| 21. |
- Oldfors, Anders, 1951, et al.
(författare)
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Myopathies associated with myosin heavy chain mutations
- 2004
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Ingår i: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. - : The Mediterranean Society of Myology. - 1128-2460. ; 23:2, s. 90-6
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Tidskriftsartikel (refereegranskat)abstract
- Myosin, a molecular motor, converts chemical energy into mechanical force. The motor domain of myosin heavy chain (MyHC) includes an ATP binding region with ATPase activity and an actin-binding region. Motor function is achieved by conformational changes, at hydrolysis, of ATP causing a shift in the angle between the actin binding head and the rod region of the molecule. The elongated alpha-helical coiled-coil rod region of MyHC molecules constitutes the major part of the thick filaments of the sarcomere. Three major MyHC isoforms are expressed in human skeletal muscle (type I, MYH7, expressed in type 1 fibres; IIa, MYH2, expressed in 2A fibres; IIx, MYH1, expressed in 2B fibres). While mutations in slow/beta cardiac MyHC (MYH7) are a common cause of familial hypertrophic cardiomyopathy, no skeletal myopathies have, until recently, been associated with mutations in MyHC. A heterozygous mutation, Glu706Lys, in the core of the head of MyHC IIa is associated with a familial congenital myopathy, which, in most instances, has shown mild phenotypic expression in children but progressive course in some adults. There is a relationship between the level of expression of mutated MyHC IIa and muscle pathology. Some adults with a progressive course show muscle fibres with rimmed vacuoles and filaments of the type seen in inclusion body myositis/myopathy (IBM). Endurance training in a group of affected patients caused a shift in the expression of myosin from fast (IIx) to slow (I) isoforms but no reduction in the expression of MyHC IIa. A heterozygous mutation, Arg1845Trp, in the distal rod region of slow myosin (type I, MYH7) is associated with familial congenital myopathy, with large deposits of MyHC I in the subsarcolemmal region of type 1 muscle fibres, "Myosin storage myopathy". These patients showed slowly progressive muscle weakness but no overt cardiomyopathy. These two muscle diseases, which are caused by mutations in MyHC, form the basis of a novel entity: "Myosin myopathies".
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| 22. |
- Sterner, Bertil, 1959, et al.
(författare)
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The amplitude of accommodation in 6-10-year-old children - not as good as expected!
- 2004
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Ingår i: Ophthalmic & physiological optics. - : Wiley. - 0275-5408 .- 1475-1313. ; 24:3, s. 246-251
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to measure the amplitude of accommodation for junior level school children and to compare it with age-expected values. A junior level school in Göteborg, Sweden, was randomly chosen and the amplitude of accommodation among 76 children aged 6-10 years was examined using Donders' push-up method. The results showed lower amplitude than expected in a large group of children. Results also showed lower amplitude than previously reported for this age group, especially under monocular conditions, which revealed an average dioptric difference from the expected value of -3.60 dioptres (D) right eye (mean 12.40 D, median 12.00 D, S.D. 3.7 D) and -3.50 D left eye (mean 12.50 D, median 12.70 D, S.D. 3.8 D) (p < 0.001 for both eyes). Consequently, we conclude that it cannot be assumed that the amplitude of accommodation is in the expected amplitude range for all children of these ages.
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| 23. |
- Stibrant Sunnerhagen, Katharina, 1957, et al.
(författare)
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The effects of endurance training in persons with a hereditary myosin myopathy
- 2004
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Ingår i: Acta Neurologica Scandinavica. - : John Wiley & Sons. - 0001-6314 .- 1600-0404. ; 110:2, s. 80-6
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate muscle performance and its consequences in eight individuals with a hereditary myopathy and the effects of an 8-week endurance training program.MATERIAL AND METHODS: Handgrip, muscle strength and endurance and oxygen consumption by breath-by-breath analysis during a stepless bicycle ergonometer test were evaluated. Walking, balance test and activities of daily living (ADL) were assessed, and a questionnaire for activity level and perceived symptoms was used. The design was a before-after trial in comparison with data from a control population, bicycling at 70% of maximal workload, 30 min/day, 5 days/week for 8 weeks.RESULTS: The subjects were weaker than age-matched controls. After training, the peak watt increased by almost 20% (P < 0.05). Muscle strength (flexion/extension) and isometric endurance (40% of maximum at 60 degrees ) did not change significantly. The average self-selected walking speed increased significantly (P < 0.05) from 1.25 to 1.45 m/s. Compliance was excellent and no serious adverse events occurred.CONCLUSION: Endurance training seems to function for this myopathy.
