Kornimate/medical-research-clean huggingface dataset:
whole exome sequencing in bicuspid aortic valve patients

Conditions: Bicuspid Aortic Valve

Summary: bicuspid aortic valve (bav), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. it is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and dissection. long considered an accident of development, the discovery of mutations in the notch1 gene in 2 families alternating bav and aortic dystrophy suggests the existence of a genetic predisposition and a common genetic origin for these two pathologies. data on the genetic basis of the bav are still limited, but the existence of a large phenotypic diversity suggests the involvement of other genes. the establishment of large collections of dna will allow great advances in this field. the purpose of this project is to confirm the existence of a genetic determinism at the origin of the bav with or without dystrophy of non syndromic ascending aorta, identifying genetic defects associated with the presence of a bav in a series of candidate genes.


Eligibility criteria:
inclusion criteria: * bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography * with or without an aneurysm of the ascending thoracic aorta nonsyndromic exclusion criteria: * aortic syndromic pathology * antecedent of acute articular rhumatism
retroperitoneal packing or angioembolization for hemorrhage control of pelvic fractures

Conditions: Shock, Hemorrhagic; Fractures, Bone; Multiple Trauma

Summary: this study is designed to answer whether minimal invasive vessel clotting (angioembolization) or open surgery (retroperitoneal packing) is more effective for pelvic fractures with massive bleeding. patients admitted at daytime (7am-5pm) are treated with angioembolization while patients admitted at nighttime (5pm to 7am) are treated with open surgery.

in patients with pelvic fracture uncontrollable bleeding is the major cause of death within the first 24h after injury. early hemorrhage control is therefore vital for successful treatment. nowadays, recommended techniques for hemorrhage control in pelvic fractures are retroperitoneal pelvic packing and angioembolization, dependent upon the available technical staff and resources and the condition of the patient. retroperitoneal pelvic packing, on the one hand, is a relatively simple method in controlling pelvic hemorrhage even with limited resources. since 89% of pelvic fracture hemorrhage originates from venous bleeding, fracture stabilization and compressive hemostasis by packing is a reasonable approach. angioembolization, on the other hand, has great high effectiveness with regard to bleeding control, but requires an angiography suite and technical staff. since hemostasis of retroperitoneal venous bleeding often can be achieved by external pelvic fixation, angioembolization is required for the 11% arterial bleedings which are hard to control by packing. even though many authors see both methods as complements, time is crucial in the multitrauma setting and the severely injured patient does not tolerate multiple interventions well. until now good predictors for treatment choice are unavailable, and management of hemodynamically unstable pelvic fractures remains a matter of debate. this study was designed to answer following questions: * is retroperitoneal pelvic packing or angiography superior with regard to in-hospital mortality, complications, required secondary procedures, or post-intervention blood loss? * which of these methods is the more rapid intervention in the acute setting?

Eligibility criteria:
inclusion criteria: * multitrauma defined as injury severity score (iss) \> 17 * dislocated pelvic fracture type b or c according to tile\[10\] on emergency department pelvic radiograph * hemodynamic instability defined as systolic blood pressure (sbp) \<90 mmhg after administration of 4 units of packed red blood cells (prbc). exclusion criteria: * monotrauma, or iss ≤ 17 * age \> 65 years * age \< 18 years
a study of stereotactic body radiotherapy (sbrt) and surgical stabilization for people with cancer that has spread to the bone

Conditions: Metastatic Cancer

Summary: the purpose of this study is to test the safety of stereotactic body radiation therapy (sbrt) followed by surgical stabilization within 1 week. all participants will have metastatic cancer in the bone (bone metastases), and they will be at risk of pathologic fracture (broken bone caused by a disease). another purpose of this study is to see if the treatment approach of sbrt followed by surgical stabilization within 1 week prevents cancer from returning to the bone.


