Suspended in time.
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Burnout, Professional↗
Biomedical subjects
M Lehane
Publications and source records attributed to M Lehane.
Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
Defects in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia (MH), an autosomal dominant disorder of skeletal muscle and one of the main causes of death resulting from anaesthesia. Susceptibility to MH (MHS) is determined by the level of tension generated in an in vitro muscle contracture test (IVCT) in response to caffeine and halothane. To date, mutation screening of the RYR1 gene in MH families has led to the identification of eight mutations. We describe here the identification of a novel mutation, Arg552Trp, in the RYR1 gene, which is clearly linked to the MHS phenotype in a large, well characterised Irish pedigree. Considering that the RYR1 protein functions as a tetramer, correlation of the IVCT with the affected and unaffected haplotypes was performed on the pedigree to investigate if the normal RYR1 allele in affected subjects contributes to the variation in the IVCT. The results show that the normal RYR1 allele is unlikely to play a role in IVCT variation.
Alleles↗
The use of behavioural mapping in a study of seclusion.
As part of a larger study into the use of seclusion we set out to examine some of the antecedents that led to patients being secluded in one locked psychiatric ward. Behavioural mapping was used to chart the location of incidents that resulted in seclusion. Incidents were observed in several ward areas but most of these occurred in the day room and the dining room. This finding enabled us to question the ward policy of confining patients to these areas to facilitate nursing observation and management. The policy may have contributed to the number of disturbances by limiting personal space for patients. Literature on body buffer zones, crowding and territoriality is used to clarify and interpret the findings.
Female↗
Witnessing violence to staff: a study of nurses' experiences.
This article highlights a study into the effects of witnessing violence in a psychiatric hospital setting. The results show that the majority of respondents who had witnessed violence to a colleague experienced similar emotional distress as the victims. The authors suggest measures that may help staff in these and other clinical areas. They conclude that violence to staff should not be an accepted part of the working environment.
Burnout, Professional↗
Get involved.
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Attitude of Health Personnel↗
A study of the official records of seclusion.
The official records of seclusion on one locked ward in a city hospital were analysed. In the first instance we examined the frequency of seclusion, the sex and type of the patients secluded over a 4-year period. Following the introduction of a new recording system, a more detailed analysis of all the official records of seclusion over a 2-year period was then carried out (n = 225). The findings are presented here as simple frequency counts and provide a detailed picture of the use of seclusion in this particular area. They include details about the way in which seclusion was used on the ward and the reasons staff provided for secluding patients. The use of official records as research data illustrate how important insights into the daily care of psychiatric patients may be explored in a fruitful manner.
Australia↗
Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.
Malignant hyperthermia (MH) is an inherited skeletal muscle disorder and is one of the major causes of death resulting from anaesthesia. MH is currently diagnosed by the in vitro contracture test performed on a muscle biopsy. Genetic linkage analysis on an Irish MH pedigree showed that when the thresholds for the standardised European protocol for MHS diagnosis was applied, linkage between the MHS phenotype and the RYR1 locus was excluded. When we raised the threshold values for assignment of MHS status and assumed MHN diagnosis in subjects where this threshold was not attained, tight linkage between MHS and RYR1 markers was observed, suggesting that MHS is linked to the RYR1 locus in this pedigree. Confirmation of these results was borne out by the fact that all of the MHS patients in the pedigree exceeding the raised threshold carried the known MHS Gly341Arg RYR1 mutation. The results obtained could be explained (1) by false positive diagnosis of MHS in the recombinant subjects, (2) by the presence of a mutation in a predisposing gene other than RYR1, or (3) by the presence of mild subclinical myopathies. The implications of these results for heterogeneity studies is discussed.
Contracture↗
Haplotype analysis of the BYR1 gene in malignant hyperthermia and central core disease.
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Arginine↗
Staffing levels and seclusion use.
In this paper the role of staffing levels as a determinant of seclusion use in one psychiatric hospital is examined. A detailed review of the official records of seclusion over a 2-year period was completed (n = 225). The staffing levels on shifts when seclusions were initiated were compared with similar shifts when seclusions were not used on the same ward. Statistical analysis revealed a highly significant difference between the levels of staffing: Wilcoxon matched pairs signed-ranks test, Z = -5.8675, two-tailed, P = 0.001. This finding suggests that staffing levels play a crucial role in the practice of seclusion. However, the overall staffing level must be considered along with other factors in the makeup of the staff group, including the ratio of female to male staff and the experience level of those staff. These findings have important implications for those involved in the management and practice of seclusion as well as the patients who are secluded.
Female↗
The effect of staffing levels on the use of seclusion.
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Humans↗
Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics and depolarizing muscle relaxants. To date, six mutations in the skeletal muscle ryanodine receptor gene (RYR1) have been identified in malignant hyperthermia susceptible (MHS) and central core disease (CCD) cases. Using SSCP analysis, we have screened the RYR1 gene in affected individuals for novel MHS mutations and have identified a G to A transition mutation which results in the replacement of a conserved Gly at position 2433 with an Arg. The Gly2433Arg mutation was present in four of 104 unrelated MHS individuals investigated and was not detected in a normal population sample. This mutation is adjacent to the previously identified Arg2434His mutation reported in a CCD/MH family and indicates that there may be a second region in the RYR1 gene where MHS/CCD mutations cluster.
Amino Acid Sequence↗
Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics. To date, the ryanodine receptor gene (RYR1) has been shown to be mutated in a small number of malignant hyperthermia susceptible (MHS) cases. To determine if a common RYR1 mutation exists that might account for a significant number of MHS cases, we have investigated the RYR1 gene in unrelated patients for the presence of new mutations by the single-stranded conformation polymorphism method and have identified a novel Gly341Arg mutation which accounts for approximately 10% of Caucasian MHS cases. The implications of this common mutation in MHS diagnosis and heterogeneity studies are discussed.
Base Sequence↗
Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers.
OBJECTIVE: To define the region on human chromosome 19 carrying the gene for malignant hyperthermia susceptibility and to evaluate the use of flanking DNA markers in diagnosing susceptibility. DESIGN: Prospective molecular genetic linkage studies in a large malignant hyperthermia pedigree. SETTING: Irish malignant hyperthermia testing centre. SUBJECTS: A large Irish malignant hyperthermia pedigree. MAIN OUTCOME MEASURES: Routine diagnosis of susceptibility to malignant hyperthermia with in vitro contracture test on muscle biopsy specimens and genetic linkage between susceptibility and polymorphic DNA markers in a malignant hyperthermia family. RESULTS: Genetic typing of polymorphic DNA markers in a large Irish malignant hyperthermia pedigree generated a lod score of greater than 3 for the marker D19S9 and showed that the gene for susceptibility is flanked by the markers D19S9 and D19S16. These tightly linked flanking markers allowed non-invasive presymptomatic diagnosis of susceptibility in five untested subjects in the large pedigree with an accuracy of greater than 99.7%. CONCLUSIONS: DNA markers flanking the gene for susceptibility to malignant hyperthermia can be used with high accuracy to diagnose susceptibility in subjects in large known malignant hyperthermia pedigrees and may replace the previous in vitro contracture test for diagnosing this inherited disorder in large families with malignant hyperthermia.
Chromosomes, Human, Pair 19↗
Analysis of expression of the human ryanodine receptor gene in malignant hyperthermia skeletal muscle tissue.
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Animals↗