araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Safety Study of Dantrolene in Subarachnoid Hemorrhage

Summary: Subarachnoid hemorrhage (SAH) is a devastating acute brain injury due to bleeding onto the brain surface from a ruptured aneurysm. Cerebral vasospasm (cVSP; critical narrowing of brain arteries) is a known complication after SAH and significantly increases disability and death after SAH. Vasospasm is difficult to treat and can lead to stroke. Animal studies have shown that the muscles in the artery wall play a role in cVSP.
  Dantrolene has been FDA approved and extensively used in clinical practice as a muscle relaxant for more than 30 years. It has been shown to provide some benefit in animal studies of cVSP, as well as in a small number of humans. However, the first human studies have only been observational and over a short period of time.
  This study will evaluate the safety and tolerability of intravenous dantrolene given every 6 hours over seven days to patients with or at risk for cVSP after SAH. The goal is to determine if future efficacy studies should be done to determine if treatment with Dantrolene may improve the outcome of patients with cVSP after SAH.

Detailed description: Once eligibility criteria are met, patients will be randomized to either dantrolene-IV or placebo (equiosmolar, volume-equivalent sterile water with 5% mannitol as dantrolene-IV also contains 5% mannitol). Study subjects will be visited daily by a study nurse to determine side effects, tolerability, record hemodynamic measures and laboratory values. Patients will have daily serum Na, osmolality, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and alkaline phosphatase (ALK) measured. In addition, daily bedside transcranial doppler will be performed by a blinded examiner. Patients will undergo cerebral angiograms per clinical routine. Angiographic measurements of arterial narrowing will be performed by a blinded radiologist. Specific stop criteria are pre-defined.

Eligibility: Inclusion Criteria:
  -  Documented aneurysmal SAH by computed tomography angiography (CTA), magnetic resonance angiography (MRA) or angiography
  -  Secured aneurysm (coiled or clipped)
  -  Enrollment achievable within 14 days after SAH
  Exclusion Criteria:
  -  Pregnancy
  -  Prior history of cirrhosis or hepatitis B/C, or any two of the following three liver enzymes elevated to greater than: ALT >120 Units/L, AST >120 Units/L, alkaline phosphatase >345 Units/L (three times upper limit of normal)
  -  Patients on verapamil
  -  Patients with brain edema and/or elevated intracranial pressure (>25mm Hg)
  -  Patients treated with hypertonic saline or mannitol prior to enrollment
  -  Patients with too severe SAH with low likelihood of survival (Hunt & Hess 5)

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Trial of Erlotinib in Patients With JAK-2 V617F Positive Polycythemia Vera

Summary: The primary objective of this study is to determine the overall response rate to erlotinib in patients with polycythemia vera (PV). Response rate will be assessed by improvement in the complete blood count, ultrasound of the spleen, and JAK2 molecular status. It is purposed in this study to explore a possible molecular targeting of the driving mechanism of PV.

Detailed description: This is a phase II open-label study. Patients will be screened for MPN diagnoses and patients with Polycythemia vera proven to have JAK2V617F mutation will be given the option to enroll. Consenting patients will take erlotinib daily for 16 weeks. Blood work and pharmacokinetics will be drawn for serum level monitoring. Doses will be administered according to side effects or held. First assessment will be at day 15 wth subsequent assessments at 28 day intervals. Non-responders will be taken off the study and managed according to standard of care. Patients who do respond will continue taking the therapy for a total of 12 months. Observation will be for a total of 12 months after finishing treatment. In addition to the clinical aspect of this study, there will be correlative studies where molecular response will be checked and its correlation with clinical response.

Eligibility: Inclusion Criteria:
  -  WHO 2008 diagnosis of Polycythemia Vera Hemoglobin > 18.5 g/dl for men (16.5 g/dl for women) and presence of JAK2V617F mutation and either bone marrow trilineage myeloproliferation or subnormal serum erythropoietin level Patients may be on active treatment (phlebotomy, aspirin) ECOG performance status 0,1,2,or 3 Adequate hepatic function, adequate renal function
  Exclusion Criteria:
  -  Patient with active malignancy Patients with clinically significant cardiac disease within 1 year Opthalmologic or gastrointestinal abnormalities Concurrent cytoreductive therapy is not allowed

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Prophylactic Continuous Positive Airway Pressure (CPAP) in Delivery Room, in the Prevention of Transient Tachypnea of Newborn (TTN): A Randomized Controlled Trial

Summary: Transient Tachypnea of the Newborn (TTN) is a disorder of delayed clearance of lung liquid and a common cause of admission of full term infants and late pre term infants (34 to 36 weeks) to Neonatal Intensive Care Units (NICU). Both late preterm gestational age at delivery, and mode of delivery are considered risk factors for TTN. The investigators hypothesize that CPAP administered prophylactically in the Delivery Room via a T piece based infant resuscitator Neopuff, to neonates at increased risk for TTN, would decrease the incidence of TTN and thus decrease the need for hospitalization in the NICU. This is a pilot study to evaluate the prophylactic administration of CPAP in the Delivery Room towards prevention of TTN and it's effects on natriuretic peptides.The study will be conducted as a randomized control trial after obtaining informed consents from the parents of eligible infants. Infants will be randomized to receive either experimental treatment (prophylactic CPAP) or standardized care.


