| 1. |
- Björkman, Kristoffer, et al.
(author)
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Clinical course of patients with single large-scale mtDNA deletions and childhood onset anemia
- 2022
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In: 14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9).
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Conference paper (other academic/artistic)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. |
- Strömland, Kerstin, 1934, et al.
(author)
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Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors.
- 2007
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In: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 143A:12, s. 1317-1325
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Journal article (peer-reviewed)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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| 3. |
- Nordanstig, Joakim, et al.
(author)
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Vascular Quality of Life Questionnaire-6 facilitates health-related quality of life assessment in peripheral arterial disease
- 2014
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In: Journal of Vascular Surgery. - : Elsevier BV. - 0741-5214 .- 1097-6809. ; 59:3, s. 700-U492
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Journal article (peer-reviewed)abstract
- Background: Most commonly used outcome measures in peripheral arterial disease (PAD) provide scarce information about achieved patient benefit. Therefore, patient-reported outcome measures have become increasingly important as complementary outcome measures. The abundance of items in most health-related quality of life instruments makes everyday clinical use difficult. This study aimed to develop a short version of the 25-item Vascular Quality of Life Questionnaire (VascuQoL-25), a PAD-specific health-related quality of life instrument. Methods: The study recruited 129 individuals with intermittent claudication and 71 with critical limb ischemia from two university hospitals. Participants were a mean age of 70 +/- 9 years, and 57% were men. All patients completed the original VascuQoL when evaluated for treatment, and 127 also completed the questionnaire 6 months after a vascular procedure. The VascuQoL-25 was reduced based on cognitive interviews and psychometric testing. The short instrument, the VascuQoL-6, was tested using item-response theory, exploring structure, precision, item fit, and targeting. A subgroup of 21 individuals with intermittent claudication was also tested correlating the results of VascuQoL-6 to the actual walking capacity, as measured using global positioning system technology. Results: On the basis of structured psychometric testing, the six most informative items were selected (VascuQoL-6) and tested vs the original VascuQoL-25. The correlation between VascuQoL-25 and VascuQoL-6 was r = 0.88 before intervention, r = 0.96 after intervention, and the difference was r = 0.91 (P < .001). The Cronbach alpha for the VascuQoL-6 was .85 before and .94 after intervention. Cognitive interviews indicated that the responders considered all six items to be relevant and comprehensible. Rasch analysis was used to reduce response options from seven (VascuQoL-25) to four (VascuQoL-6). VascuQol-6 was shown to have high precision and discriminative properties. Item fit was excellent, with both "infit" and "outfit" between 0.7 and 1.3 for all six items. The standardized response mean after intervention was 1.15, indicating good responsiveness to clinical change. VascuQoL-6 results correlated strongly (r = 0.72; P < .001) with the actual measured walking ability (n = 21). Conclusions: VascuQoL-6 is a valid and responsive instrument for the assessment of health-related quality of life in PAD. The main advantage is the compact format that offers a possibility for routine use in busy clinical settings.
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| 4. |
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| 5. |
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| 6. |
- Anesäter, Erik, et al.
(author)
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The influence on wound contraction and fluid evacuation of a rigid disc inserted to protect exposed organs during negative pressure wound therapy.
- 2011
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In: International Wound Journal. - 1742-481X. ; 8, s. 393-399
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Journal article (peer-reviewed)abstract
- The use of a rigid disc as a barrier between the wound bed and the wound filler during negative pressure wound therapy (NPWT) has been suggested to prevent damage to exposed organs. However, it is important to determine that the effects of NPWT, such as wound contraction and fluid removal, are maintained during treatment despite the use of a barrier. This study was performed to examine the effect of NPWT on wound contraction and fluid evacuation in the presence of a rigid disc. Peripheral wounds were created on the backs of eight pigs. The wounds were filled with foam, and rigid discs of different designs were inserted between the wound bed and the foam. Wound contraction and fluid evacuation were measured after application of continuous NPWT at -80 mmHg. Wound contraction was similar in the presence and the absence of a rigid disc (84 ± 4% and 83 ± 3%, respectively, compared with baseline). Furthermore, the rigid disc did not affect wound fluid removal compared with ordinary NPWT (e.g. after 120 seconds, 71 ± 4 ml was removed in the presence and 73 ± 3 ml was removed in the absence of a disc). This study shows that a rigid barrier may be placed under the wound filler to protect exposed structures during NPWT without affecting wound contraction and fluid removal, which are two crucial features of NPWT.
