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Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.

https://arctichealth.org/en/permalink/ahliterature206192
Source
Clin Genet. 1997 Dec;52(6):416-21
Publication Type
Article
Date
Dec-1997
Author
T H Fagerlund
H. Ording
D. Bendixen
G. Islander
E. Ranklev Twetman
K. Berg
Author Affiliation
Institute of Medical Genetics, University of Oslo, Norway.
Source
Clin Genet. 1997 Dec;52(6):416-21
Date
Dec-1997
Language
English
Publication Type
Article
Keywords
Anesthesia
Caffeine - diagnostic use
Denmark
Female
Genetic Predisposition to Disease
Halothane - diagnostic use
Humans
Male
Malignant Hyperthermia - diagnosis - genetics
Muscle Contraction - drug effects
Mutation
Pedigree
Phenotype
Ryanodine Receptor Calcium Release Channel - genetics
Sensitivity and specificity
Sweden
Abstract
The ryanodine receptor 1 (RYR1) mutation C1840T has been reported to segregate with malignant hyperthermia (MH) susceptibility in several families. We have investigated several Scandinavian MH families with respect to five different RYR1 mutations reported to cause predisposition to MH, and we here report on two of the families in which the C1840T mutation was detected. In these two families there was recombination between MH susceptibility and this mutation in one and three individuals, respectively. These findings may suggest that it is necessary to reconsider the specificity of the IVCT and the role of C1840T as a cause of MH susceptibility in some families exhibiting this mutation.
PubMed ID
9520251 View in PubMed
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Evaluation of 119 anaesthetics received after investigation for susceptibility to malignant hyperthermia.

https://arctichealth.org/en/permalink/ahliterature36989
Source
Acta Anaesthesiol Scand. 1991 Nov;35(8):711-6
Publication Type
Article
Date
Nov-1991
Author
H. Ording
A M Hedengran
L T Skovgaard
Author Affiliation
Department of Anaesthesia, Helsingør Sygehus, Denmark.
Source
Acta Anaesthesiol Scand. 1991 Nov;35(8):711-6
Date
Nov-1991
Language
English
Publication Type
Article
Keywords
Adjuvants, Anesthesia - administration & dosage - adverse effects
Adolescent
Adult
Aged
Anesthesia, Conduction
Anesthesia, General
Anesthetics - administration & dosage - adverse effects
Biopsy - adverse effects
Child
Denmark
Disease Susceptibility
Humans
Malignant Hyperthermia - diagnosis - pathology - physiopathology
Middle Aged
Registries
Research Support, Non-U.S. Gov't
Retrospective Studies
Risk factors
Time Factors
Abstract
A questionnaire was sent to the first 371 patients investigated for MH susceptibility at the Danish MH Register, in order to assess sequelae from the muscle biopsy and possible subsequent anaesthetic complications. The purpose was to evaluate both the safety of anaesthetizing MH-susceptible (MHS) patients without the use of trigger agents, and the safety of giving trigger agents to non-susceptible (MHN) patients. Eighty-eight per cent of patients alive replied to the questionnaire. Of these, 22% complained about discomfort at the site of the biopsy, 2% had experienced problems when needing a subsequent anaesthetic, and 0.9% had had trouble when applying for life or accident insurance. The median observation period for all patients following the muscle biopsy was 5.5 years (range 27 months-11 years). During this period, 36 MHS patients had been anaesthetized 52 times (28 general and 23 regional anaesthetics, data missing in one case) without any MH-related complications. None of the patients had received prophylactic dantrolene. Three MHE patients had received non-trigger anaesthetic agents on three occasions without development of MH. Thirty-five MHN patients had been anaesthetized 64 times, and 13 of these MHN patients had received trigger agents 26 times without any signs of MH. An estimate of the probability of clinical MH developing in MHN patients subsequently anaesthetized with trigger agents was found to be 0-24.7% (95% confidence limits), whereas the probability of clinical MH developing in MHS patients anaesthetized with non-trigger agents was 0-9.7% (95% confidence limits).
PubMed ID
1763590 View in PubMed
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Incidence of malignant hyperthermia in Denmark.

