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

Clinical trial: Inhaled Corticosteroids for the Treatment of Transient Tachypnea of the Newborn

Summary: Transient Tachypnea of the Newborn (TTN) is a common respiratory disorder affecting late preterm and term babies caused by lung edema resulting from delayed absorption of fetal alveolar lung fluid.
  The investigators hypothesize that ENAC expression will be up-regulated as a result of administration of corticosteroids. This effect will lead to enhanced absorption of fetal lung fluid finally treating TTN. The aim of our study will be to evaluate whether inhaled corticosteroids reduce respiratory distress and morbidity in late preterm and term neonates presenting with TTN.

Detailed description: The primary outcome measure will be the assessment of respiratory distress reflected by TTN clinical score in neonates presenting with TTN and treated with inhaled corticosteroids compared to placebo.

Eligibility: Inclusion Criteria:
  -  Late preterm and term infants (post-menstrual age ≥ 34 weeks) delivered by cesarean section or vaginal delivery
  -  Diagnosis of TTN
  -  Parents signed informed consent
  Exclusion Criteria:
  -  Meconium aspiration syndrome
  -  Respiratory distress syndrome
  -  Congenital heart disease
  -  Non respiratory disorders causing tachypnea

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

Clinical trial: Muscle Relaxation for Short Procedures

Summary: Succinylcholine is commonly used for neuromuscular relaxation for short procedures such as rigid bronchoscopy. A more modern alternative is the application of low-dose rocuronium, reversed by low-dose sugammadex. The investigators compare the intubating conditions, incidence of postoperative myalgia (POM), as well as patient satisfaction for these two muscle relaxants.


Eligibility: Inclusion Criteria:
  -  age > 18 yr
  -  scheduled for elective rigid bronchoscopy
  Exclusion Criteria:
  -  known neuromuscular disease
  -  significant hepatic or renal dysfunction
  -  family history of malignant hyperthermia
  -  known allergy to one of the drugs used in this protocol
  -  pregnancy or breastfeeding

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

Clinical trial: Dose Finding Study for Effective Reversal of a Deep Rocuronium-induced Neuromuscular Block With Sugammadex in Morbidly Obese Patients

Summary: During laparoscopic bariatric surgery, adequate muscle relaxation is important to maintain good surgical conditions. To achieve this muscle relaxation, neuromuscular transmission blocking agents, such as rocuronium (Esmeron®) are used. It sometimes happens that there is still some neuromuscular blocking activity left in the patient on awakening from anesthesia. This is called residual curarization and is known to cause postoperative complications such as impairment of respiratory function.
  Sugammadex (Bridion®) is a novel drug which selectively binds rocuronium (Esmeron®). It allows for reversing of neuromuscular transmission blocking activity. Until now, all studies with sugammadex were performed in non-obese patients.
  Obese patient have a high risk to suffer from post-operative respiratory failure. Therefore it is vital to avoid residual curarization. Sugammadex might be an important factor.
  Obese patients have a large total body weight different from ideal body weight. Recent research demonstrated that the dose for the neuromuscular blocking agent rocuronium (Esmeron®) needs to be calculated on the patients' Ideal Body Weight rather than on Total Body Weight.
  At this moment no data is available on the dose-response relationship of sugammadex in morbidly obese patients.
  We hypothesize that in morbidly obese patients sugammadex should be dosed on ideal bodyweight, instead of total bodyweight.

Detailed description: Flowchart :
  72 participants
  Stratification
  BMI<50 BMI >50
  Randomization Randomization
  TBW IBW TBW IBW
  2mg/kg n=9 2mg/kg n=9 2mg/kg n=9 2mg/kg n=9 4mg/kg n=9 4mg/kg n=9 4mg/kg n=9 4mg/kg n=9
  TBW : Total Body Weight IBW : Ideal Body Weight