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| 7. |
- Pivodic, Aldina, 1978, et al.
(author)
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Individual Risk Prediction for Sight-Threatening Retinopathy of Prematurity Using Birth Characteristics
- 2020
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In: JAMA Ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 138:1, s. 21-29
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Journal article (peer-reviewed)abstract
- Importance: To prevent blindness, repeated infant eye examinations are performed to detect severe retinopathy of prematurity (ROP), yet only a small fraction of those screened need treatment. Early individual risk stratification would improve screening timing and efficiency and potentially reduce the risk of blindness. Objectives: To create and validate an easy-to-use prediction model using only birth characteristics and to describe a continuous hazard function for ROP treatment. Design, Setting, and Participants: In this retrospective cohort study, Swedish National Patient Registry data from infants screened for ROP (born between January 1, 2007, and August 7, 2018) were analyzed with Poisson regression for time-varying data (postnatal age, gestational age [GA], sex, birth weight, and important interactions) to develop an individualized predictive model for ROP treatment (called DIGIROP-Birth [Digital ROP]). The model was validated internally and externally (in US and European cohorts) and compared with 4 published prediction models. Main Outcomes and Measures: The study outcome was ROP treatment. The measures were estimated momentary and cumulative risks, hazard ratios with 95% CIs, area under the receiver operating characteristic curve (hereinafter referred to as AUC), sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: Among 7609 infants (54.6% boys; mean [SD] GA, 28.1 [2.1] weeks; mean [SD] birth weight, 1119 [353] g), 442 (5.8%) were treated for ROP, including 142 (40.1%) treated of 354 born at less than 24 gestational weeks. Irrespective of GA, the risk for receiving ROP treatment increased during postnatal weeks 8 through 12 and decreased thereafter. Validations of DIGIROP-Birth for 24 to 30 weeks' GA showed high predictive ability for the model overall (AUC, 0.90 [95% CI, 0.89-0.92] for internal validation, 0.94 [95% CI, 0.90-0.98] for temporal validation, 0.87 [95% CI, 0.84-0.89] for US external validation, and 0.90 [95% CI, 0.85-0.95] for European external validation) by calendar periods and by race/ethnicity. The sensitivity, specificity, PPV, and NPV were numerically at least as high as those obtained from CHOP-ROP (Children's Hospital of Philadelphia-ROP), OMA-ROP (Omaha-ROP), WINROP (weight, insulinlike growth factor 1, neonatal, ROP), and CO-ROP (Colorado-ROP), models requiring more complex postnatal data. Conclusions and Relevance: This study validated an individualized prediction model for infants born at 24 to 30 weeks' GA, enabling early risk prediction of ROP treatment based on birth characteristics data. Postnatal age rather than postmenstrual age was a better predictive variable for the temporal risk of ROP treatment. The model is an accessible online application that appears to be generalizable and to have at least as good test statistics as other models requiring longitudinal neonatal data not always readily available to ophthalmologists.
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| 8. |
- Chung, Jou Ku, et al.
