Materiały źródłowe

• #1 Malignant Hyperthermia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK430828/

  The exact incidence of malignant hyperthermia is unknown. Studies demonstrate that malignant hyperthermia occurs in about 1 in 100,000 adults and 1 in 30,000 in children. The incidence of malignant hyperthermia varies based upon geographic region. There are concentrations of malignant hyperthermia susceptible families present in Wisconsin and the upper Midwest. The mortality rate is 3% to 5%, even when properly treated. […] Other disorders are also associated with malignant hyperthermia susceptibility. These include central core disease (a rare, non-progressive myopathy characterized by hypotonia and weakness of proximal muscles) and King-Denborough syndrome (rare myotonia associated with multiple distinct physical features). […] The North American Malignant Hyperthermia Registry of the Malignant Hyperthermia Association of the United States (MHAUS) is a database of information about patients and their families that have experienced malignant hyperthermia episodes. Healthcare providers are encouraged to report malignant hyperthermia and malignant hyperthermia-like episodes to the registry.

• #2 Malignant hyperthermia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC1867813/

  Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stresses such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:5,000 to 1:50,000100,000 anesthesias. However, the prevalence of the genetic abnormalities may be as great as one in 3,000 individuals. […] The incidence of MH episodes during anesthesia is between 1:5,000 and 1:50,000100,000 anesthesias. Even though a MH crisis may develop at first exposure to anesthesia with those agents known to trigger an MH episode, on average, patients require three anesthesias before triggering. Reactions develop more frequently in males than females (2:1). All ethnic groups are affected, in all parts of the world. The highest incidence is in young people, with a mean age of all reactions of 18.3 years. 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. The oldest is 78 years. […] Genetically, MH is an autosomal dominant condition; the estimated prevalence of the genetic abnormalities may be as great as one in 3,000 individuals (range 1:3,000 to 1:8,500).

• #3 Malignant hyperthermia: Diagnosis and management of acute crisis – UpToDate

  https://www.uptodate.com/contents/malignant-hyperthermia-clinical-diagnosis-and-management-of-acute-crisis

  Malignant hyperthermia (MH) manifests clinically as a hypermetabolic crisis when an MH-susceptible (MHS) individual is exposed to a volatile anesthetic (eg, halothane, isoflurane, sevoflurane, desflurane) or succinylcholine. […] The incidence of MH events for a given population depends upon the prevalence of MH susceptibility and use of triggering anesthetics. […] MH episodes have been estimated to occur in the general population in 1:100,000 administered anesthetics. […] This is probably an underestimate because unrecognized, mild, or atypical reactions occur due to variable penetrance of this autosomal dominant inherited trait. […] An MH event does not necessarily occur every time an MH susceptible individual is exposed to an anesthetic triggering agent. […] Approximately one-half of patients who develop acute MH have had one or two uneventful exposures to triggering agents. […] In one case reported to the Malignant Hyperthermia Association of the United States (MHAUS) hotline and confirmed by molecular genetic analysis, the patient had undergone approximately 30 general anesthetics prior to triggering MH.

• #4 Malignant hyperthermia: a review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0310-1

  The incidence of MH episodes during anesthesia is between 1:10,000 and 1:250,000 anesthetics. […] The estimated prevalence of genetic abnormalities associated with MH susceptibility may be as great as one in 3000 individuals (range 1:3000 to 1:8500), with a more recent estimate being 1 in 400. […] A study of 12 million hospital discharges in the state of New York demonstrated the prevalence of MH to be one in 100,000 surgical procedures although the type of anesthetic was not indicated. This likely represents an underestimate of MH in association with general anesthesia. […] The highest incidence is in young people, with a mean age of all patients experiencing reactions of 18.3 years. It has been found that children under 15 years age comprised 52.1 % of all reactions. […] Reactions develop more frequently in males than females (2:1). […] All ethnic groups are affected, in all parts of the world.