Eligibility: Inclusion criteria :
  -  ASA I-II-III
  -  Age 18 - 65 year
  -  Male or female
  -  BMI > 30
  Exclusion criteria :
  -  Renal failure
  -  Liver dysfunction
  -  Breastfeeding female patients, or female patients without reliable contraception
  -  Neuromuscular disease
  -  Malignant hyperthermia or a family history of malignant hyperthermia
  -  Allergy for neuromuscular blocking agents or other medications used during general anesthesia
  -  Infectious disease or patients with fever
  -  Patients who already received rocuronium or sugammadex on the day of the study

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

Clinical trial: Intrathecal Diamorphine Versus Femoral Nerve Block in Primary Total Knee Arthroplasty

Summary: Primary total knee arthroplasty (TKA) is commonly associated with moderate to severe early post-operative pain. The primary aim of this study was to investigate the impact of either a single-shot femoral nerve block (FNB) or intrathecal diamorphine (ID) on post-operative pain after TKA
  The Null Hypothesis is that there is no difference in the post operative pain relief provided for TKA by a single-shot femoral nerve block (FNB) as compared to intrathecal diamorphine (ID).

Detailed description: In 2008, the Prospect Working Group, a multidisciplinary expert panel, published their consensus guidelines on the relative merits of different anaesthetic and analgesic techniques for TKA based on a review of the available published literature up to 2005. These guidelines supported the use of general anaesthesia combined with a femoral nerve block for surgery and postoperative analgesia, or alternatively spinal anaesthesia with local anaesthetic combined with spinal morphine. The preference for femoral nerve block in favour of intrathecal opiates was as a consequence of the greater potential for side effects with the latter technique. The authors conceded that there were a lack of well-conducted studies on this subject, graded their recommendations as level D (expert opinion), and concluded further research was needed. Consequently there has been debate around the conclusions drawn and clinicians have not universally accepted the recommendations.
  Most researchers to date have focused on short-term outcomes such as static pain scores and/or opiate consumption. It is also important however to investigate dynamic pain scores, patient reported outcomes, the attainment of rehabilitation goals, length of stay and longer term functional outcomes. In addition, the use of the total pain relief score (TOTPAR) as described by Cooper and Beaver, assesses the cumulative response to treatment. This is a well validated area under the time-analgesic effect curve (AUC) derivation for pain relief which is commonly used by meta-analyses of analgesic interventions. The aim of this study is to investigate all these endpoints in patients receiving a single-shot femoral nerve block (FNB) for TKA as compared to intrathecal diamorphine (ID), a more commonly used spinal opiate in United Kingdom anaesthetic practice.

Eligibility: Inclusion Criteria:
  -  Adult patients scheduled for primary unilateral Total Knee Arthroplasty
  Exclusion Criteria:
  -  Uni-compartmental surgery, bilateral surgery, contra-indication to spinal anaesthesia or peripheral nerve block (anticoagulation, hydrocephalus, raised intracranial pressure), allergy to local anaesthetics or diamorphine, malignant hyperthermia or other concerns over general anaesthesia, chronic opiate use and chronic pain medication use (e.g. gabapentin, pregabalin, amitriptyline).

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

Clinical trial: Low Dose Mivacurium vs. Low Dose Succinylcholine for Rigid Bronchoscopy

Summary: Succinylcholine is commonly used for neuromuscular relaxation for short procedures such as rigid bronchoscopy. A alternative is the application of low dose mivacurium, reversed with neostigmine. The investigators compare the intubating conditions, incidence of postoperative myalgia (POM), patient satisfaction and the postoperative performance with respiration exercise device for these two muscle relaxants.


Eligibility: Inclusion Criteria:
  -  age > 18 yr
  -  scheduled for elective rigid bronchoscopy
  Exclusion Criteria:
  -  known neuromuscular disease
  -  significant hepatic or renal dysfunction
  -  family history of malignant hyperthermia
  -  known allergy to one of the drugs used in this protocol
  -  pregnancy or breastfeeding

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

Clinical trial: Sevoflurane Protective Effect on Ischemia Reperfusion Injury in Microvascular Surgery

Summary: This study aimed to evaluate the possible protective effect of anesthetic technique balanced (BAL) compared to total intravenous anesthetic technique (TIVA-TCI) in ischemia reperfusion injury in microvascular flap in plastic surgery. The investigators will evaluate the viability of the flap using tissue oximetry monitoring and the level of biochemical markers in a circle at the end of the intervention.


