Kornimate/medical-research-clean huggingface dataset:
study of the diagnostic value of "rapid" high throughput genome sequencing analysis in diagnostic emergency situations

Conditions: Developmental Anomalies

Summary: rare diseases (affecting less than one in 2,000 people) are a major public health issue. there are about 8,000 rare diseases and they affect more than 3 million people in france. most of these diseases are diagnosed in children, and they are responsible for 10% of deaths before the age of 5. up to 80% of these diseases are believed to be of genetic origin. new generation high throughput sequencing (hts) technologies, which allow the study of an individual's entire genome, have emerged in recent years as a tool of choice for the study of rare diseases. our team was the first in france to demonstrate the value of exome sequencing (es: all coding regions (exons), representing 1% of the total genome size) in the diagnosis of severe diseases in pediatric patients, developmental anomalies and intellectual disability. although it represents a significant advance in the diagnosis of genetic diseases, es provides a contributing result in only about 30% of cases in patients with no obvious clinical diagnosis and with normal cgh-array. sequencing the entire genome (gs) promises to improve the ability to study the causes of genetic diseases, with an expected diagnostic rate of 50 to 60% through the concomitant identification of point variations, cnvs and structural variations. while some international teams have already implemented gs in the diagnosis of rare diseases, only two teams report the use of trio gs in emergency situations in the neonatal period, with a low yield for first-line diagnostic use (31 and 42% respectively). it is therefore essential that these preliminary results be compared with other studies before considering the deployment of gs in diagnostic, early detection or rapidly evolving emergency situations, such as neonatal resuscitation or pediatric neurological distress.


Eligibility criteria:
inclusion criteria: * children (0-6 years old) hospitalized in neonatal intensive care or pediatric intensive care with a suspected genetic disease and without an obvious clinical diagnosis * possibility of taking the proband and their 2 biological parents * parents affiliated to or beneficiaries of the national health insurance system * informed consent signed by the legal representatives of the minor patient * ability to understand the study for both biological parents exclusion criteria: * diagnostic hypothesis considered highly probable with an available molecular test having a lower cost than gs * individuals who have already had high throughput sequencing (panel, es) * parents protected * families where one of the two holders of parental authority is not a biological parent
invaplex 50 vaccine dose-ranging

Conditions: Diarrhea

Summary: the vaccine is given as a nose spray. volunteers will receive a 3-dose vaccination with doses spaced two weeks apart. volunteers will be assigned to a vaccination group based on their order of enrollment with consideration of their availability to complete the necessary vaccinations and follow-up visits.

this is an open-labeled dose escalating trial in which a total of 32 subjects (minimum of 24 allowable) will receive one of four intranasal invaplex 50 vaccine doses according to the following chart: test articles/dose group / n\* / invaplex 50 a / 8 / 10 micrograms b / 8 / 50 micrograms c / 8 / 240 micrograms d / 8 / 480 micrograms \*minimum of 6 volunteers/group an interval no less than 7 days following the third (and final) dose (total of 35 days between initial dose at the lower dose level and the next initial dose at the next higher dose level) will separate volunteer groups receiving different doses. all volunteers will receive three immunizations. the first dosing time point is day 0, the second is day 14 (+- one day), and the third is day 28 (+- 2 days). blood and stool specimens will be collected at intervals to examine systemic and mucosal vaccine antigen-specific immune responses. vaccine safety will be actively monitored during vaccination and for 28 days following the third vaccination dose.

