Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting by Helena Malmgren, Helena Malmgren, Malin Kvarnung, Malin Kvarnung, Peter Gustafsson, Peter Gustafsson, Britt-Marie Anderlid, Britt-Marie Anderlid, Cecilia Arthur, Cecilia Arthur, Jonas Carlsten, Jonas Carlsten, Karl De Geer, Karl De Geer, Emma Ehn, Emma Ehn, Giedre Grigelioniené, Giedre Grigelioniené, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Maritta Hellström-Pigg, Maritta Hellström-Pigg, Erik Iwarsson, Erik Iwarsson, Ekaterina Kuchinskaya, Ekaterina Kuchinskaya, Hillevi Lindelöf, Hillevi Lindelöf, Maria Mannila, Maria Mannila, Daniel Nilsson, Daniel Nilsson, Maria Pettersson, Maria Pettersson, Eva Rudd, Eva Rudd, Ellika Sahlin, Ellika Sahlin, Bianca Tesi, Bianca Tesi, Emma Tham, Emma Tham, Håkan Thonberg, Håkan Thonberg, Eini Westenius, Eini Westenius, Johanna Winberg, Johanna Winberg, Max Winerdal, Max Winerdal, Magnus Nordenskjöld, Magnus Nordenskjöld, Maria Johansson-Soller, Maria Johansson-Soller, Valtteri Wirta, Valtteri Wirta, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Kristina Lagerstedt-Robinson, Kristina Lagerstedt-Robinson

“…Our current protocol for trio analysis is based on genome sequencing data, which allows for simultaneous detection of single nucleotide variants, insertion/deletions, structural variants, expanded short tandem repeats, as well as a copy number analysis corresponding to an array-CGH, and analysis regarding SMN1 gene copies.…”
Get full text

Implementation, mechanisms of impact and key contextual factors involved in outcomes of the Modification of Diet, Exercise and Lifestyle (MODEL) randomised controlled trial in Aust... by Robin M Daly, Pawel Szulc, Marc Sim, Wai H Lim, John T Schousboe, Douglas P Kiel, Joshua R Lewis, Amanda Devine, Kun Zhu, Peter L Thompson, Simone Radavelli-Bagatini, Catherine P Bondonno, Lauren C Blekkenhorst, Reindolf Anokye, Emma Connolly, Nicola P Bondonno, Ben Jackson, James Dimmock, Markus P Schlaich, Kay L Cox, Mandy Stanley, Jenny Gianoudis, Belinda De Ross, Jonathan M Hodgson, Richard Woodman

“…Introduction The Modification of Diet, Exercise and Lifestyle (MODEL) study aims to examine the impact of providing visualisation and pictorial representation of advanced structural vascular disease (abdominal aortic calcification), on ‘healthful’ improvements to diet and lifestyle. …”
Get full text

Using interactive platforms to encode, manage and explore immune-related adverse outcome pathways by Alexander Mazein, Muhammad Shoaib, Miriam Alb, Christina Sakellariou, Charline Sommer, Katherina Sewald, Kristin Reiche, Patricia Gogesch, Luise A. Roser, Samira Ortega Iannazzo, Sapna Sheth, Susanne Schiffmann, Zoe Waibler, Vanessa Neuhaus, Susann Dehmel, Venkata Satagopam, Reinhard Schneider, Marek Ostaszewski, Wei Gu

“…The map is accessible online at https://imsavar.elixir-luxembourg.org via the MINERVA Platform for browsing, commenting, and data visualization. Our work transforms a graphical illustration of an AOP into a digitally structured and standardized form, featuring precise and controlled vocabulary and supporting reproducible computational analyses. …”
Get full text

Study on the Impact of Hormone Therapy for Prostate Cancer on the Quality of Life and the Psycho-Relational Sphere of Patients: ProQoL by Francesca Cappuccio, Carlo Buonerba, Luca Scafuri, Rossella Di Trolio, Pasquale Dolce, Serena Orsola Trabucco, Filomena Erbetta, Elvira Tulimieri, Antonella Sciscio, Concetta Ingenito, Antonio Verde, Giuseppe Di Lorenzo

“…Methods Eligible men initiating hormonal therapy were recruited between December 2021 and December 2023. Data were collected at baseline (T 0) and after 3 months (T 1) and 6 months (T 2) of ADT using standardized questionnaires (European Organization for Research and Treatment of Cancer [EORTC] QLQ-C30, EORTC QLQ-PR25) and semi-structured interviews. …”
Get full text

Impact of coronavirus disease 2019 on psoriatic arthritis: A multiregional observational study by Ranran Yao, Renge Liang, Jing Lu, Hongxia Li, Qiao Zhou, Yuhui Li, Liling Xu, Gong Cheng, Yuan Jia, Yin Su

