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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

Challenges in Obstetric Anesthesia in a Parturient With Native American Myopathy: A Case Report
In this report, we present the anesthetic management of a parturient with NAM and previous extensive posterior spinal fusion undergoing cesarean delivery under general anesthesia.
Source: A&A Case Reports - December 1, 2021 Category: Anesthesiology Tags: Case Report Source Type: research

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications
Publication date: Available online 25 January 2020Source: Genes & DiseasesAuthor(s): Haoyue Xu, Hang Liu, Tao Chen, Bo song, Jin Zhu, Xing Liu, Ming Li, Cong LuoAbstractAccording to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD). They are all congenital myopathies and are associated with clinical, pathological and genetic heterogeneity. A ten-year-old girl with scoliosis was unable to wean from mechanical ventilation after total intravenous anesthesia. The girl has scoliosis, respiratory insufficiency, moti...
Source: Genes and Diseases - January 25, 2020 Category: Genetics & Stem Cells Source Type: research

Successful Management of a Patient With X-Linked Myotubular Myopathy for Scoliosis Surgery and Previous Cardiac Arrest After Prone Positioning: A Case Report
A 15-year-old boy with X-linked myotubular myopathy associated with severe hypotonia and pectus excavatum presented for posterior spinal fusion of T2-sacrum because of rest pain and severe progressive neuromuscular scoliosis. Previously, he experienced 2 separate instances of cardiac arrest after prone positioning under general anesthesia. A preoperative computed topography angiogram in the supine and prone positions revealed inferior vena cava and right ventricular outflow tract obstruction on prone positioning. Successful positioning and posterior spinal fusion occurred by staging the procedure, correction of volume stat...
Source: A&A Case Reports - June 15, 2018 Category: Anesthesiology Tags: Case Reports Source Type: research