Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood.

Background: Alpha-fetoprotein (AFP), cancer antigens 15.3, 19.9, and 125, carcinoembryonic antigen, and alkaline phosphatase (ALP) are widely measured in attempts to detect cancer and to monitor treatment response.

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.

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.

A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported previously. Using polygenic risk scores based on public summary statistics of variants outside the major histocompatibility complex region we quantified genetic overlap between common autoimmune diseases in Icelanders and identified disease clusters characterized by autoantibody presence/absence. As multiple sclerosis-polygenic risk scores captures the risk of primary biliary cirrhosis and vice versa ( = 1.

Outcomes of biliary atresia in the Nordic countries - a multicenter study of 158 patients during 2005-2016.

Background/purpose: Biliary atresia is the most common reason for newborn cholestasis and pediatric liver transplantation. Even after normalization of serum bilirubin after portoenterostomy, most patients require liver transplantation by adulthood due to expanding fibrosis. We addressed contemporary outcomes of biliary atresia in the Nordic countries.

Incidence of inflammatory bowel disease in Iceland 1995 - 2009. A nationwide population-based study.

Objective: We analyzed the incidence of inflammatory bowel disease (IBD) in Iceland for the period 1995-2009.

Material And Methods: New cases of ulcerative colitis (UC) and Crohn's disease (CD) were retrieved by thorough review of all small and large intestinal pathology reports with any type of inflammation from all the pathology departments in Iceland for the period 1995-2009. All suspicious new cases of IBD were then scrutinized retrospectively by examination of their clinical records.

Inflammatory bowel disease in Icelandic children 1951-2010. Population-based study involving one nation over six decades.

AIM AND BACKGROUND. We describe the changes in incidence and disease location of inflammatory bowel disease (IBD) in children in one country over six decades. Iceland is an island with centralized health information.

[Rickets in a child].

Vitamin D is necessary for normal bone growth. Deficiency of vitamin D can lead to rickets in children and osteomalacia in adults. It is difficult to reach the recommended daily dose of vitamin D in children without cod liver oil or other vitamin D supplementation.

A common genetic background for inflammatory bowel disease and ankylosing spondylitis: a genealogic study in Iceland.

Objective: Patients with ankylosing spondylitis (AS) and approximately 50% of their first-degree relatives may have a genetic abnormality that results in subclinical intestinal inflammation. This study was undertaken to examine the familial occurrence and cosegregation of AS and inflammatory bowel disease (IBD) in order to determine whether there is a shared genetic risk factor in families.

Methods: The Icelandic genealogy database and population-wide data on all living Icelanders diagnosed as having AS (n = 205) and/or IBD (n = 1,352) were used to estimate the risk ratios of AS for relatives of patients with AS, the risk ratios of IBD for relatives of patients with IBD, and the cross-risk ratios of AS for relatives of patients with IBD or of IBD for relatives of patients with AS.

A genetic contribution to inflammatory bowel disease in Iceland: a genealogic approach.

Background And Aims: Both genetic and environmental factors play a role in the development of Crohn's disease (CD) and ulcerative colitis (UC), collectively known as inflammatory bowel disease (IBD). The aim of this study was to estimate the genetic component in IBD in Iceland.

Methods: A population-based sample, representing everyone diagnosed with IBD in Iceland from 1950 to 1996, was studied using a computerized population-wide genealogic database.

Collagenous and lymphocytic colitis in Iceland.

The aim of this study was to determine the nationwide incidence of collagenous and lymphocytic colitis in Iceland and the location of histopathological changes in the large bowel. All pathology reports of patients diagnosed with or suspected of having collagenous colitis or lymphocytic colitis in the period 1995-1999 were identified. All pathology samples were reevaluated using strict diagnostic criteria.