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

Clinical trial: Endometrial Flora in Women Undergoing IVF Treatments

Summary: Characterization of the female genital tract microbiome in women undergoing IVF treatment

Detailed description: The primary goal With The purpose of our study is to examine the uterine microbiome by Next-generation sequencing of the bacteria specific regions .
  Vaginal and uterine swabs will be taken in different women undergoing IVF /PGD. Novel bacteria and results of taxonomy assignments will be examine to find correlation of uterine flora with IVF and obstetrical outcomes.
  The metagenomics approach will be used to seek previously unidentified bacterial species in the human upper genital tract.

Eligibility: Inclusion Criteria:
  -  All undergoning IVF treatment
  -  Embryo transfer of one Blastocyst
  Exclusion Criteria:
  -  More then one Embryo Transfer
  -  Recent antibacterial treatment

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

Clinical trial: Genetic Variants and Chemotherapy-induced Abnormal Thermal Sensation

Summary: This is a prospective, single arm, single center study evaluating the use of a 4-gene panel to predict the occurrence of chemotherapy-induced abnormal thermal threshold in endometrial and ovarian cancer patients receiving post-operative chemotherapy with Carboplatin/Paclitaxel, and stage III colorectal cancer patients receiving adjuvant chemotherapy with mFOLFOX6. A total of 100 patients will be enrolled during 2017 July~ 2019 June. Blood sample will be collected before chemotherapy to analyze the genetic variants of TRPV1, TRPM2, TRPA1 and ORAI1. All patients will receive neurologic examination (Quantitative Sensory Test, QST) and complete the questionnaires for quality of life (EQ5D & CIPN20). The primary endpoint of this study is to test if the genetic variant of TRPV1, TRPM2, TRPA1, and ORAI1 is a predictive biomarker for the chemotherapy-induced abnormal thermal sensation in cancer patients.


Eligibility: Inclusion Criteria:
  -  Age ≥ 20 years old
  -  Pathological stage I~IV for ovarian cancer, stage II~IV for endometrial cancer, or stage III for colorectal cancer.
  -  Scheduled to receive adjuvant Paclitaxel/Carboplatin for ovarian or endometrial cancer, or mFOLFOX6 for colorectal cancer.
  -  Patient willing to provide blood sample for research purposes.
  -  Ability of the patient to provide informed consent.
  Exclusion Criteria:
  -  Prior treatment with neurotoxic chemotherapy, such as oxaliplatin, cisplatin, carboplatin, taxanes or vinca alkaloids.
  -  Receiving chemotherapy within 6 months.
  -  A family history of a genetic or familial neuropathy
  -  Poor compliance

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 to Prevent Sudden Death

Summary: A total of 150 patients will be randomized to perform catheter ablation or not in a 2:1 fashion in selected patients with Brugada-related symptoms (Ablation+ICD arm 105 patients vs ICD only 45 patients).

Detailed description: The main purpose of this trial is to develop evidence-based curative treatment with optimal net benefit for patients with Brugada syndrome. As recent non-randomized pilot studies and scarce case reports documented the potential benefit of epicardial ablation, patients in this trial will be randomized to epicardial catheter ablation of the regions exhibiting abnormally prolonged and fragmented electrograms in the right ventricular outflow tract plus continued implanted cardioverter defibrillator therapy (ablation arm) or continued implanted cardioverter defibrillator therapy (control arm).
  Survival from any ventricular arrhythmia (VA) recurrence will be considered as primary endpoint.
  A projected 150 patients will be enrolled and randomized to receive ablation or not in a 2:1 fashion (Ablation+ICD arm 105 patients vs ICD only 45 patients).

Eligibility: Inclusion Criteria:
  -  Patients affected by Brugada Syndrome diagnosed according to 2013 HRS/EHRA/APHRS
  -  Consensus document criteria
  -  The patient received at least 1 appropriate ICD shock.
  -  Documentation of any previous ventricular arrhythmia (VA) in the form of VT, non-sustained VT, non-sustained VF, RVOT PVC with a daily burden >10000;
  -  Age ≥ 18;
  -  Willingness to attend follow-up examinations;
  -  Written informed consent for participation in the trial.
  Exclusion Criteria:
  -  A patient who does not meet inclusion criteria;
  -  Pregnancy or breast-feeding (which would exclude an ablation procedure);
  -  Contraindications to general anesthesia or epicardial ablation;
  -  Life expectancy < 12 months

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

Clinical trial: ICSI Versus Conventional IVF in Couples With Non-severe Male Infertility

Summary: A multicenter, parallel-controlled(1:1 treatment ratio), open-label, randomized clinical trials regarding fertilization and pregnancy outcomes between ICSI and conventional IVF among couples with no-severe male-factor infertility in China.

