araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients

Summary: The purpose of this study is to evaluate the performance of non invasive screening in a population of pregnant women with and without in vitro fertilisation (IVF) concomitantly to regular first trimester trisomy 21 (T21) screening using maternal age, nucal fold measurement and serum screening.

Detailed description: All pregnant women in 9 institutions in France will be offer both regular first trimester screening for trisomy 21 (T21) and cell free DNA non invasive (NI) screening test at the same time. Specificity and the positive and negative predictive values of the NI test will be analysed. The population will be divided in women who did and did not get pregnant after an In vitro fertilisation (IVF) procedure.

Eligibility: Inclusion Criteria:
  -  Age >18
  -  Singleton pregnancy
  -  Having a spontaneous pregnancy or obtained by AMP ,
  -  Having chosen to carry out a screening of the T21 to the first or second trimester of pregnancy ,
  -  Gestational age >=10 weeks of amenorrhea
  -  Consenting to invasive prenatal diagnosis,
  -  Having health insurance,
  -  Having signed the informed consent
  Exclusion Criteria:
  -  The Patients whose fetus has an abnormality on the first trimester ultrasound including nuchal translucency > 3.5mm ,
  -  Participant to another biomedical research.
  -  Pregnancy twins including the presence of a twin vanishing

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Clinical Application of Dual Sentinel Lymph Node Staining Method in Breast Cancer Patients

Summary: This study aimed to compare detection rate between dual sentinel node staining method using mixture of indocyanine green (ICG) with radioisotope(RI), and RI only.
  To identify the first lymph node(s) along the lymphatic drainage pathway from the primary tumor in the breast cancer using RI only has several disadvantages such as invisibility, interference. As ICG can be visualized with a fluorescence imaging system, we expects dual sentinel lymph node staining method had better outcomes.

Detailed description: Using mixture of indocyanine green (ICG) with radioisotope (RI) can guide surgeons to identify the first lymph node(s) along the lymphatic drainage pathway from the primary tumor in the breast to the axillary lymph node basin.
  Last pilot study, sentinel lymph node was successfully identified by using dual method of ICG and RI in 5 patients. In this study, when radiolabeled colloid is used, a gamma probe identifies radioactivity in the lymph nodes in the axilla. If ICG, RI both used, Near infrared fluorescence camera visualized during surgery.
  As investigators measure node detection time from axillary approach moment, investigators are going to compare detection rate. (ICG+RI or RI only). And determine the accuracy.
  Sentinel lymph node mapping with both ICG and radiolabeled colloid mapping agents was recommended to maximize the likelihood of SLN identification and to minimize the possibility of missing SLNs, which could result in a false-negative event.The protocol required that 130 patients who receive neoadjuvant chemotherapy.
  In this study investigators expects using mixture of indocyanine green (ICG) with radioisotope (RI) has potential to improve sentinel lymph node (SLN) mapping in breast cancer patients who receive neoadjuvant chemotherapy.
  Sentinel lymph node mapping with both ICG and radiolabeled colloid mapping agents was recommended to maximize the likelihood of SLN identification and to minimize the possibility of missing SLNs, which could result in a false-negative event.

Eligibility: Inclusion Criteria:
  -  breast cancer patients who receive neoadjuvant therapy (chemotherapy,hormonal therapy, targeted therapy)
  -  cN1-cN2 or cN3( but must be complete response status)on tumor lymphnode metastasis classification( TNM) after neoadjuvant therapy.
  -  ECOG Performance status 0 or 1
  -  consented patients with more than 20 years, less than 70 years
  Exclusion Criteria:
  -  history of breast cancer
  -  early stage breast cancer
  -  history of excisional or incisional biopsy or axillary dissection
  -  inflammatory breast carcinoma
  -  cN3 on tumor lymphnode metastasis classification(TNM)
  -  stage 4 breast cancer
  -  pregnancy

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Dexmedetomidine in Children Having Transthoracic Echocardiography

Summary: Sedation Techniques for children undergoing transthoracic echocardiography (TTE).

