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- Hikmat, O., et al.
(författare)
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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
- 2020
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Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:4, s. 726-736
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Tidskriftsartikel (refereegranskat)abstract
- Background: Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition. Methods: A multinational, retrospective study using data from 155 patients with POLG variants recruited from seven European countries. Results: We describe the spectrum of clinical features associated with POLG variants in the largest known cohort of patients. While clinical features clearly form a continuum, stratifying patients simply according to age of onset—onset prior to age 12 years; onset between 12 and 40 years and onset after the age of 40 years, permitted us to identify clear phenotypic and prognostic differences. Prior to 12 years of age, liver involvement (87%), seizures (84%), and feeding difficulties (84%) were the major features. For those with onset between 12 and 40 years, ataxia (90%), peripheral neuropathy (84%), and seizures (71%) predominated, while for those with onset over 40 years, ptosis (95%), progressive external ophthalmoplegia (89%), and ataxia (58%) were the major clinical features. The earlier the onset the worse the prognosis. Patients with epilepsy and those with compound heterozygous variants carried significantly worse prognosis. Conclusion: Based on our data, we propose a simplified POLG disease classification, which can be used to guide diagnostic investigations and predict disease course. © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM
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| 3. |
- Hikmat, O., et al.
(författare)
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The impact of gender, puberty, and pregnancy in patients with POLG disease
- 2020
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Ingår i: Annals of Clinical and Translational Neurology. - : Wiley. - 2328-9503. ; 7:10, s. 2019-2025
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Tidskriftsartikel (refereegranskat)abstract
- Objective To study the impact of gender, puberty, and pregnancy on the expression of POLG disease, one of the most common mitochondrial diseases known. Methods Clinical, laboratory, and genetic data were collected retrospectively from 155 patients with genetically confirmed POLG disease recruited from seven European countries. We used the available data to study the impact of gender, puberty, and pregnancy on disease onset and deterioration. Results We found that disease onset early in life was common in both sexes but there was also a second peak in females around the time of puberty. Further, pregnancy had a negative impact with 10 of 14 women (71%) experiencing disease onset or deterioration during pregnancy. Interpretation Gender clearly influences the expression of POLG disease. While onset very early in life was common in both males and females, puberty in females appeared associated both with disease onset and increased disease activity. Further, both disease onset and deterioration, including seizure aggravation and status epilepticus, appeared to be associated with pregnancy. Thus, whereas disease activity appears maximal early in life with no subsequent peaks in males, both menarche and pregnancy appear associated with disease onset or worsening in females. This suggests that hormonal changes may be a modulating factor.
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| 4. |
- Johansson, K. E., et al.
(författare)
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Identification of three clusters of canine intestinal spirochaetes by biochemical and 16S rDNA sequence analysis
- 2004
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Ingår i: Journal of Medical Microbiology. - : Microbiology Society. - 0022-2615 .- 1473-5644. ; 53:4, s. 345-350
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Tidskriftsartikel (refereegranskat)abstract
- It has been suggested that canine intestinal spirochaetes consist of Brachyspira pilosicoli and a group of strains that has been provisionally designated 'Brachyspira canis'. The purpose of the present study was to compare 22 spirochaete isolates that were obtained from intestinal specimens of dogs in Sweden (n = 12), Norway (n = 4), the United States (n = 3), Australia (n = 2) and Germany (n = 1) with type and reference strains, as well as field isolates, of Brachyspira species by five biochemical tests and determination of almost-complete 16S rDNA sequences. In an evolutionary tree derived from 16S rDNA sequences, the canine isolates grouped into three clusters. One cluster included the type strain of porcine B. pilosicoli, whereas a second larger cluster, which was monophyletic, contained a canine strain that was identified previously as 'B. canis'. The third cluster consisted of three canine isolates of Scandinavian origin, which grouped together with the type strain of the species Brachyspira alvinipulli (pathogenic to chicken). These three genotypes, which were identified on the basis of 16S rDNA sequences, corresponded to four phenotypic groups based on biochemical testing. Two biochemical tests, hippurate hydrolysis and alpha-galactosidase production, were sufficient for rapid identification of each canine cluster.
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| 8. |
- Blomstrand, Peter, et al.
(författare)
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Cardiovascular effects of dobutamine stress testing in women with suspected coronary artery disease
- 1996
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Ingår i: Heart. - : BMJ Publishing Group Ltd. - 1355-6037 .- 1468-201X. ; 75:5, s. 463-468
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Tidskriftsartikel (refereegranskat)abstract
- Objective. To investigate the central and peripheral haemodynamic response to dobutamine stress testing in women with suspected ischaemic heart disease and to seek an explanation for the hypotension phenomenon. Design. 18 women aged 54-73 years were investigated with Doppler echocardiography and venous occlusion plethysmography during intravenous infusion of dobutamine 5-10 d after an episode of unstable angina. Results. An average peak dose of 33 (SD 9.7) μg/kg/min was given. Heart rate and cardiac output increased by 49% and 59%, respectively (P < 0.001). Total and leg peripheral vascular resistance decreased by 44% and 26%, respectively (P < 0.001). Four patients developed hypotension (decrease in systolic blood pressure > 10 mm Hg), one of whom had a paradoxical bradycardia and two a low increase in cardiac output. Patients with hypotension had a more pronounced decrease in total peripheral vascular resistance but a similar change in leg peripheral vascular resistance compared with patients without hypotension. Conclusions. Dobutamine infusion leads to marked peripheral vasodilatation and an increase in cardiac output. Some patients experience hypotension during the test for reasons which include paradoxical vasovagal reactions and diminished capacity for adequate increase in cardiac output. There is also a disparity between the pattern of total and leg peripheral vascular resistance in patients with hypotension which might reflect a baroreceptor mediated compensatory increase in vasoconstrictor tone of muscle vessels not matched in other vascular territories.
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