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| 24. |
- Tajsharghi, Homa, et al.
(författare)
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Induced shift in myosin heavy chain expression in myosin myopathy by endurance training
- 2004
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Ingår i: Journal of Neurology. - : Steinkopff-Verlag. - 0340-5354 .- 1432-1459. ; 251:2, s. 179-183
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Tidskriftsartikel (refereegranskat)abstract
- We recently described a new autosomal dominant myopathy (OMIM #605637) associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene ( MYH2), which encodes for the fast myosin isoform that is expressed in type 2A muscle fibers. There was a correlation between muscle pathology and expression of MyHC IIa. Low expression of the mutation was associated with a milder phenotype. Since physical activity influences MyHC isoform expression in normal individuals, we investigated whether endurance training can alter the expression of MyHC isoforms in patients with the MYH2 mutation. The expression of MyHC I, IIa and IIx was analysed in muscle specimens from six patients before and after an eight-week endurancetraining program by SDS-polyacrylamide gel electrophoresis and immuno-histochemistry. There was a clear and consistent shift from fast to slow MyHC isoform expression, but the training program did not result in the desired reduction of MyHC IIa, which may be due to the limited time period of training. Fiber type transition was further illustrated by the appearance of hybrid muscle fibers expressing more than one MyHC isoform after the training period. All patients showed an increase in maximal workload but no significant change in isometric muscle strength.We conclude that endurance training in patients with myosin myopathy may be an important way to alter the expression of defective MyHC isoforms.
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| 25. |
- Tajsharghi, Homa, 1968, et al.
(författare)
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Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
- 2002
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Ingår i: Neurology. - : Lippincott Williams & Wilkins. - 0028-3878 .- 1526-632X. ; 58:5, s. 780-6
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The authors recently described a new autosomal dominant myopathy (OMIM 605637 inclusion body myopathy 3) associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MyHC IIa, Human Gene Map [HGM] locus MYH2). Young patients showed minor changes in their muscle biopsies, although dystrophic alterations and rimmed vacuoles with 15- to 20-nm tubulofilaments identical to those in sporadic inclusion body myositis (s-IBM) were observed in some of the adult (especially older) patients. The current study was undertaken to investigate the relation between expression of the mutant MyHC IIa and pathologic changes in muscle. METHODS: The expression of MyHC IIa in nine muscle specimens from six individuals carrying the mutation was analyzed by immunohistochemistry, sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and a new reverse transcriptase--PCR method to measure the relative abundance of the various MyHC transcripts. RESULTS: Young patients with muscle weakness and minor pathologic changes in muscle expressed MyHC IIa at undetectable levels. MyHC IIa was expressed at high levels in adults with a progressive clinical course and dystrophic muscle changes. In these cases, a large number of muscle fibers were hybrids with expression of more than one MyHC isoform. Both MyHC IIa alleles were equally expressed. The relative level of MyHC IIa transcripts exceeded that of the corresponding protein, indicating an increased turnover of mutated protein. MyHC IIa expression was a consistent finding in muscle fibers with rimmed vacuoles. CONCLUSIONS: The clear correlation between pathologic changes and expression of MyHC IIa indicates that defects in MyHC may lead not only to muscle weakness but also to muscle degeneration. The consistent expression of MyHC IIa in muscle fibers with rimmed vacuoles indicates that the breakdown of sarcomeric proteins is a key element in the pathogenesis of rimmed vacuoles of s-IBM type.