Detailed description: The goal in this study is to determine if there is a significant difference in the quality of sedation between two standard sedation techniques and between two doses of dexmedetomidine for children undergoing (TTE).

Eligibility: Inclusion Criteria:
  -  Outpatients scheduled to receive sedation for transthoracic echocardiography
  -  Subject must be a candidate for both types of anesthetic and both doses of dexmedetomidine
  -  Must be 3 months to 36 months of age
  Exclusion Criteria:
  -  The subject has a history of cardiac conduction system disease (e.g. 1st or 2nd degree AV block) or channelopathy (e.g. long QT).
  -  The subject is taking digoxin, alpha-adrenergic or beta-adrenergic agonist or antagonist (e.g., clonidine, propranolol, albuterol), anti-arrhythmic medications, or vasodilators (e.g. ACE inhibitors)
  -  The subject has received a dose of any other sedative within 48 hours.
  -  The subject has life-threatening, medical conditions (American Society of Anesthesiologists Physical Status 4, 5). The American Society of Anesthesiologists (ASA) classification scale is a measure of physical status or how healthy the patient is. For our study, we will focus on children which are defined as ASA I, II or III which means a healthy child (ASA I), a child with a systemic disease that is mild and well controlled (ASA II) or a child with systemic disease that is severe and controlled (ASA III).
  -  The subject is allergic to or has a contraindication to any of the drugs used in the study.
  -  The subject has previously been treated under this protocol.
  -  The subject has severe coarctation of the aorta (risk of exaggerated vasoconstriction)
  -  The subject has Moyamoya disease (risk of recurrent stroke)

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Indocyanine Green Versus Blue Dye for Detection of Sentinel Lymph Node In Endometrial Cancer

Summary: To determine the difference in the proportion of hemipelves with successful detection of Sentinel Lymph Node according to the dye used (indocyanine green with near-infrared imaging vs blue dye) in women with endometrial cancer.

Detailed description: In the past few years, Sentinel Lymph Node (SLN) procedure has emerged as an interesting solution to the debate on lymphadenectomy in endometrial cancer. Using blue-dye is inexpensive but results in an unsatisfactory detection rate of SLN. IndoCyanine Green (ICG) with near-infrared imaging is a novel technology for SLN mapping and initial reports on the use of ICG have shown high detection rate. In the present study, we aim to determine precisely the increase in detection rate of SLN associated with the use of ICG instead of blue dye. This randomized controlled trial will include patients with preoperative stage I endometrial carcinoma. All included women will undergo SLN mapping with blue dye in one hemipelvis and ICG in the other hemipelvis. Randomization will concern the side of the hemipelvis in which blue dye vs ICG mapping is used, so that the patient's contralateral hemipelvis will serve as a control to her ipsilateral hemipelvis. The primary endpoint is the difference in the proportion of hemipelves with successful detection of SLN according to the dye used. The unique precise information gained from the present study will contribute to determine whether the benefit of the use of ICG over blue dye is sufficient to justify the expense of its use.

Eligibility: Inclusion Criteria:
  -  all patients with endometrial carcinoma proven by endometrial biopsy or curettage AND
  -  preoperative FIGO (International Federation of Gynecology and Obstetrics) stage I AND
  -  intended for staging via laparoscopic or robotic surgery AND
  -  Patients must be older than 18 year-old, able to read French or English.
  Exclusion Criteria:
  -  preoperative FIGO stages II to IV
  -  previous pelvic or paraaortic lymphadenectomy or radiotherapy
  -  surgery that could change the uterine lymphatic drainage (myomectomy)
  -  iodine allergy
  -  pregnancy.

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Epicardial Ablation in Brugada Syndrome

Summary: This prospective study evaluates the methodology and results of epicardial mapping/ablation in a large series of consecutive selected BrS patients and to verify if RFA could normalize the consequences of a genetic disease.