Eligibility criteria:
inclusion criteria: * diagnosis of metastatic cancer with radiologic evidence of skeletal metastases * treatment target involving humerus, radius, pelvis, sacrum, femur, or tibial diaphysis * age at enrollment ≥18 years * life expectancy \>3 months * ability to tolerate radiation simulation and treatment with immobilization of involved anatomic site * surgical candidate, as determined by the treatment team * ability to obtain informed consent from patient or legally authorized representative in the setting of patient with impaired decision-making capacity. * must agree to practice an effective contraceptive method (for those with reproductive potential) exclusion criteria: * prior radiotherapy to the treatment site * prior surgery involving the treatment site * tumor volume or distribution precluding effective sbrt * expected skin dose at the operative site ≥9 gy * imminently impending fracture requiring immediate stabilization surgery * involvement of proximal tibia * autoimmune connective tissue disorder * administration of radiosensitizing medication 3 days before, during, and 3 days after rt * active infection * absolute neutrophil count \<1.0 * pregnancy

Keywords: skeletal metastases stereotactic body radiotherapy (sbrt) surgical stabilization bone cancer 21-216
rcvs: the rational approach to diagnosis and treatment

Conditions: Reversible Cerebral Vasoconstriction Syndrome

Summary: this is a randomized clinical trial of short-acting nimodipine versus twice daily extended release verapamil to treat patients presenting with reversible cerebral vasoconstriction syndrome (rcvs).

patients greater than 18 years of age presenting with clinical signs and symptoms consistent with rcvs (see inclusion criteria) will be enrolled. neuroimaging (ct, magnetic resonance (mr), or 4 vessel angiogram) will be obtained along with a baseline transcranial doppler ultrasound (tcd). they will subsequently be randomized to receive nimodipine (every 4 hours) or extended release verapamil (twice daily). mean cerebral blood flow velocities will be followed for reduction or normalization on daily tcd and medication dosing adjusted appropriately. patients will be followed 90 days post-discharge at which time they will undergo repeat neuroimaging to confirm resolution of vascular abnormalities and repeat evaluation. to determine effectiveness, the investigators will evaluate both short-term (surrogate) in-hospital outcomes and long-term outcomes. reduction of tcd velocities and headache severity will serve as our short-term surrogate outcomes; however, need for additional medications, blood pressure, new/recurrent stroke/intracranial hemorrhage (ich) will also be evaluated along with modified rankin score (mrs) on discharge, length of stay, and discharge disposition. at 90 days, the investigators will also assess headache control along with mrs.. adverse events and their relation to the treatment arms will be assessed, and adherence to the medications will be evaluated.

Eligibility criteria:
patients 18 years of age or greater meeting the following inclusion criteria adapted from singhal and colleagues 2 will be included: 1. presentation consistent with rcvs : * acute thunderclap/severe headache and \*\*supporting clinical features should prompt increased clinical suspicion (eg., potential medication trigger, recent pregnancy, migraine history)\*\* * evidence of beading/elevated velocities on imaging (transcranial doppler (tcd), angiogram, computer tomography angiogram (cta), mra) and * reversibility (by 90 days)-will not be required for inclusion but will be retrospectively adjudicated participants will be excluded from the study if they are: * unable to consent and no family present to consent, or * have presence of aneurysmal, traumatic, or mesencephalic subarachnoid hemorrhage (sah), or * have presence of other supported diagnosis (eg., vasculitis- inflammatory lumbar puncture) or * are currently pregnant or * the use of nimodipine or verapamil is contraindicated for any reason (eg., allergy, breast feeding) or * have limited tcd sonographic window * stroke or ich/sah on presentation will not be a contraindication to inclusion in the trial \*\*

Keywords: stroke rcvs
electroconvulsive therapy (ect) for elderly patients with major depression

Conditions: Major Depression

Summary: ect (electroconvulsive therapy) is mostly given to patients between the age of 60 - 85 years. there is limited evidence on the efficacy and cognitive side-effects of right unilateral (ru) and bifrontal (bf) electrode positions, the placements that are considered safe for the elderly. as far as the investigators know no randomized controlled trials (rcts) have yet been published describing this population treated with bf or ru ect. non-demented depressed patients will be randomized to either method (n = 2x36). symptom intensity, global cognitive function and biomarkers will be related to 20 healthy comparators. testing, evaluation of depression and blood-tests are done before ect-treatment, after a series of 6-16 ect and 3 months after terminated ect-treatment.

patients are assessed with mini mental status examination. postictal reorientation time is measured. there is also a weekly rating of depression depth during the series. after the 6th ect; mini mental status examination for a subgroup of patients; extensive blood-test samples are taken on the day of the 6th ect. some of the patients receive continuation-ect once monthly after the series. in these months patients receive treatment as usual (naturalistic observation).

