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

Clinical trial: Treatment of TK2 Deficiency With Thymidine and Deoxycytidine

Summary: Patients with confirmed mitochondrial DNA depletion syndrome 2 (thymidine kinase 2 [TK2] deficiency) have reduced levels of nucleotides (deoxythymidine monophosphate and deoxycytidine monophosphate) for mitochondrial DNA synthesis. This results in mitochondrial DNA depletion syndrome (i.e less number of functional mitochondrial DNA). Patients with confirmed TK2 deficiency will be treated with open label deoxythymidine (dThd) and deoxycytidine (dCyt), which are nucleotide precursors, with the expectation that the cells could make additional mitochondrial DNA. This in turn may help reduce the clinical symptoms.

Detailed description: Mitochondrial are responsible for the production of cellular energy. Mitochondria contain DNA which is the encoding system ( "recipe") for making the proteins that allow the mitochondria to function. Reduced amount of mitochondrial DNA, caused by genetic mutations in certain genes, Mitochondrial DNA Depletion Syndrome. This can result in symptoms; such as fatigue, weakness, and deficiencies in various body systems. TK2 deficiency is considered a mitochondrial depletion syndrome. Patients with TK2 deficiency have weakness and walking difficulty. They also have depleted levels of chemicals (phosphorylated deoxythymidine and deoxycytidine) used to make mitochondrial DNA. Based on previous studies with a similar compound, patients reported more energy and better motor skills.
  Eligible patients include those with genetic mutations in the TK2 gene who are willing to attend several outpatient visits, and have motor skills testing, neurological exam by doctor, and blood samples.

Eligibility: Inclusion Criteria:
  -  Genetically confirmed diagnosis of TK2 deficiency
  -  Deemed by principle investigator to be symptomatic with TK2 deficiency
  -  Single gene disease; absence of polygenic disease
  -  Hematocrit within normal range for age group
  -  Patient or patient's guardian able to consent and comply with protocol requirements
  -  Presence of caregiver to ensure study compliance (if needed)
  -  Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator)
  -  Abstention from use of other investigational medications or other medications according to the study investigator
  Exclusion Criteria:
  -  Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT)
  -  Hepatic insufficiency with liver function tests (LFTs) greater than two times normal
  -  Renal insufficiency requiring dialysis
  -  Any other concurrent inborn errors of metabolism
  -  Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis

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

Clinical trial: The Study of BGB-283 in Chinese Subjects With Local Advanced or Metastatic Malignant Solid Tumor

Summary: This study will evaluate the safety, tolerability, pharmacokinetics, food effect, and preliminary antitumor activities of BGB-283 in Chinese subjects with local advanced or metastatic malignant solid tumor.


Eligibility: Inclusion Criteria:
  1. Provided written informed consent prior to enrollment.
  2. Male or female and between 18 and 75 years old.
  3. A life expectancy of more than 12 weeks.
  4. Stage I and III: Histologically or cytologically confirmed advanced or metastatic solid tumor for which no effective standard therapy is available. We simultaneously require patients with one of B-RAF, N-RAS, or K-RAS mutation positive solid tumor.
  5. In Stage II: we require advanced or metastatic melanoma with the B-RAF mutation.
  6. Eastern Cooperative Oncology Group (ECOG) performance status of ≤ 1.
  7. Able to swallow and retain oral medication.
  8. Adequate bone marrow, liver, and renal function:
  -  Hemoglobin > 90 g/L
  -  Absolute neutrophil count ≥ 1.5x10^9/L
  -  Platelets ≥ 100 x10^9/L
  -  Total bilirubin ≤1.5 times the upper limit of normal (ULN)
  -  Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) ≤ 2.5 x ULN (≤ 5 x ULN for subjects with known liver metastasis)
  -  Creatinine clearance ≥ 50 mL/min (calculated by the Cockcroft Gault formula).
  Exclusion Criteria:
  1. Female subjects who are pregnant or lactating.
  2. Prior chemotherapy, radiotherapy, immunotherapy or any investigational therapies used to control cancer must have been completed at least 4 weeks or at least 5 half-lives (whichever is shorter before study drug administration, but at least 21 days)
  3. Any major surgery within 28 days prior to enrollment.
  4. Any radiotherapy for metastatic foci within 14 days prior to enrollment,
  5. Unresolved toxicity > Grade 1 (according to NCI-CTCAE, Version 4.03) from previous anti cancer therapy.
  6. History or presence of gastrointestinal disease or other condition known to interfere with the absorption, distribution, metabolism, or excretion of drugs.
  7. Any clinical significant active infection that need systematic treatment, including HIV positive subjects, or known Hepatitis B or C.

