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

Clinical trial: Indocyanine Green and Near-infrared Fluorescence Imaging to Detect Sentinel Lymph Nodes in Patients With Endometrial Cancer

Summary: Patients with endometrial cancer who have planned robotic laparoscopic hysterectomy and full bilateral pelvic and para-aortic lymphadenectomy will receive injections of a fluorescent dye, Indocyanine green (ICG). ICG spreads through the lymphatic system, and will be visualized using near-infrared (NIR) imagers. Upon visualization of the path of the ICG, sentinel lymph nodes (SLNs), the first nodes to receive drainage from the primary tumor, will be identified. SLNs will be surgically removed and provided to Pathology for evaluation. Non-sentinel nodes will also be surgically removed, as is consistent with routine medical care for these patients, and given to Pathology for evaluation. A positive SLN may be the most accurate identifier of the extra-uterine spread of disease, and will provide information about the extent of surgical node removal necessary.


Eligibility: Inclusion Criteria:
  -  Adult women patients (>18 years of age and <90 years of age)
  -  Research authorization (consent)
  -  Pre-operative diagnosis of clinical Stage 1 endometrial cancer
  -  Pre-operative indications of grade 3 tumor, and/or tumor size greater than 2 cm in size
  -  Scheduled and consented to undergo robotic hysterectomy and surgical staging, including bilateral pelvic and para-aortic lymphadenectomy
  Exclusion Criteria:
  -  Severe coagulopathy or severe thrombocytopenia
  -  Severe anemia
  -  Severe cardio-pulmonary comorbidities demanding minimization of operative time
  -  History of liver disease
  -  Iodide allergy
  -  Emergent operation
  -  Additional surgical risk as determined during surgery at the discretion of the attending
  -  Impaired capacity to make informed medical decisions

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

Clinical trial: One Step Nucleic Acid Amplification in Endobronchial Ultrasound-guided Needle Aspiration Samples

Summary: The aim of our study is to investigate if CK19 mRNA-detection via OSNA can accurately detect lymph node metastases in lung cancer patients using EBUS-TBNA samples.

Detailed description: Regional lymph nodes are assessed before tumor resection and before initiation of chemo- or radiotherapy. Endobronchial ultrasound-guided needle aspiration (EBUS-TBNA) is a well-established method for mediastinal and hilar lymph node staging [2, 3]. Samples obtained via this route are much smaller than surgical lymph node biopsies, yet they are able to provide complete and thorough evaluation, this includes current molecular testing.
  One Step Nucleic Acid Amplification (OSNA), a molecular test that utilizes CK 19 mRNA-concentration as a target marker is becoming a rapidly dynamic method in quick detection of sentinel lymph node (SLN) metastases in breast cancer, colon cancer and other cancers.
  In lung cancer, the role of SLN is not well established. However, recent publications suggest an accurate and rapid detection of lymph node metastases in NSCLC. However this requires complete lymph node dissection either with mediastinoscopy or by other surgical means such as thoracotomy.
  The aim of our study is to investigate if CK19 mRNA-detection via OSNA can accurately detect lymph node metastases in lung cancer patients using EBUS-TBNA samples.

Eligibility: Inclusion Criteria:
  -  CT-scan suspicious for lung cancer,
  -  enlarged mediastinal lymph nodes (>10 mm),
  -  EBUS-TBNA to be performed,
  -  age: 18-99 years
  Exclusion Criteria:
  -  age: <18 years

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

Clinical trial: Supraventricular Tachycardia Collection Study

Summary: To collect supraventricular tachycardia (SVT) data for developing and testing sensing and detection algorithms for a subcutaneous implantable cardioverter defibrillator (ICD).

Detailed description: The purpose of the SVT Collect study is to collect supraventricular tachycardia episode data for developing and testing new sensing and detection algorithms for a future subcutaneous ICD.