“…Methods A total of 163 adult patients with PsA from 15 province‐level regions in China were enrolled in this multiregional observational study from January 14, 2023, to March 22, 2023. Data on patient demographics, COVID‐19 status, and disease characteristics were collected through a structured questionnaire survey. …”
Get full text

Type 2 gene expression signature in severe asthma associates with more advanced airway remodeling by Bogdan Jakiela, Karolina Górka, Iwona Gross‐Sondej, Sławomir Mikrut, Krzysztof Okoń, Piotr Sadowski, Anna Andrychiewicz, Hanna Plutecka, Tomasz Stachura, Grażyna Bochenek, Stanisława Bazan‐Socha, Krzysztof Sładek, Jerzy Soja

“…Severe asthma is linked to reduced ventilatory function due to airway structural changes. This study compared the extent of airway remodeling in different immunological endotypes of asthma. …”
Get full text

Exploring the relationship between intrinsic capacity and social participation in healthy ageing: Evidence from Singapore by Grace Cheong, William Tov, Robin Wai Munn Choo, Micah Tan, Lay Khoon Lau, Wee Shiong Lim, Yew Yoong Ding, Paulin Tay Straughan

“…We performed structural equation modelling to compare the direct and indirect effects (mediated by IADLs) of intrinsic capacity on social participation. …”
Get full text

Excessive body weight and its contributing factors in visually impaired patients in northwest Ethiopia, 2024 by Baye Ashenef, Bayu Wondimneh Yimenu, Enatnesh Essa Osman, Derese Sinamaw, Gelagey Baye, Zigale Hibstu Teffera, Mamaru Getinet Engida, Adane Adugna, Enyew Fenta Mengistu, Temesgen Baylie, Mohammed Jemal

“…An interviewer-administered structured questionnaire and physical assessments were used to gather data. …”
Get full text

Endothelial Damage in Sepsis: The Interplay of Coagulopathy, Capillary Leak, and Vasoplegia—A Physiopathological Study by Gianni Turcato, Arian Zaboli, Lucia Filippi, Alessandro Cipriano, Paolo Ferretto, Michael Maggi, Fabrizio Lucente, Massimo Marchetti, Lorenzo Ghiadoni, Christian J. Wiedermann

“…The Sepsis-Induced Coagulopathy (SIC) score, serum albumin (as a surrogate for capillary leak), and Total Peripheral Resistance Index (TPRI) (as a surrogate for vasoplegia) were assessed. Structural Equation Modeling (SEM) explored the relationship between variables, hypothesizing a common latent factor (endothelial damage). …”
Get full text

A cross-sectional study on depression and its associated factors among rural elderly in Chengalpattu District, Tamil Nadu by Ramesh Anshul, Ashokkumar Vikram, Sankar Karthik, Deepak Avinash KR, Mani Ezhilvanan, Chinnaian Sivagurunathan

“…A pre-tested, semi-structured interview schedule was used, including sociodemographic questions and the 30-item geriatric depression scale. …”
Get full text

THE ARTISTIC POTENTIAL OF CHORAL CONDUCTING IN CONTEMPORARY UKRAINE by Lyudmyla SHUMSKA, Yuliia PUCHKO-KOLESNYK, Lyudmyla KOSTENKO, Oleksandr VILA-BOTSMAN, Olha MARTYNOVSKA

“…As part of the methodological approach to the study, a comparative and structural analysis was applied, including the processing of statistical data on choral performances on the YouTube platform, as well as an analysis of the use of modern technologies in Ukrainian music institutions based on open sources. …”
Get full text

Acceptability of the Moyo device for intrapartum fetal heart rate monitoring at a referral hospital in Uganda: a qualitative study by Milton W. Musaba, Ritah Nantale, Julius N. Wandabwa, Agnes Napyo, Albert Ssesanga, Usaama Ssewankambo, Akello Eunice, Kenneth Mugabe, Brendah Nambozo, Faith Oguttu, John Stephen Obbo, Andrew D. Weeks, David Mukunya

“…Participants were purposively selected and interviewed using a semi-structured interview guide. The interviews were audio recorded and transcribed verbatim. …”
Get full text

Simulation of Image-Guided Microwave Ablation Therapy Using a Digital Twin Computational Model by Frankangel Servin, Jarrod A. Collins, Jon S. Heiselman, Katherine C. Frederick-Dyer, Virginia B. Planz, Sunil K. Geevarghese, Daniel B. Brown, William R. Jarnagin, Michael I. Miga

“…Healthcare digital twins (DTs) are anatomically one-to-one biophysical models constructed from structural, functional, and biomarker-based imaging data to simulate patient-specific therapies and guide clinical decision-making. …”
Get full text