https://arctichealth.org/en/permalink/ahliterature39527
Source
Anesth Analg. 1985 Jul;64(7):700-4
Publication Type
Article
Date
Jul-1985
Author
H. Ording
Source
Anesth Analg. 1985 Jul;64(7):700-4
Date
Jul-1985
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Anesthesia, Inhalation - adverse effects
Child
Child, Preschool
Denmark
Female
Humans
Infant
Male
Malignant Hyperthermia - epidemiology - etiology
Middle Aged
Research Support, Non-U.S. Gov't
Succinylcholine - adverse effects
Abstract
Questionnaires were sent to all anesthesia departments in Denmark to determine the total number of anesthetics given per year, and the distribution of different types of anesthesia. All cases of suspected malignant hyperthermia forwarded to the Danish Malignant Hyperthermia Register during a 6.5 yr period were reviewed and divided into subgroups according to clinical criteria. The incidence of suspected malignant hyperthermia in these subgroups was calculated in relation to type of anesthesia. The results are based on information about 386,250 anesthetics and 154 cases of suspected malignant hyperthermia. All cases of malignant hyperthermia occurred during general anesthesia, and more than 75% during anesthesia with a combination of potent inhalation agents and succinylcholine. The incidence of fulminant malignant hyperthermia was low: 1 in 250,000 total anesthetic procedures, but 1 in 62,000 anesthetic procedures with a combination of potent inhalation agents and succinylcholine. Masseter spasm occurred in 1 of 12,000 anesthetic procedures in which succinylcholine was administered. Suspicion of malignant hyperthermia was raised in 1 of 16,000 anesthetics total, but in 1 of 4,200 anesthetics with the above-mentioned combination of agents.
PubMed ID
4014731 View in PubMed
Less detail

Investigation of malignant hyperthermia in Denmark and Sweden.

https://arctichealth.org/en/permalink/ahliterature39738
Source
Br J Anaesth. 1984 Nov;56(11):1183-90
Publication Type
Article
Date
Nov-1984
Author
H. Ording
E. Ranklev
R. Fletcher
Source
Br J Anaesth. 1984 Nov;56(11):1183-90
Date
Nov-1984
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Biopsy
Caffeine - pharmacology
Child
Creatine Kinase - blood
Disease Susceptibility
Female
Genetic Screening
Halothane - pharmacology
Humans
In Vitro
Male
Malignant Hyperthermia - diagnosis - genetics - prevention & control
Middle Aged
Muscle Contraction - drug effects
Muscles - pathology
Research Support, Non-U.S. Gov't
Surgical Procedures, Operative
Abstract
Units for the investigation of susceptibility to malignant hyperthermia (MH) were set up in Denmark in 1977 and in Sweden in 1981. Two hundred and ten patients from 76 families have been investigated. The diagnosis of MH susceptibility (MHS) was made by in vitro exposure of muscle from vastus medialis to halothane and to caffeine. MHS criteria for the patients in this paper were established from examination of 31 control biopsies, obtained from the same muscle and with the same anaesthesia as the MH patients. The criteria have since been changed to those presented elsewhere in this issue. In our laboratories the halothane test (exposure to 0.5-2% halothane) was the more sensitive: 88% of MHS patients reacted to it. The caffeine test was positive in 68% of MHS patients, 0.5-2.0 mmol litre-1 solutions being the most discriminating. Forty-two percent of MHS patients reacted to only one test. Fulminant MH was the most common reason for investigation; all these families contained MHS members. Masseter spasm occurred as sole sign in 21 families, of which 11 were MHS. Only 10% of MHS patients had other signs or symptoms of neuromuscular disease such as muscle cramps or muscular dystrophy. Three families had experienced sudden infant death syndrome (SIDS), and two teenage brothers in a MHS family died suddenly, but death was unrelated to anaesthesia.
PubMed ID
6487440 View in PubMed
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Investigation of malignant hyperthermia susceptibility in Denmark.

https://arctichealth.org/en/permalink/ahliterature212244
Source
Dan Med Bull. 1996 Apr;43(2):111-25
Publication Type
Article
Date
Apr-1996
Author
H. Ording
Author Affiliation
Danish Malignant Hyperthermia Register, Herlev Hospital; Rigshospitalet, Copenhagen.
Source
Dan Med Bull. 1996 Apr;43(2):111-25
Date
Apr-1996
Language
English
Publication Type
Article
Keywords
Animals
Denmark - epidemiology
Disease Susceptibility
Humans
Malignant Hyperthermia - diagnosis - epidemiology
PubMed ID
8741205 View in PubMed
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RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility.

