS. Non-linear correlations were explored using restricted cubic splines (RCS). Subgroup analyses were conducted o further investigate the relationship in patient groups defined by age, sex, the severity of ARDS, mean glucose levels with 3 days admission, and history of diabetes.
Results
A total of 3,868 adult ARDS patients were included in this study. Compared to the Low and Moderate groups, the patients in High GluCV group exhibited a higher prevalence of diabetes, more use of insulin and glucocorticoids treatment, and higher levels of mean glucose, CCI, SAPS II and SOFA scores. Multivariable Cox proportional hazards analyses revealed a significant association between GluCV and 28-day all-cause mortality in ARDS patients [continuous GluCV, HR:1.006, 95% CI: 1.002–1.010; tertiles of GluCV, High vs Low GluCV, HR:1.21, 95%CI: 1.03–1.43]. Three-knots RCS curve showed that the risk of mortality increased linearly with higher GluCV. Subgroup analysis revealed that compared with Low GluCV, High GluCV was associated with a higher risk of 28-day all-cause mortality in subgroups defined by male, mild severity of ARDS, mean glucose < 140 mg/dl within the first 3 days admission and without a diabetes history.
Conclusions
GluCV is independently associated with increased 28-day all-cause mortality in ARDS patients and could be used as a valuable tool for mortality risk stratification and guiding the treatment strategies of ARDS in the ICU. Further large prospective clinical studies are needed to evaluate the association between GluCV and mortality in ARDS patients.