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

Clinical trial: Impact of Sugammadex vs. Neostigmine Reversal on Post-Operative Recovery and Complications

Summary: Sugammadex or neostigmine are given at the end of the surgery to reverse neuro muscular blocking drugs. This study will evaluate whether reversal of NMBD with sugammadex is associated with faster recovery than neostigmine resulting in faster discharge from the operating room (OR) in obese patients with OSA undergoing bariatric surgery. Half of the patients in the study will receive sugammadex and the other half of the patients will receive neostigmine.

Detailed description: Sugammadex and neostigmine are Neuromuscular Blocking Drugs(NMBD) reversal agents. Neostigmine - an anticholinesterase is given to reverse NMBD; however reversal of NMBD with neostigmine may be associated with residual neuromuscular blockade in up to 64% patients postoperatively in the post anesthesia care unit. Even mild degrees of residual neuromuscular blockade can have serious clinical consequences in the postoperative period.The severity of OSA often worsens after surgery and patients with OSA are at increased risk for early respiratory complications after extubation and in the PACU. Morbid obesity is associated with critical respiratory complications in patients with OSA.
  Sugammadex is a newer NMBD reversal agent that rapidly and completely reverses rocuronium. It is a modified gamma cyclodextrin that forms a complex with the neuromuscular blocking agent rocuronium. It reduces the amount of neuromuscular blocking agent available to bind to nicotinic cholinergic receptors in the neuromuscular junction. It has been shown to more rapidly reverse residual neuromuscular blockade than neostigmine in obese patients without obstructive sleep apnea (OSA).
  This study will evaluate whether reversal of NMBD with sugammadex is associated with faster recovery than neostigmine resulting in faster discharge from the operating room (OR) in obese patients with OSA undergoing bariatric surgery. Half of the patients in the study will receive sugammadex and other half of the patients will receive neostigmine

Eligibility: Inclusion Criteria:
  -  Age ≥ 18 years old
  -  Diagnosed Obstructive Sleep Apnea patients by polysomnography
  -  Scheduled elective bariatric surgery
  Exclusion Criteria:
  -  Age<18 years old
  -  Allergy to rocuronium
  -  Allergy to sugammadex
  -  Allergy to neostigmine
  -  Malignant hyperthermia
  -  Hepatic insufficiency
  -  Renal insufficiency
  -  Neuromuscular Disease
  -  Pregnancy

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

Clinical trial: CART19 Cells Treatment of MRD of B Cell Malignancies and Then Auto-HSCT

Summary: The clinical study of CART19 Cells treatment for MRD of B Cell Malignancies and then auto-HSCT

Detailed description: The clinical study of the chimeric antigen receptor T cells (CART Cells) treatment for minimal residual disease(MRD) of B Cell Malignancies and then autologous hematopoietic stem cell transplantation(auto-HSCT).

