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

Clinical trial: A Bridging Trial Comparing Sugammadex (Org 25969) at 1-2 Post-Tetanic Count (PTC) in Japanese Participants. Part A (P05957)

Summary: The objective of the trial was to establish the dose-response relation of sugammadex (Org 25969) given as a reversal agent of rocuronium or vecuronium at 1-2 PTC during sevoflurane anesthesia for Japanese participants.


Eligibility: Inclusion Criteria:
  -  Participants of American Society of Anesthesiologists (ASA) class 1 - 3;
  -  Participants at least 20 years but under 65 years of age;
  -  Japanese participants;
  -  Participants scheduled for elective surgery in supine position and under sevoflurane anesthesia, in need of administration of a neuromuscular blocking agent (NMBA), with an anticipated duration of about 1.5-3 hours;
  -  Participants who had given written informed consent. This was obtained before the investigator or the sub-investigator performed any procedures or assessments for the screening, and after the participant was informed about the nature and purpose of the study, the study procedures, and the risks and restrictions of the study.
  Exclusion Criteria:
  -  Participants in whom a difficult intubation because of anatomical malformations was expected;
  -  Participants known or suspected to have neuromuscular disorders impairing neuromuscular blockade (NMB) and/or significant renal dysfunction (for example a creatinine level > 1.6 mg/dl) and/or severe hepatic dysfunction.
  -  Participants known or suspected to have a (family) history of malignant hyperthermia;
  -  Participants known or suspected to have an allergy to narcotics, muscle relaxants or other medication used during general anesthesia;
  -  Participants receiving medication expected to interfere with the rocuronium or vecuronium given in this trial, based on the dose and time of administration;
  -  Female participants who were pregnant;
  -  Female participants of childbearing potential not using birth control or using only oral contraception as birth control;
  -  Participants who were breast-feeding;
  -  Participants who had already participated in study CT 19.4.209A, or in another trial with sugammadex;
  -  Participants who had participated in another clinical trial within 6 months of entering into study CT 19.4.209A.

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

Clinical trial: Alternative Surgical Policy for Central Liver Tumors

Summary: Major hepatectomies have not negligible morbidity and mortality. However, when tumors invade middle hepatic vein (MHV) at caval confluence major surgery is usually recommended. Ultrasound-guided hepatectomy might allow conservative approaches. We prospectively check its feasibility in a series of patients carriers of tumors invading the MHV at the caval confluence.

Detailed description: Major hepatectomies have not negligible morbidity and mortality. However, when tumors invade middle hepatic vein (MHV) at caval confluence trisectionectomy (TS) is generally performed, and central hepatectomy or mesohepatectomy (MH) (Segments 4, 5 and 8), is considered by some authors to be the conservative alternative to the previously cited approach. Between these two surgical interventions there is not, up to now, any evidence that one of them should be clearly preferred; anyway both are mojor resections. We previously reported that a surgical approach based on ultrasound-guided hepatectomy might minimize the need for major resection, whose rates of morbidity and mortality are not negligible. This policy could be useful also for disclosing new, more conservative, and better tolerated approaches for tumors invading the MHV at caval confluence in alternative to MH and TS. This study analyses the feasibility, safety and effectiveness of ultrasound-guided resections applied to these patients enrolled prospectively from a cohort of consecutive patients who undergo hepatectomy for tumors.

Eligibility: Inclusion Criteria:
  -  Patients carriers of HCC or colorectal cancer liver metastases (CLM) who have macroscopic signs of vascular invasion (preoperative imaging and/IOUS) of the MHV close to the hepato-caval confluence (within 4 cm) demanding for that MHV resection.
  Minimum follow-up for patients' inclusion was established at 6-months from surgery.
  Exclusion Criteria:
  -  Patients carriers of tumors occupying entirely the right paramedian section and the segment 4, for whom at least a MH would have been compulsorily carried out.