Eligibility criteria:
inclusion criteria: * be in very good health. exclusion criteria: * smoker, or have stopped smoking less than one year ago * pregnant * history of chronic illnesses, such as: asthma, chronic sinusitis, or chronic seasonal allergies (such as hay fever) * received a vaccination for shigella or exposure to shigella bacteria in a research study or through work in a laboratory * positive for hiv, hepatitis b, and hepatitis c by blood test * using anti-diarrheal, anti-constipation, or antacid medications on a regular basis

Keywords: shigella diarrhea
trans people living with hiv throughout europe

Conditions: HIV Infections; Gender Identity; Human Immunodeficiency Virus

Summary: the project will study a european cohort of individuals identifying themselves as transgender or non-binary and living with hiv. the study will collect both qualitative data on this cohort and clinical data over an 18 month period. the study will investigate the success of hiv treatment for this cohort through the primary outcome measure of hiv viral load recorded in routine blood tests. the results from this study will assist in informing future hiv treatment guidelines on the monitoring of hiv infection in transgender and non-binary individuals and assisting in the design of future interventional studies within this population.

the time study is a multi-centre cohort study, combined with a cross-sectional survey.the study will comprise recording clinical data from up to three visits over an 18-month period. the study visits will happen at the same time of routine clinical care, and all clinical data will be collected in the study database. at the screening/baseline study visit (following written consent), a survey will be administered to all study participants. the overall recruitment target is 200 participants. the primary aim is to assess the rate of virological response to antiretroviral therapy in transgender and non-binary (gender diverse) people living with hiv (tplwh) in europe. it's secondary outcomes are: * to explore demographics, risk behaviours and community needs * to explore the barriers and facilitators to adherence to cart * to report tplwh experiences with regard to: * stigma * quality of life * prevalence of opportunistic infections * to record data on: * retention into care * clinical characteristics (e.g. drug toxicity, bmd results, hormone intake, drug interactions between hormones and antiretrovirals, cardiovascular risk, etc.) * implement and analyse a trans-inclusive method of gender identity data collection, in order to provide comprehensive demographic information that is acceptable at the community-level and includes a diverse spectrum of trans/non-binary genders across all study sites. people living with hiv (plwh) who refer to themselves as transgender and non-binary (and all gender diverse people).

Eligibility criteria:
inclusion criteria: * participant self-identifies as transgender and/or has a current gender identity which differs from gender assigned at birth (includes all gender diverse people) * age \> 18 years * hiv infection diagnosis at any time before study consent * having been prescribed antiretroviral therapy at any time (including people for who antiretroviral therapy initiation is planned after study enrolment) * willing to sign an informed consent and take part in the study exclusion criteria: * age \< 18 years * unable to take part in the study according to the investigator opinion (example: unable to understand the study information leaflet, unable to provide written consent, etc.)
use of new molecular markers for a personalized therapy in ovarian cancer-memento

Conditions: Ovarian Cancer

Summary: ovarian cancer (oc) is the leading cause of death from gynecologic cancer. it is estimated that 22,440 new cases of eoc will be diagnosed in 2017 with an estimated 14,080 eoc deaths. several different histological subtypes of oc can be identified. over 90% of malignant ovarian tumors are epithelial cancers (eoc), which are then classified into 5 broad histological subtypes: serous, endometrioid, mucinous, clear cell and mixed or carcinosarcomatous mullerian tumors. almost 10 years ago, a new classification was proposed that separated ovarian cancers into type i and ii tumors. type ii tumors included high-grade serous, which frequently contain mutations in p53, nf1, brca1, and brca2 and cdk125. serous carcinomas represent the vast majority of primary malignant ovarian tumors (75%-80%), among these high-grade serous (hgsoc) accounts for 85%-90% and for the majority of the deaths due to ovarian cancer. the 5-year survival rate for eoc is only 46% because \>60% of patients are diagnosed with advanced disease. patients with advanced stage eoc are typically managed with cytoreductive surgery and perioperative platinum-based chemotherapy, either in the adjuvant setting or with neoadjuvant chemotherapy and interval debulking surgery. although primary advanced stage eoc is initially sensitive to this treatment paradigm, \>75% will eventually recur. patients with recurrent disease are treated with additional lines of chemotherapy that may increase survival but is ultimately not curative. given the high relapse rate and poor prognosis of advanced stage eoc, interest is increasing in the development of new approaches to treat recurrent eoc.


