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

Clinical trial: Furcation Therapy With Enamel Matrix Derivative

Summary: Objective: To clinically evaluate mandibular furcation treated with Beta tricalcium phosphate/hydroxyapatite (βTCP/HA) isolated or combined with enamel matrix derivative (EMD + βTCP/HA) and EMD alone.
  Material and Methods: 39 patients, presenting at least one mandibular class II furcation defect, probing pocket depth (PPD) ≥ 4 mm and bleeding on probing, were included. The defects were assigned to the βTCP/HA group 1 (n = 13); open-flap debridement (OFD) + βTCP/HA filling; βTCP/HA + EMD group 2 (n = 13); OFD + βTCP/HA + EMD filling; and EMD group 3 (n = 13) OFD + EMD filling. Plaque (PI) and gingival index (GI), PPD, relative gingival margin position (RGMP), vertical and horizontal attachment level (RVCAL and RHCAL), and furcation diagnosis were evaluated at baseline, 6 and 12 months.

Detailed description: Although enamel matrix derivative (EMD) has been used to promote periodontal regeneration, little is known of its effect on the microbiome. Therefore, this investigation aimed to identify the changes in periodontal microbiome following treatment with EMD using a deep-sequencing approach. Thirty-nine patients having mandibular class II buccal furcation defects were randomized to beta-tricalcium-phosphate/hydroxyapatite graft (BONE group), EMD+BONE or EMD alone. Plaque was collected from furcation defects at baseline, 3 and 6 months post-treatment. Bacterial DNA was analyzed using terminal restriction fragment length polymorphism (t-RFLP) and 16S pyrotag sequencing. 169,000 classifiable sequences were compared to HOMD using the QIIME and PhyloToAST pipelines. Statistical comparisons were made using parametric tests. At baseline, a total of 422 species were identified from the 39 defects, belonging to Fusobacterium, Pseudomonas, Streptococcus, Filifactor and Parvimonas. All three regenerative procedures predictably altered the disease-associated microbiome, with a restitution of health-compatible species. However, EMD and BONE+EMD groups demonstrated more long-term reductions in higher number of species than in BONE group (p<0.05), especially disease-associated species e.g. Selenomonas noxia, F.alocis, and Fusobacterium. EMD may promote periodontal regeneration by predictably altering a dysbiotic subgingival microbiome, decreasing pathogen richness and increasing commensal abundance.

Eligibility: Inclusion Criteria:
  -  Untreated ChronicPeriodontitis
  Exclusion Criteria:
  -  Diabetes Pregnancy Current Smoking

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

Clinical trial: Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea

Summary: The aim of this randomized controlled study is to investigate the effect of continues positive airway pressure (CPAP) treatment in patients with dilated cardiomyopathy (DCM) and concomitant obstructive sleep apnea (OSA). The primary endpoint is left ventricular function measured by magnetic resonance (improvement of at least 4%) after six months treatment with CPAP.
  The secondary endpoints include diastolic dysfunction, cardiovascular biomarkers and quality of life.

Detailed description: Sleep apnea, either obstructive (OSA) and central (CSA), occurs in more than half of all patients with heart failure (HF), and is associated with poor prognosis in these individuals.
  Dilated cardiomyopathy (DCM) is the most common type of cardiomyopathy and is defined as the presence of the left ventricle dilatation and left ventricular systolic dysfunction without concurrent valvular or coronary artery disease. Its etiology is unclear, but a genetic component is present in at least 25% of cases. In younger individuals, the etiology is more heterogeneous, where a rare type of cardiomyopathy may occur in women in connection with pregnancy, s.c. peripartum cardiomyopathy. Other underlying causes include alcohol, drugs, pharmaceuticals, endocrine disorders, systemic diseases and general muscle. These factors account for approximately half the cases of DCM in younger and other half designated as idiopathic (IDCM).
  The relationship between cardiomyopathies and OSA is insufficiently studied so far. In a smaller population of 20 individuals with DCM, sleep apnea (OSA or CSA) had 16, ie 80% of patients. The first-line treatment of OSA is continues positive pressure breathing mask (CPAP) during sleep in patients with daytime sleepiness. Effect of CPAP therapy in patients with DCM and OSA is completely unknown, because many of them do not report daytime sleepiness. The fact that patients with heart failure and reduced pumping function usually have symptoms of including fatigue, it becomes difficult to distinguish what is fatigue due to heart failure and what is related to sleep apnea. Interpretation of the Epworth Sleepiness Scale (ESS) is thus difficult and possibly unsure why all patients with DCM and OSA will be randomized to treatment with CPAP.