Eligibility: Inclusion Criteria:
  1. Patients with CD19+, B cell Acute Lymphocytic Leukemia(B-ALL), B cell Chronic Lymphocytic Leukemia(B-CLL), B cell Lymphoma，who have 0.01%≤MRD<10% during upfront treatment 2. Patients must be within 12 months of initial B-ALL, B-CLL, B cell Lymphoma diagnosis 3. Patients must have a measurable or evaluable disease at the time of enrollment, which may include any evidence of disease including minimal residual disease detected by flow cytometry, cytogenetics, or polymerase chain reaction (PCR) analysis 4. Age 14 years to 75 years 5. Adequate organ function defined as:
  1. AST and ALT ≤ 3 times upper limit of normal range for age,
  2. Serum creatinine ≤ 1.6 mg/dl,
  3. Direct bilirubin ≤2.0 mg/dl,
  4. Adequate pulmonary function defined as ≤ grade 2 dyspnea and ≤ grade 2 hypoxia,
  5. Cardiac Left Ventricle Ejection Fraction (LVEF) ≥ 40% confirmed by ECHO/MUGA. 6. Patients with CNS disease will be eligible if CNS disease is responsive to therapy 7. Expression of CD19 on leukemic blasts demonstrated by flow cytometry or immunohistochemistry of bone marrow or peripheral blood 8. Adequate performance status defined as ECOG Performance Status 0 or 1 9. Provides written informed consent 10. Subjects of reproductive potential must agree to use acceptable birth control methods, as described in protocol
  Exclusion Criteria:
  1. Active, uncontrolled infection
  2. Active hepatitis B or hepatitis C
  3. HIV Infection
  4. Class III/IV cardiovascular disability according to the New York Heart Association Classification
  5. Subjects with clinically apparent arrhythmia or arrhythmias who are not stable on medical management within two weeks of enrollment
  6. Pregnant or nursing (lactating) women Patients with a known history or prior diagnosis of optic neuritis or other
  7. immunologic or inflammatory disease affecting the central nervous system, and unrelated to leukemia or previous leukemia treatment.

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

Clinical trial: CT and Clinical Features of Internal Hernia

Summary: Researchers retrospectively reviewed patients with internal hernia that confirmed by surgical exploration between Feb. 2012 and Feb. 2018. and analysis the Medical records and MDCT images to investigate the clinical and radiological features of internal hernia.

Detailed description: 51 Patients with definite diagnosis of IH during surgical exploration from Feb. 2012 to Feb. 2018 in our hospital were included in this research. Medical records including MDCT images and intra-operative findings were collected retrospectively. The CT features of different subgroups were also evaluated.

Eligibility: Inclusion Criteria:
  -  IH confirmed by surgical exploration
  Exclusion Criteria:
  -  diaphragmatic hernia and traumatic IH

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

Clinical trial: [68Ga]-NeoBOMB1 Imaging in Patients With Malignancies Known to Overexpress Gastrin Releasing Peptide Receptor (GRPR)

Summary: To characterize preliminary targeting properties of [68Ga]-NeoBOMB1 in patients with malignancies known to overexpress GRPR.


Eligibility: Inclusion Criteria:
  -  Subjects must be at least 18 years of age
  -  Subjects must have signed and dated an informed consent prior to any study-specific procedures
  -  Subjects with histologically-confirmed tumor for whom a recent biopsy (not older than 6-months old) has been performed.
  -  Dosimetry group: luminal breast cancer, adenocarcinoma of the prostate
  -  Non-dosimetry group: luminal breast cancer, adenocarcinoma of the prostate, small cell lung cancer, non-small cell lung cancer, colorectal carcinoma
  -  At least one malignant lesion detected via functional or morphological imaging (PET combined to appropriate tracer according to tumor type (PET combined to appropriate tracer according to tumor type, CT, MRI) within 3 months prior to [68Ga]-NeoBOMB1 administration
  -  The Eastern Cooperative Oncology (ECOG) performance status 0-2.
  -  Subjects must agree to use highly effective methods of contraception (female partners of male participants should use highly effective methods of contraception) during the trial.
  Exclusion Criteria:
  -  renal insufficiency or an eGFR <50 ml/min/1.73m2
  -  hematological toxicity grade > 2 (Toxicity Grading Scale in vaccine clinical trials)
  -  participation in any other investigational trial within 30 days of study entry
  -  subjects with positive pregnancy test (urine dipstick), and/or currently breast-feeding
  -  concurrent severe illness or clinically relevant trauma within 2 weeks before the administration of the investigational product that might preclude study completion or interfere with study results
  -  concurrent bladder outflow obstruction or unmanageable urinary incontinence
  -  known or expected hypersensitivity to [68Ga]-NeoBOMB1 or any excipient present in [68Ga]-NeoBOMB1
  -  any condition that precludes raised arms position
  -  prior administration of a radiopharmaceutical within a period corresponding to 8 half-lives of the radionuclide
  -  history of somatic or psychiatric disease/condition that may interfere with the objectives and assessments of the study

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

Clinical trial: The Use of Dantrolene to Improve Analgesia in Posterior Lumbar Surgery

Summary: The purpose of this study is to determine whether administration of a non-centrally acting muscle relaxants will improve the Overall Benefit of Analgesia Score (OBAS), and Richmond Agitation Sedation Scale (RASS) scores in patients undergoing lumbar fusion.