Detailed description: A multicenter, large-scale, randomized controlled clinical trial will enroll 2,346 couples with non-severe male infertility undergoing their first or second cycle of IVF or ICSI. The study will recruit participants from 6 Reproductive Medical Centers across mainland China.The participation in this study will be approximately 2 years with a total of 7 visits from controlled ovarian hyperstimulation, pregnancy to delivery. On the day of oocyte retrieval, eligible participants will be allocated to two groups at a ratio of 1:1- ICSI protocol, and conventional IVF protocol. All participants will be randomized through stratified block randomization according to the study sites.

Eligibility: Inclusion Criteria:
  -  Infertile couples scheduled for their first or second IVF/ICSI cycle.
  -  Men with non-severe male infertility: Sperm concentration 5,000,000-15,000,000/ml or sperm with progressive motility (type A+B) 10-32%.
  -  Women received either gonadotrophin-releasing hormone agonist protocol or gonadotrophin-releasing hormone antagonist protocol as their controlled ovarian hyperstimulation treatment.
  -  Informed consent obtained.
  Exclusion Criteria:
  -  Couple with contraindication for IVF or ICSI.
  -  Couples receiving donor sperm or donor eggs.
  -  Couples undergoing PGD and PGS.
  -  Sperm concentration with progressive motility used for insemination <100,000/ml on the day of oocyte retrieval.
  -  Women with 0 oocytes after oocyte retrieval.
  -  Using frozen semen.
  -  Poor fertilization in previous cycle (≤ 25%).

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

Clinical trial: In Vitro Fertilization Impact on Metabolic Parameters

Summary: A quantitative prospective cohort study will be conducted, where blood samples will be collected at different timings during the IVF protocol, to assess the impact of fertility medications on metabolic parameters of patients undergoing IVF treatment.

Detailed description: Numerous factors predispose women to develop pregnancy-related complications, these include gestational diabetes (GDM), pre-pregnancy obesity, advanced maternal age (> 35 years) and gestational age, abnormal weight gain during pregnancy, family history of diabetes, PCOS and low parity. Evidenced-based studies reported that women with PCOS have a significantly higher risk of developing GDM compared with women without PCOS, independently of the obesity factor; this risk is higher when both factors coexist.
  Given the known effect of reproductive hormones on weight-gain, controversies still exist on whether ART predispose women to more adverse obstetric outcomes compared to normal pregnancy. ART describes different procedures to help women become pregnant, with In Vitro Fertilization (IVF) being the most commonly performed. It has been demonstrated that IVF is associated with glucose intolerance in mice and it will be interesting to determine whether this physiologic phenomenon is also altered by IVF medication (such as estrogen and progesterone) in humans. While some studies reported that singleton pregnancies conceived by ART (IVF or ovulation induction) were strongly associated with GDM compared to spontaneous conceptions, other studies did not find significant differences in the risk of GDM. Increased GDM risk presented with IVF can be associated with prenatal obesity or secondary to maternal PCOS condition. The former studies did not specify the body mass index (BMI) and the medical history of participants undergoing IVF, such as the presence of PCOS. Due to limited available data, we still cannot distinguish whether these adverse pregnancy outcomes are due to the pre-existing conditions such as PCOS, or are secondary to the IVF therapy itself.

Eligibility: Any patient presenting to us for fresh IVF with the following:
  Inclusion Criteria:
  -  Presenting with or without PCOS
  -  Presenting with structural or mechanical infertility, such as fallopian tube obstruction, endometriosis, fibroids
  -  Presenting with male factor
  -  Presenting with or without insulin resistance
  -  Combination of more than one of the listed above criteria
  Exclusion Criteria:
  -  Pre-diabetes or diabetes patients (confirmed by impaired or abnormal OGTT)
  -  Age above 39 years of age
  -  Taking glucose-lowering meds, such as metformin or janumet.
  -  Taking corticosteroids

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

Clinical trial: Ripple Mapping for Epicardial Mapping of Brugada Syndrome

Summary: Whether a mapping algorithm "Ripple-mapping" is able to rapidly identify the areas of long-duration multicomponent electrograms which constitute the targets for ablation for an automated strategy remains to be assessed.