• #5 Malignant Hyperthermia. Malignany Hyperpyrexia information

  https://patient.info/doctor/malignant-hyperthermia

  The incidence ranges from 1 in 10,000 to 1 in 250,000 anaesthetics. However, the prevalence of the genetic abnormalities may be as high as 1 in 400 individuals. It is inherited as an autosomal dominant gene of variable penetrance. As may be expected with any familial condition, there are geographical clusters. […] Usually there is nothing in the past medical history to suggest the diagnosis although it has been associated with myotonia congenita and both Duchenne muscular dystrophy and Becker’s muscular dystrophy.

• #6 What Is The Incidence Of MH? – MHAUS

  https://www.mhaus.org/faqs/what-is-the-incidence-of-mh/

  The exact incidence of MH is unknown. Epidemiologic studies reveal that MH complicates one in about 100,000 surgeries in adults and one in about 30,000 surgical procedures in children. […] The incidence varies depending on the concentration of MH families in a given geographic area. High incidence areas in the United States include Wisconsin, Nebraska, West Virginia and Michigan. […] However, the prevalence of genetic change that predisposes to MH is much higher. About one in 2,000 patients harbor a genetic change that makes them susceptible to MH.

• #7 Malignant Hyperthermia: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17945-malignant-hyperthermia

  Malignant hyperthermia is a genetic disease that causes a life-threatening reaction to certain anesthesia medications. The disorder usually runs in families and is treatable. […] People with family members that have had a malignant hyperthermia reaction are at risk. Someone with a first-degree relative (father, mother, son or daughter) that has had a malignant hyperthermia reaction is considered susceptible to the condition. […] Although the numbers vary, it is estimated that malignant hyperthermia occurs in about one in 100,000 surgeries for adults. The estimate in children is one in 30,000 surgeries. Half of the diagnosed cases are in people younger than 19. […] Scientists think that susceptibility to malignant hyperthermia is probably more common because many people with an increased risk of this condition are never exposed to drugs that would trigger the syndrome.

• #7 Malignant Hyperthermia: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/17945-malignant-hyperthermia

  If you or your healthcare provider think you may be susceptible to malignant hyperthermia due to family history, your provider may recommend special tests and procedures to diagnose it, including genetic testing. […] Malignant hyperthermia is difficult to prevent unless you know you have the genetic mutation that causes it or you have a family history of the condition and have told your anesthesiologist. […] Complete recovery from malignant hyperthermia is possible if your anesthesiologist and surgery team recognize the signs and symptoms of malignant hyperthermia early and properly treat it. But multiple organ failure and death can still occur even with prompt treatment. […] If untreated, malignant hyperthermia is almost always fatal. The death rate is 3% to 5%, even when the condition is properly treated.

• #8 Malignant Hyperthermia: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/2231150-overview

  The reported frequency of MH in the United States has ranged from 1 in 10,000 patients receiving anesthetics to 1 in 50,000; the reported frequency in children is higher. […] The true incidence of MH has not been established with precision, because of a lack of universal reporting in the United States. In addition, many MH-susceptible persons have not been exposed to the triggering agents. The annual number of suspected MH cases per year in the United States has been estimated to be about 700. […] Larach et al reported that in 291 MH episodes recorded in the North American Malignant Hyperthermia Registry database between 1987 and 2006, there were eight cardiac arrests and four deaths, and the median age of patients experiencing cardiac arrest or death was 20 years.

• #9 Malignant hyperthermia – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/malignant-hyperthermia/

  Malignant hyperthermia (MH) is a subclinical myopathy in which general anesthesia triggers an uncontrollable contraction of skeletal muscle that leads to a life-threatening hypercatabolic state and an increase in body temperature. […] Incidence: 700 per year in the US. […] Epidemiological data refers to the US, unless otherwise specified. […] MH is a lethal disease and has a high mortality rate if left untreated.