Eligibility criteria:
inclusion criteria: * age ≥ 18 years * diagnosis of a first relapse of high-grade ovarian cancer (≥12 months after the last platinum administration); * p53 positive tumors evaluated by ihc (\>30% of stained tumor cells); * performance status (eastern cooperative oncology group scale, ecog) ≤ 2;- availability of the tumor sample for immunohistochemical analysis; * written informed consent. exclusion criteria: * pre-existing or concurrent tumors, except in situ carcinoma or basophilic carcinoma of the skin; * low p53 expression levels (\<30% of stained tumor cells); * persistent grade≥ 2 neuropathy; * severe heart disease; * surgeon's decision of a second curative surgery; * uncontrolled active infections; * insufficient patient compliance; * absence of signed informed consent
longitudinal cohort of thrombosis and hemostasis diseases

Conditions: Immune Thrombocytopenia; Thrombotic Thrombocytopenic Purpura; Hemophilia A, Acquired; Disseminated Intravascular Coagulation; Thrombophilia; Deep Vein Thrombosis; Pulmonary Embolism; Thrombotic Microangiopathies; Coagulation Factor Deficiency; Hemophilia A; Hemophilia B; Hemophilia B, Acquired; Platelet Dysfunction; Arterial Thromboembolism; Bleeding Disorder; Thrombosis

Summary: this is a multicenter, prospective, longitudinal, observational cohort study to investigate thrombosis and hemostasis diseases in chinese patients. this study will collect basic information, diagnostic and treatment information, as well as medical expense information of patients from medical records.the incidence and risk factors of thrombosis and hemostasis diseases, the treatment methods, prognosis and medical expenses of these patients in china will be analyzed. the study will use questionnaire to measure the exposure of patients, and prospectively follow-up to collect the prognosis information.

thrombosis and hemostasis diseases are a group of high-risk hematological diseases, characterized by bleeding or hypercoagulability caused by congenital or acquired abnormalities in hemostasis, coagulation, and fibrinolysis. thrombosis and hemostasis diseases included various bleeding and thrombotic diseases such as primary immune thrombocytopenia (itp), thrombotic thrombocytopenic purpura (ttp), hemophilia, disseminated intravascular coagulation (dic), thrombophilia, pregnancy with itp, pregnancy with prethrombotic state (such as protein c, protein s deficiency, etc.), deep vein thrombosis, pulmonary embolism, thrombocytopenia and coagulation abnormalities after hematopoietic stem cell transplantation, and so on. thrombosis and hemostasis diseases have a high incidence rate, may affect patients' quality of life and even are associated with the poor survival. however, current studies are mostly based on data from limited sample size cohorts, lacking comprehensive and large-scale prospective cohort studies. this is a multicenter, prospective, longitudinal, observational cohort study investigating the incidence and risk factors of thrombosis and hemostasis diseases, and to analyze the treatment methods, prognosis and medical expenses of these patients in china.this study will collect basic information, diagnostic and treatment information, as well as medical expense information of patients from medical records. the study will use questionnaire to measure the exposure of patients, and prospectively follow-up to collect the prognosis information.

Eligibility criteria:
inclusion criteria: * patients who were diagnosed as thrombosis and hemostasis diseases. exclusion criteria: * long-term follow-up information for patients is not available for any reason, such as not being available or having a serious concomitant disease. * patients with alcohol and drug addictions or mental illness affect their ability to comply with study requirements. * according to the investigator, there are conditions that may endanger the patient's safety or affect his/her compliance.

Keywords: thrombosis hemostasis
the effects of relaxation training in women with primary dysmenorrhea

Conditions: Primary Dysmenorrhea

Summary: the aim of this study was to investigate the effects of relaxation training on menstrual pain severity, menstrual symptoms, impact of quality of life, impact of work/academic performance, impact of social activity level and anxiety level in women with primary dysmenorrhea (pd) complaints.

pd is the cramping pain that comes before or during a menstrual period. relaxation training contributes to the reduction of stress and pain. thus, there is a need to investigate the effects of relaxation training in dysmenorrhea.