Eligibility: Inclusion Criteria:
  -  Subjects aged 18 or above, or of legal age to give consent specific to the national law of the countries in which the trial is being conducted
  -  Subjects indicated for implantable cardioverter defibrillator (ICD)/cardiac resynchronization therapy defibrillator (CRT-D) implant or ICD/CRT-D change-out, OR subjects indicated for an ICD/CRT-D that are undergoing ablation or electrophysiology (EP) study (including Non-invasive EP Study [NIPS])
  -  Subjects are willing to provide Informed Consent
  Exclusion Criteria:
  -  Subjects who are ventricular pacing dependent
  -  Subjects with a preexisting dual/triple chamber pacemaker or ICD who have a history of atrioventricular (AV) block with atrial pacing < 120 beats per minute (BPM) while awake.
  -  Subjects who are unable to tolerate elevated ventricular rates (≥170BPM)
  -  Any condition which precludes the subject's ability to comply with the study requirements
  -  Enrollment in a concurrent study (without prior study management approval) that may confound the results of this study
  -  Subjects who are legally incompetent
  -  Subjects meet exclusion criteria required by local laws and regulations (e.g. age, breast feeding, etc).

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

Clinical trial: Study of Polymorphisms of RAAS and MMPs in Acute Heart Failure

Summary: this study aim to investigate the:
  -  association of RAAS polymorphisms and AHF
  -  association of MMP 3 and 12 polymorphisms and AHF

Detailed description: Heart failure can be defined as a complex clinical syndrome that results from any structural or functional disorder of the heart, with impairment of ability to fill the ventricles or eject blood. The main event of the IC is dyspnea and fatigue, which limit exercise tolerance and induces water retention.
  The renin angiotensin aldosterone system governs the salt and water homeostasis in the body. Renin is a proteolytic enzyme secreted by the juxtaglomerular apparatus of the kidney (area near the glomeruli). Renin has no direct action on the organism, but that is part of the renin-angiotensin system or the renin-angiotensin-aldosterone system is known.
  To date, few published studies have examined the association between the polymorphism AGT M235T * and cardiac dysfunction; and available results are contradictory. What is not known yet is the ratio of this polymorphism with the prognosis of heart failure.

Eligibility: Inclusion Criteria:
  -  aged more than 18 year old.
  -  acute non traumatic dyspnea .
  Exclusion Criteria:
  -  ECG diagnostic for acute myocardial infarction or ischemic chest pain within the prior 24 hours
  -  a history of a heart transplant, pericardial effusion, chest wall deformity suspected of causing dyspnea
  -  coma, shock,MV,vasopressor drugs
  -  arrhythmia serious and sustained,
  -  pace maker
  -  severe mitral valve disease,

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

Clinical trial: Sensing Atrial High Rate Episodes With Implantable Cardioverter-Defibrillators Trial (The SENSE Trial)

Summary: The primary aim of the "Sensing Atrial High Rate Episodes with DX System in Implantable Cardioverter Defibrillators Trial" (SENSE Trial) is to assess the efficacy of a implantable cardioverter-defibrillator (ICD) lead with dedicated atrial sensing dipoles in detecting atrial high rate episodes.
  The study hypothesis is that an ICD system with a lead with dedicated atrial sensing dipoles will have a diagnostic yield comparable to that of a standard dual chamber ICD system and superior to that of a standard single chamber ICD system.

Detailed description: The SENSE Trial is designed to study the efficacy of the DX System in detection of atrial high rate episodes (AHREs) in subjects with no prior history of atrial fibrillation. The DX System, or "DX," consists of a Biotronik DX ICD, and the Biotronik Linox Smart S DX lead which is an FDA approved ICD system that incorporates use of an implantable cardioverter-defibrillator (ICD) lead with dedicated atrial sensing dipoles.
  The SENSE Trial will be conducted at 8-12 U.S. sites. The lead coordinating site will be at Weill Cornell Medical College. Subjects will be followed for 1 year to assess for the primary endpoints of the trial.

