araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: The Effect of General Anesthesia on the Risk for Arrhythmia

Summary: Polymorphic ventricular tachycardia, known as Torsades de Pointes (TdP), is a specific form of ventricular arrhythmia with a characteristic twist of the QRS complex around the isoelectric baseline. TdP can degenerate into ventricular defibrillation followed by sudden cardiac death. A predictor for the development of TdP is the length of the QT interval measured on an EKG recording. The QT interval is known to be prolonged by many medications used in a perioperative setting as well as by other conditions such as hypothermia and electrolyte imbalance. General anesthesia exposes most of the investigators patients to a combination of several of those medications and conditions and therefore might increase the risk for the development of QT prolongation. Moreover, patient related risk factors are well known and aggravate the individual risk for potential life threatening TdP events when exposed to QT prolonging medications perioperatively.
  Previous research suggests that more than 20% of the patients might develop QT prolongations perioperatively and are consequently on an increased risk for TdP; yet, no study has systematically investigated the magnitude of the problem and associated risk factors.
  The proposed pilot study is designed as a prospective observational cohort study to investigate the QT interval before, during and after general anesthesia. It aims to determine the incidence of perioperative QT prolongations. A customary long term EKG recording device will be connected to a random sample of patients undergoing general anesthesia. Using these continuous EKG tracings, the lengths of the QT interval will be analyzed during the perioperative period.


Eligibility: Inclusion Criteria:
  -  Male and female ASA I - III patients
  -  Age 18 years and older
  -  Scheduled for general anesthesia with a duration of at least 1 hour
  Exclusion Criteria:
  -  Cardiac or thoracic surgery
  -  Planed postoperative ICU admission
  -  Non-English speaking
  -  Not in sinus rhythm
  -  Left and right bundle branch block
  -  Implanted pacemaker
  -  Mentally impaired

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Inherited Myokymia: A Clinical and Genetic Study of a Family

Summary: Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions. It is characterized by muscle twitching at rest (visible myokymia), cramps, hyperhidrosis, paraesthesiae, mild muscle weakness. and impaired muscle relaxation, or pseudomyotonia. Electromyographic recording is a key diagnostic tool in detecting myokymia and neuromyotonia. Pathophysiology of neuromyotonia is claimed to be related immune disorder, autoimmune anti-voltage-gated potassium-channel antibodies and genetic mutation in potassium channel. KCNA1 (Kv1.1) mutation was mostly reported in a autosomal dominant trait. In the present study, we report a family affected with myokymia，worsening with elevated body temperature, febrile illness or spicy food. How the change in temperature influence clinical features of channelopathies is an interesting topic. Variant clinical severity of family members are recorded. The index patient has possible autoimmune mechanism involvement because of his clinical feature of myasthenia gravis with thymoma and hyperthyroidism. Further analyzing the genetic mutation in potassium channelopathy may provide researchers some pathophysiological insight into the Isaac's syndrome.


Eligibility: Inclusion Criteria:
  -  The disease was initially diagnosed of Isaacs syndrome by two neurologist(Dr Tsai and Dr Yang). We will recruit family members of diseased patient and normal subjects for clinical, electromyographic and genetic studies.
  Exclusion Criteria:
  -  none

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: A Trial of Observed Long-acting, Anti-HIV Treatment With a Monoclonal CCR5 Antibody (PRO 140) as an Adjunct to a New, Optimized, Oral Antiretroviral Regimen in HIV-infected Injection Drug Users With Viral Rebound and Documented Poor Adherence

Summary: PRO 140 2102 is a phase 2b, national, multicenter, randomized, double-blind, placebo-controlled study in order to evaluate the safety and efficacy of PRO 140 (anti-CCR5 monoclonal antibody) administered subcutaneously as an adjunct to a new, optimized, oral antiretroviral regimen in HIV-infected injection drug users with viral rebound and documented poor adherence to the previous antiretroviral regimen.


