araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome

Summary: The study aim is:
  1. To examine aortic tissue by light microscopy
  2. To examine aortic tissue by electron microscopy
  3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.
  4. To examine aortic tissue using biochemistry including proteomics.
  5. To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.
  30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.
  The investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).

Detailed description: Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.

Eligibility: Turner syndrome (TS).
  A. Inclusion
  -  TS verified by genotyping
  -  Age > 18 years
  -  Awaiting operation due to aortic dilation
  B. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
  Marfan syndrome (MS)
  A. Inclusion
  -  Females with MS verified clinically or by genotyping
  -  Age > 18 years
  -  Awaiting operation due to aortic dilation
  B. Exclusion
  - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
  Bicuspid aortic valve
  A. Inclusion
  -  Females with Bicuspid aortic valve
  -  Age > 18 years
  -  Awaiting operation due to aortic dilation
  B. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)
  Controls
  A. Inclusion
  -  Men/females who died from conditions other than aortic dilation or dissection.
  -  Age 20-60 years.
  B. Exclusion
  - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Study of Abdominal Aortic Stent Grafts in the Treatment of Infrarenal Abdominal Aortic Aneurysms

Summary: The Vascutek Anaconda™ Stent Graft System for repair of Abdominal Aortic Aneurysms (AAA) is the subject of this observational study. 180 patients will be implanted with the Anaconda™ Stent Graft System and will be followed-up annually for 5 years post-implant. The study will satisfy the requirements of the French National Authority for Health (Haute Autorité de santé) and the data collected will be used for reimbursement renewal.

Detailed description: Infrarenal abdominal aortic aneurysms may be treated with the introduction of an abdominal aortic stent graft via the femoral route. This technique is commonly used in high surgical risk patients but can also be suitable under certain conditions for normal risk patients.
  Abdominal aortic stent grafts, inserted via the femoral artery, are used to treat infrarenal abdominal aortic aneurysms, removing the need for an invasive surgical procedure.
  The aim of this observational study is to evaluate the long-term (5 year) benefits of the technique by documenting the overall mortality, complications (endoleak, migration), rate of surgical conversion, progression and rupture of the aneurysm in a cohort of patients who are representative of the treated population under real conditions of use.

Eligibility: Inclusion Criteria:
  -  Any patient implanted with the Vascutek Anaconda™ Stent Graft System for the treatment of a non-ruptured infrarenal Abdominal Aortic Aneurysm (AAA)
  Exclusion Criteria:
  -  Patients for whom clinical follow-up is impossible and cannot return for check-up visits

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Platelet Activity in Vascular Surgery for Thrombosis and Bleeding

Summary: The proposed PIVOTAL study will examine a panel of platelet/coagulation activity markers during the perioperative period. The goal is to develop a clinically useful assessment of platelet/coagulation activity for risk stratification that may ultimately serve as a target for therapeutic intervention. This study will enroll 200 patients with peripheral artery disease undergoing vascular surgery. PIVOTAL is funded by American Heart Association and is scheduled to begin enrollment in July 2013 for approximately two years.

Detailed description: To describe platelet activity among PAD subjects undergoing vascular surgery.
  To determine whether preoperative platelet activity measurements are independently associated with perioperative cardiovascular events.
  To identify demographic, clinical, and surgical factors associated with postoperative platelet activity measurements in patients with established PAD.

Eligibility: Inclusion Criteria:
  -  Subjects undergoing non emergent vascular surgery
  -  Use of aspirin within 48 hours prior to surgery
  -  Age > 21 years of age
  -  Able and willing to provide written informed consent for the study
  Exclusion Criteria:
  -  Use of any anticoagulant (Coumadin, heparin) within 24 hours to surgery
  -  Use of any Nonsteroidal Antiinflammatory Drug (NSAID) (such as ibuprofen, naproxen, etc.) within 72 hours
  -  Thrombocytopenia (platelet count<100) or Thrombocytosis (platelet count>500),
  -  Anemia (hemoglobin<9),
  -  Severe kidney disease (CrCl<30ml/min),
  -  Any known hemorrhagic diathesis.

