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

Clinical trial: General Plus Spinal Anesthesia and General Anesthesia Alone on Right Ventricular Function

Summary: The investigator hypothesize that High Spinal Anesthesia (HSA) by its effect on attenuation of stress response, decrease in pulmonary vascular resistance, myocardial protection and positive myocardial oxygen balance will cause improvement in right ventricular function. So far there is no study that has evaluated the effect of HSA anesthesia on the right ventricular function, hence the investigator planned this study to compare the effect of HSA on the right ventricular function in patients with mitral valve disease with moderate to severe pulmonary hypertension planned for mitral valve replacement surgery.

Detailed description: All study patients will undergo routine TTE and TEE examination protocol followed at the investigator institution. All the other routine monitoring such as end tidal carbon dioxide, urine output, ABG, ACT, BIS, electrolytes, blood sugar, hemoglobin and ventilatory parameters etc for open heart surgery will be done as per institutional practice. In the study group, the patients will receive spinal anesthesia after placement of invasive lines and prior to induction of GA.In both the study group GA will be induced with midazolam 1-2 mg, fentanyl 2μ/kg and propofol titrated to achieve loss of consciousness. Inj. Vecuronium bromide 0.1mg/kg will be used as muscle relaxant to facilitate tracheal intubation and lignocaine spray (LOX 10% spray, Neon laboratories LTD, Thane, India) will be used over vocal cords prior to intubation to blunt the sympathetic stimulation.
  Subsequently anesthesia will be maintained in both the groups, with isoflurane inhalation to maintain BIS values between 40 to 60. In control group, fentanyl infusion 1μ/kg/hr will be started for analgesia, a similar looking infusion without fentanyl will be started in the spinal group.All patients will be shifted to ICU with inotropic and vasopressor support as per the hemodynamic condition.

Eligibility: Inclusion Criteria:
  -  50 consecutive patients of 18 to 60 years age,
  -  NYHA class II or III,
  -  with mitral valvular disease with moderate to severe PAH (mean pulmonary artery pressure > 40 mmHg) undergoing MVR
  Exclusion Criteria:
  -  emergency or redo surgery, patients with associated CAD or other valvular heart disease,
  -  COPD,
  -  bronchial asthma,
  -  obesity (BMI more than 30), anticipated difficult airway,
  -  opioid drug abuse or addiction and those with contraindication for spinal anaesthesia including local site infection,
  -  spinal deformity, deranged coagulogram defined by platelet count < 80,000 & INR > 1.

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

Clinical trial: Role of Circulating MicroRNAs in Pathogenesis of Aneurysms of the Abdominal and Thoracic Aorta - Study "Micro AAA"

Summary: The objective of this study is to establish whether patients with aortic aneurysm, compared to general population, have higher levels of selected miRNAs and whether there is significant association between the level of miRNA in circulating blood and the size of the aortic aneurysm or the risk of its rupture.

Detailed description: Aneurysm of the abdominal and thoracic aorta represents a major cause of cardiovascular morbidity and mortality. The course of this condition can stay asymptomatic for long, and its first manifestation can be acute rupture of the aneurysm sac with life-threatening bleeding. Detection of patients at risk and their early treatment significantly reduce the percentage of this potentially lethal complications.
  Aortic diseases are most often degenerative processes with a varying involvement of genetic predisposition. In literature, a substantial number of genes were proved to affect the metabolism of the vessel wall and to determine production of structural proteins, which were associated with the vascular pathologies. Pathophysiologic mechanisms of lesions of the aortic wall have not been completely understood. Among other, they include endothelial dysfunction, chronic inflammation of the vessel wall, apoptosis of smooth muscle cells and degradation of the extracellular matrix, resulting in the loss of integrity of layers of the vessel wall and decrease in its strength, which leads to dilation, rupture or dissection. Apart from mutations in genes coding the structural proteins of the vessel wall, many other potential biomarkers were proposed for early diagnosis of aortic aneurysm. These include microRNA (miRNA), one-fibre chains of non-coding ribonucleic acid which are several nucleotides long and are involved in the gene expression through the mechanism of inhibition of mRNA translation or increase in its degradation. Recently, association of levels of these miRNAs to presence and growth of aortic aneurysms has been described.

