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Falhas:
ID
45881
Descrição
Principal Investigator: Marlene Rabinovitch, PhD, Cardiovascular Institute and Department of Pediatrics, Genetics, and Medicine, Stanford University School of Medicine, CA, USA MeSH: Pulmonary Arterial Hypertension https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000998 The transcriptome of pulmonary arterial endothelial cells from healthy lungs and from lungs of patients with idiopathic pulmonary arterial hypertension have been analyzed and specific differences in disease-relevant pathways were identified. The genes identified as altered in these patients have direct effects on pulmonary arterial endothelial cell function. This finding may underlie the inability of the pulmonary vasculature to respond to and repair the damage observed in pulmonary hypertension.
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Versões (1)
- 13/11/2023 13/11/2023 - Simon Heim
Titular dos direitos
Marlene Rabinovitch, PhD, Cardiovascular Institute and Department of Pediatrics, Genetics, and Medicine, Stanford University School of Medicine, CA, USA
Transferido a
13 de novembro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000998 Transcriptome Profile of Endothelial Cells in PAH Patients vs Controls
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and affection status for pulmonary hypertension.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype table contains subject ID, sex, race, age, and mutant.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex and twin ID.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and affection status for pulmonary hypertension.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype table contains subject ID, sex, race, age, and mutant.
- This sample attributes table contains sample ID, body site where sample was collected, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, sex and twin ID.
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,2])
*Control donor lung exclusion criteria: *
Item
*Control donor lung exclusion criteria: *
boolean
C0680251 (UMLS CUI [1,1])
C2242763 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
C2242763 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
Unused donor lungs were not considered for study if the following criteria were met: <ol type="1">
Item
Unused donor lungs were not considered for study if the following criteria were met: <ol type="1">
boolean
C0445107 (UMLS CUI [1,1])
C5551647 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,3])
C5551647 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,3])
Lungs from donors ≥ 65 years old (no lower age limit)
Item
Lungs from donors ≥ 65 years old (no lower age limit)
boolean
C0001779 (UMLS CUI [1,1])
C2242763 (UMLS CUI [1,2])
C2242763 (UMLS CUI [1,2])
Lungs from donors with arterial blood gas results showing a PaO2/FiO2 ratio of <300 mmHg (the donor should be mechanically ventilated using a conventional ventilator mode with positive end-expiratory pressure of ≤ 8 mm Hg.)
Item
Lungs from donors with arterial blood gas results showing a PaO2/FiO2 ratio of <300 mmHg (the donor should be mechanically ventilated using a conventional ventilator mode with positive end-expiratory pressure of ≤ 8 mm Hg.)
boolean
C5551647 (UMLS CUI [1,1])
C0024109 (UMLS CUI [1,2])
C0150411 (UMLS CUI [1,3])
C1696484 (UMLS CUI [1,4])
C0199470 (UMLS CUI [1,5])
C2223979 (UMLS CUI [1,6])
C0032740 (UMLS CUI [1,7])
C0024109 (UMLS CUI [1,2])
C0150411 (UMLS CUI [1,3])
C1696484 (UMLS CUI [1,4])
C0199470 (UMLS CUI [1,5])
C2223979 (UMLS CUI [1,6])
C0032740 (UMLS CUI [1,7])
Lungs from donors who are seropositive for HIV, HCV or HBV (Hepatitis B surface antigen).
Item
Lungs from donors who are seropositive for HIV, HCV or HBV (Hepatitis B surface antigen).
boolean
C0029206 (UMLS CUI [1,1])
C0024109 (UMLS CUI [1,2])
C0019699 (UMLS CUI [1,3])
C0019196 (UMLS CUI [1,4])
C0019169 (UMLS CUI [1,5])
C0521143 (UMLS CUI [1,6])
C0024109 (UMLS CUI [1,2])
C0019699 (UMLS CUI [1,3])
C0019196 (UMLS CUI [1,4])
C0019169 (UMLS CUI [1,5])
C0521143 (UMLS CUI [1,6])
Lungs from donors who are high risk for HIV, HCV or HBV infections (e.g., known history of intravenous drug abuse and/or other high-risk behavior).