Eligibility: Inclusion Criteria:
  Patients with newly diagnosed or previously known DCM, treated and followed at cardiology outpatients clinic, stable in their symptoms and functional class at least 2 weeks after the last medicine change.
  -  Consent for the study.
  -  EF ≤ 45%.
  -  OSA diagnosis (Apnea-Hypopnea index> = 15 in the sleep recording below).
  Exclusion Criteria:
  -  Patients already treated with Continues Positive Airway Pressure.
  -  Patients with claustrophobia

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

Clinical trial: Misoprostol Before Elective Caesarean Section for Decreasing the Neonatal Respiratory Morbidity

Summary: Neonatal respiratory distress may occur in either term or preterm newborns with a higher relative risk in preterm, and whether born vaginally or through caesarean section, but in a higher percentage after elective caesarean section whose rate is rising.
  Prostaglandins may be given about one hour before an elective caesarean section after excluding the presence of contraindication to their use to decrease the neonatal respiratory diseases and thus, the number of children who suffered from bronchopulmonary dysplasia that occurs frequently in children who had previously TTN will diminish.


Eligibility: Inclusion Criteria:
  -  Age: 18 years or more.
  -  Term singleton pregnancy (38 - 38+6 weeks gestation).
  -  Planned for elective transverse lower segment caesarean section with an indication.
  Exclusion Criteria:
  -  Women with history of significant cardiac disease, eclampsia, pre eclampsia, epilepsy, severe asthma, severe allergic condition, vascular disease, renal or hepatic disease.
  -  Women with contraindication to prostaglandins as Glucoma or known hypersensitivity to prostaglandins or specifically for misoprostol.
  -  Psychological problem or mental disease that renders the patient not able to understand the nature, scope, and sequences of the study.
  -  Pregnancies with known foetal malformation/s or chromosomal aberration.

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

Clinical trial: Combined Spinal- Epidural Anesthesia in Patients With Dilated Cardiomyopathy

Summary: This study was conducted on 24 patients who have ischemic dilated cardiomyopathy, underwent non cardiac surgery in the lower half of the body under the effect of combined spinal epidural anesthesia at Assiut university hospital. Intraoperative Hemodynamic monitoring including invasive blood pressure, heart rate, and CVP was established, in addition to pre and postoperative, 12 lead ECG, echocardiography, and venous sampling for Brain natriuretic peptide measurement were done .
  This study tried to assess the safety of this anesthetic technique on such group of cardiac patients along over the hospital stay period and up to 6 months postoperatively, in addition to the predictability of Brain natriuretic peptide as a cardiac biomarker regarding to the major adverse cardiac events and cardiac mortality for these group of patients .

Detailed description: Dilated cardiomyopathy (DCM) is characterized by ventricular dilatation and impaired systolic cardiac function. Anesthetic management, of patients with cardiomyopathy with reduced systolic function, is challenging and may be associated with high mortality.
  Objective: The purpose of this study was to evaluate the hemodynamic effects of combined spinal epidural anesthesia (CSEA) in patients with dilated cardiomyopathy, underwent vascular surgery in the lower half of the body, in addition to assess the safety of this anesthetic technique in the early postoperative period.
  Method: After approval by local research ethics committee of the Faculty of Medicine, and informed written consent obtained from all patients, 24 patients having dilated cardiomyopathy, subjected to vascular surgery in the lower half of the body under CSEA. The effects of CSEA on hemodynamics; IBP, HR and CVP (measured at base line and then every 10 min), in addition to cardiac complications during the hospital stay period were studied.

