Results 61 to 70 of about 5,374 (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

Major cerebral vessels involvement in patients with MELAS syndrome: Worth a scan? A systematic review [PDF]

, 2021
Major cerebral vessels have been proposed as a target of defective mitochondrial metabolism in patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS).
Cortesi, Irene, Gramegna, Laura Ludovica, Lodi, Raffaele, Mitolo, Micaela, Evangelisti, Stefania, Cirillo, Luigi, Lia, Talozzi, Tonon, Caterina   +7 more
core   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Stroke in young adult with MELAS syndrome [Genç i·nme nedeni· olarak MELAS sendromu] [PDF]

, 2004
MELAS syndrome, a rare mitochondrial disorder, is characterized by mitochondrial encephalopathy, lactic acidosis, recurrent stroke-like episodes. Seizures, headaches, nausea and vomiting, exercise intolerance, and ragged-red fibers may be seen. A 20 year-
Özeren A., Özcan F., Zorludemir S., Sarica Y., Koç A.F.   +4 more
core  

Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions

Brain Pathology, EarlyView.
An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich, David S. Priemer, Charles Harker Rhodes, Daniel P. Perl, Kurenai Tanji, James E. Goldman   +5 more
wiley   +1 more source

Psychiatric disturbances in a patient with melas syndrome: A case report [PDF]

, 2016
Introduction Mitochondrial disorders of energetic metabolism (MD) represent a heterogeneous group of diseases manifesting at any age and its one of a number of mitochondria syndromes that share the common characteristics of encephalopathy and myopathy.
RIZZA, Maria Cristina, Gramaglia, Carla Maria, ZEPPEGNO, Patrizia, DI MARCO, Sarah, VECCHI, Camilla, CANTELLO, Roberto, DELICATO, Claudia, Prosperini, P.   +7 more
core   +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

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