Eligibility: Inclusion Criteria:
  -  Fulfills standard indications for ICD implantation
  -  Subject or legally authorized representative can provide written authorization per institutional requirements
  -  Subject is intended to be implanted with a complete Biotronik DX system (consisting of a Biotronik Ilesto 7 VR-T DX ICD or any future FDA approved Lumax VR-T DX ICD, and the Biotronik Linox Smart S DX lead), or has been implanted with a complete Biotronik DX system no more than 30 days prior to the date of consent
  -  Able to comply with Home Monitoring
  Exclusion Criteria:
  -  Subject has prior diagnosis of atrial fibrillation or atrial flutter
  -  Subject has need for atrial pacing
  -  Subject unwilling or unable to give informed consent or participate in follow-up
  -  Subject is unable to comply with Home Monitoring
  -  Subject is pregnant
  -  Subject has less than one year estimated life expectancy
  -  Subject was implanted with a cardiac device capable of detecting AHREs prior to implantation of the Biotronik DX system
  -  Subject was implanted with Biotronik DX system and had an AHRE detection before enrollment

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

Clinical trial: Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome

Summary: The study aims to use flecainide infusion test as diagnostic test to unmask concealed Brugada Syndrome cases. It proposes to assess the safety profile of this test in US patients and its higher sensitivity when compared to procainamide infusion (the conventional drug used in the USA). As a substudy it proposes to apply this test to early ARVC cases in order to evaluate if ECG changes similar to those seen in Brugada Syndrome could be unmasked by flecainide iv.

Detailed description: Brugada Syndrome is an inherited arrhythmogenic disease responsible for life-threatening arrhythmias and sudden cardiac death in young individuals with structural normal heart.
  It is characterized by a peculiar ECG pattern, but this pattern could be intermittent. The infusion of sodium channel blockers (flecainide, ajmaline, procainamide) is used to unmask a concealed ECG pattern, thus providing an essential contribution to the diagnosis of this condition.
  In the current clinical practice in USA, only procainamide is used for diagnostic purposes; however in Europe only ajmaline and flecainide, available as iv formulations, are widely used. European and Japanese studies have demonstrated that the use of flecainide harbors less risks of adverse events in patients and may have a higher accuracy in unraveling the presence of the disease.
  In the present study the investigators propose to use flecainide infusion test in the Cardiovascular Genetics Program at NYUMC, in order to assess its sensitivity and specificity in diagnosing the disease and compare the incidence of adverse events to that observed during procainamide use.
  Additionally, the investigators propose to extend the study protocol to patients with a suspect diagnosis of Arrhythmogenic Right Ventricular Tachycardia (ARVC), due to the possible overlap between the two conditions.
  The study has the following aims:
  1. To demonstrate the higher sensitivity and specificity of flecainide iv infusion compared to procainamide infusion for the diagnosis of Brugada Syndrome.
  2. To demonstrate that flecainide is equally safe or safer than procainamide to use for diagnosing Brugada Syndrome.
  3. To demonstrate that flecainide has high sensitivity and specificity in diagnosing also some patients with early stage Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).

Eligibility: Inclusion Criteria:
  -  Suspect diagnosis of Brugada Syndrome or ARVC
  -  Idiopathic ventricular fibrillation and suspect concealed Brugada syndrome
  -  Family history of Brugada Syndrome
  -  Family history of unexpected cardiac sudden death
  Exclusion Criteria:
  -  Type 1 Brugada Syndrome ECG
  -  Pregnancy
  -  History and/or evidence of ischemic cardiomyopathy
  -  Recent myocardial infarction
  -  Allergy or known adverse reaction to flecainide

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

Clinical trial: Serum Vitamin D Level and Its Association With Ovarian Reserve and IVF Outcome

Summary: Vitamin D has a major play in bone and calcium metabolism. Vitamin D deficiency (below 20 ng/ml) has also been linked to adverse health outcomes such as malignancy, cardiovascular disease, immune functioning, and glucose metabolism. Recent data from retrospective and prospective trials have demonstrated contradictive results concerning the role of vitamin D in female reproduction and IVF outcome. Some studies have found that women deficient in vitamin D had lower ovarian reserve and significantly lower clinical pregnancy rates when compared to patients who were sufficient levels in vitamin D. Some studies also demonstrated that serum 25-OH-D3 levels correlates with antimullerian hormone (AMH) levels in women of advanced reproductive age. It may also have a role to play in endocrine dysfunction and abnormal folliculogenesis in polycystic ovaries .
  The aim of this prospective cohort study including infertile women undergoing IVF treatment is to investigate the association between serum 25-OH- D3 levels and parametres of ovarian reserve (AMH, antral follicle count, number of oocytes collected) and clinical pregnancy and miscarriage rates .

