| 1. |
- Björkman, Kristoffer, et al.
(författare)
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Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
- 2022
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Ingår i: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Objective: To add to our knowledge of the clinical spectrum of patients with single large-scale mitochondrial DNA (mtDNA) deletion and childhood onset anemia. Methods: Retrospective collection of clinical data from medical records for patients, both living and deceased, with a single large-scale mtDNA deletion from seven mitochondrial disease centers in five countries. Statistical analysis with descriptive methods and Kaplan-Meier survival analysis. Results: Seventeen patients matching the genetic criterium and with anemia onset before six years of age. Exocrine pancreatic insufficiency was only seen in five patients in this group. Multiple organs were involved in all patients, with the most common non-hematologic ones being skeletal muscle, central nervous system, endocrine, eyes, gastrointestinal system, kidneys, hearing, liver and heart. Psychomotor retardation was seen in ten patients, hearing impairment in nine patients, failure to thrive in eight patients. Eight later developed Kearns-Sayre syndrome. Eleven patients were deceased, with a median age at death of 7.5 years. Conclusions: The classically described phenotype of patients with large-scale mtDNA deletions and early onset anemia is Pearson marrow-pancreas syndrome, characterized by sideroblastic anemia and exocrine pancreas dysfunction. Only a minority of our patients fulfill the original criteria of Pearson syndrome though. Involvement of other organs than the pancreas is more common. The clinical course vary, but multi-system impact is the rule and life-expectancy is low. Early onset anemia in patients with large-scale mtDNA deletions is most frequently not associated with exocrine pancreas dysfunction. Better knowledge of the phenotype is helpful for diagnosis and more accurate prognosis.
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| 2. |
- Wahlqvist, Moa, 1979-, et al.
(författare)
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Physical and Psychological Health, Social Trust and Financial Situation for persons with Usher syndrome type 1
- 2016
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Ingår i: The British Journal of Visual Impairment. - London, United Kingdom : Sage Publications. - 0264-6196 .- 1744-5809. ; 34:1, s. 15-25
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Tidskriftsartikel (refereegranskat)abstract
- The article describes physical health, psychological health, social trust, and financial situation in persons with deafblindness due to Usher syndrome type 1 (USH1) in comparison with a cross-section of the Swedish population. Persons with USH1 were recruited through the Swedish Usher database. Totally, 87 adults received the Health on Equal Terms (HET) questionnaire. The HET was adjusted, thus the questions were translated into Swedish sign language, and a large font size, better contrast, and a structure compatible with the Braille script reader were also provided. The questionnaire comprises a wide range of domains related to health and wellbeing. In all, 60 persons responded (60% women, mean age: 49 years, range: 21-79 years). The persons with USH1 were compared to a cross section of the Swedish population that included 5738 individuals (56% women, mean age: 49 years, range: 16-84 years). Significant differences in physical health, psychological health, social trust, and financial situation as well as the odds ratio adjusted for sex and age, and its 95% confidence interval are reported. The psychological health, social trust, and financial situation of persons with USH1 were significantly poorer compared to the reference group although this was not the case for physical health. Persons with USH1 only expressed significantly more problems with headache compared to the cross section of the Swedish population. The respondents revealed major problems with fatigue, loss of confidence, and suicide thoughts and attempts. Major social trust and financial problems were reported in terms of refraining going out alone, not receiving help, having no one with whom to share thoughts, and confide in and being unable to obtain 15.000 SEK (approximately US$1.724 or (sic)1.544) in the case of an unforeseen situation. To identify factors associated with physical health, psychological health, social trust, and financial situation is important in the design of future rehabilitation strategies for persons with USH1. The high level of psychological distress and lack of social trust reported could be related to ontological insecurity, as well as lack of recognition from others. Special attention must be devoted to suicide behavior.
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| 3. |
- Magnusson, Gunilla, 1968, et al.
(författare)
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Evaluation of screening procedures for congenital cataracts.
- 2003
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Ingår i: Acta paediatrica (Oslo, Norway : 1992). - : Wiley. - 0803-5253 .- 1651-2227. ; 92:12, s. 1468-73
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To evaluate the efficacy of two different Swedish screening procedures for early detection of congenital cataracts in comparison with no screening. METHODS: Children born between January 1992 and December 1998 in Swedish regions with an established eye-screening routine procedure, diagnosed with congenital cataract, and operated on before 1 y of age, were included in a retrospective study. Age at referral and age at time of the operation were compared between regions using different screening procedures: screening in the maternity wards (Region 1), at the well-baby clinics (Region 2) and one region without any screening (Region 3). RESULTS: Seventy-two children were included in the study. Concerning early diagnosis and surgery, Region 1 differed significantly from Regions 2 and 3, which were more similar and were combined for further analysis. The difference in detected cases was greatest at 21 d of age (55% vs 18%; p < 0.001), but persisted even at 100 d of age (78% vs 64%; p < 0.02). Region 1 screening resulted in more and earlier cases detected than the other two regions (22 vs 15 per 100,000 births). In 72% of all cases, surgery was performed in response to referrals from either the maternity wards (36%), or the well-baby clinics (36%). However, half of the cases from the well-baby clinics were detected too late, i.e. at > 100 d. CONCLUSION: Eye screening in the maternity ward is preferable to well-baby clinic screening and to no screening at all, since it leads to early detection. Screening should also be performed routinely at well-baby clinics within the period when successful treatment is possible.
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| 4. |
- Wittich, Walter, et al.
