The EPI Manual: Guide to surveillance, investigations, and reporting, January 2014

A reference for all health care providers at the time of a suspected case, a particular disease or condition, or at the time of an outbreak of a communicable disease to institute public health prevention and control measures.

EPI Update, January 1, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, January 8, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

ALRET: EPI Update, January 13, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, January 15, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, January 22, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

Proteoglycans (PGs) are a major component of the extracellular matrix in many tissues and function as structural and regulatory molecules. PGs are composed of core proteins and glycosaminoglycan (GAG) side chains. The biosynthesis of GAGs starts with the linker region that consists of four sugar residues and is followed by repeating disaccharide units. By exome sequencing, we found that B3GALT6 encoding an enzyme involved in the biosynthesis of the GAG linker region is responsible for a severe skeletal dysplasia, spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1). B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from seven families. In a subsequent candidate gene study based on the phenotypic similarity, we found that B3GALT6 is also responsible for a connective tissue disease, Ehlers-Danlos syndrome (progeroid form). Recessive loss-of-function mutations in B3GALT6 result in a spectrum of disorders affecting a broad range of skeletal and connective tissues characterized by lax skin, muscle hypotonia, joint dislocation, and spinal deformity. The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament.

EPI Update, January 29, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, February 5, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, February 12, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, February 19, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, February 26, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

EPI Update, March 4, 2016

Weekly newsletter for Center For Acute Disease Epidemiology of Iowa Department of Public Health.

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.

Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition. A Val279Phe null allele in this gene, that may influence patient eligibility for treatment, is relatively common in East Asians but has not been observed in Europeans. We investigated the existence and functional effects of low frequency alleles in a Western European population by re-sequencing the exons of PLA2G7 in 2000 samples. In all, 19 non-synonymous single-nucleotide polymorphisms (nsSNPs) were found, 14 in fewer than four subjects (minor allele frequency <0.1%). Lp-PLA2 activity was significantly lower in rare nsSNP carriers compared with non-carriers (167.8±63.2 vs 204.6±41.8, P=0.01) and seven variants had enzyme activities consistent with a null allele. The cumulative frequency of these null alleles was 0.25%, so <1 in 10,000 Europeans would be expected to be homozygous, and thus not potentially benefit from treatment with an Lp-PLA2 inhibitor.