Eligibility: Inclusion Criteria:
  -  24 patients Cardiomyopathy DCM underwent infra-inguinal vascular surgery under the effect of combined spinal epidural technique were included in a prospective trial single center observational study.
  Exclusion Criteria:
  -  Patients with significant fluid and electrolyte imbalance, major arrhythmias or heart failure or unstable angina, systolic blood pressure at rest < 100 mmHg, heart rate < 50, serum creatinine >2.0 mg /dl, and patients who required emergency surgery were excluded from the study.

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

Clinical trial: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Obeservatory for PAtients With Laminopathies and Emerinopathies)

Summary: Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes. Among them, disorders affecting skeletal and/or cardiac muscles are the most frequent clinical manifestations, with cardiac disease being a major cause of death. Remarkable progress has been made in the description of the clinical and genetic spectrum of these diseases since the 1990's. Until now, precise phenotype/genotype relations remain elusive. As for several other neuromuscular disorders, apart from symptomatic treatments, there is currently no specific treatment to prevent or slow down the progression of the disease. The OPALE registry is a multicentre web-based registry dedicated to laminopathy and emerinopathy French patients. OPALE has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic LMNA and/or EMD gene mutation.
  The OPALE objectives are to provide a tool allowing detailed capture of patient genetic, neurological, cardiological, endocrinological and respiratory assessments, in order to allow i) precise disease natural history, ii) evaluation of different disease complication frequency and iii) identification of prognosis factors.


Eligibility: Inclusion Criteria:
  -  Presence of a proven pathogenic LMNA and/or EMD gene mutation
  -  Regular followup in France.
  -  Signed informed consent
  Exclusion Criteria:
  -Signed informed refusal

Relevance to patient case: possibly relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes

Summary: Genetic lipodystrophy syndromes are extremely rare, orphan diseases with overall estimated prevalence of less than 2,000 in the United States. These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes, dyslipidemia and hepatic steatosis. Due to these metabolic problems, atherosclerotic vascular disease, recurrent episodes of acute pancreatitis, cirrhosis and other morbidities complicate the lives of these patients.
  In the last few years, several genes for CGL (AGPAT2, BSCL2, CAV1 and PTRF); FPL (LMNA, PPARG, AKT2, CIDEC, LIPE, PLIN1, PCYT1A and ADRA2A); MAD (LMNA and ZMPSTE24); APS (LMNA); autoinflammatory (PSMB8); NPS (FBN1, CAV1); SHORT syndrome (PIK3R1); and MDP syndrome (POLD1) have been identified. However, there is paucity of information about the natural history of these rare syndromes, especially genotype-specific causes of morbidity and mortality.
  To overcome the problems outlined above, this multicenter, collaborative, prospective, observational natural history cohort study will be conducted on approximately 500 patients with genetic lipodystrophy syndromes. Patients will be assessed on a yearly basis for approximately 4 years to collect robust clinical, metabolic, morbidity and mortality data. Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study. Clinical data such as vitals, laboratory results and anthropometric measurements will also be collected from patients' medical records if available.


Eligibility: Inclusion Criteria:
  -  Clinical diagnosis of genetic lipodystrophy Supportive data: 1) Presence of biallelic known disease-causing variants in the genes for autosomal recessive lipodystrophy syndromes; 2) Presence of a known (or de novo loss of function) disease-causing variant in the genes for autosomal dominant lipodystrophy syndromes.
  Exclusion Criteria:
  -  HIV-infected patients with lipodystrophy
  -  Drug-induced lipodystrophy

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

Clinical trial: Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy

Summary: A phase 1 randomized-controlled study to determine the procedural feasibility and safety and preliminary efficacy of intracoronary infusion of cardiosphere-derived cells (CDCs) in patients with dilated cardiomyopathy.

Detailed description: This trial consists of 2 studies. Seven consecutive patients will be enrolled to a phase 1a study to verify the procedural feasibility and safety, followed by a phase 1b study to randomly assign 24 patients in a 1:1 ratio to the CDC infusion group and the control arm.

