Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy.

Introduction: Newborn screening for Duchenne muscular dystrophy can be performed via a first-tier creatine kinase-MM measurement followed by reflex testing to second-tier molecular analysis of the DMD gene. In order to establish appropriate cut-offs for the creatine kinase-MM screen, factors that influence creatine kinase-MM in newborns were investigated.

Materials And Methods: Creatine kinase-MM data from a consented pilot study in New York State were collected over a two-year period and combined with de-identified validation data and analyzed.

The possible role of arsenic and gene-arsenic interactions in susceptibility to breast cancer: a systematic review.

The roles of many environmental contaminants in increasing breast cancer risk remain controversial. Arsenic (As) is a major global environmental contaminant and carcinogen. We conducted a systematic review of the role of As and gene-arsenic interactions in susceptibility to breast cancer.

Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer.

Up to 30% of all breast cancer cases may be inherited and up to 85% of those may be due to segregation of susceptibility genes with low and moderate risk [odds ratios (OR) ≤ 3] for (mostly peri- and post-menopausal) breast cancer. The majority of low/moderate-risk genes, particularly those with minor allele frequencies (MAF) of < 30%, have not been identified and/or validated due to limitations of conventional association testing approaches, which include the agnostic nature of Genome Wide Association Studies (GWAS). To overcome these limitations, we used a hypothesis-driven integrative genomics approach to test the association of breast cancer with candidate genes by analyzing multi-omics data.

Incidence of cutaneous malignant melanoma in Iranian provinces and American states matched on ultraviolet radiation exposure: an ecologic study.

Objectives: Ultraviolet radiation (UVR), with UVB and UVA as the relevant components, is a risk factor for melanoma. Complete ascertainment and registration of melanoma in Iran was conducted in five provinces (Ardabil, Golestan, Mazandaran, Gilan and Kerman) during 1996-2000. The aim of our study was to compare population-based incidence data from these provinces with rates in the United States (US) while standardizing ambient UVR.