Results 51 to 60 of about 2,165 (170)

Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting

Orphanet Journal of Rare Diseases, 2023
Background and objectives Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on healthcare resource utilization associated with mitochondrial diseases and the clinical drivers of these ...
Sameen Haque, Karen Crawley, Rupendra Shrestha, Deborah Schofield, Carolyn M. Sue   +4 more
doaj   +1 more source

Clinical and imaging clues to the diagnosis and follow‐up of ptosis and ophthalmoparesis

Journal of Cachexia, Sarcopenia and Muscle, 2022
Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the ...
Kevin R. Keene, Hermien E. Kan, Stijn van derMeeren, Berit M. Verbist, Martijn R. Tannemaat, Jan‐Willem M. Beenakker, Jan J.G.M. Verschuuren   +6 more
doaj   +1 more source

Comparative Analysis of Phenotypic and Genotypic Differences Between Individuals Affected by Regressive and Non‐Regressive Autism: A Cross‐Sectional Study

Autism Research, Volume 18, Issue 6, Page 1290-1300, June 2025.
ABSTRACT Development among autistic youth varies widely. A subgroup of children experiences regression, defined as the loss of previously acquired developmental skills. Various genetic and environmental factors have been suggested as potential contributors.
Seyed Hassan Tonekaboni, Alana Iaboni, Brett Trost, Miriam Reuter, Zsuzsa Lindenmaier, Azadeh Kushki, Elizabeth Kelley, Jessica Jones, Muhammed Ayub, Stelios Georgiades, Robert Nicolson, Elim Chan, Andrada Cretu, Jessica Brian, Evdokia Anagnostou   +14 more
wiley   +1 more source

Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases.

PLoS ONE, 2019
The study aimed to evaluate the body composition of patients with mitochondrial diseases (MD) and correlate it with disease severity. Overall, 89 patients (age ≥ 18 years) with MD were recruited, including 49 with chronic progressive external ...
Yue Hou, Zhiying Xie, Xutong Zhao, Yun Yuan, Pan Dou, Zhaoxia Wang   +5 more
doaj   +1 more source

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

Molecular Genetics and Metabolism Reports, 2016
Chronic progressive external ophthalmoplegia is a mitochondrial disorder usually caused by single or multiple mitochondrial DNA (mtDNA) deletions and, more rarely, by maternally inherited mtDNA point mutations, most frequently in tRNA genes (MTT).
Massimiliano Filosto, Gaetana Lanzi, Claudia Nesti, Valentina Vielmi, Eleonora Marchina, Anna Galvagni, Silvia Giliani, Filippo M. Santorelli, Alessandro Padovani   +8 more
doaj   +1 more source

Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 586-601, March 2025.
Abstract Objective Pathogenic variations in the mitochondrial genome are tightly linked to neurological mitochondrial disorders in children. However, the mutation spectrum of mitochondrial DNA (mtDNA) in the Chinese population remains incomplete. Therefore, the primary objective of our study was to comprehensively characterize pathogenic mtDNA variants
Zhimei Liu, Kexin Pan, Mingzhao Wang, Yijun Jin, Wenxin Yang, Keer Chen, Chaolong Xu, Xin Duan, Ying Zou, Changhong Ren, Lifang Dai, Suzhou Zhao, Ya Wang, Lijun Shen, Fang Fang, Hezhi Fang   +15 more
wiley   +1 more source

Looping forward: exploring R‐loop processing and therapeutic potential

FEBS Letters, Volume 599, Issue 2, Page 244-266, January 2025.
R‐loops function as both regulators of gene expression, DNA repair, telomere maintenance or chromosome segregation, and as drivers of genome instability. This dual nature of these structures is coordinated by RNA/DNA/chromatin processing factors that safeguard the genome from detrimental R‐loop‐instigated DNA damage or cellular dysfunction ...
Kalliopi Stratigi, Athanasios Siametis, George A. Garinis   +2 more
wiley   +1 more source

A Review of Selected Alternative Remediation Methods for PFAS Contamination

Remediation Journal, Volume 35, Issue 2, Spring 2025.
ABSTRACT There are numerous per‐ and polyfluoroalkyl substances (PFAS)‐contaminated areas worldwide, with aqueous film‐forming foams (AFFFs) frequently representing a significant contaminant source. This research reviews nine remediation methods and their efficacy and suitability under different environmental conditions and various PFAS. The evaluation
A. Olivia Örnhem Gal, Mats E. Åström, Monika E. M. Filipsson   +2 more
wiley   +1 more source

Innovative Applications of Hill Lemon (Citrus pseudolimon Tanaka) in Sustainable Bioprocessing: Bioactive Extraction, Nanoparticle Synthesis, and Functional Food Products

Journal of Food Biochemistry, Volume 2025, Issue 1, 2025.
Hill lemon (Citrus pseudolimon Tanaka) is an underutilized citrus fruit native to India, with significant potential in the food, pharmaceutical, and cosmetic industries due to its rich nutritional and bioactive profile. This review consolidates existing research on Hill lemon, highlighting its various components and their associated health benefits ...
Ankita Thakur, Rajat Suhag, Yogesh Kumar, Anshu Sharma, Ajay Singh   +4 more
wiley   +1 more source

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease

Annals of Neurology, Volume 96, Issue 6, Page 1209-1224, December 2024.
Objective Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes.
Agustin Hidalgo‐Gutierrez, Jonathan Shintaku, Javier Ramon, Eliana Barriocanal‐Casado, Alba Pesini, Russell P. Saneto, Gloria Garrabou, Jose Cesar Milisenda, Ana Matas‐Garcia, Laura Gort, Olatz Ugarteburu, Yue Gu, Lahari Koganti, Tian Wang, Saba Tadesse, Megi Meneri, Monica Sciacco, Shuang Wang, Kurenai Tanji, Marshall S. Horwitz, Michael O. Dorschner, Mahesh Mansukhani, Giacomo Pietro Comi, Dario Ronchi, Ramon Marti, Antonia Ribes, Frederic Tort, Michio Hirano   +27 more
wiley   +1 more source