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- Kjellström, Ulrika, et al.
(författare)
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Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
- 2021
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Ingår i: Ophthalmic Genetics. - : Informa UK Limited. - 1381-6810 .- 1744-5094. ; 42:2, s. 161-169
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Tidskriftsartikel (refereegranskat)abstract
- Background: Stickler syndrome is a hereditary disorder of collagen tissues causing ocular, auditory, orofacial, and joint manifestations. Ocular findings typically include vitreous degeneration, high myopia, retinal detachment, and cataract. Many subjects demonstrate sensorineural or conductive hearing loss. The inheritance is autosomal dominant with mutations in COL2A1, COL11A1, or COL11A2 or autosomal recessive due to mutations in COL9A1, COL9A2, or COL9A3. We describe a family with Stickler syndrome caused by homozygous loss-of-function mutations in COL9A2. Methods: Two brothers from a consanguineous family were examined with genetic testing, visual acuity, Goldmann perimetry, full-field and multifocal electroretinography (ffERG, mERG), optical coherence tomography (OCT), fundus autofluorescence (FAF), fundus photography, and pure-tone audiograms. Results: Both subjects were homozygous for the mutation c.1332del in COL9A2. Their parents were heterozygous for the same mutation. The boys demonstrated reduced visual acuity, vitreous changes and myopia. The proband was operated for retinal detachment and cataract in one eye. FfERG revealed reduced function of both rods and cones and mERG showed reduced macular function. No morphological macular changes were found by OCT or FAF. Both brothers have severe sensorineural hearing loss with down-sloping audiograms but only subtle midface hypoplasia and no, or mild joint problems. Conclusion: Only a few families with Stickler syndrome caused by COL9A2 mutations have been reported. We confirm previous descriptions with a severe ocular and auditory phenotype but mild orofacial and joint manifestations. Moreover, we demonstrate reduced macular and overall retinal function explaining the reduced visual acuity in patients with Stickler syndrome also without retinal complications.
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- Lövgren, Tanja, et al.
(författare)
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Complete and long-lasting clinical responses in immune checkpoint inhibitor-resistant, metastasized melanoma treated with adoptive T cell transfer combined with DC vaccination
- 2020
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Ingår i: Oncoimmunology. - : TAYLOR & FRANCIS INC. - 2162-4011 .- 2162-402X. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Development of T cell-directed immune checkpoint inhibitors (ICI) has revolutionized metastatic melanoma (MM) therapy, but <50% of treated patients experience durable responses. This phase I trial (NCT01946373) investigates the safety/feasibility of tumor-infiltrating lymphocyte (TIL) adoptive cell therapy (ACT) combined with dendritic cell (DC) vaccination in MM patients progressing on ICI. An initial cohort (5 patients) received TIL therapy alone to evaluate safety and allow for optimization of TIL expansion protocols. A second cohort (first-in-man, 5 patients) received TIL combined with autologous tumor lysate-loaded DC vaccination. All patients received cyclophosphamide/fludarabine preconditioning prior to, and intravenous (i.v.) IL-2 after, TIL transfer. The DC vaccine was given as five intradermal injections after TIL and IL-2 administration. [F-18]-FDG PET/CT radiology was performed to evaluate clinical response, according to RECIST 1.1 (on the CT part). Immunological monitoring was performed by flow cytometry and T-cell receptor (TCR) sequencing. In the safety/optimization cohort, all patients had a mixed response or stable disease, but none durable. In the combination cohort, two patients experienced complete responses (CR) that are still ongoing (>36 and >18 months, respectively). In addition, two patients had partial responses (PR), one still ongoing (>42 months) with only a small bone-lesion remaining, and one of short duration (<4 months). One patient died early during treatment and did not receive DC. Long-lasting persistency of the injected TILs was demonstrated in blood. In summary, we report clinical responses by TIL therapy combined with DC vaccination in 4 out of 4 treated MM patients who previously failed ICI.
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- Ribé, Veronica, et al.
(författare)
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Applying the Triad method in a risk assessment of a former surface treatment and metal industry site
- 2012
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Ingår i: Journal of Hazardous Materials. - : Elsevier. - 0304-3894 .- 1873-3336. ; 207:SI, s. 15-20
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Tidskriftsartikel (refereegranskat)abstract
- With a greater focus on soil protection in the EU, the need for ecological risk assessment tools for cost-effective characterization of site contamination is increasing. One of the challenges in assessing the risk of soil contaminants is to accurately account for changes in mobility of contaminants over time, as a result of ageing. Improved tools for measuring the bioavailable and mobile fraction of contaminants is therefore highly desirable. In this study the Triad method was used to perform a risk characterization of a former surface treatment and metal industry in Eskilstuna, Sweden. The risk assessment confirmed the environmental risk of the most heavily contaminated sample and showed that the toxic effect was most likely caused by high metal concentrations. The assessment of the two soil samples with low to moderate metal contamination levels was more complex, as there was a higher deviation between the results from the three lines of evidence; chemistry, (eco)toxicology and ecology. For the slightly less contaminated sample of the two, a weighting of the results from the ecotoxicological LoE would be recommended in order to accurately determine the risk of the metal contamination at the sampling site as the toxic effect detected in the Microtox® test and Ostracodtoxkit™ test was more likely to be due to oil contamination. The soil sample with higher total metal concentrations requires further ecotoxicological testing, as the integrated risk value indicated an environmental risk from metal contamination. The applied methodology, the Triad method, is considered appropriate for conducting improved environmental risk assessments in order to achieve sustainable remediation processes.
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- Ribé, Veronica, et al.
(författare)
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RISK CHARACTERISATION OF A FORMER SURFACE TREATMENT AND METAL INDUSTRY SITE USING THE TRIAD METHOD
- 2010
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Ingår i: Crete 2010, 2nd International Conference, Hazardous and Industrial Waste Management, Proceedings. ; , s. 451-452
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Konferensbidrag (refereegranskat)abstract
- With a greater focus on soil protection in the EU, in combination with the ever-growing pressures of redevelopment of contaminated and former brownfield sites, the need for ecological risk assessment tools for cost-effective characterization of site contamination is increasing. One of the greatest challenges in assessing the actual risk of soil contaminants is to accurately account for the reduced or increased mobility of contaminants over time, as a result of bioavailability. Improved tools for measuring the bioavailable and mobile fraction of the contaminants, as opposed to total concentrations, is therefore highly desirable. In this study the triad method was used to perform a risk characterization of a former surface treatment and metal industry, now used for the student union buildings of the Mälardalen University in Eskilstuna, Sweden. The risk assessment with the TRIAD method confirmed the environmental risk of sample D and showed that the toxicity of the sample was most likely caused by the high metal concentrations in the soil. The risk assessment of sample B and C was more complex, as there was a higher deviation between the results from the chemical analyses, ecotoxicological bioassays and the ecological inventory for these two samples. Further ecotoxicological bioassays are therefore suggested, in order to accurately determine the risk and potential remediation requirements of these soils.
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