(author)
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Development and verification of a pharmacokinetic model to optimize physiologic replacement of rhIGF-1/rhIGFBP-3 in preterm infants
- 2017
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In: Pediatric Research. - : Springer Science and Business Media LLC. - 0031-3998 .- 1530-0447. ; 81:3, s. 504-510
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Journal article (peer-reviewed)abstract
- Background:rhIGF-1/rhIGFBP-3 is being investigated for prevention of retinopathy of prematurity in extremely preterm infants.Methods:A population pharmacokinetic model was developed using data from phase I/II (Sections A-C) trials of rhIGF-1/rhIGFBP-3 and additional studies in preterm infants to predict optimal dosing to establish/maintain serum IGF-1 within physiological intrauterine levels. In Section D of the phase II study, infants (gestational age (GA) (wk+d) 23+0 to 27+6) were randomized to rhIGF-1/rhIGFBP-3, administered at the model-predicted dose of 250 μg/kg/d continuous i.v. infusion up to postmenstrual age (PMA) 29 wk+6 d or standard of care. An interim pharmacokinetic analysis was performed for the first 10 treated infants to verify dosing.Results:Serum IGF-1 data were reviewed for 10 treated/9 control infants. Duration of therapy in treated infants ranged 1-34.5 d. At baseline (before infusion and <24 h from birth), mean (SD) IGF-1 was 19.2 (8.0) μg/l (treated) and 15.4 (4.7) μg/l (controls). Mean (SD) IGF-1 increased to 45.9 (19.6) μg/l at 12 h in treated infants, and remained within target levels for all subsequent timepoints. For treated infants, 88.8% of the IGF-1 measurements were within target levels (controls, 11.1%).Conclusion:Through the reported work, we determined appropriate rhIGF-1/rhIGFBP-3 dosing to achieve physiological intrauterine serum IGF-1 levels in extremely preterm infants.
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| 9. |
- Holmström, Gerd E, et al.
(author)
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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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In: JAMA OPHTHALMOLOGY. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 132:2, s. 182-189
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Journal article (peer-reviewed)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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| 10. |
- Holmström, Gerd, 1951-, et al.
(author)
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New modifications of Swedish ROP guidelines based on 10-year data from the SWEDROP register
- 2020
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In: British Journal of Ophthalmology. - : BMJ. - 0007-1161 .- 1468-2079. ; 104:7, s. 943-949
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Journal article (peer-reviewed)abstract
- BACKGROUND/AIMS:During the last decade, improved neonatal care has resulted in increased survival of the most immature infants and improved health of more mature infants. We hypothesise that this has affected incidence and treatment of retinopathy of prematurity (ROP), enabling guidelines for screening to be modified.METHODS: In Sweden, all infants with gestational age (GA) at birth ≤30 weeks are screened for ROP. Results are registered in a web-based register, Swedish National ROP Register, with a coverage rate of 97%. Incidence of ROP and frequency of treatment, aspects on natural course of ROP and number of examinations, are calculated in relation to GA at birth in infants born during 2008-2017.RESULTS: Of 7249 infants, 31.9% (2310) had ROP and 6.1% (440) were treated. No infant with GA 30 weeks was treated. Incidence of ROP remained similar, but frequency of treatment increased (p=0.023). Over time, GA and birth weight were reduced in infants with ROP and with treated ROP. In the most immature infants, postmenstrual age was lower and postnatal age was higher when any ROP and stage 3 ROP were first detected (p<0.001). At treatment, postmenstrual but not postnatal age of the infant was associated with GA (p<0.001). During the 10-year period, 46 038 examinations were performed.CONCLUSION: Modification of Swedish guidelines is proposed, including only infants with a GA of <30 weeks and postponing the first examination with 1 week in infants with GA 26-29 weeks. This would spare many infants from stressful examinations and reduce eye examinations with at least 20%.
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| 11. |
- Källén, Karin, et al.
(author)
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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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In: Jama Ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 134:5, s. 555-562
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Journal article (peer-reviewed)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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| 12. |
- Larsson, Eva, et al.
