Refractive surgery - a review

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenRefractive errors, such as myopia, hyperopia and astigmatism, are very common all over the world. Refractive surgery started in the latter half of the twentieth century and over the last one or two decades refractive surgery with lasers has become popular. Refractive surgery for myopia flattens the cornea of the eye and decreases its refractive power. Surgery for hyperopia on the other hand increases the curvature of the cornea and increases the refractive power. Today this is most frequently done with a lasik procedure where a flap is lifted of the cornea and the laser surgery performed underneath the flap.Sjónlagsgallar, það er nærsýni, fjarsýni og sjónskekkja (astigmatismi), eru mjög algengir um allan heim og annar til þriðji hver maður notar gleraugu eða snertilinsur. Tilraunir til að leiðrétta sjónlagsgalla með skurðaðgerð hófust á seinni hluta tuttugustu aldar og á síðustu árum hafa leysiaðgerðir við sjónlagsgöllum náð miklum vinsældum. Oftast er gert við nærsýni en einnig sjónskekkju og fjarsýni. Aðgerð gegn nærsýni beinist að því að fletja hornhimnu augans og minnka þar með ljósbrot hennar en í fjarsýnisaðgerð er hornhimnan gerð kúptari til að auka ljósbrotið. Nú til dags er þetta yfirleitt gert með leysigeisla eftir að flipa hefur verið lyft af hornhimnunni. Leysiaðgerðir við sjónlagsgöllum eru algengar um allan heim og að minnsta kosti í Bandaríkjunum er boðið upp á sérnám í þessari grein augnlækninga. Íslenskir augnlæknar biðu átekta með að hefja slíkar aðgerðir hér heima þar til nægilega löng og góð reynsla lægi fyrir í nágrannalöndum en nú er farið að gera leysiaðgerðir við sjónlagsgöllum á Íslandi

A comprehensive radial velocity error budget for next generation Doppler spectrometers

We describe a detailed radial velocity error budget for the NASA-NSF Extreme Precision Doppler Spectrometer instrument concept NEID (NN-explore Exoplanet Investigations with Doppler spectroscopy). Such an instrument performance budget is a necessity for both identifying the variety of noise sources currently limiting Doppler measurements, and estimating the achievable performance of next generation exoplanet hunting Doppler spectrometers. For these instruments, no single source of instrumental error is expected to set the overall measurement floor. Rather, the overall instrumental measurement precision is set by the contribution of many individual error sources. We use a combination of numerical simulations, educated estimates based on published materials, extrapolations of physical models, results from laboratory measurements of spectroscopic subsystems, and informed upper limits for a variety of error sources to identify likely sources of systematic error and construct our global instrument performance error budget. While natively focused on the performance of the NEID instrument, this modular performance budget is immediately adaptable to a number of current and future instruments. Such an approach is an important step in charting a path towards improving Doppler measurement precisions to the levels necessary for discovering Earth-like planets.Comment: 20 pages, 12 figures, published in Proc. of SPIE Astronomical Telescopes + Instrumentation 201

Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder

Differential diagnosis between childhood onset attention-deficit/hyperactivity disorder (ADHD) and bipolar disorder (BD) remains a challenge, mainly due to overlapping symptoms and high rates of comorbidity. Despite this, genetic correlation reported for these disorders is low and non-significant. Here we aimed to better characterize the genetic architecture of these disorders utilizing recent large genome-wide association studies (GWAS). We analyzed independent GWAS summary statistics for ADHD (19,099 cases and 34,194 controls) and BD (20,352 cases and 31,358 controls) applying the conditional/conjunctional false discovery rate (condFDR/conjFDR) statistical framework that increases the power to detect novel phenotype-specific and shared loci by leveraging the combined power of two GWAS. We observed cross-trait polygenic enrichment for ADHD conditioned on associations with BD, and vice versa. Leveraging this enrichment, we identified 19 novel ADHD risk loci and 40 novel BD risk loci at condFDR <0.05. Further, we identified five loci jointly associated with ADHD and BD (conjFDR < 0.05). Interestingly, these five loci show concordant directions of effect for ADHD and BD. These results highlight a shared underlying genetic risk for ADHD and BD which may help to explain the high comorbidity rates and difficulties in differentiating between ADHD and BD in the clinic. Improving our understanding of the underlying genetic architecture of these disorders may aid in the development of novel stratification tools to help reduce these diagnostic difficulties.acceptedVersio

PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes

Thousands of genomic structural variants (SVs) segregate in the human population and can impact phenotypic traits and diseases. Their identification in whole-genome sequence data of large cohorts is a major computational challenge. Most current approaches identify SVs in single genomes and afterwards merge the identified variants into a joint call set across many genomes. We describe the approach PopDel, which directly identifies deletions of about 500 to at least 10,000 bp in length in data of many genomes jointly, eliminating the need for subsequent variant merging. PopDel scales to tens of thousands of genomes as we demonstrate in evaluations on up to 49,962 genomes. We show that PopDel reliably reports common, rare and de novo deletions. On genomes with available high-confidence reference call sets PopDel shows excellent recall and precision. Genotype inheritance patterns in up to 6794 trios indicate that genotypes predicted by PopDel are more reliable than those of previous SV callers. Furthermore, PopDel’s running time is competitive with the fastest tested previous tools. The demonstrated scalability and accuracy of PopDel enables routine scans for deletions in large-scale sequencing studies

Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesMultiple sclerosis (MS) is an autoimmune disease with both genetic and environmental risk factors. Recent studies indicate that childhood and adolescent obesity double the risk of MS, but this association may reflect unmeasured confounders rather than causal effects of obesity. We used separate-sample Mendelian randomization to estimate the causal effect of body mass index (BMI) on susceptibility to MS. Using data from non-Hispanic white members of the Kaiser Permanente Medical Care Plan of Northern California (KPNC) (2006-2014; 1,104 cases of MS and 10,536 controls) and a replication data set from Sweden (the Epidemiological Investigation of MS (EIMS) and the Genes and Environment in MS (GEMS) studies, 2005-2013; 5,133 MS cases and 4,718 controls), we constructed a weighted genetic risk score using 97 variants previously established to predict BMI. Results were adjusted for birth year, sex, education, smoking status, ancestry, and genetic predictors of MS. Estimates in KPNC and Swedish data sets suggested that higher genetically induced BMI predicted greater susceptibility to MS (odds ratio = 1.13, 95% confidence interval: 1.04, 1.22 for the KPNC sample; odds ratio = 1.09, 95% confidence interval: 1.03, 1.15 for the Swedish sample). Although the mechanism remains unclear, to our knowledge, these findings support a causal effect of increased BMI on susceptibility to MS for the first time, and they suggest a role for inflammatory pathways that characterize both obesity and the MS disease process.National Institute of Neurological Disorders and Stroke National Institute of Allergy and Infectious Diseases Robert Wood Johnson Foundation Wayne and Gladys Valley Foundation Ellison Medical Foundation AFA Foundation Knut and Alice Wallenberg Foundation Swedish Brain Foundation Margareta af Ugglas Foundation European Union Seventh Framework Programme NEURINOX Swedish Medical Research Council Swedish Research Council for Health, Working Life, and Welfare Biogen Inc Merck Serono Teva Neuroscience Sanofi Novartis Bayer Schering Pharma Swedish Research Council Swedish Childhood Diabetes Foundation Neurologiskt Handikappades Riksforbund Foundation Genzyme Merck Bioge

