| 1. |
- Björkman, Kristoffer, et al.
(författare)
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Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1
- 2014
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Ingår i: Euromit 2014, 15-19 juni, Tampere, Finland.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Objectives: To study genotype-phenotype correlations in genes encoding complex I electron input module subunits. Materials and methods: We studied five patients with isolated complex I deficiency, three with NDUFS1 mutations and two with NDUFV1 mutations. A literature review of all reported cases of mutations in the affected genes was performed. Results: The literature review revealed pathological mutations in NDUFS1 for 18 patients in 17 families and correspondingly in NDUFV1 for 26 patients in 19 families. Unpublished clinical data for our five patients were added. Our study showed quite variable clinical courses; death before two years of age was seen in 41% of patients while 18% were alive at seven years. There was a significant difference between the NDUFS1 and NDUFV1 groups for clinical onset and life-span. Mutations in NDUFS1 were linked to a worse clinical course with earlier onset and earlier death. Conclusions: Genotype-phenotype correlations in patients with mutations affecting the genes that encode the electron input module of complex I vary, but patients with NDUFS1 mutation tend to have a worse clinical course than patients with NDUFV1 mutation. Identifying the mutations is of importance for accurate prognostic information and genetic counseling.
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| 2. |
- Schöll, Michael, 1980, et al.
(författare)
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Biomarkers for tau pathology.
- 2019
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Ingår i: Molecular and cellular neurosciences. - : Elsevier BV. - 1095-9327 .- 1044-7431. ; 97, s. 18-33
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Forskningsöversikt (refereegranskat)abstract
- The aggregation of fibrils of hyperphosphorylated and C-terminally truncated microtubule-associated tau protein characterizes 80% of all dementia disorders, the most common neurodegenerative disorders. These so-called tauopathies are hitherto not curable and their diagnosis, especially at early disease stages, has traditionally proven difficult. A keystone in the diagnosis of tauopathies was the development of methods to assess levels of tau protein in vivo in cerebrospinal fluid, which has significantly improved our knowledge about these conditions. Tau proteins have also been measured in blood, but the importance of tau-related changes in blood is still unclear. The recent addition of positron emission tomography ligands to visualize, map and quantify tau pathology has further contributed with information about the temporal and spatial characteristics of tau accumulation in the living brain. Together, the measurement of tau with fluid biomarkers and positron emission tomography constitutes the basis for a highly active field of research. This review describes the current state of biomarkers for tau biomarkers derived from neuroimaging and from the analysis of bodily fluids and their roles in the detection, diagnosis and prognosis of tau-associated neurodegenerative disorders, as well as their associations with neuropathological findings, and aims to provide a perspective on how these biomarkers might be employed prospectively in research and clinical settings.
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| 3. |
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| 4. |
- Engström, Gunnar, et al.
(författare)
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The Swedish CArdioPulmonary BioImage Study : objectives and design
- 2015
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 278:6, s. 645-659
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Tidskriftsartikel (refereegranskat)abstract
- Cardiopulmonary diseases are major causes of death worldwide, but currently recommended strategies for diagnosis and prevention may be outdated because of recent changes in risk factor patterns. The Swedish CArdioPulmonarybioImage Study (SCAPIS) combines the use of new imaging technologies, advances in large-scale 'omics' and epidemiological analyses to extensively characterize a Swedish cohort of 30 000 men and women aged between 50 and 64 years. The information obtained will be used to improve risk prediction of cardiopulmonary diseases and optimize the ability to study disease mechanisms. A comprehensive pilot study in 1111 individuals, which was completed in 2012, demonstrated the feasibility and financial and ethical consequences of SCAPIS. Recruitment to the national, multicentre study has recently started.
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| 5. |
- van Westen, Danielle, et al.