(författare)
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Device abandonment in deafblindness : a scoping review of the intersection of functionality and usability through the International Classification of Functioning, Disability and Health lens
- 2021
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 11:1
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Forskningsöversikt (refereegranskat)abstract
- OBJECTIVES: Abandonment of vision, hearing or mobility aids suggests common barriers and facilitators to ongoing device use. However, the possible interactive effects of combined hearing and vision disabilities on device use by those living with deafblindness are unclear. Here we summarise existing knowledge on variables influencing assistive technology use from the perspective of persons living with deafblindness. We used the WHO's International Classification of Functioning, Disability and Health (ICF) framework to contextualise the findings, asking 'What is currently known about variables influencing the (non-)use of assistive devices recommended for persons with deafblindness?'DESIGN: A scoping review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews Checklist.DATA SOURCES: PubMed; ProQuest: ERIC; ProQuest Dissertation; ProQuest: Sociological Thesaurus; Web of Science; Scientific Electronic Library Online; Bielefeld Academic Search Engine; Pascal & Francis; APA PsycINFO and Ebsco for CINAHL were searched through 9 November 2020.ELIGIBILITY CRITERIA: We included peer-reviewed studies that reported on assistive technology, device abandonment/utilisation and provided data from persons living with deafblindness.DATA EXTRACTION AND SYNTHESIS: Four team members independently scored 83 studies for eligibility.RESULTS: Ten articles were chosen for data extraction. The emerging variables replicated established categories of barriers and facilitators: personal, device-related, environmental and intervention variables. The use of the ICF highlighted how an intermediate variable (eg, device acceptability) was necessary in order for a variable to become a barrier or a facilitator to device use.CONCLUSIONS: The variables influencing device use by persons with deafblindness followed the same categories described for single impairments. Usability was challenged in devices that rely on the 'other' sense. Haptic and tactile aids are rarely studied. The limited available information and the dire need for assistive technologies for people with deafblindness emphasises the urgency of research and technology development for this marginalised population.
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| 5. |
- 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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| 6. |
- Magnusson, Marie, et al.
(författare)
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A placebo-controlled study of retinal blood flow changes by pentoxifylline and metabolites in humans
- 2006
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Ingår i: British Journal of Clinical Pharmacology. - : Wiley. - 0306-5251 .- 1365-2125. ; 61:2, s. 138-147
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To investigate the possible effects of pentoxifylline metabolites on retinal blood flow in humans. METHODS: A randomized, placebo-controlled, four-period cross-over study that was observer blinded and partly blinded for the eight participants. On one occasion a placebo was given as an intravenous (i.v.) infusion over 100 min. On the other three occasions pentoxifylline was administered as i.v. infusions over 100 min at a rate of 3 mg min(-1). Before two of the pentoxifylline infusions the subjects were pretreated with either ciprofloxacin or rifampicin. Retinal blood flow was measured by scanning laser doppler flowmetry (SLDF) in a selected area of the central temporal retina before, during and until 5 h after the end of infusion. Blood samples for concentration analyses of pentoxifyllin, R-M1, S-M1, M4 and M5 were taken serially and areas under the curves (AUCs) were calculated. Linear mixed models were used for the statistical analyses. RESULTS: Mean AUCs (ng h ml(-1)) were significantly increased for pentoxifylline (1964 vs. 1453) and S-M1 (5804 vs. 4227), but not R-M1 when pentoxifylline was co-administered with ciprofloxacin. The mean AUC for M5 was significantly reduced when subjects were pretreated with rifampicin (2041 vs. 3080). Pentoxifylline with and without pretreatment with rifampicin significantly increased retinal blood flow assessed as mean flow, pulsation (i.e. 1-systole/diastole), and diastolic flow (but not during systole), compared with placebo. The increases over placebo were more pronounced on diastolic flow, 9.7% (95% confidence interval 4.2, 15.5) than on mean flow, 4.6% (1.1, 8.3) after pentoxifylline administration. With pentoxifylline after rifampicin pretreatment the corresponding differences were 11.7% (5.8, 17.9) and 5.1% (1.4, 7.8) over placebo, respectively. After co-administration of pentoxifylline and ciprofloxacin we saw only a nonsignificant trend towards increased flow during diastole, but a significant decrease in pulsation. When AUCs for pentoxifylline and its metabolites were used as regressor variables to retinal mean flow we found that pentoxifylline, R-M1 and M5 had coefficients with a positive sign indicating that they enhanced the retinal blood flow. In contrast, S-M1 and M4 had coefficients with negative sign and thus appeared to decrease the blood flow in subjects treated with pentoxifylline. CONCLUSION: The R-M1 and M5 metabolites of pentoxifylline contributed significantly to the effects of pentoxifylline on retinal blood flow.
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| 7. |
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| 8. |
- Potter, Ryan, et al.
(författare)
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Identification of biomarker candidates for exfoliative glaucoma from autoimmunity profiling
- 2024
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Ingår i: BMC Ophthalmology. - : BioMed Central (BMC). - 1471-2415. ; 24:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Exfoliative glaucoma (XFG) is a subtype of open-angle glaucoma characterized by distinctive extracellular fibrils and a yet unknown pathogenesis potentially involving immune-related factors. The aim of this exploratory study was to identify biomarkers for XFG using data from autoimmunity profiling performed on blood samples from a Scandinavian cohort of patients. Methods: Autoantibody screening was analyzed against 258 different protein fragments in blood samples taken from 30 patients diagnosed with XFG and 30 healthy donors. The 258 protein fragments were selected based on a preliminary study performed on 3072 randomly selected antigens and antigens associated with the eye. The “limma” package was used to perform moderated t-tests on the proteomic data to identify differentially expressed reactivity between the groups. Results: Multiple associated genes were highlighted as possible biomarker candidates including FUT2, CDH5, and the LOX family genes. Using seven variables, our binary logistic regression model was able to classify the cases from the controls with an AUC of 0.85, and our reduced model using only one variable corresponding to the FUT2 gene provided an AUC of 0.75, based on LOOCV. Furthermore, over-representation gene analysis was performed to identify pathways that were associated with antigens differentially bound to self-antibodies. This highlighted the enrichment of pathways related to collagen fibril formation and the regulatory molecules mir-3176 and mir-876-5p. Conclusions: This study suggests several potential biomarkers that may be useful in developing further models of the pathology of XFG. In particular, CDH5, FUT2, and the LOX family seem to have a relationship which merits additional exploration.
