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

Clinical trial: The Value of the Neutrophil to Lymphocyte Ratio in the Diagnosis of Bacterial Infections

Summary: The "gold standard" for diagnosing a bacterial infection is isolation of the pathogenic germ, which is not easy in routine clinical practice.
  Conventional markers do not have sufficient diagnostic value for making a rapid diagnosis on admission. A 2004 literature calculated the diagnostic values of C-reactive protein (CRP) and procalcitonin (PCT) levels for the diagnosis of bacterial infections, relative to other causes of inflammation. For CRP, the sensitivity was 75% (95% CI: 62%-84%) and the specificity was 67% (95% CI: 56%-77%). For PCT, the sensitivity was 88% (95% CI: 62%-84%) and the specificity was 81% (95% CI: 67%-90%).
  The first cellular immune response to infection consists of the mobilization of polynuclear neutrophils from the bone marrow to the infection site under the effect of pre-inflammatory cytokines, as well as the apoptosis of lymphocytes and their sequestration at the infection site. This results in lymphopenia and the elevated polynuclear neutrophil count (PNN) observed in bacterial infections.
  Hence, it is legitimate to hypothesize that the neutrophil to lymphocyte ratio (NLR) can be used in the diagnosis of bacterial infection. This ratio's value in the diagnosis of sepsis in the emergency department was studied and the researchers found higher diagnostic values than for CRP and PCT.
  The NLR's potential value in the diagnosis of a bacterial infection in a context of fever or hyperthermia (regardless of the presence or absence of bacteraemia) has not been studied before. This ratio could also be compared with standard biomarkers (CRP and PCT levels, the white blood cell count and the PNN).


Eligibility: Inclusion Criteria:
  -  All consecutive patients admitted for fever/inflammatory syndrome to the internal medicine department at Amiens University Hospital between January 1 st 2011 and December 31 st 2014 (hyperthermia &gt; 38°5 and/or inflammatory syndrome, defined as an increase in CRP &gt;10 mg/L).
  Exclusion Criteria:
  -  Known conditions or treatments that may influence the blood count (haematological and neoplastic diseases, seropositivity for HIV, chemotherapy, and corticotherapy).
  -  Pregnancy.
  -  A course of antibiotics administered in the 48 hours before the
  -  blood count (risk of sample negativity).

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

Clinical trial: Multicenter RCT of the Clinical Effectiveness of Oncothermia With Chemotherapy in Metastatic Pancreatic Cancer Patients

Summary: Patients with pancreatic cancer often suffer from pain. Because of such a pain, their quality of life have seriously deteriorated. There have been a few studies that showed an effect for pain control by hyperthermia (heating the patient's body). However, there are several limitations in conventional hyperthermia.
  In a previous pilot study (NCT02150135), we found the improvement of quality of life, function, and symptom.
  From this background, the investigators tried to show the effect of "Oncothermia" with conventional chemotherapy for pain control, increasing quality of life, and anti-tumor treatment.


Eligibility: Inclusion Criteria:
  -  Patients with pathologically confirmed pancreatic adenocarcinoma
  -  Patients with radiologically identified metastasis (CT or MRI)
  -  Patients with no history of previous chemotherapy
  -  Patients with ECOG score 0-2
  Exclusion Criteria:
  -  Patients who have an experience of hyperthermia treatment
  -  Patients who have a difficulty of sensing heat
  -  Patients who have a skin graft or breast reconstruction surgery
  -  Patients who have a cardiac pacemaker or an implanted metal
  -  Pregnant or breast feeding women
  -  Patients with uncontrolled infection, diabetes, hypertension, ischemic heart disease, myocardial infarct within 6 months
  -  Patients who were treated with unproved drugs within 30 days
  -  Patients who have a serious disease which can affect the person's safety
  -  Patients who do not consent to the study