(author)
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Peripheral and central visual fields in 11-year-old children who had been born prematurely and at term
- 2004
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In: Journal of pediatric ophthalmology and strabismus. - : SLACK, Inc.. - 0191-3913 .- 1938-2405. ; 41, s. 39-
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Journal article (peer-reviewed)abstract
- PURPOSE: To examine the peripheral and central visual fields in children who had been born prematurely and at term. METHODS: Four groups of 11-year-old children were examined: group 1 included 24 children who had been born at term (control group); group 2 included 20 children who had been born prematurely without ROP; group 3 included 22 children who had been born prematurely with untreated ROP (stages 2 and 3); and group 4 included 21 children who had been born prematurely and underwent cryotreatment for severe ROP. Their peripheral visual fields were examined with Goldmann perimetry. Static high-pass resolution perimetry was used to evaluate their central visual fields within 30 degrees. RESULTS: The peripheral visual fields were constricted in children who had undergone cryotreatment (group 4), as compared with the other groups (1 to 3). We found no difference between the groups of children who had been born prematurely with or without ROP (groups 2 and 3) and the control group. The function of the central visual fields, expressed as neural capacity, was reduced in the children who had been born prematurely compared with the controls, significantly in their left eyes only. The children who underwent cryotreament did not differ from the other children who had been born prematurely in this respect. CONCLUSIONS: The peripheral visual fields were constricted in children who had undergone cryotreatment. It is uncertain whether this was caused by the treatment or by severe ROP. The central visual fields showed a tendency of reduced neural capacity in the children who had been born prematurely, reflecting a reduced density of retinocortical neural channels. However, this was not related to ROP or cryotreatment.
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| 13. |
- Magnusson, Gunilla, 1968, et al.
(author)
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The prevalence of visual axis opacification in the Swedish Pediatric Cataract Register
- 2024
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In: ACTA OPHTHALMOLOGICA. - 1755-375X .- 1755-3768. ; 102:6
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Journal article (peer-reviewed)abstract
- Purpos o report on the occurrence of postoperative visual axis opacification (VAO) in children younger than 5 years of age operated for cataract in Sweden, and to analyse correlations with age at surgery and surgical method.Methods Data were derived from the Swedish Pediatric Cataract Register (PECARE). All children operated on between 1 January 2007 and 31 December 2020 were included. Follow-ups at 1, 2 and 5 years of age were analysed.Results Cataract surgery were performed on 770 eyes belonging to 549 children (n = 282 boys, 51.4%); 327/770 (42.5%) of the children underwent surgery before 3 months of age and 216/770 (28%) before 6 weeks of age. Data on 881 follow-up visits were registered. At the follow up-visits at 1, 2 and 5 years of age, VAO was present in 154/349 (44.1%), 41/323 (12.7%) and 25/208 (12%). The majority of the children with VAO underwent cataract surgery before age 6 months, with a predominance before age 2 months. Primary IOL was implanted in 601/770 (78%) of eyes; 40.8% had an acrylic one-piece lens, 31.8% had a bag-in-the-lens IOL, 21.9% were aphakic and 5.2% had an acrylic three-piece lens. Implantation of a bag-in-the-lens IOL was related to a significantly lower occurrence of VAO compared to other types of IOL, including aphakia (p < 0.0002).Conclusion Our results are in accordance with the literature. Primary bag-in-the-lens IOL implantation before 2 years of age seems adequate and safe, with a low occurrence of VAO, and can thus be continued as routine in Sweden.
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| 14. |
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| 15. |
- Hanner, P, et al.
(author)
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Clinical observations of effects on central nervous system in patients with acute facial palsy.
- 1987
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In: Archives of otolaryngology--head & neck surgery. - 0886-4470. ; 113:5, s. 516-20
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Journal article (peer-reviewed)abstract
- Twenty-eight consecutive patients with acute unilateral facial palsy were examined with special reference to clinical signs of central nervous system involvement. The clinical investigation in the acute stage of the disease showed that only seven patients had solitary facial nerve dysfunction, while the remaining patients had evidence of more widespread disease involvement. The most frequent finding was a trigeminal dysfunction of the paretic side, as shown by paresthesia and sensibility disturbance corresponding to the sensoritrigeminal area, as well as a dysfunction of the trigeminal component of the corneal reflex of the paretic side. Three patients showed migrating symptoms that were suggestive of a brain-stem disorder. In addition, four patients had an optic neuropathy, while an abnormal brain-stem audiometry response was demonstrated in five patients. The outcome of acute facial palsy one to two years after onset, however, could not be predicted from the clinical central nervous system signs. The degree of the palsy in the acute stage of the disease still seemed to be one of the most important prognostic factors. It is concluded that acute facial palsy is not a single entity, but rather a feature of different neurologic conditions.
