title: Epigenetic Regulation of Activity and Severity of Fibrous Dysplasia in Bone: mirDYS Study.

acronym: MirDYS

summary:
Fibrous dysplasia of bone is a rare congenital but non-hereditary disease caused by a post-zygotic activation mutation of the GNAS gene. Patients with fibrous dysplasia may present pain and bone complications (fractures, deformities..) related to their bone lesions.

For undetermined reasons, severity and disease evolution may vary considerably from patient to patient.

Epigenetic regulation could then be involved, including micro Ribonucleic Acids (miRs).

These small non-coding micro Ribonucleic Acids are involved in the regulation of major steps of cellular processes in different pathologies, in particular in bone diseases. However, micro Ribonucleic Acids have never been studied in fibrous dysplasia.

The aim of this study is to identify micro Ribonucleic Acids significantly associated with the severity of fibrous dysplasia.

ReferenceCitation: Legrand MA, Millet M, Merle B, Rousseau JC, Hemmendinger A, Gineyts E, Sornay-Rendu E, Szulc P, Borel O, Croset M, Chapurlat R. A Signature of Circulating miRNAs Associated With Fibrous Dysplasia of Bone: the mirDys Study. J Bone Miner Res. 2020 Oct;35(10):1881-1892. doi: 10.1002/jbmr.4111. Epub 2020 Jul 21.

name: Department of Rheumatology Edouard Herriot University Hospital  Lyon France

name: INSERM UMR 1033 Université de Lyon  Lyon France

family: Legrand

full_name: Mélanie A Legrand

given: Mélanie A

family: Millet

full_name: Marjorie Millet

given: Marjorie

family: Merle

full_name: Blandine Merle

given: Blandine

family: Rousseau

full_name: Jean‐Charles Rousseau

given: Jean‐Charles

name: The Lymphoma Academic Research Organization (LYSARC)  Pierre‐Bénite France

family: Hemmendinger

full_name: Anaelle Hemmendinger

given: Anaelle

family: Gineyts

full_name: Evelyne Gineyts

given: Evelyne

family: Sornay‐Rendu

full_name: Elisabeth Sornay‐Rendu

given: Elisabeth

family: Szulc

full_name: Pawel Szulc

given: Pawel

family: Borel

full_name: Olivier Borel

given: Olivier

family: Croset

full_name: Martine Croset

given: Martine

family: Chapurlat

full_name: Roland Chapurlat

given: Roland

journal_name: Journal of Bone and Mineral Research

publisher: Wiley

publisher_dissemination: Wiley

publisher_group: Wiley

publisher_normalized: Wiley

lead_sponsor: Hospices Civils de Lyon

location_facility: Service de Rhumatologie & INSERM U1033, Pavillon F, Hopital Edouard Herriot


type: Other Identifier

title: Impact of Association of Individual and Group Therapeutic Education Sessions on the Acquisition of Safety Skills by Patients With Chronic Inflammatory Rheumatism (CIR) Treated With Subcutaneous Biotherapy, Compared to Individual Therapeutic Education Sessions Alone

acronym: ERIBIO

summary: The hypothesis is that group interaction associated with individual interviews intensify the acquisition of safety skills compared to individual interviews alone in patients with CIR treated by subcutaneous biotherapies.

study_start_date_type: Actual

status: Recruiting

study_completion_date_type: Anticipated

study_type: Interventional

design_allocation: Randomized

primary_purpose: Treatment

enrollment_type: Anticipated

ReferenceType: background

ReferenceCitation: Gossec L, Fautrel B, Flipon É, Lecoq d'André F, Marguerie L, Nataf H, Pallot Prades B, Piperno M, Poilverd RM, Rat AC, Sadji F, Sordet C, Thevenot C, Beauvais C. Safety of biologics: elaboration and validation of a questionnaire assessing patients' self-care safety skills: the BioSecure questionnaire. An initiative of the French Rheumatology Society Therapeutic Education section. Joint Bone Spine. 2013 Oct;80(5):471-6. doi: 10.1016/j.jbspin.2012.11.009. Epub 2013 Aug 20.

ReferenceCitation: Grønning K, Rannestad T, Skomsvoll JF, Rygg LØ, Steinsbekk A. Long-term effects of a nurse-led group and individual patient education programme for patients with chronic inflammatory polyarthritis - a randomised controlled trial. J Clin Nurs. 2014 Apr;23(7-8):1005-17. doi: 10.1111/jocn.12353. Epub 2013 Jul 22.

ReferenceCitation: Homer D, Nightingale P, Jobanputra P. Providing patients with information about disease-modifying anti-rheumatic drugs: Individually or in groups? A pilot randomized controlled trial comparing adherence and satisfaction. Musculoskeletal Care. 2009 Jun;7(2):78-92. doi: 10.1002/msc.141.

