Results 81 to 90 of about 2,461,819 (231)

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS): diagnostic criteria, features of epileptic seizures, and treatment approaches by the example of a clinical case

Неврология, нейропсихиатрия, психосоматика, 2017
The paper describes a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS). The features of  the course and therapy of epilepsy in MELAS are discussed.
M. A. Yamin, I. V. Chernikova, L. V. Araslanova, P. A. Shevkun   +3 more
doaj   +1 more source

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry [PDF]

, 2016
BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS
Agostoni, E, Arbustini, E, Arnaboldi, M, Baratta, S, Baron, P, Bassi, Mt, Beretta, S, Bersano, A, Boncoraglio, Gb, Bono, G, Bordo, Bm, Braga, M, Calloni, Mv, Candelise, L, Capitani, E, Carrera, P, Cavallini, A, Cereda, C, Checcarelli, N, Colombo, A, Comi, G, Comi, Gp, Corato, M, Corti, S, De Lodovici, Ml, Ferrarese, C, Ferrari, M, Fusi, L, Gellera, C, Grampa, G, Grasso, M, Grieco, G, Grond-Ginsbach, C, Guidotti, M, Incorvaia, B, Lanfranconi, S, Marcheselli, S, Markus, Hs, Mazucchelli, F, Merlini, G, Micieli, G, Molini, G, Mosca, L, Motto, C, Obici, L, Padovani, A, Parati, Ea, Penco, S, Perrone, P, Pezzini, A, Quaglini, S, Ronchi, D, Sasanelli, F, Sessa, M, Tadeo, Cs, Tancredi, L, Taroni, F, Trobia, N, Uccellini, D, Verrengia, Ep, Vitali, P, Zarcone, D   +61 more
core   +1 more source

Biomaterial design strategies for enhancing mitochondrial transplantation therapy

BMEMat, EarlyView.
Biomaterials to facilitate mitochondrial transplantation therapy: biomaterials as barriers to protect mitochondria from pathophysiological microenvironments, like osmotic stress caused by the excessive concentration of calcium ion, reactive oxygen species, and advanced glycation end products; biomaterials integrating with biochemical cues to improve ...
Shaoyang Kang, Yushan Zhang, Hang Li, Sirui Peng, Donghao Lyu, Chunxiao Zhou, Sheng Ding, Zujian Feng, Pingsheng Huang, Chuangnian Zhang, Hongjun Wang, Deling Kong, Weiwei Wang   +12 more
wiley   +1 more source

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

Behavioral Sciences &the Law, EarlyView.
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

Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNA(Asn) Gene [PDF]

, 1994
Chronic progressive external ophthalmoplegia (CPEO) is caused by a decreased oxidative phosphorylation (OXPHOS) activity due to large-scale deletions of the mitochondrial genome in 50 % of the patients.
Kadenbach, B., Klopstock, Thomas, Lauber, J., Marsac, C., Reichmann, Heinz, Seibel, P.   +5 more
core   +1 more source

Ictal–interictal continuum and status epilepticus: Two sides of the same coin? A prospective magnetic resonance imaging study

Epilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) is the most severe expression of seizures, encompassing both SE with prominent motor symptoms and nonconvulsive SE (NCSE). Ictal–interictal continuum (IIC), an electroencephalographic phenomenon, is characterized by periodic discharges (PD), spike‐and‐waves or sharp‐and‐waves (SW), or lateralized rhythmic ...
Pilar Bosque‐Varela, Lukas Machegger, Wanda Lauth, Panagiota Eleni Tsalouchidou, Susanne Knake, Georg Zimmermann, Nicolas Jannone‐Pedro, Giada Giovannini, Stefano Meletti, Adrian Ridski Harsono, Fabio Rossini, Markus Leitinger, Johannes Pfaff, Sándor Beniczky, Eugen Trinka, Giorgi Kuchukhidze   +15 more
wiley   +1 more source

First case of MELAS syndrome presenting with local brain edema requiring decompressive craniectomy.

Turkish Neurosurgery, 2021
AIM Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder.
Osman Yeşilbaş, Esma Şengenç, Melike Ersoy Olbak, Derya Bako, Oznur Gokce Nizam, M. Seyithanoğlu, D. Pehlivan, S. Ceylaner, D. İçağasioğlu, K. Aydin   +9 more
semanticscholar   +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

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

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