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

Clinical trial: Regenerative Surgical Treatment of Peri-implantitis

Summary: The purpose of the study is to evaluate if surgical treatment of peri-implantitis with enamel matrix derivative (Emdogain®, EMD) will have an additional effect on the healing outcome, changes in the peri-implant microflora and on the inflammatory response in the periimplant pocket at 12 months.

Detailed description: This is a randomised controlled clinical trial. Recruiting 31 patient with periimplantitis at one or more implants in need for surgical treatment.
  Randomisation to test group (EMD) with surgical treatment and additional application of enamel matrix derivative (Emdogain®) or surgical treatment alone in the control group (non-EMD).
  Treatment of existing periodontitis performed before recruitment. Baseline examination including samples of microbiota and peri-implant fluid followed by surgical treatment. Access surgery to remove chronic inflammatory tissue and clean the implant surface from biofilm and implant stone with hand instrument and ultrasonic device with special tips for implants, followed by polishing the implant surface with a gauze, super floss and rinsing with saline. Allocation with a performed block randomisation at the stage of surgery, after cleaning of implant surface. Application of enamel matrix derivative (Emdogain®) or not, just before closure of flap. After surgery rinsing with chlorhexidine 0.2% twice a day in 6 weeks. No systemic antibiotic used in this study.
  Supportive care program, including hygiene instructions and professional cleaning supragingival at implants and teeth at 2 weeks, 3, 6, 9 and 12 months after treatment.
  Examination with measurements of pocket depth and bone levels at radiographs at baseline just before surgery and 12 months and prevalence of bleeding on probing, pus or recession as well as full mouth plaque score and full mouth bleeding score at 3, 6, 9 and 12 months.
  Microbial sampling performed with endodontic paper points at baseline and 2 weeks after surgery as well 3, 6 and 12 months from implant site with at baseline the deepest pocket.
  Sampling of the peri-implant fluid from the peri-implant pocket at baseline, 3, 6, and 12 months from implant site with at baseline the deepest pocket.
  Removal of bridges performed to give accessibility at baseline examination/surgery and at 12 months.

Eligibility: Inclusion Criteria:
  -  peri-implant angular bone loss ≥3 mm, measured at radiographs
  -  deep pocket ≥5 mm combined with bleeding and/or pus
  Exclusion Criteria:
  -  individuals with uncontrolled diabetes (HbA1c > 7,0%)
  -  individuals where prophylaxis of antibiotic is indicated
  -  medication with prednisolon or other anti-inflammatory drug
  -  medication with gingival hyperplasia known as a side effect
  -  systemic antibiotic intake the last 3 months

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

Clinical trial: Influence of Anesthetic Technique on Acute and Chronic Neuropathic Pain

Summary: Research suggests that the type of anesthesia used for surgery may affect intraoperative stress hormone levels. There is also data to support that an increased level of stress hormones leads to increased pain after surgery. The primary aim of this study is to determine the effect of anesthesia type on long term pain after hernia surgery. In this study, patients undergoing inguinal hernia repair will be randomized to an anesthetic group, either Total Intravenous Anesthesia (TIVA) maintained with propofol or Balanced Inhaled Anesthesia (BIA) maintained with sevoflurane. This will allow us to look at any differences in short and long-term pain after hernia repair depending on type of anesthesia received.


Eligibility: Inclusion Criteria:
  -  All male patients undergoing herniorrhaphy surgery that requires general anesthesia.
  Exclusion Criteria:
  -  Subjects unable to communicate directly with the investigators, due to being non-English speaking, loss of hearing, or incompetence.
  -  A history of malignant hyperthermia, pseudocholinesterase deficiency, or other disease that prevents anesthetic randomization.
  -  Pain-related disorders such as fibromyalgia or other chronic pain syndromes.
  -  Emergency surgery.