Eligibility: Inclusion Criteria:
  -  18 - 65 years of age (inclusive)
  -  Presenting to study hospital for lumbar fusion procedure (instrumented fusion of the lumbar spine < 4 levels) under general anesthesia
  -  American Society of Anesthesiologists (ASA) Category 1, 2 or 3
  Exclusion Criteria:
  -  Known allergy to Dantrolene, morphine or other opioids, benzodiazepines
  -  Oxygen saturation not within 94-100%
  -  Patient being treated with verapamil
  -  Current or past medical history of any of the following:
  -  Hepatic impairment (including history of transplant)
  -  Renal impairment or chronic renal disease (including history of transplant)
  -  Chronic alcohol abuse
  -  Respiratory disease (i.e. hypoxia, hypercapnia, COPD)
  -  History of aspiration
  -  Patients with any history of neuromuscular dysfunction
  -  History of obstructive sleep apnea
  -  Weight > 140 kg
  -  Currently pregnant
  -  Actively breastfeeding
  -  Inability to provide written informed consent

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

Clinical trial: Short Course Radiation Therapy in Palliative Treatment of Abdominal Cancer

Summary: Aim of the study is to assess efficacy of a short course radiation treatment in patients with symptomatic abdominal malignant lesions

Detailed description: Standard treatment for abdomen lesions (3000 cGy in 10 daily fractions of 300 cGy each) is compared with experimental treatment (1800 cGy in 4 fractions of 450 cGy twice a day) to demonstrate non-inferiority of this scheme

Eligibility: Inclusion Criteria:
  -  symptomatic abdomen malignant lesions (primary solid tumor or metastases from solid tumor)
  -  age>18 years
  -  ECOG performance status 0-3
  -  no changes in supportive care in the week before radiotherapy
  Exclusion Criteria:
  -  pregnancy
  -  previous irradiation of the same region

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

Clinical trial: The Use of Sugammadex in the Critically Ill

Summary: Moderate and Deep neuromuscular blockade (rocuronium administered to a train of four count 0 and post-tetanic count of 1-2) in critically ill patients needing intubation or procedures can be reversed immediately and effectively by sugammadex avoiding unnecessary paralysis in an already weakened population

Detailed description: The Critically ill is a special population needing immediate and aggressive treatments and interventions. Neuromuscular blockade is frequently used to secure an airway, optimize ventilation/oxygenation in ARDS, aid in maintaining hypothermia in patients post-cardiac arrest. Muscle relaxants can also contribute to neuromuscular weakness in the critically ill which can be a devastating condition. Appropriate depth of neuromuscular blockade is important but unnecessary paralysis need to be avoided. Rocuronium is one of the most popular neuromuscular blockade agents used in the critically ill (1). Sugammadex is a modified γ-cyclodextrin that reverses the effect of the steroidal nondepolarizing neuromuscular blocking agents rocuronium and vecuronium (2). Sugammadex results in rapid, predictable recovery from moderate and deep neuromuscular blockade. Sugammadex has been mostly studied and used in the surgical population but its use outside the operating room is still very relevant. The investigators set up to evaluate the potential benefit that may result from the reversal of NMB with sugammadex compared to neostigmine.
  Objectives
  In critically ill patients undergoing intubation receiving appropriate depth of NMB (moderate and deep blockade) the investigators will assess:
  Primary objective:
  1. To determine if choice of reversal agent affects time from intubation to return of a train of four (TOF) count of 1, and, separately, to return of a TOF ratio >0.9
  Secondary objectives:
  1. To document the ability of 1.0 mg/kg rocuronium (maximum 100 mg) to achieve satisfactory intubation conditions in the ICU, based on measurement of the number of intubation attempts and intubation grades in the entire cohort
  2. To document General adverse effects: Hemodynamic instability, need for vasopressors etc

Eligibility: Inclusion Criteria:
  -  Adult patients requiring intubation in the intensive care unit
  Exclusion Criteria:
  -  Patients younger than 18 yr, to have known or suspected neuromuscular disease, allergies to medications to be used during intubation, a (family) history of malignant hyperthermia or severe renal insufficiency (glomerular filtration rate <30 ml/h) will not be eligible.

