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Total 115 results found since Jan 2013.

Infraclavicular Catheter in MELAS Syndrome for Analgesic Purposes
M Onay, T Tanyel Kiremitçi, G Erdoğan Kayhan, D İlhan Algın, MS GüleçNeurology India 2023 71(4):764-766 MELAS syndrome is defined as mitochondrial myopathy accompanied by encephalopathy, lactic acidosis, myoclonus, stroke-like episodes. It has a progressive course, multi-systemic effects and severe complications. Myoclonic contractions are unresponsive to many anti-epileptic drugs; these contractions and spasms may lead to severe pain. Systemic analgesic drugs are not sufficient to control pain. Therefore, continuous brachial plexus blockage may be pr...
Source: Neurology India - August 18, 2023 Category: Neurology Authors: M Onay T Tanyel Kiremit & #231;i G Erdo & #287;an Kayhan D & #304;lhan Alg & #305;n MS G & #252;le & #231; Source Type: research

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy. A 66-year-old man presented with a 60-year history of episodic weakness in the proximal muscles of the upper and lower limbs. The man has been diagnosed with muscle pathology and has undergone genetic examinations in many hospitals since childhood. We conducted a correct diagnosis in combination with the patient’s history, electrical physiology, and genetic analysis and identified a heterozygous KCNJ2 gene variant (c.220A > G; p.T74A). Patients with ATS can...
Source: Frontiers in Neurology - June 30, 2023 Category: Neurology Source Type: research

P91 Delivery challenges of Bethlem myopathy, a rare congenital muscular dystrophy
Source: International Journal of Obstetric Anesthesia - May 1, 2023 Category: Anesthesiology Authors: E. Mann, S. Paterson, R. Burns Source Type: research

A multi-disciplinary team reduced the risk of anesthesia in patients with decreased ejection fraction due to dilated cardiac myopathy: A case report
Asian J Surg. 2023 Apr;46(4):1660-1661. doi: 10.1016/j.asjsur.2022.09.151. Epub 2022 Oct 29.NO ABSTRACTPMID:37020368 | DOI:10.1016/j.asjsur.2022.09.151
Source: Asian Journal of Surgery - April 6, 2023 Category: Surgery Authors: Ting Yang Muhammad Saqib Mudabbar Bin Liu Qiang Fu Source Type: research

Successful Anesthetic Management of Mitochondrial Myopathy and Hypertrophic Obstructive Cardiomyopathy in a Child With Senger Syndrome
No abstract available
Source: American Journal of Therapeutics - November 1, 2022 Category: Drugs & Pharmacology Tags: Letters to the Editor Source Type: research

Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability
CONCLUSIONS: We found that oral dantrolene produced no serious adverse effects within the reported dose range, and was well tolerated by most MH-susceptible patients presenting myopathic symptoms. Our study provides dosing and adverse effect data as a basis for further randomized controlled clinical trials to determine the efficacy of oral dantrolene for symptomatic relief in MHS-related myopathies.PMID:36201369 | DOI:10.1213/ANE.0000000000006207
Source: Anesthesia and Analgesia - October 6, 2022 Category: Anesthesiology Authors: Carlos A Ibarra Moreno Natalia Kraeva Elena Zvaritch Heinz Jungbluth Nicol C Voermans Sheila Riazi Source Type: research

Genes, Vol. 13, Pages 1726: Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy
We report a Korean having MH with multi-minicore myopathy functionally supported by RYR1-mediated intracellular Ca2+ release testing in B lymphocytes. A 14-year-old boy was admitted for the evaluation of progressive torticollis accompanied by cervicothoracic scoliosis. During the preoperative drape of the patient for the release of the sternocleidomastoid muscle under general anesthesia, his wrist and ankle were observed to have severe flexion contracture. The body temperature was 37.1 °C. To treat MH, the patient was administered a bolus of dantrolene intravenously (1.5 mg/kg) and sodium bicarbonate. After a f...
Source: Genes - September 26, 2022 Category: Genetics & Stem Cells Authors: Young Jae Moon Joonhong Park Jung Ryul Kim Seung Yeob Lee Jaehyeon Lee Yong Gon Cho Dal Sik Kim Tags: Communication Source Type: research

STAC3 related congenital myopathy: A case series of seven Comorian patients
Eur J Med Genet. 2022 Aug 24:104598. doi: 10.1016/j.ejmg.2022.104598. Online ahead of print.ABSTRACTThe Bailey-Bloch congenital myopathy, also known as Native American myopathy (NAM), is an autosomal recessive congenital myopathy first reported in the Lumbee tribe people settled in North Carolina (USA), and characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) triggered by anesthesia. NAM is linked to STAC3 gene coding for a component of excitation-contraction coupling in skeletal muscles. A homozy...
Source: European Journal of Medical Genetics - August 27, 2022 Category: Genetics & Stem Cells Authors: Marie Gromand Paul Gueguen Anne Pervill é Fanny Ferroul Godelieve Morel Anrifati Harouna B érénice Doray J Andoni Urtizberea Jean-Luc Alessandri St éphanie Robin Source Type: research

What is Ondine ’ s Curse?
Discussion Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant with variable inheritance genetic disease caused by mutation in the Paired Like Homeobox B2 (PHOX2B) gene on chromosome 4. There are two other genes which may also cause CCHS. CCHS affects the chemoreceptor afferent ventilation pathways and is a neural crest migration problem of the autonomic nervous system. The incidence is unknown but a prevalence of 1 in 200,000 live births has been reported. Obviously it is a rarer phenomenon because of the general lethality of the syndrome. Patients usually present at birth or soon afterwards, but o...
Source: PediatricEducation.org - August 15, 2022 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news