araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: EMD and/or Bone Substitute for the Treatment of Class II Furcations

Summary: To clinically evaluate the treatment of mandibular class II furcation defects with enamel matrix derivative (EMD) and/or a bone substitute graft make of beta tricalcium phosphate/hydroxyapatite (βTCP/HA).

Detailed description: To clinically evaluate the treatment of mandibular class II furcation defects with enamel matrix derivative (EMD) and/or a bone substitute graft make of beta tricalcium phosphate/hydroxyapatite (βTCP/HA). Forty-one patients, presenting a mandibular class II buccal furcation defect, probing pocket depth (PPD) ≥ 4 mm and bleeding on probing, will be included. They will be randomly assigned to the groups: 1- EMD (n = 13); 2- βTCP/HA (n = 14); 3- EMD + βTCP/HA (n = 14). Relative gingival margin position (RGMP), relative vertical and horizontal attachment level (RVCAL and RHCAL) and PPD will be evaluated at baseline and 12 months. The mean horizontal clinical attachment level gain will be considered the primary outcome variable.

Eligibility: Inclusion Criteria:
  -  Males and females, between 18-75 years of age;
  -  Presence of a mandibular molar with buccal class-II furcation defect, presenting PD ≥ 4mm, bleeding on probing (BOP), minimum (<1 mm) or no gingival recession after non-surgical therapy;
  -  Good general health;
  -  Minimum interproximal bone loss (< 2 mm).
  Exclusion Criteria:
  -  Pregnant or lactating;
  -  Required antibiotic pre-medication for the performance of periodontal examination and treatment;
  -  Suffered from any other systemic diseases (cardiovascular, pulmonary, liver, cerebral, diseases or diabetes);
  -  Had received antibiotic treatment in the previous 3 months;
  -  Were taking long-term anti-inflammatory drugs;
  -  Had received a course of periodontal treatment within the last 6 months;
  -  Smokers.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

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: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Vitamin D Supplementation Can Improve Heart Function in Idiopathic Cardiomyopathy

Summary: Vitamin D deficiency could be a high risk for cardiovascular diseases. It has been recently reported that vitamin D deficiency is another cause of heart failure and cardiomyopathies. It was found that vitamin D supplementation improved the heart function. The purpose of this study is to evaluate patients with idiopathic cardiomyopathies and determine whether vitamin D supplementation in cases where there is a deficiency, improves heart functioning.


Eligibility: Inclusion Criteria:
  -  Patients with idiopathic cardiomyopathy
  Exclusion Criteria:
  -  Post heart surgery
  -  Congenital heart disease

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Thermal Imaging in Neonates: A Feasibility Study in Healthy Babies and Babies With Suspected TTN

Summary: This is a study to evaluate thermal imaging as a technology to monitor the normal clearing of amniotic fluid from healthy newborns and newborns suspected of having a condition called transient tachypnea of the newborn, or TTN. Thermal images are taken using an imaging device that attaches to an iPhone. This device, commercially known as FLIR ONE, creates a non-identifiable image based on the heat pattern of an object. In this case, the object is a child's chest and back. It does not emit any radiation like an x-ray does.


Eligibility: Inclusion Criteria (healthy and suspected TTN babies):
  -  Full term (greater than or equal to 37 weeks gestation)
  -  less than 3 days old
  -  born via normal vaginal delivery
  Inclusion Criteria (only for suspected TTN babies):
  -  neonatologist assesses baby as possibly having TTN
  -  chest x-ray done as part of evaluation for TTN
  -  no other significant co-morbid conditions present
  Exclusion Criteria:
  -  parents do not consent to have baby participate

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Recovery of Hibernating Myocardium in End Stage Heart Failure

Summary: This study will collect clinical, echocardiographic, nuclear imaging and hemodynamic data in a group of patients with end stage ischemic cardiomyopathy undergoing left ventricular assist device (LVAD) implantation to investigate the incidence of recovery of myocardial function when supported with LVADs, and to study the association between hibernating myocardium and myocardial recovery in this population.