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| 16. |
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| 17. |
- Nyström, Alf, et al.
(author)
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The Swedish National Pediatric Cataract Register (PECARE): incidence and onset of postoperative glaucoma
- 2020
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In: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 98:7, s. 654-661
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Journal article (peer-reviewed)abstract
- Purpose The aim was to report cumulative incidence and time of onset of postoperative glaucoma in a paediatric early cataract surgery cohort. Methods Data were retrieved from the Pediatric Cataract Register (PECARE), a prospective register of Swedish cataract operations before 8 years of age. All eyes with surgery between January 2007 and December 2014 and a registered follow-up were included. Cataracts caused by uveitis, trauma or coexisting congenital glaucoma were excluded. Glaucoma was defined as early onset if diagnosed within a year after surgery and late onset if diagnosed later. Results The study included 288 eyes in 207 children (106 girls), 81 with bilateral and 126 with unilateral cataracts, with a mean follow-up of 3.31 +/- 1.77 years. Of the 288, 168 (58.3%) had surgery before 3 months of age; most of these 92.3% (155/168) were defined as dense, 208 (72.2%) were below 1 year of age. Cumulative incidence of surgically treated glaucoma among individuals was 23.7% (49/207). Median time to glaucoma onset was 0.91 years (range: 0.05-4.97 years) for eyes. Early-onset glaucoma was found in 98 % (63/64), and late onset in 2% (1/64). Conclusion In this paediatric cataract cohort, a majority of eyes had surgery before 3 months of age (58.3%). Secondary glaucoma-onset peaked within the first postoperative year, with a cumulative incidence of 23.7%. Surgery performed after the first month of life, resulted in a lower glaucoma rate. Long-term follow-up will reveal whether the low rate of late-onset glaucoma with early surgery will last, and if so, the consequences.
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| 18. |
- Teär Fahnehjelm, Kristina, et al.
(author)
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Visual perceptual skills and visual motor integration in children and adolescents after allogeneic hematopoietic stem cell transplantation
- 2018
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In: Pediatric Transplantation. - : Wiley. - 1397-3142 .- 1399-3046. ; 22:2
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Journal article (peer-reviewed)abstract
- The aim of the study was to study visual acuity, visual perceptual, and VMI skills in patients after HSCT in childhood. Tests of visual perceptual skills, VMI, and visual acuity were performed in 102 children/adolescents (age range 4.3-20.9years). Mean time from HSCT to testing was 6.0years (0.9-17.5years). Visual acuity was median 1.0 decimal (range 0.16-1.6). Visual perceptual skills (memory, form constancy, visual sequential memory) and VMI were low compared to age-equivalent normative data with, respectively, 36%, 45%, 60%, and 46% of all patients performing below the 25 percentile. All patients performed significantly lower than the 50 percentile in the reference material in visual sequential memory, P<.001 (boys P<.001 and girls P<.05). All patients also performed significantly lower than the 50 percentile in VMI (P<.01) (boys P<.05). Pretransplant conditioning regimen did not affect outcome if the results were corrected for age at HSCT. Visual perceptual skill problems and VMI problems frequently occur in patients after HSCT in childhood. Age at HSCT and original diagnosis influence the outcome. Neuropsychological assessment including visual perception is recommended in children after HSCT.
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| 19. |
- Åkebrand, Rebecka, et al.