Eligibility criteria:
inclusion criteria: * major depression, either unipolar or bipolar. * competent to give informed consent. * passing a thorough physical examination exclusion criteria: * previous ect non - response * ect given during last 6 months * ongoing substance abuse * rapid cycling bipolar or schizoaffective disorder * parkinsons disease * cognitive impairment (mmse \< 24/30)
evaluation of thyroid function in patients with chronic kidney disease

Conditions: Chronic Kidney Disease; Thyroid Dysfunction

Summary: a higher prevalence of thyroid disease has been associated with chronic kidney disease (ckd), and subclinical hypothyroidism seems to be the most common dysfunction. the aim is to evaluate thyroid function and autoimmunity in patients with ckd stages 3, 4 and 5. cross-sectional study to be carried out on patients with stages 3 and 4 in a nephrology outpatient clinic. thyroid function is evaluated by measuring thyroid stimulating hormone (tsh), free thyroxine, free triiodothyronine and antithyroperoxidase antibodies (tpoab) levels.

cross-sectional study to be carried out on patients with stages 3, 4 and 5 in a nephrology outpatient clinic. thyroid function is evaluated by measuring thyroid stimulating hormone (tsh), free thyroxine, free triiodothyronine and antithyroperoxidase antibodies (tpoab) levels. free thyroxine (ft4) will be measured by liquid chromatography tandem mass spectrometry and electrochemiluminescence immunoassay in order to compare methods in this population. the glomerular filtration rate was estimated (egfr) by the chronic kidney disease epidemiology collaboration formula (ckd-epi), and the ckd stages were defined according to the kidney disease improving global outcomes directives (kdigo).

Eligibility criteria:
inclusion criteria:patients over 18 years old with ckd stages 3 and 4 were included in the study. - exclusion criteria: 1) acute systemic inflammatory disease; 2) pituitary disease in the past or present; 3) regular treatment with amiodarone, lithium, interferon, immunosuppressive drugs and glucocorticoids; 4) previously diagnosed hypothyroidism and undergoing levothyroxine replacement. -
social cognition and interaction training for improving social functioning in people with schizophrenia

Conditions: Schizophrenia

Summary: this study will determine the effectiveness of social cognition and interaction training, a manual-based group therapy program, in helping people with schizophrenia improve their social cognition and social functioning.

schizophrenia is a serious mental condition that affects approximately 1.1% of adults in the united states. people with schizophrenia experience reality perception impairments, which most commonly manifest as hallucinations, extreme paranoia, social withdrawal, and disordered thinking. deficits in social functioning are a core feature of schizophrenia. in an effort to improve social functioning, there has been growing interest in identifying factors that underlie psychosocial impairments. one such identified factor has been neurocognition, but treatments that target solely cognitive processes do not always help overall social functioning. social cognition and interaction training (scit), a group-based treatment that aims to improve both processing social information and functioning, may be an effective treatment for enhancing the social skills of people with schizophrenia. this study will compare the effectiveness of scit versus treatment as usual (tau) in helping people with schizophrenia improve their social cognition and social functioning. participation in this single-blind study will last 11 months. all potential participants will undergo initial screening, involving the completion of a few brief tasks testing social functioning. eligible participants will then be randomly assigned to receive scit plus tau or tau alone. participants assigned to receive scit will attend twenty 1-hour weekly group sessions over 5 months. during these sessions, participants will learn ways to manage emotions, work through problems, and integrate into social situations. participants assigned to tau alone will meet with their case managers and healthcare provider on an as-needed basis. all participants will undergo assessments of social cognition, social functioning, and psychotic symptoms prior to treatment, immediately post-treatment, and 6 months after treatment. each assessment will last 3 hours and will include interviews, questionnaires, and a variety of tasks testing social skills. researchers will also contact a family member or significant other about the participant's social functioning at the same three assessment times noted above.

Eligibility criteria:
inclusion criteria: * meets dsm-iv criteria for schizophrenia or schizoaffective disorder, based on the structured interview of dsm-iv patient version (scid-p) exclusion criteria: * meets current criteria for substance dependence, based on the scid-p * meets criteria for metal retardation (e.g., has an iq of less than 80) * history of brain injuries * difficulties interacting with others, based on ratings on items from the social functioning scale that tap interactional skills

Keywords: social cognition group therapy psychosocial intervention
qp excels: multipole pacing (mpp) sub-study

Conditions: Heart Failure

Summary: the objective of this multipole pacing (mpp) sub-study of the qp excels study is to demonstrate that the mpp feature is effective by converting a percentage of cardiac resynchronization therapy (crt) non-responders to responders. the mpp sub-study is a single-arm, multi-center, prospective trial within the ongoing qp excels study (nct02290028).


Eligibility criteria:
inclusion criteria: * currently enrolled in the ongoing qp excels study * successfully implanted with a biotronik ilivia 7 hf-t qp family crt-d system, or future-marketed crt-d system with the mpp feature. successful implantation is defined as having at least two lv pacing vectors with a measured pacing threshold of ≤ 5.0 v @ any pulse width (allowing for a minimum 2.5 v safety margin) without phrenic nerve stimulation at the final programmed pacing output at the time of enrollment into the mpp sub-study. * crt responder assessment classification as "worsened" or "unchanged" * standard continuous biventricular (biv) pacing from implant until the 6-month qp excels follow-up visit. (implant to 3-month qp excels follow-up who qualify due to a heart failure (hf) hospitalization event) * able to understand the nature of the sub-study and give informed consent * available for an additional follow-up visit specific to the mpp sub-study at the investigational site * no evidence of non-compliance to their ongoing commitment in the qp excels study exclusion criteria: * have a life expectancy of less than 6 months * expected to receive heart transplantation or ventricular assist device within 6 months * chronic atrial fibrillation * presence of another life-threatening, underlying illness separate from their cardiac disorder * received mpp pacing prior to enrolment into the mpp sub-study
immunogenicity and safety of varicella vaccine, live in healthy children aged 12~15 months in the philippines

Conditions: Varicella

Summary: this is a phase ⅲ, randomized, double-blind, active-controlled study to assess the immunogenicity and safety of the varicella vaccine,live (hereinafter referred to as "varicella vaccine")manufactured by sinovac (dalian) vaccine technology co., ltd.(hereinafter referred to as "sinovac").

a total of 642 healthy participants aged 12\~15 months will be enrolled. all participants will be randomized at a 1:1 ratio to receive a single dose of varicella vaccine either manufactured by sinovac (group a) or merck sharp \& dohme (msd, group b).

Eligibility criteria:
inclusion criteria: * healthy children aged 12\~15 months; * participants' legal guardians are able to understand and sign the informed consent voluntarily; * participants are able to comply with the study procedures based on the assessment of the investigator; * participants should provide verifiable identification, to be contacted, and to contact the investigator during the study period. exclusion criteria: * prior vaccination with any varicella containing vaccines; * prior history of vzv infection; * known allergy to vaccines or vaccine ingredients, or serious adverse reactions to vaccines, such as urticaria, dyspnea, angioneurotic edema; * autoimmune diseases (including but not limited to systemic lupus erythematosus, rheumatoid arthritis, etc.) or immunodeficiency/immunosuppression (such as hiv infection, organ transplantation), asplenia; * receipt of blood products or immunoglobulins within the past 3 months before enrollment in this study, or scheduled to receive these treatments during the study period; * receipt of other investigational vaccines within 30 days prior to vaccination in this study; * receipt of attenuated live vaccines within 28 days prior to vaccination in this study; * receipt of inactivated or subunit vaccines within 7 days prior to vaccination in this study; * acute onset of various acute diseases or chronic diseases within 7 days prior to vaccination in this study; * has fever on the day of vaccination, with the axillary temperature \>37°c before vaccination; * is participating in or planning to participate in other vaccine or drug clinical trials; * any confirmed or suspected syphilis, hepatitis b or hepatitis c infection; * according to the investigator's judgment, the subject has any other factors that might interfere with the clinical trial results or pose additional risk to the participant due to participation in the study.
metabolic and infectious diseases in la réunion (the reunion population-based study)