Eligibility: Inclusion Criteria:
  study population:
  -  signed informed consent for participation to the study;
  -  age above 18 years;
  -  presence of untreated thoracic or abdominal aortic aneurysm (TAA or AAA);
  -  CT-verified diagnosis of AAA/TAA including measurement of the maximum diameter of the aneurysm.
  control population:
  -  signed informed consent for participation in the study;
  -  age above 18 years;
  -  absence of a thoracic or abdominal aortic aneurysm (TAA or AAA).
  Exclusion Criteria:
  -  life expectation above one year;
  -  history of myocardial infarction or unstable angina pectoris 1 month ago.

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

Clinical trial: Biomechanical and Microstructural Properties of Ascending Aortic Aneurysms

Summary: An aortic aneurysm (thoracic or abdominal) is a permanent dilatation of the aorta caused by weakening in the arterial wall. The feared complication is aortic rupture or dissection, leading to potentially lethal aortic bleeding and associated with mortality rates up to 95%. The current diagnosis criteria do not suffice, therefore the goal of this study is the development of an improved biomechanics-based and microstructural-based diagnostic tool.

Detailed description: An aortic aneurysm (thoracic or abdominal) is a permanent dilatation of the aorta caused by weakening in the arterial wall. The feared complication is aortic rupture or dissection, leading to potentially lethal aortic bleeding and associated with mortality rates up to 95%. Diagnosis of the aneurysm and especially its risk of rupture or dissection is highly challenging. If the aneurysm diameter and/or growth rate exceed a specific threshold (respectively 55 mm and 1 cm/year), a highly invasive and dangerous surgery is performed. However, several studies have shown no correlation between the maximum transverse diameter and the risk of rupture or dissection. Since aneurysm rupture is associated with multiple aortic tissue properties, both biomechanics-based and microstructurally-based criteria can be a promising alternative.
  The overall goal of this trial is a biomechanical and microstructural analysis of aneurysms to improve the diagnostic criterion for aneurysm rupture risk. Within this goal, two scientific objectives can be distinguished. Firstly, a highly unique dataset with patient data allowing the development of an improved diagnostic tool will be created. This dataset will contain an abundance of relevant parameters such as patient characteristics, geometry, material properties and biomechanical and microstructural characteristics. The biomechanical and microstructural data will be obtained by the analysis of resected aneurysmal tissue and by dynamic imaging (4D CT). 4D CT scans are a series of ECG-gated scans that are taken at specified intervals in the cardiac circle. The second objective is to create a personalized diagnostic tool. An aneurysm rupture risk criteria based on geometry as well as biomechanical and microstructural properties is expected to be significantly more reliable than the current criteria. More specifically, a correlation between patient characteristics that can be measured non-invasively and the aneurysm rupture risk is searched for.

Eligibility: Inclusion Criteria:
  -  Patients suffering from thoracic aortic aneurysms (ATAA), asymptomatic or symptomatic.
  -  Patients with ruptured ATAA undergoing an emergency surgery.
  -  Signed informed consent.
  Exclusion Criteria:
  -  Patients with ruptured ATAA due to trauma.
  -  The presence of any aneurysm feature that will prevent the collection of tissue samples suitable for the biomechanical and microstructural studies.

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

Clinical trial: PRKAA2 Genetic Polymorphisms and Its Susceptibility to Chinese Type 2 Diabetes Mellitus and Diabetic Nephropathy

Summary: Metformin is a classical oral antidiabetic drug, often recommended to be the first-choice treatment of type 2 diabetes mellitus (T2DM). Based on the previous research on PRKAA2, STK11 and diabetes, this study aimed to investigate the distributive characteristic of PRKAA2 and STK11 polymorphisms and the potential influence of STK11polymorphisms on metformin efficacy among Chinese T2DM patients, discuss the association of PRKAA2 polymorphisms between T2DM patients and healthy subjects.