(author)
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Ophthalmological characteristics in children with Leigh syndrome : A long-term follow-up
- 2016
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In: Acta Ophthalmologica. - : John Wiley & Sons. - 1755-375X .- 1755-3768. ; 94:6, s. 609-617
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Journal article (peer-reviewed)abstract
- PURPOSE: To describe ophthalmological characteristics in children with Leigh syndrome (LS), an inherited, progressive, mitochondrial encephalomyopathy, at diagnosis and over time, and relate the results to causative genetic mutations.METHODS: Forty-four children with LS (19 females), with a median age of 2.4 years (range: 0.6-14.2 years) at diagnosis, were studied at the Queen Silvia Children's Hospital, Gothenburg, Sweden. Twenty-eight children had known genetic defects. The children underwent an ophthalmological examination, including visual acuity (VA), eye motility, refraction, slit lamp examination, ophthalmoscopy and a full-field electroretinogram (ff-ERG). Seventeen children were available for follow-up over a mean time of 5.4 years (range: 0.3-14.8 years). The results of these children were compared with an age- and sex-matched reference group of healthy children (n = 119).RESULTS: Altogether 36/44 of the children (82%) had ophthalmological abnormalities. The most common findings were refractive errors (n = 16/25), low VA (n = 9/36), strabismus (n = 8/42), reduced eye motility (n = 8/40), optic atrophy (n = 7/41), retinal pigmentation (n = 6/40) and nystagmus (n = 6/42). Several ophthalmological manifestations appeared over time. In 5/22 children, ff-ERG showed retinal dystrophy. No significant correlation between phenotype and genotype was found. The children with LS had significantly lower VA (p < 0.0001, Mantel-Haenszel chi-square exact test), more astigmatism (p = 0.012, Fisher's exact test) and higher incidence of strabismus (p = 0.0002) compared to controls at follow-up.CONCLUSIONS: In this unique cohort of children with LS, the vast majority showed ophthalmological findings at diagnosis, which increased over time. Therefore, we recommend that all children diagnosed with LS should be followed up with regular ophthalmological examinations.
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| 20. |
- Huang, X. F., et al.
(author)
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Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci
- 2020
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In: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 61:6
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Journal article (peer-reviewed)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. |
- Lagali, Neil, et al.
(author)
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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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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 8:1
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Journal article (peer-reviewed)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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| 22. |
- Johansson, Björn
(author)
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Opacification of anterior part of hydrophilic acrylic IOL or a prelenticular inflammatory membrane?
- 2012
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In: Journal of cataract and refractive surgery. - Philadelphia : Elsevier. - 0886-3350 .- 1873-4502. ; 38:6, s. 1115-1116
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Journal article (peer-reviewed)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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| 23. |
- Holmström, Gerd, 1951-, et al.
(author)
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Increased frequency of retinopathy of prematurity over the last decade and significant regional differences
- 2018
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In: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 96:2, s. 142-148
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Journal article (peer-reviewed)abstract
- Purpose: Retinopathy of prematurity (ROP) causes childhood blindness globally in prematurely born infants. Although increased levels of oxygen supply lead to increased survival and reduced frequency of cerebral palsy, increased incidence of ROP is reported. Methods: With the help of a Swedish register for ROP, SWEDROP, national and regional incidences of ROP and frequencies of treatment were evaluated from 2008 to 2015 (n = 5734), as well as before and after targets of provided oxygen changed from 85-89% to 91-95% in 2014. Results: Retinopathy of prematurity (ROP) was found in 31.9% (1829/5734) of all infants with a gestational age (GA) of <31 weeks at birth and 5.7% of the infants (329/5734) had been treated for ROP. Analyses of the national data revealed an increased incidence of ROP during the 8-year study period (p = 0.003), but there was no significant increase in the frequency of treatment. There were significant differences between the seven health regions of Sweden, regarding both incidence of ROP and frequency of treatment (p < 0.001). Comparison of regional data before and after the new oxygen targets revealed a significant increase in treated ROP in one region [OR: 2.24 (CI: 1.11-4.49), p = 0.024] and a borderline increase in one other [OR: 3.08 (CI: 0.99-9.60), p = 0.052]. Conclusion: The Swedish national ROP register revealed an increased incidence of ROP during an 8-year period and significant regional differences regarding the incidence of ROP and frequency of treatment.
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| 24. |
- Hallengren, Bengt, et al.
