The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

“…GS ended diagnostic odysseys with an average length of 15 years (0.5–59), and potentially impacted clinical management in 77% (113/146) of diagnosed probands. Interpretation: This population-based genome project shed light on the consideration of integrating srGS and lrGS in clinical workflows for RDs. …”
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Association of blood group types and clinico-pathological features of gynecological cancers (GCs) by Syed Sameer Aga, Muhammad Anwar Khan, Mubarak Al Mansour, Rana Mohammed Hasosah, Lulu Abdullah Alsubaie, Dala Ahmad Alfaify, Malak Badr Alansari, Shahad Obaidallah Almutairi, Saniya Nissar

“…Among comorbidities, hypertension (HTN), diabetes mellitus (DM), dyslipidemia were the top three affecting GC patients. …”
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Deep learning helps discriminate between autoimmune hepatitis and primary biliary cholangitis by Alessio Gerussi, Oliver Lester Saldanha, Giorgio Cazzaniga, Damiano Verda, Zunamys I. Carrero, Bastian Engel, Richard Taubert, Francesca Bolis, Laura Cristoferi, Federica Malinverno, Francesca Colapietro, Reha Akpinar, Luca Di Tommaso, Luigi Terracciano, Ana Lleo, Mauro Viganó, Cristina Rigamonti, Daniela Cabibi, Vincenza Calvaruso, Fabio Gibilisco, Nicoló Caldonazzi, Alessandro Valentino, Stefano Ceola, Valentina Canini, Eugenia Nofit, Marco Muselli, Julien Calderaro, Dina Tiniakos, Vincenzo L’Imperio, Fabio Pagni, Nicola Zucchini, Pietro Invernizzi, Marco Carbone, Jakob Nikolas Kather

“…The ALNE model was evaluated against clinico-pathological diagnoses and tested for interobserver variability among general pathologists. …”
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Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia by Mary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, Riadh Gouider, Eppie M. Yiu, Eppie M. Yiu, Barbara Pietrucha, Asbjørg Stray-Pedersen, Susan L. Perlman, Steve Wu, Trudy Burgers, Rupam Borgohain, Rukmini Mridula Kandadai, Isabelle Meyts, Giorgia Bucciol, Anaita Udwadia-Hegde, Ravi Yadav, Donna Roberts, Aaron Dane, Maureen Roden, Dirk Thye, Biljana Horn, Howard M. Lederman, William P. Whitehouse

“…Adverse events typically observed with prolonged glucocorticoid use such as Cushingoid features, weight gain, hypertension, hirsutism, diabetes or stunted growth were rarely reported.Clinical trial registrationClinicalTrials.gov, identifiers: NCT02770807 and NCT03563053.…”
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Different exercise interventions on quality of sleep in breast cancer survivors—a network meta-analysis of randomized controlled trials by Qi Song, Qi Song, You-kang Zhu, You-kang Zhu, Hai Liu, Hai Liu, Xiao Liu, Xiao Liu, Zhang-dong Jiang, Yu-jia Wang, Yu-jia Wang, Li-yun Xue, Li-yun Xue, Shao-ying Yang, Shao-ying Yang, Xi-fang Liu

“…Recognizing that various forms of exercise may yield different outcomes in addressing sleep disorders in this population, we conducted a network review meta-analysis to assess the effectiveness of diverse exercise modalities for breast cancer survivors suffering from sleep disturbances.MethodsWe searched four electronic databases for randomized controlled trials of individuals diagnosed breast cancer with sleep disorders by different exercise therapy. …”
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The associations of physical activity patterns and the triglyceride-glucose index in US adults: a secondary data analysis of NHANES (2007–2018) by JinYe Zhang, YiLin Yang, HaoNan Zheng, BoWen Bai, QianKun Yang, Li Zhang, YuTong Zhao, Jing Luo, Bin Yu

“…Stratified analyses and interact tests revealed that the PA-TyG index association in RA group was more pronounced in individuals being male, with higher education levels, and without diabetes. Additionally, a significant, non-linear, and negative relationship between weekly total PA and TyG index in non-inactive individuals was determined by RCS analysis (P for overall < 0.001, P for nonlinearity = 0.054). …”
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Alternative psychopharmacologic treatments for pediatric catatonia: a retrospective analysis by Joshua R. Smith, Joshua R. Smith, Isaac Baldwin, Tasia York, Carina Anderson, Trey McGonigle, Simon Vandekar, Lee Wachtel, James Luccarelli, James Luccarelli