ReferenceCitation: Koev DJ, Tankova TI, Kozlovski PG. Effect of structured group education on glycemic control and hypoglycemia in insulin-treated patients. Diabetes Care. 2003 Jan;26(1):251.

lead_sponsor: University Hospital, Clermont-Ferrand

intervention_type: Other

lead_sponsor_type: academique

status_simplified: Ongoing


title: Evaluation of Oxygenation Methods and Non-invasive Ventilatory Support in Patients With Acute Respiratory Failure for Whom a Do-not Intubate Order Was Taken: Prospective Observational Study

acronym: OXYPAL

summary: ICU care of patients considered "palliative" but without contraindications to admission to intensive care, for whom a do-not intubate order decision was made upon admission represents a particular target for non-invasive oxygenation techniques. The benefits of non invasive ventilation (NIV) in this population are debated especially in cancer patients. The more recently used nasal humidified high flux canula oxygenation (HFNC) therapy may have benefits over NIV in these patients. It is supposed to have better tolerance and could allow better compliance and thus higher efficiency. These potential benefits are major for such a population for which tolerance and symptomatic relief are priority goals

status: Unknown status

study_type: Observational

time_perspective: Prospective

ReferenceType: derived

ReferenceCitation: Robert R, Frasca D, Badin J, Girault C, Guitton C, Djibre M, Beuret P, Reignier J, Benzekri-Llefevre D, Demiri S, Rahmani H, Argaud LA, I'her E, Ehrmann S, Lesieur O, Kuteifan K, Thouy F, Federici L, Thevenin D, Contou D, Terzi N, Nseir S, Thyrault M, Vinsonneau C, Audibert J, Masse J, Boyer A, Guidet B, Chelha R, Quenot JP, Piton G, Aissaoui N, Thille AW, Frat JP. Comparison of high-flow nasal oxygen therapy and non-invasive ventilation in ICU patients with acute respiratory failure and a do-not-intubate orders: a multicentre prospective study OXYPAL. BMJ Open. 2021 Feb 12;11(2):e045659. doi: 10.1136/bmjopen-2020-045659.

family: Robert

full_name: René Robert

given: René

sequence: first

family: Frasca

full_name: Denis Frasca

given: Denis

sequence: additional

family: Badin

full_name: Julie Badin

given: Julie

family: Girault

full_name: C Girault

given: C

family: Guitton

full_name: Christophe Guitton

given: Christophe

family: Djibre

full_name: Michel Djibre

given: Michel

family: Beuret

full_name: Pascal Beuret

given: Pascal

family: Reignier

full_name: Jean Reignier

given: Jean

family: Benzekri-Llefevre

full_name: Dalila Benzekri-Llefevre

given: Dalila

family: Demiri

full_name: Suela Demiri

given: Suela

family: Rahmani

full_name: Hassène Rahmani

given: Hassène

family: Argaud

full_name: Laurent Argaud Argaud

given: Laurent Argaud

family: I'her

full_name: Erwan I'her

given: Erwan

family: Ehrmann

full_name: Stephan Ehrmann

given: Stephan

family: Lesieur

full_name: Olivier Lesieur

family: Kuteifan

full_name: Khaldoune Kuteifan

given: Khaldoune

family: Thouy

full_name: Francois Thouy

given: Francois

family: Federici

full_name: Laura Federici

given: Laura

family: Thevenin

full_name: Didier Thevenin

given: Didier

family: Contou

full_name: Damien Contou

given: Damien

family: Terzi

full_name: Nicolas Terzi

given: Nicolas

family: Nseir

full_name: Saad Nseir

given: Saad

family: Thyrault

full_name: Martial Thyrault

given: Martial

repository_institution: Le Centre pour la Communication Scientifique Directe - HAL - Diderot


title: Sensors for HEalth Recording and Physical Activity Monitoring

acronym: SHERPAM

summary: The SHERPAM project is part of a scientific and technological context which aim is to record, transmit, analyse the physiological parameters of a patient, as well as to record the feedback to the patient and health professional to suggest the best individualised attitude. The questions of SHERPAM are generic. However, two specific applications will be addressed, in which the partners have already acquired some expertise: the recognition and quantification of physical activity with energy expenditure estimation, and the assessment of walking ability in patients with obliterative vascular disease in the lower limbs. Another application concerns the monitoring of the practice of physical activity and some biological signs in subjects with cardiovascular risk and in cardiac patients (arrhythmogenic diseases). Despite various clinical contexts and health goals, a common approach will be developed.

status: Completed

study_completion_date_type: Actual

design_allocation: Non-Randomized

primary_purpose: Device Feasibility

enrollment_type: Actual

ipd_sharing: No

lead_sponsor: Rennes University Hospital

intervention_type: Device

status_simplified: Completed


title: Peri-gravidic Exposure to Endocrine Disrupting Persistent Organic Pollutants Dioxins and Dioxin-like Dioxins and the Development of Breast Cancer Within 15 Years: Prospective Longitudinal Case-control Study

acronym: SEINPOL

summary:
Breast cancer, the first female cancer, affects one in eight women in her lifetime. The increase and unequal distribution of its prevalence throughout the world, regardless of age and genetic factors (< 10% of cases), observations in migrant women and the increased risk in women who have been exposed in utero to diethylstilbestrol, suggest the involvement of environmental factors that can act very early in development, such as persistent chemical pollutants (POPs) that are endocrine disrupting (EP) acting via nuclear receptors. But the demonstration of the deleterious role of such exposure to chemical pollutants is confronted epidemiologically with methodological difficulties: the correlation is most often sought at the time of cancer discovery when the critical windows of exposure are for the breast, fetus, perinatal, peri-advertising or pregnant and a single pollutant is usually measured, whereas they can be potentiated ("cocktail effect").