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

Clinical trial: Evaluation of Mirus™ for Sedation in Resuscitation

Summary: Current recommendations for the conduct of sédationanalgésie ICU encourage the use of the lightest possible sedation strategies, avoiding the administration of benzodiazepines source of longer durations of ventilation and ICU stay of syndrome cessation, mental confusion. Among the proposed alternatives, administration of halogenated volatile agents (sevoflurane) in resuscitation is interesting because their favorable pharmacokinetic even after prolonged administration: no tachyphylaxis, rapid clearance, no withdrawal syndrome.
  There are two suitable delivery devices sevoflurane in intensive care, both with CE marking. The device Mirus ™ (Pall Medical, Fribourg, Switzerland) is the newest and it is easy to use and reliable. The objective of this study was to evaluate the use of Mirus ™ device in trauma resuscitation and cardiovascular resuscitation.
  Specifically, it will use this modality in case of failure with conventional sedation products (propofol, midazolam): maximum permissible doses, sedation weaning failure due to severe agitation.


Eligibility: Inclusion Criteria:
  -  Patients aged over 18 years
  -  In mechanical ventilation for more than 48 hours
  -  No intracranial hypertension
  -  In severe state of agitation measured by a sedation scale score greater than 2 RASS
  -  Agitation observed in two circumstances: receiving maximal doses of propofol (≥ 5 mg / kg / h) and / or midazolam (≥ 0.2 mg / kg / h), or weaning failure to stop the sedation agitation.
  Exclusion Criteria:
  -  Presence of a severe head injury (Glasgow initial score between 3 and 8) requiring monitoring intracranial pressure and / or treatment of intracranial hypertension
  -  Sedation with dexmedetomidine
  -  Personal or family antecedent of anesthetic malignant hyperthermia
  -  Pregnant woman

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

Clinical trial: The Application of Personalized Titanium Plate in the Bone Tumors Around the Knee

Summary: Microwave ablation of bone tumors is time-consuming and usually results in postoperative fractures. Hence the investigators designed and fabricated a titanium plate customized to the patient's bone structures for fixation after the removal of tumorous tissue, to improve the clinical outcomes of microwave ablation.

Detailed description: 3D models of tumor-bearing bone segments were constructed by using computed tomography (CT) and magnetic resonance imaging (MRI). The 3D models were used to design the model of personalized titanium plates. The model of the plates was transferred into a numerical control machine for manufacturing the personalized titanium plates by 3D printing technology. The plates were then surgically implanted for reconstruction assistance following microwave-induced hyperthermia to remove the bone tumor. Implementation parameters and knee function were then evaluated.

Eligibility: Inclusion Criteria:
  1. Clinical diagnosis of primary malignant bone tumors in the distal femur or proximal tibia according to the preoperative biopsy.
  2. Malignant soft tissue tumor invading distal femur or proximal tibia.
  3. The patients have the opportunity of limb salvage and treatment of microwave-induced hyperthermia in situ and reconstruction with internal fixation.
  Exclusion Criteria:
  1. Distant metastasis.
  2. Benign tumor.
  3. Metastatic tumor around the knee.
  4. No indication of limb salvage.
  5. Malignant soft tissue tumor without bone invasion.
  6. Recrudescent tumors.

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

Clinical trial: Anesthetics to Prevent Lung Injury in Cardiac Surgery

Summary: The purpose of this study is to investigate whether the use of inhaled anesthetics, compared to intravenous anesthetics, can affect the amount of lung inflammation and postoperative respiratory complications seen after cardiac surgery.

Detailed description: Randomized, controlled trial involving 45 adult patients undergoing cardiac surgery with cardiopulmonary bypass. Patients will be randomized to receive either inhaled anesthesia with sevoflurane or total intravenous anesthesia (TIVA) with propofol for the maintenance phase of their cardiac anesthetic. Assessment of lung inflammation will take place using fiberoptic bronchoscopic sampling of lung fluid as well as serum collection before and after exposure to cardiopulmonary bypass, and the incidence of compositive postoperative pulmonary complications will take place in the postoperative period.