“…A retrospective clinical global impressions-improvement (CGI-I) score was assigned by four authors.Results102 pediatric patients diagnosed with catatonia were identified, and 31 met criteria for the study. 20 (65%) were white, 6 (19%) were Black, 4 (13%) were Hispanic, and 1 (3%) were Indian. …”
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Whole genomic analysis uncovers high genetic diversity of rifampicin-resistant Mycobacterium tuberculosis strains in Botswana by Tuelo Mogashoa, Tuelo Mogashoa, Johannes Loubser, Ontlametse T. Choga, Ontlametse T. Choga, Justice Tresor Ngom, Wonderful T. Choga, Wonderful T. Choga, Mpaphi B. Mbulawa, Tuduetso Molefi, One Stephen, Topo Makhondo, Kedumetse Seru, Patience Motshosi, Boitumelo Zuze, Joseph Makhema, Rosemary M. Musonda, Dimpho Otukile, Chawangwa Modongo, Botshelo T. Kgwaadira, Keabetswe Fane, Simani Gaseitsiwe, Rob M. Warren, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Sikhulile Moyo, Anzaan Dippenaar, Elizabeth M. Streicher

“…This study aimed to describe the genetic diversity of rifampicin-resistant M. tb strains circulating in Botswana using whole genome sequencing (WGS).MethodsThis study included 202 stored M. tb isolates from people diagnosed with rifampicin-resistant TB (RR-TB) between January 2016 and June 2023. …”
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Synthesis of novel titania nanoparticles using corn silky hair fibres and their role in developing a smart restorative material in dentistry by Afsheen Mansoor, Emaan Mansoor, Ezza Mansoor, Efrah Mansoor, Atta Ullah Shah, Uzma Asjid, João Filipe Brochado Martins, Sami Ullah Khan, Paulo J. Palma

“…Results: Confirmation was obtained that the newly synthesised TiO₂ nanoparticles, with a particle diameter of 24.17 nm and a pure rutile phase, displayed a spherical morphology and a smooth surface. …”
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High-throughput methylation sequencing reveals novel biomarkers for the early detection of renal cell carcinoma by Wenhao Guo, Weiwu Chen, Jie Zhang, Mingzhe Li, Hongyuan Huang, Qian Wang, Xiaoyi Fei, Jian Huang, Tongning Zheng, Haobo Fan, Yunfei Wang, Hongcang Gu, Guoqing Ding, Yicheng Chen

“…Abstract Purpose Renal cell carcinoma (RCC) is a common malignancy, with patients frequently diagnosed at an advanced stage due to the absence of sufficiently sensitive detection technologies, significantly compromising patient survival and quality of life. …”
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Lifetime history of concussion among children and adolescents with attention-deficit/hyperactivity disorder: examining differences stratified by age, medication status, and parent-... by Julia E. Maietta, Julia E. Maietta, Julia E. Maietta, Grant L. Iverson, Grant L. Iverson, Grant L. Iverson, Grant L. Iverson, Nathan E. Cook, Nathan E. Cook, Nathan E. Cook, Nathan E. Cook

“…Lifetime history of concussion, current ADHD diagnosed by a healthcare provider, and, for those with current ADHD, ADHD severity (mild or moderate/severe), and current ADHD medication status (yes/no) were reported by parents. …”
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Fractionated robotic radiosurgery for unfavorable nonfunctioning pituitary macroadenoma: 5-year outcomes from a single institution protocol by Akrita Bhatnagar, Monica Pernia Marin, Jonathan W. Lischalk, Min Ji Koh, Siviero Agazzi, Simeng Suy, Brent T. Harris, Susmeeta T. Sharma, Edward Aulisi, Amjad Anaizi, Mohamed H. Khattab, Walter C. Jean, Walter C. Jean, Sean P. Collins, Brian T. Collins

“…ObjectiveNonfunctioning macroadenoma is a commonly diagnosed pituitary tumor. Resection is the favored treatment, with radiosurgery often utilized for residual or progressing disease. …”
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Anticholinergic burden and behavioral and psychological symptoms in older patients with cognitive impairment by Sabrina Pistorio, Gianluca Scotto di Tella, Vittoria Canzanella, Raffaella Merenda, Gianluigi Cuomo, Paola Iacotucci, Vincenzo Carnovale, Leonardo Bencivenga, Maria Vargas, Annalaura Manes, Mauro Cataldi, Giuseppe Rengo, Giuseppe Rengo, Michela Zanetti, Grazia Daniela Femminella, Grazia Daniela Femminella

“…No statistically significant differences were found between the two groups in terms of demographics (age, sex) and anamnestic variables (education, marital status, family history of dementia, hypertension, diabetes, smoking, dyslipidemia, atrial fibrillation, coronary heart disease and use of alcohol). …”
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Pragmatic algorithm for visual assessment of 4-Repeat tauopathies in [18F]PI-2620 PET Scans by Theresa Bauer, Matthias Brendel, Mirlind Zaganjori, Alexander M. Bernhardt, Alexander Jäck, Sophia Stöcklein, Maximilian Scheifele, Johannes Levin, Thilo van Eimeren, Alexander Drzezga, Osama Sabri, Henryk Barthel, Robert Perneczky, Günter Höglinger, Nicolai Franzmeier, Johannes Gnörich

