Results 71 to 80 of about 9,186 (248)

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

Frontiers in Genetics, 2022
Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues.
Arianna Manini, Leonardo Caporali, Megi Meneri, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Valerio Carelli, Dario Ronchi, Dario Ronchi   +16 more
doaj   +1 more source

Anaesthesia Concepts in Patients with Chronic Progressive External Ophthalmoplegia Undergoing Ophthalmic Surgery—A Retrospective Cohort Analysis

Journal of Clinical Medicine
Background: Chronic progressive external ophthalmoplegia (CPEO) belongs to the group of mitochondrial encephalomyopathies. Anaesthesia for patients with CPEO may be associated with an increased risk due to known drug effects on mitochondrial metabolism ...
Nicolas Leister, S. Wendt, Andrea Hedergott, Ludwig M. Heindl, A. C. Rokohl, S. E. Stoll, Erik Gordon, Bernd W Böttiger, Julia Fricke, Volker C. Schick   +9 more
semanticscholar   +1 more source

Three and Four Courses of Radiation for Children With Recurrent Diffuse Intrinsic Pontine Glioma

Pediatric Blood &Cancer, Volume 72, Issue 11, November 2025.
ABSTRACT Purpose Re‐irradiation (RT2) for children with diffuse intrinsic pontine glioma (DIPG) is increasingly used upon recurrence; however, limited data are available for evaluating additional courses of radiotherapy (RT) for DIPG. The purpose of this case series was to report our institutional experience in treating patients with recurrent DIPG ...
Nisha Shariff, Anthony Lausch, Eric Bouffet, Derek S. Tsang   +3 more
wiley   +1 more source

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Definitions, 2020
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of ...

semanticscholar   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Suspensory materials for surgery of blepharoptosis: a systematic review of observational studies [PDF]

, 2016
Background Frontalis suspension surgery is considered the procedure of choice in cases of blepharoptosis. Among all the materials used in this type of surgery, ophthalmic and plastic surgeons prefer to use autologous Fascia Lata.
Amorelli, Giulia Maria, BOTTONE, Andrea, LA TORRE, Giuseppe, MIPATRINI, DANIELE, PACELLA, Elena, PACELLA, FERNANDA, SMALDONE, GIANPAOLO, TURCHETTI, PAOLO   +7 more
core   +3 more sources

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues

Frontiers in Genetics, 2020
It is generally accepted that patients with chronic progressive ophthalmoplegia caused by single large-scale deletion (SLD) of mitochondrial DNA (mtDNA) only harbor mutation in skeletal and eye muscles.
Tina D. Jeppesen, Morten Duno, John Vissing   +2 more
doaj   +1 more source

Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

Journal of Biological Research, 2022
The authors report about the association of progressive external ophthalmoplegia, atypical pigmentary retinopathy, ataxia phenotype with onset in first months of life (Kearns-Sayre syndrome) and with optic nerve atrophy and deafness. The localization of
Agostino Berio, Gian Luigi Mariottini, Marco Frascio, Attilia Piazzi   +3 more
doaj   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, Volume 3, Issue 5, September 2025.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source