Eligibility: Inclusion Criteria:
  -  Adult patients (age 18+)
  -  Undergoing cardiac surgery with cardiopulmonary bypass
  Exclusion Criteria:
  -  Emergency surgery
  -  History of severe COPD, emphysema, or ILD
  -  Recent (<2wk) or current use of systemic glucocorticoids
  -  Prior history of pneumothorax
  -  Allergy/contraindication to intravenous anesthetics
  -  Personal or family history of malignant hyperthermia or high risk for malignant hyperthermia

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

Clinical trial: Chimeric Switch Receptor Modified T Cells for Patients With PD-L1+ Recurrent or Metastatic Malignant Tumors

Summary: A Chimeric Switch Receptor, which was constructed by fusing the PD1 extracellular ligand binding domain to the CD28 intracellular costimulatory domain, was designed to target PD-L 1 positive tumors . In this single-arm, open-label, one center, dose escalation clinical study, the main purpose is to determine the safety and efficacy of infusion of autologous Chimeric Switch Receptor modified T cells (CSR T) in adult patients with PD-L1 positive, recurrent or metastatic malignant tumors.


Eligibility: Inclusion Criteria:
  1. Patients with PD-L1 positive, recurrent or metastatic malignant tumors , including but not limited to pancreatic cancer, renal cancer, colorectal cancer, lymphoma, breast cancer and lung cancer;
  2. measurable tumors by RECIST1.1 standard;
  3. patients are 18 to 70 years old;
  4. life expectancy > 3months;
  5. KPS ≥70;
  6. satisfactory major organ functions: adequate heart function with LVEF≥50%; no obvious abnormities in ECG; pulse oximetry ≥ 90%; cockcroft-gault creatinine clearance≥40 ml/min; alanine aminotransferase (ALT) and aspartate aminotransferase (AST) ≤3ULN; Bilirubin ≤2.0 mg/dl ;
  7. Blood: Hgb ≥ 80 g/L, ANC ≥ 1×10^9/L, PLT ≥ 50×10^9/L;
  8. women of reproductive potential must have a negative pregnancy test. Male and female of reproductive potential must agree to use birth control during the study and one year post study.
  Exclusion Criteria:
  1. patients with a prior history of autoimmune disease or other diseases who need long-term use of systemic hormone drug or immunosuppressive therapy
  2. active infection.
  3. HIV positive.
  4. active hepatitis B virus infection or hepatitis C virus infection.
  5. currently enrolled in other study.
  6. patients, in the opinion of investigators, may not be eligible or are not able to comply with the study.
  7. patients with allergic disease, or are allergic to T cell products or other biological agents used in the study.
  8. patients whose tumors have metastasized to bone, or have clinical signs of bone metastasis, such as bone and joint pain.
  9. patients with brain metastasis, or have clinical signs of brain metastasis, such as loss of self-consciousness.

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

Clinical trial: Anti-mesothelin CAR T Cells for Patients With Recurrent or Metastatic Malignant Tumors

Summary: This is a single-arm, open-label, one center, dose escalation clinical study, to determine the safety and efficacy of infusion of autologous T cells engineered to express chimeric antigen receptor targeting mesothelin in adult patients with mesothelin positive, recurrent or metastatic malignant tumors.


