Results 61 to 70 of about 6,108 (207)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Malignant hyperthermia: Report on a successful rescue of a case with the highest temperature of 44.2°C

Open Medicine, 2023
Malignant hyperthermia (MH) is an inherited skeletal muscle disorder caused primarily by a genetic mutation, usually in the calcium channel gene of the muscle. This mutation can lead to muscle hypersensitivity to volatile anesthetics (such as sevoflurane)
Lan Haiyan, Duan Gongchen, Zuo Yunxia, Lou Tianzheng, Xu Junlong, Shao Chuxiao, Wu Jimin   +6 more
doaj   +1 more source

EFFECTS OF DANTROLENE ON ACETYLCHOLINE-INDUCED CONTRACTIONS OF ISOLATED MOUSE ILEUM

Eurasian Journal of Medicine, 2019
Effect of skeletal muscular relaxant, dantrolene, on isolated longitudinal smooth muscle of mouse ileum of which contractions were induced by 10-6 M of acetylcholine (ACh) was investigated. Studies were performed in Tyrode solution. The first ACh-induced
Fatma Göçer, M. Emin Büyükokuroğlu, Nazım Doğan, Nur Babaoğlu, Akçahan Geptiremen   +4 more
doaj  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Dantrolene Inhibits Human Erythrocyte Glutathione Reductase

, 2008
Dantrolene, a drug used to treat malignant hyperthermia, inhibits abnormal Ca2+ release from the sarcoplasmic reticulum. Glutathione reductase (Glutathione: NADP+ oxidoreductase, EC 1.8.1.7), a member of the pyridine-nucleotide disulfide oxidoreductase ...
Ciftci, Mehmet, KÜFREVİOĞLU, Ömer İrfan, SENTURK, Murat, GÜLÇİN, İlhami   +3 more
core   +1 more source

Management of spasticity in children with cerebral palsy

Acta Orthopaedica et Traumatologica Turcica, 2020
Management of spasticity is a major challenge to the rehabilitation team. The initial management has centered on the elimination of externally exacerbating causes, physical therapy, splinting and casting.
Dennis J. Matthews, Birol Balaban
doaj   +1 more source

Reversible cerebral vasoconstriction syndrome: A narrative review

Headache: The Journal of Head and Face Pain, Volume 66, Issue 5, Page 1162-1180, May 2026.
Abstract Objectives/Background This review summarizes current insights into Reversible cerebral vasoconstriction syndrome (RCVS) diagnosis, management, and outcomes. RCVS is a cerebrovascular disorder characterized by recurrent thunderclap headaches and transient segmental vasoconstriction of cerebral arteries, typically resolving within 3 months ...
Ícaro Araújo de Sousa, Abner da Silva Machado, Arthur de Oliveira Veras, Thiago Oscar Goulart, Sarah Galassi Tatsuta, Trajano Aguiar Pires Gonçalves, Eva Rocha, Octávio Marques Pontes‐Neto   +7 more
wiley   +1 more source

Difficulties in management of malignant hyperthermia in a rural set up of a developing country

Medical Journal of Dr. D.Y. Patil University, 2014
Lack of availability of dantrolene sodium causes difficulty in management of malignant hyperthermia in different parts of India. We hereby report the case of a seven-year-old girl child who developed malignant hyperthermia and expired in spite of all ...
Debashis Saha, Arunima Chaudhuri, Sumanta Ghosh Maulik, Shankar Ray   +3 more
doaj   +1 more source

Dantrolene and lymphocytic lymphoma [PDF]

Postgraduate Medical Journal, 1980
Summary A patient is reported who was on prolonged treatment with dantrolene for spastic paraplegia; he developed a malignant lymphoma which led to his death.
H H, Wan, J S, Tucker
openaire   +2 more sources

Lactate potentiates NMDA receptor currents via an intracellular redox mechanism targeting GluN2B subunits: implications for synaptic plasticity

The Journal of Physiology, Volume 604, Issue 10, Page 3934-3963, 15 May 2026.
Abstract figure legend Astrocyte‐derived lactate enhances neuronal NMDA receptor (NMDAR) function and synaptic plasticity through a redox‐ and CaMKII‐dependent mechanism. Lactate enters neurons via monocarboxylate transporters (MCTs) and is oxidized by lactate dehydrogenase (LDH) to pyruvate, generating NADH and increasing the intracellular NADH/NAD ...
Hubert Fiumelli, Gabriel Herrera‐López, Fouad Lemtiri‐Chlieh, Lorène Mottier, John Girgis, Carine Ben‐Adiba, Pascal Jourdain, Nicolò Carrano, Hanan Mahmood, Amanda Ooi, Stefan T. Arold, Monica Di Luca, Fabrizio Gardoni, Pierre J. Magistretti   +13 more
wiley   +1 more source