Knowledge, attitude, and practice of HIV/AIDS transmission and prevention among barbing and beauty salon operators in Mogadishu, Somalia, 2024 by Saadaq Adan Hussein, Marian Muse Osman, Yahye Sheikh Abdulle, Abdirahman Aden Hussein, Abdullahi Ahmed Tahlil MD, Ahmed Mohamed Nur, Mohamed MAli Fuje, Mohamed Farah Yusuf, Rage Adem, Abdirahman Abdikadir Osman, Mohamed Abdurahman Hashi, Ayan Nor Ali, Abdullahi Ali Hayle, Mohamed Adan Mohamed, Omar Mohamed Mohamud, AbdulJalil Abdullahi Farah, Chukwuma David Umeokonkwo

“…Methods A cross-sectional study was conducted among 400 barbers and beauty salon operators in Districts Mogadishu selected using multistage sampling techniques from September 2023 to June 2024. A structured questionnaire was used to assess their knowledge, attitude and practice about HIV/AIDs transmission and prevention. …”
Get full text

The heart & mind trial: intervention with cognitive–behavioural therapy in patients with cardiac disease and anxiety: randomised controlled trial protocol by Jesper Hastrup Svendsen, Selina Kikkenborg Berg, Charlotte Brun Thorup, Trine Bernholdt Rasmussen, Lau Thygesen, Margrethe Herning, Signe Stelling Risom, Inge Schjødt, Carsten Juul, Martin Balslev Jorgensen, Signe Westh Christensen

“…All patients must give informed consent prior to participation and the trial is initiated after approval by the Danish Data Protection Agency (P-2020-894) and the National Committee on Health Research Ethics (H-20066739). …”
Get full text

Immunization status and its determinants among children aged 12–23 months at community health centers in Mogadishu, Somalia: a cross-sectional study by Shafie Abdulkadir Hassan, Abdifatah Abdullahi Abukar, Abdulahi Salad Gutale, Asma Isak Hassan, Abdulahi Jabril Haji, Abdulkadir Mohamed Nur, Mohamed Ibrahim Adam, Ahmed Nor Osman Hassan, Mowlid Abdikarin Mohamed, Abdifetah Ibrahim Omar, Nur Rashid Ahmed

“…This study assessed the determinants of vaccination status and its determinants for children aged 12–23 months in community health centers in Mogadishu, Somalia.MethodsThe study involved 417 mothers, systematically selected from those attending community health centers in Mogadishu for antenatal care between March 25 and June 15, 2024. Data was collected through a structured questionnaire, and SPSS was used for the analysis. …”
Get full text

Smart Fault Detection, Classification, and Localization in Distribution Networks: AI-Driven Approaches and Emerging Technologies by Jianxian Wang, Hazlie Mokhlis, Nurulafiqah Nadzirah Mansor, Hazlee Azil Illias, Agileswari K. Ramasamy, Xingyu Wu, Siqi Wang

“…The review further distinguishes between artificial intelligence-based smart approaches that directly process raw distribution networks signal data and those that rely on advanced feature extraction techniques to enhance functional performance. …”
Get full text

Deep learning-based computational approach for predicting ncRNAs-disease associations in metaplastic breast cancer diagnosis by Saleem Ahmad, Imran Zafar, Shaista Shafiq, Laila Sehar, Hafsa Khalil, Nida Matloob, Mehvish Hina, Sidra Tul Muntaha, Hamid Khan, Najeeb Ullah Khan, Samreen Rana, Ahsanullah Unar, Muhammad Azmat, Muhammad Shafiq, Yousef A. Bin Jardan, Musaab Dauelbait, Mohammed Bourhia

“…SHAP analysis identified key sequence motifs (e.g., "UUG") and structural free energy (ΔG = − 12.3 kcal/mol) as critical predictors, validated by PCA (82% variance) and t-SNE clustering. …”
Get full text

Assessment of Methicillin-Resistant Staphylococcus aureus (MRSA) knowledge and awareness among healthcare workers in South-Lebanon by Ali El Roz, Taghrid Chaaban, Hawraa Issa, José-Noel Ibrahim, Zeinab Ezzeddine, Ghassan Ghssein

“…Methods: A total of 244 HCWs, including those in medical services (MS), paramedical services (PS), and non-medical services (NMS), were conveniently selected for this study. Data was gathered using a structured, validated questionnaire that explored their knowledge and awareness of MRSA risks, prevention measures, hand hygiene practices, and multidrug resistance. …”
Get full text

Decentralized fintech platforms adoption intention in cyber risk environment among GenZ: A dual-method approach using PLS-SEM and necessary condition analysis by Md Sharif Hassan, Nguyen Hong Mai, Nor Shaipah Abdul Wahab, Mohammad Bin Amin, Md Maruf Hassan, Judit Oláh

“…A total of 391 valid responses were received. The data were analyzed through partial least squares structural equation modeling (PLS-SEM) and necessary condition analysis (NCA). …”
Get full text