Eligibility: Inclusion Criteria:
  -  age > 18 yr
  -  ASA (American Society of Anesthesiology) I-II
  Exclusion Criteria:
  -  Known unusual reaction to anesthetic drugs
  -  Evaluation of anesthesia increased risk for malignant hyperthermia.
  -  History of vascular disease.
  -  History of bleeding diathesis.
  -  Tabagism

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

Clinical trial: Effects of Magnesium Sulphate on Sugammadex Reversal of Rocuronium Induced Blockade in Gynaecology Patients

Summary: Background: The aim of this prospective study was to evaluate the effect of magnesium on the reversal of rocuronium-induced neuromuscular block by sugammadex.
  Methods: Eighty patients, aged 18 to 60 years, American Society of Anesthesiologists I-II, undergoing elective gynecological surgery were enrolled. Anaesthesia was induced with propofol and fentanyl and was maintained with 60% nitrous oxide and Oxygen in sevoflurane. The magnesium group received 50 milligram/kilogram (mg/kg) Magnesium intravenous (iv) as a bolus and 15 mg/kg/hour by continuous infusion until the completion of surgery. The placebo group received the equivalent volume of isotonic saline. For intubation, 0.6 mg/kg rocuronium was administered and 0.1 mg/kg was added when Train of four (TOF) counts reached 1 or more during the procedure. At the end of the surgery at a TOF count of 1, 4 mg/kg sugammadex iv was administered. Patients were observed until a TOF ratio of 0.9 was achieved. Patient-controlled analgesia with intravenous morphine was used postoperatively.

Detailed description: Inclusion criteria:
  -  American Society of Anesthesiologists physical status I or II
  -  18-60 years of age
  -  undergoing elective gynecological surgery
  -  requiring endotracheal intubation
  Exclusion criteria:
  -  Patients who had body mass index > 35
  -  gastroesophageal reflux
  -  a history of allergy
  -  used medication known to interact with the drugs being used in this trial
  -  who experienced expected or unexpected difficulty during intubation or ventilation
  -  had neuromuscular disease
  -  hepatic or renal insufficiency
  -  pregnant
  -  were American Society of Anesthesiologists III or IV
  -  had a family history of malignant hyperthermia
  -  detection if low or high control plasma magnesium levels

Eligibility: Inclusion Criteria:
  -  female patients
  -  American Society of Anesthesiologists (ASA) physical status I or II
  -  18-60 years of age who were undergoing elective gynecological surgery
  -  requiring endotracheal intubation were enrolled in this prospective study.
  Exclusion Criteria:
  -  Patients who had body mass index > 35
  -  gastroesophageal reflux
  -  a history of allergy
  -  used medication known to interact with the drugs being used in this trial
  -  who experienced expected or unexpected difficulty during intubation or ventilation
  -  had neuromuscular disease
  -  hepatic or renal insufficiency
  -  were pregnant
  -  had a family history of malignant hyperthermia
  -  detection if low or high control plasma magnesium levels

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

Clinical trial: Evaluation of a Non-invasive Device to Measure Blood Pressure and Difference in Pulse Pressure (dPP) Intraoperatively

Summary: Dynamic parameters like pulse pressure Variation (PPV) , synonymous: difference in pulse pressure (dPP), can predict fluid responsiveness reliably (Marik PE et al, Crit Care Med 2009; 37:2642-7). An arterial line is required for assessment of dPP. On a modified Penaz technique, a non-invasive measurement device is now available commercially. In this study, the reference technique based on arterial measurement and a respiratory variation monitor (Pestel G et al, Anesth Analg 2009; 108:1823-9) was compared to the non-invasive device a clinical setting. At defined time points, systolic, diastolic, mean arterial blood pressure and dPP were compared using Bland-Altmann Analysis (Bland JM, Altman DG, Lancet 1986; 1: 307-10)