Eligibility: Inclusion Criteria:
  1. patients with mesothelin positive, recurrent or metastatic malignant tumors , including but not limited to pancreatic adenocarcinoma, ovarian cancer, or pleural mesothelioma.
  2. relapsed or metastatic after standard treatment
  3. measurable tumors by RECIST1.1 standard
  4. patients are 18 to 70 years old.
  5. life expectancy > 3months.
  6. KPS ≥70.
  7. satisfactory major organ functions: adequate heart function with LVEF≥50%; no obvious abnormities in ECG; pulse oximetry ≥ 90%; cockcroft-gault creatinine clearance≥40 ml/min; alanine aminotransferase (ALT) and aspartate aminotransferase (AST) ≤3ULN; Bilirubin ≤2.0 mg/dl .
  8. Blood: Hgb ≥ 80 g/L, ANC ≥ 1×10^9/L, PLT ≥ 50×10^9/L.
  9. women of reproductive potential must have a negative pregnancy test. Male and female of reproductive potential must agree to use birth control during the study and one year post study.
  Exclusion Criteria:
  1. patients with a prior history of autoimmune disease or other diseases who need long-term use of systemic hormone drug or immunosuppressive therapy
  2. active infection.
  3. HIV positive.
  4. active hepatitis B virus infection or hepatitis C virus infection.
  5. currently enrolled in other study.
  6. patients, in the opinion of investigators, may not be eligible or are not able to comply with the study.
  7. patients who have allergic disease, or are allergic to T cell products or other biological agents used in the study.
  8. patients whose tumors have metastasized to bone marrow, or have clinical signs of bone metastasis, such as bone and joint pain .
  9. patients who have brain metastasis or signs of brain metastasis, such as loss of self-consciousness.

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

Clinical trial: Malignant Hyperthermia Registry and Genetic Testing

Summary: The purpose of this study is to to determine the penetrance of known and probable pathogenic variants in genes and the factors that contribute to penetrance in a population of children and adults in the United States exposed to Malignant Hyperthermia (MH) trigger agents.

Detailed description: The purpose of the study is to determine how genetic mutations and variants in combination with non-genetic factors influence risk for MH in children who had general anesthesia with triggering agents and develop reliable predictive MH risk algorithms. Rationale: Once the factors responsible for MH risk are determined, it will be possible to better predict risk and develop better individualization of anesthetics such as tailored selection of intravenous anesthetics, regional anesthesia and avoidance of all triggering agents. The long-term goal is to tailor and improve safety of anesthetic and clinical care and to reduce mortality, morbidity and cost of care due to MH with right anesthetics and muscle relaxants for endotracheal intubations for an individual child.

Eligibility: Inclusion Criteria:
  -  Any English speaking person registered at NAHMR who has had a positive clinical manifestation of Malignant Hyperthermia
  -  Any person with a positive Caffeine Halothane Contracture probTest (CHCT) or a close relative of a person that had these.
  Exclusion Criteria:
  -  Any person who has NOT had a positive clinical manifestation of Malignant Hyperthermia
  -  Any person with a positive Caffeine Halothane Contracture Test (CHCT) or NOT a close relative of a person that had these. Non-English speaking registrants will be excluded.

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

Clinical trial: PATET Ratio to Rule Out Transient Tachypnea of the Newborn

Summary: This study aims to find out whether diagnosis of Transient Tachypnea of the Newborn(TTN) can be predicted via evaluating pulmonary artery Doppler indices.

Detailed description: Transient Tachypnea of the Newborn(TTN) is the most common diagnosed disease in state of neonatal respiratory distress. However there is not an adequate method to diagnose or rule out TTN.
  In several studies pulmonary artery Doppler indices are investigated as the possible indicators of pulmonary function. As a result of these studies, physiological processes in fetal lung maturation were established; pulmonary tissue impedance or resistance decreases with increasing gestational age, leading to increased pulmonary blood flow. In a normal lung maturation process the peak sistolic velocity is reached in midsystole, but in case of any reason disturbing the nornal development process,the peak occurs earlier.
  We suggested that TTN, which is a factor increasing pulmonary tissue impedance like respiratory distress syndrome(RDS) and pulmonary hypoplasia, would change pulmonary artery(PA) Doppler indices, thus by the way of evaluating pulmonary artery Doplerr indices, we could predict possible diagnosis of TTN

Eligibility: Inclusion Criteria:
  -  Singleton pregnancies who delivered beyond 34 weeks gestational age
  Exclusion Criteria:
  -  fetal abnormality, chronicle maternal disease, pregnancy complication (preeclampsia, diabetes, intrauterine growth restriction,etc.)