Eligibility: Key Inclusion Criteria:
  1. Only R5 virus
  2. HIV-1 RNA > 1,000 copies/mL but < 100,000 copies/mL
  3. CD4+ lymphocyte counts > 100 cells/μL
  4. Non-prescription recreational drug use within the previous 6 months
  Key Exclusion Criteria:
  1. Females who are pregnant (positive blood test), lactating, or breastfeeding, or who plan to become pregnant during the study
  2. Prior use of any CCR5 entry inhibitors
  3. History of any acquired immune deficiency syndrome (AIDS)-defining illness

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: GS 5885 Administered Concomitantly With GS-9451, Tegobuvir and Ribavirin (RBV) in Chronic Genotype 1 Hepatitis C Virus (HCV) Infection

Summary: The purpose of this phase 2 study is to determine whether 30 mg or 90 mg of GS-5885 when given with GS-9451, Tegobuvir and Ribavirin (RBV) for 12 or 24 weeks is effective, safe and tolerable in the treatment of Chronic Genotype 1 HCV Infection.


Eligibility: Inclusion Criteria:
  -  Adult subjects 18 to 70 years of age
  -  Chronic HCV infection for at least 6 months prior to Baseline (Day 1)
  -  Liver biopsy results (performed no more than 2 years prior to Screening) indicating the absence of cirrhosis
  -  Monoinfection with HCV genotype 1a or 1b
  -  HCV treatment-naïve
  -  Body mass index (BMI) between 18 and 36 kg/m2
  -  Creatinine clearance ≥ 50 mL/min
  -  Subject agrees to use highly effective contraception methods if female of childbearing potential or sexually active male.
  -  Screening laboratory values within defined thresholds
  Exclusion Criteria:
  -  Autoimmune disease
  -  Decompensated liver disease or cirrhosis
  -  Poorly controlled diabetes mellitus
  -  Severe psychiatric illness
  -  Severe chronic obstructive pulmonary disease (COPD)
  -  Serological evidence of co-infection with human immunodeficiency virus (HIV), hepatitis B virus (HBV), or another HCV genotype
  -  Suspicion of hepatocellular carcinoma or other malignancy (with exception of certain skin cancers)
  -  History of hemoglobinopathy
  -  Known retinal disease
  -  Subjects who are immunosuppressed
  -  Subjects with known, current use of amphetamines, cocaine, opiates (i.e., morphine, heroin), methadone, or ongoing alcohol abuse
  -  Subjects must have no history of clinically significant cardiac disease, including a family history of Long QT syndrome, and no relevant electrocardiogram (ECG) abnormalities at screening

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Axillary Reverse Mapping

Summary: It has been hypothesized that the proximity of the anatomic locations of the arm lymphatic drainage system to the breast lymphatic system in the axilla put the arm lymphatics at risk for disruption during a sentinel lymph node biopsy (SLNB) and/or axillary lymph node dissection (ALND). Therefore, mapping the drainage of the arm in addition to the drainage of the breast during the procedure would potentially decrease the incidence of arm lymphatic disruption and subsequent development of lymphedema while providing adequate axillary breast nodes needed for staging.

Detailed description: Patients will receive an injection of 1.0 mCi of technetium-99m sulfur colloid that will be injected into the sub-dermal subareolar aspect of the affected breast.
  On the day of surgery, if the radioactive SLN cannot be located using the gamma probe prior to incision, lymphazurin or methylene blue dye will be used in the breast in the subareolar plexus at the discretion of the surgeon for assistance in identifying the sentinel nodes. This contingency, expected to occur < 3% of the time, will be used since locating the SLN for staging is of greater importance than the study. If radioactive isotope is sufficient to identify the sentinel node draining from the breast, then the blue dye will be injected dermally in the upper inner arm along the bicipital groove of the ipsilateral arm in order to locate the draining lymphatics from the arm. No more than 5cc of blue dye will be injected in any of the above mentioned scenarios. The site of all injections (radioactivity and/or blue dye) will be recorded.

Eligibility: Inclusion Criteria:
  -  18 - 100 years old
  -  Not pregnant or breastfeeding
  -  Diagnosis of breast cancer requiring LN evaluation for ipsilateral or contralateral breast or prophylactic mastectomy
  -  Willing participation after obtaining informed consent
  Exclusion Criteria:
  -  < 18 or > 100 years of age
  -  Pregnant or breastfeeding
  -  Blue dye allergy
  -  Cosmetic allergy
  -  History of primary lymphedema
  -  Prior breast augmentation

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Droperidol Versus Metoclopramide + Diphenhydramine for the Treatment of Primary Headaches

Summary: The purpose of this study is to determine if droperidol is equally as effective as metoclopramide for treatment of primary headaches in the Emergency Department.