Eligibility: Inclusion Criteria:
  -  Brugada syndrome patients requiring ablation
  Exclusion Criteria:
  -  Patients not able to consent

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

Clinical trial: The Brugada Syndrome: a Follow-up Study

Summary: Although for many years the Brugada syndrome has been labelled as a purely electrical disease in the structurally normal heart, the evolution of imaging techniques has enabled the discovery of subtle morphofunctional alterations in some of the Brugada syndrome patients. We will use new echocardiographic techniques to assess cardiac function in these patients and new parameters will be evaluated for their prognostic value as risk stratificators.


Eligibility: Inclusion Criteria:
  -  18 years or older
  -  Diagnosis of Brugada syndrome
  Exclusion Criteria:
  -  history of pericarditis, ischemic heart disease, cardiomyopathy of any origin, structural heart disease, or any other channelopathy

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

Clinical trial: Echocardiography During Ajmaline Test

Summary: In this study the investigators analyse echocardiographic images before and during Ajmaline test. The purpose is to know if any echocardiographic modifications are present during either negative or positive Ajmaline testing.

Detailed description: The diagnosis of Brugada Syndrome is made when a type 1 pattern is present on the electrocardiogram (ECG), either spontaneously or after administration of a sodium channel blocker. For pathofysiological understanding, the investigators will analyse echocardiography images before and during the administration of Ajmaline. Comparing echocardiographies before and during negative Ajmaline test, will allow the investigators to indentify the effect of Ajmaline administration on cardiac function. The comparison between images of negative and positive Ajmaline tests will expose differences related to the occurence of a type 1 ECG.

Eligibility: Inclusion Criteria:
  -  >17 years old
  -  clinical indication for Ajmaline test
  Exclusion Criteria:
  -  History of right ventricular outflow tract ablation

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

Clinical trial: Comparison of IVF and ICSI in Human IVF

Summary: In this prospective randomized clinical trial we plan to compare two fertilization method which are widely used during in vitro fertilization (IVF) treatment. Outcome of conventional IVF and intracytoplasmic sperm injection (ICSI) treatment will be compared in this study.


Eligibility: Inclusion Criteria:
  Infertile patients entering in vitro fertilization treatment At least 1 oocytes collected Semen sample is suitable for IVF and ICSI fertilization as well Number of oocytes collected is lower than 5 AND/OR female age is equal or more than 40 years
  Exclusion Criteria:
  Samen sample is not suitable for conventional IVF fertilization Previous conventional IVF treatment resulted in <50% fertilization rate

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

Clinical trial: Right Ventricle Morphology and Hemodynamics in BrS

Summary: The study purpose is to evaluate the morphological and functional characteristics of the right ventricle before and after ajmaline in patients diagnosed with Brugada syndrome.

Detailed description: All consecutive patients with suspected BrS-ECG pattern will perform an ajmaline testing (1mg/kg in 5 min). A total of 30 patients with positive testing and 30 patients with negative testing will be selected and enrolled. Patients will perform cardiac magnetic resonance and 3D echocardiography imaging to evaluate and compare morphological and functional characteristics of the 2 groups before and after ajmaline. Patients with positive testing will also perform a standardized programmed ventricular stimulation protocol.

