[Diagnosis, rehabilitation and development of disability 2000-2019 in Iceland].

INTRODUCTION: The disability assessment standard based on medically recognized illnesses or disabilities was introduced in Iceland 1999. The aim of this study is to examine the development of Social Insurance Administration (Tryggingastofnun ríkisins, TR) rulings regarding rehabilitation and disability pensions over a twenty-year period, since its introduction. MATERIAL AND METHODS: All registered diagnoses in the medical certificates of TR due to the approved rehabilitation or disability pension were examined in the period 2000-2019. The gender distribution and age distribution of these applicants and the number development during the period are described. At the same time, costs as a percentage of government expenditure are examined. RESULTS: The number of younger rehabilitation pensioners has increased rapidly in recent years, at the same time as the relative increase in disability pensioners has slowed slightly. Mental and musculoskeletal disorders are by far the most common types of illness leading to disability. Mental illnesses differ in terms of age distribution and increase over time. The proportion of individuals aged 18-66 with a 75% disability assessment has increased by a third during the period, from about 6% to 8%. The gender distribution of disability pensioners remains similar, with women accounting for 62% in total. Women are much more likely to receive disability pension due to musculoskeletal disorders than men and men are somewhat more likely to suffer from mental illness. The relative development of central government expenditure on total payments to rehabilitation and pensioners continues to grow as a proportion of central government expenditure. CONCLUSION: The number of rehabilitation pensioners has increased significantly since 2018, at the same time as the number of disability pensioners has decreased and there are indications that rehabilitation results in a lower number of new disability pensioners. Mental and musculoskeletal disorders are by far the most common types of illness leading to disability. A slightly lower proportion of disabled people have psychiatric diagnosis as a first diagnosis in the period 2000-2019 compared to those with a valid disability assessment in 2005, but the proportion of musculoskeletal disorders is slightly higher. Nevertheless, mental illnesses differ in age distribution and increase over time.

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer.

Familial clustering studies indicate that breast cancer risk has a substantial genetic component. To identify new breast cancer risk variants, we genotyped approximately 300,000 SNPs in 1,600 Icelandic individuals with breast cancer and 11,563 controls using the Illumina Hap300 platform. We then tested selected SNPs in five replication sample sets. Overall, we studied 4,554 affected individuals and 17,577 controls. Two SNPs consistently associated with breast cancer: approximately 25% of individuals of European descent are homozygous for allele A of rs13387042 on chromosome 2q35 and have an estimated 1.44-fold greater risk than noncarriers, and for allele T of rs3803662 on 16q12, about 7% are homozygous and have a 1.64-fold greater risk. Risk from both alleles was confined to estrogen receptor-positive tumors. At present, no genes have been identified in the linkage disequilibrium block containing rs13387042. rs3803662 is near the 5' end of TNRC9 , a high mobility group chromatin-associated protein whose expression is implicated in breast cancer metastasis to bone.

Albanian Health Promotion Model: a health perspective for Western Balkan countries.

This article proposes a mixed-blended model adapted for Western Balkan countries, advancing the connections between the Icelandic Model of Health Promotion and the assets models for health improvement through the whole school approach and non-formal education methodology. The need to reshape health promotion interventions in Western Balkan countries is urgent, and requires explicit synergies so that a more coherent approach can be taken in their utilization. To this end, we propose a new Albanian Health Promotion Model that integrates key concepts that are associated with the involvement of schoolchildren; parents/caregivers, grandparents, communities, and religious leaders; teachers and school staff; involvement of central and local governments; engagement of the private sector; involvement of non-governmental and civil society organizations; and, importantly, enables the development of supportive environments. The proposed model aims to contribute to a more in-depth theoretical understanding of health and development through integration of the key elements of various models, methods, approaches, and tools employed in health promotion practice. Making the theory of the Icelandic model more feasible for non-Nordic cultures could better contextualize the ideas in public health policy and practice. The Albanian Health Promotion Model may also support interventions to maximize their results in vulnerable communities that have specific requirements and, as a result, could be extrapolated to similar countries in the region and beyond.

National application of the European visual field standards for driving: a survey study.