Eligibility: Inclusion Criteria:
  -  18 years old to 65 years old, diagnosis of primary headache
  Exclusion Criteria:
  -  Allergy to study medications, pregnant, breast-feeding, prisoners, non-english speaking, not eligible to receive droperidol based on ED protocol (see below), patients in whom head trauma, infection, vascular disorders, and disorders of facial or cranial structures are suspected
  ED Droperidol Protocol
  Droperidol must NOT be used in patients with any of the following:
  -  Known or suspected QT prolongation, including congenital long QT syndrome
  -  Cardiac Disease [cardiomyopathy, congestive heart failure, hypertension, ischemic heart disease, myocardial infarction, bradycardia (< 50 bpm)]
  -  History of the following:
  -  Renal failure
  -  Cerebrovascular disease
  -  Diabetes or hypoglycemia
  -  Alcoholism/alcohol abuse
  -  Pituitary insufficiency
  -  Hypothyroidism
  -  Hypothermia
  -  Anorexia
  -  Advanced age (>65 yrs)
  -  Use of the following medications: digoxin, benzodiazepine, diuretics, IV opiates, or other medications known to prolong the QTc interval.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: A Study of LY2484595 on the Electrical Activity of the Heart

Summary: The purpose of this study is to evaluate the effect on the electrical activity of the heart as measured by an electrocardiogram (ECG) after dosing with 10 days of LY2484595 compared to 10 days of placebo in relation to a single dose of moxifloxacin. Information about any side effects that occur will also be collected.


Eligibility: Inclusion Criteria:
  -  Healthy males and females
  -  Body mass index (BMI) of 18.5 to 29 kilograms per square meter (kg/m²)
  -  Reliable and willing to be available for the duration of the study and are willing to follow study procedures
  -  Provided written informed consent
  Exclusion Criteria:
  -  Known allergies to LY2484595 or moxifloxacin
  -  Personal or family history of long QT syndrome, heart failure, or low blood potassium (hypokalemia) a family history of sudden death, or unexplained syncope within the last year
  -  Positive findings on urinary drug screening
  -  Cigarette smokers

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Study to Investigate the Effects of Orteronel on the QT/QTc Interval in Patients With Metastatic Castration-Resistant Prostate Cancer

Summary: The purpose of this phase 2, open-label, single-arm, multidose, multicenter study is to investigate the effects of Orteronel plus Prednisone on the QT/QTc interval in patients with Metastatic Castration-Resistant Prostrate Cancer


Eligibility: Inclusion Criteria:
  -  Voluntary written consent
  -  Screening PSA ≥ 2ng/ml
  -  Patients must have a diagnosis of mCRPC
  -  Eastern Cooperative Oncology Group (ECOG) performance status 0 to 1
  -  Prior surgical or medical castration with testosterone at screening < 50 ng/dL
  Exclusion Criteria:
  -  Prior chemotherapy for prostate cancer within 6 months prior to screening. (Any prior therapy with cabazitaxel, mitoxantrone, or anthracyclines is exclusionary.)
  -  Documented central nervous system metastases
  -  Clinically significant heart disease
  -  Patients who have an abnormal 12-lead ECG result at screening including one or more of the following: QRS>110 ms, QTcF>480ms, PR interval>200 ms
  -  Patients who have a history of risk factors for TdP including unexplained syncope, known long QT syndrome, heart failure, angina, or clinically significant abnormal laboratory assessments
  Please note that there are additional inclusion and exclusion criteria. The study center will determine if you meet all of the criteria.
  Site personnel will explain the trial in detail and answer any question you may have if you do qualify for the study. You can then decide whether or not you wish to participate. If you do not qualify for the trial, site personnel will explain the reasons

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Escitalopram Trial for Irritable Bowel Syndrome (IBS) Patients With Panic Disorder

Summary: This study will be executed according to a randomized double-blind placebo-controlled trial with two parallel groups, treated over the period of 6 months with escitalopram or placebo.
  Hypotheses: Escitalopram is more effective than placebo in the control of gastrointestinal symptoms, in irritable bowel syndrome (IBS) patients with panic disorder. Escitalopram is more effective than placebo in the control of psychiatric symptoms, in IBS patients with panic disorder.