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

Clinical trial: A Phase I Study of Lyso-thermosensitive Liposomal Doxorubicin and MR-HIFU for Pediatric Refractory Solid Tumors

Summary: This study is looking to determine the maximum tolerated dose (MTD) and recommended phase 2 dose (RP2D) of lyso-thermosensitive liposomal doxorubicin (LTLD) administered in combination with MR-HIFU in children with relapsed/refractory solid tumors, which may include but are not limited to rhabdomyosarcoma and other soft tissue sarcomas, Ewing's sarcoma family of tumors, osteosarcoma, neuroblastoma, Wilms' tumor, hepatic tumors, and germ cell tumors.

Detailed description: This is phase 1 trial of LTLD with MR-HIFU induced heating in children and young adults with relapsed/refractory solid tumors.
  Part A of the trial will be a traditional dose escalation study to determine the pediatric MTD/RP2D of LTLD combined with MR-HIFU ablation which allows for release of doxorubicin in the ablation zone and peri-ablation margins.
  Part B of the trial will combine LTLD at the MTD/RP2D with MR-HIFU induced mild hyperthermia (MHT) in an expanded cohort.

Eligibility: Inclusion Criteria:
  -  Part A: ≤21 years of age
  -  Part B: ≤ 30 years of age.
  -  Histologically confirmed malignant solid tumor.
  -  Patient must have at least one tumor located in areas accessible to HIFU, which will be defined as the target lesion(s).
  -  Radiographically evaluable or measurable solid tumor target lesion(s).
  -  Malignant tumor that is relapsed or refractory and with no other potentially curative treatment options available.
  -  Must have completed an appropriate washout period from prior therapy.
  -  Karnofsky or Lansky performance level ≥ 50%.
  -  Must have appropriate hematologic, hepatic and renal function.
  -  Adequate cardiac function with ejection fraction > 50%
  Exclusion Criteria:
  -  Clinically significant unrelated systemic illness.
  -  Patients who are pregnant or breast-feeding.
  -  Target lesions that are pulmonary primary tumors or metastases.
  -  Implant or prosthesis or scar tissue within the path of the HIFU beam.
  -  Target lesion <1 cm from nerve plexus, spinal canal, and bowel.
  -  Lesion in the skull.
  -  Inability to undergo MRI and/or contraindication for MRI.
  -  Inability to tolerate stationary position during HIFU.
  -  Previous history of hypersensitivity to doxorubicin or its liposomal formulations.

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

Clinical trial: A Case Control Study of Patients With Diagnosis of Malignant Hyperthermia

Summary: The purpose of the study is to develop methods to identify predictors of Malignant Hyperthermia.

Detailed description: The current study will use the combination of electronic medical records and genomic information in samples of persons who have exhibited signs of Malignant Hyperthermia (MH) or have family history or high risk of MH to see if risk factors can be identified. These will be compared with control samples of children who have been exposed to the same agents which could induce MH, yet showed no signs of the disorder.

Eligibility: Inclusion Criteria:
  -  Malignant hyperthermia cases: Diagnosis of malignant hyperthermia
  -  Control cases: children who participated
  Exclusion Criteria:
  -  Not meeting the inclusion criteria stated above

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

Clinical trial: Exploratory Study to Evaluate QR-010 in Subjects With Cystic Fibrosis ΔF508 CFTR Mutation

Summary: Exploratory proof of concept study to determine whether intranasal administration of QR-010 in subjects with cystic fibrosis, homozygous or compound heterozygous for the ΔF508 mutation, can increase the function of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR).

Detailed description: This is an open-label, multi-center, exploratory study to estimate the effect of intranasal administration of QR-010 on the nasal mucosa in the restoration of CFTR function, as measured by nasal potential difference (NPD), in the nasal epithelium of adult subjects with CF who are homozygous or compound heterozygous for the ΔF508 CFTR mutation.