Eligibility: Inclusion Criteria:
  -  Age > 18 and < 80 years old
  -  Written informed consent obtained
  -  Patients scheduled for elective urological or abdominal surgery procedures in supine position
  -  qualifying for arterial line
  Exclusion Criteria:
  -  pregnancy
  -  cardiac insufficiency (NYHA 4, EF < 25 %)
  -  coronary artery disease (CCS 4)
  -  coagulopathy
  -  symptoms of infection or sepsis
  -  malignant hyperthermia
  -  absence of sinus rhythm
  -  BMI > 30
  -  M. Raynaud

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

Clinical trial: A Study Evaluating The Safety Of PF-05280014 And Trastuzumab In Healthy Male Volunteers (REFLECTIONS B327-06)

Summary: This study is to prove that there is no difference in the number of healthy male volunteers that will experience pyrexia (i.e. fever with body temperature of 38°C or higher) within a 24 hour period after administration of a single dose of 6mg/kg of PF-05280014 or trastuzumab sourced from the United States (trastuzumab-US). The study will also compare the safety of both drugs.

Detailed description: Safety evaluation.

Eligibility: Inclusion Criteria:
  -  Body Mass Index (BMI) of 17.5 to 30.5 kg^m2; and a total body weight >50 kg (110 lbs).
  -  Left ventricular ejection fraction (LVEF) within the normal range as measured by echocardiogram (ECHO) within 8 weeks prior to randomization.
  -  Subjects who have previously been exposed to a biologic agent (other than a HER2 inhibitor) may enroll provided that at least 3 months have passed since the last administration of that drug.
  Exclusion Criteria:
  -  Evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, neurologic, or allergic disease (including drug allergies, but excluding untreated, asymptomatic, seasonal allergies at time of dosing).
  -  Previous exposure to an anti-HER2 antibody.
  -  History of serious allergic or anaphylactic reaction to a therapeutic drug or benzyl alcohol.

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

Clinical trial: Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD

Summary: The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers).
  Genome wide analysis will be performed in families without mutations identified.

Detailed description: -  Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
  -  Characterization of the Phenotype
  -  Collect DNA sample
  -  Analysis of PKD1 and PKD2 genes first
  -  Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
  -  Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
  -  Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees

Eligibility: Inclusion Criteria for the proband :
  -  Patients with a diagnosis of ADPKD
  -  Written Informed Consent
  -  Affiliated or benefiting from a national insurance
  Inclusion Criteria of the relatives (affected or non affected) :
  -  Relatives with a diagnosis of ADPKD (ADPKD relatives)
  -  And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30.
  -  Written Informed consent
  -  Affiliated or benefiting from a national insurance
  Exclusion Criteria for the Probands:
  -  Subjects unable to provide written informed consent
  -  Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
  Exclusion criteria for the Relatives:
  -  Subjects unable to provide written informed consent
  -  Age under 30 for the "non-affected" relatives

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

Clinical trial: Effect of Oncothermia on Improvement of Quality of Life in Unresectable Pancreatic Cancer Patients

Summary: Patients with pancreatic cancer often suffer from pain. Because of such a pain, their quality of life have seriously deteriorated. There have been a few studies that showed an effect for pain control by hyperthermia (heating the patient's body). However, there are several limitations in conventional hyperthermia. In this study, the investigators tried to show the effect of "Oncothermia" which is more selective to malignant tissue than conventional hyperthermia for pain control, increasing quality of life, and anti-tumor treatment.


Eligibility: Inclusion Criteria:
  -  Inoperable or recurred pancreatic ductal adenocarcinoma
  -  After the each cycle of chemotherapy, the disease status was "stable disease"
  Exclusion Criteria:
  -  Person who has an experience of hyperthermia treatment
  -  Person who has a difficulty of sensing heat
  -  Person who has a skin graft or breast reconstruction surgery
  -  Person who has a cardiac pacemaker or an implanted metal
  -  Pregnant or breast feeding women
  -  Person with uncontrolled infection, diabetes, hypertension, ischemic heart disease, myocardial infarct within 6 months
  -  Person who was treated with unproved drugs within 6 months
  -  Person who have a serious disease which can affect the person's safety
  -  Person who do not consent to the study

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

Clinical trial: Ivacaftor in French Patients With Cystic Fibrosis and a G551D Mutation

Summary: The purpose of this study is to determine whether the treatment with Ivacaftor remains effective and safe in the patients with cystic fibrosis (and at least one G551D CFTR mutation) in the real life setting, after the drug has been approved by the Health authorities.

