Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome.

Purpose: Universal screening for Lynch syndrome (LS) on resected colorectal carcinomas (CRCs) and endometrial carcinomas (ECs) was implemented in Iceland in 2017 using immunohistochemistry (IHC) for mismatch repair (MMR) proteins. We examined the efficacy of the universal screening algorithm to detect LS and the diagnostic accuracy of MMR IHC by comparing results with a population-based genotype database.

Methods: All patients diagnosed with CRC or EC per the Icelandic Cancer Registry from 2017 to 2019 who had tumor MMR IHC performed were included.

Screen Time and Body Image in Icelandic Adolescents: Sex-Specific Cross-Sectional and Longitudinal Associations.

Studies of adolescent body image and screen use are mostly limited to girls, and longitudinal data are scarce. We examined cross-sectional and longitudinal associations between these variables in mid-adolescent boys and girls. Data was collected when participants were at age 15 and 17, by questionnaire and objective measurements ( = 152 had complete data).

Less physical activity and more varied and disrupted sleep is associated with a less favorable metabolic profile in adolescents.

Background: Sleep and physical activity are modifiable behaviors that play an important role in preventing overweight, obesity, and metabolic health problems. Studies of the association between concurrent objective measures of sleep, physical activity, and metabolic risk factors among adolescents are limited.

Objective: The aim of the study was to examine the association between metabolic risk factors and objectively measured school day physical activity and sleep duration, quality, onset, and variability in adolescents.

Less screen time and more physical activity is associated with more stable sleep patterns among Icelandic adolescents.

Objectives: Emerging evidence suggests that inconsistent sleep may affect physical and psychological health. Thus, it is important to identify modifiable determinants of sleep variability. Screen time and physical activity are both thought to affect sleep, but studies of their relationship to sleep variability using objective measures are lacking.

Longitudinal Change in Adolescent Bedtimes Measured by Self-Report and Actigraphy.

Introduction: Sleep is often quantified using self-report or actigraphy. Self-report is practical and less technically challenging, but prone to bias. We sought to determine whether these methods have comparable sensitivity to measure longitudinal changes in adolescent bedtimes.

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.

Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression of NADPH oxidase's main subunit (gp91) and results in CGD. Analyzing two brothers diagnosed with CGD we identify a homozygous loss-of-function mutation, p.

Different cardiorespiratory fitness expressions based on the maximal cycle ergometer test show no effect on the relation of cardiorespiratory fitness to the academic achievement of nine-year-olds.

The relationship between cardiorespiratory fitness and academic achievement has been inconclusive. The results may depend on how cardiorespiratory fitness is expressed. The aim of this study is to explore the impact of different cardiorespiratory fitness expression methods, measured by the maximal cycle ergometer test, on the relationship between cardiorespiratory fitness and academic achievement.

Above average increases in body fat from 9 to 15 years of age had a negative impact on academic performance, independent of physical activity.

Aim: The associations between body fat levels and physical activity with academic performance are inconclusive and were explored using longitudinal data.

Methods: We enrolled 134/242 adolescents aged 15, who were studied at the age of nine and agreed to be followed up from April to May 2015 for the Health behaviours of Icelandic youth study. Accelerometers measured physical activity, body mass indexes (BMI) were calculated and dual-energy X-ray absorptiometry scans assessed the participants' body composition at nine and 15.

Less screen time and more frequent vigorous physical activity is associated with lower risk of reporting negative mental health symptoms among Icelandic adolescents.

Objective: Few studies have explored the potential interrelated associations of screen time and physical activity with mental health in youth, particularly using objective methods. We examined cross-sectional associations of these variables among Icelandic adolescents, using objective and subjective measurements of physical activity.

Methods: Data were collected in the spring of 2015 from 315 tenth grade students (mean age 15.

[Physical activity and sleep in Icelandic adolescents].

Introduction: Physical activity and sleep are major determinants of overall health. According to international recommendations, adolescents should engage in moderate to vigorous physical activity for at least 60 min each day and sleep eight to ten hours each night. The association between physical activity and sleep in adolescents is not well known.

Cross-sectional study of randomly selected 18-year-old students showed that body mass index was only associated with sleep duration in girls.

Aim: This study investigated the associations, by sex, between sleep and adiposity, dietary habits, cardiorespiratory fitness and metabolic risk in 18-year-old students.

Methods: We carried out a cross-sectional study of 199 randomly chosen, healthy 18-year-old students (53% girls) in Iceland's capital region. The data collection took place in the winter months of 2012 to 2015.

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.

Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance.

Case Presentation: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population.

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

Background: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B).

Organized leisure-time sport participation and academic achievement in preadolescents.

Aims: The aims of this study were to study the correlation between lifestyle-related factors, such as organized leisure-time sport participation (OLSP), cardiorespiratory fitness, and adiposity, and academic achievement among preadolescents.

Methods: A cross-sectional study involving 248 nine-year-old school children was carried out. OLSP was self-reported with parental assistance, categorized as ≤ 1× a week, 2-3× a week, and ≥ 4× times a week or more.

Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009.

Sleep deficiency on school days in Icelandic youth, as assessed by wrist accelerometry.

Aims: The purpose of this study was to objectively measure, with wrist-worn actigraphy, free-living sleeping patterns in Icelandic adolescents, and to compare sleep duration, sleep quality and clock times between school days (SchD) and non-school days (NSchD) and the association between sleep and body mass index (BMI).

Methods: A cross-sectional study on 15.9-year-old (±0.

The Impact of Sport Participation on Bone Mass and Geometry in Male Adolescents.

Purpose: Exercise is an effective approach for developing bone mass and adolescence is a key period to optimize bone health. However, sports-specific training may have different effects on bone outcomes. This study examined the differences on bone outcomes between osteogenic (football) and nonosteogenic (swimming and cycling) sports and a control group in male adolescents.

Health Behavior and Metabolic Risk Factors Associated with Normal Weight Obesity in Adolescents.

Objective: To explore health behaviors and metabolic risk factors in normal weight obese (NWO) adolescents compared with normal weight lean (NWL) peers.

Design And Methods: A cross-sectional study of 18-year-old students (n = 182, 47% female) in the capital area of Iceland, with body mass index within normal range (BMI, 18.5-24.

Physical activity during school and after school among youth with and without intellectual disability.

Background: Little is known about physical activity (PA) among children with intellectual disability (ID) or their reasons to take part in PA and sport.

Aims: To investigate PA and PA patterns during school and after school among Icelandic children with mild-to-severe ID.

Methods And Procedures: Ninety-one children with ID and a matched group of 93 typically developed individuals (TDI) took part.