Detailed description: The present Registry is designed as a prospective, monocentric study. All patients referred to the Arrhythmology Department of IRCCS Policlinico San Donato Milanese, University- Hospital, for the management of BrS and fulfilling the selection criteria will be invited to participate in the study and will be asked their written consent to the participation in the trial.
  Mapping and RFA procedure will be performed following a standardized procedure in hospital settings. Patients will be monitored for at least 3 days after procedure.
  Before hospital discharge, echocardiography and 12-lead ECG will be performed in all patients. An ajmaline test will be systematically performed after the procedure and thereafter at 3, 6, and 12 months after ablation.
  Patients will be followed up clinically after procedure as per normal clinical practice. Follow-up visits will be scheduled at 3, 6, and 12 months. 12-lead ECG and ICD interrogation will be performed at each follow-up visits. Patients will be instructed to immediately contact the center in case of symptoms suggestive of ventricular arrhythmias. Documentation for intercurrent events will be requested and collected.

Eligibility: Inclusion Criteria:
  -  Patients affected by Brugada Syndrome, profiled by genetic testing, with documented spontaneous or drug-induced type I BrS ECG pattern, with symptoms attributable to ventricular arrhythmias and presenting multiple documented arrhythmic episodes
  -  Patients with an ICD already implanted
  -  Patients referred to the center for an electrophysiological study and indication to a potential concomitant radio-frequency catheter ablation (RFA) of ventricular arrhythmia or ventricular fibrillation
  -  Age ≥ 18
  -  Willingness to attend follow-up examinations
  -  Written informed consent to the participation in the trial
  Exclusion Criteria:
  -  Pregnancy or breast-feeding
  -  Patients with low arrhythmic risk (Brugada pattern III)
  -  Life expectancy < 12 months.

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Ablation in Brugada Syndrome for the Prevention of VF

Summary: This trial aims to develop evidence based curative treatment with optimal net benefit for patients with Brugada syndrome.

Detailed description: This trial aims to develop evidence based curative treatment with optimal net benefit for patients with Brugada syndrome. Since a recent non-randomized pilot study and scarce case reports documented potential clinical benefit of epicardial ablation of fragmented electrograms in the region of the right ventricular outflow tract, patients in this trial will be randomized to continued implanted cardioverter defibrillator therapy (control arm) or ablation of areas of fragmented electrograms in the right ventricular outflow tract plus continued implanted cardioverter defibrillator therapy (intervention arm). A projected 92 patients in each group will be studied.

Eligibility: Inclusion Criteria:
  -  The diagnosis of Brugada syndrome is based on 2013 HRS/EHRA/APHRS Consensus document criteria
  -  Diagnosed symptomatic BrS with an implanted ICD within the last 5 years
  -  Diagnosed symptomatic BrS with an implanted ICD longer than 5 years but has at least 1 appropriate shock within the last 5 years
  -  The patient is legally competent, willing and able to undergo the study and signed the informed consent
  -  The patient is willing and able to adhere to the follow-up visit protocol
  Exclusion Criteria:
  -  A patient who does not meet inclusion criteria
  -  A patient who has had a previous epicardial ablation
  -  A patient who is pregnant (which would exclude an ablation procedure)
  -  A patient with a co-morbid condition that possesses undue risk of general anesthesia or epicardial ablation
  -  A patient who has a history of radiation therapy on the thorax

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Prevalence of Genetic Polymporphism on RNF213 rs112735431 Gene in Non-cardioemboli Ischemic Cerebrovascular Disease

Summary: To explore the prevalence of genetic polymorphism on RNF213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease in Thai patients.

Detailed description: This is an cross-sectional observational study in Chulalongkorn hospital, to determine the prevalence of genetic polymorphism on RNF213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease. Patients who are potentially eligible for study participation will be identified through a chart review of patients who were admitted in Chulalongkorn Hospital for acute ischemic stroke treatment.

