Results 131 to 140 of about 15,684 (257)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Large‐language‐models for pediatric diagnosis: Performance evaluation using real‐world clinical notes from common and rare cases

Pediatric Investigation, EarlyView.
• Advanced large language models exhibited superior diagnostic accuracy compared to clinicians, particularly for rare diseases, with Claude‐3.5 Sonnet and o1‐preview demonstrating the highest consistency between query iterations. ABSTRACT Importance Rigorous evaluation of large language models (LLMs) in pediatric diagnosis using authentic clinical ...
Cristian Launes, Paula Esteller‐Cucala, Marina Alvarez‐Estape, Ivan Cano, Rosa Pino, Carla González‐Grado, Andrea Aldemira‐Liz, Javier Logroño, Carlos Mascías, Juanjo do‐Olmo, Julián Isla, Yolima Cossio, Francesc Garcia‐Cuyas   +12 more
wiley   +1 more source

How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. [PDF]

, 2001
West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present ...
Baram, TZ, Brunson, KL, Eghbal-Ahmadi, M
core  

Insights from a six‐year hair drug analysis compendium in drug‐facilitated crimes involving vulnerable population cases

Journal of Forensic Sciences, EarlyView.
Abstract Hair analysis is a well‐established matrix in forensic toxicology, offering a valuable alternative or complement to traditional matrices in diverse contexts, including drug‐facilitated crimes (DFC), elder abuse, and accidental exposure in children.
Amandine Fort, Coralie Boudin, Hélène Eysseric‐Guerin, Virginie Scolan, François Paysant, Cloé Scherpereel, Mélissa Revet, Françoise Stanke‐Labesque, Théo Willeman   +8 more
wiley   +1 more source

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy. [PDF]

, 2019
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families.
Adams, David, Au, Margaret G, Bai, Renkui, Buckley, David J, Collier, Ashley, Cui, Hong, Diaz, Frank, Gahl, William, Graham, John M, Haude, Katrina, Kim, Jaemin, Lewis, Richard, Mathews, Katherine D, Millian Zamora, Francisca, Otero, Maria G, Panzer, Karin, Pierson, Tyler Mark, Tifft, Cynthia J, Tiongson, Emmanuelle, Toro, Camilo, Turner, Lesley   +20 more
core  

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

Cellular properties of convulsant-treated rat neo-cortical neurons during postnatal development [PDF]

, 1989
Hablitz, John H., Kellaway, Peter, Noebels, Jeffrey L., Sutor, Bernd   +3 more
core   +1 more source

Rapid Genome and Exome Sequencing in Inpatients: Clinical Impact at a Tertiary Academic Medical Center

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1337-1346, June 2026.
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler, Bryce A. Schuler, Elizabeth A. Jasper, Janet Talbert, Laura Duncan, Mackenzie Mosera   +5 more
wiley   +1 more source

Excitatory neurons and astrocytes‐specific dysregulation and aberrant interactions are vulnerable to FCDI as suggested by single‐cell spatial transcriptomics

Clinical and Translational Medicine, Volume 16, Issue 5, May 2026.
• Excitatory neurons and astrocytes show marked alterations in the single‐cell spatial transcriptomic atlas of epileptogenic cortex from patients with focal cortical dysplasia type I (FCDI). • The CBLN2high excitatory neuron subtype may be associated with neuronal hyperexcitability and cortical development in FCDI.
Yaqian Zhang, Qihang Zou, Yingying Liu, Yinchao Li, Yubao Fang, Tiancai Huang, Jiabin Yu, Lisen Sui, Dezhi Cao, Liemin Zhou   +9 more
wiley   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source