Eligibility: Inclusion Criteria:
  -  Babies born to mothers via elective CS: elective CS defined as planned CS in the absence of Labor.
  -  Late preterm infants (34 1/7 to 36 6/7 weeks gestational age)
  Exclusion Criteria:
  -  Presence of any of the risk factors for neonatal sepsis such as Prolonged Rupture of Membranes for ≥18 hours (PROM), maternal fever, maternal chorioamnionitis or positive maternal GBS colonization
  -  Need for use of PPV for perinatal depression or other indications
  -  Presence of any of the following
  -  congenital malformations (diagnosed prenatally)
  -  chromosomal anomalies (diagnosed prenatally)
  -  congenital heart disease diagnosed by fetal echocardiography.

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Dose Titration of Propofol for Tracheal Intubation in Children With Sevoflurane Inhalation Induction

Summary: Dose titration of propofol for tracheal intubation in children with sevoflurane inhalation induction.


Eligibility: Inclusion Criteria:
  -  Pediatric patients scheduled for elective day case surgery were enrolled.
  Exclusion Criteria:
  -  History of obstructive sleep apnea
  -  Evidence of cardiorespiratory disease
  -  Those who were obese or allergic to any of the anesthetic agents in this study
  -  Those with an anticipated difficult airway, full stomach
  -  History of malignant hyperthermia or other myopathy were excluded.

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: The Impact of Post-tetanic Count on Subsequent Train-of-four During Recovery From Rocuronium

Summary: The purpose of this study is to see how long does the effect of a post-tetanic facilitation last on subsequent train-of-four. The investigators hypothesis is that the effect last at least 30 minutes.


Eligibility: Inclusion Criteria:
  -  Patient having general anesthesia in dorsal decubitus with both arm available for at least an hour and a half
  Exclusion Criteria:
  -  Age >75 or <18
  -  Neuromuscular disease
  -  difficult laryngoscopy predicted
  -  Allergy to rocuronium
  -  Malignant hyperthermia
  -  Full stomach
  -  Drugs the influence neuromuscular blockers
  -  Decision of the clinician to exclude his patient

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Sugammadex Improves Muscle Function After Standard Neuromuscular Recovery

Summary: This study is designed to investigate, whether Sugammadex improves muscle function after standard neuromuscular recovery (TOF 0.9) from relaxation with rocuronium.

Detailed description: Muscle relaxants are an integral part of today's anesthesia. They improve intubating conditions and reduce doses of other substances needed for general anesthesia. For ensuring patient safety, neuromuscular function is monitored during general anesthesia. The latter one is only terminated, when neuromuscular monitoring shows an objective normal value. Despite this accurate surveillance, a lot of patients complain about subjectively uncomfortable muscle weakness in the recovery room. A possible explanation for this ostensive contradiction can be the variable "margin of safety" of neuromuscluar transmission in different muscle groups. Waud et al describe this phenomenon, as the fact, that neuromuscular transmission is only clinically detectable, when a certain number of post-synaptic receptors is not blocked. The necessary fraction of free receptors differs a lot between the muscle groups (15-50%). As neuromuscular monitoring only measures one muscle group exemplarily, and a clinically non-detectable number of post-synaptic receptors can be blocked shortly after anesthesia, the subjective muscle weakness of patients could need treatment.
  Sugammadex can encapsulate steroid-typ muscle relaxants within 2 to 5 minutes. After applying a sufficiently high dose, also those receptors will be free that elude neuromuscular monitoring. This constellation brings up the interesting problem to quantify the possible effect on patients' subjective muscle weakness.
  This study is designed to investigate, if the application of sugammadex improves muscle function and consequently well-being of patients, that have been extubated according to clinical standard.

Eligibility: Inclusion Criteria:
  -  ASA physical stauts II - III
  -  Age: 18 - 65 years
  -  Patients scheduled for general anesthesia with intubation using rocuronium
  -  Patients have given informed consent to the study
  -  Patients receiving the investigational drug within 15 minutes after neuromuscular recovery to a TOF 0.9
  -  Sufficient knowledge of the German language
  Exclusion Criteria:
  -  known or suspected neuromuscular disease
  -  significant hepatic or renal dysfunction
  -  known or suspected history or family history of disposition to malignant hyperthermia
  -  known or suspected allergy towards sugammadex, anesthetics, muscle relaxants, or other drugs used for general anesthesia
  -  Use o drugs that interfere with sugammadex
  -  Patients included in another trial within the last 30 days
  -  Patients with legal guidant
  -  Patients with contradiction towards the use of Sugammadex
  -  Pregnant women
  -  Breast-feeding women

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Study of the Safety and Efficacy of Dichloroacetate (DCA) in Glioblastoma and Other Recurrent Brain Tumors

Summary: The purpose of this study is to evaluate the safety and tolerability of oral Dichloroacetate (DCA) in the treatment of recurrent malignant brain tumors (RMBTs). RMBTs are defined as either: 1) malignant tumors, originating in the brain, that have recurred at least once or 2) malignant tumors originating elsewhere in the body that have spread to the brain at least once. Otherwise, there are no limitations to the number of prior recurrences. There are no limitations to the number or types of prior therapies.

Detailed description: Malignant brain tumors are defined as any World Health Organization grade III-IV glioma and any solid tumor metastasis (spread) to the brain. Recurrent malignant brain tumors (RMBTs) are defined as either: 1) malignant tumors, originating in the brain, that have recurred at least once or 2) malignant tumors originating elsewhere in the body that have spread to the brain at least once. They share an increasing incidence, clinical and radiographic characteristics, lack of effective therapies, tendency to recur, and poor outcome. Importantly, recurrent malignant brain tumor's shared characteristics may be usefully exploited by an emerging class of biologic agents called metabolic modulators of which Dichloroacetate (DCA) is the drug in the class most thoroughly investigated clinically. DCA's mechanism of action and tolerability have been extensively demonstrated in the treatment of chronic metabolic disorders. Furthermore, the preciseness of DCA's mechanism of action appears to target abnormal tumor cell metabolism.

Eligibility: Inclusion Criteria:
  -  Subject must be able to consent for self. Subject must have either:
  1. a brain metastasis or
  2. a WHO III-IV glioma that has recurred at least once. Females of child bearing age must have (-) pregnancy test.
  -  Females of child bearing age must use birth control while in study.
  -  Adequate organ function as determined by laboratory testing.
  -  Absence of peripheral neuropathy of moderate or greater severity (physician determined).
  -  Greater than 4 weeks time from previous anti-neoplastic (anti-cancer) therapy.
  -  Subject must have a Karnofsky Performance Status (KPS) of greater than or equal to 60.
  -  Subject must have an ECOG performance status of less than or equal to 2.
  -  There are no limitations to the number of prior recurrences.
  -  There are no limitations to the number or types of prior therapies.
  Exclusion Criteria:
  -  Medical contraindication for magnetic resonance imaging (MRI)testing.

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Postoperative Fatigue and Nausea Related to Choice of Anaesthetic Regimens

Summary: The purpose of this study is to establish validated outcome measures for Postoperative Fatigue and Postoperative nausea, and to compare clinical impact of postanaesthetic symptoms during first week after Propofol or Desflurane based anaesthesia.


Eligibility: Inclusion Criteria:
  -  Patients scheduled for day-surgery laparoscopic cholecystectomy
  -  The patient is able to read and comprehend Norwegian language
  -  The patient is cognitive adequate and able to fill in survey forms
  -  The patient has read and signed patient information form
  Exclusion Criteria:
  -  Serious illness (ASA 3-4)
  -  Pregnancy or suspected pregnancy
  -  Breastfeeding women
  -  Contraindications to use of NSAIDs
  -  Serious allergic reaction to anaesthetics
  -  Allergy towards egg, soya or peanuts
  -  Known or suspected Malignant Hyperthermia or Porphyria
  -  Fatigue-related diagnosis
  -  Recently received adjuvant therapy (chemotherapy, radiotherapy)
  -  Severe chronic pain

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Efficacy of Antenatal Steroids in Reducing Respiratory Morbidities in Late Preterm Infants

Summary: The hypothesis of the study is that administration of antenatal steroid to women at high risk of preterm birth after 34 weeks of gestation would reduce the risk of respiratory complications, specifically Respiratory Distress Syndrome (RDS) or Transient Tachypnea of the Newborn (TTN) in late preterm babies.


Eligibility: Inclusion Criteria:
  -  Women between 34 0/7- 36 6/7 weeks of gestation
  -  High risk of preterm birth
  Exclusion Criteria:
  -  Multiple births
  -  Fetal congenital malformations
  -  A course of steroids within 2 weeks of randomization
  -  Multiple courses of steroids
  -  Chorioamnionitis
  -  Non reassuring fetal heart rate
  -  Obstetrical indication of delivery
  -  Active bleeding
  -  Pregnancy related hypertensive disorders
  -  Uncontrolled diabetes

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Optimal Dose of Propofol for Induction of Deep Sedation for Brain MRI Scanning in Children With Cerebral Palsy

Summary: The children with CP has been shown different drug responses from the normal population of children and it may related with a various oral medications such as baclofen, tizanidine, diazepam, dantrolene, or anticonvulsant drugs.
  The aim of this study is to establish the optimal induction dose of propofol for deep sedation to start MRI for < 30 min in children with CP.