Detailed description: Clinical, echocardiographic and hemodynamic data will be obtained from the patients' medical records. Assessment of viability will be performed using a Tl-201 Rest-Redistribution Scintigraphy protocol within 2 weeks before LVAD implantation and 2 months after LVAD implant. Recovery of myocardial function will be assessed using available 2D transthoracic echocardiographic images and with the novel imaging modality, Speckle Tracking Echocardiography (STE), in order to provide a regional quantification of the myocardium, in the context of TL-201 results. Transthoracic echocardiograms will be performed 2 weeks prior to the LVAD implant and 1, 2, 3, 4, 6, 9, and 12 months after implantation.

Eligibility: Inclusion Criteria:
  1. Male or non-pregnant female >= 18 years of age.
  2. End stage chronic and dilated ischemic cardiomyopathy requiring LVAD support.
  3. Ability to understand and sign a written informed consent form, which must be obtained prior to initiation of any study procedures.
  Ischemic cardiomyopathy is defined by a LVEF < 40% and any of the following:
  -  History of myocardial infarction or revascularization.
  -  History of angina or chest pain and evidence of scarring in non-invasive imaging studies corresponding to previous myocardial infarction.
  -  Presence of ≥ 75% stenosis of the left main or proximal left anterior descending artery, or ≥ 75% stenosis of 2 or more epicardial vessels in a patient with unexplained cardiomyopathy.
  Exclusion Criteria:
  -  Pregnant and/or lactating women and women of child bearing potential who are not using acceptable means of contraception. Women of childbearing potential must be using adequate measures of contraception (as determined by the Investigator) to avoid pregnancy and should be highly unlikely to conceive during the study period. Women of childbearing potential must have a negative pregnancy test at screen.
  -  Patients with acute forms of HF: acute onset of symptoms < 3 months, no left and right ventricular dilation.
  -  Other conditions that in the opinion of the Principal Investigator may increase risk to the subject and/or compromise the quality of the clinical trial.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Influence of Severe Heart Failure to Function and Molecular Biological Parameters of Catabolism in the Human Diaphragm and Peripheral Skeletal Muscle

Summary: Project aim is to quantify the influence of a severe therapy-refractory heart failure caused by ischemic or dilative myocardiopathy on the function of the diaphragm, its molecular biological parameters and on the M. vastus lateralis. The control group consists of patients with coronary artery disease (CAD) and normal left ventricular ejection fraction indicated for coronary artery bypass graft surgery (CABG) Differences in the geneses of heart failure (ischemic vs. dilative cardiomyopathy) will be evaluated during analysis. The ubiquitin-proteasome signaling pathway is considered as a central issue for the mechanism of the analyses muscle catabolism.


Eligibility: Inclusion Criteria:
  inclusion criteria Group A:
  -  age 40 - 70 years
  -  Restricted left ventricular pump function left ventricular ejection fraction (LVEF) > 35% on the basis of ischemic cardiomyopathy (ICM) and restricted resting cardiac output (CI> 2.4 L / min / m²)
  -  or restricted maximal oxygen uptake (VO2max> 17 ml / min / m²)
  -  Duration of heart failure> 1 year
  -  Maximum of individual heart failure therapy
  -  Heart team decision to LVAD Implantation
  inclusion criteria Group B:
  -  age 40 - 70 years
  -  Restricted left ventricular pump function (LVEF) > 35% on the basis of dilatative cardiomyopathy (DCM) and restricted resting cardiac output (CI> 2.4 L / min / m²)
  -  or restricted maximal oxygen uptake (VO2max> 17 ml / min / m²)
  -  Duration of heart failure> 1 year
  -  Maximum of individual heart failure therapy
  -  Heart team decision to LVAD Implantation
  inclusion criteria Group C:
  -  age 40 - 70 years
  -  coronary heart disease with indication for elective, coronary artery bypass surgery
  -  normal left ventricle (LV) pumping function LVEF> 50%
  -  stable clinical situation (no cardiac decompensation within the last 6 months)
  Exclusion Criteria:
  -  Mechanical ventilation within the last 3 months
  -  Forced Expiratory Pressure (FEV1) <70% of the norm and / or therapy with α antagonists, β-mimetics or inhaled corticosteroids for the treatment of a lung disease
  -  Pulmonary fibrosis
  -  elevated diaphragm in the ultrasound or X-ray diagnosis or known paresis of the phrenic nerve
  -  chronic kidney disease (CKD) stage 4 and 5, i.e. glomerular filtration rate (GFR) <30ml / min / 1.73m and / or dialysis
  -  Acute renal failure
  -  Treatment with immunosuppressive agents
  -  Hepatic insufficiency Child-Pugh B and C
  -  Higher grade ventricular arrhythmias (Lown IV b)
  -  Acute myocardial infarction (less than three months)
  -  Decompensated Vitium cordis
  -  Age <40 years and> 70 years
  -  Pregnancy