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

Clinical trial: PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood

Summary: Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome

Detailed description: Background: Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemo-reflexes that results in hypoventilation during sleep. Recently, a heterozygous PHOX2B gene mutation was identified in CCHS. This report was made to increase physicians' awareness of this rare disease.
  Methods: A Chinese family of CCHS with presentations from newborn to adulthood and genetic analysis confirming the PHOX2B mutation was analyzed. After identifying central hypoventilation in an adult male (index case), clinical evaluation was performed on the complete family, which consisted of the parents, five siblings, and five offsprings. In addition, pulmonary function test, overnight polysomnography, arterial blood gas, and hypercapnia ventilatory response, and genetic screening for PHOX2B gene mutations were performed on living family members.

Eligibility: Inclusion Criteria:
  -  Members of familiar congenital central hypoventilation syndrome
  Exclusion Criteria:
  -  Refuse to participate study

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

Clinical trial: Comparison Study of Intraoperative Patient Warming Systems

Summary: Medications used to put people to sleep during surgical procedures also cause changes in the body's ability to control its temperature. These changes can make a person's temperature drop below normal. To minimize this drop in body temperature, different types of body warming products are used during surgery. This study is designed to compare the the temperatures of people under general anesthesia after 60 minutes of warming with each product. The study hypothesis is that the people warmed with the Dynatherm Medical vitalHEAT vH2 System will decrease less in the first 60 minutes of warming time than people warmed with the Arizant Bair Hugger System.


Eligibility: Inclusion Criteria:
  -  Pts undergoing orthopedic surgical procedure with expected duration 2-3 hrs
  -  General anesthesia required
  -  ASA physical status I-III
  Exclusion Criteria:
  -  General anesthesia plus epidural anesthesia required
  -  Skin abrasions/trauma to extremity selected as application site
  -  History of peripheral vascular disease
  -  History of malignant hyperthermia
  -  Unwilling/unable to give consent

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

Clinical trial: Safety and Pharmacologic Study of VTX-2337 in Patients With Advanced Cancer

Summary: This is a multi-center, Phase I study of a new investigational drug, VTX-2337, that may stimulate the immune system to help fight cancer. The purpose of the study is to assess the safety of the investigational drug and to identify the highest dose that is well-tolerated. The pharmacology of VTX-2337 will also be evaluated.


Eligibility: Other specific eligibility criteria may apply. Examination by the investigator is necessary to fully determine eligibility.
  Inclusion Criteria:
  -  Ability and willingness to provide written informed consent
  -  Histologically or cytologically confirmed solid tumors or lymphoma
  -  Locally advanced or metastatic disease
  -  Life expectancy of at least 16 weeks
  -  ECOG performance status of 0 or 1
  -  Acceptable physical exam and laboratory tests at study entry
  -  Willingness to use medically acceptable contraception
  -  A negative serum pregnancy test for women with reproductive potential
  Exclusion Criteria:
  -  Anticancer therapy within 2 weeks
  -  Treatment with an investigational agent within 4 weeks
  -  Systemic corticosteroids within 2 weeks or a requirement for systemic immunosuppressive therapy
  -  Known brain metastases unless stable for at least 28 days
  -  Active autoimmune disease
  -  Insulin-dependent diabetes mellitus
  -  Clinically significant cardiac disease within 6 months
  -  Significant infection or fever within 1 week
  -  Pregnant or breast-feeding females
  -  Other conditions or circumstances that could interfere with the study

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

Clinical trial: Comparison of 4.0 mg/kg Sugammadex at 1-2 Post Tetanic Counts (PTC) in Renal or Control Patients (19.4.328)(P05769)

Summary: The current trial was designed to investigate the effects of 4.0 mg.kg-1 of sugammadex on efficacy, safety and pharmacokinetics in subjects with severe renal impairment in comparison to subjects with normal renal function.