Eligibility: Inclusion Criteria:
  -  diagnosed with T2DM in keeping with the WHO criteria in 1999 [14], with fasting blood glucose (FBG) ≥ 7.0mmol ⁄ L and ⁄ or postprandial blood glucose (PBG) ≥ 11.1mmol ⁄ L; not using other antidiabetic drugs within the experimental period.
  Exclusion Criteria:
  -  other significant illness such as cancer, myocardial infarction, stroke, severe liver, and kidney disease

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

Clinical trial: Multiple Burrhole Therapy With Erythropoietin for Unstable Moyamoya

Summary: In this study, the investigators aim to evaluate the indirect revascularization outcomes of a new combination therapy of multiple burrhole procedure with promotion of arteriogenesis by intravenous (IV) erythropoietin (EPO) pretreatment on Moyamoya patients with acute neurological presentation, and outline the clinical and vascular factors associated with revascularization through the burrholes.

Detailed description: This is a investigator led, single-center, single arm, interventional trial in prospective Moyamoya disease (MMD) and Moyamoya syndrome (MMS) registry. MMD or MMS patients with acute neurological presentation such as ischemic stroke or transient ischemic attack are eligible.
  After inclusion, initial evaluation including transfemoral angiography is performed. A 3 day pre-procedure IV erythropoietin (120000 international units[IU] #3) is given for promotion of arteriogenesis, than multiple burrhole procedure is performed. Arteriogenesis is evaluated by 6 month transfemoral angiography.

Eligibility: Inclusion Criteria:
  -  Age ≥16 years
  -  Acute neurological presentation with recurrent transient ischemic attacks (TIA) or cerebral infarction within 30 days of symptom onset
  -  Angiographic findings compatible with the diagnostic criteria for MMD or MMS (unilateral findings, bilateral distal internal carotid artery involvement without Moyamoya vessels, or presence of other causative factors)
  -  Significant decrease in basal perfusion and reservoir capacity on brain perfusion CT or Brain single photon emission computed tomography with acetazolamide (Diamox®) challenge (D-SPECT)
  Exclusion Criteria:
  -  Definite presence of transdural collateral flow on cerebral angiography.
  -  Sufficient perfusion status via Willisian, leptomeningeal, or other collateral systems, as evaluated by multimodal imaging methods.
  -  > 30 days after symptom onset

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

Clinical trial: In Vivo Evaluation of Growth and Risk of Rupture of Dilated Ascending Aorta Using 4D Cardiac Magnetic Resonance

Summary: Ascending aorta aneurysmal disease is common and can be complicated by dissection or rupture. There is substantial variation in individual aneurysm progression: established risk factors for an accelerated aneurysm growth rate include initial size or localization, the presence of aortic valve disease, congenital bicuspid aortic valve or connective tissue disorders.

Detailed description: Although there is an increased lifetime risk when the aortic diameter exceeds 6 cm, predicting aneurysm progression is nearly impossible and dissection and rupture also occur at diameters under 6 cm. The assessment of aortic hemodynamics and the presence of altered flow patterns, as well as distribution and changes in wall shear stress (WSS) and the oscillatory shear index (OSI), using 4D phase contrast cardiovascular magnetic resonance (CMR) may provide further insights in how aneurysms develop and in assessing the risk of dissection. The purpose of this study was to investigate in patients with dilated ascending aorta the flow patterns and vessel wall parameters in order to correlate these hemodynamics factors with changes in aorta size.

Eligibility: Inclusion Criteria:
  -  Age ≥ 18 years.
  -  Supra-coronary aortic diameter measured by CT-scan or transthoracic/trans-esophageal echocardiography between 40 and 45 mm in case of presence of aortic valve disease, bicuspid aortic valve or connective tissue disease and between 40 and 50 mm in case of absence of aortic valve disease, bicuspid aortic valve disease or connective tissue.
  -  Informed consent for participation in the study
  Exclusion Criteria:
  -  Contraindication to MRI
  -  Patient's refusal to participate in the study and / or inability to express agreement or signing the informed consent.

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

Clinical trial: The PARTNER II Trial: Placement of AoRTic TraNscathetER Valves II - PARTNER II - Nested Registry 3/Valve-in-Valve

Summary: To assess the safety and effectiveness of the SAPIEN XT transcatheter heart valve in patients with a failing surgical aortic bioprosthetic valve.