Eligibility: Inclusion Criteria:
  -  Suspicious Brugada syndrome
  -  Indication to ajmaline testing and programmed ventricular stimulation
  -  Age > or equal to 18 years
  -  Written informed consent
  Exclusion Criteria:
  -  Pregnancy
  -  Contraindication to CMRI or to ajmaline
  -  Live espectance < 12 months

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

Clinical trial: Rhythmic Risk of Type 1 Brugada Syndrome and Pulmonary Infundibulum Mapping

Summary: Brugada syndrome has been described as the association of a right bundle block with ST segment elevation on the V1 to V3 electrocardiogram in patients with a structurally normal heart. The rhythmic risk is thus difficult to evaluate in asymptomatic patients in whom the rate of events is estimated at 0.2 to 1.4% of events per year. In addition, the predictive value of ventricular pacing remains controversial; There is therefore currently no review to effectively assess rhythmic risk in patients with Brugada type I syndrome.
  Investigators aimed to show a difference in pulmonary infundibulum voltage mapping in symptomatic and asymptomatic patients with Brugada type 1 syndrome with a comparable ECG.
  The mapping of the pulmonary infundibulum will be performed during electrophysiological exploration. Only the catheter used differs from the usual procedure.


Eligibility: Inclusion Criteria:
  Group 21
  -  Brugada Type 1 syndrome
  -  Age : 50-60 years old
  -  Asymptomatic
  -  Signed informed consent
  Group2
  -  Brugada Type 1 syndrome
  -  Age >18 years old
  -  Implantable defibrillator
  -  Having received at least 1 appropriate shock or a sudden sudden death
  -  Signed informed consent
  Groups 1 and 2
  Exclusion Criteria:
  -  Brugada Type 2 or 3 syndrome
  -  Contraindication to electrophysiological exploration

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

Clinical trial: Atrial FIbrillation Treatment With Cryoballoon in Heart failurE (AFICHE)

Summary: In this study 404 patients with heart failure and an ejection fraction of 0.40 or less, with paroxysmal atrial fibrillation, will be randomly assigned to standard treatment or standard treatment plus a session of cryoballoon ablation (left atrial balloon cryoablation for pulmonary vein isolation). All patients with either have an ICD or CRT-D/P device implanted or an implantable electrocardiographic monitoring device. The primary study endpoint will be the time to AF burden exceeding 1% over any 30-day period (calculated as the ratio of time spent in AF over total time).16 This AF burden corresponds to 7.2 hours per month.
  A powered secondary endpoint will be the time to the composite of all-cause mortality and unplanned hospitalization for heart failure.


Eligibility: Inclusion criteria:
  -  A minimum of at least two separate AF episodes recorded within the last 12 months, either on 12-lead rest ECG or on ambulatory ECG recordings (at least 5 minutes of AF on Holter recordings will be required),
  -  LVEF <40% on sinus rhythm,
  -  symptoms consistent with heart failure (New York Heart Association II or higher) despite rate control treatment,
  -  age >21 years old.
  Exclusion criteria:
  -  previous left atrial ablation,
  -  left atrial diameter >28 mm/m2 BSA on TTE (parasternal long axis view),
  -  strong clinical suspicion that reduced LVEF is primarily due to tachycardiomyopathy,
  -  pre-existing device (ICD or CRT) without AF detection algorithms and/or (for CRT devices) diagnostics of effective biventricular pacing,
  -  known primary electrical heart disease (e.g. Brugada syndrome),
  -  presence of thrombus in a heart chamber,
  -  presence of prosthetic valve at any position,
  -  moderate/severe valvular heart disease,
  -  active infectious disease or malignancy,
  -  moderate or severe hepatic impairment (Child-Pugh class B or C),
  -  severe renal failure (estimated glomerular filtration rate <20 ml/min/1.73 m2),
  -  inability or unwillingness to adhere to standard treatment or to provide consent.

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

Clinical trial: The Effect of IABP Early Insertion on Mortality in Post Cardiac Arrest Patients With Acute Coronary Syndrome