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| 26. |
- Tajsharghi, Homa, 1968, et al.
(författare)
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Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
- 2003
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Ingår i: Annals of neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 54:4, s. 494-500
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Tidskriftsartikel (refereegranskat)abstract
- Myosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/beta-cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles. Numerous missense mutations in the globular head of slow/beta-cardiac MyHC are associated with familial hypertrophic cardiomyopathy. We identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. The myopathy was characterized by muscle weakness and wasting with onset in childhood and slow progression, but no overt cardiomyopathy. Slow, oxidative, type 1 muscle fibers showed large inclusions consisting of slow/beta-cardiac MyHC. The features were similar to a previously described entity: hyaline body myopathy. Our findings indicate that the mutated residue of slow/beta-cardiac MyHC is essential for the assembly of thick filaments in skeletal muscle. We propose the term myosin storage myopathy for this disease.
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| 27. |
- Warrén-Stomberg, Margareta, et al.
(författare)
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Acute pain services
- 2003
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Ingår i: Current Anaesthesia and Critical Care. - : Elsevier. - 0953-7112 .- 1532-2033. ; 14:5-6, s. 211-215
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Tidskriftsartikel (refereegranskat)abstract
- An interdisciplinary acute pain service (APS) team seems the most attractive clinical organization model for postoperative pain management (POPM) to fulfil the intentions of pain management guidelines in practice. The specific knowledge of anaesthesiologists in the use of drugs and techniques for pain alleviation is of specific importance. Therefore, the anaesthetist is usually the team leader and works together with nurses in the postanaesthesia care unit (PACU), acute pain nurses (APN) and surgical ward nurses. A nurse-based anaesthesiologist supervised type of APS seems in several respects to be a suitable model for POPM in clinical practice.
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| 28. |
- Warrén-Stomberg, Margareta
(författare)
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Postoperative pain management : Nurse perspectives on acute pain services
- 2004
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Postoperative pain management (POPM) has remained an area of concern despite major efforts to improve pain assessment and management by the introduction of specified guidelines, advanced techniques for pain alleviation, and education of staff members. Different nurse specialists are involved in the perioperative care of surgical patients. It is still not known to what extent the specific information noted by the nurses about the individual surgical patient at the different steps of the perioperative management is taken into consideration so that a potentially more optimal, individualised POPM as part of acute pain services (APS) can be provided.The aims of the present study were to assess if information of potential value for the POPM is noted by nurse anaesthetists involved in the perioperative management of surgical patients and to what extent such information could be of value for an individualised POPM of surgical patients and if nurse involvement is of importance for the adequacy and efficacy of POPM routines in a nurse-based, anaesthesiologist-supervised acute pain service (APS) model on surgical wards.Semistructured interviews of nurse anaesthetists (n=40), questionnaire responses of staff members (n=375)/surgical patients (n=110) and assessment of medical records (n=135)/database data (n=222) were included for evaluation of factors of importance in the perioperative care and POPM of surgical patients. Descriptive statistics, non-parametric and parametric tests were used for the analysis of the data.It was found that nurse anaesthetists continuously monitor different stress evoked physiological signs induced by surgical interventions during general anaesthesia. Nurses considered the signs indicative of pain evoked stimuli and/or insufficient depth of anaesthesia. The intraoperative information of the response pattern and anaesthetic drug requirements of the individual patient noted by the nurse anaesthetist was considered at present not to be routinely taken into consideration but could be a successful strategy in an optimal multi-professional approach to postoperative pain management. The introduction of APS, using a nurse-based anaesthesiologist-supervised model, resulted in more adequate pain management routines, better patient satisfaction with information about POPM, and increased confidence in pain management among nurses on the surgical wards than was noted for the outcome data for the hospital not having introduced such an APS model. Database documentation of outcome measures of POPM for patients receiving postoperative epidural analgesia was found to provide valuable information about the adequacy of the POPM. The feedback of information from the anaesthesia services to the surgical ward nurses was found not to be efficient enough to make ward nurses properly aware of the importance of their own direct involvement in the documentation process of POPM and that such involvement could further optimise POPM outcome
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| 29. |
- Warrén Stomberg, Margareta, et al.