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| 9. |
- Emsfors, Åsa, et al.
(författare)
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Nursing actions that create a sense of good nursing care in patients with wet age-related macular degeneration
- 2017
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Ingår i: Journal of Clinical Nursing. - : John Wiley & Sons. - 0962-1067 .- 1365-2702. ; 26:17-18, s. 2680-2688
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Tidskriftsartikel (refereegranskat)abstract
- AIMS AND OBJECTIVES: To identify and describe nursing actions performed by nurses that create a sense of good nursing care in patients with wet age-related macular degeneration.BACKGROUND: People who suffer from wet age-related macular degeneration risk central vision loss. Treatment with antivascular endothelial growth factor is the only available option at present that preserves vision and no definitive cure currently exists. Patients feel that they are compelled to accept this treatment because they might otherwise become blind.DESIGN: An explorative and descriptive design based on the critical incident technique was used.METHOD: Interviews with 16 Swedish patients who all had received intravitreal treatment for wet age-related macular degeneration.RESULTS: Two main areas of good nursing care were identified: 'Being perceived as an individual' and 'Being empowered'. The first area was divided into two categories: being respectful and being engaged. Being respectful was observed when nurses had a benevolent attitude towards their patients and answered questions kindly and politely. Patients saw themselves as individuals when nurses were available for conversation and focused on them. The second area was divided into two categories: encouraging participation and creating confidence. Encouraging participation refers to when nurses provided information continuously. Nurses instilled confidence and trust in their patients by keeping promises and by being honest.CONCLUSIONS: A respectful interaction between patients and caregivers is necessary for patients to obtain beneficial health care.RELEVANCE TO CLINICAL PRACTICE: Patient interviews revealed important information about nursing actions that created a sense of good nursing care in patients with wet age-related macular degeneration. Nurses acknowledged people as individuals and created trust by building partnerships and sharing decision-making. To address each patient's concerns, nurses need to prioritise each patient's narrative and participation by documenting agreements in their medical record.
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| 10. |
- Aring, Eva, 1959, et al.
(författare)
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The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders
- 2021
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Ingår i: Bmj Open Ophthalmology. - : BMJ. - 2397-3269. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- Objective To create an easy-to-use complementary ophthalmological tool to support a fetal alcohol spectrum disorder (FASD) diagnosis. Methods and Analysis The FASD Eye Code was derived from 37 children with FASD evaluated along with 65 healthy age-matched and sex-matched controls. Four ophthalmological categories, which are abnormalities commonly found in children with FASD, were ranked independently on a 4-point scale, with 1 reflecting normal finding and 4 a strong presence of an abnormality: visual acuity, refraction, strabismus/binocular function and ocular structural abnormalities. The tool was validated on 33 children with attention deficit/hyperactivity disorder (ADHD), 57 children born moderate-to-late premature (MLP) and 16 children with Silver-Russell syndrome (SRS). Among children with ADHD none was born prematurely or small for gestational age (SGA) or diagnosed with FASD. Among children born MLP none was SGA, had a diagnosis of ADHD or FASD, or a history of retinopathy of prematurity. Children with SRS were all born SGA, half were born preterm and none had FASD. Children with FASD were re-examined as young adults. Results An FASD Eye Code cut-off total score of >= 10 showed an area under the curve (AUC) of 0.78 (95% CI 0.69 to 0.87), with 94% specificity and 43% sensitivity, in discriminating between FASD and controls, MLP and ADHD, corresponding to a positive likelihood ratio (LR+) of 7.5. Between FASD and controls, an AUC of 0.87 (CI 0.80 to 0.95), with 100% specificity and 43% sensitivity, was found; between FASD and SRS, an AUC of 0.60 (CI 0.45 to 0.75) was found, with 88% specificity and 43% sensitivity. A cut-off score of >= 9 showed a specificity of 98% and a sensitivity of 57% for FASD versus controls, corresponding to an LR+ of 36.9. Scores in individuals with FASD were stable into young adulthood. Conclusion The FASD Eye Code has the potential to serve as a complementary tool and help to strengthen an FASD diagnosis.
