The current status of malignant hyperthermia

Yang, Lukun; Tautz, Timothy J.; Zhang, Shulin; Fomina, Alla F.; Liu, Hong

doi:10.7555/jbr.33.20180089

Cited by 29 publications

(48 citation statements)

References 95 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Therefore, recently malignant hyperthermia became a rare condition, especially for family members of a proband, in whom a pathogenic mutation has already been identified. Notwithstanding, functional tests are still considered the gold standard for a definite diagnosis of malignant hyperthermia, either when a variant of uncertain significance is found, or when genetic testing results are negative (Yang et al, 2019).…”

Section: Malignant Hyperthermiamentioning

confidence: 99%

Role of Pharmacogenetics in Adverse Drug Reactions: An Update towards Personalized Medicine

et al. 2021

View full text Add to dashboard Cite

Adverse drug reactions (ADRs) are an important and frequent cause of morbidity and mortality. ADR can be related to a variety of drugs, including anticonvulsants, anaesthetics, antibiotics, antiretroviral, anticancer, and antiarrhythmics, and can involve every organ or apparatus. The causes of ADRs are still poorly understood due to their clinical heterogeneity and complexity. In this scenario, genetic predisposition toward ADRs is an emerging issue, not only in anticancer chemotherapy, but also in many other fields of medicine, including hemolytic anemia due to glucose-6-phosphate dehydrogenase (G6PD) deficiency, aplastic anemia, porphyria, malignant hyperthermia, epidermal tissue necrosis (Lyell’s Syndrome and Stevens-Johnson Syndrome), epilepsy, thyroid diseases, diabetes, Long QT and Brugada Syndromes. The role of genetic mutations in the ADRs pathogenesis has been shown either for dose-dependent or for dose-independent reactions. In this review, we present an update of the genetic background of ADRs, with phenotypic manifestations involving blood, muscles, heart, thyroid, liver, and skin disorders. This review aims to illustrate the growing usefulness of genetics both to prevent ADRs and to optimize the safe therapeutic use of many common drugs. In this prospective, ADRs could become an untoward “stress test,” leading to new diagnosis of genetic-determined diseases. Thus, the wider use of pharmacogenetic testing in the work-up of ADRs will lead to new clinical diagnosis of previously unsuspected diseases and to improved safety and efficacy of therapies. Improving the genotype-phenotype correlation through new lab techniques and implementation of artificial intelligence in the future may lead to personalized medicine, able to predict ADR and consequently to choose the appropriate compound and dosage for each patient.

show abstract

Section: Malignant Hyperthermiamentioning

confidence: 99%

Role of Pharmacogenetics in Adverse Drug Reactions: An Update towards Personalized Medicine

et al. 2021

View full text Add to dashboard Cite

show abstract

“…Dažniausiai PH priežastis yra RyR1 mutacija, sukelianti 50-86 proc. visų PH atvejų [1]. PH epizodus bendrosios anestezijos ar ankstyvojo pooperacinio laikotarpio metu gali sukelti gariniai anestetikai arba depoliarizuojantis miorelaksantas sukcinilcholinas.…”

Section: įVadasunclassified

“…Tikslios didesnio PH paplitimo priežastys šiose populiacijose kol kas nėra nustatytos [2]. PH epizodo metu sutrinka intraląstelinio Ca 2+ homeostazė, vystosi nekontroliuojama skersaruožių raumenų hipermetabolinė [1].…”