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

Clinical trial: Magnetic Resonance-guided High-Intensity Focused Ultrasound (MR-HIFU) Used for Mild Hyperthermia

Summary: This study will help to elucidate the treatment sites in the extremities and pelvis for which MR-guided HIFU heating is feasible, which has the potential to be beneficial for patients with conditions at those sites (soft tissue sarcoma, cervical cancer, etc.). The investigators anticipate that successful completion of this study will lead to clinical trials in those feasible sites of interest to determine the safety and efficacy of administering therapeutic levels of heat for hyperthermia or other applications.


Eligibility: Inclusion Criteria:
  -  At least 18 years of age
  -  Willing and able to provide informed consent
  -  Patients only: must have a tumor in extremity muscle tissue or in the pelvis.
  Exclusion Criteria:
  -  Contraindications for MRI (e.g., unsafe MRI implanted devices, shrapnel, history of metal fragments in eyes, neurostimulators, excessive size and weight, claustrophobia)
  -  Pregnant

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

Clinical trial: Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies

Summary: Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.

Detailed description: Patients with inherited muscle diseases can have several miscellaneous problems in their muscles, which can be both structural and metabolic. Depending on the specific disease multiple symptoms may be present. All the different diseases can affect the contractility of the muscles. Examples of inherited muscle diseases are congenital myopathies and RYR1-myopathy, afflicting the muscle fiber structure. They are the first subgroups of inherited muscle diseases to be investigated in this study. Congenital myopathies are hereditary and relatively non-progressive diseases. Hypotonia is the clinical characteristic of congenital myopathies and is often presented already in the neonatal period. Almost all patients have generalized muscle weakness and hypotonia. The various subtypes of congenital myopathy are a broad group of disorders defined by the predominance of particular and specific structural abnormalities shown in muscle biopsies. Based on genetic and morphological features, they can be divided into four main groups; one with central cores, one with central nuclei, one with minicores and one with nemaline bodies. RYR1-myopathy is caused by a mutation in the RYR-gene. The RYR1-protein is important in the making of RYR1-receptors and channels responsible for the transport of calcium atoms within muscle cells, particularly in muscle contractions. Patients typically present with limb weakness, decreased fetal movement and skeletal abnormalities. About 70% of patients with malignant hyperthermia have a mutation in the RYR1-gene. MRI findings often include involvement of different muscles in the thigh and the calf.

Eligibility: Inclusion Criteria:
  -  Verified inherited muscle disease.
  -  Age: Over 18 years old
  Exclusion Criteria:
  -  Contraindications for an MRI.
  -  Claustrophobia.
  -  Pregnant or nursing women.
  -  Competing disorders (as arthritis) or other muscle disorders.

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

Clinical trial: Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Summary: The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

Detailed description: If left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. The Engle Lab has investigated the genetics of complex and common strabismus and eyelid movement disorders for over 10 years and the lab's interests have expanded to include Congenital Cranial Dysinnervation Disorders (CCDDs) which are neurological disorders affecting one or more of the 12 cranial nerves. Cranial nerves control bodily functions such as movement of the eyes, transmission of visual information, smell, facial sensation, facial expression, blinking, hearing, balance, taste, chewing and swallowing.
  Based on genetic studies on individuals with eye movement and eyelid disorders, the lab learned that some individuals have additional ocular defects, vascular, limb and other abnormalities. In addition, in some families relatives who carry the gene mutation may manifest the familial syndrome by having only some additional features but NOT the oculomotility disorder. Therefore, to gain greater understanding of the spectrum of the disorders being investigated, we may also enroll individuals without eye movement or lid defects who have symptoms associated with mutations in congenital cranial dysinnervation disorder (CCDD) genes.

Eligibility: Inclusion Criteria:
  -  The Engle Lab is very interested in enrolling individuals with congenital conditions related to eye movement, cranial nerve and brainstem-based dysfunction, often broadly referred to as congenital cranial dysinnervation disorders (CCDDs).
  Exclusion Criteria:
  -  Individuals with cranial nerve disorders associated with known disorders, such as Saethre-Chotzen associated with established genetic mutations, or acquired conditions including trauma, stroke, tumor or spinal cord injuries.

Relevance to patient case: not relevant