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

Clinical trial: The Comparison of Warming Techniques in Patients Undergoing Open Abdominal Surgery in Litotomy Position

Summary: The patients scheduled to undergo major abdominal surgery in litotomy position will be randomized into two groups in order to compare the effects of two warming techniques during the intraoperative period.

Detailed description: The patients will be randomized into two groups. All patients will receive prewarming with forced-air warming device for 30 minutes. All patients will receive warmed fluids during intraoperative period. One group will receive warming with only forced-air warming device and the other group will receive warming with both forced-air warming device and water mattress. Timpanic, esophageal and peripheral temperature monitoring will be performed.

Eligibility: Inclusion Criteria:
  -  Major abdominal surgery in litotomy position
  -  ASA I-II
  -  Anticipated operation time over 1 hour
  Exclusion Criteria:
  -  Sepsis
  -  Hypothermia
  -  Hyperthermia
  -  Malignant Hyperthermia
  -  Tyroid dysfunction

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

Clinical trial: Pilot Study of an Intervention Involving Cognitive Training and tDCS in Morbidly Obese Subjects

Summary: The study aims to: 1) investigate the effects of cognitive training (CT) and combined CT and transcranial direct current stimulation (tDCS) on food intake and 2) to further understand its neuropsychological and neurophysiological basis (i.e. EEG) as well as its impact in endocannabinoids (EC) in a sample of morbidly obese patients seeking for a gastric bypass surgery

Detailed description: The study will explore the impact of a 4-day intervention with either CT (Active control condition) or CT+tDCS (Active condition) stimulation on food intake in a sample of morbidly obese patients, as measured by dietary assessments the week before, during and the week after the intervention. Additionally, to further understand the neuropsychological and neurophysiological basis of its impact, measures of executive function and attention performance and EEG recordings, respectively, will be collected. Furthermore, we will explore the effect of the intervention on endocannabinoids previously related to eating behaviour.
  The Active Control condition will receive sham stimulation together with CT, through a computerized cognitive training platform (Guttmann NeuropersonalTrainer), including different tasks with designed to train executive functions and attention. Each session will last approximately 30-40 min.
  The Active condition will receive tDCS stimulation (20 min, multichannel with an excitatory target over the r-dlPFC) together with CT (same as for the Active Control condition).
  Participants will undergo a basal (the week before intervention) and a post treatment assessments (the day after finishing the intervention) that will include medical history, blood testing, anthropometric measures, a cognitive assessment battery and a 4-day dietary assessment.

Eligibility: Inclusion Criteria:
  -  Subjects of both gender, aged between 18 and 60 years-old
  -  Having a BMI > 40 kg/m2 or having a BMI>35 and suffering from diabetes mellitus, HBP or LDP.
  -  Obesity conventional treatment failure
  -  Wish of bariatric surgery
  -  Accepting the study and signing the Informed Consent
  Exclusion Criteria:
  -  Do not meet inclusion criteria
  -  Being left-handed
  -  Using a pacemaker or deep cerebral stimulation device
  -  Having a psychiatric disease or serious disease
  -  Neurologic condition or learning issue or mental backwardness that could affect cognitive function
  -  Use of psycho-stimulating medicines and/or drugs, abuse or dependance to a psychoactive substance (or during the last 6 months)
  -  Dependance to alcohol or/and drugs (excepted from nicotina)
  -  In treatment with benzodiazepines, antipsychotics, tricyclic antidepressants or topiramate, started in the last month
  -  History of psychiatric disorders treated with lithio carbonate.
  -  Cutaneous lesion on the area of using of electrodes
  -  Contact allergy to material used in the used devices.

Relevance to patient case: not relevant