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

Clinical trial: CAR-T Therapy in Relapsed or Refractory Haematopoietic and Lymphoid Malignancies

Summary: This is an open, single-arm, phase I clinical study to evaluate efficacy and safety of chimeric antigen receptor T cell immunotherapy (CAR-T) in the treatment of hematopoietic and lymphoid malignancies. A total of 30 patients are planned to be enrolled over a period of 2 years.

Detailed description: Chimeric antigen receptor (CAR)-modified T cells targeted against CD19 have demonstrated unprecedented successes in treating patients with hematopoietic and lymphoid malignancies. Besides CD19, many other molecules such as CD22, CD30, CD7, BCMA, CD123, etc. may be potential in developing the corresponding CAR-T cells to treat patients whose tumors expressing those markers. Investigators have developed a high efficient platform for constructing different CARs and preclinical studies have demonstrated effective killing of corresponding target cells. In this study, investigators will evaluate their safety and efficacy in patients with different types of hematopoietic and lymphoid malignancies. The primary goal is safety assessment including cytokine storm response and any other adverse effects. In addition, tumor targeting and disease status after treatment will also be evaluated.

Eligibility: Inclusion Criteria:
  1.The treat history meeting the following criteria:
  1. Recurrence of lymphoma patients with imaging (CT/MRI/PET-CT) detection and pathological diagnosis, or recurrence including bone marrow morphology relapse and the MRD recurrence of myeloma patients or leukemia patients, after chemotherapy or stem cell transplantation;
  2. Can't get complete remission (including MRD positive) after more than twice repeated chemotherapy of incipient lymphoma, myeloma or leukemia patients;
  3. One or twice chemotherapy cannot get remission again (including MRD positive), but not suitable for chemotherapy of incipient lymphoma, myeloma or leukemia patients.
  2. There is a measurable lesions before treatment at least; 3. ECOG score≤2; 4. To be aged 1 to 70 years; 5. More than a month lifetime from the consent signing date
  Exclusion Criteria:
  1. Serious cardiac insufficiency, left ventricular ejection fraction＜50;
  2. Has a history of severe pulmonary function damaging;
  3. Merging other malignant tumor;
  4. Merging uncontrolled infection;
  5. Merging the metabolic diseases (except diabetes);
  6. Merging severe autoimmune diseases or immunodeficiency disease;
  7. patients with active hepatitis B or hepatitis C;
  8. patients with HIV infection;
  9. Has a history of serious allergies on Biological products (including antibiotics);
  10. Happened in 3 ~ 4 acute GvHD after allogeneic hematopoietic stem cell transplantation on recurring patients
  11. Pregnancy or lactation women;
  12. Any situation that would increase dangerousness of subjects or disturb the outcome of the clinical study according to the researcher's evaluation.

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

Clinical trial: PRKAA2 Genetic Polymorphisms and Its Susceptibility to Chinese Type 2 Diabetes Mellitus and Diabetic Nephropathy

Summary: Metformin is a classical oral antidiabetic drug, often recommended to be the first-choice treatment of type 2 diabetes mellitus (T2DM). Based on the previous research on PRKAA2, STK11 and diabetes, this study aimed to investigate the distributive characteristic of PRKAA2 and STK11 polymorphisms and the potential influence of STK11polymorphisms on metformin efficacy among Chinese T2DM patients, discuss the association of PRKAA2 polymorphisms between T2DM patients and healthy subjects.


Eligibility: Inclusion Criteria:
  -  diagnosed with T2DM in keeping with the WHO criteria in 1999 [14], with fasting blood glucose (FBG) ≥ 7.0mmol ⁄ L and ⁄ or postprandial blood glucose (PBG) ≥ 11.1mmol ⁄ L; not using other antidiabetic drugs within the experimental period.
  Exclusion Criteria:
  -  other significant illness such as cancer, myocardial infarction, stroke, severe liver, and kidney disease

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

Clinical trial: Plasma Concentrations of Calcium, Phosphate, FGF23, Klotho, 25 (OH) D3 and 1,25 (OH) 2D3 From Patients Who Wants to Have Children

Summary: 1,25-dihydroxy-vitamin D3 (1,25 (OH) 2D3) or calcitriol regulates plasma calcium and phosphate concentrations in the blood by stimulating intestinal absorption and renal reabsorption of calcium and phosphate. 1.25 (OH) 2D3 is formed by the renal 1α25OH vitamin D-hydroxylase (Cyp27b1) and inactivated by the renal 25-hydroxy vitamin D-24-hydroxylase (Cyp24). Unpublished studies in mice revealed an inhibitory effect of 1.25 (OH) 2D3 on embryo implanation. An excess of 1.25 (OH) 2D3 could therefore lead to female infertility. The excess of 1.25 (OH) 2D3 could result from uncritical vitamin D intake with insufficient negative feedback by FGF23 / Klotho. The aim of the study is to identify patients with an excess of 1.25 (OH) 2D3.