Eligibility: Inclusion Criteria:
  -  Patients diagnosed as dilated cardiomyopathy.
  -  Patients aged under 18 years old.
  -  Cardiac ejection fraction < 40%.
  Exclusion Criteria:
  -  Contradiction to cardiac magnetic resonance imaging.
  -  Cardiogenic shock.
  -  A patient with unstoppable extracorporeal circulation.
  -  A patient with lethal, uncontrollable arrhythmia.
  -  A patient with a complication of coronary artery disease.
  -  A patient with a complication of brain dysfunction due to circulatory failure.
  -  A patient with malignant neoplasm.
  -  A patient with a complication of a serious neurologic disorder.
  -  A patient with high-grade pulmonary embolism or pulmonary hypertension.
  -  A patient with high-grade renal failure.
  -  A patient with multiple organ failure.
  -  Active infection (including endocarditis).
  -  Sepsis.
  -  Active hemorrhagic disease (e.g. gastrointestinal bleeding, injury).

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

Clinical trial: Plasma Concentrations of Calcium, Phosphate, FGF23, Klotho, 25 (OH) D3 and 1,25 (OH) 2D3 From Patients Who Wants to Have Children

Summary: 1,25-dihydroxy-vitamin D3 (1,25 (OH) 2D3) or calcitriol regulates plasma calcium and phosphate concentrations in the blood by stimulating intestinal absorption and renal reabsorption of calcium and phosphate. 1.25 (OH) 2D3 is formed by the renal 1α25OH vitamin D-hydroxylase (Cyp27b1) and inactivated by the renal 25-hydroxy vitamin D-24-hydroxylase (Cyp24). Unpublished studies in mice revealed an inhibitory effect of 1.25 (OH) 2D3 on embryo implanation. An excess of 1.25 (OH) 2D3 could therefore lead to female infertility. The excess of 1.25 (OH) 2D3 could result from uncritical vitamin D intake with insufficient negative feedback by FGF23 / Klotho. The aim of the study is to identify patients with an excess of 1.25 (OH) 2D3.

Detailed description: The physiological institute of the University Tübinge has succeeded in preventing vascular calcification in Klotho-deficient mice by inhibiting osteogenic signal transduction. The animals reach an almost normal life span despite increased 1.25 (OH) 2D3, Ca2 + and phosphate plasma concentrations. The male animals are again fertilized, but not the female animals. However, if the plasma concentrations of 1.25 (OH) 2D3 are normalized by administration of a vitamin-poor diet, the female animals are fertilized within two weeks. Further investigations revealed an inhibitory effect of 1.25 (OH) 2D3 on the implantation of the embryo. In the meantime the 1,25 (OH) 2D3-dependent signal transduction could be revealed, which prevents the implantation of the embryo. The vitamin D receptor and the elements of signal transduction are also expressed in the human endometrium. It is therefore possible that increased 1.25 (OH) 2D3 plasma concentrations also prevent embryo implantation in humans.

Eligibility: Inclusion Criteria:
  -
  Exclusion Criteria:
  -  Known systemic diseases, e.g. Autoimmune disease, scleroderma, malignant disease

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

Clinical trial: Multicenter Exploratory Study of Accelerometry in Dilated Cardiomyopathy

Summary: Study evaluates the relationships between daily physical activity levels (PAL) and functional capacity (VO2peak) in patients with dilated cardiomyopathy (DCM)

Detailed description: The study will evaluate the daily physical activity with the use of activity monitor, heart rate monitor and event monitor in patients with dilated cardiomyopathy (DCM). These wearables track the heart rate, heart rhythm, tracks activity and step count. The VO2 peak will be measured via the exercise test.

Eligibility: Inclusion Criteria:
  1. Males and females, 18-75 years of age
  2. Diagnosis of dilated cardiomyopathy
  -  (Unexplained left ventricular enlargement (left ventricular end diastolic dimension (LVEDD) >95th percentile for gender and height by echo or MRI)
  -  (Left ventricular ejection fraction (LVEF) less than 50%)
  3. CPET within 14 days prior to baseline visit with no intervening change in therapy
  4. Echocardiogram or cardiac MRI within 1 year prior to baseline
  5. Able to walk >100ft without limitation
  6. More than 30 minutes of exercise per week for at least 3 months prior to study enrollment, and plan to continue exercising for the next two weeks (duration of study).
  7. Ability to provide informed consent and willingness to complete the study (including weekly phone follow-up)
  Exclusion Criteria:
  1. Heart failure hospitalization within four weeks prior to enrollment
  2. Non-cardiac limitation of activity
  4. Prior exercise-induced syncope or exercise-induced sudden death 5. Primary exercise mode is swimming or stationary biking 6. Participation in competitive or high intensity exercise against medical advice 7. Implantable Cardiverter Defibrillator (ICD) placement in the 2 months prior to enrollment 8. Plan for surgery, device implantation, or significant change in clinical management during the two weeks of the study