Eligibility: Inclusion Criteria:
  1. IBS will be diagnosed according to the Rome III criteria by a gastroenterologist.
  2. Subtyping of IBS patients will be performed using the following classification according to the Rome III criteria: IBS with constipation (IBS-C), IBS with diarrhea (IBS-D), mixed IBS (IBS-M) or not subtyped IBS (IBS-U).
  3. Based on the medical history and previous examination, no other causes for the abdominal complaints can be defined.
  4. A panic disorder will be diagnosed based on DSM IV criteria by a psychiatrist.
  5. Age above 18 years and under 70 years.
  6. Given written informed consent.
  Exclusion Criteria:
  1. Inability to stop medication that can influence gastrointestinal motility or perception (like loperamide, butylscopolamine, duspatalin, metoclopramide, domperidon, erytromycin), serotonin metabolism (like carbidopa, food supplementation), or epigenetics (like valproic acid), or containing perforated St. John's wort (Hypericum perforatum). In general this medication can be stopped without problems. However, this can increase symptoms. When the increase in symptoms will be to high, this medication will be restarted and the patient excluded form the study.
  2. Administration of investigational drugs in the 180 days prior to the study.
  3. Major abdominal surgery interfering with gastrointestinal function (uncomplicated appendectomy, cholecystectomy and hysterectomy allowed, and other surgery upon judgement of the principle investigator), epilepsy or (hypo)manic episodes.
  4. Pregnancy and lactation.
  5. Excessive alcohol consumption (> 20 alcoholic consumptions per week) or drug abuse.
  6. Co-intervention or other treatment for IBS or anxiety, with the exception of initial co-intervention with benzodiazepines (alprazolam) contrasting side effects due to SSRI's during the first two weeks of dose elevation.
  7. Known prolongation of QT-interval or long-QT-syndrome, other cardiac disease, or use of medication with known prolongation of QT-interval.

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: International HIV Antiretroviral Adherence, Resistance and Survival

Summary: Real-time Wireless Adherence Monitoring to HIV Antiretroviral Therapy in Rural Uganda.

Detailed description: The investigators will study use a novel method of real-time wireless adherence monitoring in one of the best established multi-disciplinary HIV antiretroviral treatment cohorts in rural Africa. The investigators will advance our theoretical understanding of HIV antiretroviral adherence behavior, HIV pathogenesis, and to address the monitoring and prevention of HIV antiretroviral treatment failure. Based on a successful pilot study in rural Uganda and favorable cost-effective estimates, the investigators will deploy the Wisepill real-time wireless adherence monitoring system to objectively monitor adherence in real time. The investigators will determine to what extent social capital mitigates economic barriers to long-term adherence and determine if the pervasive impact of stigma on adherence operates through social capital (Aim 1). The investigators will determine the relationship between missed doses, low-level viremia (between 1 and 50 copies RNA/mL), inflammation, bacterial translocation, suboptimal CD4 response, and mortality (Aim 2). Finally, The investigators will examine the relationship between complex adherence patterns and viral failure to both inform selective viral load monitoring and to lay the foundation for the first-of-kind intervention to prevent viral failure after missed doses, but before viral rebound (Aim 3). The investigators will secure behavioral and biologic data over nine years of potential treatment by recruiting 500 additional people to our existing cohort in Mbarara, Uganda for a total of 750 participants.

Eligibility: Inclusion Criteria:
  -  HIV positive patients over 18 years
  -  ART naive and initiating therapy at the Mbarara Immune Suppression Syndrome (ISS) Clinic
  -  Live within 60 kilometers of the clinic
  -  Women who have received a single dose of nevirapine for prevention of mother to child transmission, but have not received other ART, will be included
  Exclusion Criteria:
  -  Patients who do initiate therapy during the course of the study recruitment
  -  Patients who decline or are unable to give consent

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Studying Biomarkers in Samples From Patients With Recurrent or Metastatic Head and Neck Cancer Treated on E1302 Trial

Summary: RATIONALE: Studying samples of blood and tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. It may also help doctors predict how patients will respond to treatment.
  PURPOSE: This laboratory study is looking at biomarkers in samples from patients with recurrent or metastatic head and neck cancer treated on ECOG-E1302 trial.

