Results 31 to 40 of about 14,094 (239)

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports. [PDF]

Paediatr Anaesth
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).
Johnson BM, Johnson SC.
europepmc   +2 more sources

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

Pathology of mitochondria in MELAS syndrome: an ultrastructural study

, 2017
Ultrastructural changes in skeletal muscle biopsy in a 24-year-old female patient with clinically suspected mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) syndrome are presented.
Eliza Lewandowska, Elżbieta Pasennik, Tomasz Stępień, Monika Ołdak, Urszula Lechowicz, Agnieszka Pollak, Paulina Felczak, Iwona Stępniak, Teresa Wierzba-Bobrowicz   +8 more
core   +1 more source

Pterostichus melas Creutzer 1799

, 2015
Pterostichus melas (Creutzer, 1799) Pterostichus melas melas (Creutzer, 1799) [= depressus (Dejean, 1828)] References. Pterostichus melas depressus: Guéorguiev 1998: 41 (Galičica). Material studied. Skopje, Katlanovo, 13.06.1996, 1 s., leg. S.
Hristovski, Slavčo, Guéorguiev, Borislav   +1 more
core   +1 more source

Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders

eNeurologicalSci, 2017
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial disorders (MIDs). This report illustrates a case of MELAS syndrome with hypothyroidism and psychiatric disorders,
Yu-Xing Ge, Bo Shang, Wen-Zhen Chen, You Lu, Jue Wang   +4 more
doaj   +1 more source

Vitelliform maculopathy in MELAS syndrome

American Journal of Ophthalmology Case Reports, 2023
Purpose: We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
Cody Jahrig, Cristy A. Ku, Molly Marra, Mark E. Pennesi, Paul Yang   +4 more
doaj   +1 more source

Severe Diabetic Ketoacidosis as the Initial Presentation of m.3243A>G-Related Mitochondrial Diabetes in a 19-Year-Old Woman. [PDF]

J Diabetes
Journal of Diabetes, Volume 18, Issue 9, September 2026.
Ly R, Kobayashi T, Fukunaga K, Saheki T, Yoshimura T, Harada E, Takahashi K, Sato S, Jiang W, Zhang H, Imachi H, Murao K.   +11 more
europepmc   +2 more sources

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

CLINICAL ASSESSMENT FOR THERAPEUTIC EFFICACY OF A SMALL DOSE OF DICHLOROACETATE IN MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (MELAS) [PDF]

, 2005
筋生検・ミトコンドリアDNA遺伝子診断などによりMELASと診断され,脳卒中様発作を繰り返し,頭部MRIで病変が確認された成人MELAS5症例に,少量のジクロロ酢酸を含むLiverall^を投与し,脳卒中様発作を抑制できるか臨床経過を検討した.内服開始後は,全例で頭部MRI画像上病変を認める脳卒中様発作は生じなかった.従来小児科領域で報告されていた必要量よりも少量で発作を抑制できる可能性があると考えられた.しかし,血清中の乳酸・ピルビン酸は異常値を示す場合もあり ...
2180, 黒岩, 義之, KOYANO, Shigeru, 児矢野, 繁, ハキイ, ヤスヒト, 波木井, 靖人, 鈴木, ゆめ, 2186, 2185, 2184, 2183, 2182, クロイワ, ヨシユキ, 2181, スズキ, ユメ, HAKII, Yasuhito, 2179, SUZUKI, Yume, KUROIWA, Yoshiyuki, コヤノ, シゲル   +19 more
core  

Presencia de Pterostichus (Feronidius) melas italicus (Dejean, 1828) en la península ibérica (Coleoptera, Carabidae, Harpalinae).

, 2020
The presence of Pterostichus (Feronidius) melas italicus (Dejean, 1828) in the Iberian Peninsula is confirmed by means of the capture of new specimens in a wine-growing area of La Rioja (North Spain).
Toribio, Marcos, Marco Mancebón, Vicente Santiago [0000-0002-2484-4238], Marco Mancebón, Vicente Santiago, Pérez Moreno, Ignacio, Veas Bernal, Ariadna, Pérez Moreno, Ignacio [0000-0003-4253-1689]   +5 more
core   +1 more source