(författare)
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Postoperative pain management on surgical wards-impact of database documentation of anesthesia organized services.
- 2003
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Ingår i: Pain management nursing : official journal of the American Society of Pain Management Nurses. - : Elsevier. - 1524-9042 .- 1532-8635. ; 4:4, s. 155-64
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Tidskriftsartikel (refereegranskat)abstract
- Postoperative pain management (POPM) should be based on an organization exploiting existing expertise and documenting the outcome of the POPM in each individual patient. The aims of the present study were to evaluate the adequacy of database documentation of POPM of an anesthesia organized, nurse-based, anesthesiologist-supervised acute pain service (APS) on surgical wards and to assess to what extent the information obtained was continuously used to improve practice. From 2890 registered cases in the database (patient controlled analgesia, n = 1975; epidural analgesia [EDA], n = 915), a homogeneous two-year sample of documentation charts from use of EDA for POPM in connection with major, open, abdominal surgical procedures (n = 381) was chosen for detailed analysis. The data charts contained information on patient data, drug dosage, total amount of infused drug, duration of EDA treatment, occurrence of side effects, and patient's level of satisfaction. The database information was easily accessible making assessment of relevant aspects of the routines, including associations between analgesic technique, patient related factors, and satisfaction with the services, immediately available. Only 58% of the data charts were properly completed and fed into the database but the clinical safety of the missing nondatabase documented sample was not found jeopardized. Although the database documentation routines were considered to fulfill basic requirements of data collection and monitoring of the appropriateness of POPM, they were not found to function optimally. The reason seemed to be inadequate feedback of information between the parties involved in the POPM services. The present study stresses the importance of establishing routines for adequate, continuous feedback of recorded audit data from the APS team to the surgical wards for the maintenance of a high level of compliance with accepted guidelines.
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| 30. |
- Warrén Stomberg, Margareta, et al.
(författare)
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Routine intra-operative assessment of pain and/or depth of anaesthesia by nurse anaesthetists in clinical practice.
- 2001
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Ingår i: Journal of clinical nursing. - : Wiley Interscience. - 0962-1067 .- 1365-2702. ; 10:4, s. 429-36
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Tidskriftsartikel (refereegranskat)abstract
- Patient safety and comfort during general anaesthesia and surgery are to a considerable extent dependent on the capability of anaesthesia personnel to interpret directly monitored as well as indirect clinical signs of pain and/or depth of anaesthesia. The aim of the present study was to evaluate how nurse anaesthetists in their clinical routine work assess and interpret intra-operative responses evoked by pain stimuli and/or insufficient depth of anaesthesia. A questionnaire was designed to assess the perceived relevance and validity of cardiovascular, respiratory, mucocutaneous, eye-associated, and muscular responses for routine assessment of intra-operative pain and/or insufficient depth of anaesthesia in patients undergoing surgery under general anaesthesia. Data were obtained from 223 nurse anaesthetists working at nine different university anaesthesia departments in Sweden. A number of significant indicators for pain and depth of anaesthesia could be identified for spontaneously breathing as well as for mechanically ventilated patients. No variable was considered entirely specific for either intra-operative pain or depth of anaesthesia. Changes in breathing rate/volume, central haemodynamics (BP, HR), lacrimation, and presence of moist and sticky skin were given higher score values as indicators of pain than as indicators of depth of anaesthesia. Occurrence of grimaces, attempted movements, and presence of non-centred pupils were variables considered more indicative of insufficient depth of anaesthesia than intra-operative pain. In conclusion, it is obvious from the present data that indirect physiological signs of intra-operative pain and depth of anaesthesia are still considered of importance by Swedish anaesthesia nurses in the anaesthetic management of surgical patients.
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