Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.

Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia.

Using quality indicators to compare outcomes of permanent cardiac pacemaker implantation among publicly and privately funded patients.

Background: Funding source/insurance status has been associated with disparity in the management and outcomes of cardiovascular disease, with poorer outcomes among disadvantaged groups.

Aim: Using proposed quality indicators for permanent pacemaker (PPM) implantation and administrative data, this study aimed to determine whether quality indicator-based outcomes of PPM implantation were comparable for publicly and privately funded patients within Australia's two-tier health system.

Methods: A population-based cohort study of adults implanted with a PPM between 1995 and 2009 in Western Australia.

Immunogenicity of virosomal adjuvanted trivalent influenza vaccination in allogeneic stem cell transplant recipients.

Background: Influenza vaccination is generally recommended to hematopoietic stem cell transplant (HSCT) recipients. However, the seasonal subunit vaccination response is frequently suboptimal, and alternate more efficient vaccination systems must be examined. We compared the immunogenicity of an adjuvanted virosomal influenza and subunit vaccine in HSCT recipients.

[Prevalence and diversity of emotional abuse and neglect in childhood in Iceland].

Introduction: Parenting styles that include abuse can harm the development of the child's brain with a long or short-term impact on his/her health and behaviour. The scope and diversity of abuse are important determinants, and neglect is one of its most serious manifestations. The aim of the study is to examine the prevalence and diversity of emotional abuse and neglect reported by adult Icelanders in their childhood, and how such experience had influenced their evaluation of their upbringing.

Anorectal human papillomavirus: current concepts.

Increased anorectal human papillomavirus (HPV) infection is related to the recent trends in sexual behavior in both homosexual and heterosexual groups and prevalence of infection with human immunodeficiency virus (HIV). Clinical presentation and natural history depend on the serotype involved. HPV 6 and 11 are found in the benign wart.

Adverse obstetric and perinatal outcomes following treatment of adolescent and young adult cancer: a population-based cohort study.

Objective: To investigate obstetric and perinatal outcomes among female survivors of adolescent and young adult (AYA) cancers and their offspring.

Methods: Using multivariate analysis of statewide linked data, outcomes of all first completed pregnancies (n = 1894) in female survivors of AYA cancer diagnosed in Western Australia during the period 1982-2007 were compared with those among females with no cancer history. Comparison pregnancies were matched by maternal age-group, parity and year of delivery.

Novel X-ray phase-contrast tomography method for quantitative studies of heat induced structural changes in meat.

The objective of this study was to evaluate the use of X-ray phase-contrast tomography combined with 3D image segmentation to investigate the heat induced structural changes in meat. The measurements were performed at the Swiss synchrotron radiation light source using a grating interferometric setup. The non-destructive method allowed the same sample to be measured before and after cooking.

The TORC1/P70S6K and TORC1/4EBP1 signaling pathways have a stronger contribution on skeletal muscle growth than MAPK/ERK in an early vertebrate: Differential involvement of the IGF system and atrogenes.

Knowledge about the underlying mechanisms, particularly the signaling pathways that account for muscle growth in vivo in early vertebrates is still scarce. Fish (Paralichthys adspersus) were fasted for 3weeks to induce a catabolic period of strong muscle atrophy. Subsequently, fish were refed for 2weeks to induce compensatory muscle hypertrophy.

[Work injuries of 13-17-year-old Icelanders: causes and consequences].

Introduction: The aim of the research is to investigate work injuries among 13-17-year-old teenagers in Iceland, their causes and seriousness. Firstly, the prevalence of work injuries among the age-group is examined, as is the length of their absence from work, as well as the gender and age differences of both factors. Secondly, the type and the cause of the injuries are investigated.

Sexually transmitted infections of the anus and rectum.

Sexually transmitted infections (STIs) represent a significant public health concern. Several STIs, once thought to be on the verge of extinction, have recently reemerged. This change is thought to be partially related to an increase in STIs of the anus and rectum.

Hospital admissions and gestational age at birth: 18 years of follow up in Western Australia.

Background: Infants born moderate to late preterm are twice as likely to be rehospitalised within the first few weeks following discharge from the birth admission. It is not understood how rehospitalisation risk changes with age or how risks have changed over time.

Methods: A retrospective birth cohort study of all live, singleton births in Western Australia 1 January 1980-31 December 2010, without congenital anomalies, followed to 18 years of age.

Long-term follow-up and liver-related death rate in patients with non-alcoholic and alcoholic related fatty liver disease.

Background: Few studies have compared the prognosis and liver-related mortality in patients with NAFLD (nonalcoholic fatty liver disease) and AFLD (alcoholic fatty liver disease). We aimed to investigate the etiology and liver-related mortality of patients with liver biopsy verified fatty liver disease in a population based setting.

Methods: In this retrospective study, all patients who underwent a liver biopsy 1984-2009 at the National University Hospital of Iceland were identified through a computerized pathological database with the code for fatty liver.

On the perplexingly low rate of transport of IgG2 across the human placenta.