The objective of this project is therefore to assess the risk related to pre- and per-gravidic exposure to a range of POPs families (dioxins, dioxin-like, PolyChlorinated Bysphenyls PCBs, flame-retardant polybrominated compounds, waterproofing perfluorinated compounds and several organochlorine pesticides), to develop breast cancer within 15 years of delivery, taking into account the conventional risk factors for breast cancer.

This project benefits from a historical bio-bank of 6242 cord blood, an indirect reflection of the pre and per-gravidic maternal exposure, a bank set up between 2002 and 2005, during a PHRC at the Nice University Hospital, frozen and stored under strict and regulatory conditions, declared to the CNIL, and the Cancer Observatory / CRISAP of the PACA-Corsica region, with an exhaustive register of over 92% since 2005, and containing the main characteristics of cancer. The cross-referencing of these two registers (biobanks and CRISAP), supported by the preliminary feasibility study (155 cases of cancer expected, 35% of controls lost to follow-up or opposed to participation), makes it possible to consider a prospective case-control study nested in the cohort of mothers included in the bio-bank.

It will therefore be investigated whether women parturient women of this period who had the highest levels of POPs cord blood between 2002 and 2005 had a higher risk of developing breast cancer than those who had the lowest levels, taking into account other known risk factors.

The assays will be carried out by LABERCA in Nantes, the national reference laboratory, using gas chromatography/high-resolution mass spectrometry coupling. Blood lipid concentrations will be described in quartile and analyzed in continuous values, alone or in combination with a cumulative score, in N=140 cases and 2N=280 controls, matched for age and parity at birth by random drawing, sample required for 80% power, risk 5% OR at 2, frequency of exposure>70%.

The investigators propose to develop a predictive model of breast cancer occurrence based on exposure to endocrine disrupters measured during pregnancy by adjusting for known breast cancer risk factors.

These conditions should provide information on the possible association of exposure to POPs present in the domestic environment during critical pre- and per-gravidic periods and the risk of breast cancer and reinforce the relevance of preventive measures recently recommended during pre-conceptional and/or pre-natal consultations.

time_perspective: Retrospective

lead_sponsor: Centre Hospitalier Universitaire de Nice


title: SMOLY : Phenotype and Functions of Monocyte Subtypes in High Grade B Lymphoma: Towards New Biomarkers?

acronym: SMOLY

summary:
Large-cell B-cell lymphoma (DLBCL) is the most common non-Hodgkin's lymphoma and accounts for about 40% of new cases. Although the DLBCL is a single entity in the WHO classification, several subgroups with different prognoses are recognized. These subgroups take into account the tumor localization (primitive cerebral lymphoma, serous lymphoma, intravascular or exclusive lymph node) or a particular molecular signature (GCB profile, germline center B cell or ABC, activated B cell). Despite the introduction of immunotherapy, treatment failures are common. Overall survival at 5 years is estimated to be between 26 and 73%. This highlights the important heterogeneity of this pathology and therefore the need for biomarkers prognosis. Recently, an increase in monocytes in the blood of DLBCL patients has been proposed as a prognostic factor for independent survival. This marker of poor prognosis is also found in many solid.

Monocytes are effectors of the inflammatory response. They have different functional profiles depending on the level of expression of CD14 and CD16. Four subtypes of monocytes are distinguished: classical (CD14posCD16neg), intermediate (CD14posCD16pos) and non-classical (CD14lowCD16pos); the latter population is divided into two sub-groups depending on the expression of the SLAN protein. The different monocytic subpopulations have very diverse functions ranging from an immunosuppressive profile to an activation of the immune system. CD14posCD16neg monocytes are specialized in phagocytosis, production of oxygen derivatives (ROS) and pro-inflammatory cytokine secretion in response to microbial infection. CD14dimCD16pos monocytes are specialized in immune surveillance and produce proinflammatory cytokines such as TNFα and IL-1β in response to LPS stimulation.7 The Slanpos subpopulation produces IL-12 and thus has pro-inflammatory properties. Finally, CD14posCD16pos monocytes have controversial functions. For some authors, they produce the immunomodulatory cytokine IL-10, inhibit the proliferation of CD4 T lymphocytes and induce the recruitment of regulatory T lymphocytes, while for others they produce TNF-α, a pro- inflammatory.From a practical point of view CD14 and CD16 expression forms a continuum, which translates into complexity in the phenotypic definition of these cells and explains the contradictory data on their functionalities. Interestingly, in a laboratory work and in the course of publication, this fraction is increased in the blood of DLBCL patients compared to healthy donors (manuscript in preparation), on the contrary the monocytic fraction CD14dimCD16 pos is decreased in these patients.

