Results 71 to 80 of about 5,347 (184)

Acute cortical deafness in a child with MELAS syndrome [PDF]

, 2016
Auditory impairment in mitochondrial disorders are usually due to peripheral sensorineural dysfunction. Central deafness is only rarely reported. We report here an 11-year-old boy with MELAS syndrome who presented with subacute deafness after waking up ...
Roni B. Idan, Pittet, Marie-Pascale, Guinand, Nils, Idan, Roni B, Marie P. Pittet, Kern, Ilse, Toso, Seema, Fluss, Joel Victor, Ilse Kern, Seema Toso, Nils Guinand, Joël Fluss, Hélène Cao Van, Cao Van, Hélène   +13 more
core   +1 more source

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

Epilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer, Chiara A. Hummel, Tobias Baumgartner, Juliane L. Berns, Afaf Milad Said, Isabel Bünger, Susanne Schoch, Gábor Zsurka, Harald Prüss, Wolfram S. Kunz, Rainer Surges, Albert J. Becker, Julika Pitsch   +12 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1118-1128, June 2026.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases

Orphanet Journal of Rare Diseases
Background Endocrine dysfunctions are commonly associated with mitochondrial diseases. This study aimed to investigate clinical characteristics and outcomes of endocrine manifestations in patients with mitochondrial diseases.
Ja Hye Kim, Dohyung Kim, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi   +6 more
doaj   +1 more source

FASD and Intellectual Disability Equivalence: A Meta‐Analysis of Suggestibility During Forensic Interviews

Behavioral Sciences &the Law, Volume 44, Issue 3, Page 450-460, May/June 2026.
ABSTRACT Intellectual disability (ID) equivalence describes conditions in which individuals function cognitively and adaptively at levels comparable to ID without meeting IQ‐based diagnostic criteria. Fetal alcohol spectrum disorder (FASD) is characterised by impaired executive and adaptive functioning despite IQs often above the ID threshold ...
David J. Gilbert, Stephen Ikechukwu Azumara, Jacqueline M. Wheatcroft, Karen Steele, Penny Cook, Raja Mukherjee, Gisli Gudjonsson, Natalie Novick Brown   +7 more
wiley   +1 more source

Case Report: Late-Onset Mitochondrial Disease Uncovered by Metformin Use in a Patient With Acute Verbal Auditory Agnosia

Frontiers in Neurology, 2022
IntroductionVerbal auditory agnosia is rarely caused by mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Lactate acidosis, which is the adverse effect of metformin, has proposed links to mitochondrial dysfunction ...
Wei-Hao Lin, I-Hsiao Yang, Hui-En Cheng, Hsiu-Fen Lin, Hsiu-Fen Lin   +4 more
doaj   +1 more source

Recurrent Miscarriages and Postpartum Heart Failure Can Be Phenotypic Manifestations of the m.3243A>G Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Female carriers of the MT‐TL1 variant m.3243A>G may manifest not only phenotypically with diabetes, renal insufficiency, hearing loss, and cardiomyopathy but also with recurrent miscarriages.
Sounira Mehri, Josef Finsterer
wiley   +1 more source

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report [PDF]

, 2019
BACKGROUND Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40.
Schaller, André, Stippich, Christoph, Andelova, Michaela, Sinnreich, Michael, Hench, Juergen, Rüegg, Stephan, Bonati, Leo H, Sinnecker, Tim, Mayr, Michael, Frank, Stephan, Wuerfel, Jens   +10 more
core   +1 more source