• #10 Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review

  https://www.mdpi.com/2077-0383/12/12/3869

  Malignant hyperthermia is a rare but life-threatening pharmacogenetic disorder triggered by exposure to specific anesthetic agents. […] The pediatric population is particularly vulnerable, and it has a five-fold higher incidence in children compared to adults. […] Based on epidemiological data, many national scientific societies have produced consistent guidelines, but many misconceptions are common among physicians and healthcare workers. […] The actual frequency of perioperative MH is challenging to estimate due to reluctance to publish adverse events, frequent misdiagnosis, and even poor adherence to pharmacovigilance registries. […] It is more common in males than females (2:1), with an estimated incidence of 1:10,000 in children and 1:50,000 in adults. […] A higher concentration of MH-susceptible families is reported in Wisconsin and the upper Midwest in the United States.

• #11 RYANODEX® | What is malignant hyperthermia (MH)?

  https://www.ryanodex.com/about-mh/

  Malignant hyperthermia (MH) is a pharmacogenetic disease that causes hypermetabolism, a fast rise in body temperature and severe muscle contractions when an affected person receives general anesthesia using volatile anesthetics or the paralytic succinylcholine. […] Incidences of MH during anesthesia procedures are estimated at 1 in 10,000 children compared with 1 in 50,000 for adults. […] The Malignant Hyperthermia Association of the United States (MHAUS) is a nonprofit organization dedicated to promoting optimum care and scientific understanding of MH and related disorders. MHAUS provides guidelines for the treatment of MH.

• #12 Malignant hyperthermia | MedLink Neurology

  https://www.medlink.com/articles/malignant-hyperthermia

  Using the USA Nationwide Inpatient Sample, approximately 1 in 100,000 patients were discharged with the diagnosis of malignant hyperthermia between 2000 and 2005 in the United States. A study of 47 patients with a discharge diagnosis of malignant hyperthermia showed that less than 25% had an episode of malignant hyperthermia during admission, around 25% had high fever without any evidence of malignant hyperthermia, and nearly 50% had a personal or family history of malignant hyperthermia. Mortality has fallen in the same period from 16% to 6%. The New York State database for the same period indicates a similar incidence in New York State hospitals. Data from New York State ambulatory surgery centers estimate the prevalence of malignant hyperthermia as 0.18 in 100,000 between 2002 and 2011. The Kids Inpatient Database (KID) pediatric inpatient database showed an incidence of malignant hyperthermia diagnosis in 3 per 100,000 discharges, with males having a 3-fold greater incidence. Similar incidence has been described in other countries. Malignant hyperthermia has been identified in both sexes, with a male-to-female predominance of clinical episodes of about 3 to 1. Male preponderance is seen with in vitro testing as well. In American women undergoing caesarean section, the prevalence of malignant hyperthermia discharge diagnosis is 1 out of 125,000; this is similar to patients undergoing nonobstetric surgery. Malignant hyperthermia occurs in all races and areas of the globe. The incidence of clinical episodes is greater in children than adults. The incidence varies from 1 in 10,000 to 1 in 250,000 and varies with the concentration of malignant hyperthermia families in a given geographic area. Because many subjects who are genetically predisposed to malignant hyperthermia gene do not express the syndrome on some or all exposures, the true prevalence is not known. An analysis of the French population predicted a prevalence, possibly as high as 1 in 4000, and more recent analyses of population genomics data estimate the prevalence as no less than 1 in 1500 to as high as 1 in 300. The incomplete penetrance and variable gene expression result in far fewer cases of malignant hyperthermia than anticipated by mutation prevalence. Shaw and colleagues suggest a threshold non-Mendelian model where weaker RYR1 variants inherited with non-RYR1 variants combine to confer malignant hyperthermia susceptibility. De novo mutations in RYR1 have been reported, explaining some of the inconsistencies in genetics.

