Dataset Information

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

ABSTRACT: We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research. We make it easy for patients to contribute to research for medical conditions that matter most to them, regardless of their location or ability to travel.

DISEASE(S): Dermatitis, Atopic,Nephritis,Trisomy,All Diagnosed Health Conditions,Colorectal Cancer,Sickle Cell Trait,Sjogren's Syndrome,Dermatitis,Ankylosing Spondylitis,Multiple Sclerosis,Hepatitis,Colon Cancer,Lupus Erythematosus, Systemic,Purpura, Thrombocytopenic,Duchenne Muscular Dystrophy,Systemic Lupus Erythematosus,Kidney Neoplasms,Chronic Kidney Diseases,Pancreatic Cancer,Asthma,Telangiectasis,Muscular Dystrophies,Myositis,Colitis,Kidney Cancer,Muscular Dystrophy, Facioscapulohumeral,Purpura, Thrombocytopenic, Idiopathic,Chronic Inflammatory Demyelinating Polyneuropathy,Idiopathic Thrombocytopenic Purpura,Anemia, Sickle Cell,Huntington’s Disease,Lung Cancer,Beta Thalassemia,Leukemia,Arthritis,Hereditary Hemorrhagic Telangiectasia,Ovarian Cancer,Atrophy,Prostatic Neoplasms,Spondylitis, Ankylosing,Psoriatic Arthritis,Scleroderma, Diffuse,Rosacea,Cystic Fibrosis,Polycystic Kidney Diseases,Pulmonary Disease, Chronic Obstructive,Diabetes Mellitus,Parkinson Disease,Bipolar Disorder,Anxiety Disorders,Arthritis, Psoriatic,Purpura,Telangiectasia, Hereditary Hemorrhagic,Glucosephosphate Dehydrogenase Deficiency,Chronic Obstructive Pulmonary Disease,Lung Diseases,Crohn’s Disease,Huntington Disease,Lung Diseases, Obstructive,Kidney Diseases,Polyneuropathies,Trisomy 21,Down Syndrome,Sickle Cell Anemia,Muscular Atrophy, Spinal,Facioscapulohumeral Muscular Dystrophy,Ulcerative Colitis,Acquired Immunodeficiency Syndrome,Carcinoma, Renal Cell,Multiple Myeloma,Renal Insufficiency, Chronic,Cervical Cancer,Melanoma,General Anxiety Disorder,Endometriosis,Add/adhd,Hiv Infections,Parkinson's Disease,Spondylitis,Alopecia,Scleroderma, Systemic,Skin Neoplasms,Human Papilloma Virus,Polyradiculoneuropathy, Chronic Inflammatory Demyelinating,Uterine Cervical Neoplasms,Muscular Atrophy,Epilepsy,Crohn Disease,Spinal Muscular Atrophy,Skin Cancer,Eczema,Celiac Disease,Parkinson’s Disease,Colorectal Neoplasms,G6pd Deficiency,Thrombotic Thrombocytopenic Purpura,Ovarian Neoplasms,Scleroderma,Pancreatic Neoplasms,Atopic Dermatitis Eczema,Purpura, Thrombotic Thrombocytopenic,Colitis, Ulcerative,Psoriasis,Alopecia Areata,Myotonic Dystrophy,Thalassemia,Depression,Beta-thalassemia,Lymphoma,Breast Cancer,Crohn's Disease,Hiv/aids,Huntington's Disease,Insomnia,Lupus Nephritis,Spondylarthritis,Papilloma,Prostate Cancer,Muscular Dystrophy, Duchenne,Colonic Neoplasms,Hepatitis B

PROVIDER: 2150773 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR

ACCESS DATA

Similar Datasets

Project description:BackgroundInfiltration of the lower respiratory tract (LRT) microenvironment could be significantly associated with respiratory diseases. However, alterations in the LRT microbiome and metabolome in infectious and inflammatory respiratory diseases and their correlation with inflammation still need to be explored.MethodsBronchoalveolar lavage samples from 44 community-acquired pneumonia (CAP) patients, 29 connective tissue disease-associated interstitial disease (CTD-ILD) patients, and 30 healthy volunteers were used to detect microbiota and metabolites through 16S rRNA gene sequencing and untargeted high-performance liquid chromatography with mass spectrometry.ResultsThe composition of the LRT microbial communities and metabolites differed in disease states. CAP patients showed a significantly low abundance and both diseases presented a depletion of some genera of the phylum Bacteroidetes, including Prevotella, Porphyromonas, and health-associated metabolites, such as sphingosine (d16:1), which were negatively correlated with infectious indicators. In contrast, Bacillus and Mycoplasma were both enriched in the disease groups. Streptococcus was specifically increased in CTD-ILD. In addition, co-elevated metabolites such as FA (22:4) and pyruvic acid represented hypoxia and inflammation in the diseases. Significantly increased levels of amino acids and succinate, as well as decreased itaconic acid levels, were observed in CAP patients, whereas CTD-ILD patients showed only a handful of specific metabolic alterations. Functions related to microbial lipid and amino acid metabolism were significantly altered, indicating the possible contributions of microbial metabolism. Dual omics analysis showed a moderate positive correlation between the microbiome and metabolome. The levels of L-isoleucine and L-arginine were negatively correlated with Streptococcus, and itaconic acid positively correlated with Streptococcus.ConclusionIn the LRT microenvironment, shared and specific alterations occurred in CAP and CTD-ILD patients, which were associated with inflammatory and immune reactions, which may provide a new direction for future studies aiming to elucidate the mechanism, improve the diagnosis, and develop therapies for different respiratory diseases.

Project description:Objective: Infectious illness, including lower respiratory tract infection (LRTI), is a leading cause of childhood morbidity and infant mortality in Inuit children in Nunavut Canada. The carnitine palmitoyltransferase 1A (CPT1A) p.P479L variant is common in arctic Indigenous populations of Alaska, Canada, and Greenland. CPT1A is a fatty acid oxidation enzyme expressed in the liver, immunocytes and other tissues, and is needed to use fats for energy during fasting. Previous association of the variant with early childhood infectious illness and infant death has been challenged because of sample size and limited adjustment for confounders. We evaluated whether the p.P479L variant is associated with infectious illness in Inuit children of Nunavut, Canada. Methods: We conducted a retrospective clinical chart review of 2,225 Inuit children (0-5 years) for infectious illness (including otitis media, gastroenteritis, and hospital admission for LRTI), prenatal, perinatal, and socioeconomic indicators, subsequently linking to CPT1A genotype. Multivariable logistic regression adjusted for birth characteristics, breastfeeding, maternal smoking, food insecurity, and socioeconomic indicators. Results: Overall, 27% of children were hospitalized for LRTI, 86% had otitis media and 50% had gastroenteritis. The p.P479L allele frequency was 0.82. In multivariable analysis, p.P479L homozygosity was associated with LRTI admission (aOR:2.88 95%CI:1.46-5.64), otitis media (aOR:1.83, 95%CI:1.05-3.21), and gastroenteritis (aOR:1.74, 95%CI:1.09-2.77), compared to non-carriers. Conclusion: Children homozygous for the p.P479L variant were more likely to experience infectious illness than non-carriers, including hospitalization for respiratory tract infections. Given the role of CPT1A in immunocytes, our findings indicate that more study is needed to determine if there is a role of the variant in immune response. Continued Inuit involvement is essential when considering next steps.

Dataset Information

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure