Malignant hyperthermia in infancy and identification of novel RYR1 mutation

Chamley, D.; Pollock, Neil; Stowell, Kathryn M.; Brown, Rosemary L.

doi:10.1093/oxfordjournals.bja.a013478

Cited by 47 publications

(23 citation statements)

References 5 publications

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“…It has been found that children under 15 years age comprised 52.1% of all reactions. Although described in the newborn, the earliest reaction confirmed by testing is six months of age [2]. The oldest is 78 years.…”

Section: Epidemiologymentioning

confidence: 99%

Malignant hyperthermia

Rosenberg

Davis

James

et al. 2007

Orphanet J Rare Dis

392

340

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Section: Epidemiologymentioning

confidence: 99%

Malignant hyperthermia

Rosenberg

Davis

James

et al. 2007

Orphanet J Rare Dis

392

340

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“…The research approach included clinical diagnosis as well as molecular genetic analysis of DNA collected from individuals of families known to be susceptible to MH. The major thrust of the project was focused on Whanau Rua, and the research confirmed that affected members of the whanau carry a specific gene mutation that does not occur in the general population Chamley et al 2000;MidCentral 2007). Six members of Whanau Rua were interviewed for this study, and they all have personal experience of genetic testing and associated decision making.…”

Section: Whanau Ruamentioning

confidence: 94%

Ethics and Health Research: Decision Making in Aotearoa New Zealand

Tupara

2012

AJOB Primary Research

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Background: There has been no prior research in Aotearoa New Zealand describing how indigenous Maori engage with researchers in decision processes as participants of health research, even though Maori are often participants in health research. Methods: This article describes the findings of a retrospective qualitative case study of the decision experiences of members of three Maori kin groups (whanau) who have been participants in genetic research. Results: The study found four Maori constructs embedded in the participants' decision processes. Hui, 1 rangatiratanga, 2 manaakitanga, 3 and kotahitanga 4 are multifaceted concepts that featured prominently in decision making for all whanau interviewed. Conclusions: The results confirm philosophical, theoretical, and anecdotal discussions indicating that Maori utilize unique conventions in decision making, which is relevant to health researchers because of the important link between decision making and informed consent. 1. A hui (pronounced as "who + we") is a gathering or forum imbued with tikanga or cultural etiquette. 2. Rangatiratanga (pronounced "rar + nga + tea + rar + tar + nga") has a range of meanings, including autonomy, chiefliness and/or leadership, and positive role modeling. 3. Manaakitanga (pronounced "mar + nar + key + tar + nga") refers to notions such as guardianship, care, nurturing, and protection. 4. Kotahitanga (pronounced "core + tar + he + tar + nga") broadly refers to unity and collectivity but also to conventions that protect the integrity of the collective, such as the well-being of the membership. 5. The term "Western" refers to the philosophies, knowledge, and institutions of British origin that were embedded into New Zealand society as a result of the country coming under rule by the British monarchy.

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“…Children and young adults are mostly affected, with a significant male preponderance 7,13,14. According to a prevalence study in New York State between 2001 and 2005, the estimated prevalence of MH was 2.5–4.5 times higher in males than in females 15.…”

Section: Epidemiologymentioning

confidence: 99%

Management of malignant hyperthermia: diagnosis and treatment

Schneiderbanger¹,

Johannsen²,

Roewer³

et al. 2014

TCRM

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Malignant hyperthermia is a potentially lethal inherited disorder characterized by disturbance of calcium homeostasis in skeletal muscle. Volatile anesthetics and/or the depolarizing muscle relaxant succinylcholine may induce this hypermetabolic muscular syndrome due to uncontrolled sarcoplasmic calcium release via functionally altered calcium release receptors, resulting in hypoxemia, hypercapnia, tachycardia, muscular rigidity, acidosis, hyperkalemia, and hyperthermia in susceptible individuals. Since the clinical presentation of malignant hyperthermia is highly variable, survival of affected patients depends largely on early recognition of the symptoms characteristic of malignant hyperthermia, and immediate action on the part of the attending anesthesiologist. Clinical symptoms of malignant hyperthermia, diagnostic criteria, and current therapeutic guidelines, as well as adequate management of anesthesia in patients susceptible to malignant hyperthermia, are discussed in this review.

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Malignant hyperthermia in infancy and identification of novel RYR1 mutation

Cited by 47 publications

References 5 publications

Malignant hyperthermia

Malignant hyperthermia

Ethics and Health Research: Decision Making in Aotearoa New Zealand

Management of malignant hyperthermia: diagnosis and treatment

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