Section: įVadasunclassified

See 1 more Smart Citation

Piktybinė Hipertermija: Patofiziologija, Klinikinė Išraiška, Gydymas

Šėmys¹

2021

Health Sciences

View full text Add to dashboard Cite

Piktybinė hipertermija (PH) yra retas ir gyvybei pavojingas farmakogenetinis sutrikimas, sukeliamas garinių anestetikų ir depoliaziruojančio miorelaksanto sukcinilcholino. PH epizodai gali pasireikšti pacientams, paveldėjusiems I tipo rianodino receptorių (RyR1) mutaciją. Epizodo metu sutrinka intraląstelinė Ca2+ homeostazė, vyksta nevaldomi miofibrilių susitraukimai, kyla vidinė kūno temperatūra, vystosi hipermetabolinė būklė, sukelianti hiperkarbiją, hipoksemiją, acidozę, gyvybei pavojingas aritmijas, rabdomiolizę bei ūminį inkstų pažeidimą. Kliniškai PH, pasireiškia staigiu vidinės kūno temperatūros padidėjimu, tachikardija, EtCO2 padidėjimu, raumenų rigidiškumu. Įtarus PH, reikia nutraukti epizodą sukėlusio garinio anestetiko tiekimą, taikyti išorinį šaldymą ir skirti gydymą dantrolenu, koreguoti elektrolitų balansą bei arterinio kraujo dujų sudėtį. Tyrimo tikslas – įvertinti ir aptarti mokslinėje literatūroje pateikiamą informaciją apie PH, jos patofiziologinį mechanizmą, klinikinę išraišką ir gydymo būdus.

show abstract

“…First symptoms (rigidity of m. masseter and sustained hypercarbia are typical for children) could manifest already in several minutes or hours since the surgical intervention start or after its completion, these symptoms aggravate rapidly resulting in brain, renal, lung and heart insufficiencies with high mortality rate (hyperkalemic heart arrest) in the absence of timely medical aid: before dantrolene appearance in clinical practice -84%, with the use of dantrolene -9% [31,32].…”

Section: Clinical Presentationsmentioning

confidence: 99%

Fever as an Adverse Drug Reaction of Different Therapeutic Groups

Postnikov¹,

Teplova²,

Ermilin³

et al. 2020

AJP

View full text Add to dashboard Cite

Fever (t>38°C) developed in association with drug usage is rare but sometimes severe side effect (SE). It could manifest as single symptom or as a part of such life-threatening syndromes like malignant hyperthermia (MH), serotonin syndrome (SS), neuroleptic malignant syndrome (NMS). Fever could be caused by different therapeutic groups of drugs but the leading positions are occupied by antibiotics (mainly beta-lactams), substances acting on central nervous system (CNS) and chemotherapeutic agents. Main mechanisms are allergic and receptive. Curative measures include discontinuation of the suspected drug, introduction of agents blocking the action of the trigger factor -dantrolene (МН), bromocriptine (NMS), cyproheptadine (SS). Purpose of this review: to present the global and Russian data concerning fever as a drug-induced side effect. To distinguish the groups of patients and drugs of the highest risk. To evaluate aid measures. Results: fever as monosymptom of drug allergy is a difficult condition to be diagnosed and there are only few things that could help to recognize it such as temporal association with the suspected drug use and manifestation of fever along with the following resolution after suspected drug discontinuation and recurrence fever after suspected drug re-challenge. Among four syndromes described in this review such as serum sickness-like reaction (SSLR), NMS, SS and MH just fever at MH is not only a sign like in case of three others but it is significant and life-threatening manifestation and therefore requires additional curative methods (in addition to pharmacological support with dantrolene) -rapid cooling measures: ice-water nasogastric and rectal lavage, infusion of crystalloid solutions cooled up to 4°C, ice packs placing on main blood vessels and liver area, ventilatory measurements.

show abstract

The current status of malignant hyperthermia

Cited by 29 publications

References 95 publications

Role of Pharmacogenetics in Adverse Drug Reactions: An Update towards Personalized Medicine

Role of Pharmacogenetics in Adverse Drug Reactions: An Update towards Personalized Medicine

Piktybinė Hipertermija: Patofiziologija, Klinikinė Išraiška, Gydymas

Fever as an Adverse Drug Reaction of Different Therapeutic Groups

Contact Info

Product

Resources

About