In the end, if the increase in monocytes is known to be poor prognosis in patients with DLBCL, the monocyte fraction involved and the monocytic functions involved in this phenomenon are not known.

Since 2011, the Clinical and Biological Hematology Services have a database from a research protocol (BMS_LyTrans). This protocol includes patients with DLBCL as well as healthy patients, in order to allow the biological characterization of biomarkers in this pathology. Thus, we have blood samples and analysis of certain monocyte subtypes by flow cytometry at diagnosis, in more than 100 patients with DLBCL.


title: Use of Compuflo in Pediatric Anesthesia: Monitoring of Injection Pressure of Local Anesthetics in Children

acronym: COMPUFLO

summary: A low injection pressure is one of the safety elements to check the correct position of the needle during regional anesthesia. Subjective assessment of pressure during manual injection of local anesthetic is most commonly used. In adults, the monitoring of the injection pressure has already been evaluated and makes it possible to objectify the pressure of the injection pressure. This is possible thanks to a device named Compuflo. No study has measured injection pressures during a regional anesthesia in children. The main objective is to control the injection pressures exercised in daily clinical practice during pediatric regional anesthesia with the Compuflo. Regional anesthesia will be proposed and explained during the anesthesia consultation. The procedure will be performed according to the habits of the anesthesiologist in charge of the patient. Only the addition of the Local Anesthetic Injection Pressure monitoring (Compuflo) to the needle changes the usual setup.

primary_purpose: Other

ipd_sharing: Undecided

lead_sponsor: University Hospital, Montpellier


title: Pilot Study Evaluating the Safety and Efficacy of a Photobiomodulation Prototype, REGEnLIFE RGn530 Device, on Cognitive Performances Evolution From Mild-to-moderate Alzheimer's Disease Patients

summary:
REGEnLIFE RGn530 is a photobiomodulation medical device, consisting in a modular helmet and abdominal panel, composed of near-infrared low-level lasers (LLLT), near-infrared and red LEDs as well as a static magnetic field. RGn device application on both head and abdomen have demonstrated striking efficacy in preclinical studies. The investigator's results clearly indicated that RGn treatment produces a normalization of all parameters that are strongly modified in the model, including memory performances associated to oxidative stress, neuroinflammation or apoptosis markers, microbiota composition and specific markers related to the amyloid or tau processes (Blivet et al., Alzheimers Dement (NY), 2018).

Following such promising results, this pilot clinical study will evaluate the safety and efficacy of REGEnLIFE RGn530 device on cognitive performances evolution from mild-to-moderate Alzheimer's disease patients. The double-blind, randomized, monocentric sham-controlled clinical trial will be performed at the CHU de Montpellier. 64 patients will be enrolled: 32 in photobiomodulation group and 32 in sham group. Each patient will follow 8 weeks of treatment with 5 sessions of 25min per week (total of 40 sessions) and will undergo, for a total period of three months, series of clinical examinations including cognitive evaluation, biological and electrophysiological analyses, sleep recordings, and imaging assessments.

REGEnLIFE RGn530 medical device will follow EC labelling if proven to be safe and effective. In the light of anti-amyloid therapeutic approaches lack of success, RGn530 dual treatment is hoped to be particularly valuable as an innovative and extensive treatment strategy for AD.

status: Terminated

location_facility: Montpellier University Hospital, Gui de Chauliac

status_simplified: Unknown


title: Study of Circulating Glicentin Levels in Patients With Intestinal Ischemia

acronym: GLICENTINEDIGE

summary:
Hormones derived from proglucagon represent a family of peptides produced by the alpha cells of the pancreas and by the intestinal L cells. In the pancreas, the maturation of proglucagon mainly leads to the synthesis of glucagon, while in the intestine, the cleavage of proglucagon allows the synthesis of different peptides including glicentine, oxyntomodulin, Glucagon Like Peptide-1 (GLP-1) and Glucagon Like Peptide-2 (GLP-2).

Glicentin is produced by L cells throughout the digestive tract, from the small intestine to the rectum, with a majority secretion in the colon. Studies in humans and animals have shown its role in the intestinal mucosa. It has a stimulating effect on the proliferation of the intestinal mucosa as well as an effect on smooth muscle cells and regulates trophicity and intestinal motility. Its circulating rate could be modified in case of intestinal ischemia. Mesenteric ischemia is a major diagnostic problem with high morbidity and mortality, particularly in the event of delayed treatment.

The sensitivity and specificity of current markers are low. The identification of new biomarkers of the disease would improve the diagnosis and management of patients with the disease.