Detailed description: Vitamin D has a major play in bone and calcium metabolism. Vitamin D deficiency (below 20 ng/ml) has also been linked to adverse health outcomes such as malignancy, cardiovascular disease, immune functioning, and glucose metabolism. Recent data from retrospective and prospective trials have demonstrated contradictive results concerning the role of vitamin D in female reproduction and IVF outcome. Some studies have found that women deficient in vitamin D had lower ovarian reserve and significantly lower clinical pregnancy rates when compared to patients who were sufficient levels in vitamin D. Some studies also demonstrated that serum 25-OH-D3 levels correlates with antimullerian hormone (AMH) levels in women of advanced reproductive age. It may also have a role to play in endocrine dysfunction and abnormal folliculogenesis in polycystic ovaries .
  The aim of this prospective cohort study including infertile women undergoing IVF treatment is to investigate the association between serum 25-OH- D3 levels and parametres of ovarian reserve (AMH, antral follicle count, number of oocytes collected) and clinical pregnancy and miscarriage rates .

Eligibility: Inclusion Criteria:
  -  Subfertile women,
  -  Indication for IVF,
  -  20-42 yrs of age.
  Exclusion Criteria:
  -  Women on therapeutic supplementation for Vitamin D Deficiency,
  -  Recurrent high order implantation failure

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

Clinical trial: Comparison of CTI Ablation Prior to or After LA Ablation for AF

Summary: This study is designed to determine if CTI prior to CPVA/PVI/Linear Lesions/Fractionation results in reduced left atrial ablation lesion sets prior to restoration of sinus rhythm in patients with long standing persistent atrial fibrillation in the absence of antiarrhythmic drug therapy compared to CTI after CPVA/PVI/Linear Lesions/Fractionation.


Eligibility: Inclusion Criteria:
  -  continuous/persistent atrial fibrillation
  Exclusion Criteria:
  -  age<18
  -  congenital heart disease
  -  pacemaker or ICD implant
  -  previous ablation

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

Clinical trial: Intrauterine Injection of Human Chorionic Gonadotropin Before Embryo Transfer in Women With Previous IVF Failure

Summary: Women with history of previous IVF cycle failure will be subjected to a fresh IVF cycle. At the time they will be undergoing embryo transfer, 50 IU of human chorionic gonadotropins diluted in 0.025ml of tissue culture media will be injected intrauterine by embryo transfer catheter 10 minutes before embryo transfer procedure.

Detailed description: Infertile women with history of previous IVF cycle failure will be subjected top a fresh IVF cycle. Following controlled ovarian hyperstimulation, ovum pick up and at the time they will be undergoing embryo transfer, 50 IU of human chorionic gonadotropins diluted in 0.025ml of tissue culture media will be injected intrauterine by embryo transfer catheter 10 minutes before embryo transfer procedure.

Eligibility: Inclusion Criteria:
  - women with previous IVF failure undergoing fresh IVF cycle
  Exclusion Criteria:
  -  women with hydrosalpinges women with intrauterine lesion like submucous fibroid or polyps

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

Clinical trial: Association of SCNN1A Single Nucleotide Polymorphisms With Neonatal Respiratory Distress Syndrome

Summary: Lung fluid absorption disorders are largely mediated by transepithelial Na+ reabsorption through alpha epithelial sodium channels (α-ENaCs) in alveolar epithelial cells. Increasing evidence has demonstrated that these lung disorders might be an important cause of neonatal respiratory distress syndrome (NRDS) by influencing gas exchange or surfactant function, particularly in near-term and term infants. The SCNN1A gene, which encodes the α-ENaC, might predispose infants to NRDS. To explore whether the single-nucleotide polymorphisms (SNPs) of SCNN1A are associated with NRDS, we conducted a case-control study to investigate the NRDS-associated loci in Han Chinese infants. Seven target SNPs were selected from the SCNN1A gene and were genotyped using the improved multiplex ligase detection reaction (iMLDR).


