Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population by Yinghao Yao, Xingyong Li, Lan Wu, Jia Zhang, Yuanyuan Gui, Xiangyi Yu, Yang Zhou, Xuefei Li, Xinyu Liu, Shilai Xing, Gang An, Zhenlin Du, Hui Liu, Shasha Li, Xiaoguang Yu, Myopia Associated Genetics Intervention and Consortiums, Hua Chen, Jianzhong Su, Shihao Chen

“…Methods A total of 830 individuals diagnosed with KC and 779 controls from a Chinese cohort were enrolled and genotyped by whole-genome sequencing (WGS). …”
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Incidence and risk factors for clinical omphalitis among neonates in Eastern Uganda using chlorhexidine gel for cord care: a community-cohort study by John Wogabaga, Kathy Burgoine, Abel Kakuru, Brendah Nambozo, Martin Chebet, Josephine Tumuhamye, Benon Wanume, Faith Oguttu, Milton W. Musaba, Agnes Napyo, Solomon Wani, Peter Olupot-Olupot, Andrew D. Weeks, Thorkild Tylleskär, David Mukunya

“…Results A total of 2052 neonates were enrolled; half of which were female (51.1%). The incidence of omphalitis was 3.0% (62/2052; 95% confidence interval (CI): 1.9%, 4.4%). …”
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Developing a clinical prediction model to modify empirical antibiotics for non-typhoidal Salmonella bloodstream infection in children under-five in the Democratic Republic of Congo by Bieke Tack, Daniel Vita, Jules Mbuyamba, Emmanuel Ntangu, Hornela Vuvu, Immaculée Kahindo, Japhet Ngina, Aimée Luyindula, Naomie Nama, Tito Mputu, Justin Im, Hyonjin Jeon, Florian Marks, Jaan Toelen, Octavie Lunguya, Jan Jacobs, Ben Van Calster

“…Results NTS bloodstream infection was diagnosed in 12.7% (295/2327) of enrolled children. The area under the curve was 0.79 (95%CI: 0.76–0.82) for the prediction model, and 0.78 (0.85–0.80) for the scoring system. …”
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Differentiating Pulmonary Nodule Malignancy Using Exhaled Volatile Organic Compounds: A Prospective Observational Study by Guangyu Lu, Zhixia Su, Xiaoping Yu, Yuhang He, Taining Sha, Kai Yan, Hong Guo, Yujian Tao, Liting Liao, Yanyan Zhang, Guotao Lu, Weijuan Gong

“…Results A total of 267 participants were enrolled, including 210 with low‐risk and 57 with moderate‐risk pulmonary nodules. …”
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Use of cannabis during pregnancy and birth outcomes in an Aboriginal birth cohort: a cross-sectional, population-based study by Deirdre Gartland, Stephanie J Brown, Karen Glover, Fiona K Mensah, Cathy Leane, Jane Yelland, Jackie Ah Kit, Deanna Stuart-Butler, Donna Weetra, Jonathan Newbury

“…Data include: maternal cannabis use, exposure to stressful events/social health issues, infant birth weight and gestation.Participants 344 eligible women with a mean age of 25 years (range 15–43 years), enrolled in the study. Participants were representative in relation to maternal age, infant birth weight and gestation.Results 1 in 5 women (20.5%) used cannabis during pregnancy, and 52% smoked cigarettes. …”
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Belimumab versus telitacicept in sequential treatment after rituximab for refractory lupus nephritis: a real-world multicentre study by Fei Han, Hong Pan, Yi Yang, Jianghua Chen, Jing Xue, Lan Lan, Yiting Chen, Pingping Ren, Yaomin Wang, Xin Lei, Jianhang Xu, Xiaochan Chen, Qiankun Zhang, Junni Wang, Nan Shi, Liangliang Chen, Lie Jin

