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

Clinical trial: Study Protocol Evaluating Transient Tachypnoea of the Newborn in Term and Near Term Neonates

Summary: Transient tachypnoea of the newborn (TTN) is a common cause of hospitalisation in the neonatal period, complicating 1 to 1,5 per cent life birth. Predisposing factors are prematurity, birth after C section, especially before the onset of labor. The main factor leading to this condition is a lack of absorption of the fluid contained in the alveolar space resulting in an early respiratory distress which normally resolves in two to five days with oxygen supplementation.
  Meanwhile, some neonates will experience a complicated evolution requiring ventilatory support and hospitalisatioon in neonatal intensive care unit. This complication is not preventable and could result either of a surfactant deficiency (primary or secondary) or a persistent pulmonary hypertension of the neonate (PPHN).
  In this study, a cohort of newborn presenting TTN will be followed, in order to evaluate, at initial admission, pulmonary maturation (with fetal lung maturity test and the stable microbubble test) and to seek for PPHN (echochardiography). Therapeutic management will be done according to standard care and classification of the neonate will be performed according to their clinical evolution: group 1 (uncomplicated TTN) and group 2 (complicated TTN).
  Statistical analysis will compare results of the tests at initial evaluation in the two groups, and accuracy of the tests to predict a complicated evolution will be established.


Eligibility: Inclusion Criteria:
  -  Neonate > or = 34 weeks GA admitted in the first 6 hours of life with the suspected diagnosis of TTN (respiratory rate > 60/mn, SpO2 < 90% in room air, ilvermann score > 0
  -  Parental consent obtained
  Exclusion Criteria:
  -  GA> 42 weeks
  -  meconial amniotic fluid
  -  early onset neonatal sepsis (septic shock)
  -  congenital malformations
  -  enteral feeding started before admission
  -  no parental consent

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

Clinical trial: CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome

Summary: The aim of the study is to test the hypothesis that a chromoscopy colonoscopy is able to increase by 50 % the number of pre-cancer lesions or early cancer detected in patients with HNPCC syndrome, compared to a routine colonoscopy without chromoscopy.

Detailed description: Patient with HNPCC syndrome confirmed by a mutation (MLH1, MSH2, MHS1) are involved in the study. Patient have 2 colonoscopy back to back. The second coloscopy is associated to chromoscopy with carmin indigo. Endoscopist are randomised for the colonoscopy with chromoscopy and are un-awarded of the result of the first colonoscopy. Histopathology of the polyp are noted. The follow up were 1 month.

Eligibility: Inclusion Criteria:
  -  Patients with MLH1, MSH2 or MSH6 mutation.
  -  Patients concerned by early detection colonoscopy.
  Exclusion Criteria:
  -  Coloscopy of tracking since less 1an
  -  occlusive Syndrome contra-indicating the preparation for a total coloscopies
  -  Colectomies
  -  medical Conditions or serious illnesses contra-indicating a coloscopy of screening
  -  pregnant Woman or nursing
  -  Anomaly of coagulation contra-indicating the realization of biopsies and/or the exeresis of the lesion colorectal

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

Clinical trial: A Study of the Safety and Effectiveness of Oral Levofloxacin Compared With Oral Ciprofloxacin in the Treatment of Adults With Mild to Moderate Infections of the Skin and the Supportive Layers Beneath the Skin

Summary: The purpose of this study is to evaluate the safety and effectiveness of levofloxacin, an antibiotic, compared with ciprofloxacin, another antibiotic, in the treatment of adults with mild to moderate infections of the skin and the supportive layers beneath the skin.

Detailed description: Levofloxacin is an antibacterial agent used for the treatment of many types of infections in adults. This is a randomized, open-label, parallel group, multicenter study to determine the safety and effectiveness of levofloxacin (500 mg by mouth once daily for 7-10 days) compared with another frequently used antibiotic, ciprofloxacin (500 mg by mouth every 12 hours for 7 -10 days), in adults with mild to moderate infections of the skin and the supportive layers beneath the skin. The study consists of 3 visits: one visit [pre-therapy] for screening and enrollment, and two visits to assess safety and effectiveness (one visit [on-therapy] on Days 3 - 5 of the study and one visit [post-therapy] 2 - 7 days after the last dose of the study drug). The total duration of patient participation in the study is approximately 2 weeks. The primary assessments of effectiveness include the clinical response to treatment (defined at post-therapy as cured, improved or failed) and the microbiological response at post-therapy (the rate of eradication of the disease-causing bacteria, determined by patient and by type of bacteria). Safety evaluations (incidence of adverse events, physical examination, physical examination of the skin, and laboratory tests) are performed throughout the study. The study hypothesis is that treatment with levofloxacin is at least as effective and as well tolerated as treatment with ciprofloxacin in patients with mild to moderate infections of the skin and the supportive layers beneath the skin. Levofloxacin 500 mg by mouth once daily, or ciprofloxacin 500 mg by mouth every 12 hours. The duration of treatment is 7 to 10 days.

