Results 101 to 110 of about 7,923 (198)

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, Volume 28, Issue 4, Page 953-980, August 2026.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Nucleotide Metabolism in Health and Disease

MedComm, Volume 7, Issue 8, August 2026.
Nucleotide metabolism, including de novo synthesis, salvage pathways, and catabolism, when dysregulated contributes to cancer, immune disorders, metabolic and urological diseases, and radiation injury. Metabolites such as adenosine, cGAMP, NAD, and cAMP and enzymes like RNR are promising therapeutic targets and biomarkers.
Xiaoying Zhao, Yiyu Zeng, Yike Xu, Shu Rao, Mouna Khouchani, Hassna Soummane, Jingyi Li, Rui Liu   +7 more
wiley   +1 more source

Comparison of the effect of intra-dermal injection of botulinum toxin and normal saline in the treatment of facial skin pores

Journal of Family Medicine and Primary Care
Background and Purpose: Skin pores (SPs) are normal and benign skin structures that are mostly located on the face (nose, cheeks, etc.) that cause many aesthetic concerns or complaints.
Nader Pazyar, Saeed Ashoori, Atefeh Mahdianrad, Maryam Seyedtabib   +3 more
doaj   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State‐Wide Diagnostic Service

Alcohol, Clinical and Experimental Research, Volume 50, Issue 8, August 2026.
Of 175 Australian children with fetal alcohol spectrum disorder (FASD), 90% had genetic testing, and of those, 24% had a rare copy number variant (CNV). Genetic testing supports the FASD diagnostic process and may reveal additional diagnoses or sources of genetic vulnerability to FASD.
Suzy Byrnes, Felicity Collins, Elizabeth Elliott   +2 more
wiley   +1 more source

Chewing-induced Facial Dystonia

Annals of the Academy of Medicine, Singapore, 2010
Sam SY Yang, Raymond CS Seet, Erle CH Lim   +2 more
openaire   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1063-1071, August 2026.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Smartphone video-based early diagnosis of blepharospasm using dual cross-attention modeling enhanced by facial pose estimation

npj Digital Medicine
Blepharospasm is a focal dystonia characterized by involuntary eyelid contractions that impair vision and social function. The subtle clinical signs of blepharospasm make early and accurate diagnosis difficult, delaying timely intervention. In this study,
Shenyu Huang, Boyuan Yang, Xiaoling Huang, Huina Zhang, Dong Luo, Guanchao Tong, Yijie Wang, Yongqing Shao, Menglu Chen, Qi Gao, Juan Ye   +10 more
doaj   +1 more source

Adverse outcomes between VMAT2 and anticholinergics in tardive dyskinesia: A target trial emulation

Psychiatry and Clinical Neurosciences, Volume 80, Issue 8, Page 637-644, August 2026.
Aim Vesicular monoamine transporter 2 (VMAT2) inhibitors have been approved for the treatment of tardive dyskinesia (TD), whereas anticholinergic agents are still widely used for this condition. This study aimed to compare the risk of major clinical adverse outcomes among patients with TD treated with VMAT2 inhibitors versus anticholinergic agents ...
Tien‐Wei Hsu, Chih‐Wei Hsu, Ping‐Tao Tseng, Yi‐Ya Fang, Chuo‐Yu Lee, Yu‐Hsuan Lin, Brendon Stubbs, Trevor Thompson, Andre F. Carvalho, Yu‐Chen Kao, Jen‐Ping Chen, Fu‐Chi Yang, Chia‐Kuang Tsai, Chih‐Sung Liang   +13 more
wiley   +1 more source