“…The aim of this study is to compare the efficacy of rituximab (RTX) followed by belimumab or telitacicept in a real-world cohort.Methods A total of 49 refractory lupus nephritis patients were enrolled from four independent centres, subsequently categorised into two treatment groups: belimumab group (n=35) and telitacicept group (n=14) based on their treatment following RTX. …”
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Adaptive coping mechanisms use and associated factors among adult glaucoma patients attending the University of Gondar Comprehensive Specialized Hospital, Tertiary Eye Care and Tra... by Bisrat Misganaw Geremew, Biruk Fanta Alemayehu, Getenet Shumet Birhan, Biruk Lelisa Eticha, Mahtot Leykun Sisay, Woretaw Endalew Melese, Abebe Tilahun Mekonenne

“…This study aimed to assess the proportion of ACM and associated factors among adult glaucoma patients enrolled at the tertiary eye care and training centre in Northwest Ethiopia.Design An institution-based cross-sectional study.Setting This study was conducted at a tertiary eye care and training centre in Northwest Ethiopia from 15 May 2022 to 30 June 2022.Participants The study included a sample of 398 adult glaucoma patients selected using a systematic random sampling technique.Primary and secondary outcome measures The participants were diagnosed with glaucoma by ophthalmologists. …”
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Immune checkpoint inhibitor‐related type 1 diabetes incidence, risk, and survival association by Fumika Kamitani, Yuichi Nishioka, Miyuki Koizumi, Hiroki Nakajima, Yukako Kurematsu, Sadanori Okada, Shinichiro Kubo, Tomoya Myojin, Tatsuya Noda, Tomoaki Imamura, Yutaka Takahashi

“…Patients administered ICI between 2014 and 2022 were enrolled in the study, including 21,121 patients. The risk factors for ICI‐T1DM development and their characteristics were evaluated by logistic regression analysis. …”
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Prediction model study focusing on eHealth in the management of urinary incontinence: the Personalised Advantage Index as a decision-making aid by Huibert Burger, Henk van der Worp, Marco H Blanker, Marjolein Y Berger, Anne Martina Maria Loohuis, Nienke Wessels, Janny Dekker, Alec GGA Malmberg

“…Objective To develop a prediction model and illustrate the practical potential of personalisation of treatment decisions between app-based treatment and care as usual for urinary incontinence (UI).Design A prediction model study using data from a pragmatic, randomised controlled, non-inferiority trial.Setting Dutch primary care from 2015, with social media included from 2017. Enrolment ended on July 2018.Participants Adult women were eligible if they had ≥2 episodes of UI per week, access to mobile apps and wanted treatment. …”
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Early Changes in Tumor Perfusion from T1-Weighted Dynamic Contrast-Enhanced MRI following Neural Stem Cell-Mediated Therapy of Recurrent High-Grade Glioma Correlate with Overall Su... by Prativa Sahoo, Paul Frankel, Julie Ressler, Margarita Gutova, Alexander J. Annala, Behnam Badie, Jana Portnow, Karen S. Aboody, Massimo D’Apuzzo, Russell C. Rockne

“…A total of 12 patients were included in this retrospective study. All patients were enrolled in a first-in-human study (NCT01172964) of NSC-mediated therapy for recurrent high-grade glioma. …”
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Correlations among lymphocyte count, white matter hyperintensity and brain atrophy in patients with ischemic stroke by Chenchen Liu, Dai Shi, Xiaoqiong Ni, Shoujiang You, Shoujiang You, Xiaofen Wu, Sheng Zhuang, Sheng Zhuang, Wu Cai, Liang Xu, Liang Xu

“…We aimed to explore the association between lymphocyte count, a maker of inflammation, and WMH and brain atrophy in patients with acute ischemic stroke (AIS).MethodsA total of 727 AIS patients with lymphocyte count and brain magnetic resonance imaging data were enrolled. Participants were divided into four groups according to the quartiles of baseline lymphocyte counts. …”
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Efficacy and Safety of CART Cell Therapy in Aggressive B‐Cell Lymphomas Involving the Gastrointestinal Tract by Lixia Ma, Yimeng Dou, Rui Liu, Teng Xu, Fan Yang, Peihao Zheng, Shaomei Feng, Yuelu Guo, Hui Shi, Fei Xue, Biping Deng, Xiaoyan Ke, Kai Hu