Detailed description: A prospective, single-arm, multicenter clinical trial. The trial will enroll patients with a failing surgical bioprosthetic valve in the aortic position demonstrating stenosis and/or insufficiency. This is a PARTNER II nested registry.

Eligibility: Inclusion Criteria:
  1. 1.Patient has senile degenerative aortic valve stenosis with echocardiographically derived criteria: mean gradient >40 mmHg or jet velocity greater than 4.0 m/s and an initial aortic valve area (AVA) of ≤0.8 cm2 or indexed EOA < 0.5 cm2/m2. Qualifying echo must be within 60 days of the date of the procedure.
  2. Patient was symptomatic from his/her aortic valve stenosis, as demonstrated by NYHA Functional Class II or greater.
  3. The heart team agreed (and verified in the case review process) that valve implantation would likely benefit the patient.
  4. The study patient or the study patient's legal representative was informed of the nature of the study, agreed to its provisions and had provided written informed consent as approved by the Institutional Review Board (IRB) of the respective clinical site.
  5. Heart team consensus that the risk of surgical mortality or major morbidity ≥ 50%.
  6. Stenosed or insufficient surgically implanted bioprosthetic valve in the aortic position.
  Exclusion Criteria:
  1. Bioprosthetic valve labeled external diameter < 21mm.
  2. Surgical or transcatheter valve in another position on the same side of the heart (mitral and tricuspid rings are not an exclusion).
  3. Infectious endocarditis within 6 months.
  4. Acute myocardial infarction ≤ 1 month (30 days) before the intended treatment.

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

Clinical trial: Diagnosis and Prognosis for Aortic Aneurysm aNd Dissection in Anzhen(DPANDA) Study

Summary: The registry study aims to determine serial biomarkers to diagnosis and prognosis of aortic aneurysm/aortic dissection.

Detailed description: The study aims to investigate the role of candidate biomarkers in the diagnosis and prognosis of AA and AD. In the diagnosis part, we begin with a discovery phase where individually matched case-control study. Patients within each disease outcomes (i.e. AD, AMI, PE, AA without AD and healthy controls) are age and sex matched and retrospectively included.In the prognosis part of the study, patients with confirmed AA and AD are enrolled. The primary outcome is the all-cause mortality based on the death certificates. The secondary outcome is the in-hospital mortality according to the patients'medical records.

Eligibility: Inclusion Criteria:
  Retrospective
  -  All patients who were referred to the surgical service for evaluation and management of aortic dissection were included.
  Perspective
  -  Patients with initial suspicion of having AAD were perspectively enrolled.
  Exclusion Criteria:
  Retrospective
  -  Patients who received packed red blood cells, whole blood, or platelets less than 10 days before the blood sample was taken;
  -  Patients with aortic trauma, pseudo aneurysm, history of heart failure, renal dysfunction, severe pulmonary diseases, or active cancer;
  -  Patients who entered the hospital for checkups after surgery.
  Perspective
  -  Patients in whom there is little or no suspicion of a life-threatening disease;
  -  Patients with confirmed acute myocardial infarction,angina or pulmonary embolism
  -  The symptoms were clearly not related to AD (e.g. pleurisy, pneumonia, acute abdominal diseases).

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

Clinical trial: LINQ for impEdance meAsuremeNt While Off From HF Medication Study

Summary: The purpose of this non-randomized, cross-over, unblinded, single-center feasibility study is to assess the sensitivity of the LINQ ICM to measure derived-subcutaneous impedance in patients with heart failure during periods when diuretics and/or HF-medication consumption is increased or suspended for 48 hours (up to 72 hours at physician discretion) and to collect safety information related to HF status and to medication consumption changes.

