Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA188345 | ENA |
REPOSITORIES: ENA
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Project description:Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests - GDMCC 5902
| PRJNA188344 | ENA
Project description:<p>We have established a consortium of 7 geographically-dispersed clinical research sites that are designed to study rare diseases of the airways, which involve defects in clearance of mucus secretions from the airways (defective "mucociliary clearance"). These sites will collaborate in diagnostic, genetic, and other studies in patients with impairments of mucociliary clearance, including primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF), and pseudohypoaldosteronism (PHA). These disorders reflect genetic defects in airway host-defense, and typically result in chronic infection of the airways. Patients with these disorders of the conducting airways and sinuses have delayed (or incorrect) diagnoses, because diagnostic tests are not readily available. These patients may also have sub-optimal management of their clinical disease, because the cause of these disorders is not well-defined, and treatment regimens are usually not driven by evidence-based medicine.</p> <p>This current protocol is designed to employ a systematic approach to the diagnostic evaluation of these patients with chronic airways disease, which will yield precise diagnoses in individual patients, and will be associated with development of better diagnostic techniques, including genetic testing. In addition, we will compare/contrast clinical features (phenotype) across these disorders. A rigorous cross-sectional comparison of the clinical features will provide better understanding of the clinical disease of these disorders; in turn, this will lead not only to a better standard of clinical care, but will also assist in the identification of novel therapeutic approaches.</p> <p>The patient population for these studies includes individuals carrying a tentative diagnosis of the three disorders (PCD, variant CF or PHA), plus individuals suspected to have one of these disorders, but with inadequate or inconclusive diagnostic tests. Individuals in this latter category must have a preliminary clinical evaluation to evaluate for other more common disorders that may have similar manifestations including classical CF, immunodeficiency, asthma, and severe gastroesophageal reflux. We have an informal agreement with a network of pulmonologists across the United States to perform clinically-indicated (not research) preliminary clinical testing, if not directly available to patients who inquire about these studies.</p> <p>Blood will be collected for DNA to test for genetic mutations. The blood samples will be processed to establish a cell line (lymphocyte transformation) for a source of DNA for future genetic studies, in participants with disease. For participants unable to provide a blood sample, a buccal sample will be obtained for DNA.</p>
| phs000595 | dbGaP
Project description:Cross-sectional Characterization of Idiopathic Bronchiectasis - GDMCC 5904
| PRJNA369583 | ENA
Project description:Cross-sectional Characterization of Idiopathic Bronchiectasis - GDMCC 5904
| PRJNA369582 | ENA
Project description:The link between upper and lower airways in patients with both asthma and allergic rhinitis is still poorly understood. As the biological complexity of these disorders can be captured by gene expression profiling we hypothesized that the clinical expression of rhinitis and/or asthma is related to differential gene expression between upper and lower airways epithelium. We used micro array to profile gene expression of primary nasal and bronchial epithelial cells from the same individuals and examining the impact of allergic rhinitis with and without concomitant allergic asthma on expression profiles. 17 subjects were included in a cross-sectional study (6 allergic asthma and allergic rhinitis; 5 allergic rhinitis; 6 healthy controls). RNA was extracted from isolated and cultured epithelial cells from bronchial brushes and nasal biopsies, and analyzed by microarray (Affymetrix U133+ PM Genechip Array).
2013-02-05 | E-GEOD-44037 | biostudies-arrayexpress
Project description:To further unravel the potential molecular mechanisms involved in the loss of muscle function during an acute exacerbation, a cross-sectional microarray study was designed to compare the gene expression profile of the vastus lateralis muscle in patients with an acute COPD exacerbation and in stable COPD patients. Keywords: cross-sectional patient study A cross-sectional microarray study was designed. The microarray screening was performed on a vastus lateralis biopsy obtained from 4 patients with an acute COPD exacerbation and 5 stable COPD patients. No replicates or dye-swaps were included.
2009-03-13 | E-GEOD-10828 | biostudies-arrayexpress
Project description:Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of developing lymphoproliferative disorders, mainly non-Hodgkin lymphoma (NHL) and acute lymphoblastic leukemia (ALL). This work presents a patient previously diagnosed with Nijmegen breakage syndrome who rapidly developed T-NHL despite of constant medical supervision. Cytogenetic karyotype and microarray tests revealed complex aberrations, indicating enhanced chromosomal instability.
2020-04-07 | GSE148229 | GEO
Project description:Interventions: uracil breath test (once off test), thymine assay of saliva, blood and urine, genetic analysis of blood. The testing will be completed over 2 days once informed consent is signed. These tests are not standard practice. The testing will be done on patient who exeprienced 5FU toxicity up to 1 year ago.
Primary outcome(s): To determine the proportion of patients with severe 5FU toxicity have (a) abnormal Uracil breath test results and (b) abnormal thymine loading tests in saliva and urine[12 months post testing]
Study Design: Purpose: Screening;Duration: Cross-sectional;Selection: Case control;Timing: Retrospective
| 2453982 | ecrin-mdr-crc
Project description:To further unravel the potential molecular mechanisms involved in the loss of muscle function during an acute exacerbation, a cross-sectional microarray study was designed to compare the gene expression profile of the vastus lateralis muscle in patients with an acute COPD exacerbation and in stable COPD patients. Keywords: cross-sectional patient study
2009-03-14 | GSE10828 | GEO