Eligibility: Inclusion Criteria:
  -  Diagnosis of mild to moderate infection of the skin and/or the supportive layers beneath the skin, as indicated by pain at the site of the infection, redness, drainage, swelling, or other relevant clinical signs
  -  tissue sample available from the area of the skin affected by the bacteria
  -  able to take medication by mouth
  Exclusion Criteria:
  -  Patients with a condition requiring treatment with antibiotics by injection into a vein, a muscle, or beneath the skin
  -  having a severe infection
  -  previous allergic or serious adverse reactions to similar antibiotics
  -  taken antibiotics internally within 48 hours of the start of the study with resulting improvement
  -  require a second antibiotic taken internally or need an antibiotic applied directly to the site of the infection in addition to the study drug

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

Clinical trial: Efficacy of Chemotherapy Combined With Regional Hypothermia in Advanced Malignant Melanoma Patients With Progressive Soft Tissue Metastases

Summary: The incidence of malignant melanoma continues to rise throughout the world. Approximately 12 in 100,000 Germans are diagnosed with malignant melanoma per year. Malignant melanoma is often very aggressive since it may spread both through the lymphatic system and the bloodstream at an early stage of disease.
  While treatment of localized disease is mostly surgical, in patients with extensive disease, prognosis remains poor; the primary standard therapy of metastastic disease comprises dacarbazine (DTIC) eventually combined with other chemotherapeutic agents e.g., cisplatin or BCNU. The duration of response to systemic chemotherapy is generally short and so far, no standard second-line treatment has been established.
  To study the potential additional therapeutic effects of regional hyperthermia in advanced malignant melanoma patients with progressive chemotherapy refractory soft tissue metastases, in the present trial, we sought to compine local hyperthermia with concomitant systemic second-line chemotherapy.


Eligibility: Inclusion Criteria:
  -  age between 18 and 70
  -  histologically proven malignant melanoma with advanced inoperable soft tissue metastases
  -  progressive disease upon systemic first-line chemotherapy
  -  2 or more bidimensionally measurable soft tisue lesions
  -  WHO performance status (ECOG) of 2 or more
  -  life expectancy of 8 weeks and more
  -  prior informed consent
  Exclusion Criteria:
  -  participation in other therapy studies
  -  pregnancy or breast feeding
  -  concomitant clinically significant infection
  -  cardiac pacemaker or other medical implants, or implants within the hyperthermia treated region (including a safe distance of 5 cm)
  -  lack of physiological heat sensitivity within the hyperthermia treated region (including a safe distance of 5 cm)

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

Clinical trial: Trial to Compare Time to Response in the Symptoms of Anxiety to Concomitant Treatment With Niravam™ and an SSRI or SNRI to Treatment With an SSRI or SNRI Alone in Subjects With Generalized Anxiety Disorder or Panic Disorder

Summary: An 8-week, open-label trial in 848 subjects at 212 sites to compare time to response in symptoms of anxiety in subjects treated with Niravam™ and a newly prescribed Selective Serotonin Reuptake Inhibitor (SSRI)or Serotonin and Norepinephrine Reuptake Inhibitor (SNRI) to that in subjects treated with a newly prescribed SSRI/SNRI alone. Subjects must be at least 18 years of age and positive for Generalized Anxiety Disorder (GAD)or Panic Disorder. Subjects will be randomized to receive concomitant Niravam™ and an SSRI/SNRI or an SSRI/SNRI alone during the study. Most symptom evaluations will be done using an automated phone interview system. There are 4 clinic visits.


Eligibility: Inclusion Criteria:
  -  Must be at least 18 years of age.
  -  Diagnosed by the Investigator with primary Generalized Anxiety Disorder (GAD) and/or primary Panic Disorder with or without agoraphobia, either primary episode or recurrence, and is positive for GAD or Panic Disorder by the MHS (Mental Health Screener)).
  -  Receiving a new prescription for all SSRI or SNRI as indicated for GAD or Panic Disorder with or without agoraphobia. Definition of a new prescription in case of a recurrence in symptoms is no prescription or refill of prescription of SSRI or SNRI for the past 6 months.
  -  Subject is informed and given ample time and opportunity to think about his/her participation and has given his/her written informed consent.
  Exclusion Criteria:
  -  Presence of medical condition or presence of schizophrenia, bipolar disorder, alcohol abuse/dependence or any other primary major psychiatric disorder that, in the opinion of the Investigator, would jeopardize the subject or compromise the subject's ability to participate in the trial.
  -  Is a current suicide risk in the opinion of the Investigator.
  -  Has initiated cognitive therapy within two months of Study Day 1.
  -  Does not speak English or does not hear well enough to be able to perform the Hamilton Anxiety (HAM-A) Rating Scale and Mental Health Screener (MHS) by Interactive Voice Response System (IVRS).
  -  Has taken a benzodiazepine within the past 30 days.
  -  History of hypersensitivity or allergic response to any of the components of SSRIs, SNRIs, benzodiazepines, or related drugs.
  -  If a female of child-bearing potential, is pregnant, nursing, or not using appropriate birth control methods.
  -  Presence of contraindications to the SSRI or SNRI to be prescribed per the specific package insert.
  -  Presence of acute narrow angle glaucoma or taking ketoconazole or itraconazole,which are contraindications to Niravam per the package insert.
  -  History of phenylketonuria (PKU).
  -  Participation in a previous clinical trial within 30 days prior to Study Day 1.

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

Clinical trial: Use of Sugammadex at the End of Case in Routine Anesthesia (MK-8616-023)

Summary: The primary purpose of the study is to determine the time-course of recovery to a T4/T1 ratio of 0.9 within 4 minutes after 4.0 mg.kg^-1 Sugammadex is administered at least 15 minutes after the last administration of rocuronium in a wide range of surgical procedures and anesthetic regimens (routine use). Safety evaluation is part of the study.


Eligibility: Inclusion criteria:
  -  American Society of Anesthesiologists (ASA) Class 1-3 participants who are scheduled to undergo an elective surgical procedure under general anesthesia requiring neuromuscular relaxation with the use of rocuronium.
  Exclusion criteria:
  -  Participants with neuromuscular disorders, significant renal dysfunction, malignant hyperthermia, allergy to medications used in general anesthesia and in whom difficult intubation is expected.
  -  Participants taking medications known to interfere with neuromuscular blocking agents.
  -  Participants who are of child-bearing potential, pregnant, and breast feeding

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

Clinical trial: Late-Onset Treatment Study Extension Protocol

Summary: Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The objective of this extension study is to assess the long-term safety and efficacy of alglucosidase alfa treatment in patients with Late-Onset Pompe Disease who were previously treated under the placebo-controlled, double-blind study AGLU02704 (NCT00158600).


Eligibility: Inclusion Criteria:
  -  Patient must have completed protocol AGLU02704 (NCT00158600)
  -  Patient must provide signed, informed consent prior to performing any study-related procedures
  -  Patient (and patient's legal guardian if patient is under 18 years of age) must have the ability to comply with the clinical protocol
  -  A female patient of childbearing potential must have a negative pregnancy test at Baseline. (note: all female patients of childbearing potential and sexually mature males must use a medically accepted method of contraception throughout the study.)
  Exclusion Criteria:
  -  The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, would preclude treatment with alglucosidase alfa.

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

Clinical trial: Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome

Summary: This study is designed to provide efficacy and safety data for ACZ885 (a fully human anti-interleukin-1beta (anti-IL-1beta) monoclonal antibody) administered as an injection subcutaneously (s.c.) in patients with Muckle-Wells Syndrome.
  Part I is an 8-week open-label, active treatment period to identify ACZ885 responders.
  Part II is a double-blind, placebo-controlled period to assess primarily the efficacy of ACZ885 compared to placebo.
  Part III is an open-label, active treatment period where patients will receive ACZ885 every 8 weeks after withdrawal or completion of Part II.


Eligibility: Inclusion Criteria:
  -  Molecular diagnosis of NALP3 mutations and clinical picture resembling Muckle-Wells Syndrome.
  -  Muckle-Wells Syndrome patients who participated in the CACZ885A2102 study, will have the option to participate in this study upon disease flare
  -  Muckle-Wells Syndrome patients requiring medical intervention either untreated or treated (i.e. under ACZ885, anakinra, or any other investigational IL-1 blocking therapy).
  Exclusion Criteria:
  -  History of being immunocompromised, including a positive HIV at screening test result.
  -  No live vaccinations within 3 months prior to the start of the trial, during the trial, and up to 3 months following the last dose.
  -  History of significant medical conditions, which in the Investigator's opinion would exclude the patient from participating in this trial.
  -  History of recurrent and/or evidence of active bacterial, fungal, or viral infections.
  -  Positive tuberculin skin test at 48 to 72 hours after administration at the screening visit or within 2 months prior to the screening visit, according to national guidelines.
  Other protocol-defined inclusion/exclusion criteria may apply

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

Clinical trial: Study of Antibiotic Utilization Measures and Control of ESBLs in China

Summary: A single-center, prospective, comparative, antibiotic intervention study for patients admitted to MICU1 and MICU2

Detailed description: 1. To determine the value of using β-lactamases inhibitors in reducing the cases of ESBL producing E. coli or K. pneumoniae colonization and infection after 12 months.
  2. To compare the acquisition rates of ESBL producing E. coli or K. pneumoniae at MICU1 and MICU2 after 12 months

Eligibility: Inclusion Criteria:
  -  All patients admitted or transferred to the ICU/burn units.
  -  Patients of either sex, 18 years of age or older.
  Exclusion Criteria:
  -  Patient with hypersensitivity to penicillins, cephalosporins, and beta-lactamase inhibitors.

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

Clinical trial: Phase I Chinese PK

Summary: An open, phase 1 to assess the PK of rising doses of ZD6474 when administered daily in Chinese patients with advanced solid malignant tumors.


Eligibility: Inclusion Criteria:
  -  histological and/or cytological confirmation of a malignant solid tumor
  -  refractory to standard therapies or for which no appropriate therapies exist
  -  WHO performance status 0-2
  Exclusion Criteria:
  -  patients with brain tumors or symptomatic cerebral metastases
  -  systemic anticancer therapy within the last 4 weeks

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

Clinical trial: Opioid-potentiated Volative Anaesthetic Vs. Remifentanil And Propofol During Abdominal Aortic Aneurysm Surgery

Summary: Comparing 2 different anaesthetic methods during abdominal aortic aneurysm surgery. The patients will be followed up 30 days postoperative. Number of patients included will be 200. Perioperative details will be analyzed.


Eligibility: Inclusion Criteria:
  -  Patients who are planned for open, elective abdominal aortic aneurysm surgery.
  -  ASA group 1-4.
  Exclusion Criteria:
  -  Patients below 18 years.
  -  Patients who are included in other pharmaceutical studies.
  -  Opioids-, benzodiazepins-, antiepileptic drugs-, alcohol- and α2-agonists abuse.
  -  Pregnant and breastfeeding women.
  -  Patients with familiar history of malignant hyperthermia.
  -  Patients with known hypersensitivity for opioids, propofol or volative anaesthetics.
  -  Patients with considerable arrythmia (atrial fibrillation /atrial flutter is acceptable). Uncontrolled hypertension, serious psychiatric disease.
  -  Patients with unstable angina pectoris or myocardial infarction last month before inclusion.
  -  Acute abdominal aortic surgery. Acute dissection or rupture.
  -  Planned laparoscopic abdominal aortic aneurysm surgery.

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

Clinical trial: Sugammadex After Continuous Infusion of Rocuronium During Sevoflurane and Propofol Anesthesia (P05949; MK-8616-028)

Summary: The objective of the trial was to show equivalence in recovery from neuromuscular block after a single dose of 4.0 mg/kg sugammadex, administered at first twitch (T1) 3-10% after continuous infusion of rocuronium, between participants receiving maintenance anesthesia using propofol and participants receiving sevoflurane, to investigate the safety and to compare the plasma levels of rocuronium in participants after continuous infusion of rocuronium and before the administration of sugammadex, under either propofol or sevoflurane anesthesia.


Eligibility: Inclusion Criteria:
  -  Participants at least 20 years but under 65 years of age;
  -  Participants of American Society of Anesthesiologists (ASA) class 1-3;
  -  Participants scheduled for a surgical procedure under general anesthesia requiring neuromuscular relaxation with the use of a neuromuscular blocking agent (NMBA) with an anticipated duration of surgery between 2 and 5 hours;
  -  Participants scheduled for a surgical procedure in supine position;
  -  Participants who had given written informed consent.
  Exclusion Criteria:
  -  Participants in whom difficult intubation was expected because of anatomical malformations;
  -  Participants known or suspected to have neuromuscular disorders affecting NMB and/or significant renal dysfunction. In Germany, this also included serum creatinine and blood urea nitrogen outside local reference ranges;
  -  Participants known or suspected to have a (family) history of malignant hyperthermia;
  -  Participants known or suspected to have an allergy to medications used during general anesthesia;
  -  Participants receiving medication interfering with NMBAs, such as antibiotics, anticonvulsants and Mg^2+; based on the dose and time of administration;
  -  Pregnant or lactating females;
  -  Female participants of childbearing potential not using any birth control or using only hormonal contraception as birth control;
  -  Participants who had already participated in trial CT 19.4.312, or in another trial with sugammadex;
  -  Participants who had participated in another clinical trial, not pre-approved by Organon, within 30 days of entering into CT 19.4.312.

Relevance to patient case: not relevant