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Comparison of Beta-blocker Versus Angiotensin Receptor Blocker for Suppression of Aneurysm Expansion in Patients With Small Abdominal Aortic Aneurysm and Hypertension (BASE Trial)

Summary: Various medical therapies have been proposed to prevent abdominal aortic aneurysm expansion. However, there have been very few randomized clinical trials to support use of any of these treatments. Several animal studies and observational reports suggest that ARBs can be useful in reducing abdominal aortic aneurysm (AAA) growth. However, so far, ARBs have not been evaluated in a randomized clinical trial. Therefore, the purpose of the study is to evaluate the effect of valsartan, an ARB, on annual growth rate in comparison with atenolol, a beta-blocker. Our hypothesis is that valsartan is superior to atenolol in the suppression of the aneurysm growth at 12 months. The BASE trial is designed as a investigator-initiated, multi-center, randomized controlled open-label trial. Patients with small AAA (aorta diameter <5cm) will be randomized 1:1 either to valsartan or to atenolol group. Randomization will be stratified by the AAA size (max. diameter >4 cm or ≤4 cm). Patients will receive either valsartan (daily dose 80 mg or more) or atenolol (daily dose 50 mg or more) for 12 months. A CT scan will measure the maximal diameter of AAA at baseline and 12 months. The annual growth of AAA will be compared between the valsartan and the atenolol group.


Eligibility: Inclusion Criteria:
  -  Age ≥20years
  -  Abdominal aortic aneurysm with maximal diameter less than 5cm
  -  Hypertension
  -  Patient with signed informed consent
  Exclusion Criteria:
  -  Saccular type aneurysm, inflammatory aneurysm, or infected aneurysm
  -  Aortic dissection
  -  Planned surgery or endovascular therapy for abdominal aortic aneurysm within 1 year
  -  Previous aorta surgery or endovascular therapy
  -  Contraindications to Beta-blocker or ARB (allergic reactions, asthma, severe bradycardia, angioedema, hyperkalemia)
  -  Allergic reaction to contrast dye
  -  Known genetic aorta disease or autoimmune or connective tissue disease: Marfan syndrome, Shprintzen-Goldberg syndrome, Loeys-Dietz syndrome, Takayasu's arteritis, Behcet's disease
  -  Pregnancy
  -  Life expectation <1 year
  -  Renal failure (serum Cr >2.0 mg/dL)
  -  Liver disease (ALT or AST > 3 x upper limit) or liver cirrhosis (Child B or C)
  -  Malignancy requiring surgery or chemotherapy within 1 year after enrollment
  -  Status post transplantation or chronic inflammatory disease requiring immune suppressive drugs over 4 weeks

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Impact of Limb Remote Ischemic Preconditioning on Mortality and Quality of Life During Abdominal Aortic Aneurysm Repair

Summary: To investigate the influence of limb remote ischemic preconditioning (LRIP) on mortality, hospitalization costs and quality of life in patients undergoing open infrarenal abdominal aortic aneurysm (AAA) repair.

Detailed description: Remote ischaemic preconditioning may confer the cytoprotection in critical organs. The investigators have revealed that limb remote ischemic preconditioning (RIPC) would reduce intestinal and pulmonary injury in patients undergoing open infrarenal abdominal aortic aneurysm (AAA) repair.Few groups have investigated the long term influence of limb remote ischemic preconditioning.Therefore, the investigators evaluated the impact of limb remote ischemic preconditioning on mortality, hospitalization costs and quality of life during elective abdominal aortic aneurysm repair in a prospective, randomized, controlled, single blind setting.

Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of abdominal aortic aneurysm
  -  Must be received open abdominal aortic aneurysm repair
  Exclusion Criteria:
  -  age >80 years old
  -  Acute coronary syndrome or myocardial infraction within 3 months
  -  Chronic obstructive pulmonary emphysema
  -  angina pain within 48 hours of repair procedure
  -  ejection fraction less than 40%
  -  poor pulmonary function (PaO2 <60mmHg)

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Circulating Endothelial Progenitor Cells and Aortic Aneurysm

Summary: We aimed to see if aortic aneurysms could be followed-up by circulating endothelial progenitor cells CD34+144+CD14- and CD34+VEGF-R2+CD14- blood level.

Detailed description: Circulating endothelial progenitor cells CD34+144+CD14- and CD34+VEGF-R2+CD14- have been shown to be inversely correlated to aortic aneurysm size. We aimed to see if aortic aneurysms could be followed-up by circulating endothelial progenitor cells CD34+144+CD14- and CD34+VEGF-R2+CD14- blood level. 40 patients followed for known aortic aneurysm >30mm and <50mm will be followed up every 6 months during 2 years. Each 6 months they will have a consultation by their physiologist with an echo or a CT-scan. At the same time, a 10ML blood sample will be taken to assess the circulating endothelial progenitor cells CD34+144+CD14- and CD34+VEGF-R2+CD14- blood level.

Eligibility: Inclusion Criteria:
  -  Aortic aneurysm size >30mm and > 50mm
  Exclusion Criteria:
  -  Infectious disease
  -  Inflammatory disease
  -  Liver insuffisency
  -  Cancer evolutive
  -  Pregnant women

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Fenestrated AAA Endovascular Graft Post-Approval Study

Summary: This post-market study is approved by the US FDA to evaluate the long-term safety and performance of the Zenith® Fenestrated AAA Endovascular Graft.


