Risk of diagnosed fractures in children with inflammatory bowel diseases:

Decreased bone mass is common in children with inflammatory bowel diseases (IBD); however, fracture risk is unknown. We sought to evaluate fracture risk in children with IBD as compared to unaffected controls and determine whether this risk is affected by geographical region (a proxy for sun/vitamin D exposure) and oral steroid use

Suboptimal Rates of Cervical Testing Among Women With Inflammatory Bowel Disease

Women with inflammatory bowel disease (IBD) have a high incidence of abnormal cervical cytology. However, little is known about how frequently women with IBD are tested for cervical abnormalities. We aimed to determine cervical testing rates among women with IBD, specifically those on immunosuppressant medications, and identify risk factors associated with low incidence of screening

Thiazolidinedione use and ulcerative colitis-related flares: An exploratory analysis of administrative data:

Recent animal studies and clinical trials suggest that thiazolidinediones, a class of oral antidiabetic agents, are efficacious in reducing inflammation, yet no studies have evaluated their effectiveness in preventing flares. We examined the association between thiazolidinedione use and ulcerative colitis (UC)-related flares

Isotretinoin Use and the Risk of Inflammatory Bowel Disease: A Case–Control Study

Isotretinoin is commonly prescribed for the treatment of severe acne. Though cases of inflammatory bowel disease (IBD) have been reported in isotretinoin users, a causal association remains unproven

Diagnostic Ionizing Radiation Exposure in a Population-Based Sample of Children With Inflammatory Bowel Diseases

The degree of diagnostic radiation exposure in children with inflammatory bowel diseases (IBD) is largely unknown. Here we describe this exposure in a population-based sample of children with IBD and determine characteristics associated with moderate radiation exposure

Increased Risk for Non-Melanoma Skin Cancer in Patients With Inflammatory Bowel Disease

Patients with inflammatory bowel disease (IBD) might be at increased risk for certain malignancies. We evaluated the risk of non-melanoma skin cancer (NMSC) in patients with IBD and determined how immunosuppressive and biologic medications affect this risk

Utilization of healthcare resources by U.S. children and adults with inflammatory bowel disease:

The inflammatory bowel diseases (IBDs), Crohn’s disease (CD) and ulcerative colitis (UC) affect over 1 million people in the United States, yet little is known about healthcare utilization by affected individuals

Direct Health Care Costs of Crohn’s Disease and Ulcerative Colitis in United States Children and Adults

Data regarding the health care costs of inflammatory bowel disease (IBD) in the United States are limited

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead