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

Clinical trial: Comparison of the Bilateral TAP Block Versus Curare in Muscle Relaxation of the Abdominal Wall During Laparoscopic Digestive Surgery: Prospective Randomized Study

Summary: This is a Biomedical Research, prospective, randomized, controlled single-blind mono centric, phase IV comparison trial of the bilateral TAP block versus curare in muscle relaxation of the abdominal wall during laparoscopic digestive surgery.


Eligibility: Inclusion Criteria:
  -  Patients older than 18 years and under 75 years
  -  Informed consent signed
  -  ASA I, II and III
  -  Patient affiliated to social security
  Exclusion Criteria:
  -  ASA IV
  -  BMI> 35 kg / m
  -  Personal or family history of malignant hyperthermia
  -  History of allergy or hypersensitivity to intravenous anesthetics (remifentanil), local anesthetics or muscle relaxants
  -  Contraindications to sevoflurane: a history of malignant hyperthermia, history of liver disease after sevoflurane anesthesia, halogenated agents or hypersensitivity to any of these components.
  -  Contraindications to succinylcholine: hyperkalemia, plasma cholinesterase deficiency nickname, para or tetraplegia more than 24 hours, burns over 24
  -  Contraindications to cisatracurium: myasthenia
  -  Neuromuscular diseases
  -  Contraindications to local anesthetics: hypersensitivity to local anesthetics of the amide, intravenous regional anesthesia, porphyria, ventricular atrial conduction disturbances, epilepsy uncontrolled by treatment
  -  Pregnancy and lactation
  -  severe coagulation disorders
  -  Inability to understand and give informed consent
  -  Patient under guardianship, curatorship or protected
  -  Indication of use of a hypnotic ketamine (BIS change)

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

Clinical trial: Red Yeast Rice in Subjects With Clinically Localized Prostate Cancer Undergoing Active Surveillance

Summary: Agents that inhibit cholesterol synthesis are being investigated in cancers dependent upon cholesterogenesis. Red yeast rice (RYR), is a reddish-purple fermented rice, containing statins which are known to inhibit cholesterol synthesis. Laboratory studies have also shown that RYR has direct effects on androgen dependent and androgen independent prostate cancer cells, inhibiting their growth. It is thought that RYR may have clinical benefit in those subjects with localized prostate cancer who have chosen to be managed by active surveillance.

Detailed description: Red yeast rice has been promoted as a safe and effective alternative to statin therapy in the treatment of hypercholesterolemia. Red yeast rice has the potential to slow prostate cancer growth by inhibiting cholesterol and androgen biosynthesis. There is a strong rationale for the use of RYR in patients being managed with active surveillance for localized, low risk, prostate cancer. To date, no human studies utilizing RYR in this setting have been reported.

Eligibility: Inclusion Criteria:
  -  histologically diagnosis of prostate adenocarcinoma
  -  being monitored by active surveillance for favourable risk prostate cancer
  -  tumour material from most recent prostate biopsy available with sample
  -  scheduled to have an active surveillance mandated transrectal ultrasound (TRUS) guided biopsy within 6 - 12 months of Day 1 of the study
  Exclusion Criteria:
  -  previous malignancy in the past 5 years
  -  no previous or concurrent treatment for prostate cancer
  -  inability to undergo TRUS biopsy
  -  ECOG > 2
  -  known or previous history of liver disease

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

Clinical trial: North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Detailed description: Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning mitochondria. This can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive, and we are unable to cure most of these diseases with currently available treatments.
  Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help surmount these issues. Led jointly by Drs. Michio Hirano and Salvatore DiMauro, NAMDC is a consortium of several clinicians and researchers with an interest in mitochondrial disease research in the United States and Canada.
  By creating a mechanism for the sharing of patient samples with researchers, data and patient contact information, NAMDC will make it easier to conduct clinical and basic laboratory research.
  Patient information will be shared through the use of the "Patient Data Registry," a specially-designed database, and patient tissue samples will be shared through the use of the "Patient Sample Biorepository", a storage facility in which patient-derived biological samples will be maintained. The Registry and the Biorepository will hopefully accelerate progress in the understanding and treatment of mitochondrial disease.
  Patients can enroll at any of the NAMDC member sites. A web-based remote enrollment is also available at www.namdc.org for eligible patients who reside far from any of the NAMDC participating sites.

Eligibility: Inclusion Criteria:
  -  Patients diagnosed with or suspected to have a mitochondrial disorder
  -  Adult carriers of known mitochondrial DNA mutations
  -  Patients with laboratory analysis indicative of a mitochondrial disorder.
  -  Medical information and tissue samples are also accepted from deceased individuals who fulfill the above criteria.
  Exclusion Criteria:
  -  Patients not suspected of having a mitochondrial disorder
  -  Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.

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

Clinical trial: Vitamin D Supplementation in Cutaneous Malignant Melanoma Outcome

Summary: To assess whether vitamin D supplementation after surgery of a first cutaneous malignant melanoma protects against relapse of the disease.

Detailed description: To assess whether vitamin D supplementation, in the follow up period after diagnosis and surgery of a first cutaneous malignant melanoma, has a protective effect on relapse of cutaneous malignant melanoma and whether this protective effect correlates with vitamin D levels in serum and vitamin D receptor (VDR) immunoreactivity in the primary tumor.

Eligibility: Inclusion Criteria:
  1. Older than 18 years and younger than 80 years of age.
  2. Histologically proven malignant melanoma, stage one B (IB) to three (III) Not participating in other clinical trial.
  3. The only treatment for melanoma is surgical treatment.
  4. Complete resection of melanoma.
  5. Single primary invasive cutaneous melanoma
  6. Signed ethical committee approved informed consent
  7. Serum phosphate, serum calcium at the entry of the study within normal limits of laboratory reference
  Exclusion criteria
  1. Pregnant/lactating women or planning on becoming pregnant during the study
  2. Known hypersensitivity to vitamin D or its components.
  3. Pre-existing renal stone disease, chronic renal disease with glomerular filtration rate (eGFR) < 30 mL/min/1.73 m2 or renal dialysis.
  4. Liver failure or chronic liver disease with liver enzymes > 2 fold upper limit of normal (ULN).
  5. History of parathyroid disease or granulomatous disease (TBC and sarcoidosis)
  6. History of malabsorption syndrome or any medical condition that might interfere with vitamin D absorption.
  7. History of small intestine resection.
  8. History of other malignancy within the last 5 years except for carcinoma in situ of the cervix or basal cell carcinoma or squamous cell carcinoma of the skin or in situ malignant melanoma.
  9. Chronic alcohol abuse.
  10. Medical or logistic problems likely to preclude completion of the study.
  11. Taking medication that predisposes to hypercalcemia (digoxin, lithium, thiazide diuretics) or taking medication that would affect metabolism of vitamin D (anticonvulsants, corticosteroids, H2-receptor antagonists)
  12. Intake of vitamin D supplements within 6 months prior to entry of the study.

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

Clinical trial: IRF-PAI Functional Outcomes Data(With FIM Instrument Variables)

Summary: IRF-PAI Functional Outcomes Data, including FIM instrument variables

Detailed description: United States IRF functional outcomes, medical and socio-demographic data for years 2002-2015

Eligibility: Inclusion Criteria:
  -  Admission to an inpatient rehabilitation facility
  Exclusion Criteria:
  -  Admission to acute, SNF setting, etc.

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

Clinical trial: p-AKT Expression on Clinical Outcomes in Malignant Lymphoma

Summary: PI3K(phosphatidylinositol 3-kinase)/AKT pathway is an important oncogenic signaling pathway. However, clinical information about the significance of p-AKT expression in malignant lymphoma is not fully understood yet. In this study, we investigated the overexpression of p-AKT and its prognostic implication in malignant lymphoma.

Detailed description: Recently, among diverse oncogenic signaling pathways, a number of studies have focused on the significance of oncogenic PI3K/AKT (phophatidylinositol 3-kinase/serine-threonine kinase, also known as protein kinase B [PKB]) pathway. PI3K(phosphatidylinositol 3-kinase)/AKT pathway phosphorylates and activates AKT as phosphorylated AKT (p-AKT) and plays a critical role promoting malignant phenotype and has prognostic significance in various solid cancers.
  However, a systematic approach on the impact of p-AKT overexpression on clinical outcomes has not been performed in malignant lymphoma.

Eligibility: Inclusion Criteria:
  1. the patients were pathologically confirmed of malignant lymphoma, according to the World Health Organization classification;
  2. the patients had adequate paraffin-embedded biopsy specimen or unstained slides for immunostaining of p-AKT.
  Exclusion Criteria:
  1. Primary central nervous system lymphoma was excluded in this study

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

Clinical trial: To Evaluate the Safety and Efficacy of Botulax® Are Not Inferior to Those of Botox® in the Treatment of Glabellar Lines

Summary: To compare the safety and efficacy of Botulax® with Botox® in the improvement of moderate to severe glabellar lines.


Eligibility: Inclusion Criteria:
  -  Men and women aged between 18 and 65
  -  Patients attaining grade 2 or 3 in the investigator's rating of glabellar lines severity at maximum frown
  -  Patients who voluntarily sign the informed consent
  -  Patients who can comply with the study procedures and visit schedule
  Exclusion Criteria:
  -  Subjects who had facial plastic surgery (tissue augmentation, brow lift, and dermal resurfacing)treatment within 6 months. Those who had peeling or laser therapy
  -  Subjects with skin disorders, scar or infection around glabellar region
  -  Subjects who are taking Aspirin, NSAIDS or anti-coagulant
  -  Subjects with facial palsy or eyelid ptosis
  -  Subjects who diagnosed as neuromuscular junction disorder (e.g., myasthenia gravis, Lambert-Eaton Syndrome)
  -  Subjects with history of drug intoxication, alcohol abuse and/or depressive disorder
  -  Subjects with severe internal diseases (cardiovascular, respiratory, renal disease, liver disorder)
  -  Subjects who have previously been treated with botulinum toxin within 3 months (Botulinum toxin type A: 3months, type B: 4 months)
  -  Subject who have administered following drugs within the previous 4 months: Spectinomycin Hydrochloride, Aminoglycoside antibiotics, polypeptide antibiotics, tetracycline antibiotics, lincomycin antibiotics, muscle relaxants, anti-cholinergic agents, benzodiazepine and similar drugs, benzamide drugs, Tubocurarine-type muscle relaxants
  -  Subjects who have possibility to take the drugs listed above
  -  Subjects who have a plan to receive facial cosmetic procedures including dermal filler, chemical peeling and dermabrasion during study period
  -  Subjects who have glabellar lines that are unable to be improved with any physical method
  -  Subjects who have history of hypersensitivity to Botulinum toxin and other agents
  -  Subjects who are pregnant or breast-feeding
  -  Subjects who have a plan to be pregnant in 3months, or who are not doing contraceptive
  -  Subjects who participated in other studies within 30 days or were not passed over 5 times of half life for investigational product
  -  Subjects who are having trouble with acute disease
  -  Subjects who have taken any treatment that can affect to glabellar lines and/or any lines around forehead within the previous 6 months
  -  Subjects who are unable to communicate or follow the instructions
  -  Subjects who are not eligible for this study based on investigator's judgement

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

Clinical trial: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Detailed description: CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:
  -  Contact information: Name, Mailing Address, Phone Number, Email Address
  -  Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity
  -  Health information: Family History, Information related to Diagnosis
  De-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts.
  A subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases.
  Participants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.
  The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS.
  If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.
  CoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided.

Eligibility: Inclusion Criteria:
  -  Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease
  Exclusion Criteria:
  -  Diagnosis of a disease which is not rare

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

Clinical trial: Quality of Life of HIV-infected Participants Switched to Raltegravir Versus Other Antiretroviral Regimens (MK-0518-266)

Summary: This is a multi-center, longitudinal observational study of adult human immunodeficiency virus (HIV) participants at academic and community-based practices in the United States who are switching from first-line to second-line therapy. The study's primary hypothesis is that HIV participants switching to raltegravir-based regimens will have better Medical Outcomes Study-HIV (MOS-HIV) Health Survey scores than participants switched to non-nucleoside reverse transcriptase inhibitor (NNRTI)-based or protease inhibitor (PI)-based regimens.


Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of HIV
  -  Switching antiretroviral regimen(s) for the first time at the start of the study
  Exclusion Criteria:
  -  Currently pregnant
  -  Presence of active tuberculosis, Hepatitis B, and/or Hepatitis C and receiving treatment for the condition(s) during the study period
  -  Presence of active pneumonia or other signs of opportunistic infections at the start of the study
  -  Currently participating in a clinical trial

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

Clinical trial: Endomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy

Summary: Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence.
  Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1).
  Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD.
  The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.


Eligibility: Inclusion Criteria:
  -  Boy between 2 to 15 years old.
  -  Lack of any infectious disease in the last week before the study.
  -  Consent form signed by parents.
  Inclusion Criteria for DMD infant
  -  Clinical suspicion of Duchenne Muscular Dystrophy
  Inclusion Criteria for Control healthy Infant
  -  Lack of any antecedent of congenital cardiac, pulmonary or muscular disease including DMD.
  Exclusion Criteria:
  -  Subjects who are unable or unwilling to tolerate study constraints
  -  Parents of the subject unable or unwilling to undergo informed consent
  -  Subject with no rights from the national health insurance programme

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

Clinical trial: Myotubular Myopathy Event Study

Summary: X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function. To date, over 100 mutations have been described resulting in a range of disease onset and symptom severity. The early onset form presents with neonatal hypotonia, muscle weakness, respiratory distress and an ongoing requirement for continuous ventilatory support with the inability to maintain a sitting position once placed. Males with both later onset and milder symptoms usually do not require ongoing ventilatory support, achieve a higher maximal motor function with ability to sit when placed and even walk, and have improved survival rates. Males with XLMTM may experience complications (events) at birth and throughout their lifetime. The goal of the study is to identify the number of events over twelve months in males with genetically confirmed XLMTM. Parents or affected individuals over the age of 18 years who are able to access telephone will provide answers to an established event survey to evaluate the frequency and types of events. Emergency department, hospital admissions and mortality will be confirmed by obtaining medical reports.
  The investigators hypothesize that there will be no association between the frequency of events and markers of clinical severity including the need for ventilatory support at birth, current level of ventilatory support (no support, support less than 12 hours, support more than 12 hours) and current motor function (walking, sitting without support, inability to sit without support).


Eligibility: Inclusion Criteria:
  -  males with a confirmed MTM1 mutation OR
  -  males with a muscle biopsy consistent with myotubular myopathy AND family history consistent with X-linked inheritance AND
  -  English-speaking parent/guardian of a living male child or a decisionally impaired adult OR English-speaking affected male over 18 years of age who can access telephone
  -  signed study consent
  -  enrolled in the Congenital Muscle Disease International Registry (CMDIR)
  Exclusion Criteria:
  -  males with only a clinical diagnosis of XLMTM but without family history of XLMTM
  -  an affected male who has a genetically confirmed form of centronuclear myopathy (CNM) that is not caused by a mutation in the MTM1 gene
  -  females with MTM1 due to the limited number of females affected and the variability of clinical presentation

Relevance to patient case: not relevant