Results 151 to 160 of about 79,932 (302)

Fertility counseling and preservation considerations in patients with gynecologic and non‐gynecologic BRCA and Lynch‐associated malignancies

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Lynch syndrome and BRCA‐mutation associated malignancies are fortunately rare. Affected patients have an increased risk of cancer diagnosis at a young age, often significantly overlapping with their reproductive years. In helping these patients, oncologists must navigate the following areas of care: cancer prevention, impact of cancer ...
Anna Weimer, Nadeem Abu‐Rustum, David Mutch, Mauricio Cuello, Angélica Fletcher, Hextan Y. S. Ngan, Nozomu Yanaihara, Rene Pareja, Christina Fotopoulou, Kenneth Ruzindana, Ka Yu Tse, Yana Zou, Neerja Bhatla, Ting‐Chang Chang, Munanchiso Ndukwe Iheme Jr, Jalid Sehouli, Nicole Conchin, Eva Chalas, Sarikapan Wilailak, Barbara Schmalfeldt, Alexander B. Olawaiye   +20 more
wiley   +1 more source

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia

Communications Medicine
Background To improve the precision of molecular diagnosis by means of a comprehensive bidirectional phenotypic and genotypic reanalysis in cases of unresolved monogenic diabetes previously investigated using a targeted next-generation sequencing (tNGS ...
Pedro Campos Franco, Augusto Cezar Santomauro Jr, Aline Dantas Costa-Riquetto, Lucas Santos de Santana, Larissa Garcia Gomes, Alexander Augusto de Lima Jorge, Milena Gurgel Teles   +6 more
doaj   +1 more source

Artificial intelligence‐driven bioinformatics: From analytical pipelines to model‐centered biological discovery

iMetaOmics, EarlyView.
AI‐driven bioinformatics is best viewed as an emerging model‐centered discovery framework in which learned representations increasingly support prediction, intervention design, and workflow orchestration, while classical pipelines remain essential for validation and reproducibility.
Songming Chen, Wei Zhang, Luohuan Dai, Zujian Xiong, Sicen Lai, Haitao Xu, Jia Gu, Kang Peng, Nian Jiang, Hongwei Liu, Xuejun Li   +10 more
wiley   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Exploratory Analysis of Ancestry‐Informed Polygenic Risk Scores in Korean Patients With Mature B‐Cell Neoplasms

Journal of Clinical Laboratory Analysis, EarlyView.
In 246 Korean patients with mature B‐cell neoplasms, ancestry‐informed PRS analysis using the 1000 Genomes East Asian population as an external reference showed only a modest overall case–reference difference. In contrast, phenotype‐matched PRS revealed the clearest and most consistent polygenic association in multiple myeloma, highlighting the ...
Youngeun Lee, Bo Ra Son, Yong‐Pyo Lee, Jihyun Kwon, Hee Sue Park   +4 more
wiley   +1 more source

Efficacy and safety of ustekinumab and vedolizumab in very early‐onset inflammatory bowel disease: A multicenter study from the pediatric inflammatory bowel disease Porto Group of ESPGHAN

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective We aimed to assess vedolizumab and ustekinumab efficacy and safety in patients with very‐early onset inflammatory bowel disease (VEO‐IBD). Methods A retrospective study involving 29 European and North American sites affiliated with the IBD Porto Group of European Society for Paediatric Gastroenterology Hepatology and Nutrition ...
Luca Scarallo, Paolo Lionetti, Jaroslaw Kierkus, Lauren Collen, Victoria Riedl, Christian Jakobsen, Gemma Pujol‐Muncunill, Kaija‐Leena Kolho, Marta Velasco Rodriguez‐Belvis, Katarina Mitrova, Darja Urlep, Benedicte Pigneur, Seamus Hussey, Firas Rinawi, Jan De Laffolie, Karl Mårild, Anat Yerushalmy‐Feler, Raffi Lev Tzion, Maya Granot, Marina Aloi, Elisabeth De Greef, Christos Tzvinikos, Christoph Norden, Caterina Strisciuglio, Kwang Yang Lee, Rémi Duclaux‐Loras, Saverio Pochesci, Naire Sansotta, Pejman Rohani, Dror S. Shouval, Yael Weintraub, CEDATA Group, Carsten Posovszky, Philip Bufler, Andreas Krahl, Stephan Buderus, Almuthe Hauer, Michael Friedt, Stefan Trenkel, Martin Laass, Söhnke Dammann, Klaus Michael Keller, Thomas Lang, Anke Dick, Steffen Reinsch, Viola Schulze   +45 more
wiley   +1 more source

The safe and effective use of tofacitinib and ustekinumab combination therapy in infantile onset inflammatory bowel disease

JPGN Reports, EarlyView.
Abstract Infantile‐onset inflammatory bowel disease (IOIBD) is a rare and severe subset of very‐early‐onset IBD, often associated with immune dysregulation and poor response to conventional therapies. Data regarding the use of Janus kinase inhibitors (JAKI) in this population is limited.
Smridhi Mahajan, Christian Wysocki, Bhaskar Gurram   +2 more
wiley   +1 more source

Shaping the research agenda of pediatric gastroenterology, hepatology, and nutrition: The proposal from an Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) expert group

JPGN Reports, EarlyView.
Abstract The Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) recognized the need to define research priorities and identify knowledge gaps to guide future investigations in pediatric digestive health. Following international examples, SIGENP aimed to provide a structured framework that aligns scientific innovation with ...
Carlo Agostoni, Daniele Alberti, Renata Auricchio, Maria Elisabetta Baldassarre, Osvaldo Borrelli, Matteo Bramuzzo, Teresa Capriati, Carlo Catassi, Sabrina Cenni, Marco Crocco, Salvatore Cucchiara, Luigi Dall'Oglio, Paola De Angelis, Marco Deganello Saccomani, Fabiola Di Dato, Angelo Di Giorgio, Antonella Diamanti, Valeria Dipasquale, Enrico Felici, Ruggiero Francavilla, Valentina Giorgio, Luigi Greco, Raffaele lorio, Flavio Labriola, Paolo Lionetti, Elena Lionetti, Giuseppe Maggiore, Monica Malamisura, Claudia Mandato, Antonio Marseglia, Emanuele Nicastro, Lorenzo Norsa, Salvatore Oliva, Licia Pensabene, Elena Sofia Pieri, Paolo Quitadamo, Giusy Ranucci, Sara Renzo, Claudio Romano, Silvia Salvatore, Luca Scarallo, Maria Immacolata Spagnuolo, Annamaria Staiano, Caterina Strisciuglio, Renato Tambucci, Riccardo Troncone, Pietro Vajro   +46 more
wiley   +1 more source

Human immunodeficiency virus infection mimicking very early onset inflammatory bowel disease

JPGN Reports, EarlyView.
Abstract Very early onset inflammatory bowel disease (VEO‐IBD), defined as diagnosis before 6 years of age, is often associated with immune dysregulation and monogenic etiologies; however, infectious mimics may be overlooked in low‐prevalence regions. We report a 4‐year‐old male with poor weight gain, intermittent diarrhea, elevated fecal calprotectin,
Rasha Abi Radi Abou Jaoudeh, Cary Sauer, Teresa Oh   +2 more
wiley   +1 more source

From Monogenic Variants to Polygenic Risk Scores in Inherited Cardiomyopathies: Clinical Utility, Ancestry Gaps, and Future Implementation in Arab Populations. [PDF]

Genes (Basel)
Abou Al-Saud S.
europepmc   +1 more source