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- Engvall, Jan, et al.
(författare)
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Moderately trained male football players, compared to sedentary male adults, exhibit anatomical but not functional cardiac remodelling, a cross-sectional study
- 2021
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Ingår i: Cardiovascular Ultrasound. - : BMC. - 1476-7120. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background Elite athletes have been the subject of great interest, but athletes at an intermediate level of physical activity have received less attention in respect to the presence of cardiac enlargement and/or hypertrophy. We hypothesized that playing football, often defined as demanding less endurance components than running or cycling, would still induce remodelling similar to sports with a dominating endurance component. Methods 23 male football players, age 25+/- 3.9 yrs. underwent exercise testing, 2D- and 3D- echocardiography and cardiac magnetic resonance (CMR). The results were compared with a control group of engineering students of similar age. The athletes exercised 12 h/week and the control subjects 1 h/week, p < 0.001. Results The football players achieved a significantly higher maximal load at the exercise test (380 W vs 300 W, p < 0.001) as well as higher calculated maximal oxygen consumption, (49.7 vs 37.4 mL x kg(- 1) x min(- 1), p < 0.001) compared to the sedentary group. All left ventricular (LV) volumes assessed by 3DEcho and CMR, as well as CMR left atrial (LA) volume were significantly higher in the athletes (3D-LVEDV 200 vs 154 mL, CMR-LVEDV 229 vs 185 mL, CMR-LA volume 100 vs 89 mL, p < 0.001, p = 0.002 and p = 0.009 respectively). LVEF and RVEF, LV strain by CMR or by echo did not differentiate athletes from sedentary participants. Right ventricular (RV) longitudinal strain, LA and right atrial (RA) strain by CMR all showed similar results in the two groups. Conclusion Moderately trained intermediate level football players showed anatomical but not functional cardiac remodelling compared to sedentary males.
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| 3. |
- Landberg, Eva, et al.
(författare)
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Disialo–trisialo bridging of transferrin is due to increased branching and fucosylation of the carbohydrate moiety
- 2012
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Ingår i: Clinica Chimica Acta. - : Elsevier. - 0009-8981 .- 1873-3492. ; 414, s. 58-64
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundCarbohydrate deficient transferrin (CDT) is used for detection of alcohol abuse and follow-up. High performance liquid chromatography (HPLC) of transferrin glycoforms is highly specific for identification of alcohol abuse, but unresolved disialo- and trisialotransferrin glycoforms sometimes makes interpretation difficult. The cause of this phenomenon is unknown, cannot be explained by genetic variants of transferrin, but seems to be associated with liver disease.MethodsNineteen serum samples showing di–tri bridging when analyzed by HPLC were collected. Transferrin was purified by affinity chromatography, and N-linked oligosaccharides were released enzymatically. The N-glycans were further analyzed by high performance anion-exchange chromatography with pulsed amperometric detection and MALDI-TOF mass spectrometry.ResultsThe HPLC-analysis showed three different types of glycoform patterns. The N-glycans from fifteen samples showed patterns with increased number of triantennary structures containing one or two fucose residues. One sample contained an increased amount of triantennary glycans without fucose. Three samples showed a glycosylation pattern similar to normal transferrin.ConclusionsThe di–tri bridging phenomenon was associated with alterations in transferrin glycosylation in the majority of cases. Transferrin contained a higher extent of triantennary and often fucosylated N-linked oligosaccharides. These results may be important in future diagnostic approaches to liver diseases.
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| 4. |
- Leal, Gabriela Ferraz, et al.
(författare)
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Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- 2018
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431. ; 33:4, s. 753-760
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Tidskriftsartikel (refereegranskat)abstract
- Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia (MIM:211350) and mesomelic dysplasia Kozlowski-Reardon (MIM249710), both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI. Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. In this report, we present six patients from four families with novel PLOD2 variants. All cases had multiple fractures. Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia-like phenotype who were stillborn had compound heterozygous variants in PLOD2 (p.Asp585Val and p.Ser166*). One infant who succumbed at age 4 months had a bent bone phenotype phenotypically like skeletal dysplasia Kozlowski-Reardon (with mesomelic shortening, camptodactyly, retrognathia, cleft palate, skin dimples, but also with fractures). He was homozygous for the nonsense variant (p.Trp561*). Two siblings had various degrees of Bruck syndrome caused by the homozygous missense variant, p.His687Arg. Furthermore a boy with a clinical presentation of moderate OI had a possibly pathogenic homozygous variant p.Trp588Cys. Our experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD2-related phenotypes.