(author)
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Normal visual fields as assessed by computerized static threshold perimetry in patients with untreated primary hypothyroidism
- 1989
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In: Acta Endocrinologica. - 0001-5598. ; 121:4, s. 495-500
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Journal article (peer-reviewed)abstract
- In this prospective study, 25 consecutive patients with untreated primary hypothyroidism were tested with a highly sensitive perimetric technique, since a high prevalence of visual field defects has been described in this condition. All patients had clinical hypothyroidism, a serum TSH value greater than 20 mU/l (reference range 0.4-4.0) and decreased/low normal serum total T4 concentration. Visual fields were tested with fully automated threshold-measuring computerized perimetry of the central 30 degrees field. Interpretation of fields included computer-assisted analysis provided by a perimetric statistical programme package. In 23 patients, conventional inspection and computer-assisted analysis showed no visual field defects. Two patients were excluded from the latter analysis: one patient who did not respond adequately at computerized perimetry and in whom manual field tests were entirely normal: one patient who had low sensitivity values in the uppermost parts of both visual fields owing to markedly swollen upper eye lids. In conclusion, although pituitary hyperplasia has been well documented in primary hypothyroidism, the present prospective study clearly indicates that visual field defects are not a common finding in patients with this disease.
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| 25. |
- Akerblom, H., et al.
(author)
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Association of Gastric Bypass Surgery With Risk of Developing Diabetic Retinopathy Among Patients With Obesity and Type 2 Diabetes in Sweden: An Observational Study
- 2021
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In: Jama Ophthalmology. - : American Medical Association (AMA). - 2168-6165 .- 2168-6173. ; 139:2, s. 200-205
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Journal article (peer-reviewed)abstract
- IMPORTANCE Knowledge of the incidence and progression of diabetic retinopathy (DR) after gastric bypass surgery (GBP) in patients with obesity and diabetes could guide the management of these patients. OBJECTIVE To investigate the incidence of diabetic ocular complications in patients with type 2 diabetes after GBP compared with the incidence of diabetic ocular complications in a matched cohort of patients with obesity and diabetes who have not undergone GBP. DESIGN, SETTING, AND PARTICIPANTS Data from 2 nationwide registers in Sweden, the Scandinavian Obesity Surgery Registry and the National Diabetes Register, were used for this cohort study. A total of 5321 patients with diabetes from the Scandinavian Obesity Surgery Registry who had undergone GBP from January 1, 2007, to December 31, 2013, were matched with 5321 patients with diabetes from the National Diabetes Register who had not undergone GBP, based on sex, age, body mass index (BMI), and calendar time (2007-2013). Follow-up data were obtained until December 31, 2015. Statistical analysis was performed from October 5, 2018, to September 30, 2019. EXPOSURE Gastric bypass surgery. MAIN OUTCOMES AND MEASURES Incidence of new DR and other diabetic ocular complications. RESULTS The study population consisted of 5321 patients who had undergone GBP (3223 women [60.6%]; mean [SD] age, 49.0 [9.5] years) and 5321 matched controls (3395 women [63.8%]; mean [SD] age, 47.1 [11.5] years). Mean (SD) follow-up was 4.5 (1.6) years. The mean (SD) BMI and hemoglobin A1c concentration at baseline were 42.0 (5.7) and 7.6%(1.5%), respectively, in the GBP group and 40.9 (7.3) and 7.5%(1.5%), respectively, in the control group. The mean (SD) duration of diabetes was 6.8 (6.3) years in the GBP group and 6.4 (6.4) years in the control group. The risk for new DR was reduced in the patients who underwent GBP (hazard ratio, 0.62 [95% CI, 0.49-0.78]; P <.001). The dominant risk factors for development of DR at baseline were diabetes duration, hemoglobin A1c concentration, use of insulin, glomerular filtration rate, and BMI. CONCLUSIONS AND RELEVANCE This nationwide matched cohort study suggests that there is a reduced risk of developing new DR associated with GBP, and no evidence of an increased risk of developing DR that threatened sight or required treatment. (c) 2021 American Medical Association. All rights reserved.
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