Results 41 to 50 of about 12,239 (244)

What are Coincidences? A Philosophical Guide Between Science and Common Sense [PDF]

, 2023
It is a common opinion that chance events cannot be understood in causal terms. Conversely, according to a causal view of chance, intersections between independent causal chains originate accidental events, called “coincidences”.
Pietro Salis, Alessandra Melas
core  

Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis [PDF]

, 2016
Aim: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic ...
Zhou Jian, Li Quwen, Wang Zhiping, Zhou Hai, Gao Peiyi   +4 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

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 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   +1 more source

Ameiurus melas [PDF]

, 2017
Black Bullhead catfish (Ameiurus melas) in aquarium at Gavins Point National Fish Hatchery, South ...
Billings, Brett, USFWS
core   +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

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis: A case report

Radiology Case Reports, 2022
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with the features of herpes simplex encephalitis (HSE), which is rare and has been described in only a few case reports.
Wen-Gao Zeng, MD, Wan-Min Liao, PhD, Jue Hu, PhD, Su-Fen Chen, MD, Zhen Wang, PhD   +4 more
doaj   +1 more source

CPP–PEG‐Guided Surface Engineering of Mitochondria Enables Efficient Cellular Uptake and Respiratory Modulation

Advanced Materials Interfaces, EarlyView.
PEG‐guided mitochondrial surface engineering supports structural stabilization and controlled presentation of cell‐penetrating peptides. CPP–PEG‐modified mitochondria exhibit enhanced cellular uptake and uptake‐associated respiratory modulation, providing a proof‐of‐concept framework for modular organelle engineering and future bioenergetic modulation ...
Masahiro Shiraishi, Yukari Muramatsu, Akihiro Nakaya, Yuji Maruo, Rick C. Tsai, Masashi Suganuma, Hisashi Ohta, Atsuhito Takeda, Hideyoshi Harashima, Yuma Yamada   +9 more
wiley   +1 more source

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis [PDF]

International Journal of Ophthalmology
The phenotypes of the adenine-to-guanine transition at position 3243 of mitochondrial DNA (m.3243A>G) are highly variable, with different symptoms observed in different patients.
Xiao-Hong Liu, Xi Shen, Yi-Sheng Zhong
doaj   +1 more source