Detailed description: The physiological institute of the University Tübinge has succeeded in preventing vascular calcification in Klotho-deficient mice by inhibiting osteogenic signal transduction. The animals reach an almost normal life span despite increased 1.25 (OH) 2D3, Ca2 + and phosphate plasma concentrations. The male animals are again fertilized, but not the female animals. However, if the plasma concentrations of 1.25 (OH) 2D3 are normalized by administration of a vitamin-poor diet, the female animals are fertilized within two weeks. Further investigations revealed an inhibitory effect of 1.25 (OH) 2D3 on the implantation of the embryo. In the meantime the 1,25 (OH) 2D3-dependent signal transduction could be revealed, which prevents the implantation of the embryo. The vitamin D receptor and the elements of signal transduction are also expressed in the human endometrium. It is therefore possible that increased 1.25 (OH) 2D3 plasma concentrations also prevent embryo implantation in humans.

Eligibility: Inclusion Criteria:
  -
  Exclusion Criteria:
  -  Known systemic diseases, e.g. Autoimmune disease, scleroderma, malignant disease

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

Clinical trial: Comparison Manufactured Rib Splint With Hand-made Rib Splint

Summary: A pilot study for a prospective randomized clinical trial was conducted to compare subjects using the CCO (Group-A) with those using the ER-splint (Group-B) before and after the intervention.
  The primary outcome was difference in the level of pain based on the visual analogue scale (VAS) between before and after intervention in each group during forceful and resting respiration.
  VAS : Visual analogue scale CCO : Chrisofix® Chest Orthosis

Detailed description: Investigators performed VAS assessments to determine the level of pain in the subjects with RFs during resting and forceful respiration. Investigators applied either the CCO rib splint or the ER splint to the RF subjects in a randomized order. At 30 minutes after splint application, investigators repeated the VAS assessments during resting and forceful respiration. Subsequently, additional pain control was provided via intravascular drug injection.
  RF : Rib fractures VAS : Visual analogue scale CCO : Chrisofix® Chest Orthosis

Eligibility: Inclusion Criteria:
  -  Subjects who have rib fractures and age was over 18 years old
  Exclusion Criteria:
  -  Investigators excluded subjects with cardiopulmonary dysfunction, poly-trauma, flail chest, damage to an internal organ, or alcoholism and subjects who did not consent to participate.

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

Clinical trial: Patient Navigation for Colorectal Cancer Screening for Patients With Mental Illness and/or Substance Use Disorder

Summary: The investigators propose to develop, implement, and evaluate a novel Colorectal (CRC) screening patient navigator program for patients with Mental Health (MH) and /or Substance Use Disorder (SUD) receiving care at Massachusetts General Hospital Charlestown. The study will involve randomly assigning eligible patients to early intervention or usual care/delayed intervention groups. The investigators believe this random assignment is ethical because Patient Navigation (PN) is an extremely limited resource, and all patients identified as eligible could not be contacted by the navigators in a short period of time. Thus the investigators will randomly assign access to PN during the study period, and then allow all patients to be navigated and screened after the study period is over. As a result, all eligible patients will be referred for PN, but the timing of the referral will be randomly assigned.


Eligibility: Inclusion Criteria:
  -  adult patients aged 50-75 years who are not up to date on CRC screening (did not have had CRCs colonoscopy in the last 10 years or sigmoidoscopy in the last 5 years or fecal occult blood within last 12 months)
  -  receive care at MGH Charlestown
  -  have documented history of MH or SUD in electronic medical record
  Exclusion Criteria:
  -  subsequently identified as having died prior to study intervention
  -  patients with total colectomy

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

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

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


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

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

Clinical trial: Use of a Hand-held Digital Cognitive Aid in Simulated Cardiac Arrest.

Summary: Cardiac arrest is one of the most stressful situations to be managed. Our first study (MAX, accepted for publication BJA) clearly showed that it could not be compared to other urgent and stressful situations (malignant hyperthermia, anaphylactic shock, acute toxicity of local anesthetics, severe and symptomatic hyperkaliemia) whose management was significantly improved with the help of a digital cognitive aid.
  The present study exclusively deals with the management of cardiac arrest (recovery ward, or in the delivery room.) with the second generation of our digital cognitive aid, and explores new insights on how to better manage cardiac arrest with a digital cognitive aid in the hand of the leader.

