Results 191 to 200 of about 28,520 (254)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

New Technique for Tramadol Dose Accuracy: Are Dosing Pumps the Solution? [PDF]

Pharmaceuticals (Basel)
Alas-Pineda C, Coto-Tejeda C, Pavón-Varela DJ, Gaitán-Zambrano K, Medina-Mejía J, Ferrer G.   +5 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Translation, cross-cultural adaptation, and validation into Brazilian Portuguese of the Functional Rhinoplasty Outcome Inventory-17 (FROI-17) for use in patients undergoing Functional Rhinoplasty. [PDF]

Braz J Otorhinolaryngol
Malosá Jorge ME, Soares Silva AC, Quedas A, Malheiros D, Mororo G, Baumann I, Lutaifi Dolci EL, Gutierrez Duran CC.   +7 more
europepmc   +1 more source

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Efficacy and safety of denosumab biosimilars in the treatment of postmenopausal osteoporosis: A systematic review of randomized clinical trials. [PDF]

Clin Exp Med
Shakibaei F, Malekshahi S, Heidari N, Heidari A.   +3 more
europepmc   +1 more source

Analytical similarity as the primary determinant of monoclonal antibody development: toward evidence-efficient regulatory frameworks. [PDF]

Front Drug Deliv
Niazi SK.
europepmc   +1 more source

Mentalization as a mediator of the effects of early life stress on borderline personality disorder in a South Korean clinical sample. [PDF]

Borderline Personal Disord Emot Dysregul
Chung YS, Shin H, Koo BH, Yun S, Oh UJ, Choi SW, Choo B, Seok JH.   +7 more
europepmc   +1 more source

Exploring EMDR: an innovative approach with Posner Paradigm to reprocessing negative memories in a non-clinical sample. [PDF]

Front Psychiatry
Piccardi L, Russo S, Lasaponara S, Boccia M, Riso C, Tizzani E, Burrai J, Giannini AM, Guariglia P.   +8 more
europepmc   +1 more source

In-person interview versus online self-assessment of the eating disorder examination: an empirical validation of data equivalence. [PDF]

Eat Weight Disord
Besse-Flütsch N, Mayr LM, Smigielski L, Bühlmann C, Pauli D.   +4 more
europepmc   +1 more source