(författare)
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Cerebral white matter lesions - associations with A beta isoforms and amyloid PET
- 2016
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6:20709
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Tidskriftsartikel (refereegranskat)abstract
- Small vessel disease (SVD) and amyloid deposition may promote each other, with a potential association between SVD and altered production or clearance of beta-amyloid (A beta) affecting its cleavage products. We investigated the relationship between SVD, multiple isoforms of A beta in cerebrospinal fluid (CSF) and cortical A beta in 831 subjects with cognitive performance ranging from normal to Alzheimer's disease (AD) (the Swedish BioFINDER study). SVD was estimated as white matter lesions (WML) and lacunes. 18F-flutemetamol PET was performed in 321 subjects. Lower CSF levels of A beta 38 and A beta 40 were consistently associated with increased WML in all subgroups, while lower levels of CSF A beta 42 were associated with WML mainly in AD. CSF A beta 38 and A beta 40 were associated with regional WML in all regions, while CSF A beta 42 was associated with temporal WML only. A composite measure of 18F-flutemetamol uptake was not associated with WML, and regional 18F-flutemetamol uptake only with temporal WML. Lacunes were not associated with A beta isoforms nor 18F-flutemetamol uptake. Our results suggest that WML may be associated with alterations in the production or clearance of A beta species, particularly of A beta 38 and A beta 40. However, in AD cases, A beta 42 pathology might be associated with WML, especially in the temporal lobe.
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| 6. |
- Nyberg, Jan, 1960-, et al.
(författare)
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Osseointegration of implants in irradiated bone with and without hyperbaric oxygen treatment : an experimental study in rat tibiae
- 2013
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Ingår i: International Journal of Oral & Maxillofacial Implants. - : Quintessence Publishing Co., Inc.. - 0882-2786 .- 1942-4434. ; 28:3, s. 739-746
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Hyperbaric oxygen (HBO) has been recommended to enhance implant osseointegration in irradiated bone. The aim of this study was to further investigate the effects of HBO on implant integration in irradiated bone tissue.Materials and Methods: The present study was an experimental intraindividual study in 16 rats. A single fraction of 20 Gy external irradiation was applied to one rat hind leg, while the other served as a nonirradiated control. Three days after radiation, two implants were inserted in each tibial tuberosity. The rats were divided into two groups: non-HBO treated (group 1) and HBO treated (group 2). Five weeks after radiation, removal torque tests were performed. Implants with surrounding tissue were processed to undecalcified cut and ground sections for histomorphometric evaluations of bone-to-implant contact and bone area. Retrieved bones were also investigated with dual-energy x-ray absorptiometry.Results: The non-HBO treated rats (group 1) demonstrated higher, but not statistically significantly higher, values in the nonirradiated leg for all investigated parameters compared to the HBO-treated rats (group 2). However, the mean value for bone area was significantly higher in the irradiated sides compared to the nonirradiated control sides.Conclusions: In the present study, HBO treatment did not have a significant impact on osseointegration of implants in irradiated bone.
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| 7. |
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| 8. |
- Makvandi, Kianoush, et al.
(författare)
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Multiparametric magnetic resonance imaging allows non-invasive functional and structural evaluation of diabetic kidney disease
- 2022
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Ingår i: Clinical Kidney Journal. - : Oxford University Press (OUP). - 2048-8505 .- 2048-8513. ; 15:7, s. 1387-1402
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Tidskriftsartikel (refereegranskat)abstract
- Background We sought to develop a novel non-contrast multiparametric MRI (mpMRI) protocol employing several complementary techniques in a single scan session for a comprehensive functional and structural evaluation of diabetic kidney disease (DKD). Methods In the cross-sectional part of this prospective observational study, 38 subjects ages 18-79 years with type 2 diabetes and DKD [estimated glomerular filtration rate (eGFR) 15-60 mL/min/1.73 m(2)] and 20 age- and gender-matched healthy volunteers (HVs) underwent mpMRI. Repeat mpMRI was performed on 23 DKD subjects and 10 HVs. By measured GFR (mGFR), 2 DKD subjects had GFR stage G2, 16 stage G3 and 20 stage G4/G5. A wide range of MRI biomarkers associated with kidney haemodynamics, oxygenation and macro/microstructure were evaluated. Their optimal sensitivity, specificity and repeatability to differentiate diabetic versus healthy kidneys and categorize various stages of disease as well as their correlation with mGFR/albuminuria was assessed. Results Several MRI biomarkers differentiated diabetic from healthy kidneys and distinct GFR stages (G3 versus G4/G5); mean arterial flow (MAF) was the strongest predictor (sensitivity 0.94 and 1.0, specificity 1.00 and 0.69; P = .04 and .004, respectively). Parameters significantly correlating with mGFR were specific measures of kidney haemodynamics, oxygenation, microstructure and macrostructure, with MAF being the strongest univariate predictor (r = 0.92; P < .0001). Conclusions A comprehensive and repeatable non-contrast mpMRI protocol was developed that, as a single, non-invasive tool, allows functional and structural assessment of DKD, which has the potential to provide valuable insights into underlying pathophysiology, disease progression and analysis of efficacy/mode of action of therapeutic interventions in DKD.