• #13 Malignant Hyperthermia Panel, Sequencing | Test Fact Sheet

  https://arupconsult.com/ati/malignant-hyperthermia-panel-sequencing

  Approximately 1 in 2,000 individuals has a pathogenic variant in an MH susceptibility gene. As not all MH susceptible individuals are exposed to triggering agents, the estimated prevalence of anesthesia-related MH is 1-2 per 100,000. […] Episodes of MH require prompt diagnosis and treatment to reduce mortality. […] MH susceptibility may be assessed by functional laboratory testing (caffeine-halothane contracture test, otherwise known as in vitro contracture test) or molecular testing of MH-associated genes.

• #14 Malignant hyperthermia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-21

  Genetically, MH is an autosomal dominant condition; the estimated prevalence of the genetic abnormalities may be as great as one in 3,000 individuals (range 1:3,000 to 1:8,500). […] A recent report suggested that the MH susceptible (MHS) trait may be present in 1:2,0003,000 of the French population. […] MH crises develop not only in humans but in other species, particularly pigs, which have been a valuable source for research. Reactions have also been described in horses, dogs and other animals.

• #14 Malignant hyperthermia | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-21

  Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stresses such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:5,000 to 1:50,000100,000 anesthesias. However, the prevalence of the genetic abnormalities may be as great as one in 3,000 individuals. […] The incidence of MH episodes during anesthesia is between 1:5,000 and 1:50,000100,000 anesthesias. Even though a MH crisis may develop at first exposure to anesthesia with those agents known to trigger an MH episode, on average, patients require three anesthesias before triggering. Reactions develop more frequently in males than females (2:1). All ethnic groups are affected, in all parts of the world. The highest incidence is in young people, with a mean age of all reactions of 18.3 years. 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. The oldest is 78 years.

• #15 Orphanet: Malignant hyperthermia of anesthesia

  https://www.orpha.net/en/disease/detail/423

  The incidence of MH reactions ranges from 1/5000 to 1/50,000-100,000 anesthesias. However, the genetic prevalence of the genetic abnormalities may be as great as 1/400 individuals. A significant male preponderance has been reported. […] MH is inherited autosomal dominantly. Genetic counseling is possible in families with a known disease causing mutation.

• #16 Management of malignant hyperthermia: diagnosis and treatment | TCRM

  https://www.dovepress.com/management-of-malignant-hyperthermia-diagnosis-and-treatment-peer-reviewed-fulltext-article-TCRM

  Malignant hyperthermia (MH) occurs worldwide in all races. Children and young adults are mostly affected, with a significant male preponderance. 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. Since many MHS individuals experience no symptoms in daily life, the true incidence of MH remains unknown. The predicted genetic prevalence is reported to be one in 2,000, while the incidence of clinical MH episodes varies regionally from one in 5,000 to one in 100,000. In contrast with fulminant episodes, abortive courses might occur more frequently, but are difficult to diagnose due to their mild symptoms. […] Recent developments in anesthesiology seem to have led to a decrease in the risk of severe MH crisis over the last few years. Halothane, a potent MH-triggering agent, is no longer used in western countries. Compared with halothane, the onset of MH is delayed with the volatile anesthetics currently in use, and is more likely to be abortive MH with attenuated symptoms. Further, the recommended indications for succinylcholine, another possible triggering agent, have been gradually restricted by international anesthesia societies.

• #17 Malignant hyperthermia – Wikipedia

  https://en.wikipedia.org/wiki/Malignant_hyperthermia

  Epidemiology occurs in between 1:5,000 and 1:100,000 in procedures involving general anaesthesia. This disorder occurs worldwide and affects all racial groups. […] In the Manawatu region of New Zealand, up to 1 in 200 people are at high risk of the condition.