Aims: To provide an overview of how the European visual field standards for driving (specified in Commission Directive 2009/113/EC) are applied and determine whether individuals with visual field defects are treated equally across Europe. Methods: One ophthalmic expert from each of 32 European countries was invited to participate in an electronic survey. They were presented with threshold and Esterman perimetry results of 15 cases of visual field defects and asked to classify each case as either passed or failed in reference to their national standards. The results were compared with the European Driving Test Group 1 (EDT1), which is a new perimetry algorithm that adheres to the recommendations by the Eyesight Working Group. Fleiss' kappa was used to determine the inter-rater agreement. Results: Twenty-five countries responded. Three of 15 cases were passed by all. Full agreement on a failed case was not reached. Denmark graded most leniently and passed 12 cases. Bulgaria, Romania and Slovakia graded most strictly and passed five cases. The Fleiss' kappa score was 0.52 (95% CI 0.49 to 0.55). Only Slovenia was in full agreement with the EDT1. Fifteen countries endorsed specific perimetric tests for assessing fitness to drive. Five of these also defined pass/fail criteria. Conclusion: The directive fails to establish a uniform approach to the visual field requirements, as evident by moderate pass/fail agreement between the national experts. Because the visual standards for driving are enforced differently, identical visual field loss can result in either revocation or approval of a driving license.

Successful treatment with repeated dexamethasone implant injections for recurrent macular edema after acute retinal necrosis.

BACKGROUND: The treatment of recurrent cystoid macular edema associated with acute retinal necrosis is challenging due to the concern that treatment with intravitreal steroids may reactivate the retinitis. CASE REPORT: An immunocompetent patient diagnosed with acute retinal necrosis was treated with oral valacyclovir and intravitreal injections of foscarnet. Giant tears in her retina necessitated a vitrectomy with silicone oil. She developed cystoid macular edema after the removal of the silicone oil. The edema responded to high-dose prednisolone but recurred when the dose was tapered to 20 mg daily. Under close surveillance and increased antiviral medication, she was treated with a dexamethasone implant with complete resolution of the edema. Unfortunately, the edema recurred, and the treatment had to be repeated. Over 18 months, she received five dexamethasone implants without recurrence of the viral retinitis. CONCLUSIONS: This case shows successful treatment of recurring cystoid macular edema following acute retinal necrosis with repeated intravitreal dexamethasone implants in a patient receiving valacyclovir maintenance treatment.

A traffic perimetry test that adheres to the European visual field requirements.

PURPOSE: European visual requirements for driving generally follow the standards of the European Union (EU), but the lack of a uniform perimetry algorithm leads to differing practices in enforcing visual field regulations. The purpose of this study was to develop a perimetry algorithm for group 1 driving licenses (car and motorcycle) that adheres to the European requirements. METHODS: We determined the features of a traffic perimetry algorithm complying with the EU directive 2009/113/EC and the underlying scientific report by the Eyesight Working Group. The final algorithm was a binocular, supra-threshold test with 37 central and 86 peripheral test points within 140º x 40º. It was created as a custom test for an Octopus 900 perimeter and tested on participants with known visual field defects. Findings were compared with the Esterman program in reference to British and Norwegian regulations, which both recommend the Esterman program for assessing fitness to drive but differ in definition of negative and positive results. RESULTS: Twenty-five participants were examined. In comparison with the traffic perimetry algorithm, sensitivity and specificity of the British regulations were 0.78 (95% confidence interval (CI) 0.40-0.97) and 1.00 (95% CI 0.79-1.00). Similarly, sensitivity and specificity of the Norwegian regulations were 0.89 (95% CI 0.52-1.00) and 0.81 (95% CI 0.54-0.96). CONCLUSION: The lack of a perimetry algorithm that conforms to the scientific recommendations challenges the fundamental right of European drivers for legal equality. This study demonstrates a binocular supra-threshold test that adheres to the European visual field requirements for group 1 driving licenses.