“…Methods During the period from May 2019 to August 2022, a total of 26 patients recurrent/refractory with recurrent/refractory B‐cell lymphoma involving the gastrointestinal tract enrolled. Pathology confirmed CD19 antigen expression in tumor tissues. …”
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Comparative Analysis of Automated and Handheld Breast Ultrasound Findings for Small (≤1 cm) Breast Cancers Based on BI-RADS Category by Han Song Mun, Eun Young Ko, Boo-Kyung Han, Eun Sook Ko, Ji Soo Choi, Haejung Kim, Myoung Kyoung Kim, Jieun Kim

“…Patients with tumors measuring ≤1 cm on either modality were enrolled. Two breast radiologists retrospectively evaluated multiple imaging features, including shape, orientation, margin, echo pattern, and posterior characteristics and assigned BI-RADS categories. …”
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Can smoking duration alone replace pack-years to predict the risk of smoking-related oncogenic mutations in non-small cell lung cancer? A cross-sectional study in Japan by Masahiko Ando, Yoshihiko Taniguchi, Akihiro Tamiya, Akihide Matsumura, Koichi Ogawa, Yasuhiro Koh, Hiroyasu Kaneda, Motohiro Izumi, Yoshiya Matsumoto, Kenji Sawa, Mitsuru Fukui, Naoki Yoshimoto, Akihito Kubo, Shun-ichi Isa, Hideo Saka, Tomoya Kawaguchi

“…Objective To investigate whether smoking duration alone can replace pack-years to predict the risk of oncogenic mutations in non-small cell lung cancer (NSCLC).Design A cross-sectional study using the baseline dataset from the Japan Molecular Epidemiology for Lung Cancer Study.Setting Forty-three medical institutions nationwide in Japan.Participants From July 2012 to December 2013, 957 patients with newly diagnosed stage I–IIIB NSCLC who underwent surgery were enrolled, and molecular analyses were performed on 876 samples (from 441 ever-smokers and 435 never-smokers).Main outcomes measured We calculated the area under the receiver operating characteristic curve (AUC) values using logistic regression to compare between the predictive values of smoking duration and pack-years for mutational frequencies in the v-Ki-ras2 Kirsten rat sarcoma (KRAS), tumour suppressor p53 (TP53), and epidermal growth factor receptor (EGFR) genes and for cytosine-to-adenine base substitution (C>A).Results For predicting KRAS mutations, the AUC values for smoking duration and pack-years were 0.746 (95% CI 0.682 to 0.800) and 0.759 (95% CI 0.700 to 0.810), respectively (p=0.058). …”
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Effect of prenatal multiple micronutrient supplementation on birth weight in Ethiopia: protocol for a pragmatic cluster-randomised trial by Joanna Schellenberg, Charles Opondo, Tanya Marchant, Lars Åke Persson, Masresha Tessema, Atkure Defar, Alemneh Kabeta Daba, Girum Taye, Senait Alemayehu, Elias Asfaw, Anene Tesfa, Bedasa Tessema, Kalkidan Zenebe

“…During the study period, the birth weights of all eligible babies born in enrolled health facilities in these 42 districts are continuously recorded alongside data on maternal receipt and use of either multiple micronutrient or iron-folic acid supplementation. …”
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Prevalence of Vitamin K2 Deficiency and Its Association with Coronary Artery Disease: A Case–Control Study by Sameh A. Ahmed, Abdulaziz A. Yar, Anas M. Ghaith, Rayan N. Alahmadi, Faisal A. Almaleki, Hassan S. Alahmadi, Waleed H. Almaramhy, Ahmed M. Alsaedi, Man K. Alraddadi, Hussein M. Ismail