• #18

  https://www.nursingcenter.com/cearticle?an=01261775-202104000-00003&Journal_ID=646631&Issue_ID=5834787

  Malignant hyperthermia (MH) is caused by a genetic disorder of the skeletal muscle that induces a hypermetabolic response when patients are exposed to a triggering agent such as volatile inhaled anesthetics or depolarizing neuromuscular blockers. […] The incidence of MH during anesthesia is approximately one in every 3,000-50,000 procedures. […] Malignant hyperthermia is more common in males and the mean age of reported cases is 18.3 years; however, pediatric patients younger than 15 years make up 52.1% of reported cases. […] All ethnic groups may be affected, but there are reports of certain populations with higher rates of MH. These include French and Japanese populations, with a reported incidence of one in 2,000-3,000 people, and in the Manawatu region of New Zealand, one in 200 patients is either susceptible to MH or related to a susceptible individual. […] Because the genetic mutation for MH is an autosomal dominant disorder, a family history of MH is a well-known risk factor for susceptibility.

• #19 Malignant Hyperthermia: An Overview

  https://www.uspharmacist.com/article/malignant-hyperthermia-an-overview

  Studies show that MH complicates approximately one in 100,000 surgeries in adults and one in about 30,000 surgical procedures in children. […] The true incidence of MH susceptibility has not been precisely established in the United States because of the lack of universal reporting and the fact that many MH-susceptible persons have not been exposed to a triggering agent. […] MH occurs globally in all ethnic groups. Reactions are reported to occur more frequently in males than in females, and patients younger than 19 years account for approximately 50% of reported events.

• #20 Malignant hyperthermia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/malignant-hyperthermia/

  Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which people are given anesthetic gases. Susceptibility to malignant hyperthermia is probably more frequent, because many people with an increased risk of this condition are never exposed to drugs that would trigger a reaction and bring them to medical attention. […] People at increased risk of this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they have a severe reaction to anesthesia during a surgical procedure or they undergo testing (for instance, if susceptibility is suspected because a family member had a severe reaction). Malignant hyperthermia may not occur every time anesthesia is used. Many individuals who develop a severe reaction have previously been exposed to a triggering drug and not had a reaction.

• #21 Malignant Hyperthermia (MH) – EMCrit Project

  https://emcrit.org/ibcc/mh/

  Malignant hyperthermia (MH) can be caused by any inhalational anesthetic, other than nitrous oxide. MH usually occurs intraoperatively or in the very early postoperative period (up to an hour after finishing anesthesia). Patients with central core myopathy are predisposed to develop malignant hyperthermia. […] Immediate management of MH will often be necessary before a definitive diagnosis is made. Dantrolene is very safe, so when in doubt empiric therapy should be provided without delay.

• #22 The Epidemiology of Malignant Hyperthermia Events in North America | SpringerLink

  https://link.springer.com/chapter/10.1007/978-4-431-68346-9_5

  This chapter presents preliminary data drawn from the North American Malignant Hyperthermia Registry concerning the epidemiology of malignant hyperthermia (MH) events in North America. […] Malignant hyperthermia is a serious condition that can occur during or after the administration of certain anesthetic agents.

• #23 Malignant Hyperthermia : Virtual Library

  https://resources.wfsahq.org/atotw/malignant-hyperthermia-tutorial-of-the-week-number-131/

  Incidence is approximately 1:10 000 15 000. All races are affected. […] Mortality rates have fallen dramatically from 70-80% to 2-3% due to increased awareness, improved monitoring standards and the availability of dantrolene.

• #24 Malignant Hyperthermia Moves Out of the OR: The Role of the Anesthesia Professional – Anesthesia Patient Safety Foundation

  https://www.apsf.org/article/malignant-hyperthermia-moves-out-of-the-or-the-role-of-the-anesthesia-professional/

  Malignant hyperthermia (MH) strikes out of the blue and can rapidly lead to muscle rigidity, hyperthermia, elevated end tidal CO2, respiratory and metabolic acidosis, and if not treated promptly and specifically, it can result in death. […] Despite MH being inherited in an autosomal dominant manner, there is a higher incidence in males than females and that the syndrome occurs at a higher rate in children than adults. […] Since the first description of MH in Melbourne, Australia, in 1960 by Denborough and Lovell, much progress has been made in terms of defining the pathophysiology, discovering an effective therapeutic treatment, and disseminating information about MH to the anesthesia community. […] As a result, MH mortality has declined from 70% to as low as about 10% in countries prepared for the syndrome with ready access to dantrolene and other supplies, a coordinated approach to diagnosis and management including ICU observation, and post-episode coordination with family members of the person who experienced MH.

