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DOI 10.1055/s-0040-1713850

Медицинская библиотека · Journal of pediatric genetics · 2020

Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.

Nerakh Gayatri, Ranganath Prajnya, Murugan Sakthivel

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Аннотация

Amiodarone-induced thyrotoxicosis is a life-threatening problem that is very effectively managed by total thyroidectomy, although often many of these patients are considered "too unfit" for anaesthesia. The aim of this study was to review the safety of anaesthesia for total thyroidectomy in the acute management of amiodarone-induced thyrotoxicosis. Information was obtained retrospectively from a prospective endocrine surgical database and from hospital records. Data, including outcomes and morbidity, are presented from 12 patients who underwent anaesthesia for total thyroidectomy as an urgent procedure for amiodarone-induced thyrotoxicosis. Despite the fact that these patients had uncontrolled thyrotoxicosis and marked cardiac failure at the time of anaesthesia, no anaesthetic or surgical mortality was seen. We conclude that a challenging patient with amiodarone-induced thyrotoxicosis that has not responded to conservative measures may be considered for total thyroidectomy early in their management. Total thyroidectomy can be performed under general or local anaesthesia with apparent relative safety.

Для цитирования: Nerakh Gayatri, Ranganath Prajnya, Murugan Sakthivel. Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.. Journal of pediatric genetics. 2020. DOI: 10.1055/s-0040-1713850.
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