Detailed description: OBJECTIVES:
  -  To evaluate the frequency of ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), met proto-oncogene (hepatocyte growth factor receptor) (c-MET), and v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (K-ras) polymorphisms or mutations in this study population and the predictiveness of these polymorphisms on survival, time to progression, response rate, and toxicities.
  OUTLINE: Archived tumor tissue and peripheral blood mononuclear cells are analyzed for the frequency of ABCG2, c-MET, and K-ras polymorphisms or mutations by polymerase chain reaction (PCR). Results are then correlated with patients' clinical outcomes and toxicity.

Eligibility: DISEASE CHARACTERISTICS:
  -  Patients diagnosed with recurrent or metastatic head and neck cancer treated on Eastern Cooperative Oncology Group (ECOG)-E1302 trial
  -  Patients treated with docetaxel with versus without gefitinib
  -  Existing paraffin blocks and peripheral blood mononuclear cells
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Validity of Sentinel Lymphnode Biopsy After Neoadjuvant Chemotherapy Cancer Patients With Radiologically Positive Axillary Lymph Nodes

Summary: Sentinel lymph node biopsy (SLNB) after neoadjuvant chemotherapy (NAC) is currently debatable. It is possible that the tumor response to chemotherapy may alter the lymphatic drainage thus causing lower SLN identification rate and higher false negative rate. Further, the response of NAC can be different in each lymph nodes. It is doubtful whether SLNB can accurately predict axillary lymph node (ALN) status after NAC. The aim of this study to determine the identification rate, the false-negative rate, and the accuracy of SLNB after NAC for node positive breast cancer.


Eligibility: Inclusion Criteria:
  -  Advanced breast cancer patients with node-positive proved in preoperative imaging study
  -  ECOG status 0-1
  Exclusion Criteria:
  -  No previous cancer history
  -  No previous chemotherapy history

Relevance to patient case: not relevant
Patient case: 19-year-old female with long QT syndrome; genetic feature: KCNH2

Clinical trial: Sentinel Lymph Node Total Tumoral Load as a Predictor of Non Sentinel Node Involvement in Early Breast Cancer

Summary: This is a retrospective, multicentric cohort study of patient cases with cT1-3, N0 early breast cancer, who previously had intraoperative sentinel lymph node (SLN) evaluation by one-step nucleic acid amplification (OSNA) assay with a complete axillary dissection.
  The aim of the present study is to assess the intraoperative positive SLN total tumor load (TTL) obtained from the OSNA assay and to determine whether this TTL predicts non-SLN metastasis in patients with clinically node-negative early-stage breast cancer.


Eligibility: Inclusion Criteria:
  -  Pathologically confirmed invasive breast carcinoma
  -  Stage T1-3,N0 evaluated by physical exam or imaging according to AJCC v.7 and best clinical local practices
  -  Intraoperative evaluation of sentinel lymph node (SLN) by OSNA
  -  Complete dissection of axillary lymph nodes after the evaluation of the SLNs by OSNA
  -  Pathology report of the tumor and dissected lymph nodes that includes the following information:
  -  primary tumor size (mm), tumor grade (Scarff-Bloom Richardson), estrogen receptor status
  -  progesterone receptor status
  -  HER2 status (ASCO/CAP guidelines)
  -  Ki67 index
  -  presence/absence of lymphovascular invasion
  -  total number of sentinel and non-sentinel lymph nodes dissected during surgery
  -  total number of positive and negative sentinel and non-sentinel lymph nodes, *size of the metastasis in both sentinel and non-sentinel lymph nodes
  -  total tumoral load in each sentinel lymph node, expressed as number of CK19 mRNA copies per microliter.
  Exclusion Criteria:
  -  Patients who underwent neoadjuvant chemotherapy
  -  CK19-negative breast tumor
  -  ALND with <10 lymph nodes
  -  In situ carcinoma only
  -  Metastatic breast cancer at time of diagnosis

Relevance to patient case: not relevant