Results 181 to 190 of about 300,344 (255)

First clinical and molecular characterization of two rare complex β-globin variants in Chinese population using third generation sequencing. [PDF]

Ann Hematol
Zhang L, Zhuang J, Huang N, Fu W, Chen C.   +4 more
europepmc   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen, Jianbing Xiong, Ziran Ou, Tianhao Zhao, Hui Li, Jun Huang, Zhi Tian, Wuyang Cao   +7 more
wiley   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

White Matter Hyperintensities Modify CYP2C19 Effect on Stroke Progression in Small Vessel Occlusion

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The association between CYP2C19 loss‐of‐function (LOF) alleles and early neurological deterioration (END) in acute small vessel occlusion (SVO) patients receiving dual antiplatelet therapy (DAPT) remains inconsistent. We hypothesized that white matter hyperintensities (WMH) burden act as a key moderator and investigated whether this
Xiaoxin Sun, Xinxiu Liu, Lei Wang, Rui Zhu, Miaomiao Wang, Zhiyong Zhang   +5 more
wiley   +1 more source

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Patients Improve, Patterns Persist: Longitudinal Stability of Rheumatoid Arthritis Joint Involvement Patterns

Arthritis Care &Research, EarlyView.
Objective Rheumatoid arthritis is a heterogeneous disease. Data‐driven approaches, from synovial histology to joint involvement patterns (JIPs), have sought to define clinically meaningful subgroups. Whether these subgroups represent stable phenotypes or transient disease states remains unclear.
Tjardo Maarseveen, Yasuo Nagafuchi, Kristina Lend, Seyam Alemyar, Herman Kasper Glas, Gerdur Gröndal, Bjorn Gudbjornsson, Espen A. Haavardsholm, Kim Hørslev Petersen, Jon Lampa, Merete Lund Hetland, Dan Nordström, Mike Nurmohamed, Mikkel Østergaard, Anna Rudin, Marte Schrumpf Heiberg, Tuulikki Sokka‐Isler, Till Uhlig, Josien van Dieren, Ronald van Vollenhoven, Tom Huizinga, Marcel J. T. Reinders, Sytske Anne Bergstra, Erik van den Akker, Rachel Knevel   +24 more
wiley   +1 more source

Development of Patient‐Reported Outcome Measures for Early Systemic Sclerosis Across Disease Subtypes

Arthritis Care &Research, Accepted Article.
Objective Existing patient‐reported outcome (PRO) measures for systemic sclerosis (SSc) have important limitations, including inadequate coverage of early disease and limited inclusion of diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) subtypes.
George J. Greene, Chelsea Rose Perschon, Emilie Jaeger, Alain Lescoat, David Cella, Dinesh Khanna   +5 more
wiley   +1 more source

The Association of Gout Flare Resolution With Physical Activity and Sleep: A Prospective Remote‐Monitoring Study

Arthritis Care &Research, EarlyView.
Objective This study aimed to determine whether gout flare resolution is associated with physical activity and sleep. These findings were intended to inform the future development of a definition for flare resolution. Methods Data from 81 participants with gout who experienced at least one flare during a six‐month prospective observational study were ...
Sarah Stewart, Boston Girven, Mia Clarke, Irene Zeng, Angelo Gaffo, Lisa K. Stamp, N. Lawrence Edwards, David Rice, Tania Ka'ai, Karl Rudolph, Julie Collis, Nicola Kayes, Nicola Dalbeth   +12 more
wiley   +1 more source

Artificial Intelligence‐Driven Extraction of Patient‐Reported Pain Outcomes in Osteoarthritis Using Large Language Models

Arthritis Care &Research, Accepted Article.
Objective Patient‐reported outcome measures (PROMs) are central to assessing symptom burden and treatment response in Osteoarthritis (OA) but are often embedded in unstructured clinical notes. We evaluated whether prompt‐engineered large language models (LLMs) could accurately extract or infer pain scores on a 0‐10 scale from routine OA clinical ...
Jainesh Doshi, Stephen Batter, Yiyuan Wu, William Salerno, Alice Santilli, Sandhya Kannayiram, Susan Goodman, Bella Mehta   +7 more
wiley   +1 more source