Eligibility: Inclusion Criteria:
  -  Nationality in Thailand
  -  Age equal or more than 18 years
  -  Clinical and imaging diagnosis of acute ischemic stroke
  -  Patient consent to participate in the research
  Exclusion Criteria:
  -  High risk for cardioembolic stroke by TOAST classification
  -  Contraindication for venipuncture
  -  Pregnancy or breast feeding patient
  -  History of head and neck radiation
  -  Down's syndrome
  -  Marfan syndrome
  -  Autoimmune disease such as SLE
  -  Ongoing malignancy or remission of malignancy less than 1year

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: A Study to Assess the Effect of BMS-986142 on Pharmacokinetics (PK) of Probe Substrates

Summary: The study is being conducted to assess the effect of BMS-986142 on the single-dose PK parameters of montelukast, flurbiprofen, omeprazole, midazolam, and digoxin, probe drugs for (cytochome P450) CYP2C8, CYP2C9, CYP2C19, CYP3A4, and P-glycoprotein (P-gp), respectively.


Eligibility: Inclusion Criteria:
  1. Signed Informed Consent
  2. Target population: Healthy (current non-smokers) subjects as determined by medical history, surgical history, physical examination, vital signs, electrocardiogram (ECG), and clinical laboratory determinations.
  3. Subjects with body mass index of 18 to 32 kg/m2, inclusive
  4. Men, and women of nonchildbearing potential. Women must have documented proof that they are not of childbearing potential and must not be breastfeeding.
  5. Males who are sexually active with women of childbearing potential (WOCBP) must agree to follow instructions for method(s) of contraception for the duration of treatment with study drug(s) plus 5 half-lives of the study drug (3 days) plus 90 days (duration of sperm turnover) for a total of 93 days (approximately 14 weeks) after treatment completion. Female partners of male subjects are expected to use one of the highly effective methods of contraception listed in the protocol.
  Exclusion Criteria:
  1. History of any chronic or acute illness, recent infection, gastrointestinal disease, smoking and alcohol abuse, any significant drug allergy or allergy to digoxin, flurbiprofen, midazolam, omeprazole, or montelukast, Bruton's tyrosine kinase (BTK) inhibitors, immunologic or related compounds.
  2. History of billiary disorder, asthma, bleeding disorder, cancer
  3. Received live vaccine during last 12 weeks, active tuberculosis (TB) in last 3 years
  4. Medical history indicative of an increased risk of arrhythmia.
  5. Evidence of organ dysfunction or any clinically significant deviation from normal in physical examination, vital signs, ECG or clinical laboratory determinations beyond what is consistent with the target population.

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: An Open-label Drug-Drug Interaction Study to Evaluate the Effect of BCX7353 on Cytochrome P450 Enzyme Activity Using Probe Substrates

Summary: This is an open-label, single sequence study to evaluate the effect of BCX7353 on hepatic and intestinal cytochrome P450 enzymes using probe substrate drugs in healthy subjects. Pharmacokinetics of the probe substrate drugs will be measured prior to and following administration of multiple doses of BCX7353.

Detailed description: This is a single centre, single sequence, open-label, study to evaluate the effect of BCX7353 on hepatic and intestinal cytochrome P450 (CYP) 3A4 (midazolam IV and PO, respectively), CYP2C9 (tolbutamide), CYP2C19 (omeprazole) and CYP2D6 (dextromethorphan) enzyme activity using probe substrate drugs in healthy subjects. Pharmacokinetics of the probe substrate drugs will be measured prior to and following administration of multiple doses of BCX7353.
  Twenty healthy male and female subjects are planned for dosing.
  Each subject will receive the following treatments:
  Day 1: 1 mg midazolam will be administered as an IV bolus simultaneously to administration of 500 mg tolbutamide, 40 mg omeprazole, and 30 mg dextromethorphan orally.
  Day 2: a single oral dose of 2 mg midazolam. Days 3 to 9: 350 mg BCX7353 once a day. Day 10: 1 mg midazolam will be administered as an IV bolus simultaneously to administration of 500 mg tolbutamide, 40 mg omeprazole, 30 mg dextromethorphan and 350 mg BCX7353, orally.
  Day 11: a single oral dose of 2 mg of midazolam along with 350 mg BCX7353.