Eligibility: Inclusion Criteria:
  -  Confirmed diagnosis of CF as defined by iontophoretic pilocarpine sweat chloride test (sweat chloride) of > 60 mmol/L
  -  Nasal potential difference (NPD) measurement at Screening consistent with CF
  -  Confirmation of CFTR gene mutations homozygous or compound heterozygous for the ΔF508 mutation
  -  Body mass index (BMI) of ≥ 18 kg/m2
  -  Non-smoking for a minimum of 2 years
  -  Stable lung function
  -  FEV1 ≥40% of predicted normal for age, gender, and height at Screening
  Exclusion Criteria:
  -  Breast-feeding or pregnant
  -  Acute allergy or infection affecting nasal conditions not resolved within 14 days prior Screening
  -  Use of lumacaftor or ivacaftor
  -  Use of any investigational drug or device
  -  Hemoptysis

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

Clinical trial: Study of DS-8201a in Subjects With Advanced Solid Malignant Tumors

Summary: This is an open-label, two-part, multiple study to evaluate the safety and tolerability of DS-8201a in patients with advanced solid malignant tumors.

Detailed description: This study is one single group of participants in two periods. It is therefore not randomized. The dosage strength will change during the study but all participants will receive the same study drug DS-8201a. So the study is not a true 2 arm study, it is a 2 part study.

Eligibility: Inclusion Criteria:
  -  Eastern Cooperative Oncology Group performance status( PS) of 0 or 1.
  -  Left Ventricular Ejection Fraction (LVEF) ≥ 50%
  Part 1:
  -  Advanced/unresectable or metastatic breast cancer or gastric or gastroesophageal junction adenocarcinoma that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  Part 2a:
  -  Advanced breast cancer with HER2 overexpression that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  -  Treated with ado-trastuzumab emtansine (T-DM1)
  Part 2b:
  -  Advanced gastric or gastroesophageal junction adenocarcinoma with HER2 overexpression that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  -  Treated with trastuzumab
  Part 2c:
  -  Advanced breast cancer with HER2 low expression that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  Part 2d:
  -  Satisfy at least one of the following criteria
  1. Advanced/unresectable or metastatic solid malignant tumor with HER2 expression other than breast cancer and gastric or gastroesophageal junction adenocarcinoma that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  2. Advanced/unresectable or metastatic tumor with HER2 mutation that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  Part 2e:
  -  Advanced breast cancer with HER2 overexpression that is refractory to or intolerable with standard treatment, or for which no standard treatment is available.
  -  Treated with ado-trastuzumab emtansine (T-DM1) (patients with HER2 overexpression only)
  Exclusion Criteria:
  -  Has a medical history of symptomatic Congestive Heart Failure (CHF) (NYHA classes II-IV) or serious cardiac arrhythmia.
  -  Has a medical history of myocardial infarction or unstable angina.
  -  Has a QTc prolongation to > 450 millisecond (ms) in males and > 470 ms in females.
  -  Has a medical history of clinically significant lung diseases

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

Clinical trial: Long-Term Treatment and Follow up of Subjects Completing 24 Months of Treatment With Tesevatinib on Study KD019-101

Summary: Subjects who received tesevatinib in Study KD019-101 and completed 24 months of treatment will continue on the dose of tesevatinib they were receiving at 24 months on the KD019-101 study.


Eligibility: Inclusion Criteria:
  -  The subject must have received 24 months of treatment with tesevatinib on study KD019-101. (Twenty-four months of study drug treatment includes days without treatment that were allowed by the KD019-101 protocol.)
  -  Sexually active subject (male and female) has agreed to use two forms of accepted methods of contraception during the course of the study and for 3 months after the last dose of study drug. Effective birth control includes (a) IUD plus one barrier method; (b) on stable doses of hormonal contraception for at least 3 months (eg, oral, injectable, implant, transdermal) plus one barrier method; or (c) 2 barrier methods. Effective barrier methods are male or female condoms, diaphragms, and spermicides (creams or gels that contain a chemical to kill sperm).
  -  Female subjects of childbearing potential have a negative pregnancy test at screening. Females of childbearing potential are defined as sexually mature women without prior hysterectomy or who have had any evidence of menses in the past 12 months. However, women who have been amenorrheic for 12 or more months are still considered to be of childbearing potential if the amenorrhea is possibly due to prior chemotherapy, anti-estrogens, or ovarian suppression.