Detailed description: The aims of our study are:
  1. to describe the treated population at initiation of treatment,
  2. to evaluate clinical parameters during the year before Ivacaftor was started, at initiation of treatment and during at least one year of treatment, until June 2014.
  3. to evaluate the tolerance and safety of this treatment.

Eligibility: Inclusion Criteria:
  -  French patients with CF aged 6 or older who are homozygous or heterozygous for the G551D mutation
  -  Treated with Ivacaftor
  -  First prescription of Ivacaftor before June 1st 2013 (including patients randomized in the VX770 clinical trials)
  Exclusion Criteria:
  -  CF patients younger than 6 years old
  -  CF patients who have received lung transplantation
  -  CF patients without a G551D mutation.

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

Clinical trial: Cardioprotection by Sevoflurane Preconditioning in Noncardiac Thoracic Surgery

Summary: It has been shown that the use of volatile anaesthetics, that are usually used to perform a general anesthesia, have cardioprotective properties. This has been shown in animal studies and in patients that underwent cardiac surgery. The aim of our study is to examine if Sevoflurane, a volatile anaesthetic, has this properties in patients undergoing lung surgery.


Eligibility: Inclusion Criteria:
  -  Lung surgery
  -  ASA (American Society of Anesthesiologists) physical status 1-3
  Exclusion Criteria:
  -  Disposition for malignant hyperthermia
  -  Medication with ß-blocking drugs
  -  Use of clonidin

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

Clinical trial: Interaction of Statins and Nondepolarizing Muscle Relaxants

Summary: provide evidence for prevention or reduction muscle pain.

Detailed description: The purpose of this study is to determine interaction of statins and nondepolarizing muscle relaxant,In order to provide evidence for prevention or reduction muscle pain.

Eligibility: Inclusion Criteria:
  -  Patients with American Society of Anesthesiologists physical status I-III
  -  Patients taking statins for at least 3 months and those who had never used statins were considered to be eligible
  Exclusion Criteria:
  -  Orthopedic
  -  Spinal surgery
  -  Surgery involving extensive muscle manipulation
  -  History of liver and kidney failure
  -  Neuromuscular disease
  -  Susceptibility to or family history of malignant hyperthermia
  -  Extensive denervation of skeletal muscle
  -  Chronic pain syndromes
  -  Taking medications that might interact with the effect of rocuronium or serum myoglobin difficult intubation

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

Clinical trial: Effects of Neuromuscular Blockade Level and Intra-abdominal Pressure on Surgical Conditions and Cardiopulmonary Responses During Laparoscopic Colon Surgery With the Trendelenburg Position

Summary: The purpose of this study is to find out the effect of low abdominal pressure vs. standard abdominal pressure on the cardiac and respiratory function of the patients undergoing laparoscopic colon surgery in Trendelenberg position. It was also designed to evaluate the effect of the degree of neuromuscular blockade on the surgical condition of the patients undergoing laparoscopic colon surgery in Trendelenberg position.


Eligibility: Inclusion Criteria:
  -  Patients scheduled for laparoscopic colon surgery under Trendelenberg position
  Exclusion Criteria:
  -  ASA classification IV
  -  Unable to make a written, informed consent
  -  Allergic to neuromuscular blocking agents, anesthetics, opioids
  -  Patients with neuromuscular disease
  -  Hepatic failure
  -  Renal failure
  -  History of malignant hyperthermia
  -  Morbid obesity with BMI>35 kg/m2
  -  Patients enrolled in another clinical trials

Relevance to patient case: not relevant