https://arctichealth.org/en/permalink/ahliterature212213
Source
Clin Genet. 1996 Apr;49(4):186-8
Publication Type
Article
Date
Apr-1996
Author
T. Fagerlund
H. Ording
D. Bendixen
G. Islander
E. Ranklev-Twetman
K. Berg
Author Affiliation
Institute of Medical Genetics, University of Oslo, Norway.
Source
Clin Genet. 1996 Apr;49(4):186-8
Date
Apr-1996
Language
English
Publication Type
Article
Keywords
Calcium Channels - genetics
Denmark
Disease Susceptibility
Female
Humans
Male
Malignant Hyperthermia - epidemiology - genetics
Muscle Proteins - genetics
Mutation
Pedigree
Ryanodine Receptor Calcium Release Channel
Sweden
Abstract
Malignant hyperthermia (MH) is a pharmacogenetic disorder. Susceptibility to MH (MHS) is presumed to be inherited in an autosomal dominant way. MH crises are triggered by halogenated inhalational anaesthetics and suxamethonium, and may be lethal if not treated early and adequately. Until now, eight mutations in the RYR1 gene have been described as causes of MHS phenotype in various MH families. The mutation RYR1 G1021A (Gly341Arg) has been reported to account for approximately 10% of Caucasian MHS cases. However, in our study this mutation was discovered in only 1 out of 89 Scandinavian families, indicating that this mutation may be the cause of MHS in only about 1% of MHS families in those populations. The mutation may have been brought to Scandinavia by an immigrant.
PubMed ID
8828983 View in PubMed
Less detail

Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.

https://arctichealth.org/en/permalink/ahliterature216778
Source
Clin Genet. 1994 Dec;46(6):401-4
Publication Type
Article
Date
Dec-1994
Author
T. Fagerlund
H. Ording
D. Bendixen
K. Berg
Author Affiliation
Institute of Medical Genetics, University of Oslo, Norway.
Source
Clin Genet. 1994 Dec;46(6):401-4
Date
Dec-1994
Language
English
Publication Type
Article
Keywords
Arginine - genetics
Base Sequence
Calcium Channels - genetics
Cysteine - genetics
DNA Mutational Analysis
DNA Primers
Denmark
Female
Humans
Male
Malignant Hyperthermia - genetics
Molecular Epidemiology
Molecular Sequence Data
Muscle Proteins - genetics
Pedigree
Point Mutation
Ryanodine Receptor Calcium Release Channel
Sarcoplasmic Reticulum - genetics
Abstract
We have examined 48 Danish families in which malignant hyperthermia reactions have occurred, with respect to three of six published mutations in the gene for the calcium release channel of sarcoplasmic reticulum (the RYR1 gene) believed to cause malignant hyperthermia susceptibility in man. The mutations are Arg614Cys, also known as the "pig mutation"; Arg163Cys; and Ile403Met. The only mutation found was Arg163Cys, which was detected in only one family. The results of this study indicate that other mutations must underlie the disorder in most Danish malignant hyperthermia-susceptible families, and that the "pig mutation" is not a frequent cause of malignant hyperthermia susceptibility in Denmark.
PubMed ID
7889656 View in PubMed
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Withholding or withdrawing therapy in Danish regional ICUs: frequency, patient characteristics and decision process.

https://arctichealth.org/en/permalink/ahliterature137386
Source
Acta Anaesthesiol Scand. 2011 Mar;55(3):344-51
Publication Type
Article
Date
Mar-2011
Author
H I Jensen
J. Ammentorp
H. Ørding
Author Affiliation
Department of Anaesthesiology, Vejle Hospital, Vejle, Denmark. hanne.irene.jensen@slb.regionsyddanmark.dk
Source
Acta Anaesthesiol Scand. 2011 Mar;55(3):344-51
Date
Mar-2011
Language
English
Publication Type
Article
Keywords
Aged
Decision Making
Denmark
Female
Humans
Intensive Care Units
Male
Middle Aged
Retrospective Studies
Time Factors
Withholding Treatment - statistics & numerical data
Abstract
New options for intensive therapy have increased the necessity of considering withholding or withdrawing therapy at intensive care units (ICUs), but the practice varies according to regional and cultural differences. The aim of this study was to investigate the frequency of withholding or withdrawing therapy in two secondary Danish ICUs, to describe the characteristics of patients in whom such decisions were made and to examine the existing documentation of the decision process.
A retrospective review of hospital records for all patients admitted to two regional Danish ICUs in 2008. The records were searched for all information regarding deliberations or decisions on withholding or withdrawing therapy.
Of 1665 patients admitted to the ICUs, 176 patients (10.6%) died; of these, 34 (19.3%) died while still receiving full active therapy, 25 (14.2%) died after therapy was withheld and 117 (66.5%) died after therapy was withdrawn. An additional 88 patients (5.3%) were discharged alive with therapy either withheld or withdrawn. The patients who died had higher severity scores, were older and were more likely to be men than those who were discharged with full therapy. The main reasons for withholding or withdrawing therapy were prognosis for acute illness and the deemed futility of therapy. The median time from admission to a decision on withholding or withdrawing therapy was 1.4 days.
Withholding or withdrawing therapy is common in Danish ICUs but more research is needed to explore the different aspects of withholding or withdrawing therapy in Danish ICUs.
Notes
Erratum In: Acta Anaesthesiol Scand. 2011 Oct;55(9):1153
PubMed ID
21288218 View in PubMed
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8 records – page 1 of 1.