Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases

The genetic basis of autoantibody production is largely unknown outside of associations located in the major histocompatibility complex (MHC) human leukocyte antigen (HLA) region. The aim of this study is the discovery of new genetic associations with autoantibody positivity using genome-wide association scan single nucleotide polymorphism (SNP) data in type 1 diabetes (T1D) patients with autoantibody measurements. We measured two anti-islet autoantibodies, glutamate decarboxylase (GADA, n = 2,506), insulinoma-associated antigen 2 (IA-2A, n = 2,498), antibodies to the autoimmune thyroid (Graves') disease (AITD) autoantigen thyroid peroxidase (TPOA, n = 8,300), and antibodies against gastric parietal cells (PCA, n = 4,328) that are associated with autoimmune gastritis. Two loci passed a stringent genome-wide significance level (p<10(-10)): 1q23/FCRL3 with IA-2A and 9q34/ABO with PCA. Eleven of 52 non-MHC T1D loci showed evidence of association with at least one autoantibody at a false discovery rate of 16%: 16p11/IL27-IA-2A, 2q24/IFIH1-IA-2A and PCA, 2q32/STAT4-TPOA, 10p15/IL2RA-GADA, 6q15/BACH2-TPOA, 21q22/UBASH3A-TPOA, 1p13/PTPN22-TPOA, 2q33/CTLA4-TPOA, 4q27/IL2/TPOA, 15q14/RASGRP1/TPOA, and 12q24/SH2B3-GADA and TPOA. Analysis of the TPOA-associated loci in 2,477 cases with Graves' disease identified two new AITD loci (BACH2 and UBASH3A)

A model to integrate patient preferences into delivery systems: the importance of end-user input into pulmonary delivery

Asthma is a public health problem estimated to affect approximately 334 million people worldwide. A significant amount of those affected with asthma are children. Asthma is a chronic disease that is characterized by inflammation and constriction of the airways, leading to breathing difficulties. It is estimated that in the USA alone, the direct cost for asthma in both adults and children was more than $56 billion annually in 2007 and is responsible for reduced quality of life. Asthma cannot be cured, but it can be controlled by medication. The most common and efficacious medications to treat asthma are delivered in aerosol form via nebulizer inhaler devices, which include pressurized metered-dose inhalers and dry-powder inhalers (DPIs). Unlike many oral dosage forms, inhaler compliance is composed of two independent components, temporal adherence and inhaler technique, of which much research has focused on temporal adherence due to limited methods available to monitor longitudinally. For this reason, the aim of this editorial is to describe problems with inhaler technique from published literature as well as propose a new method of integrating patients into the therapeutic delivery research process to reduce patient error, which may improve asthma outcomes

The ARTEMIS under-ice AUV docking system

© 2017 Wiley Periodicals, Inc. The ARTEMIS docking system demonstrates autonomous docking capability applicable to robotic exploration of sub-ice oceans and sub-glacial lakes on planetary bodies, as well as here on Earth. In these applications, melted or drilled vertical access shafts restrict vehicle geometry as well as the in-water infrastructure that may be deployed. The ability of the vehicle to return reliably and precisely to the access point is critical for data return, battery charging, and/or vehicle recovery. This paper presents the mechanical, sensor, and software components that make up the ARTEMIS docking system, as well as results from field deployment of the system to McMurdo Sound, Antarctica in the austral spring of 2015. The mechanical design of the system allows the vehicle to approach the dock from any direction and to pitch up after docking for recovery through a vertical access shaft. It uses only a small volume of in-water equipment and may be deployed through a narrow vertical access shaft. The software of the system reduces position estimation error with a hierarchical combination of dead reckoning, acoustic aiding, and machine vision. The system provides critical operational robustness, enabling the vehicle to return autonomously and precisely to the access shaft and latch to the dock with no operator input