Results 51 to 60 of about 46,096 (249)

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

A Dual‐Modal Wearable PPG Smartwatch with AI‐Enhanced Correction for High‐Accuracy and Continuous AF Burden Assessment

Advanced Science, EarlyView.
ABSTRACT Atrial fibrillation (AF) increases the risk of stroke and heart failure, yet accurate quantification of AF burden in daily life remains difficult. Although smartwatch photoplethysmography (PPG) supports continuous monitoring, complex rhythms and signal noise can impair burden estimation.
Song Zuo, Jinglei Wang, Xin Wang, Han Feng, Yize Zhao, Fadong Li, Shaobin Wei, Le Zhou, Zixu Zhao, Songjie Chen, Xiangyi Kong, Jue Wang, Liu He, Shijun Xia, Xin Li, Junmeng Zhang, Xiaoxia Liu, Xueyuan Guo, Ning Zhou, Songnan Li, Chenxi Jiang, Ribo Tang, Caihua Sang, Deyong Long, Xin Du, Jianzeng Dong, Wenwu Zhu, Changsheng Ma   +27 more
wiley   +1 more source

Clinical utility of pharyngeal high‐resolution manometry with impedance for upper esophageal sphincter dysfunction in gastroenterology

Advances in Digestive Medicine, EarlyView.
Abstract Pharyngeal high‐resolution manometry with impedance (P‐HRM‐I) is an established assessment method used to evaluate pharyngeal swallowing. It provides precise quantification of swallowing biomechanics that enable the detection of alterations in swallowing physiology.
Mistyka Schar, Taher Omari, Michal Szczesniak, Chien‐Lin Chen, Richard Heddle, Charles Cock   +5 more
wiley   +1 more source

Systemic Bevacizumab for Severe Bleeding From Acquired Gastrointestinal Vascular Malformations

American Journal of Hematology, EarlyView.
Targeted antiangiogenic therapy with systemic bevacizumab for bleeding from acquired GI VMs was found to be safe and effective for chronic and severe bleeding from acquired vascular malformations due to idiopathic angiodysplasia, chronic liver disease, and deficiencies of von Willebrand factor, in a patient population comprised mostly of heavily ...
Nardeen E. Ayad, Jacob R. Anderson, Bimalangshu Dey, Rebecca Karp Leaf, Andrew B. Song, Hanny Al‐Samkari   +5 more
wiley   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

A new Patient‐Reported Outcome Scale to assess autoimmune Encephalitis: PROSE

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AIE) has long‐lasting effects. Generic clinical assessment‐scales insufficiently capture disease‐specific sequelae. Patient‐reported outcome measures (PROMs) assess outcomes important to patients, ensuring relevance in the clinic and trials.
Juliette Brenner, Yvette S. Crijnen, Ilse Kulderij, Sammy H.C. Olijslagers, Cinthia J. Ruhe, Anke A.G. Tolido, Laura P. Kersten, Julia C.P. Verkoelen, Chelsey N. Kret, Brigit Thomassen, Finn I. van Wijnen, Juna M. de Vries, Tessa M. Bienfait, Tessa Brand, Jeroen Kerstens, Robin W. van Steenhoven, Anna E. M. Bastiaansen, Marienke A.A.M. de Bruijn, Agnes van Sonderen, Sharon Veenbergen, Ava Easton, Peter A. E. Sillevis Smitt, Esther van den Berg, Melissa Mandarakas, Maarten J. Titulaer   +24 more
wiley   +1 more source

Non‐melanoma skin cancer risk with Janus kinase inhibitors compared to interleukin‐6 receptor inhibitors in rheumatoid arthritis: results from a national cohort study

Arthritis &Rheumatology, Accepted Article.
Background Non‐melanoma skin cancer (NMSC) is one of the most common malignancies in rheumatoid arthritis (RA). This analysis assessed NMSC risk with Janus kinase inhibitors (JAKi) compared to interleukin‐6 receptor inhibitors (IL‐6Ri). Method This study used data from the British Society for Rheumatology Rheumatoid Arthritis Register (BSRBR‐RA) linked
Zixing Tian, Lianne Kearsley‐Fleet, Sizheng Steven Zhao, James Galloway, Mark Lunt, Kath Watson, Narges Azadbakht, BSRBR‐RA Contributors Group, Kimme L Hyrich   +8 more
wiley   +1 more source

Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation

Frontiers in Neurology, 2018
Background: Analysis of serum biomarkers and magnetic resonance spectroscopy (MRS) are useful for monitoring disease progression in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Ha Neul Lee, Choon-Sik Yoon, Young-Mock Lee   +2 more
doaj   +1 more source

Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes.

Internal Medicine, 1996
A 52-year-old woman with a history of a hearing disturbance since age 20 experienced visual hallucinations and convulsions, followed by right hemiparesis and aphasia. On the basis of a muscle biopsy and mitochondrial DNA analysis, she was diagnosed as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
MINAMOTO, Hideaki, KAWABATA, Keita, OKUDA, Bungo, SHIBUYA, Naomi, TACHIBANA, Hisao, SUGITA, Minoru, GOTO, Yuichi, NISHINO, Ichizo, NONAKA, Ikuya   +8 more
openaire   +3 more sources