Item
Lungs from donors who are high risk for HIV, HCV or HBV infections (e.g., known history of intravenous drug abuse and/or other high-risk behavior).
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C4319571 (UMLS CUI [1,3])
C0019693 (UMLS CUI [1,4])
C0019163 (UMLS CUI [1,5])
C0019196 (UMLS CUI [1,6])
C0262926 (UMLS CUI [1,7])
C0086181 (UMLS CUI [1,8])
C1171309 (UMLS CUI [1,9])
C0029206 (UMLS CUI [1,2])
C4319571 (UMLS CUI [1,3])
C0019693 (UMLS CUI [1,4])
C0019163 (UMLS CUI [1,5])
C0019196 (UMLS CUI [1,6])
C0262926 (UMLS CUI [1,7])
C0086181 (UMLS CUI [1,8])
C1171309 (UMLS CUI [1,9])
Lungs from donors with a history of amphetamine/methamphetamine use
Item
Lungs from donors with a history of amphetamine/methamphetamine use
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C0262926 (UMLS CUI [1,3])
C0805080 (UMLS CUI [1,4])
C0013146 (UMLS CUI [1,5])
C0029206 (UMLS CUI [1,2])
C0262926 (UMLS CUI [1,3])
C0805080 (UMLS CUI [1,4])
C0013146 (UMLS CUI [1,5])
Lungs noted to have gross aspiration/infiltrates involving both lungs on chest radiographs (unless the infiltrates are due to volume overload and these infiltrates resolved with diuresis.)
Item
Lungs noted to have gross aspiration/infiltrates involving both lungs on chest radiographs (unless the infiltrates are due to volume overload and these infiltrates resolved with diuresis.)
boolean
C0024109 (UMLS CUI [1,1])
C0332448 (UMLS CUI [1,2])
C1720922 (UMLS CUI [1,3])
C3842377 (UMLS CUI [1,4])
C0546817 (UMLS CUI [1,5])
C0151225 (UMLS CUI [1,6])
C3714811 (UMLS CUI [1,7])
C0012797 (UMLS CUI [1,8])
C0332448 (UMLS CUI [1,2])
C1720922 (UMLS CUI [1,3])
C3842377 (UMLS CUI [1,4])
C0546817 (UMLS CUI [1,5])
C0151225 (UMLS CUI [1,6])
C3714811 (UMLS CUI [1,7])
C0012797 (UMLS CUI [1,8])
Lungs from donors who have received massive transfusion (≥10 units of packed red blood cells, 10 units of fresh frozen plasma or 10 units of platelets.
Item
Lungs from donors who have received massive transfusion (≥10 units of packed red blood cells, 10 units of fresh frozen plasma or 10 units of platelets.
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C0456675 (UMLS CUI [1,3])
C2316467 (UMLS CUI [1,4])
C0016709 (UMLS CUI [1,5])
C0086818 (UMLS CUI [1,6])
C0029206 (UMLS CUI [1,2])
C0456675 (UMLS CUI [1,3])
C2316467 (UMLS CUI [1,4])
C0016709 (UMLS CUI [1,5])
C0086818 (UMLS CUI [1,6])
Lungs with unexpected pulmonary problems such as significant emphysema or pulmonary fibrosis noted on radiographic studies or significant pulmonary hypertension (right ventricular dilatation and/or estimated systolic pulmonary arterial pressure ≤45 mmHg) noted on echocardiography
Item
Lungs with unexpected pulmonary problems such as significant emphysema or pulmonary fibrosis noted on radiographic studies or significant pulmonary hypertension (right ventricular dilatation and/or estimated systolic pulmonary arterial pressure ≤45 mmHg) noted on echocardiography
boolean
C0024109 (UMLS CUI [1,1])
C0740941 (UMLS CUI [1,2])
C4055646 (UMLS CUI [1,3])
C0034067 (UMLS CUI [1,4])
C0034069 (UMLS CUI [1,5])
C0043299 (UMLS CUI [1,6])
C0020542 (UMLS CUI [1,7])
C0344893 (UMLS CUI [1,8])
C0428643 (UMLS CUI [1,9])
C0750572 (UMLS CUI [1,10])
C0013516 (UMLS CUI [1,11])
C0740941 (UMLS CUI [1,2])
C4055646 (UMLS CUI [1,3])
C0034067 (UMLS CUI [1,4])
C0034069 (UMLS CUI [1,5])
C0043299 (UMLS CUI [1,6])
C0020542 (UMLS CUI [1,7])
C0344893 (UMLS CUI [1,8])
C0428643 (UMLS CUI [1,9])
C0750572 (UMLS CUI [1,10])
C0013516 (UMLS CUI [1,11])
Lung from donors who have a smoking history of ≥ 50 pack-years.