Eligibility criteria:
inclusion criteria: * women with primary dysmenorrhea complaint according to the primary dysmenorrhea consensus guide, * over 18 years of age, * having a mean pain intensity of moderate and higher according to the visual analogue scale in the last 6 months, * having a regular menstrual cycle (28±7 days), * volunteered to participate in the study. exclusion criteria: * having a pathological history and radiological findings pointing to secondary dysmenorrhea, * using oral contraceptives/antidepressants at least 6 months, * receiving hormone therapy, * undergoing pelvic surgery, * pregnant, * giving birth, * using an intrauterine device, * having neurological, orthopedic and/or rheumatological diseases * having a psychiatric disease, * having a history of malignancy
in vitro and ex vivo anti-inflammatory activities of salmon polar lipids

Conditions: Cardiovascular Diseases

Summary: the aim of this project is to study the effects of a new-developed food-supplement that contains bioactive polar lipids derived from organic farmed irish salmon for the beneficial promotion of cardiovascular health. the health claims that will be formulated for this nutraceutical are based on efsa guidelines "the scientific requirements for health claims related to antioxidants, oxidative damage and cardiovascular health" and in particular paragraph 5.4, "claims on reduced platelet aggregation" "platelet hyperactivity and hypercoagulability states are more commonly observed in subjects with cardiovascular (cv) risk factors. healthy subjects at very low risk of cv disease normally have non-activated circulating platelets. decreasing platelet aggregation in subjects with platelet activation during sustained exposure to the food/constituent (e.g. four weeks) would be a beneficial physiological effect". within this study, the postprandial effects of this novel food supplement against platelet aggregation and inflammation are going to be exploited ex vivo in blood from human subjects as described in previously established procedures.


Eligibility criteria:
inclusion criteria: subjects need to: * have their dietary intake of fish to be within normal range (1-2 portions per week). exclusion criteria: subjects will be excluded if they: * are currently taking medication and/or dietary supplements * have blood clotting disorders or dislipidemia
risk stratification in children and adolescents with primary cardiomyopathy

Conditions: Primary Cardiomyopathy; Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy; Left Ventricular Noncompaction; Restrictive Cardiomyopathy; Arrhythmogenic Right Ventricular Cardiomyopathy

Summary: rikada is a prospective study performing systematic family screening including clinical and genetic testing in pediatric patients with primary cardiomyopathy and their first-degree relatives with the aim to facilitate risk stratification.

rikada is a long-term prospective study performing in-depth phenotype and genotype characterization in children and adolescents with primary cardiomyopathy and their first-degree family members. family screening contains complete cardiac work-up with medical history, physical examination, 12-lead-/holter-electrocardiogram, cardiopulmonary exercise testing, echocardiography, cardiovascular magnetic resonance (cmr) and laboratory including genetic testing. the aim is to facilitate early identification of at-risk individuals and contribute to patient-specific follow-up and therapy regimes preventing progressive heart failure and arrhythmia in pediatric cmp.

Eligibility criteria:
inclusion criteria: 1. index patients: * age ≤18 years * written informed consent of parents/legal guardians * diagnosis of primary cardiomypathy: * dcm: left ventricular (lv) systolic dysfunction and dilatation greater than two standard deviations (sd) above the mean of a normal population * hcm: lv hypertrophy and septal wall thickness above two sd * rcm: diastolic dysfunction and concordant atrial enlargement * lvnc: separation of the myocardium into a compacted (c) and a non- compacted (nc) layer with an nc/c ratio \>2 in echocardiography and/or \>2.3 in cmr * arvc: according to the revised task force criteria 2. first-degree family members (parents and siblings): * age ≥3 years * written informed consent of parents/legal guardians and siblings ≥18 years exclusion criteria: * unwillingness to give consent * myocardial inflammation / myocarditis * systemic disease with cardiac involvement (secondary cardiomyopathy) * structural congenital heart disease

Keywords: pediatrics cardiomyopathy heart failure risk stratification family screening genetics
influence of bionecteurs on catheter-associated infection

Conditions: Infection

Summary: bionecteur® is a protective non-touch applicator to ensure aseptic connection made by vygon. however, there are no studies describing a positive effect of using bionecteurs ® in regard to catheter-related bloodstream infections. in this study bionecteur® will be used on central venous lines and arterial lines in postoperative patients of a 40-bed icu. the incidence of catheter-related bloodstream infections will we compared to patients without inclusion of bionecteur® devices.