Summary: The prevalence of cardiac arrests is still high worldwide. Despite the return of spontaneous circulation (ROSC), mortality and morbidity in post cardiac arrest patients is reported high. Comprehensive management is essential in treating patients with post cardiac arrest syndrome. Adequate circulatory stability is achieved with fluid therapy, vasoactive drug therapy, and consideration of mechanical support. Intra-Aortic Ballon Pump (IABP) is one of the most feasible and available mechanical support in developing countries including Indonesia.
  There are several benefits of IABP reported in acute myocardial infarction complicated with cardiogenic shock. Nevertheless, the IABP-SHOCK II study revealed contradictive result which is IABP support was not improving mortality in acute myocardial infarction complicated with cardiogenic shock after revascularization. Other study, Korean Acute Myocardial Infarction Registry (KAMIR), also reported no benefits of IABP support in cardiogenic shock patients. But, the study the investigators mentioned earlier is a registry study, attributed to selection bias and several confounding factors resulting mismatch in population. There are no consideration to IABP time of initiation and duration of use in both studies.
  The Investigator is aiming to prove the early insertion of IABP to a better outcome compared with the absence of early IABP. The objective of the study is to assess mortality in post cardiac arrest syndrome patients with early insertion of IABP support. A total of 102 subjects will be enrolled in this study, divided into IABP and non-IABP group. The primary outcome is in-hopital-mortality, and various indicators in the pathomechanisme of post cardiac arrest syndrome will be measured in 30 minutes and 6 hours after ROSC. Effective lactate clearance, IL-6, Beclin-1, Caspase-3, a-vO2 diff, and ScvO2, cardiac output, VTI, TAPSE and ejection fraction will be measured and analized between the two groups.


Eligibility: Inclusion Criteria:
  1. Age greater than 18 and less than 75 years.
  2. Post cardiac arrest syndrome patients with decreased level of consciousness (cerebral performance categories (CPC) more than 1) and hypotension (systolic blood pressure less than 100)
  3. Experiencing successful cardiac rescucitation following cardiac arrest
  Exclusion Criteria:
  1. History of stroke (based on interview)
  2. Unequal pupil
  3. Previous use of IABP
  4. Aorta regurgitation
  5. Brugada syndrome and congenital long QT
  Drop-out Criteria:
  1. Participants who died before IABP insertion
  2. The family requests for a termination of treatment.
  3. Anemia caused by bleeding with hemoglobin decrement by >3 gr/dL
  4. Ankle brachial index(ABI) less than 0,8

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

Clinical trial: Single-center Prospective Cumulus Cell Test Study in rFSH Patients

Summary: Performing an additional non-invasive oocyte diagnostic test based on cumulus cell gene expression could improve the outcome of the ART cycle for rFSH stimulated patients


Eligibility: Inclusion Criteria:
  -  scheduled for intracytoplasmatic sperm injection (ICSI) and single (or double) embryo transfer on day 3
  -  patients down regulated with gonadotropin-releasing hormone (GnRH) antagonist and stimulated with recombinant Follicle Stimulating Hormone (FSH)
  -  undergoing first or second IVF or ICSI cycle with transfer
  -  Body Mass Index (BMI) between 17 and 33
  -  regular menstrual cycle (between 24 and 35 days)
  Exclusion Criteria:
  -  smokers (> 10 cigarettes per day)
  -  patients requesting Pre-implantation Genetic Diagnosis (PGD)
  -  patients with polycystic ovary syndrome (PCOS), or severe endometriosis (AFS stage 3-4)
  -  couples where the partner has an extremely low sperm count i.e.: extreme oligo-astheno-teratozoospermia (OAT) (< 100.000/ml) or scheduled for testicular sperm extraction (TESE)
  -  results of eventual preceding cycles may not indicate a known genetic disease, or low ovarian response or an oocyte maturation defect

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

Clinical trial: Effect of Neck Extension Exercise Using 8 Channel Surface Electromyography

Summary: Analysis of Abnormal Muscle Activities on Forward Neck Posture Syndrome Patients and Effect of Neck Extension Exercise Using 8 Channel Surface Electromyography

Detailed description: In this study, the investigators investigate the muscle contraction according to posture change in patients with forward neck posture syndrome which was not revealed by 8 channel surface electromyography and provide accurate evaluation of forward neck posture syndrome in comparison with normal group and to be used as basic research data for the development of 8 channel electric stimulation therapy device.

Eligibility: Inclusion Criteria:
  -  Healthy adults over the age of 20 who do not have any underlying disease that does not appeal to forward neck posture syndrome 2) Among adults who complained of chronic pain over three months, patients aged 20 years and over who were diagnosed with forward neck posture syndrome in a simple x-ray of the lumbar spine
  Exclusion Criteria:
  -  Patients with severe neurological disorders (procedural hypertrophy), previous cervical surgery, impaired eye diseases, spinal deformations, rehabilitation for strengthening spinal muscles within the last three months and pregnant women

Relevance to patient case: not relevant