Results 161 to 170 of about 73,881 (259)

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

Donor DNA: Embedding self-regulation into blood donation culture. [PDF]

Hematol Transfus Cell Ther
Sinha DR.
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

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

False-positive test results: prevalence, time trends, and factors associated with false-positive serological markers in blood donation screening. [PDF]

Hematol Transfus Cell Ther
Kallas-Silva L, Dinalli Dos Santos L, Dutra VF, Kutner JM, Bonet-Bub C.   +4 more
europepmc   +1 more source

Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Identifying Strategies to Address Systemic Barriers to Blood Donation for South Asian Communities in Ontario: A Community-Based Approach. [PDF]

Healthcare (Basel)
Holloway K, Joshi P, Nadkarni SC, Khandelwal A, Singh J, Dhaliwal M, Raffinan L.   +6 more
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

Blood donation practices and behavioral intentions: A scoping review using the theory of planned behavior. [PDF]

PLoS One
Lakew G, Gebretsadkan BT, Alemu GG, Bazezew AM, Yirsaw AN, Wondie WT, Mengistie BA, Dagnaw TE, Aweke MN, Baykemagn ND.   +9 more
europepmc   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source