“…Methods: This case–control study enrolled CAD patients and healthy controls to assess and compare serum concentrations of two vitamin K2 analogs including menaquinone-4 (MK-4) and menaquinone-7 (MK-7) via ultra-performance liquid chromatography with tandem mass spectrometry (UPLC-MS/MS). …”
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Sofosbuvir-Based Therapies for Patients with Hepatitis C Virus Infection: Real-World Experience in China by Chengguang Hu, Guosheng Yuan, Junwei Liu, Huaping Huang, Yanyu Ren, Yinping Li, Xuefu Chen, Wei Li, Tao Wu, Hong Deng, Yanzhong Peng, Yong-Yuan Zhang, Yuanping Zhou

“…A total of 226 patients receiving SOF plus daclatasvir (DCV), ledipasvir (LDV), or velpatasvir (VEL) were enrolled from December 2014 to June 2017. The primary observation point was the percentage of patients with a sustained virologic response (SVR) at posttreatment week 12 (SVR12), and all adverse events were monitored during treatment and follow-up period. …”
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Longitudinal associations between air pollution and incident dementia as mediated by MRI-measured brain volumes in the UK Biobank by Rhiannon Thompson, Xinning Tong, Xueyi Shen, Jinjun Ran, Shengzhi Sun, Xiaoxin Iris Yao, Chen Shen

“…Methods: UK Biobank is a large long-term study of 500,000 adults enrolled from 2006 to 2010 age 40–69 years. ICD-10 classified reports of dementia cases up to 2022 (Alzheimer’s disease, vascular dementia, dementia in other classified diseases, and unspecified dementia) were identified from health record linkage. …”
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Low transthyretin is associated with the poor prognosis of colorectal cancer by Zhe Zhang, Zhe Zhang, Zhe Zhang, Chenhao Hu, Chenhao Hu, Chenhao Hu, Feiyu Shi, Feiyu Shi, Feiyu Shi, Lei Zhang, Lei Zhang, Lei Zhang, Ya Wang, Ya Wang, Yujie Zhang, Yujie Zhang, Yujie Zhang, Xiaojiang Zhang, Xiaojiang Zhang, Xiaojiang Zhang, Junjun She, Junjun She, Junjun She

“…Furthermore, an additional cohort of 377 CRC patients enrolled between January 2014 and December 2015 was included as an external validation.ResultsBased on the optimal cut-off value of 121.3 mg/L, we divided the patients into the TTR-lower group (<121.3 mg/L) and the TTR-higher group (≥121.3 mg/L). …”
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Biomarkers of pembrolizumab efficacy in advanced anal squamous cell carcinoma: analysis of a phase II clinical trial and a cohort of long-term responders by Jeffrey A Meyerhardt, Sunil Kumar, Jessica A Zerillo, Aparna Parikh, James M Cleary, Scott Rodig, Benjamin Schlechter, Kimmie Ng, Stephanie K Dougan, Nora Horick, Glenn J Hanna, Andrew L Coveler, Anuj K Patel, Nadine J McCleary, Douglas A Rubinson, Jeffrey W Clark, Kent Mouw, Kathleen Pfaff, Thomas A Abrams, Matthew B Yurgelun, Eliezer M Van Allen, S Jennifer Wang, Leah H Biller, Harshabad Singh, Emma L Welsh, Brandon M Huffman, Lestat R Ali, Megan T Hoffman, Katherine A Metayer, Shayla Murray, Alexandra Bird, Jennifer A Chan, Wolfram Goessling, Jeffrey S Wisch, Brendan Reardon, Robert J Mayer, Catherine Del Vecchio Fitz, Charlotte Kuperwasser

“…Background Recent trials suggest that programmed cell death 1 (PD-1)-directed immunotherapy may be beneficial for some patients with anal squamous cell carcinoma and biomarkers predictive of response are greatly needed.Methods This multicenter phase II clinical trial (NCT02919969) enrolled patients with metastatic or locally advanced incurable anal squamous cell carcinoma (n=32). …”
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