• #24 Malignant Hyperthermia Moves Out of the OR: The Role of the Anesthesia Professional – Anesthesia Patient Safety Foundation

  https://www.apsf.org/article/malignant-hyperthermia-moves-out-of-the-or-the-role-of-the-anesthesia-professional/

  A broader public health concern is how do resource-limited countries balance the cost of a life-saving drug dantrolene for an infrequent disorder, versus the need for expenditures on more frequently occurring disorders? […] While it has been questioned in the US as to whether ambulatory facilities who do not routinely use volatile agents and reserve succinylcholine for emergency airway management need to stock dantrolene, there is evidence to show that stocking dantrolene is both cost-effective and optimal for safe patient care where triggering agents may possibly be used.

• #25 The anesthesiologists’ perception of malignant hyperthermia | RMHP

  https://www.dovepress.com/the-anesthesiologists-perception-of-malignant-hyperthermia-and-availab-peer-reviewed-fulltext-article-RMHP

  Malignant hyperthermia (MH) is a hypermetabolic syndrome with high mortality rates. Early detection and prompt intravenous administration of dantrolene are crucial for effective management of MH. However, there is currently a lack of comprehensive nationwide surveys on the availability of dantrolene and anesthesiologists understanding of MH in China. […] The mortality rates associated with MH in China was reported as high as 73.5% in the early 21st century. […] Lack of awareness concerning the availability and accessibility of the orphan drug dantrolene was considered to attribute to the high mortality rates with MH. […] The findings of this study showed that hospitals equipped with domestic dantrolene are primarily concentrated in municipalities and provincial capital cities. […] The survey results indicated that 136 hospitals across 27 provinces in China had reported the cases of MH.

• #26 Successful management of malignant hyperthermia without dantrolene – A case report – IJCA

  https://www.ijca.in/html-article/21388

  Malignant hyperthermia (MH) is a rare inherited genetic disorder implicated in a life-threatening catastrophic event under general anaesthesia. In India, the total number of reported cases are of the magnitude of single digit due to lack of reporting. The mortality of MH is dramatically decreased from 70-80% to less than 5%, due to an introduction of dantrolene sodium for treatment of MH, early detection of MH episode using capnography, and the introduction of diagnostic testing for MH. […] In India, there is enormous dependence on clinical grading scale rather than halothane caffeine contraction test due to the lack of availability of accredited testing facilities. […] The present article describes a successful management of MH patient and emphasizes attentive surveillance, timely diagnosis, and intensive supportive measures for successful outcomes. There is also a need to address the lack of availability of dantrolene in most centres so as to have better outcomes whenever a suspected case of MH determined by clinical grading is presented.

• #26 Successful management of malignant hyperthermia without dantrolene – A case report – IJCA

  https://www.ijca.in/html-article/21388

  The prognosis of an MH crisis depends on early detection and how rapidly appropriate treatment is initiated. The principles of treatment are firstly to reverse the reaction and secondly to treat the consequences of the reaction. […] The successful management of MH without dantrolene emphasizes the need for stringent monitoring, early detection and immediate and effective treatment. Essential monitoring especially temperature and ETCO2 should be used so that early warning signs can be detected in all cases where volatile anesthetic agents and other triggering agents are used. […] The rapid progression of the condition and the potentially fatal outcomes necessitate the need for active case reporting, record keeping of susceptible patients and data sharing amongst institutes. The need for approved testing facilities for genetic and contraction testing is highlighted by these case studies. […] Although some of the cases have been successfully managed by supportive treatment, the use of the antidote dantrolene has resulted in the mortality rates being greatly reduced. There is need for better availability of dantrolene and resource sharing amongst tertiary care centers.