Detailed description: Up to 30 subjects with a clinical diagnosis of Heart Failure will be enrolled in the study. It is expected that the subjects will be enrolled over a period of approximately 6 months.
  3 follow up visits are planned at 2, 4 and 6 months (+/- one week) following the LINQ ICM implant.
  The total expected duration of the study is of about 1 year. According to the enrolment chronological order, each subject will be allocated to Diuretic Suspension group (DS), Diuretic Increase (DI) or Diuretic+MRA medication Suspension (DMS), which will define the medication regimen before the follow-up visit.
  Primary objective of the study is detecting the variation of impedance magnitude and the time of occurrence after medication regimen changes will be evaluated at each follow-up.

Eligibility: Inclusion Criteria:
  -  Clinical Diagnosis of Heart Failure
  -  Plasma NT-proBNP (>250ng/L in SR and >1,000ng/L in AF)
  -  LVEF <50% measured in the year before enrolment
  -  Treated routinely with a daily dose of loop diuretic
  -  Receiving other guideline-indicated therapy for heart failure
  -  Willing to sign the informed consent form.
  -  Greater than 18 years of age.
  Exclusion Criteria:
  -  Pregnant patients (all females of child-bearing potential must have a negative pregnancy test before LINQ ICM implant)
  -  eGFR <30 ml/minute.
  -  Any concomitant condition which in the opinion of the investigator would not allow a safe participation in the study.
  -  Patients with implanted pacemakers or defibrillators
  -  Severe aortic or mitral valve disease
  -  Breathlessness at rest or on minor exertion.
  -  Chest pain at rest or on mild or moderate exertion.
  -  Patients deemed too unstable to miss 48 hours of heart failure treatment
  -  Enrolled in another study that could confound the results of this study, without documented pre-approval from Medtronic study manager

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

Clinical trial: The Association Between Diabetes Mellitus, Oral Lichen Planus and Insulin-like Growth Factors 1 and 2 (IGF1 and IGF2)

Summary: Diabetes mellitus is among the most common chronic diseases, with significant and well documented impact on oral cavity health. Among the most common diseases of the oral cavity mucosa and complications in patients with impaired glucose metabolism and diabetes mellitus is oral lichen ruber (OLR), which according to World Health Organisation (WHO) is considered potentially malignant disorder. It was found that lichen ruber in diabetes mellitus has a much more aggressive clinical course in the form of atrophic-erosive and ulcerative lesions showing an increased tendency to malignant transformation. Although OLR etiology is unknown, evidence suggests cell-mediated autoimmune pathogenesis. OLR epithelial cells show anomalies in both enzymatic activity and carbohydrate metabolism, which may be related to hormones regulating carbohydrate, insulin and insulin-like growth factors 1 and 2 (IGF-1 and IGF-2) metabolism. The hypothesis of our research is that patients with diabetes mellitus and oral lichen ruber lesions will have a disturbance of insulin-like growth factors 1 and 2 and hence a greater risk of malignant transformation, compared to patients with oral lichen ruber without diabetes and healthy patients without alterations in the oral mucosa.

Detailed description: Oral lichen ruber (OLR) in the diabetes mellitus patients has more aggressive clinical course in the form of atrophic-erosive and ulcerative lesions showing an increased tendency to malignant transformation. OLR epithelial cells show anomalies in both enzymatic activity and carbohydrate metabolism, which may be related to hormones regulating carbohydrate, insulin and insulin-like Growth Factors 1 and 2 (IGF-1 and IGF-2) metabolism. The role of insulin-like growth factors (IGFs) is of great importance in normal growth and cell development (cell proliferation, differentiation and apoptosis), and is involved in different aspects of cell transformation in malignant phenotype. A change in the expression of IGF1, IGF2 and IGF2R proteins is described in several types of malignant tumors including oral cancer. However, data on their role in the development of malignant lesions of the oral cavity are scarce, and the results are inconsistent. Our hypothesis is that patients with diabetes mellitus and oral lichen ruber lesions will have a disturbance of insulin-like growth factors 1 and 2 and hence a greater risk of malignant transformation, compared to patients with oral lichen ruber without diabetes and healthy patients without alterations in the oral mucosa.

Eligibility: Inclusion Criteria:
  -  histopathologically confirmed oral lichen ruber patients, with and without diabetes mellitus
  -  healthy volunteers referred for alveolotomy
  Exclusion Criteria:
  -  non-consent patients

Relevance to patient case: not relevant