* prospective, randomised observational study * postsurgical patients in an anesthesiological icu with icu los (los: length of stay) \> 3 days * inclusion: ---- age ≥ 18 years ---. demand of central venous and arterial line --- written consent of patient and/or assignee * exclusion * handicapped patients * patient with icu los \< 3 days * study design 1. three days after admission to icu blood cultures are drawn to exclude preexisting blood stream infection 2. patients in a bed with even number are assigned to bionecteur® group. control group (without using bionecteurs) are patients with an odd bed number. 3. biconecteurs® are connected to all lumens of the central catheter and to arterial catheter. control group is treated without using bionecteurs®. handling of vascular catheters are performed as described in institutional guidelines in both groups. 4. catheter-related bloodstream infections are monitored by an independent person during icu treatment 5. the study will be finished ab discharge of icu or removal of catheters.

Eligibility criteria:
inclusion criteria: * length of stay (los) in icu \> 3 days * written consent by patient or notarial carers * medical indication for central venous line/arterial line exclusion criteria: * handicap * los icu \< 3 days * no consent

Keywords: catheter-related bloodstream infections
early postnatal discharge in a french perinatal network

Conditions: Pregnancy Complications Nos; Labor/Delivery Problems Nos; Vitality; Newborn

Summary: the purpose of this "before-after" study is to determine the effectiveness of a multidimensional intervention to increase the rate for early discharge of low-risk mothers and the healthy newborn in a perinatal network.

in march 2014, the french health authorities edited new guidelines about early discharge after delivery. early discharge is defined as a discharge during the 72 hours following vaginal delivery of low-risk mothers and their healthy newborn. these guidelines defined the conditions of eligibility for early discharge for mothers and babies, and the different criteria of their follow-up at home by midwives . the average length of stay following normal delivery is higher in france than in other european countries: eg : 4.3 days in france vs 2.2 days in sweden (oecd indicators 2011) on the other hand, according to an investigation conducted by a patients association, 38% women declared that they felt that their hospitalization was too long after their baby's birth, but their request for a shorter stay had not been taken into account by hospital caregivers. the investigators hypothesis is that the rate of early discharge could be increased by a multi-pronged program coordinated in a perinatal network, and could improve quality of postpartum care, and women's satisfaction. the "réseau périnatal alpes isère" is a perinatal network located in french alps region. its purpose is to coordinate 5 maternity services an organization of midwives providing pre and postnatal home care, for about 10000 births annually. in 2010, according to the hospital database provided by the medical information systems program, early discharge concerned only 4.1% of mothers between 0 and 48 hours after delivery . at the same time, 65% of women could be considered as at low risk, considering they gave birth to a healthy singleton, born after 38 weeks of gestation by vaginal delivery. this rate is not precise, in view of the lack of availability of documented rate of non-eligibility for early discharge such as non- eutrophic babies, or adverse events during postpartum and the neonatal period.

Eligibility criteria:
inclusion criteria: "1" low risk mothers ith uncomplicated pregnancy and birth defined as * lack of mental disability * lack of referred problems about mother to infant bonding * lack of precarious state * vaginal delivery without bleeding more than 500cc * lack of postpartum complications during hospitalization "2" low risk baby defined as * singleton * gestational age \>= 38 weeks * apgar score \> 7 at 5 minutes life * normal weight expected for gestational age * lack of infection, or jaundice exclusion criteria: * person deprived of liberty * person who does not speak french * person not covered by health insurance

Keywords: patient discharge hospital readmission postnatal care home care services cost-benefit analysis personal satisfaction community care networks