Project description:<p>This GDMCC protocol will study adult patients with non-CF, idiopathic bronchiectasis, whose genetic etiologies are not known. Idiopathic bronchiectasis is reportedly more common in females with certain tall, thin body types and associated with environmental organisms, such as nontuberculous mycobacterium (NTM). The other susceptibility factors predisposing to bronchiectasis or acquisition of NTM are unclear. The study will attempt to broaden the understanding of this disease by comparing gender-associated factors and NTM status. A relatively equal number of both females/males and NTM/non-NTM infected subjects will be enrolled. Approximately 300 people may be screened to find 260 eligible subjects, since a small number (e.g., 40 patients) may be diagnosed with PCD, vCF, or other known etiology as an explanation for the bronchiectasis.</p> <p>This single-visit protocol will use a systematic approach to characterize the physical features, radiographic patterns, and associated lower airway microbial flora. There is no natural history of disease course follow-up component to this protocol. Participants will have one outpatient clinic visit for evaluation with a physical examination including detailed body size measurements, medical history, collection of blood samples for routine lab tests and genetic analyses, and a chest X-ray if no recent one is available. Participants will also have tests of lung function, and measurement of a gas called nitric oxide in the nose. Participants whose initial tests show abnormal results may also be asked to have a nasal scrape to collect cell samples and/or a skin sweat test to measure salt concentrations. Participants will also have a sputum specimen collected during the visit and will be asked to collect two additional early morning sputum samples and a mouth rinse at home within 2 weeks of the clinic visit, and mail the sample collection materials to the research team.</p> <p>Careful evaluation and characterization of the physical and clinical characteristics will guide the genetic characterization of idiopathic bronchiectasis, and likely lead to an improved diagnostic approach. Identification of disease causing genes may provide new therapeutic targets.</p>
Project description:Low-grade, chronic inflammation during ageing (“inflammageing”) is suggested to be involved in the development of frailty in older age. However, studies on the association between frailty, using the frailty index definition, and inflammatory markers are limited. The aim of this study was to investigate the relationship between inflammatory markers and frailty index (FI) in older, home-dwelling adults. Home-dwelling men and women aged ≥ 70 years old, living in South-East Norway were recruited and included in a cross-sectional study. The FI used in the current study was developed according to Rockwood’s frailty index and included 38 variables, resulting in an FI score between 0 and 1 for each participant. Circulating inflammatory markers (IL-6, CRP, IGF-1, cystatin C, cathepsin S, and glycoprotein Acetyls) were analyzed from non-fasting blood samples using ELISA. Whole-genome PBMC transcriptomics was used to study the association between FI score and inflammation. The present study was a cross-sectional study that included home-dwelling men and women aged ≥ 70 years old, living in the Skedsmo area, South-East Norway. The study was conducted in 2014/2015 and has been described previously [Ottestad I, Ulven SM, Øyri LKL, Sandvei KS, Gjevestad GO, Bye A, et al. Reduced plasma concentration of branched-chain amino acids in sarcopenic older subjects: a cross-sectional study. Br J Nutr. 2018;120(4):445-53]. The participants were recruited by the National Register and received an invitation letter by mail. Briefly, a total of 2820 subjects were invited, and 437 subjects participated in the study. The participants met for a single study visit, and data was collected on dietary intake, body weight and composition, physical performance, medical history, cognitive function, risk of malnutrition, anthropometric measurements, blood pressure, heart rate, and quality of life. Non-fasting blood samples were also collected.
Project description:A collection of cross sectional sputum samples and some longitudinal from adult patients at the UCSD adult CF center. These samples were extracted in both ethyl actetate/methanol and in 80% ethanol.
Project description:Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests - GDMCC 5902
Project description:The study consists of three parts: 1) normal aging in liver and skin (cross-sectional); 2) treatment with rotenone in brain, liver and skin; 3) longitudinal study of 45 fish with different ages at their death measured at two different time points by fin clipping Jena Centre for Systems Biology of Ageing - JenAge (www.jenage.de)
Project description:In a cross-sectional approach, we analyzed the influence of age, sex, body mass index (BMI), smoking, and education on salivary protein signatures in whole saliva samples of 187 individuals. Subjects were randomly selected from the population-based Study of Health in Pomerania (SHIP-Trend).