The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1

BACKRGROUND: The Norwegian Mother, Father, and Child Cohort Study (MoBa) is a population-based pregnancy cohort, which includes approximately 114,500 children, 95,200 mothers, and 75,200 fathers. Genotyping of MoBa has been conducted through multiple research projects, spanning several years; using varying selection criteria, genotyping arrays, and genotyping centres. MoBa contains numerous interrelated families, which necessitated the implementation of a family-based quality control (QC) pipeline that verifies and accounts for diverse types of relatedness. METHODS: The MoBaPsychGen pipeline, comprising pre-imputation QC, phasing, imputation, and post-imputation QC, was developed based on current best-practice protocols and implemented to account for the complex structure of the MoBa genotype data. The pipeline includes QC on both single nucleotide polymorphism (SNP) and individual level. Phasing and imputation were performed using the publicly available Haplotype Reference Consortium release 1.1 panel as a reference. Information from the Medical Birth Registry of Norway and MoBa questionnaires were used to identify biological sex, year of birth, reported parent-offspring (PO) relationships, and multiple births (only available in the offspring generation). RESULTS: In total, 207,569 unique individuals (90% of the unique individuals included in the study) and 6,981,748 SNPs passed the MoBaPsychGen pipeline. The relatedness checks performed throughout the pipeline allowed identification of within-generation and across-generation first-degree, second-degree, and third-degree relatives. The individuals passing post-imputation QC comprised 64,471 families ranging in size from singletons to 84 unique individuals (singletons are included as families as other family members may not have been genotyped, imputed, or passed post-imputation QC). The relationships identified include 287 monozygotic twin pairs, 22,884 full siblings, 117,004 PO pairs, 23,299 second-degree relative pairs, and 10,828 third-degree relative pairs. DISCUSSION: MoBa contains a highly complex relatedness structure, with a variety of family structures including singletons, PO duos, full (mother, father, child) PO trios, nuclear families, blended families, and extended families. The availability of robustly quality-controlled genetic data for such a large cohort with a unique extended family structure will allow many novel research questions to be addressed. Furthermore, the MoBaPsychGen pipeline has potential utility in similar cohorts

Effect of booster vaccination against Delta and Omicron SARS-CoV-2 variants in Iceland

Publisher Copyright: © 2022, The Author(s).By the end of July 2021, the majority of the Icelandic population had received vaccination against COVID-19. In mid-July a wave of SARS-CoV-2 infections, dominated by the Delta variant, spread through the population, followed by an Omicron wave in December. A booster vaccination campaign was initiated to curb the spread of the virus. We estimate the risk of infection for different vaccine combinations using vaccination data from 276,028 persons and 963,557 qPCR tests for 277,687 persons. We measure anti-Spike-RBD antibody levels and ACE2-Spike binding inhibitory activity in 371 persons who received one of four recommended vaccination schedules with or without an mRNA vaccine booster. Overall, we find different antibody levels and inhibitory activity in recommended vaccination schedules, reflected in the observed risk of SARS-CoV-2 infections. We observe an increased protection following mRNA boosters, against both Omicron and Delta variant infections, although BNT162b2 boosters provide greater protection against Omicron than mRNA-1273 boosters.Peer reviewe

A sequence variant associating with educational attainment also affects childhood cognition

Only a few common variants in the sequence of the genome have been shown to impact cognitive traits. Here we demonstrate that polygenic scores of educational attainment predict specific aspects of childhood cognition, as measured with IQ. Recently, three sequence variants were shown to associate with educational attainment, a confluence phenotype of genetic and environmental factors contributing to academic success. We show that one of these variants associating with educational attainment, rs4851266-T, also associates with Verbal IQ in dyslexic children (P=4.3 x 10(-4), beta=0.16 s.d.). The effect of 0.16 s.d. corresponds to 1.4 IQ points for heterozygotes and 2.8 IQ points for homozygotes. We verified this association in independent samples consisting of adults (P=8.3 x 10(-5), beta=0.12 s.d., combined P=2.2 x 10(-7), beta=0.14 s.d.). Childhood cognition is unlikely to be affected by education attained later in life, and the variant explains a greater fraction of the variance in verbal IQ than in educational attainment (0.7% vs 0.12%,. P=1.0 x 10(-5))