Fine–mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans,Melanesians and Polynesians

Differentiated thyroid carcinoma (DTC) incidence is characterized by wide ethnic and geographic variations, with high incidence rates observed in Oceanian populations. Genome-wide association studies (GWAS) identified mainly four DTC susceptibility loci at 9q22.33, 14q13.3, 2q35 and 8p12. Here we performed fine-mapping of the 2q35 and 8p12 loci in the population of the EPITHYR consortium that includes Europeans, Melanesians and Polynesians to identify likely causal variants for DTC risk. We conducted a colocalization analysis using eQTLs data to determine the SNPs with the highest probability of causality.At 2q35, we highlighted rs16857609 located in DIRC3. This SNP has a high probability of causality in the three populations, and a significant association in Europeans (OR = 1.4, p = 1.9 x 10^-10). It is also associated with expression of DIRC3 and of the nearby gene IGFBP5 in thyroid tumour cells. At 8p12, we identified rs7844425 which was significantly associated with DTC in Europeans (OR = 1.32, p = 7.6 x 10^-8) and rs2439304, which was highlighted by the colocalization analysis but only moderately associated with DTC in our dataset (OR = 1.2, p = 0.001). These SNPs are linked to the expression of NRG1 in thyroid tissue.Hence, our study identified novel variants at 2q35 and 8p12 to be prioritized for further functional studies.     

Drug-coated balloon in peripheral artery disease

Peripheral artery disease (PAD) is highly prevalent but is often underdiagnosed and undertreated. Lower extremity PAD can often be life style limiting. Revascularization in carefully selected lower extremity PAD patients improves symptoms and functional status. Surgical revascularization used to be the only available strategy, but in the recent years, endovascular strategies have gained popularity due to faster recovery times with low morbidity and mortality rates. Endovascular procedures have increased significantly in the United States in the past few years. That being said, higher restenosis rates and low long-term patency rates have been the limiting factors for this strategy. Drug eluting stents have been introduced to help with lowering restenosis, however lower extremity PAD involves long segment where the outcomes of stents are suboptimal. Also, the disease often crosses joint line that makes it less ideal for the stents. Drug-coated balloons (DCB) have been introduced to improve patency rates following endovascular intervention for lower extremity PAD. They have gained popularity among endovascular specialists due to its ease of use and the concept of “leave nothing behind”. This is a review of scientific evidence supporting DCB use in PAD.     

Influence of aortic stiffness on ventricular function in patients with Fontan circulation

Objective

Elastic properties of the thoracic aorta are responsible for buffering systemic afterload, and may be particularly important in patients with Fontan circulation, in whom heart failure is a major source of attrition. The purpose of this study was to characterize regional stiffness in the ascending and descending aorta in patients with hypoplastic left heart syndrome and single left ventricle morphology after Fontan operation by cardiac magnetic resonance imaging, and to assess whether changes in aortic stiffness are associated with the ventricular function.

New primers reveal the presence of a duplicate histone H3 in the marine turtle leech Ozobranchus branchiatus

Marine leeches, specific to sea turtles, have been implicated as potential vector organisms in the spread of fibropapillomatosis (FP), a pandemic neoplastic disease with Chelonia mydas having the highest affliction rate. Polymerase chain reaction identified two independent, seemingly functional histone H3 loci for marine turtle leeches Ozobranchus branchiatus collected from C.?mydas in Florida and Hawaii. Primers were developed to amplify each product separately. Among the two loci, sequence differentiation (?? _ST ) ranged from 0.161 to 0.182 with identical amino acid translations among the 22 samples. A maximum parsimony tree of GenBank histone H3 sequences from annelids indicated the gene duplication occurred within the Ozobranchidae family. Geographically separated populations yielded ?? _ST values of 0.004?C0.005 but were phylogenetically distinctive. These novel markers will be useful in identifying ectoparasites in FP research, evaluating other histone variants, and chromatin dynamics regulation studies.     

The higher prevalence of developmental defects of enamel in the dioxin-affected region than non-dioxin-affected region: result from a cross-sectional study in Vietnam

Odontology - Developmental defects of enamel (DDE) are induced and regulated by several factors including genetics and the environment. There is evidence showing that dioxin in polluted areas has a...     

Temperature increases by kilohertz frequency spinal cord stimulation

Introduction

Kilohertz frequency spinal cord stimulation (kHz-SCS) deposits significantly more power in tissue compared to SCS at conventional frequencies, reflecting increased duty cycle (pulse compression). We hypothesize kHz-SCS increases local tissue temperature by joule heat, which may influence the clinical outcomes.

Predictive factors for successful peripheral blood stem cell mobilization and collection in children

Factors affecting the success of peripheral blood stem cell collection (SCC) in children are not well characterized. We reviewed 218 stem cell collections among 199 pediatric donors, of which 35 were from healthy sibling donors and 164 were for autologous collections. Successful SCC, defined as a CD34⁺ cell count of ≥2 × 10⁶/kg of recipient weight per intended transplant, occurred in 188 of 199 donors (94%). Ideal SCC defined ≥5 × 10⁶ CD34⁺ cells/kg of recipient per intended transplant, occurred in 147 (74%) patients. Failure of collection occurred in 11 (6%) patients and was significantly associated with an autologous collection for a brain tumor diagnosis (P = .003) and a pre-apheresis peripheral blood (PB) CD34⁺ count <20 × 10⁶ cells/L (P = .002). Ideal SCC was significantly associated with age < 10 years (P = .01) and pre-apheresis PB-CD34⁺ count ≥20 × 10⁶ cells/L (P < .0001). Factors associated with failure of SCC may be identified in advance of the collection procedure allowing appropriate counselling of patients as well as anticipatory guidance for multiple collections or justify the preemptive use of stem cell mobilizing agents.