Detailed description: The results of previous trials showed that the safety profile of sugammadex
  observed in subjects with impaired renal function are not appreciably different from subjects with normal renal function. Reoccurrence of neuromuscular blockade was not observed, and sugammadex was safe and generally well tolerated in subjects with severe renal impairment. In a previous trial, subjects (n=15) with severe renal impairment received a dose of 2.0 mg.kg-1 of sugammadex. The effects of the other proposed recommended dose for routine reversal, 4.0 mg.kg-1, on efficacy, safety and pharmacokinetics had not been studied thus far in subjects with severe renal impairment. The objectives of this trial were to assess equivalence with respect to the efficacy of sugammadex in subjects with normal renal function or severe renal impairment, to evaluate the safety of sugammadex in these subject groups and to compare the pharmacokinetic profiles.

Eligibility: Inclusion Criteria:
  -  At least 18 years of age
  -  ASA class 1-3
  -  Creatinine clearance (CLcr) < 30 mL/min and no anticipated clinical
  indication for high flux hemodialysis during first 24 hours after
  sugammadex administration (for renally impaired group) or CLcr >= 80
  mL/min (for control group)
  -Scheduled for a surgical procedure under general anesthesia with propofol
  requiring neuromuscular relaxation with the use of rocuronium
  -  Scheduled for a surgical procedure in supine position
  -  Written informed consent
  Exclusion Criteria:
  - Subjects known or suspected to have neuromuscular disorders impairing
  neuromuscular blockade and/or significant hepatic dysfunction
  -  Subjects scheduled for renal transplant surgery
  -  Subjects known or suspected to have a (family) history of malignant
  hyperthermia
  -Subjects known or suspected to have an allergy to narcotics, muscle
  relaxants or other medication used during general anesthesia
  -  Subjects receiving fusidic acid, toremifene and/or flucloxacillin
  -  Subjects who have already participated in a sugammadex trial
  -  Subjects who have participated in another clinical trial, not pre-approved
  by the sponsor, within 30 days of entering into 19.4.328 (P05769)
  -  Female subjects who are pregnant
  -  Female subjects who are breast-feeding

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

Clinical trial: Comparison of Intraoperative Warming Devices

Summary: The sublingual (under the tongue) core temperature within 10 minutes of arrival in the post anesthesia care unit (PACU) for patients warmed with the Dynatherm vitalHeat2 (VH2) System under general anesthesia for total knee arthroplasty will be equivalent to that of patients warmed with the Arizant Bair Hugger System.


Eligibility: Inclusion Criteria:
  -  Initial total knee arthroplasty.
  -  Expected duration of surgery at least 2 hours.
  -  General anesthesia.
  -  American Society of Anesthesiologists (ASA) classification I-III.
  -  Age >= 18 years.
  Exclusion Criteria:
  -  Skin abrasion at the device application site.
  -  History of peripheral vascular disease.
  -  History of allergic skin conditions of the upper extremities.
  -  History of malignant hyperthermia.

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

Clinical trial: A Study To Test The Impact Of PF- 00299804 On How The Body Handles Dextromethorphan In Cancer Patients

Summary: Research in test tubes suggests that may affect cytochrome P450 2D6 (CYP2D6), an important enzyme that is responsible for eliminating many drugs that cancer patients need to take, including dextromethorphan. The purpose of this study is to test the impact of PF-00299804 on the activity of CYP2D6, and how the human body handles dextromethorphan.

Detailed description: To assess the effect of repeated dosing with 45 mg QD PF-00299804 on the pharmacokinetics of dextromethorphan, a CYP2D6 probe, in cancer patients with advanced malignant solid tumors.

Eligibility: Inclusion Criteria:
  -  Patients with a histologically or cytologically confirmed advanced malignant solid tumor for which there is no currently approved treatment or which is unresponsive to currently approved therapies;
  -  Eastern Cooperative Oncology Group (ECOG) performance status 0-1. Patients with performance status 2 could be eligible upon agreement between sponsors and investigators;
  -  Adequate bone marrow, renal, liver and cardiac functions;
  Exclusion Criteria:
  -  History of Interstitial Lung Disease (ILD).
  -  Drugs with known CYP2D6 inhibitory effects
  -  Drugs that are highly dependent on CYP2D6 for metabolism.
  -  Women who are pregnant or breastfeeding.