Conditions: Infectious Disease; Cardiovascular Diseases; General Population; Metabolic Disease

Summary: the aim of the present study is to determine the prevalence of cardiometabolic and infectious disease in la reunion (french oversea department and region of france). known or suspected risk factor for these diseases will also be assessed, such as microbiota, cognitive impairement, social inequalities, and genetics.

overall, 2000 men and women will be recruited during two years for an extensive clinical examination including a microbiota, blood, hair and dna collection, cognitive tests, autonomous nervous system assessment, spirometry, pulse wave velocity measurement, a carotid doppler echo tracking.

Eligibility criteria:
inclusion criteria: * 18-67 years * given consent for genetic analysis, * written consent for participating in the study exclusion criteria: * judicial protection or guardianship

Keywords: epidemiology risk factors prevalence cognitive impairment dengue hypertension dyslipidemia social inequalities autonomous nervous system
therapeutic abstention and surveillance of intra-epithelial histological lesions of high grade cervical cin2 (cervical intraepithelial neoplasia grade 2). suivicin

Conditions: HPV Infection; Cervical Cancer

Summary: this study proposes to describe and evaluate the rate of spontaneous regression of cin2 at 2 year of follow up in women between 18 and 39 year old. this follow-up is proposed as an alternative to the treatment of reference (conization) with a possible extension to 4 years

the inca recommendations of december 2016 propose the destruction or abstention-monitoring of high-grade histological cervical lesions (hsil) as an alternative to conization under certain conditions. these are women under 30 years old, with a small lesion in colposcopy, without any sign of invasion, with a squamocolumnar junction seen. these women must accept the principle of regular monitoring by cytology and colposcopy +/- biopsy every 6 months for a maximum of 2 years. hsil group 2 histological entities cin2 and cin3. it is recognized that cin2 are associated with cin1 and cin3 biology whose diagnosis is the result of the subjectivity of colposcopy allowing cervical biopsy and the variability of pathological interpretation due to poor reproducibility of histological diagnosis. cin2 regress spontaneously in more than 50% of cases at 1 year, either completely (no lesion) or partially (lsil low grade lesions). no invasive lesions are diagnosed over 2-year observation periods. among the clinical, pathological and virological criteria, only the initial hpv genotyping seems to have a prognostic influence. there is therefore no strong scientific argument for routine conization in a woman over 30 years of age with a cin2 lesion extended over more than two quadrants. in addition, conization is associated with an obstetrical risk (prematurity) and post-therapeutic colposcopic cervical stenosis complicates subsequent monitoring in case of abnormal smears. these considerations encourage the extension of the indications of abstention monitoring in the management of women with cin2 wishing to procreate with an extension of the age to 39 year old, with no limit of size of the lesion and to satisfactory colposcopy

Eligibility criteria:
inclusion criteria: * cin2 confirmed by biopsy, age between 18 and 39 years, * satisfactory colposcopy identifying the junction and the lesion, * affiliated person or beneficiary of a social security scheme, * having given their oral agreement and authorization to the processing of their data. exclusion criteria: * pregnancy in progress, * history of conization, * atypical or atypical glandular cells or cancer incidentally discovered during smear, * prophylactic vaccination against hpv, * active systemic infection requiring treatment, history of hiv infection, congenital or acquired immunodepression, * long-term treatment with corticosteroids or immunosuppressants, placement under safeguard of justice, * non-compliance with protocol requirements, in particular a supposed lack of compliance with long-term follow-up

Keywords: hpv alternative to surgery cervical cancer