The neonatal receptor, FcRn, mediates both serum half-life extension as well as active transport of maternal IgG to the fetus during pregnancy. Therefore, transport efficiency and half-life go hand-in-hand. However, while the half-life of the human IgG2 subclass is comparable to IgG1, the placental transport of IgG2 is not, with the neonatal IgG1 levels generally exceeding maternal levels at birth, but not for IgG2.

Outcomes after first percutaneous coronary intervention for acute myocardial infarction according to patient funding source.

Background: Disparities in the use of invasive coronary artery revascularisation procedures to manage acute myocardial infarction (AMI) have been found in several developed economies. Factors such as socio-economic status, income and funding source may influence the use of invasive procedures and have also been associated with ongoing care. The objectives of this study were to determine whether outcomes for patients at one and five years after AMI treated with first-ever percutaneous coronary intervention (PCI) were the same for public and privately funded patients.

Melanoma patient-derived xenografts accurately model the disease and develop fast enough to guide treatment decisions.

The development of novel therapies against melanoma would benefit from individualized tumor models to ensure the rapid and accurate identification of biomarkers of therapy response. Previous studies have suggested that patient-derived xenografts (PDXes) could be useful. However, the utility of PDXes in guiding real-time treatment decisions has only been reported in anecdotal forms.

Plasma growth hormone-binding protein levels in Atlantic salmon Salmo salar during smoltification and seawater transfer.

Specific growth hormone (GH)-binding protein (Ghbp) was purified from Atlantic salmon Salmo salar and rainbow trout Oncorhynchus mykiss plasma with immunoprecipitation and characterized in cross-linking studies using autoradiography and western blots. The size of the Ghbp was estimated to be c. 53 kDa.

Risk of drug-induced liver injury from tumor necrosis factor antagonists.

Background & Aims: Antagonists of tumor necrosis factor (anti-TNF agents) can cause drug-induced liver injury (DILI), yet little is known about the level of risk.

Methods: We identified cases of DILI caused by anti-TNF agents in Iceland, from 2009 through 2013, at the National University Hospital of Iceland (n = 11). We collected data on the total use of the drugs by patients with DILI, and outcomes, compared with patients who received anti-TNF agents but who did not develop DILI (controls, n = 22).

Kinetics and intermediates of the reaction of fully reduced Escherichia coli bo₃ ubiquinol oxidase with O₂.

Cytochrome bo₃ ubiquinol oxidase from Escherichia coli catalyzes the reduction of O₂ to water by ubiquinol. The reaction mechanism and the role of ubiquinol continue to be a subject of discussion. In this study, we report a detailed kinetic scheme of the reaction of cytochrome bo₃ with O₂ with steps specific to ubiquinol.

The pathway of O₂to the active site in heme-copper oxidases.

The route of O₂to and from the high-spin heme in heme-copper oxidases has generally been believed to emulate that of carbon monoxide (CO). Time-resolved and stationary infrared experiments in our laboratories of the fully reduced CO-bound enzymes, as well as transient optical absorption saturation kinetics studies as a function of CO pressure, have provided strong support for CO binding to CuB⁺ on the pathway to and from the high-spin heme. The presence of CO on CuB⁺ suggests that O₂binding may be compromised in CO flow-flash experiments.

Conserved glycine 232 in the ligand channel of ba3 cytochrome oxidase from Thermus thermophilus.

Knowing how the protein environment modulates ligand pathways and redox centers in the respiratory heme-copper oxidases is fundamental for understanding the relationship between the structure and function of these enzymes. In this study, we investigated the reactions of O2 and NO with the fully reduced G232V mutant of ba3 cytochrome c oxidase from Thermus thermophilus (Tt ba3) in which a conserved glycine residue in the O2 channel of the enzyme was replaced with a bulkier valine residue. Previous studies of the homologous mutant of Rhodobacter sphaeroides aa3 cytochrome c oxidase suggested that the valine completely blocked the access of O2 to the active site [Salomonsson, L.

MTH1 inhibition eradicates cancer by preventing sanitation of the dNTP pool.

Cancers have dysfunctional redox regulation resulting in reactive oxygen species production, damaging both DNA and free dNTPs. The MTH1 protein sanitizes oxidized dNTP pools to prevent incorporation of damaged bases during DNA replication. Although MTH1 is non-essential in normal cells, we show that cancer cells require MTH1 activity to avoid incorporation of oxidized dNTPs, resulting in DNA damage and cell death.

[Colorectal cancer - review].

Colorectal cancer is the third most common cancer in the Western hemisphere and the incidence increases with increasing age. Most colorectal cancers are localized with or without lymph node metastases. Up to 20% of patients present with metastatic disease, most commonly to the liver.

Hip fractures and bone mineral density in the elderly--importance of serum 25-hydroxyvitamin D.

Background: The significance of serum 25-hydroxyvitamin D [25(OH)D] concentrations for hip fracture risk of the elderly is still uncertain. Difficulties reaching both frail and healthy elderly people in randomized controlled trials or large cohort studies may in part explain discordant findings. We determined hazard ratios for hip fractures of elderly men and women related to serum 25(OH)D, including both the frail and the healthy segment of the elderly population.