Detailed description: " Errare humanum est ", to err is human. This Latin saying attributed to Seneca shows that since the dawn of time, human beings are aware that managing complex situations will always be an inexhaustible source of mistakes. This is particularly true in anesthesia and intensive care in which situations are often complex and stressful, thus leading to mistakes or inadequate management. Improvement might arise from the use of cognitive aids.
  In a first study (MAX, accepted for publication BJA) the investigators designed a smartphone application including 5 scenarios of anesthesia and intensive care crises (malignant hyperthermia, anaphylactic shock, acute toxicity of local anesthetics, severe and symptomatic hyperkaliemia, ventricular fibrillation), designed to be used in the hand of the leader managing the crises. Technical and non technical skills were improved in 4 out of 5 scenarios. Cardiac arrest (ventricular fibrillation) clearly happened to be a different situation compared to other crises, and no improvement could be measured with our cognitive aid.
  The present study exclusively deals with the management of cardiac arrest (man in recovery ward, pregnant woman in the delivery room) with the second generation of our digital cognitive aid, and explores new insights on how to better manage cardiac arrest with a digital cognitive aid in the hand of the leader.

Eligibility: Inclusion Criteria:•
  -  Resident Physicians training in Anesthesia/Intensive care (same specialization in France), year 1 to 5 (out of 5)
  -  to be familiar with our simulation centre (at least passed once as a resident)
  Exclusion Criteria:
  -  no experience in simulation training

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

Clinical trial: Monitoring of Postoperative Residual Neuromuscular Blockade in Laparoscopic Surgery

Summary: Compare the reversal effect of neostigmine and sugammadex using quantitative neuromuscular monitoring

Detailed description: At the end of surgery, decide the dosage of reversal referring to quantitative neuromuscular monitoring value (TOF). After the administration of reversal, the anesthesiologist who are going to manage the participant should not check the quantitative neuromuscular monitoring and determine the timing of extubation only with his (or her) judgement. After entering post-anaesthesia care unit (PACU) measure the TOF value and check the incidence of TOF ratio > 0.9 between the neostigmine group and sugammadex group.

Eligibility: Inclusion Criteria:
  -  patients aged over 18 years, planned to undergoing elective laparoscopic surgery under general anesthesia
  Exclusion Criteria:
  -  Obesity BMI over 30 kg/m2
  -  Impairment of renal or/and liver function
  -  Allergy to rocuronium, sugammadex
  -  (Familial) history of malignant hyperthermia
  -  Taking medicines which is affecting neuromuscular function

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

Clinical trial: Sugammadex Versus Neostigmine for Reversal of Rocuronium Neuromuscular

Summary: The aim of this study is to evaluate whether the use of Sugammadex for reversing the neuromuscular blocking effects of rocuronium during neurointerventional procedures can speed recovery of neuromuscular function. Half of participates will receive Neostigmine with glycopyrrolate, while the other half will receive Sugammadex.

Detailed description: Incomplete recovery from neuromuscular blocking agents (NMBAs) residual block after anesthesia and surgery continues to be a common problem in the postanesthesia care (PACU).
  Neostigmine remains the most common acetylcholinesterase inhibitor in the United States. However, administration of the drug significantly impairs genioglossus muscle activity when administered after full recovery from neuromuscular block. Moreover, doses of neostigmine exceeding 0.06 mg/kg increase the risk of respiratory complications independent of NMBAs effects.
  Sugammadex is a modified γ-cyclodextrin that rapidly reverses that effect of the steroidal nondepolarizing NMBAs rocuronium and vecuronium. Sugammadex forms a stable, inactive 1:1 complex with rocuronium or vecuronium, reducing the amount of free NMBA available to bind to nicotinic acetylcholine receptors at the neuromuscular junction. Unlike neostigmine, sugammadex completely reverses even dense neuromuscular blocks.
  Patients having catheter-based neurointerventional procedures are kept deeply anesthetized. It is common to find patients nearly completely paralyzed at the end of neurointerventional procedures and have a markedly delayed emergence while waiting for muscle function to recover sufficiently to safely antagonize with neostigmine.

Eligibility: Inclusion Criteria:
  -  Age ≥ 18 years;
  -  American Society of Anesthesiologists (ASA) physical status 1-3;
  -  Scheduled for catheter-based neurointerventional procedures including coiling and stent insertion;
  -  General anesthesia.
  Exclusion Criteria:
  -  Suspected difficult intubation;
  -  Neuromuscular disorder;
  -  Renal impairment creatinine ≥ 2 mg /dl;
  -  Hepatic dysfunction;
  -  History of malignant hyperthermia;
  -  Allergy to neuromuscular blocking drugs, Sugammadex, neostigmine or glycopyrrolate;
  -  Perioperative respiratory infections and/or pneumonia;
  -  Intubated or unresponsive;
  -  Pregnancy or breastfeeding.

