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- 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 Unpublished clinical data for our five patients were added.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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| 4. |
- 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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| 5. |
- 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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| 6. |
- Grände, Per-Olof, et al.
(författare)
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Segmental cerebral vasoconstriction: successful treatment of secondary cerebral ischaemia with intravenous prostacyclin.
- 2010
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Ingår i: Cephalalgia. - : SAGE Publications. - 0333-1024 .- 1468-2982. ; 30:7, s. 890-895
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Tidskriftsartikel (refereegranskat)abstract
- We describe a 23-year-old male patient who presented with spontaneous intermittent and increasing attacks of severe, left-sided thunderclap headache combined with rapidly progressive muscle weakness and dysphasia, including gradual loss of consciousness. Subsequent CT, MRI and DSA showed progressive brain ischaemia and oedema within the left cerebral hemisphere with strict ipsilateral segmental arterial vasoconstriction. Despite extensive medical care, including steroids, the patient deteriorated rapidly. However, the clinical course changed dramatically within 15 h after the start of an intravenous infusion of prostacyclin at a dose of 0.9 ng/kg/min, with an almost complete recovery of consciousness and speech. In addition the pathophysiological alterations seen on magnetic resonance (imaging and digital) subtraction angiography including diffusion-weighted imaging and apparent diffusion coefficient maps shortly before prostacyclin treatment were clearly reduced when the patient was examined 3-4 days later and he continued to recover thereafter. Although not fully compatible, our case had several clinical characteristics and radiological findings reminiscent of those of the 'segmental reversible vasoconstriction syndrome', sometimes called the Call-Fleming syndrome.
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| 7. |
- Johansson, Björn
(författare)
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Opacification of anterior part of hydrophilic acrylic IOL or a prelenticular inflammatory membrane?
- 2012
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Ingår i: Journal of cataract and refractive surgery. - Philadelphia : Elsevier. - 0886-3350 .- 1873-4502. ; 38:6, s. 1115-1116
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Tidskriftsartikel (refereegranskat)abstract
- In their recent case report, Park and Chuck1 describe the bilateral appearance of an opacification at the plane of the anterior surface of the hydrophilic acrylic Akreos MI60 intraocular lens (IOL) (Bausch & Lomb). The patient's general history of diabetes mellitus, proliferative retinopathy, and iris rubeosis explains the limited pupil dilation preventing visualization of the capsulorhexis opening in their slitlamp images.
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| 8. |
- Ottosson, Sandra, 1981-, et al.
(författare)
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Weight and body mass index in relation to irradiated volume and to overall survival in patients with oropharyngeal cancer: a retrospective cohort study
- 2014
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Ingår i: Radiation Oncology. - 1748-717X. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Background: Weight loss is a common problem in patients with Squamous Cell Carcinoma of the Head and Neck (SCCHN) treated with radiotherapy (RT). The aims of the present study were to determine if treated volume (TV), as a measure of the radiation dose burden, can predict weight loss in patients with oropharyngeal cancer and to analyze weight loss and body mass index (BMI) in the same patient group in relation to 5-year overall survival. Methods: The ARTSCAN trial is a prospective, randomized, multicenter trial in patients with SCCHN. Nutritional data from the ARTSCAN trial were analyzed retrospectively using univariate and multivariate statistical methods based on information on percentage weight loss from the start of RT up to five months after the termination of RT (study cohort 1, n = 232) and information on patients' BMI at the start of RT (study cohort 2, n = 203). TV was defined as the volume of the patient receiving at least 95% of the prescribed dose. TV64.6 (Gy) encompasses macroscopic tumor and TV43.7 (Gy) elective lymph nodes of the neck. Results: TV64.6 Gy and TV43.7 Gy were both significantly correlated with higher weight loss up to five months after the termination of RT in study cohort 1 (p < 0.001 for both). BMI at the start of RT was shown to be a prognostic factor for 5-year overall survival in study cohort 2 but weight loss was not. The hazard ratios and 95% confidence intervals were 3.78 (1.46-9.75) and 2.57 (1.43-4.62) in patients with underweight and normal weight, respectively. Conclusions: TV can predict weight loss during RT in patients with oropharyngeal cancer regardless of clinical stage. A high BMI (>25 kg/m(2)) at the start of RT is positively associated with survival in patients with oropharyngeal cancer.
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| 9. |
- Brown, J, et al.
(författare)
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Basic training requirements for the use of dental CBCT by dentists : a position paper prepared by the European Academy of DentoMaxilloFacial Radiology
- 2014
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Ingår i: Dento-Maxillo-Facial Radiology. - : British Institute of Radiology. - 0250-832X .- 1476-542X. ; 43:1
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Tidskriftsartikel (refereegranskat)abstract
- Cone beam CT (CBCT) is a relatively new imaging modality, which is now widely available to dentists for examining hard tissues in the dental and maxillofacial regions. CBCT gives a three-dimensional depiction of anatomy and pathology, which is similar to medical CT and uses doses generally higher than those used in conventional dental imaging. The European Academy of DentoMaxilloFacial Radiology recognizes that dentists receive training in two-dimensional dental imaging as undergraduates, but most of them have received little or no training in the application and interpretation of cross-sectional three-dimensional imaging. This document identifies the roles of dentists involved in the use of CBCT, examines the training requirements for the justification, acquisition and interpretation of CBCT imaging and makes recommendations for further training of dentists in Europe who intend to be involved in any aspect of CBCT imaging. Two levels of training are recognized. Level 1 is intended to train dentists who prescribe CBCT imaging, such that they may request appropriately and understand the resultant reported images. Level 2 is intended to train to a more advanced level and covers the understanding and skills needed to justify, carry out and interpret a CBCT examination. These recommendations are not intended to create specialists in CBCT imaging but to offer guidance on the training of all dentists to enable the safe use of CBCT in the dentoalveolar region.
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