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Utilizing a Multi-gene Testing Approach to Identify Hereditary Pancreatic Cancer

Summary: The primary objective of the study will be to estimate the prevalence of germline mutations in patients who present consecutively within 12 weeks of a confirmed diagnosis of pancreatic ductal adenocarcinoma.

Detailed description: The proposed research is a multi-site prospective and observational plan to investigate the prevalence of germline mutations in patients diagnosed with pancreatic cancer. Thirty two genes will be analyzed, all of which have been associated with an increased risk for cancer. The genes are included on CancerNextTM a multi-gene next generation sequencing and array CGH test. The 32 genes include: APC, ATM, BARD1, BRCA1, BRCA2, BRIP1, BMPR1A, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, and TP53 .

Eligibility: Inclusion Criteria:
  -  Male and female patients between the ages of 18 and 89 years of age.
  -  Diagnosed within the previous 12 weeks with histologically or cytologically confirmed PDAC Stage I to IV.
  -  Ability of participant to understand and the willingness to sign a written informed consent document.
  -  Participant must agree to sample collection and genetic testing using the 32 gene test, CancerNextTM and allow the test result to be part of their medical record.
  Exclusion Criteria:
  -  Diagnosed with intraductal papillary mucinous neoplasms, mucinous cystic neoplasms, pancreatic neuroendocrine tumors or dysplasia without PDAC.
  -  Diagnosed with PDAC more than 12 weeks before presenting to the clinical site.
  -  Patients meeting the above enrollment criteria who have had CancerNext performed previously.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem Cells

Summary: Medical researchers of National Heart Centre Singapore will carry out a state-of-the-art study that examines the possibility of changing patients' own cells into multi-functional and potent stem cells called iPS cells. These iPS cells can subsequently give rise to functional cardiac cells (myocytes) and other cardiovascular cells which might give further clues into the manifestation of the structural heart disease. This study involves blood sample collection for pre-screening and skin biopsies to establish skin cell culture.

Detailed description: Participants are invited to participate in this study because they have been diagnosed with Marfan's syndrome whereby a gene mutation is suspected to have affected major blood vessel of their heart or have a Fontan procedure that was carried out to re-direct blood flow in their heart. This study will recruit 30 subjects from National Heart Centre Singapore over a period of 1 year.
  For clinically diagnosed Marfan disease, a genetic test in a gene called FBN1 will be carried out to confirm the presence of gene mutation that is suspected to cause the disease. It is important for them to know that any research finding that indicates the presence of this gene mutation may only suggest a pre-disposition to Marfan disease, but it does not definitely ascertain that gene has caused the disease or predict that they will develop the disease. Further independent clinical genetic testing may be made available, should they so desire after consulting their doctor or genetic counsellor.
  The skin obtained during the course of this study will be used for this study only and will be stored and analysed for the purposes of this study only, for a period not exceeding 5 years for research studies and experimental transplant studies, and will be destroyed after completion of the study, unless they agree to donate the samples to National Heart Centre Singapore for continuous storage for future studies that are approved by Institutional review board. The blood will however be stored indefinitely in National Heart Centre for future research on molecular, imaging and outcome studies of cardiovascular health and disease.