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

Clinical trial: Local mEHT + TCM Versus Intraperitoneal Chemoinfusion in Treatment of Malignant Ascites: Phase II RCT

Summary: This trial studies efficacy and safety of combination of modulated electro-hyperthermia (mEHT) with Traditional Chinese Medicine (TCM) in treatment of peritoneal carcinomatosis with malignant ascites versus standard chemoinfusion (CDDP+5FU).

Detailed description: Conservative treatment of peritoneal carcinomatosis with malignant ascites (PCMA) is based on chemoinfusion with its inherent toxicity. There is a strong demand for a safe and non-toxic method of treatment of PCMA. The new technology of modulated electro-hyperthermia (mEHT) has proven efficacy in many advanced cancers with minimal side effects and synergy with Traditional Chinese Medicine (TCM). TCM has a long history of application at advanced cancer as a symptomatic treatment and enhancer of the general resistance of the organism. Shi Pi Decoction is supposed to be the optimum co-treatment of PCMA according to principles of TCM. Intraperitoneal chemoinfusion (IPCI) with cisplatin and fluorouracil is a widespread standard treatment of PCMA in China. This randomized II phase trial studies efficacy and safety of combination of mEHT with TCM in treatment of PCMA versus standard IPCI (CDDP+5FU).

Eligibility: Inclusion Criteria:
  -  Pathologically confirmed PC with malignant ascites.
  -  Karnofsky Performance Status (KPS) score ≥60%.
  -  Normal function of bone marrow.
  -  Predicted survival time >1 month.
  -  Written informed consent.
  Exclusion Criteria:
  -  Surgery within 3 weeks or not full recovery of postoperative suture.
  -  Active bleeding or vascular occlusion in the mEHT treatment area.
  -  Emotional instability.
  -  Impossibility to place the patient into the mEHT machine.
  -  Metallic implants or replacements in the treatment area.
  -  Electronic implanted devices anywhere.
  -  Missing or damaged heat-sense nerves or other field-sensitive issues in the treatment area.
  -  Very low white blood cell count (<1.5×10(9)/L), agranulocytosis (<0.5×10(9)/L) or severe anemia.

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

Clinical trial: Prevalence of Genetic Polymporphism on RNF213 rs112735431 Gene in Non-cardioemboli Ischemic Cerebrovascular Disease

Summary: To explore the prevalence of genetic polymorphism on RNF213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease in Thai patients.

Detailed description: This is an cross-sectional observational study in Chulalongkorn hospital, to determine the prevalence of genetic polymorphism on RNF213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease. Patients who are potentially eligible for study participation will be identified through a chart review of patients who were admitted in Chulalongkorn Hospital for acute ischemic stroke treatment.

Eligibility: Inclusion Criteria:
  -  Nationality in Thailand
  -  Age equal or more than 18 years
  -  Clinical and imaging diagnosis of acute ischemic stroke
  -  Patient consent to participate in the research
  Exclusion Criteria:
  -  High risk for cardioembolic stroke by TOAST classification
  -  Contraindication for venipuncture
  -  Pregnancy or breast feeding patient
  -  History of head and neck radiation
  -  Down's syndrome
  -  Marfan syndrome
  -  Autoimmune disease such as SLE
  -  Ongoing malignancy or remission of malignancy less than 1year

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

Clinical trial: Comparison of Deep Neuromuscular Block and Moderate Neuromuscular Block on Quality of Recovery in Patients Undergoing Robotic Gastrectomy

Summary: The purpose of this study is to investigate and compare the postoperative quality of recovery between the deep neuromuscular blockade and moderate neuromuscular blockade during robotic gastrectomy.