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| 11. |
- Dahlin-Ivanoff, Synneve, 1950
(författare)
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Development and evaluation of a health education programme for elderly persons with age-related macular degeneration
- 2000
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- The overall aim of this thesis was to develop and evaluate a health education programme for elderly persons with age-related macular degeneration (AMD). I. In order to plan the programme focus group methodology was used with the aim to learn how persons with the diagnosis AMD perceived and described their disease and how the disease had changed their daily occupations. The participants perceived insecurity in performing daily occupations. They used a number of strategies to continue to perform daily occupations. The participants expressed uncertainty about and a desire to know more about the disease and its consequences both at micro and macro level.II. A cross-sectional population study was performed with the purpose of describing disability in activities of daily living and its relation to visual impairment, focusing on AMD. Especially people with AMD were found to be more dependent on help in both personal and instrumental activities of daily living. The proportion of participants with disability in ADL and the relative risk of developing ADL dependence increased with the decrease in visual acuity (VA). The relationship between ADL and VA was, however, weak, implying that people adapt to the consequences of the disease, though to different degrees. III. Focus group methodology was used to improve the programme. The results indicated that the participants were, on the whole, pleased with the content of the programme, but they did not understand all the information provided. Social support, regained hope and meeting others with the same disease were reported as positive aspects of the programme. The role of the group leader and the composition of the groups were considered important. Several suggestions for improving the programme were put forward.IV. A non-parametric statistical method was used to develop an evaluative instrument that could measure and detect (in)security as an early signs of occupational dysfunction. The study showed that the instrument had a high level of test-retest stability and was responsive. V. A randomised study showed that the programme was effective as the participants in the health education programme developed a significantly higher level of security, according to the instrument developed in study IV, than found in the individual intervention group. The health education programme slow down the progression of decline in daily occupation
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| 12. |
- Strömland, Kerstin, 1934, et al.
(författare)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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Ingår i: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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Tidskriftsartikel (refereegranskat)abstract
- Swedish patients with the oculo-auriculo-vertebral (OAV) spectrum participated in a prospective multidisciplinary investigation. The aims of the study were to describe their systemic and functional defects, especially autism spectrum disorders, and to search for possible etiologic risk factors. Available medical records were studied and the mothers answered a questionnaire on history of prenatal events. A clinical examination evaluating systemic findings, vision, hearing, speech, oral and swallowing function, and neuropsychiatric function, especially autism, was made. Eighteen patients, (11 males, 7 females) aged 8 months to 17 years with OAV were studied. Most frequent systemic malformations included, ear abnormalities (100%), ocular malformations (72%), vertebral deformities (67%), cerebral anomalies (50%), and congenital heart defects (33%). Functional defects consisted of hearing impairment (83%), visual impairment (28%), both visual and hearing impairment (28%), difficulties in feeding/eating (50%), speech (53%), mental retardation (39%), and severe autistic symptoms (11%). Three children were born following assisted fertilization (two intracytoplasmatic sperm injection, one in vitro fertilization), two mothers reported early bleedings, and six (33%) mothers had smoked during pregnancy.
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| 13. |
- Zetterlund, Christina, et al.
(författare)
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The relationship between low vision and musculoskeletal complaints : a case control study between age-related macular degeneration patients and age-matched controls with normal vision
- 2009
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Ingår i: Journal of optometry. - Barcelona : Elsevier BV. - 1989-1342 .- 1888-4296. ; 2:3, s. 127-133
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Age-related Macular Degeneration (ARMD) patients often describe complaints from neck and scapula area muscles and a decreased postural control. In clinical assessment, these complaints are considered to be due to old age.PURPOSE: This study focuses on low-vision patients with ARMD, comparing them to age-matched controls without any eye disease, in order to evaluate if the linkage between self-rated visual complaints and musculoskeletal complaints is more prominent when low vision is present.METHODS: In a cross-sectional study, 24 ARMD patients, aged 65 to 85, were compared to a group of 24 controls without visual problems having a similar age distribution. Visual acuity, the need for magnification plus other optical and visual parameters were assessed. Visual, musculoskeletal and balance/proprioceptive complaints were collected by means of a self-rating questionnaire. The Visual Functioning Questionnaire - Near Activities Subscale (VFQ–NAS) was used to evaluate visual function and related complaints.RESULTS: The correlation between visual complaints and musculoskeletal complaints yielded significant values of the correlation coefficient when performed separately within each group, as well as when calculated on the entire data set [ARMD, Spearman’s rho (ρ)=0.60, P=0.002; control group ρ=0.59, P=0.004; both groups together ρ=0.50 P<0.001]. Stepwise multiple regression analysis supported the hypothesized effect of vision (Visual complaints + Minimum readable typefaces) on musculoskeletal complaints, (r2=0.42, P<0.05). CONCLUSIONS: The results in this study support the hypothesis that a relationship exists between visual and musculoskeletal problems.
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| 14. |
- Thaung, Jörgen, 1965, et al.
(författare)
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Dual-conjugate adaptive optics for wide-field high-resolution retinal imaging.
- 2009
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Ingår i: Optics express. - 1094-4087. ; 17:6, s. 4454-67
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Tidskriftsartikel (refereegranskat)abstract
- We present analysis and preliminary laboratory testing of a real-time dual-conjugate adaptive optics (DCAO) instrument for ophthalmology that will enable wide-field high resolution imaging of the retina in vivo. The setup comprises five retinal guide stars (GS) and two deformable mirrors (DM), one conjugate to the pupil and one conjugate to a plane close to the retina. The DCAO instrument has a closed-loop wavefront sensing wavelength of 834 nm and an imaging wavelength of 575 nm. It incorporates an array of collimator lenses to spatially filter the light from all guide stars using one adjustable iris, and images the Hartmann patterns of multiple reference sources on a single detector. Zemax simulations were performed at 834 nm and 575 nm with the Navarro 99 and the Liou- Brennan eye models. Two correction alternatives were evaluated; conventional single conjugate AO (SCAO, using one GS and a pupil DM) and DCAO (using multiple GS and two DM). Zemax simulations at 575 nm based on the Navarro 99 eye model show that the diameter of the corrected field of view for diffraction-limited imaging (Strehl >or= 0.8) increases from 1.5 deg with SCAO to 6.5 deg using DCAO. The increase for the less stringent condition of a wavefront error of 1 rad or less (Strehl >or= 0.37) is from 3 deg with SCAO to approximately 7.4 deg using DCAO. Corresponding results for the Liou-Brennan eye model are 3.1 deg (SCAO) and 8.2 deg (DCAO) for Strehl >or= 0.8, and 4.8 deg (SCAO) and 9.6 deg (DCAO) for Strehl >or= 0.37. Potential gain in corrected field of view with DCAO is confirmed both by laboratory experiments on a model eye and by preliminary in vivo imaging of a human eye.