The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

BACKGROUND: Most, if not all, of the cellular functions of the BRCA1 protein are mediated through heterodimeric complexes composed of BRCA1 and a related protein, BARD1. Some breast-cancer-associated BRCA1 missense mutations disrupt the function of the BRCA1/BARD1 complex. It is therefore pertinent to determine whether variants of BARD1 confer susceptibility to breast cancer. Recently, a missense BARD1 variant, Cys557Ser, was reported to be at increased frequencies in breast cancer families. We investigated the role of the BARD1 Cys557Ser variant in a population-based cohort of 1,090 Icelandic patients with invasive breast cancer and 703 controls. We then used a computerized genealogy of the Icelandic population to study the relationships between the Cys557Ser variant and familial clustering of breast cancer. METHODS AND FINDINGS: The Cys557Ser allele was present at a frequency of 0.028 in patients with invasive breast cancer and 0.016 in controls (odds ratio [OR] = 1.82, 95% confidence interval [CI] 1.11-3.01, p = 0.014). The alleleic frequency was 0.037 in a high-predisposition group of cases defined by having a family history of breast cancer, early onset of breast cancer, or multiple primary breast cancers (OR = 2.41, 95% CI 1.22-4.75, p = 0.015). Carriers of the common Icelandic BRCA2 999del5 mutation were found to have their risk of breast cancer further increased if they also carried the BARD1 variant: the frequency of the BARD1 variant allele was 0.047 (OR = 3.11, 95% CI 1.16-8.40, p = 0.046) in 999del5 carriers with breast cancer. This suggests that the lifetime probability of a BARD1 Cys557Ser/BRCA2 999del5 double carrier developing breast cancer could approach certainty. Cys557Ser carriers, with or without the BRCA2 mutation, had an increased risk of subsequent primary breast tumors after the first breast cancer diagnosis compared to non-carriers. Lobular and medullary breast carcinomas were overrepresented amongst Cys557Ser carriers. We found that an excess of ancestors of contemporary carriers lived in a single county in the southeast of Iceland and that all carriers shared a SNP haplotype, which is suggestive of a founder event. Cys557Ser was found on the same SNP haplotype background in the HapMap Project CEPH sample of Utah residents. CONCLUSIONS: Our findings suggest that BARD1 Cys557Ser is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk extends to carriers of the BRCA2 999del5 mutation.

Oxygen saturation in human retinal vessels is higher in dark than in light.

PURPOSE: Animal studies have indicated that retinal oxygen consumption is greater in dark than light. In this study, oxygen saturation is measured in retinal vessels of healthy humans during dark and light. METHODS: The oximeter consists of a fundus camera, a beam splitter, a digital camera and software, which calculates hemoglobin oxygen saturation in the retinal vessels. In the first experiment, 18 healthy individuals underwent oximetry measurements after 30 minutes in the dark, followed by alternating 5-minute periods of white light (80 cd/m(2)) and dark. In the second experiment, 23 volunteers underwent oximetry measurements after 30 minutes in the dark, followed by light at 1, 10, and 100 cd/m(2). Three subjects were excluded from analysis in the first experiment and four in the second experiment because of poor image quality. RESULTS: In the first experiment, the arteriolar saturation decreased from 92% +/- 4% (n = 15; mean +/- SD) after 30 minutes in the dark to 89% +/- 5% after 5 minutes in the light (P = 0.008). Corresponding numbers for venules are 60% +/- 5% in the dark and 55% +/- 10% (P = 0.020) in the light. In the second experiment, the arteriolar saturation was 92% +/- 4% in the dark and 88% +/- 7% in 100 cd/m(2) light (n = 19, P = 0.012). The corresponding values for venules were 59% +/- 9% in the dark and 55% +/- 10% in 100 cd/m(2) light (P = 0.065). CONCLUSIONS: Oxygen saturation in retinal blood vessels is higher in dark than in 80 or 100 cd/m(2) light in human retinal arterioles and venules. The authors propose that this is a consequence of increased oxygen demand in the outer retina in the dark.

Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer.

We carried out a genome-wide association study of breast cancer predisposition with replication and refinement studies involving 6,145 cases and 33,016 controls and identified two SNPs (rs4415084 and rs10941679) on 5p12 that confer risk, preferentially for estrogen receptor (ER)-positive tumors (OR = 1.27, P = 2.5 x 10(-12) for rs10941679). The nearest gene, MRPS30, was previously implicated in apoptosis, ER-positive tumors and favorable prognosis. A recently reported signal in FGFR2 was also found to associate specifically with ER-positive breast cancer.