• #27

  https://link.springer.com/article/10.1007/s44254-023-00030-6

  Bibliometric analysis is a widely used method to identify and evaluate the trends and characteristics of the scientific publications in a specific research field. A large volume of literature has been published in the field of malignant hyperthermia (MH). However, no bibliometric studies have been conducted to describe the characteristics of highly cited articles on MH. Therefore, this study aims to identify the 100 most frequently cited articles about malignant hyperthermia, describe their characteristics, and investigate research trends. […] The reported incidence of MH ranging from 1:10,000 to 1:250,000, with the mortality rate up to 60%90% if left untreated. […] The mortality rate of MH and dantrolene availability are known to be uneven worldwide. This may partly be explained by the fact that scientific publications primarily report by authors from developed countries.

• #27

  https://link.springer.com/article/10.1007/s44254-023-00030-6

  To our knowledge, no bibliometric studies have been conducted on MH, and a search of PubMed using the medical subject headings (MeSH) Bibliometrics and Malignant hyperthermia retrieved no articles. […] The 100 most frequently cited articles covered a range of topics. Forty articles focused on genetic susceptibility screening, 27 articles on MH etiology study, and 11 on diagnosis and treatment. […] The most productive decade was the 1990s with the total number of citations peaking at more than 1000 in 1990 and 1991. […] The distribution of the authors of the 100 most cited articles is relatively concentrated in a few developed countries. The mortality rate of MH and dantrolene availability are known to be uneven worldwide. […] Therefore, based on this bibliometric analysis, the future research directions should be the development of rapid and non-invasive diagnostic tools, and raising the public concern with the availability of dantrolene.

• #28 Genetic epidemiology of malignant hyperthermia in the UK – SEARCH

  https://primo.qatar-weill.cornell.edu/discovery/fulldisplay/cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6208294/974WCMCIQ_INST:VU1

  Gaps in our understanding of genetic susceptibility to malignant hyperthermia (MH) limit the application and interpretation of genetic diagnosis of the condition. Our aim was to define the prevalence and role of variants in the three genes implicated in MH susceptibility in the largest comprehensively phenotyped MH cohort worldwide. […] We have confirmed MH susceptibility in 795 independent families, for 722 of which we have a DNA sample. Potentially pathogenic variants were found in 555 families, with 25 RYR1 and one CACNA1S variants previously unclassified recurrent variants significantly over-represented (P<1×10−7) in our cohort compared with the Exome Aggregation Consortium database. [...] We estimate non-RYR1/CACNA1S/STAC3 susceptibility occurs in 14–23% of MH families. Our data provide current estimates of the role of variants in RYR1, CACNA1S, and STAC3 in susceptibility to MH in a predominantly white European population.

• #29 Top Published Expert Doctors for Malignant Hyperthermia

  https://findexpertmd.com/d/Malignant_Hyperthermia

  404 top medical experts on Malignant Hyperthermia across 41 countries and 34 U.S. states, including 274 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants. […] Clinical Trials ClinicalTrials.gov: at least 10 including 1 Completed, 3 Recruiting.

• #30

  https://journals.lww.com/ccmjournal/fulltext/2024/12000/malignant_hyperthermia.14.aspx

  A narrative expert review aiming to summarize the clinical epidemiology and management of critically ill patients with malignant hyperthermia (MH). […] Medline searches were conducted to identify relevant articles describing the epidemiology, pathophysiology, and management of MH. […] Relevant studies regarding MH in both ICU and perioperative settings were reviewed. […] MH is a severe reaction triggered by inhalational volatile anesthetics and succinylcholine in genetically susceptible patients. […] A suspected MH reaction has important implications for future anesthetic exposure for both the patient and their family. […] Increasing use of inhalational anesthetics in the ICU underscores the need for enhanced education on the diagnosis and management of MH to ensure optimal patient sedation care and safety.

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