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| 15. |
- Lagali, Neil, et al.
(författare)
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Dendritic cell maturation in the corneal epithelium with onset of type 2 diabetes is associated with tumor necrosis factor receptor superfamily member 9
- 2018
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Type 2 diabetes mellitus is characterized by a low-grade inflammation; however, mechanisms leading to this inflammation in specific tissues are not well understood. The eye can be affected by diabetes; thus, we hypothesized that inflammatory changes in the eye may parallel the inflammation that develops with diabetes. Here, we developed a non-invasive means to monitor the status of inflammatory dendritic cell (DC) subsets in the corneal epithelium as a potential biomarker for the onset of inflammation in type 2 diabetes. In an age-matched cohort of 81 individuals with normal and impaired glucose tolerance and type 2 diabetes, DCs were quantified from wide-area maps of the corneal epithelial sub-basal plexus, obtained using clinical in vivo confocal microscopy (IVCM). With the onset of diabetes, the proportion of mature, antigen-presenting DCs increased and became organized in clusters. Out of 92 plasma proteins analysed in the cohort, tumor necrosis factor receptor super family member 9 (TNFRSF9) was associated with the observed maturation of DCs from an immature to mature antigen-presenting phenotype. A low-grade ocular surface inflammation observed in this study, where resident immature dendritic cells are transformed into mature antigen-presenting cells in the corneal epithelium, is a process putatively associated with TNFRSF9 signalling and may occur early in the development of type 2 diabetes. IVCM enables this process to be monitored non-invasively in the eye.
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| 16. |
- Ayala, Marcelo, et al.
(författare)
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p53 expression and apoptosis in the lens after ultraviolet radiation exposure
- 2007
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Ingår i: Investigative Ophthalmology and Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 48:9, s. 4187-4191
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To localize p53 protein and active caspase-3 in the albino rat lens and to compare p53 mRNA and active caspase-3 expression in ultraviolet radiation (UVR) 300 nm exposed lenses and their contralateral nonexposed controls. METHODS: Ten Sprague-Dawley albino rats were unilaterally exposed to 8 kJ/m(2) UVR, and the contralateral eyes were left nonexposed. In total, four exposed lenses and their respective contralateral nonexposed lenses were analyzed by immunohistochemistry to localize p53 and active caspase-3. In addition, six exposed and contralateral nonexposed lenses were analyzed by real-time RT-PCR. Quantified p53 and caspase-3 expression were compared between the in vivo UVR 300 nm exposed lenses and the contralateral nonexposed lenses. RESULTS: All lenses exposed to UVR developed cataract. Immunohistochemistry showed that p53 and active caspase-3 were localized in the lens epithelial cells. Quantified p53 and caspase-3 expression were significantly higher in lenses exposed to UVR than in nonexposed lenses. CONCLUSIONS: p53 and caspase-3 expression increase in lens epithelial cells after UVR exposure. In the lens, apoptosis induced by UVR may be associated with increased p53 expression.
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| 17. |
- Pivodic, Aldina, 1978, et al.
(författare)
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Evaluation of the Retinopathy of Prematurity Activity Scale (ROP-ActS) in a randomised controlled trial aiming for prevention of severe ROP: A substudy of the Mega Donna Mega trial
- 2022
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Ingår i: BMJ Open Ophthalmology. - : BMJ. - 2397-3269. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Objective The current grading of retinopathy of prematurity (ROP) does not sufficiently discriminate disease severity for evaluation of trial interventions. The published ROP Activity Scales (original: ROP-ActS and modified: mROP-ActS), describing increasing severity of ROP, versus the categorical variables severe ROP, stage, zone and plus disease were evaluated as discriminators of the effect of an ROP preventive treatment. Methods and analysis The Mega Donna Mega trial investigated ROP in infants born <28-week gestational age (GA), randomised to arachidonic acid (AA) and docosahexaenoic acid (DHA) supplementation or no supplementation. Of 207 infants, 86% with finalised ROP screening were included in this substudy. ROP-ActS versus standard variables were evaluated using Fisher's non-parametric permutation test, multivariable logistic and linear regression and marginal fractional response models. Results The AA:DHA group (n=84) and the control group (n=93) were well balanced. The maximum ROP-ActS measurement was numerically but not significantly lower in the AA:DHA group (mean: 4.0 (95% CI 2.9 to 5.0)) versus the control group (mean: 5.3 (95% CI 4.1 to 6.4)), p=0.11. In infants with any ROP, the corresponding scale measurements were 6.8 (95% CI 5.4 to 8.2) and 8.7 (95% CI 7.5 to 10.0), p=0.039. Longitudinal profiles of the scale were visually distinguished for the categories of sex and GA for the intervention versus control. Conclusions The preventive effect of AA:DHA supplementation versus no supplementation was better discriminated by the trial's primary outcome, severe ROP, than by ROP-ActS. The sensitivity and the linear qualities of ROP-ActS require further validations on large data sets and perhaps modifications. Trial registration number NCT03201588.
