Results 121 to 130 of about 317,190 (282)

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Challenges for interpreting results of antimicrobial susceptibility testing for treating infections of foals with Rhodococcus equi

Equine Veterinary Journal, EarlyView.
Abstract Rhodococcus equi is a facultative intracellular pathogen and a major cause of pneumonia in foals worldwide. The standard treatment for affected foals is a combination of a macrolide with rifampicin. The widespread use of this combination has led to the emergence of multidrug‐resistant (MDR) strains of R. equi.
Marlane Geribone Seeger, Letícia Trevisan Gressler, Laura Huber, Sonsiray Alvarez‐Narvaez, Juliana Felipetto Cargnelutti, Angela Ilha Bordin, Sara D. Lawhon, Noah D. Cohen   +7 more
wiley   +1 more source

Crosstalk Between Parkinson's Disease and Colorectal Cancer: Genetic Mechanisms, Gut Microbiota, and Therapeutic Insights

Health Care Science, EarlyView.
This review elucidates the crosstalk between Parkinson's disease and colorectal cancer, driven by shared genetics (PRKN, PINK1, DJ‐1) involving oxidative stress, cell cycle regulation, and inflammation. It identifies the gut microbiota—via functional amyloids and short‐chain fatty acids (SCFAs)—as a mechanistic bridge, offering insights for dual ...
Jiacheng Ying, Zhengyuan Fang, Cheng Zhang, Xu Liu, Jianzhi Cui, Zezhi Li, Jiayin Tang   +6 more
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

Frontiers in Genetics
Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray.
Chiara Minotti, Chiara Minotti, Ludovico Graziani, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli   +12 more
doaj   +1 more source

Gene Expression Biomarkers for Breast Ductal Carcinoma in Situ Recurrence Prediction

International Journal of Cancer, EarlyView.
ABSTRACT Breast ductal carcinoma in situ (DCIS) is often overtreated due to a lack of robust prognostic and predictive tools. This study aimed to evaluate gene expression in a well‐characterised DCIS cohort to determine their clinical utility as biomarkers for ipsilateral recurrence. RNA was extracted from microdissected tissues from primary DCIS.
Alexandria Un, Sakshi Mahale, David Byrne, Dorothea Lesche, Carlos Martinez‐Perez, Jia‐Min Pang, Maree Pechlivanis, Hugo Saunders, Madawa W. Jayawardana, Tongtong Luo, Sureshni I. Jayasinghe, Tanjina Kader, Lisa Devereux, Puay Hoon Tan, Andrew R. Green, Emad A. Rakha, Arran K. Turnbull, Stephen B. Fox, G. Bruce Mann, Kylie L. Gorringe   +19 more
wiley   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

Multi‐omics–driven precision medicine

iMeta, EarlyView.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li, Zhe Zhao, Yifan Zhang, Yao Ma, Gaofei Hu, Min Zeng, Zhanqun Yang, Zixuan Zhao, Xin Zhou, Wei Hu, Yuxuan Sun, Meng Su, Jun Li, Matthew Whiteman, Wei Fu, Chao Zhong, Lemin Zheng, Long Chen, Hairong Lv, Rongsheng Zhao, Yi Zhun Zhu   +20 more
wiley   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source