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| 8. |
- Andersson, Kristofer, et al.
(författare)
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Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study
- 2017
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Ingår i: PLOS ONE. - : PUBLIC LIBRARY SCIENCE. - 1932-6203. ; 12:5
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Tidskriftsartikel (refereegranskat)abstract
- Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p. Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p. Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.
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| 9. |
- Aneq Åström, Meriam, et al.
(författare)
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Determination of right ventricular volume and function using multiple axially rotated MRI slices
- 2011
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Ingår i: Clinical Physiology and Functional Imaging. - : Blackwell Publishing Ltd. - 1475-0961 .- 1475-097X. ; 31:3, s. 233-239
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Tidskriftsartikel (refereegranskat)abstract
- Pandgt;Background: The conventional magnetic resonance imaging (MRI) method for right ventricular (RV) volume and motion, using short-axis (SA) orientation, is limited by RV anatomy and shape. We suggest an orientation based on six slices rotated around the long axis of the RV, rotated long axis (RLA). Materials and methods: Three phantoms were investigated in SA and RLA using cine balanced steady-state free precession MRI. Volumes were calculated based on segmentation and checked against true volumes. In 23 healthy male volunteers, we used six long-axis planes from the middle of the tricuspid valve to the RV apex, rotated in 30 degrees increments. For comparison, short-axis slices were acquired. Imaging parameters were identical in both acquisitions. Results: Right ventricular end-diastolic (EDV), end-systolic (ESV) and stroke volumes (SV) determined in the RLA 179 center dot 1 +/- 29 center dot 3; 80 center dot 1 +/- 17 center dot 1; 99 center dot 3 +/- 16 center dot 9 ml and in the SA were 174 center dot 0 +/- 21 center dot 1; 78 center dot 8 +/- 13 center dot 6; 95 center dot 3 +/- 14 center dot 5 ml with P-values for the difference from 0 center dot 17 to 0 center dot 64 (ns). Interobserver variability ranged between 3 center dot 2% and 6 center dot 6% and intraobserver variability between 2 center dot 8% and 6 center dot 8%. In SA views, consensus for the definition of the basal slice was necessary in 39% of the volunteers for whom the average volume change was 20% in ESV and 10% in EDV. Conclusions: The RLA method results in better visualization and definition of the RV inflow, outflow and apex. Accurate measurement of RV volumes for diagnosis and follow-up of cardiac diseases are enhanced by the RLA orientation, even though additional acquisition time is required.
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| 10. |
- Aneq Åström, Meriam, et al.
(författare)
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Evaluation of Right and Left Ventricular Function Using Speckle Tracking Echocardiography in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy and Their First Degree Relatives
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Introduction and aim: The identification of right ventricular abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) in early stages is still difficult. The aim of this study was to investigate if longitudinal strain based on speckle tracking can detect subtle right (RV) or left ventricular (LV) dysfunction as an early sign of ARVC. Methods and results: Seventeen male patients, fulfilling Task force criteria for ARVC, 49 (32-70) years old, nineteen male first degree relatives 29 (19-73) y.o. and twenty-two healthy male volunteers 36 (24-66) y.o participated in the study. Twelve-lead and signal-averaged electrocardiograms were recorded. All subjects underwent echocardiography. LV and RV diameters, peak systolic velocity from tissue Doppler and longitudinal strain based on speckle tracking were measured from the basal and mid segments in both ventricles. RV longitudinal strain measurement was successful in first degree relatives and controls (95 resp. 86%) but less feasible in patients (59%). Results were not systematically different between first degree relatives and controls. Using discriminant analysis, we then developed an index based on echocardiographic parameters. All normal controls had an index Conclusion: Longitudinal strain of LV and RV segments was significantly lower in patients than in relatives and controls. An index was developed incorporating dimensional and functional echocardiographic parameters. In combination with genetic testing this index might help to detect early phenotype expression in mutation carriers.
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