The objective of the project is to determine a difference in circulating glicentin levels in patients with intestinal ischemia versus a control group.

On this prospective monocentric study, 40 patients with digestive ischemia will be included in the Emergency Department of the University Hospital of Nice. A control group of 40 patients with abdominal pain will be formed. The circulating glicentin levels will be measured on serum by Elisa technique at the Biochemistry Laboratory of the University Hospital of Nice, work that has been published in 3 scientific journals allowing us to develop and validate the technique.The staff will determine whether patients with digestive ischemia have impaired serum glicentin levels.

The evaluation of the interest of new biological markers of mesenteric ischemia such as glicentine would constitute a definite diagnostic advance. This project could eventually offer new diagnostic and/or therapeutic perspectives in the management of these patients.

study_start_date_type: Anticipated

primary_purpose: Basic Science


title: Children Born With Club Feet: Ultrasound Diagnosis and Antenatal Assessment

acronym: CBCF

summary:
Clubfoot is one of the most common birth defects, with a prevalence in Europe estimated between 1 and 4.5 for 1000 live birth.

It is useful to distinguish the forms of isolated clubfoot, and the forms related to others morphological abnormalities (complex clubfoot). For the complex forms, the clubfoot can be integrated in a syndromic association, be the consequence of a serious harm of the central nervous system, be associate to a genetic musculo-skeletal disease or wether be associated to a karyotype abnormality.

In those cases, the prognosis depends more about the associated morphological abnormalities that can be the beginning of a severe disability or incompatible with life or any anomaly of the karyotype that clubfoot itself.

In case of several morphological abnormalities, to propose invasive samples with realization of a karyotype and chromosome analysis with CGH array is a consensual attitude.

What the investigators should recommended to the parents in case of isolated form is less obvious and the question of antenatal investigations can not be answered clearly in the literature. Thus, the management of these patients may vary from one CPDP to another.

This study project will make it possible to analyze the management offered to patients whose fetuses have club feet and to study the results of the various examinations carried out in order to adapt the prenatal counselling and to define the best diagnostic strategy to propose to the future parents.

ipd_sharing_description: NC


title: Combination of Flash Glucose Measure System and Continuous Subcutaneous Insulin Infusion Therapy in Patients With Type 1 Diabetes and Poor Glycemic Control Related to Very Few Self-blood Glucose Measurements

acronym: FREESTYLE

summary: Patients with diabetes type 1 with poor glycemic control will be switched to insulin pump and FGM system (Flash Glucose Monitoring) during 6 months, correlated to the hypothesis that they could benefit from this intervention by being reengaged in diabetes self-management.

ReferenceType: result

ReferenceCitation: Halbron M, Bourron O, Andreelli F, Ciangura C, Jacqueminet S, Popelier M, Bosquet F, Rouanet S, Amouyal C, Hartemann A. Insulin Pump Combined with Flash Glucose Monitoring: A Therapeutic Option to Improve Glycemic Control in Severely Nonadherent Patients with Type 1 Diabetes. Diabetes Technol Ther. 2019 Jul;21(7):409-412. doi: 10.1089/dia.2019.0041.

name: Assistance Publique-Hôpitaux de Paris (AP-HP), Diabetes Department, Hôpital Pitié-Salpêtrière, Paris, France.

name: Assistance Publique-Hôpitaux de Paris (AP-HP), CIC 1421, Department of Pharmacology, INSERM, Paris, France.

family: Halbron

full_name: Marine Halbron

given: Marine

name: Assistance Publique-Hôpitaux de Paris (AP-HP), Diabetes Department, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France.

family: Bourron

full_name: Olivier Bourron

given: Olivier

family: Andreelli

full_name: Fabrizio Andreelli

given: Fabrizio

family: Ciangura

full_name: Cecile Ciangura

given: Cecile

family: Jacqueminet

full_name: Sophie Jacqueminet

given: Sophie

family: Popelier

full_name: Marc Popelier

given: Marc

family: Bosquet

full_name: Frederic Bosquet

given: Frederic

name: Statistician Unit, StatEthic SASU, Levallois-Perret, France.

family: Rouanet

full_name: Stephanie Rouanet

given: Stephanie

family: Amouyal

full_name: Chloe Amouyal

given: Chloe

family: Hartemann

full_name: Agnes Hartemann

given: Agnes

bso_classification: Medical research

datasource: user

genre: journal-article

genre_raw: journal-article

journal_name: Diabetes Technology & Therapeutics

publisher: Mary Ann Liebert Inc

publisher_dissemination: Mary Ann Liebert Inc

publisher_group: Mary Ann Liebert Inc

publisher_normalized: Mary Ann Liebert Inc

lead_sponsor: Groupe Hospitalier Pitie-Salpetriere


type: EudraCT Number

title: A Study of the Dose-response Relationship of Low-dose IL-2 to the Kinetics of Regulatory T-cell Response in Healthy Volunteers

summary: The purpose of this study is to evaluate the safety and the dose-response relationship of ILT-101 to blood Tregs.