Eligibility: Inclusion Criteria:
  -  abdominal aortic and aortoiliac aneursyms with a diameter greater than or equal to 5 cm
  -  aortic or aortoiliac aneurysm with a history of growth greater than or equal to 0.5 cm per year, or clinical indication for AAA repair
  Exclusion Criteria:
  -  proximal neck less than 4mm or greater than or equal to 15 mm in length unless otherwise compromised to preclude seal
  -  renal artery stenosis greater than 50 percent

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Clinical Study of the Treovance Stent-Graft for Patients With Abdominal Aortic Aneurysms

Summary: The purpose of this clinical trial is to assess and evaluate the safety and efficacy of the Treovance Stent-Graft with Navitel Delivery System in subjects with Abdominal Aortic Aneurysms (AAA).

Detailed description: This is a phase II, multi-center, non-blinded, non-randomized study of treatment with the Treovance Stent-Graft in subjects with abdominal aortic aneurysms. The study will include 150 subjects treated with the Treovance Stent-Graft at a maximum of 30 investigational sites. There will be no prospective control group. Subjects diagnosed with infrarenal abdominal aortic aneurysms enrolled in the trial will be treated with the Treovance Stent-Graft with Navitel Delivery System. Pre-procedure baseline data will be gathered, as well as post-procedure assessments prior to hospital discharge and 30 days, 6 months, and 12 months post-implantation. In addition, annual follow-up visits out to 5 years will be conducted.
  The primary goal of this study is to gather safety and effectiveness data on the Treovance device. A maximum of 150 endovascular subjects will be required to fulfill the U.S. Phase II requirements. The data from this study will be submitted to the FDA and used to support approval in the U.S.
  There are two primary objectives, efficacy and safety of the Treovance Stent-Graft in subjects with infrarenal aortic aneurysms:
  -  Primary Efficacy will be evaluated by successful aneurysm treatment 12 months post-implant
  -  Primary Safety will be assessed by composite major adverse event (MAE) rate at 30-days
  Secondary objectives involve assessment of major device-related events and major morbidity.

Eligibility: Inclusion Criteria:
  -  Subject must be diagnosed with an infrarenal abdominal aortic aneurysm (AAA), with or without iliac artery involvement
  -  Subject must have an infrarenal AAA that is > 4.5 cm in diameter for males, or > 4.0 cm in diameter for females, or has increased in diameter by 0.5 cm in the last 6 months
  Exclusion Criteria:
  -  Subject has a dissection in abdominal aorta, ruptured aneurysm, or symptomatic aneurysm (as determined by treating physician)
  -  Subject has had a prior AAA repair (endovascular or surgical)
  -  Subject is participating in another research study, has received investigational study drug within 30 days of planned procedure, or has received an investigational device within one year of planned procedure

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Evaluation of Predictors of Aortic Aneurysm Growth and Rupture

Summary: The goal is to non-invasively study the metabolic processes within the aortic wall that are thought to explain progression to clinical manifestations of an aortic aneurysm.
  Hypothesis is that the non-invasive imaging of Abdominal Aortic Aneurysm (AAA) with contrast ultrasound, coupled with serum biomarker measurements will allow the identification of the vulnerable aortic wall and patients who are at risk of AAA growth or rupture.

Detailed description: Aim#1: Prospective Contrast Ultrasound (CUS) imaging of patients with AAA to predict AAA growth and test gender differences in rate of growth and rupture.
  Aim#2: Serum biomarker testing of patient with AAA. CUS findings will be correlated with serum biomarkers and AAA wall histology.
  Prospective Contrast Ultrasound imaging of patients with AAA as part of a pilot feasibility study to predict AAA growth and test gender differences in rate of growth and rupture. CUS findings will be correlated with serum biomarkers and AAA wall histology. Potential significance: This study will evaluate the AAA wall and will be based on detecting areas of increased vasa vasorum density within the aneurysm wall and intraluminal thrombus, which indicate regional ischemia and inflammation of the aortic wall and propensity for weakening, enlargement or rupture. This novel evaluation of the aortic wall in patients with AAA will allow individualized treatment based on the biological potential for growth and rupture.