Eligibility: Inclusion Criteria:
  -  Newborns with RDS
  Exclusion Criteria:
  -  The infants were excluded if they had any congenital malformation, inherited metabolic abnormalities, intrauterine infection, Rh/Rh incompatibility, pneumonia, pulmonary hypertension, meconium aspiration syndrome, or asphyxia

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

Clinical trial: Randomized Controlled Trial Comparing Embryonic Quality in rFSH Versus hMG in IVF Protocol With GnRH Antagonist

Summary: rFSH and HMG are both used to controlled ovarian stimulation for patients submitted to IVF. However, there is a debate in the literature which one is better to induce ovulation in patients receiving GnRH antagonist to block premature Luteinizing Hormone (LH) secretion.
  The investigators propose a Randomized Clinical Trial (RCT) to investigate the differences among recombinant FSH and HMG in patients submitted to IVF using GnRH antagonists.

Detailed description: To compare embryonic quality and other clinical outcomes when using human menopause gonadotropin (hMG) or recombinant follicle stimulating hormone (rFSH) to the ovarian stimulation in IVF cycles with the GnRH antagonist protocol.
  Design: open randomized single center study with infertile patients submitted to IVF comparing IVF outcomes between hMG and rFSH when controlled with GnRH antagonist.
  Setting: A single private center of reproductive medicine in association with Universidade Federal do Rio Grande do Sul.
  Patients: Infertile women with normal ovarian reserve with IVF indication. Intervention: The patients were randomized in two groups, 85 received rFSH and 83 received hMG to ovulation induction, both groups used GnRH antagonist to prevent ovulation.
  Main Outcome Measure: Total embryonic score and best embryonic score. Secondary outcomes: Total dose of gonadotropins, number and size of follicles in the end of the stimulation, number of mature oocytes, number of embryos, pregnancy rates.

Eligibility: Inclusion Criteria:
  -  25 to 40 y
  -  infertile
  -  submitted to IVF
  -  no hormonal disease
  -  normal FSH (< 10)
  -  anti-mullerian hormone (AMH) > 1 ng and < 10 ng
  -  both ovaries
  -  only first or second IVF
  Exclusion Criteria:
  -  thyroid-stimulating hormone (TSH), prolactin (PRL) altered
  -  endometrioma
  -  ovarian tumor or cysts
  -  previous Ovarian Hyperstimulation Syndrome (OHSS)
  -  severe male factor

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

Clinical trial: Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias

Summary: Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or skin biopsies from patients and healthy controls for the purpose of generating cell and tissue models of Mendelian heritable forms of heart disease focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes derived from hiPSCs will provide a ready source of disease specific cells to study pathogenesis and therapeutics.

Detailed description: Further study details as provided by Gordon F. Tomaselli, Johns Hopkins University:
  Biospecimen Retention: Blood or tissue samples, hiPSCs and cardiomyocytes reprogrammed from hiPSCs Eligible patients will be approached and the study will be explained in full as a part of obtaining informed consent for the study. The subjects will have an opportunity to ask questions about the study. Control subjects, often but not exclusively family member that meet the eligibility criteria will undergo a similar procedure for informed consent. Subjects will be evaluated in clinic and will have a 1-3 mm skin biopsy or blood draw (30 cc). The subjects will be asked about their medical history during the clinic visit but this information will not be transmitted to the research laboratories where the iPSCs are generated and re-programmed, only the disease genotype will be associated with the samples. The samples that will be frozen and stored are whole blood, white blood cells, skin biopsies, hiPSCs and reprogrammed cardiomyocytes.

Eligibility: Inclusion Criteria:
  -  All patients and family members 18 years of age or older with inherited cardiac arrhythmias including LQTS, Brugada Syndrome (BrS), cathecholaminergic polymorphic ventricular tachycardia (CPVT) or early repolarization syndrome (ERS) are eligible for enrollment.
  -  All enrolled patients will have undergone clinically indicated genetic testing.
  Exclusion Criteria:
  -  Age <18 years
  -  >85 years
  -  pregnant women
  -  life-limiting co-morbidities
  -  immunocompromise

Relevance to patient case: not relevant