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| 18. |
- Englund Johansson, Ulrica, et al.
(författare)
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Human neural progenitor cells promote photoreceptor survival in retinal explants
- 2010
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Ingår i: Experimental Eye Research. - : Elsevier BV. - 0014-4835 .- 1096-0007. ; 90:2, s. 292-299
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Tidskriftsartikel (refereegranskat)abstract
- Different types of progenitor and stem cells have been shown to provide neuroprotection in animal models of photoreceptor degeneration. The present study was conducted to investigate whether human neural progenitor cells (HNPCs) have neuroprotective properties on retinal explants models with calpain- and caspase-3-dependent photoreceptor cell death. In the first experiments, HNPCs in a feeder layer were co-cultured for 6 days either with postnatal rd1 mouse or normal rat retinas. Retinal histological sections were used to determine outer nuclear layer (ONL) thickness, and to detect the number of photoreceptors with labeling for calpain activity, cleaved caspase-3 and TUNEL The ONL thickness of co-cultured rat and rd1 retinas was found to be almost 10% and 40% thicker, respectively, compared to controls. Cell counts of calpain activity, cleaved caspase-3 and TUNEL labeled photoreceptors in both models revealed a 30-50% decrease when co-cultured with HNPCs. The results represent significant increases of photoreceptor survival in the co-cultured retinas. In the second experiments, for an identification of putative survival factors, or a combination of them, a growth factor profile was performed on conditioned medium. The relative levels of various growth factors were analyzed by densitometric measurements of growth factor array membranes. Following growth factors were identified as most potential survival factors: granulocyte colony stimulating factor (G-CSF), granulocyte-macrophage colony stimulating factor (GMCSF), insulin-like growth factor 11 (IGF-II), neurotrophic factor 3 (NT-3), placental growth factor (PIGF), transforming growth factors (TGF-beta 1 and TGF-beta 2) and vascular endothelial growth factor (VEGF-D). HNPCs protect both against calpain- and caspase-3-dependent photoreceptor cell death in the rd1 mouse and against caspase-3-dependent photoreceptor cell death in normal rat retinas in vitro. The protective effect is possibly achieved by a variety of growth factors secreted from the HNPCs. (C) 2009 Elsevier Ltd. All rights reserved.
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| 19. |
- Dahlin-Ivanoff, Synneve, 1950, et al.
(författare)
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Development of a health education programme for elderly with age-related macular degeneration: a focus group study.
- 1998
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Ingår i: Patient education and counseling. - 0738-3991. ; 34:1, s. 63-73
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Tidskriftsartikel (refereegranskat)abstract
- Age-related macular degeneration is a serious public health problem, and in most cases no cure exists. One available intervention is low vision rehabilitation, and there is a lack of programmes for the elderly. The purpose of this paper is to present the results of an evaluation of a group-based health education programme. This programme comprised six to eight 2-3 hour meetings, once a week, for persons with age-related macular degeneration. Each group consisted of four to six participants. The goal of the programme, which has its roots in the health belief model, was to sustain and restore the participants' performance of their daily activities. The tool used for process evaluation was focus group methodology, and eight focus groups were involved. Forty five persons, whose average age was 80 years, took part in the evaluation. The results indicated that the participants were, on the whole, pleased with the content of the programme. There were, however, some indications that they did not understand all the information provided. Social support, regained hope and meeting others with the same disease were reported as positive aspects of the health education programme. The importance of the group leader's role in guiding this health education programme was emphasised. Furthermore, with regard to the composition of the groups, the participants pointed out that it was important to consider variation in visual acuity, so as to provide different models for comparison, and whether both sexes should participate in all groups. Finally, several suggestions for improving the programme are put forward.
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| 20. |
- Huang, X. F., et al.
(författare)
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Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci
- 2020
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Ingår i: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 61:6
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE. Acute anterior uveitis (AAU) is a common intraocular inflammatory disease. AAU occurs in 30% to 50% of patients with ankylosing spondylitis (AS), and both conditions are strongly associated with human leukocyte antigen (HLA)-B 27 , implying a shared etiology. This study aims to apply genomewide association study (GWAS) to characterize the genetic associations of AAU and their relationship to the genetics of AS. METHODS. We undertook the GWAS analyses in 2752 patients with AS with AAU (cases) and 3836 patients with AS without AAU (controls). There were 7,436,415 single-nucleotide polymorphisms (SNPs) available alter SNP microarray genotyping, imputation, and quality-control filtering. RESULTS. We identified one locus associated with AAU at genomewide significance: rs9378248 (P = 2.69 x 10(-8), odds ratio [OR] = 0.78), lying close to HLA-B. Suggestive association was observed at 11 additional loci, including previously reported AS loci ERAP1 (rs27529, P = 2.19 x 10(-7), OR = 1.22) and NOS2 (rs2274894, P = 8.22 x 10(-7), OR = 0.83). Multiple novel suggestive associations were also identified, including MERTK (rsl0171979, P = 2.56 x 10(-6), OR = 1.20), KIFAP3 (rs508063, P = 5.64 x 10(-7), OR = 1.20), CLCN7 (rs67412457, P = 1.33 x 10(-6), OR = 1.25), ACAA2 (rs9947182, P = 9.70 x 10(-7), OR = 1.37), and 5 intergenic loci. The SNP-based heritability is approximately 0.5 for AS alone, and is much higher (approximately 0.7) for AS with AAU. Consistent with the high heritability, a genomewide polygenic risk score shows strong power in identifying individuals at high risk of either AS with AAU or AS alone. CONCLUSIONS. We report here the first GWAS for AAU and identify new susceptibility loci. Our findings confirm the strong overlap in etiopathogenesis of AAU with AS, and also provide new insights into the genetic basis of AAU.