lead_sponsor: Assistance Publique - Hôpitaux de Paris

location_facility: Clinical Investigation Center Paris Est Hôpital Universitaire Pitié-Salpêtrière 83 bd de l'Hôpital 75013 Paris

intervention_type: Drug


title: Does Chemotherapy Train the Mutation of the Pig-A Gene?

summary: The PIG-A gene (in humans)/Pig-a (in rodents) may be a useful reporter of acquired gene mutation. A simple and reproductive test based on flow cytometry allows detection of Pig-a mutants in a few minutes with low blood volumes. Many studies in rodents showed that detecting Pig-a mutations is useful for identifying genotoxic exposure, but studies are needed in humans to validate this biological marker. The investigators propose to carry out a study to assess the prevalence of PIG-A mutated reticulocytes among 30 patients exposed to genotoxic chemotherapy for breast cancer treatment. The investigators will prospectively collect, for each patient, 4 blood samples of 10mL during chemotherapy: the first one (T0) before chemotherapy (before genotoxic exposure), T1 during treatment (after the third cure), T2 (just at the end of chemotherapy) and T3 (five weeks after the end of chemotherapy). PIG-A mutated cells frequency distributions will be compared between T0, T1, T2 and T3. At the same time, the investigators will document the impact of such a genotoxic exposure using the micronuclei test on in vitro binucleate lymphocytes. The micronuclei test reveals structural or numerical chromosome aberrations caused by aneugenic or clastogenic exposure. This test will be done on T0 and T3 blood samples of each patient.

primary_purpose: Diagnostic

lead_sponsor: Assistance Publique Hopitaux De Marseille

location_facility: : Service de Gynécologie Obstétrique Hôpital Nord

intervention_type: Biological


title: Vestibular Evaluation Before and After Treatment of Vestibular Schwannoma. Comparison of Gamma Knife Radiosurgery and Microsurgical Resection

acronym: EVTSVCGEC

summary:
Vestibular schwannoma is a benign tumor located on the vestibular nerve. Patient could present dizziness symptoms cause to the tumor, and at least after the treatment by gamaknife radiosurgery or microsurgery resection.

Only few studies keep the interest about dizziness symptoms and treatment modality in vestibular schwannoma.

In the study dizziness symptoms were compared before and after the treatment of vestibular schwannoma by radiosurgery gammaknife or microsurgery resection. 2 scales were used : dizziness handicap inventory (DHI) and dizziness functionnal scale (AAO).

ReferenceCitation: Carlson ML, Tveiten ØV, Driscoll CL, Neff BA, Shepard NT, Eggers SD, Staab JP, Tombers NM, Goplen FK, Lund-Johansen M, Link MJ. Long-term dizziness handicap in patients with vestibular schwannoma: a multicenter cross-sectional study. Otolaryngol Head Neck Surg. 2014 Dec;151(6):1028-37. doi: 10.1177/0194599814551132. Epub 2014 Oct 1.

ReferenceCitation: Park CE, Park BJ, Lim YJ, Yeo SG. Functional outcomes in retrosigmoid approach microsurgery and gamma knife stereotactic radiosurgery in vestibular schwannoma. Eur Arch Otorhinolaryngol. 2011 Jul;268(7):955-9. doi: 10.1007/s00405-011-1596-9. Epub 2011 Apr 11. Review.

ReferenceCitation: Pollock BE, Driscoll CL, Foote RL, Link MJ, Gorman DA, Bauch CD, Mandrekar JN, Krecke KN, Johnson CH. Patient outcomes after vestibular schwannoma management: a prospective comparison of microsurgical resection and stereotactic radiosurgery. Neurosurgery. 2006 Jul;59(1):77-85; discussion 77-85.

ReferenceCitation: Coelho DH, Roland JT Jr, Rush SA, Narayana A, St Clair E, Chung W, Golfinos JG. Small vestibular schwannomas with no hearing: comparison of functional outcomes in stereotactic radiosurgery and microsurgery. Laryngoscope. 2008 Nov;118(11):1909-16. doi: 10.1097/MLG.0b013e31818226cb.

lead_sponsor: University Hospital, Grenoble

intervention_type: Radiation


title: Study of the Contribution of Osteopathic Treatment to Classic Medical Management in Patients With Chronic Low Back Pain

summary:
The management of chronic low back pain is now part of a multi-disciplinary set of proposals with the aim of adapting for each patient orientations of both medicated and non-medicated care.

Very classically, analgesic treatment of stage I or II is of use, reinforced by the occasional use of NSAIDs in the absence of contraindication. In this medical attempt of the control of the pain associates a physical care (supervised exercises, physiotherapy care), cognitive and behavioral therapy, multidisciplinary care.

Osteopathic treatment is a specific manual diagnostic and therapeutic procedure.