Eligibility: Inclusion Criteria:
  -  Diagnosis of AAA with confirmation of diagnosis of any size aneurysm with imaging.
  -  21 years of age or older
  -  ability to give informed consent.
  Exclusion Criteria:
  -  Inability to provide an informed consent
  -  Known allergy to Definity
  -  Unstable cardiopulmonary conditions
  -  pregnancy

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Moyamoya Disease Biomarkers in Patients With Intracranial Atherosclerotic Stroke

Summary: The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke. To do this, biomarkers (gene and imaging) for moyamoya disease are tested and follow up angiography are performed during follow up (in selected patients).

Detailed description: 1. Purpose Both moyamoya disease (MMD) and intracranial atherosclerotic stenosis (ICAS) are more prevalent in Asians than in Westerners, although the reason for the race-ethnic differences is unsettled. It is possible that patients with adult-onset MMD were misclassified as having ICAS, which may in part explain the high prevalence of intracranial atherosclerosis in Asians. It is important to differentiation between these two diseases because MMD and ICAS have differential therapeutic strategies (surgical revascularization in MMD vs. the use of antithrombotics/statins and stenting in ICAS). The ring finger 213 (RNF213) was recently identified as a susceptibility gene for MMD in East Asians. Characteristic high-resolution (HR) MRI findings of MMD and ICAS have recently been reported. The aim of this study is to investigate the proportion of patients with moyamoya disease among the patients who were diagnosed as having intracranial atherosclerotic stroke. To do this, biomarkers (gene and imaging) for moyamoya disease are tested and follow up angiography are performed during follow up (in selected patients).
  2. Conditions: Stroke, intracranial occlusive lesion
  3. Intervention: None
  4. Study period: Jan 22, 2014 ~ Dec 31, 2016
  5. Study design: Observational model Time perspective: Retrospective-Prospective

Eligibility: Inclusion Criteria:
  1. Intracranial atherosclerotic stroke
  -  Patients with age over 20 years
  -  Patients with focal neurological deficits presented within 7 days of symptom onset
  -  Patients with acute ischemic lesions on diffusion-weighted image (DWI)
  -  Patients with stenosis on the relevant intracranial vessels (distal ICA and/ or M1)
  2. Moyamoya disease
  -  Patients with age over 20 years
  -  Patients who performed conventional angiography
  -  Patients who are diagnosed as having either definite or probable Moyamoya disease
  3. Healthy subjects
  -  Subjects with age over 20 years
  -  Subjects with no history of cerebrovascular disease
  Exclusion Criteria:
  -  Patients with extracranial stenosis more than 50%
  -  Patients with potential sources of cardio-aortic embolism
  -  Patients with moderate to severe renal disease
  -  Pregnancy or lactation
  -  Patients with short life expectancy

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: The Mechanism of TCF7L2 and SLC30A8 on Antipsychotic-induced Metabolic Syndrome

Summary: Almost all of antipsychotics can induce metabolic syndrome,Genetic factors play a key role in the development of metabolic syndrome,TCF7L2 and SLC30A8 are strongestly correlated with metabolic syndrome.Moreover,Antipsychotics have an effect on the expression of TCF7L2 and SLC30A8 genes.It indicates the variations of TCF7L2 and SLC30A8 play an important part in the development of antipsychotics-induced metabolic syndrome.

Detailed description: -  In this study, we will determine the effect of olanzapine on the expression of TCF7L2 and SLC30A8.
  -  The relationship of the polymorphism of TCF7L2 and SLC30A8 with antipsychotic-induced metabolic syndrome in schizophrenia patients.

Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of first episode schizophrenia
  -  Must be able to swallow tablets
  -  Take only one antipsychotics
  Exclusion Criteria:
  -  liver or renal or cardiovascular diseases
  -  pregnant or lactating women
  -  drug and alcohol dependence

Relevance to patient case: not relevant
Patient case: 63-year-old female with aortic aneurysm; genetic feature: ACTA2

Clinical trial: Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD

Summary: The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
  Genome wide analysis will be performed in families without mutations identified.

Detailed description: -  Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
  -  Characterization of the Phenotype
  -  Collect DNA sample
  -  Analysis of PKD1 and PKD2 genes first
  -  Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
  -  Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
  -  Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees

Eligibility: Inclusion Criteria for the proband :
  -  Patients with a diagnosis of ADPKD
  -  Written Informed Consent
  -  Affiliated or benefiting from a national insurance
  Inclusion Criteria of the relatives (affected or non affected) :
  -  Relatives with a diagnosis of ADPKD (ADPKD relatives)
  -  And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30.
  -  Written Informed consent
  -  Affiliated or benefiting from a national insurance
  Exclusion Criteria for the Probands:
  -  Subjects unable to provide written informed consent
  -  Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
  Exclusion criteria for the Relatives:
  -  Subjects unable to provide written informed consent
  -  Age under 30 for the "non-affected" relatives

Relevance to patient case: not relevant