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| 21. |
- Holmström, Gerd E, et al.
(författare)
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Ophthalmologic Outcome at 30 Months Corrected Age of a Prospective Swedish Cohort of Children Born Before 27 Weeks of Gestation The Extremely Preterm Infants in Sweden Study
- 2014
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Ingår i: JAMA OPHTHALMOLOGY. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 132:2, s. 182-189
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Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE Follow-up at 30 months corrected age reveals eye and visual problems in one-third of children born extremely prematurely (less than27 weeks gestation). OBJECTIVE To investigate the ophthalmologic outcome of extremely preterm children at 30 months corrected age. DESIGN, SETTING, AND PARTICIPANTS A prospective, population-based follow-up study (Extremely Preterm Infants in Sweden Study [EXPRESS]) was conducted in Sweden. The population included extremely preterm infants (less than27 weeks gestation) born in Sweden between 2004 and 2007, of whom 491 survived until age 2.5 years. Screening for retinopathy of prematurity (ROP) was performed in the neonatal period. At 30 months corrected age, an ophthalmologic assessment was performed in 411 of 491 children (83.7%). MAIN OUTCOMES AND MEASURES Visual acuity, manifest strabismus, and refractive errors were evaluated. RESULTS Visual impairment was identified in 3.1% of the children, and 1.0% were blind. Refractive errors, defined as myopia less than -3 diopters (D), hypermetropia greater than +3 D, astigmatism 2 D or more, and/or anisometropia 2 D or more, were found in 25.6% of the children, and 14.1% had manifest strabismus. There were significant associations between visual impairment and treated ROP (P = .02), cognitive disability (P less than .001), and birth weight (P = .02). Multiple regression analyses revealed significant associations between strabismus and treated ROP (P less than .001), cognitive disability (P less than .01), and cerebral palsy (P = .02). Refractive errors were significantly correlated with severity of ROP (right eye, P less than .001; left eye, P less than .01). Children who had been treated for ROP had the highest frequency (69.0%) of eye and visual abnormalities. CONCLUSIONS AND RELEVANCE One-third of the extremely prematurely born children in this study had some kind of eye or visual problems, such as visual impairment, strabismus, or major refractive error. Despite being born extremely preterm, the present cohort has a similar prevalence of blindness and visual impairment as in previous Swedish cohorts of children born less prematurely.
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| 22. |
- Johansson, Björn, et al.
(författare)
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Visual and optical performance of the Akreos Adapt Advanced Optics and Tecnis Z9000 intraocular lenses. Swedish multicenter study
- 2007
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Ingår i: Journal of cataract and refractive surgery. - : Ovid Technologies (Wolters Kluwer Health). - 0886-3350 .- 1873-4502. ; 33:9, s. 1565-1572
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To compare the subjective visual and objective optical performance of 2 aspherical intraocular lenses (lOLs), the Akreos Adapt Advanced Optics (AO) (Bausch & Lomb, Inc.) and the Tecnis Z9000 (Advanced Medical Optics, Inc.). SETTING: Four university hospitals in Sweden. METHODS: This study comprised 80 patients, 20 each from 4 university hospital centers in Sweden. All patients had bilateral clear corneal phacoemulsification with implantation of an Akreos Adapt AO IOL in 1 eye and Tecnis Z9000 IOL in the other eye according to a randomization protocol. Preoperatively, 90% contrast Early Treatment Diabetic Retinopathy Study (ETDRS) visual acuity was measured and the mesopic pupil sizes were determined. Ten to 12 weeks postoperatively, 12.5% and 90% contrast ETDRS visual acuities and photopic and mesopic Functional Acuity Contrast Test chart contrast sensitivities were determined. Wavefront analysis was performed with the Zywave II aberrometer (Bausch & Lomb, Inc.), and a questionnaire on the subjective quality of vision was completed by each patient. RESULTS: The Akreos AO IOL and Tecnis Z9000 IOL produced similar high- and low-contrast visual acuities as well as photopic and mesopic contrast sensitivities. The Tecnis Z9000 IOL resulted in lower spherical aberrations of the eye (mean 0.05 ± 0.13 μm versus 0.35 ± 0.13 μm root mean square, 6.0 mm pupil) (P<.001); however, the Akreos AO IOL provided a larger depth of field (mean 1.22 diopter [D] ± 0.48 [SD] versus 0.86 ± 0.50 D, 6.0 mm pupil) (P<.001). Patient satisfaction was generally high, although 68.8% of the patients reported some type of visual disturbance postoperatively. Twenty-eight percent of patients reported better subjective visual quality in the Akreos AO eye and 14%, in the Tecnis Z9000 eye (P<.0001). Accordingly, 33% perceived more visual disturbances in the Tecnis Z9000 eye and 11%, in the Akreos AO eye (P<.0001). CONCLUSIONS: Maximum reduction of spherical aberration did not maximize subjective visual quality. The higher perceived quality of vision with the Akreos AO IOL could be because of differences in depth of field, lOL material, or IOL design.
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| 23. |
- Källén, Karin, et al.