This study aims to evaluate the relevance of providing osteopathic treatment in combination with classical medical treatment in the management of patients with chronic non-specific low back pain.

lead_sponsor: Clinique Pasteur


title: Interest of Pleuropulmonary Ultrasound Associate With Clinical Examination to Check the Good Position of the Double Lumen Tube Intubation in Patients Undergoing Thoracic Surgery

acronym: Echo-Thorax

summary:
Using a new ultrasound approach, allow us to avoid the systematic use of bronchoscopy which is an invasive procedure. Although rare, several complications are known with, among other things, the occurrence of pulmonary infections, pneumothorax associated with increased pressure in the airways, atelectasis or bronchospasm.

Avoid the systematic control by fibroscopy in simple cases which makes it possible to overcome the complications related to its use and its cost.

The investigators want to evaluate the diagnostic value of the echographic strategy in 2 steps (2D and TM) on 3 sections (pulmonary field on the axillary line of the 2 sides and left upper lobe) associated with the clinical examination in preoperative by comparing with the gold standard: fibroscopy. Clinical examination and pleuropulmonary ultrasound should have a positive predictive value of at least 85%.

lead_sponsor: Association Pro-arte

intervention_type: Diagnostic Test

lead_sponsor_type: industriel


title: Is Transcutaneous Carbon Monoxide Saturation of E-cigarette Users Comparable to That of Smokers?

acronym: COVAP

summary:
Suspicions of carbon monoxide poisoning that lead to the treatment of victims are numerous. Measurement of transcutaneous carbon monoxide saturation (SpCO) is a useful diagnostic and triage tool for victims and the toxic threshold is clearly defined for both non-smokers (SpCO> 5%) and smokers ( SpCO> 10%).

Currently, the use of e-cigarettes is democratizing. Unfortunately, the threshold for toxic SpCO is not defined for this patient profile.

The risk is treating in excess or worse than underestimating carbon monoxide poisoning in e-cigarette users who would be exposed to carbon monoxide exposure.

lead_sponsor: University Hospital, Tours

location_facility: Adult Emergency Department, University Hospital, Tours


title: Use of BRASS in Sedated Critically-ill Patients as a Predictable Mortality Factor

acronym: BRASS-ICU

summary:
Sedation is used for 30 to 70 % of all intensive care unit (ICU) patients. Deep sedation can be used for lot of disease like acute respiratory distress syndrome, septic shock.

Deep sedation was defined by RASS (Richmond Assessment Sedation Scale) below -3.

Deep sedation can be associated with increased mortality, length stay, duration of mechanical ventilation, acute brain dysfunction.

The french exploration neurologic group in ICU developed a score used Brainstem response patterns in patient deeply sedated by midazolam and showed that a high BRASS score is associated with high mortality at day 28.

The investigators think that BRASS score isn't associated with the medication used for sedation.

In this study the investigators included all patients sedated independently of medication used for sedation, we also excluded patient with neurologic disorder.

The main objective is to shown that high BRASS score at admission of patient without neurologic disorder sedated is predictive of 28-day mortality.

ReferenceCitation: Legros V, Mourvillier B, Floch T, Candelier Q, Rosman J, Lafont B, Farkas JC, Bard M, Kanagaratnam L, Mateu P. Use of BRASS in sedated critically-ill patients as a predictable mortality factor: BRASS-ICU. Neurol Res. 2021 Apr;43(4):283-290. doi: 10.1080/01616412.2020.1849901. Epub 2020 Nov 19.

name: Surgical and Trauma Intensive Care Unit, University Hospital of Reims, Reims Cedex, France

name: University of Médecine, University of Reims Champagne-Ardenne, Reims Cedex, France

family: Legros

full_name: Vincent Legros

given: Vincent

name: Medical Intensive Care Unit, University Hospital of Reims, Reims Cedex, France

family: Mourvillier

full_name: Bruno Mourvillier

given: Bruno

family: Floch

full_name: Thierry Floch

given: Thierry

name: Anesthesiology and Critical Care, University Hospital of Reims, Reims Cedex, France

family: Candelier

full_name: Quentin Candelier

given: Quentin

name: Intensive Care Unit, General Hospital of Charleville-Mézières, Charleville-Mézières, France

family: Rosman

full_name: Jeremy Rosman

given: Jeremy

name: Intensive Care Unit, Private Clinic of Reims, Bezannes, France

family: Lafont

full_name: Bruno Lafont

family: Farkas

full_name: Jean-Christophe Farkas

given: Jean-Christophe

family: Bard

full_name: Mathieu Bard

given: Mathieu

name: Clinical Research Unit, University Hospital of Reims, Reims Cedex, France

family: Kanagaratnam

full_name: Lukshe Kanagaratnam

given: Lukshe

family: Mateu

full_name: Philippe Mateu

given: Philippe

journal_name: Neurological Research

publisher: Informa UK Limited

publisher_dissemination: Informa

publisher_group: Informa

publisher_normalized: Informa

lead_sponsor: CHU de Reims


title: Medical Imaging of the Musculoskeletal System Before and After Surgery for the Generation of Customized Biomechanical Models

summary: The objective of this study is to design a library of biomechanical musculoskeletal models of patients before and after surgery. These models will be evaluated to analyze the support they can provide for virtual surgical planning in orthopedics.