“…This study aims to investigate the effectiveness of visual evaluation of [18F]PI-2620 images for diagnosing 4R-tauopathies and to develop a straight-forward reading algorithm to improve objectivity and data reproducibility. …”
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Rationale and design of a multicentre randomised controlled trial on circulating tumour DNA-guided neoadjuvant treatment strategy for locally advanced rectal cancer (CINTS-R) by Bin Wu, Yi Xiao, Xiao Zhang, Tao Xu, Qian Liu, Wei Fu, Yang An, Yongheng Li, Guole Lin, Huadan Xue, Guoju Wu, Jiaolin Zhou, Hongwei Yao, Zhenjun Wang, Weijie Chen, Junyang Lu, Guannan Zhang, Xiaoyuan Qiu

“…The trial will enrol 470 patients diagnosed with LARC (staged cT3-4N0 or cTanyN1-2) with tumours located ≤12 cm from the anal verge across seven centres in China. …”
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Chinese herbal formula Tongxie Yaofang granules for diarrhoea-predominant irritable bowel syndrome: a randomised, double-blind, placebo-controlled, phase II trial by Nicola Robinson, Mei Han, Ling Yan, Vincent Chi Ho Chung, Jian-Ping Liu, Hui-Juan Cao, Shi-Bing Liang, Hong-Jie Cheng, Qiao-Yan Zhang, Yu-Fei Li, Ze-Yu Yu, Ling-Yao Kong, Yan-Mei Cai, Li-Bao An, Bao-Tuan Zhao, Shan-Shan Xu, Nai-Wei Zhang, Bo-Yi Jia, Wei-Fang Liu, Fang Niu, Ba-Teer Wu, Jin-Ming Song, Shu-Xin Jia, Meng-Meng Shi, Xiao-Na Zhang

“…We hypothesised that TXYF would improve clinical responses among patients with IBS-D.Design A randomised, double-blind, placebo-controlled, phase II, superiority trial.Setting Outpatients attending the Fangshan Hospital, Beijing University of Chinese Medicine, Beijing, China.Participants 96 eligible participants included men and women ranging from late adolescence to middle adulthood (18–65 years), diagnosed with IBS-D according to the Rome IV criteria. …”
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Rewilding beech-dominated temperate forest ecosystems: effects on carbon stocks and biodiversity indicators by Markuljaková K, Mikoláš M, Svitok M, Meigs GW, Keeton WS, Kozák D, Pavlin J, Gloor R, Kalaš M, Ferenčík M, Ralhan D, Frankovič M, Hofmeister J, Dúhová D, Mejstrík M, Dušátko M, Veber A, Knír T, Svoboda M

“…We emphasise that forest heterogeneity, encompassing factors such as tree age and diameter, canopy layer, species composition, and growth patterns, are important for enabling managed forests to reach peak carbon storage capacity. …”
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Comparison of retinal vascular abnormalities in the fellow eyes of children with Coats’ disease and normal subjects using ultra-widefield fundus fluorescein angiography by Shenshen Yan, Haixia Ji, Yuzhu Liu, Haicheng She, Haiying Zhou

“…Purpose: To investigate retinal vascular abnormalities in the affected and fellow eyes of children with Coats’ disease using Optos® ultra-widefield fundus fluorescein angiography (UWFFA) and compare the peripheral vascular abnormalities between fellow eyes and normal control eyes. Methods: Children diagnosed with Coats’ disease who underwent UWFFA were retrospectively reviewed. …”
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Increased Early‐Mortality in Children With Solid Tumors During the COVID‐19 Pandemic in a Middle‐Income Country by Oscar Ramirez, Vivian Piedrahita, Santiago Bolivar, Karina Grillo, Adriana Linares, Carlos Pardo, Martha Piña, Amaranto Suarez, Carlos A. Portilla, Jesus Ardila, Viviana Lotero, Luz A. Urcuqui, Angela Trujillo, Patricia Montenegro, Luis E. Bravo, Paula Aristizabal, VIGICANCER Working Group

“…Children with newly diagnosed cancer registered in the Childhood Cancer Clinical Outcomes Surveillance System (VIGICANCER) were included. …”
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Construction and Pathogenicity Analysis of a GFPuv-labeled Peanut Ralstonia solanacearum Strain by Jinling HUANG, Yushuang WU, Huiquan TANG, Minyi HUANG, Ruixue YANG, Qiang WANG, Yong YANG, Xiaodan TAN

“…In liquid medium, the OD600 value of PeaFJ1-GFPuv strain exceeded 1.5 after 96 hours; in solid medium, the OD600 value exceeded 0.5 after 48 hours, with colony diameters of 1.0-1.5 mm within three days, showing no significant difference in growth rate compared with that of the wild-type strain. …”
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