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

Clinical trial: The Effect of Propofol or Sevoflurane on Renal Function

Summary: This study investigates the role of the anesthetic agents propofol and sevoflurane on renal function in otherwise healthy patients undergoing basic back surgery.

Detailed description: Water-sodium homeostasis is central for anyone undergoing surgery, and can therefore affect surgical outcome, level of postoperative care and the length of hospital stay. Too much or too little fluid during surgery can affect the patients negatively. The kidneys play an imperative role in the regulation of water and sodium homeostasis, however there are lack of knowledge in how the anesthesia per se affects renal function. Previous studies have shown that volatile anesthetic agents such as sevoflurane can cause fluid retention. Why this happens is not completely known.
  We are now investigating the different affects of sevoflurane and propofol anesthesia on renal function in patients undergoing basic back surgery to elucidate if there is a difference in the risk of developing acute kidney injury.

Eligibility: Inclusion Criteria:
  -  Scheduled back surgery
  Exclusion Criteria:
  -  American Association of Anesthesiology class 1-3
  -  American Heart Association class >3
  -  BMI >37
  -  Insulin treated diabetes
  -  Pregnancy or breast feeding
  -  Sensistivity/allergy against anesthetic agents
  -  Inadequate understanding about the study
  -  Depressed kidney function and/or AKI
  -  Depressed liver function
  -  Genetic malignant hyperthermia

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

Clinical trial: Investigation of Microbiome-based Prognostical Biomarkers in Patients With Morbid Obesity and Bariatric Surgery

Summary: Morbid obesity leads to non-alcoholic fatty liver disease (NAFLD), and not all NAFLD cases benefit from weight loss e.g. after bariatric surgery. Our aim is to find out, which intrahepatic factors and / or biomarkers might be beneficial or can be identified as prognostic factors for remission of NAFLD after weight loss. As other factors such as the microbiome or muscle and fatty tissue also influence the development of obesity and liver diseases, it is planned to examine these parameters before and after bariatric surgery as well.
  Tissue biopsies will therefore be taken during the surgery, and blood as well as stool samples will be collected and compared for suitable biomarkers before and after the intervention.


Eligibility: Inclusion Criteria:
  -  BMI above 40 kg/sqm or
  -  BMI above 35 kg/sqm and comorbidities related to morbid obesity (e.g. type 2 diabetes, hypertension, coronary heart disease, dyslipoproteinemia, sleep apnea, and others
  Exclusion Criteria:
  -  BMI below 35 kg/sqm
  -  no informed consent
  -  patient not suitable for bariatric surgery (severe psychological disorder, pregnancy, drug abuse, active malignant or other consuming disease

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

Clinical trial: Predictor of Clinical Response to Acthar in Myositis

Summary: Comparing the clinical effects of Acthar Gel before and after treatment and compare it to patients with inactive disease.

Detailed description: To compare the clinical impact of Acthar Gel at the cellular and molecular level before and after treatment and compare it to patients with inactive disease. The cohort of active myositis subjects are not actually enrolled in this study, but rather the data for those with active myositis will be obtained from a previously completed trial entitled "Efficacy and safety of Adenocorticotropic Hormone Gel in Refractory dermatomyositis and polymyositis".

Eligibility: Inclusion Criteria:
  -  Healthy Controls:
  -  An individual will be eligible to be a control subject if his/her age is 18 years or greater.
  -  Myositis Remission Control Group
  -  Definite or probable PM or DM by Bohan and Peter criteria.
  -  PM patients must either possess a myositis-associated autoantibody or undergo adjudication for confirmation of the PM diagnosis by consensus of two experts (Aggarwal or Oddis) to ensure non-PM patients are not enrolled. This step is necessary since there are well known mimics of PM.
  -  Age is greater than or equal to 18 years
  -  Remission of myositis as defined by a myositis disease global activity score <1 on the MDAAT and no new immunosuppressive or glucocorticoid therapy or dose change within one year.
  Exclusion Criteria:
  -  Healthy Controls:
  -  An existing diagnosis of a CTD
  -  A potential immune compromised state, for example, treatment with immunosuppressant or anti-rejection medication or a diagnosis of an immune deficiency disease
  -  Myositis Remission Control Group:
  -  Juvenile DM or PM, myositis in overlap with another connective tissue disease, cancer associated myositis, inclusion body myositis, or any other non immune mediated myopathy.
  -  Severe muscle damage defined as a baseline global muscle damage score on the MDI (Myositis Damage Index) of greater than or equal to five centimeters on a ten centimeter VAS.
  -  Patients with malignancy within three years of screening (except basal cell cancer or squamous cell cancer of skin.
  -  Uncontrolled diabetes, hepatic or renal disease.

Relevance to patient case: not relevant