Results 81 to 90 of about 5,347 (184)

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

Epilepsia, Volume 67, Issue 5, Page 2377-2388, May 2026.
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

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Kexin Fu, Yonglin Huang, Valerie Bowen, Katherine McCurdy, Reina B. Tan, Colin K. L. Phoon, Lindsay Marjoram, Alex Dahlen   +7 more
wiley   +1 more source

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Riboflavin (RF, vitamin B2) is an essential vitamin of which the co‐factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established.
Bregje Jaeger, Nina N. Stolwijk, Femke Aaldering, Charlotte A. Ruys, Marije Smits, Nicole I. Wolf, Carla E. M. Hollak, Annet M. Bosch   +7 more
wiley   +1 more source

Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI Study

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Primary mitochondrial diseases frequently affect the central nervous system, yet the extent, distribution and progression of white matter hyperintensities (WMHs) remain insufficiently characterised, particularly in terms of quantitative volumetrics and longitudinal progression.
Nora Mickelsson, Jussi Hirvonen, Mika H. Martikainen   +2 more
wiley   +1 more source

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source

Japanese Clinical Practice Guidelines for Vascular Tumors, Vascular Malformations, Lymphatic Malformations, and Lymphangiomatosis 2022

The Journal of Dermatology, Volume 53, Issue 5, Page e257-e356, May 2026.
ABSTRACT The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence‐based medicine techniques and aimed at improvement of the outcomes.
Yoshiaki Kinoshita, Kosuke Ishikawa, Sadanori Akita, Katsuyoshi Koh, Satoru Sasaki, Masatoshi Jinnin, Hidefumi Mimura, Keigo Osuga, Michio Ozeki, Michiko Nagahama, Akihiro Fujino, Yoko Aoki, Akiko Asai, Noriko Aramaki‐Hattori, Ryohei Ishiura, Masanori Inoue, Yuki Iwashina, Takafumi Ohshiro, Keiko Ogawa, Mine Ozaki, Junko Ochi, Shiro Onozawa, Motoi Kato, Takahide Kaneko, Tamihiro Kawakami, Akira Kitagawa, Masakazu Kurita, Yoshihiro Kuwano, Taro Kono, Shien Seike, Shinsuke Takagi, Nobuyuki Takakura, Takao Tachibana, Shuichi Tanoue, Kumiko Chuman, Hiroki Nakaoka, Yasuhiro Nakamura, Fumio Nagai, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Tadashi Nomura, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Takeshi Hirabayashi, Taizo Furukawa, Hiroshi Furukawa, Yumiko Hori, Takanobu Maekawa, Kentaro Matsuoka, Hideki Mori, Eiichi Morii, Akira Morimoto, Yuta Moriwaki, Shunsuke Yuzuriha, Naoaki Rikihisa, Munezumi Fujita, Yasuyuki Yamahana, Kyoichi Deie, Asami Tozawa, Daisuke Hasegawa, Akira Higashiyama, Daisuke Maeda, Sachiko Asayama, Yuhki Arai, Yohei Iwata, Mayu Uka, Hidehito Usui, Mizuki Uchiyama, Saori Endo, Hideki Endo, Rintaro Ono, Naoya Oshima, Toshihiro Otsuka, Kuniaki Ohara, Shinji Kagami, Tomo Kakihara, Mototoshi Kato, Hiroki Kanamori, Masafumi Kamata, Ami Kawaguchi, Akiko Kishi, Hiroshi Kitagawa, Kiyokazu Kim, Tamotsu Kobayashi, Takeshi Saito, Yusuke Shikano, Shuichi Shimada, Keisuke Suzuki, Masataka Takahashi, Shohei Takami, Reiko Takeda, Aya Tanaka, Kaishu Tanaka, Satoru Tamura, Masashi Tamura, Kanako Danno, Kenji Tsuboi, Yuta Nakajima, Ryo Nakatani, Miho Noguchi, Akifumi Nozawa, Naoki Hashizume, Masashi Hayakawa, Daichi Hayashi, Takaya Fukumoto, Mamoru Honda, Norifumi Matsuda, Hayato Maruguchi, Naoki Murakami, Kiichiro Yaguchi, Shiho Yasue, Hiroki Yoshihara, Rika Yoshimatsu, Kiyohito Yamamoto, Shinji Wada   +116 more
wiley   +1 more source

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.

, 2023
20.500.12530/87852MELAS syndrome is a genetic disorder caused by mitochondrial DNA mutations. We previously described that MELAS patients had increased CSF glutamate and decreased CSF glutamine levels and that oral glutamine supplementation restores ...
Guerrero-Molina, María Paz, Arenas, Joaquín, Ramos-González, Ana, Domínguez-González, Cristina, Bernabeu-Sanz, Ángela, Martín, Miguel A, González de la Aleja, Jesús, Morales-Conejo, Montserrat, Delmiro, Aitor   +8 more
core   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source

Exploring mTOR inhibition as treatment for mitochondrial disease

Annals of Clinical and Translational Neurology, 2019
Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo   +6 more
doaj   +1 more source

Emerging Design Principles at the Forefront of Mitochondrial Transplantation Using Engineering Methodologies: Current Achievements and Future Directions

Chemical Biology &Drug Design, Volume 107, Issue 4, April 2026.
Mitochondrial transplantation is emerging as a method to restore diverse mitochondrial functions, but it faces delivery challenges. Engineering advances address these gaps via tissue targeting, protection from external stresses, and enhanced cellular internalization.
Naoto Yoshinaga, Keiji Numata
wiley   +1 more source