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| 9. |
- Alevronta, Eleftheria, et al.
(författare)
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Dose-response relationships of intestinal organs and excessive mucus discharge after gynaecological radiotherapy
- 2021
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203 .- 1932-6203. ; 16:4 April
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Tidskriftsartikel (refereegranskat)abstract
- Background The study aims to determine possible dose-volume response relationships between the rectum, sigmoid colon and small intestine and the ‘excessive mucus discharge’ syndrome after pelvic radiotherapy for gynaecological cancer. Methods and materials From a larger cohort, 98 gynaecological cancer survivors were included in this study. These survivors, who were followed for 2 to 14 years, received external beam radiation therapy but not brachytherapy and not did not have stoma. Thirteen of the 98 developed excessive mucus discharge syndrome. Three self-assessed symptoms were weighted together to produce a score interpreted as ‘excessive mucus discharge’ syndrome based on the factor loadings from factor analysis. The dose-volume histograms (DVHs) for rectum, sigmoid colon, small intestine for each survivor were exported from the treatment planning systems. The dose-volume response relationships for excessive mucus discharge and each organ at risk were estimated by fitting the data to the Probit, RS, LKB and gEUD models. Results The small intestine was found to have steep dose-response curves, having estimated dose-response parameters: γ : 1.28, 1.23, 1.32, D : 61.6, 63.1, 60.2 for Probit, RS and LKB respectively. The sigmoid colon (AUC: 0.68) and the small intestine (AUC: 0.65) had the highest AUC values. For the small intestine, the DVHs for survivors with and without excessive mucus discharge were well separated for low to intermediate doses; this was not true for the sigmoid colon. Based on all results, we interpret the results for the small intestine to reflect a relevant link. Conclusion An association was found between the mean dose to the small intestine and the occurrence of ‘excessive mucus discharge’. When trying to reduce and even eliminate the incidence of ‘excessive mucus discharge’, it would be useful and important to separately delineate the small intestine and implement the dose-response estimations reported in the study.
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| 10. |
- Burgu, Berk, et al.
(författare)
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Pelvic reduction during pyeloplasty for antenatal hydronephrosis: does it affect outcome in ultrasound and nuclear scan postoperatively?
- 2010
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Ingår i: Urology. - : Elsevier BV. - 1527-9995 .- 0090-4295. ; 76:1, s. 169-74
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Tidskriftsartikel (refereegranskat)abstract
- To compare ultrasound (US) scan and nuclear renography findings in patients who underwent pyeloplasty with and without pelvic reduction in a randomized prospective study.A total of 42 patients, all prenatally diagnosed with unilateral hydronephrosis, were included. Hydronephrosis was confirmed postnatally. Twenty patients were randomly selected to undergo pyeloplasty with pelvic reduction and 22 underwent pelvis-sparing pyeloplasty. Patients were evaluated with mercaptoacetyltriglycine-3 scans on the sixth month and US scans on the first, third, and sixth months, postoperatively. Mean follow-up was 37 +/- 5.6 weeks. Statistical analyses were performed using chi-square test and significance was set as P <.05. Power analyses were performed by the NCSS-PASS program. Power value of 0.84 was calculated for a sample size of 42.The anteroposterior pelvic diameter decreased significantly in the pelvic reduction group compared with pelvis-sparing group in the first- and third-month US scans. However, the difference was not significant in the sixth month. The improvements in the US findings for the pelvis-sparing group match with those of the pelvic reduction group later in the postoperative period. Pelvic reduction significantly improved the renal washout time (T(1/2)) in mercaptoacetyltriglycine-3 renography when compared with pyeloplasty group without reduction at postoperative sixth month. Differential renal function was found to be unaffected from pelvic reduction.Resolution of anteroposterior diameter in US scan is more prominent in the pelvic reduction group at earlier stages of the postoperative period. Although T(1/2) decreases more prominently in the pelvic reduction group, the utility of this procedure is still indecisive. This feature can reveal possible surgical failures earlier and strengthen the values of US and renography postoperatively.
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