Item
Lung from donors who have a smoking history of ≥ 50 pack-years.
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C1519384 (UMLS CUI [1,3])
C1277691 (UMLS CUI [1,4])
C0029206 (UMLS CUI [1,2])
C1519384 (UMLS CUI [1,3])
C1277691 (UMLS CUI [1,4])
Hospitalization for >7 days. - *If lungs from cardiac death donors, further exclusion criteria apply.*
Item
Hospitalization for >7 days. - *If lungs from cardiac death donors, further exclusion criteria apply.*
boolean
C0019993 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0376297 (UMLS CUI [1,3])
C0029206 (UMLS CUI [1,4])
C0680251 (UMLS CUI [1,5])
C1517331 (UMLS CUI [1,6])
C0449238 (UMLS CUI [1,2])
C0376297 (UMLS CUI [1,3])
C0029206 (UMLS CUI [1,4])
C0680251 (UMLS CUI [1,5])
C1517331 (UMLS CUI [1,6])
Infiltrates on the last chest x-ray (this X-ray must be taken within 24 hrs of donor's death.)
Item
Infiltrates on the last chest x-ray (this X-ray must be taken within 24 hrs of donor's death.)
boolean
C0239018 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C1301931 (UMLS CUI [1,4])
C0449238 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C1301931 (UMLS CUI [1,4])
Fever >38.2°C (100.7°F) within 24 hrs of donor' demise
Item
Fever >38.2°C (100.7°F) within 24 hrs of donor' demise
boolean
C0015967 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0011065 (UMLS CUI [1,4])
C0449238 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0011065 (UMLS CUI [1,4])
Lungs harvested >60 min after donor's demise
Item
Lungs harvested >60 min after donor's demise
boolean
C0396602 (UMLS CUI [1,1])
C0687676 (UMLS CUI [1,2])
C0011065 (UMLS CUI [1,3])
C0449238 (UMLS CUI [1,4])
C0687676 (UMLS CUI [1,2])
C0011065 (UMLS CUI [1,3])
C0449238 (UMLS CUI [1,4])
*Case inclusion criteria* <ol type="1">
Item
*Case inclusion criteria* <ol type="1">
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
C1706256 (UMLS CUI [1,2])
Diagnosis of idiopathic or familial pulmonary arterial hypertension
Item
Diagnosis of idiopathic or familial pulmonary arterial hypertension
boolean
C0011900 (UMLS CUI [1,1])
C3203102 (UMLS CUI [1,2])
C1701939 (UMLS CUI [1,3])
C3203102 (UMLS CUI [1,2])
C1701939 (UMLS CUI [1,3])
Consent for donation
Item
Consent for donation
boolean
C0021430 (UMLS CUI [1,1])
C1318453 (UMLS CUI [1,2])
C1318453 (UMLS CUI [1,2])
Age 18-65 years
Item
Age 18-65 years
boolean
C0001779 (UMLS CUI [1,1])