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

Clinical trial: Mitomycin C With Hyperthermia and Intravesical Mitomycin C to Treat Recurrent Bladder Cancer

Summary: Hypothesis: In selected patients external hyperthermia will be used in combination with intravesical Mitomycin-C (MMC) to treat recurrent transitional cell carcinoma (TCC) of the bladder after local resection and standard adjuvant therapy and thus prevent or delay recurrence and the need for radical cystectomy.

Detailed description: It is well established that tumor cells are sensitive to heat and when combined with a chemotherapeutic agent, drug uptake and intracellular distribution of drug within malignant cells is improved due to increased cellular permeability. Further, hyperthermia inhibits deoxyribonucleic acid (DNA) repair as a result of increased reaction between DNA and chemotherapy. By heating bladder tissue and accelerating the necessary series of reactions to link agents such as mitomycin C to cell DNA, this effect may be optimized. Depending on the extent of resection (and location, size, and depth of invasion of remaining tumor) after transurethral resection of the bladder tumor(TURBT), recommended adjuvant therapy consists of intravesical chemotherapy. MMC has been studied at doses as high as 80 mg without producing significant or irreversible side effects. The most commonly used dose of mitomycin is 40 mg.2
  This pilot study proposes to use Mitomycin C at a dose of 40 mg in conjunction with deep hyperthermia to enhance the effect intravesical chemotherapy as second-line treatment of recurrent TCC (Stage Ta, T1, or Tis) of the bladder after surgical resection and standard adjuvant therapy.

Eligibility: Inclusion Criteria:
  -  Non-muscle invasive transitional cell carcinoma (TCC) of the bladder (Ta, T1, Tis) recurrent after initial surgery and at least one round of adjuvant treatment (i.e. 6 weeks of intravesical biological therapy with Bacillus Calmette Guerin (BCG) solution); or
  -  An inability to tolerate BCG
  -  Age > 18
  -  Eastern Cooperative Oncology Group(ECOG) Performance Status 0-2
  -  Laboratory tests performed within 14 days of study enrollment:
  -  Leukocytes ≥ 3,200, Absolute Neutrophil count ≥ 1,500, Platelets ≥ 100,000
  -  Hemoglobin ≥ 9.0 gm/dL, Total bilirubin ≤ institution upper limit of normal *(ULN), Asparate Aminotransferase(AST) and Alanine Aminotransferase(ALT) ≤ 2.5 times ULN, Alkaline phosphatase ≤ 2.5 times ULN
  -  Creatinine ≤ 1.5 times ULN
  -  Women of child bearing potential must have a negative pregnancy test
  -  If post-menopausal - Amenorrhea for ≥ 12 months
  Exclusion Criteria:
  -  Pregnancy or breastfeeding
  -  Muscle invasive disease (T2-T4)
  -  Prior radiation to the pelvis
  -  Peripheral neuropathy (any grade)
  -  Thrombocytopenia, coagulation disorder or an increase in bleeding tendency due to other causes
  -  Known bladder fistula
  -  Hypersensitive or idiosyncratic reaction to mitomycin-C or its components in the past