(författare)
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Ophthalmologic Outcome of Extremely Preterm Infants at 6.5 Years of Age Extremely Preterm Infants in Sweden Study (EXPRESS)
- 2016
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Ingår i: Jama Ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 134:5, s. 555-562
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Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE This follow-up study of extremely preterm (EPT) children (<27 weeks' gestational age [GA] at birth) revealed major eye and visual problems in 37.9%(147 of 388) of all EPT infants and in 55.4%(67 of 121) of the most immature subgroups at 6.5 years of age. These major eye and visual problems were strongly associated with treatment-requiring retinopathy of prematurity (ROP). OBJECTIVES To investigate the ophthalmologic outcome of a national cohort of EPT children at 6.5 years of age and to evaluate the impact of prematurity and ROP. DESIGN, SETTING, AND PARTICIPANTS All surviving EPT children born in Sweden between April 1, 2004, and March 31, 2007, were included and compared with a matched term control group, as part of a prospective national follow-up study. MAIN OUTCOMES AND MEASURES Visual acuity, refraction in cycloplegia, and manifest strabismus were evaluated and compared with GA at birth and with treatment-requiring ROP. RESULTS The study cohort comprised 486 participants. The mean (SD) GA of the children who were included was 25 (1) weeks, and 45.7%(222 of 486) were female. At a median age of 6.6 years, 89.3%(434 of 486) of eligible EPT children were assessed and compared with 300 control group children. In the EPT group, 2.1%(9 of 434) were blind, 4.8%(21 of 434) were visually impaired according to the World Health Organization criteria, and 8.8% (38 of 434) were visually impaired according to the study criteria. Strabismus was found in 17.4% (68 of 390) and refractive errors in 29.7%(115 of 387) of the EPT children compared with 0% (0 of 299) and 5.9% (17 of 289), respectively, of the control children (P<.001). Altogether at 6.5 years of age, 37.9%(147 of 388) of the EPT children had some ophthalmologic abnormality compared with 6.2%(18 of 290) of the matched control group (95% CI of the difference, 26.1%-37.2%). When treatment-requiring ROP was adjusted for, no significant association between GA and visual impairment could be detected. For refractive errors, the association with GA remained after adjustment for treatment-requiring ROP (odds ratio, 0.72; 95% CI, 0.58-0.91 for each 1-week increment). CONCLUSIONS AND RELEVANCE In a Swedish national cohort of EPT children at 6.5 years of age, major eye and visual problems were frequently found. Treatment-requiring ROP was a stronger impact factor than GA on visual impairment and strabismus, but not on refractive errors, as a whole. In modern neonatal intensive care settings, ophthalmologic problems continue to account for a high proportion of long-term sequelae of prematurity.
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| 24. |
- Jacobson, Lena, et al.
(författare)
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Retinal ganglion cell topography predicts visual field function in spastic cerebral palsy
- 2020
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 62:9, s. 1100-1106
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to evaluate the use of optical coherence tomography (OCT) to identify and assess visual field defects caused by primary damage to the optic radiation in individuals with spastic cerebral palsy (CP). Ten individuals with spastic CP (six females, four males, with a median age of 21 years [range 17–38y]) had their brain lesions documented with conventional magnetic resonance imaging (MRI) and diffusion-weighted MRI fibre tractography. Their macular ganglion cell layer (GCL) and inner plexiform layer (IPL) were examined with OCT and their visual fields were plotted. All participants had good visual acuity and were able to cooperate with the MRI and OCT examinations, as well as undergoing reliable perimetry. We found focal thinning of the GCL+IPL and corresponding homonymous visual field defects in individuals with brain damage affecting the optic radiation. We used GCL+IPL sector asymmetry as a sensitive OCT parameter to identify focal visual field defects. We observed no such sector asymmetry in GCL+IPL, or focal visual field defects, in individuals with normal MRI optic radiation imaging. Lesions affecting the optic radiation cause retrograde trans-synaptic degeneration of retinal ganglion cells. OCT examination of the GCL in the macula identified corresponding focal damage to the optic radiation in individuals with spastic CP and can be used to predict focal visual field defects. What this paper adds: Spastic cerebral palsy (CP) may be associated with damage to the optic radiation. Damage to the optic radiation causes retrograde trans-synaptic degeneration (RTSD). RTSD can be mapped using optical coherence tomography. Ganglion cell topography can predict visual field defects in individuals with spastic CP.
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| 25. |
- Smirthwaite, Goldina, et al.
(författare)
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Indication criteria for cataract extraction and gender differences in waiting time
- 2014
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 92:5, s. 432-438
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The purpose of this study was to investigate national indication criteria tool for cataract extraction (NIKE), a clinical tool for establishing levels of indications for cataract surgery, in relation to gender differences in waiting times for cataract extraction (CE).Methods: Data were collected by The Swedish National Cataract Register (NCR). Eye clinics report to NCR voluntarily and on regular basis (98% coverage). Comparisons regarding gender difference in waiting times were performed between NIKE-categorized and non-NIKE-categorized patients, as well as between different indication groups within the NIKE-system. All calculations were performed in spssversion 20. Multivariate analyses were carried out using logistic regression, and single variable analyses were carried out by Student’s t-test or chi square as appropriate.Results: Gender, age, visual acuity and NIKE-categorization were associated with waiting time. Female patients had a longer waiting time to CE than male, both within and outside the NIKE-system. Gender difference in waiting time was somewhat larger among patients who had not been categorized by NIKE. In the non-NIKE-categorized group, women waited 0.20 months longer than men. In the group which was NIKE-categorized, women waited 0.18 months longer than men.Conclusions: It is reasonable to assume that prioritizing patients by means of NIKE helps to reduce the gender differences in waiting time. Gender differences in waiting time have decreased as NIKE was introduced and there may be a variety of explanations for this. However, with the chosen study design, we could not distinguish between effects related to NIKE and those due to other factors which occurred during the study period.
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