Eligibility: Inclusion Criteria:
  -  adult patients aged 19-80 years who are scheduled for robotic gastrectomy
  Exclusion Criteria:
  -  Neuromuscular disease
  -  History of malignant hyperthermia
  -  Significant renal or hepatic dysfunction
  -  Allergy to sugammadex or rocuronium

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

Clinical trial: CD22 Targeting CAR-T Therapy Against B Cell Hematological Malignancies

Summary: CD19 expression on B cell frequently lost after CD19-targeting CAR-T therapy. In present study, we construct a CD22-targeting chimeric antigen receptor to overcome this issue.

Detailed description: CD19 is an ideal target with great potential for treating B-cell-derived hematological malignancies. Although the complete remission rate is as high as 93% by using CD19-targeting CAR-T technology, approximately 60% patients will have recurrent disease. Among all the recurrent patients, two thirds is revealed to loss their CD19 expression on B cell surface. For overcoming this issue, we establish a new chimeric antigen receptor containing humanized single chain antibody sequence to target CD22 molecule on B cells.

Eligibility: Inclusion Criteria:
  -  Greater than four years of age
  -  Survival time>12 weeks
  -  B cell hematological malignancies by pathological examination
  -  Chemotherapy failure or recurrent B cell malignancy
  -  Creatinine< 2.5mg/dl
  -  Glutamic-pyruvic transaminase, glutamic oxalacetic transaminase< 3 fold of normal level
  -  Bilirubin<2.0mg/dl
  -  Karnofsky Performance Status>50% at the time of screening
  -  Adequate pulmonary, renal, hepatic, and cardiac function
  -  Fail in autologous or allogenic haemopoietic stem cell transplantation
  -  Free of leukocytes removal contraindications
  -  Voluntarily join CAR-T clinical trial
  -  Understand and sign written informed consent
  Exclusion Criteria:
  -  Pregnant or nursing women
  -  Active hepatitis B, active hepatitis C, or any human immunodeficiency virus (HIV) infection at the time of screening
  -  Feasibility assessment proves that the efficiency of transduction of lymphocyte is below 10% or the lymphocyte cannot be propagated.
  -  Abnormal vital signs
  -  Highly allergic constitution or history of severe allergies, especially allergy to interleukin-2
  -  General infection or local severe infection, or other infection that is not controlled
  -  Dysfunction in lung, heart, kidney and brain
  -  Severe autoimmune diseases
  -  Other symptoms that are not applicable for CAR-T

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

Clinical trial: Online Interventions for Gamblers With and Without Co-occurring Mental Health Concerns

Summary: Comorbidity between problem gambling and mental health concerns such as anxiety and depression is common. Further, the treatment needs of people with co-occurring gambling and mental health concerns may be different from those of problem gamblers who do not have a co-occurring mental health concern. The present study is a two-arm, double blinded, parallel group randomized controlled trial (RCT) that will evaluate whether there is a benefit to providing access to mental health Internet interventions (G+MH intervention) in addition to an Internet intervention for problem gambling (G-only intervention) in participants with gambling problems who do or do not have co-occurring mental health concerns.

Detailed description: People with gambling concerns will be recruited using targeted advertisements. Potential participants will be screened using an online survey to identify participants meeting criteria for problem gambling. As part of the baseline screening process, measures of current depression and anxiety will be assessed. Eligible participants agreeing to take part in the study will be randomized to one of two versions of an online intervention for gamblers - an intervention that just targets gambling issues (G-only) versus one that contains interventions for anxiety and depression in addition to an intervention for gamblers (G+MH). It is predicted that problem gamblers who do not have co-occurring mental health concerns will display no significant difference between intervention conditions at a six-month follow-up. However, for those with co-occurring mental health concerns, it is predicted that participants receiving access to G+MH website will display significantly reduced gambling outcomes at six-month follow-up as compared to those provided with G-only website.

Eligibility: Inclusion Criteria:
  -  18 years of age or over
  -  Score of 3 or greater on the Problem Gambling Severity Index of the Canadian Problem Gambling Index (PGSI- CPGI)
  Exclusion Criteria:
  -  None

Relevance to patient case: not relevant