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

Clinical trial: Optimal Application Dose of Superficial Hyperthermia

Summary: Hyperthermia - a warming of the tumor at 42-43 ° C - in combination with radiation and / or chemotherapy is a proven method of treatment for malignant tumors. The amplification of the effect of radiotherapy and various chemotherapeutic agents (platinum analogues, nitrogen-Lost derivatives, cytotoxic antibiotics) is experimentally demonstrated. Randomized clinical trials have shown a better chance of survival and better local tumor control without increasing the toxicity of combined treatment especially also in children's tumors. The combination of hyperthermia and radiation therapy is more effective than radiotherapy alone. Hyperthermal temperatures increase blood circulation in tumors as a response to stimulation with heat. Tumor tissue, having a minor circulation and being acidotic, is resistant to radiotherapy, but sensitive to hyperthermia, while tumor with a high blood flow is sensitivity to radiation. This positive interaction is a compelling reason for the combination of hyperthermia and ionized radiation.
  Hyperthermia, in combination with chemotherapy, increases the concentration of cytostatics in the tumor region, raising blood flow caused by warmth. In addition, hyperthermia increases toxicity of drugs in cells, being normally resistant to many drugs. Hyperthermia can synergistically be combined with chemotherapy treating "high risk" - tumors with curative intention.
  In addition to the clinical use of surface hyperthermia (BSD 500 - O), with appropriate treatment of tumors up to 3 cm deep from the surface of the body with established indications and palliative indication in advanced stages of cancer, a prospective, randomized study with quality-controlled thermometry shall establish the optimal sequence of Hyperthermia in combination with irradiation. Therefore the treatment sequence of once per weeks is compared to a sequence of three times per week.


Eligibility: Inclusion Criteria:
  -  Surficial tumors (< 3-4 cm)
  -  ≥ 18 years
  -  Karnofsky Index > 60
  -  No other treatment in between 30 d, applicable radiation dose min.30 Gy
  -  Cumulative equivalent minutes 42°C T75
  Exclusion Criteria:
  -  Pregnancy
  -  Pace maker
  -  Metal implants

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

Clinical trial: An Efficacy Study of Combination of Tramadol and Acetaminophen Tablets in the Treatment of Participants With Fibromyalgia Pain

Summary: The purpose of this study is to evaluate the analgesic effect of combination of tramadol hydrochloride and acetaminophen in participants for treatment of fibromyalgia pain (chronic widespread pain and presence of tender points).

Detailed description: This is an open-label (all people know the identity of the intervention) and multi-center (conducted in more than one center) study of combination of tramadol hydrochloride and acetaminophen in treatment of participants with pain of fibromyalgia. The duration of this study will be 56 days per participant. The study consists of 2 parts: Screening (that is, 3 weeks before study commences on Day 1) and Treatment (that is, up to Day 56). All the eligible participants will receive oral tablet for combination of tramadol hydrochloride and acetaminophen. Rescue medication (a medication intended to relieve symptoms immediately) of tylenol (500 milligram, up to 6 oral tablets daily) will be permitted throughout the study duration. Efficacy of the participants will primarily be evaluated by Pain Visual Analog Scale. Participants' safety will be monitored throughout the study.

Eligibility: Inclusion Criteria:
  -  Participants must meet the American College of Rheumatology 1990 criteria for the classification of fibromyalgia (that are, Participants must have had widespread pain [pain in three quadrants and in the axial skeleton] for at least three months and pain on digital palpation in 11 or more of the 18 tender-point sites
  -  Female participants must not be pregnant, breast feeding or postmenopausal for at least one year
  -  Participant must be able to take oral medication
  -  Participants must have completed the Screening or wash-out procedures and have a visual analog scale score greater than or equal to 40 milliliter
  -  Fail to non-opioid analgesics
  Exclusion Criteria:
  -  Participants who previously failed tramadol hydrochloride therapy or those who discontinued tramadol hydrochloride due to adverse events
  -  Participants diagnosed with either any active connective tissue or musculo-skeletal diseases, or malignancy or history of malignancy within past 5 years, or painful, symptomatic osteoarthritis, or regional periarticular pain syndromes, spondyloarthropathy and major endocrine disease
  -  Participants who currently have more severe pain than the pain of fibromyalgia
  -  Participants who have taken antidepressants, cyclobenzaprine or anti-epileptic drugs for pain within three weeks of the Treatment Phase
  -  Participants who have taken short-acting analgesics, topical medications and anesthetics and/or muscle relaxants for a period of less than 21 days of the given medication prior to the Treatment Phase

Relevance to patient case: not relevant