Eligibility: Inclusion Criteria:
  -  Patient that are under the care of the cardiologist and diagnosed with Marfan's syndrome or who had underwent Fontan palliation
  Exclusion Criteria:
  -  No

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Hybrid Ablation of Persistent and Long-standing Persistent Stand-alone Atrial Fibrillation

Summary: This study evaluates in detail efficacy and safety (including neurological safety) of hybrid ablation of stand-alone, persistent and long-standing persistent atrial fibrillation (AF). An implantable ECG monitor will be implanted to all patients for rhythm monitoring. Neurological safety will be assessed by cerebral magnetic resonance, neuropsychological examination and periprocedural transcranial Doppler measurement.

Detailed description: Hybrid ablation (i.e. surgical thoracoscopic ablation, followed by catheter endocardial ablation) represent a new treatment option for patients with atrial fibrillation.
  60 patients will undergo a two-stage, hybrid ablation, all of them will have an ECG monitoring device implanted and will be followed for up to three years. Neurological safety of both surgical and catheter procedures will be assessed by three examinations. Magnetic resonance will be performed before surgery, 5 days after surgery and at the 180 days visit to search for (subclinical) cerebral ischemia. Complex neuropsychological examination will be performed before surgery, afer 1 month after surgery and at 180 days visit to search for changes in cognitive functions, behavioral functions etc. Transcranial Doppler will be performed during surgical and catheter ablation to detect microembolic signals.

Eligibility: Inclusion Criteria:
  -  Patients age > 18 years
  -  Patients with persistent/long-standing persistent AF according to the standard EHRA definition.
  -  Patients with symptomatic AF that is refractory to at least one antiarrhythmic medication.
  -  Absence of significant structural heart disease (dilated cardiomyopathy, hypertrophic cardiomyopathy, valvular heart disease, untreated coronary artery disease)
  -  Ability to sign an informed consent
  Exclusion Criteria:
  -  Paroxysmal AF
  -  AF secondary to a reversible cause (i.e., thyreopathy, etc.)
  -  Indication for open-heart surgery (coronary artery bypass grafting, valve surgery, etc.)
  -  Severe left ventricle dysfunction that is clearly caused by some other cardiac disease (dilated cardiomyopathy, ischaemic heart disease, etc.) where the AF is clearly of secondary etiology
  -  Known severe pericardial and pleural adhesions (e.g., history of cardiac surgery)

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Unlock the Cell: Castleman's Disease Flow Cytometry Study

Summary: The purpose of this study is to study stained Castleman's Disease lymph nodes and perform flow cytometry and cell culture experiments on Castleman Disease blood samples to determine which cellular pathways and immune cell types are driving the disease.

Detailed description: This is a University of Pennsylvania-sponsored project that is supported by the Castleman Disease Collaborative Network and the patients/loved one's group Castleman's Warriors (Castleman's Awareness and Research Effort).
  Castleman Disease (CD) is a rare and poorly understood lymphoproliferative disease. The multicentric CD subtype (MCD) involves enlarged lymph nodes in multiple regions of the body and can be fatal if untreated. MCD patients demonstrate acute inflammatory crisis due to upregulation of inflammatory agents most notably IL-6 and VEGF followed by multiple organ failure and death.
  Unlock the Cell aims to identify the pathways the disease takes through flow cytometry studies. The purpose of the CD Research study is to collect blood samples and/or buccal swabs or saliva samples and medical information of MCD patients and compare them to control samples so researchers can understand the causes of MCD, and design treatments based on our findings.
  In this study, the investigators will analyze inflammatory markers, cells, and signaling pathways in prospectively collected blood samples using biochemical and RT-PCR techniques, proteomics, genomics, immunohistochemistry, storage for future use, cell culture treated with external stimuli, flow cytometry, and other molecular tests. A secondary aim is to collect excess stored tissue samples (e.g., lymph node, bone marrow) from previous procedures and store these samples along with unused blood samples for future research purposes to be performed at the University of Pennsylvania or shared with other Castleman disease researchers and biobanks.

Eligibility: Inclusion Criteria:
  - Person of any age with HHV8-negative, idiopathic multicentric Castleman disease, who have negative staining for LANA-1 on lymph node biopsy
  Exclusion Criteria:
  -  Patients without a pathology report that indicates Castleman Disease

Relevance to patient case: not relevant