Results 181 to 190 of about 14,744 (303)

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

Evaluating the diagnostic role of magnetic resonance imaging in trigeminal neuralgia, hemifacial spasm, and glossopharyngeal neuralgia: A controlled blinded study. [PDF]

Brain Spine
Bonomo R, Bonomo G, Iess G, Schiariti MP, Falco J, Stanziano M, Restelli F, Mazzapicchi E, Broggi M, Labiad I, Acerbi F, Barbagallo GMV, Ferroli P.   +12 more
europepmc   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

New daily persistent headache with May-Thurner physiology and spinal epidural venous congestion: treatment with ascending lumbar vein embolization. [PDF]

BJR Case Rep
Ogunlade SB, Rozen TD, Lewis AR, Toskich BB, Devcic Z.   +4 more
europepmc   +1 more source

Mining Alzheimer's Interactomes, Macromolecular Complexes and Pathways for Drug Discovery

PROTEOMICS, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a progressive neurodegenerative disorder that leads to dementia. Many cases are diagnosed annually and there is no currently available cure. Understanding the underlying disease biology of AD through the study of molecular networks, particularly by mapping clinical variants to tissue‐specific interactomes and ...
Kalpana Panneerselvam, Krishna Kumar Tiwari, Luana Licata, Simona Panni, Sylvie Ricard‐Blum, Sucharitha Balu, Susie Huget, Juan Jose Medina Reyes, Eliot Ragueneau, Livia Perfetto, Birgit Meldal, Sandra Orchard, Henning Hermjakob   +12 more
wiley   +1 more source

A Rare Case of Vagoglossopharyngeal Neuralgia. [PDF]

JACC Case Rep
Thakkar R, Markewich J, Omar MS, Singh J, Dressler D, Zhan Y.   +5 more
europepmc   +1 more source

The Auriculotemporal Nerve: A Comprehensive Review of Its Anatomical Variation and Clinical Manifestations. [PDF]

Laryngoscope Investig Otolaryngol
Kadrie A, Toomey P, Callaway J, Gillespie MB, Boughter JD.   +4 more
europepmc   +1 more source

Ultrasonographic evaluation of ulnar innervated muscles in ulnar neuropathy at the elbow

PM&R, EarlyView.
Abstract Background Quantitative muscle ultrasound (qMUS) provides morphological measurements that can support clinical observation of muscle atrophy and weakness. As the use of qMUS continues to expand, and its potential for broader implementation in neuromuscular evaluation grows, there is a clear need for further validation, particularly in ...
Emmanuel Ogalo, Lee Bauer, Christopher Doherty, Sean G. Bristol, Kristine M. Chapman, BC Neuromuscular Disease Group, Emily Krauss, Michael J. Berger   +7 more
wiley   +1 more source

The Surgical Management of Intractable Vertigo and Tinnitus Caused by Neurovascular Compression of the Auditory Vestibular Nerve: A Report of Two Cases and Review of the Literature. [PDF]

Cureus
Shimomura N, Otani N, Yoshimura S, Matsuzaki H, Takagi R, Sumi K, Shijyo K, Yoshino A.   +7 more
europepmc   +1 more source

Mitochondrial dynamics in autoimmune diseases

Rheumatology &Autoimmunity, EarlyView.
Roles of mitochondrial dynamic imbalance in autoimmune diseases. The imbalance of mitochondrial fusion and fission is involved in the occurrence and development of autoimmune diseases, including systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, multiple sclerosis, myasthenia gravis, type 1 diabetes, psoriasis, and autoimmune ...
Ruicong Ma, Cheng Zhang, Jiaqing Liu, Jinyi Ren, Xia Li, Ying Zhao   +5 more
wiley   +1 more source