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

Clinical trial: Prediction of Sudden Cardiac Death in Dilated Cardiomyopathy

Summary: PREDICT-DCM Trial is a multi-centre, prospective observational trial including patients with DCM undergoing cardiac magnetic resonance imaging (CMR) prior to ICD or event recorder implantation.

Detailed description: Prophylactic ICD implantation was recently found to be non-beneficial over usual clinical care in non-ischemic systolic heart failure (LVEF≤35%) and 60-70% percent of SCD cases even occur in individuals with LEVF>35%. A growing evidence, that emphasizes the urgent need to improve the prediction of sudden cardiac death (SCD) in dilated cardiomyopathy (DCM).
  CMR provides unique information on myocardial mechanics, fibrotic burden, inflammation and microvascular dysfunction, thereby allowing to quantify key substrates for myocardial arrhythmogenic potential.
  PREDICT-DCM Trial is a multi-centre, prospective observational trial including patients with DCM undergoing cardiac magnetic resonance imaging (CMR) prior to ICD or event recorder implantation.
  Acquired candidate predictors are among others:
  -  Global and regional T1/T2
  -  T1/T2 inhomogeneity
  -  Extracellular volume fraction
  -  Microvascular dysfunction
  -  LA function and filling fraction
  -  Global and regional circumferential, radial or longitudinal myocardial strain
  -  Biomarkers

Eligibility: Inclusion Criteria:
  -  Dilated Cardiomyopathy
  -  ICD Indication
  -  age ≥ 18 years
  -  signed informed consent
  Exclusion Criteria:
  -  severe claustrophobia
  -  rest dyspnea
  -  tachycardia or severe arrhythmia
  -  intolerance to gadolinium-based contrast agent

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

Clinical trial: Pupillary Dilation Reflex Assessment for Intraoperative Analgesic Titration.

Summary: In this double blinded randomized controlled study, the pupillary dilation reflex is used for as a nociceptive indicator for opioid administration during elective surgery under general anesthesia.

Detailed description: An infrared camera of the video pupillometer measures the pupillary dilation reflex (PDR) in response of a nociceptive stimulus. This autonomic reflex, parasympathetic mediated in sedated patients, can be generated by various pain stimuli (built in standardized protocol, surgical incision, …) The PDR is a robust reflex, even in patients under general anesthesia, and provides a potential evaluation of the autonomous circuit within the nociceptive evaluation based on pupil dilation upon A-delta and C fibers in both electrical or mechanic stimulation. This double blind randomized controlled trial involving American Society of Anesthesiologists (ASA) classification I-III patients undergoing elective surgery under general anesthesia are recruited. Enrolled patients are randomized in four groups: (1) remifentanil administration depending on PDR results, (2) remifentanil administration depending on decision attending anesthesiologist, (3) sufentanil administration depending on PDR results, (4) sufentanil administration depending on decision attending anesthesiologist.

Eligibility: Inclusion Criteria:
  -  > 18 jaar
  -  Elective abdominal or gynaecological operation
  -  ASA (American Society of Anesthesiologists classification): I - II - III
  Exclusion Criteria:
  -  History of invasive ophthalmological surgery
  -  Known bilateral eye disease
  -  Known optical of oculomotor nerve deficit
  -  Active psychiatrical disease
  -  Proven active pheochromocytoma
  -  Opioid usage > 7 days preoperative
  -  Ongoing oncological treatment with chemotherapeutic agents
  -  Usage of A-1 adrenergic of beta-blocking agents
  -  Preoperative usage of benzodiazepines
  -  Topical atropine or phenylephrine (eye droplets)
  -  Planned perioperative usage of dopamine antagonists

Relevance to patient case: not relevant