Results 31 to 40 of about 46,096 (249)

Stroke-like episodes in mitochondrial encephalomyopathy with lactic acidosis

Анналы клинической и экспериментальной неврологии, 2017
We described two patients (female, 47 years and male, 42 years)with mitochondrial encephalomyopathy, lactic acidosis andstroke-like episodes (MELAS). Diagnosis was confirmed bygenetic study (A3243G mitochondrial DNA mutation wasfound), muscle biopsy and ...
L. A. Kalashnikova, L. A. Dobrynina, A. V. Sakharova, R. P. Chaykovskaya, M. F. Mir-Kasimov, R. N. Konovalov, A. A. Shabalina, M. M. Kostyreva, V. V. Gnezditsky, S. V. Protsky   +9 more
doaj   +1 more source

Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the ...
Xiao-ling YAN, Xue-bin ZHANG, Shu-mei JIN, Fan TANG, Zhu-yu HAN   +4 more
doaj   +1 more source

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

BMC Neurology, 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. Case presentation We present the
Tim Sinnecker, Michaela Andelova, Michael Mayr, Stephan Rüegg, Michael Sinnreich, Juergen Hench, Stephan Frank, André Schaller, Christoph Stippich, Jens Wuerfel, Leo H. Bonati   +10 more
doaj   +1 more source

Elderly onset of MELAS in a male: A case report

Frontiers in Neurology, 2022
BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most common maternally inherited mitochondrial diseases which rarely affects elderly people.Case presentationWe reported the case of a 61-year ...
Sheng-Peng Diao, Song-Fa Chen, Ai-Qun Liu, Zhi-Hua Zhou, Zhong-Xing Peng, Ming-Fan Hong   +5 more
doaj   +1 more source

Secretory Phospholipase A2 in Patients With Sickle Cell Disease Hospitalized for Vaso‐Occlusive Pain Episodes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Secretory phospholipase A2 (sPLA2) is an inflammatory mediator linked to acute chest syndrome (ACS) in sickle cell disease (SCD), a serious complication that can develop during an acute vaso‐occlusive pain episode (VOE). Plasma sPLA2 levels have been proposed as a potential biomarker for predicting ACS onset.
Rawan Korman, Maria Yasmine, Dunia Hatabah, Noor Alzraikat, Frank Harris, Lou Ann Brown, Satheesh Chonat, Nitya Bakshi, Chris A. Rees, Carlton Dampier, Claudia R. Morris   +10 more
wiley   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation

BMC Neurology, 2023
Background Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure.
Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri   +12 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source