Eligibility: Key Inclusion Criteria:
  -  Written informed consent
  -  Body mass index 18 to 32 kg/m2
  -  Abides by study restrictions
  -  Attends all study visits and agrees to remain in study center for the confinement period
  -  Acceptable birth control measures for male subjects and women of childbearing potential
  Key Exclusion Criteria:
  -  Clinically significant medical history, current medical or psychiatric condition. This includes a history of clinically significant gastrointestinal, hematologic, renal, hepatic, bronchopulmonary, neurological, or cardiac disease
  -  Clinically significant ECG finding, vital sign measurement or laboratory/urinalysis abnormality at screening or baseline
  -  Poor or ultra- metabolizers of CYP2C19 or CYP2D6 Use of over the counter or prescription medication within 14 days of dosing and anticipated use through the follow-up visit
  -  Use of medication or consumption of any substance that is known to inhibit or induce metabolic enzymes or transporters within 30 days of dosing
  -  Participation in any other investigational drug study within 90 days of screening
  -  Recent or current history of alcohol or drug abuse
  -  Regular recent use of tobacco or nicotine products
  -  Positive serology for HBV, HCV, or HIV
  -  Pregnant or nursing
  -  Donation or loss of greater than 400 mL of blood within 3 months
  -  Serious adverse reaction or serious hypersensitivity to any drug

Relevance to patient case: not relevant
Patient case: 36-year-old female with Brugada syndrome; genetic feature: SCN5A

Clinical trial: Pharmacokinetic Study of Dexmedetomidine After Intra-nasal Dosing in Children

Summary: This research study is examining the absorption of the sedative dexmedetomidine (DEX) in the blood when given by nasal spray. The study will help us determine the best dosing amount for children undergoing sedation or anesthesia with DEX.

Detailed description: The study will be a prospective study of plasma concentrations after intranasal (1 µg/kg and 2µg/kg) and intravenous (1 µg /kg) DEX to determine the early pharmacokinetics (maximum concentration (peak) and time to peak) and bioavailability of a single intranasal dose in pediatric patients.
  Dexmedetomidine sedation is commonly utilized at Cincinnati Children's Medical Center (CCHMC) and other pediatric institutions. This compound is delivered intravenously or intranasally for sedation in children with and without congenital heart disease. Intranasal DEX, though very effective for sedation, has significant variability in its onset and peak effect. Patient care will be significantly improved if factors that determine this variability in onset and peak effect can be determined. Investigators will determine the important early clinical variables of peak plasma DEX concentration (Tmax and Cmax) and the 0 - 2 hour bioavailability of intranasal DEX in children.

Eligibility: Inclusion Criteria:
  -  Children aged 6 - 48 months (inclusive) scheduled to receive anesthesia for elective cardiac surgery.
  -  The subject must be a candidate to receive DEX. A physician member of the Division of Cardiac Anesthesiology, not involved in the study, will make this decision.
  -  The subject's legally authorized representative has given written informed consent to participate in the study.
  Exclusion Criteria:
  -  Post-natal age (PNA) < 6 months
  -  The subject is allergic to or has a contraindication to DEX
  -  Severely depressed ventricular function (ejection fraction 30% or less) on preoperative echocardiogram
  -  The subject has high risk cardiac conduction system disease at the discretion of the attending anesthesiologist or cardiologist.
  -  The subject has a hemodynamically significant coarctation or other left heart outflow obstruction
  -  The subject has received digoxin, beta-adrenergic antagonist, or calcium-channel antagonist on the day of the study
  -  The subject has received DEX within 1 week of the study date (information obtained from: parent or Medical record)
  -  Subject have nasal/respiratory symptoms which in the opinion of the Principal investigator, may affect intranasal drug absorption.

Relevance to patient case: not relevant