Eligibility: Inclusion Criteria:
  -  children with cerebral palsy with patient agreement
  Exclusion Criteria:
  -  sleep apnea, difficult airway, cardiorespiratory disease, allergic history to propofol

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: Prolonged Grief and Suicide Among Veterans

Summary: The primary research question in this study will ask, among those receiving outpatient mental health services (MHS) at the Eastern Colorado Healthcare System (ECHCS)/Denver Veterans Affairs Medical Center (VAMC), how many suffer from Prolonged Grief Disorder (PGD)? Here, it is hypothesized that PGD will occur within the sample. A secondary aim of this study will be to investigate how often PGD co-occurs with posttraumatic stress disorder (PTSD) and/or depression. Also, while PGD has been shown to have an effect on self-directed violence (SDV) among civilians (Prigerson, Bridge et al., 1999), no studies yet have examined the relationship between PGD and SDV among Veterans. Therefore, it also is hypothesized that as PGD severity increases among the Veteran sample, risk for SDV will increase as well. Additional research aims also will be addressed in this study. For one, it will be assessed which grief symptoms are most often reported among the Veteran sample. Also, no study has yet to examine if there are neuropsychological differences between PGD and PTSD. Therefore, another research question here is whether PGD indeed is neuropsychologically different from PTSD. Here, the exploratory hypothesis is that PGD sufferers will respond to a measure of multiple components of cognition (e.g., planning, sequencing, concentration, multitasking, and memory efficiency) in a manner that is significantly different from PTSD sufferers.


Eligibility: Inclusion Criteria:
  -  Age 18 and above
  -  Not currently active duty in any branch of the military
  -  English-speaking
  -  Ability to adequately respond to specific questions regarding the informed consent procedure.
  -  Active case in Mental Health Services (MHS) at the Eastern Colorado Healthcare System (ECHCS)/Denver Veterans Affairs Medical Center (VAMC)
  Exclusion Criteria:
  -  Currently active duty in any branch of the military
  -  Non-English-speaking
  -  Inability to adequately respond to questions regarding the informed consent procedure.

Relevance to patient case: not relevant
Patient case: 54-year-old male with malignant hyperthermia; genetic feature: RYR1

Clinical trial: High Flow Nasal Cannula Versus Bubble Nasal CPAP for the Treatment of Transient Tachypnea of the Newborn in Infants ≥ 35 Weeks Gestation

Summary: The primary objective is to determine whether High Flow Nasal Cannula (HFNC) is a superior respiratory modality for neonates ≥36 weeks with transient tachypnea of the newborn (TTN) when compared to the standard of care modality (NCPAP).

Detailed description: Transient Tachypnea of the Newborn, fetal lung fluid retention causing poor lung compliance and atelectasis, is a common entity in neonates ≥ 36 weeks in our unit. Currently our standard of care includes using the respiratory modality of bubble nasal continuous positive airway pressure (BNCPAP) to support these neonates during this illness. BNCPAP provides positive distending pressure to recruit alveoli and prevent atelectasis, however, it is associated with air leak (pneumothorax, pneumomediastinum), nasal irritation and necrosis, and intolerance. HFNC is another respiratory modality that uses high flow gas that also provides positive distending pressure and thus prevents atelectasis. This modality does not cause nasal irritation or necrosis and has a minimal risk of air leak. We postulate that HFNC is a superior modality to BNCPAP in treating neonates ≥ 36 weeks with TTN. This will be determined by comparing the duration of respiratory support (in hours) for newborns ≥ 36 weeks gestation with a diagnosis to TTN randomized to receive either NCPAP or HFNC for respiratory care.

Eligibility: Inclusion Criteria:
  -  gestational age ≥ 35 weeks
  -  diagnosis of TTN, defined as respiratory rate >60, presence of subcostal and /or intercostal retractions, nasal flaring, grunting, oxygen saturations 70-93% on room air, and radiological evidence of perihilar streaking and patchy infiltrates
  -  admission to the NICU at Mount Sinai hospital within first 24 hours of life
  Exclusion Criteria:
  -  gestational age < 35 weeks
  -  history of thick meconium stained fluid and/or diagnosis of meconium aspiration syndrome
  -  diagnosis of major congenital pulmonary or cardiac anomalies
  -  initial CXR demonstrating air leak
  -  respiratory distress first occurring after 24 hours of life
  -  presumptive diagnosis of RDS as indicated by the need for FiO2 > 40%, severe retractions and grunting with poor air entry, and diffuse alveolar consolidation on chest radiograph

Relevance to patient case: not relevant