lead_sponsor: Centre d'Investigation Clinique et Technologique 805

intervention_type: Procedure


title: Monitoring of Fetal Lung Elasticity by Elastography Between 24 and 39 Weeks

acronym: ELASTOPULM

summary: The objective of the study is to evaluated the evolution of the LLE ratio (Lung to Liver Elastography ratio) during normal pregnancy

lead_sponsor: Centre Hospitalier Universitaire de Besancon


title: Improvement of Motivation for Physical Activity in an Institutionalized Geriatric Population Thanks to a Virtual Environment: Comparison of Motivation Between Classic Bike and Bike With Virtual Environment

acronym: Cyclepad Pilot

summary: The purpose of this study is to test the interest of a virtual environment with cycling to increase the motivation of physical activity practice in institutionalized older adults.

lead_sponsor: University Hospital, Caen


title: Prognostic Factors for Smoke Inhalation Injury in Patients Admitted to Intensive Care

acronym: fumeintox

summary:
Many Studies have shown that the smoke-inhalation injury is responsible for a high mortality mainly related to the systemic effects of carbon monoxide and cyanide. Respiratory lesions induced by smoke inhalation, is one of predictive factors of mortality.

The aim of the study is to identify the clinical and epidemiological characteristics of smoke-inhalation injury and to identify prognostic factors among these patients .

ReferenceCitation: You K, Yang HT, Kym D, Yoon J, HaejunYim, Cho YS, Hur J, Chun W, Kim JH. Inhalation injury in burn patients: establishing the link between diagnosis and prognosis. Burns. 2014 Dec;40(8):1470-5. doi: 10.1016/j.burns.2014.09.015. Epub 2014 Oct 16.

ReferenceCitation: Kim Y, Kym D, Hur J, Yoon J, Yim H, Cho YS, Chun W. Does inhalation injury predict mortality in burns patients or require redefinition? PLoS One. 2017 Sep 27;12(9):e0185195. doi: 10.1371/journal.pone.0185195. eCollection 2017.

ReferenceCitation: Darling GE, Keresteci MA, Ibañez D, Pugash RA, Peters WJ, Neligan PC. Pulmonary complications in inhalation injuries with associated cutaneous burn. J Trauma. 1996 Jan;40(1):83-9.

ReferenceCitation: Liao WC, Cheng WC, Wu BR, Chen WC, Chen CY, Chen CH, Tu CY, Hsia TC. Outcome and prognostic factors of patients treated in the intensive care unit for carbon monoxide poisoning. J Formos Med Assoc. 2019 Apr;118(4):821-827. doi: 10.1016/j.jfma.2018.09.005. Epub 2018 Oct 5.

ReferenceCitation: Raphael JC, Annane D, Chevret S. Hyperbaric oxygen for acute carbon monoxide poisoning. N Engl J Med. 2003 Feb 6;348(6):557-60; author reply 557-60.


title: Evaluation of a Telemedicine System for Patients Carried for Bariatric Surgery

acronym: Bartélémis

summary: This study is intended to study the feasibility of a telemedicine system to monitor and control certain vital parameters before and after surgery for obesity. During the preoperative preparation phase, weight, exercise, blood pressure and heart rate are recorded and transmitted to the patient's surgeon. In the immediate post operative period, the heart rate is a sensitive and reliable indicator of the occurrence of a complication. A telemetry system will allow rapid home return, continuous monitoring and early warning in the event of a problem. Prolonged follow-up identical to that started preoperatively should allow improvement and better control of weight loss by monitoring especially physical exercise.

primary_purpose: Supportive Care

ReferenceCitation: Loots E, Sartorius B, Paruk IM, Clarke DL. The Successful Implementation of a Modified Enhanced Recovery After Surgery (ERAS) Program for Bariatric Surgery in a South African Teaching Hospital. Surg Laparosc Endosc Percutan Tech. 2018 Feb;28(1):26-29. doi: 10.1097/SLE.0000000000000488.

ReferenceCitation: Lemanu DP, Singh PP, Berridge K, Burr M, Birch C, Babor R, MacCormick AD, Arroll B, Hill AG. Randomized clinical trial of enhanced recovery versus standard care after laparoscopic sleeve gastrectomy. Br J Surg. 2013 Mar;100(4):482-9. doi: 10.1002/bjs.9026. Epub 2013 Jan 21.

ReferenceCitation: Jonsson A, Lin E, Patel L, Patel AD, Stetler JL, Prayor-Patterson H, Singh A, Srinivasan JK, Sweeney JF, Davis SS Jr. Barriers to Enhanced Recovery after Surgery after Laparoscopic Sleeve Gastrectomy. J Am Coll Surg. 2018 Apr;226(4):605-613. doi: 10.1016/j.jamcollsurg.2017.12.028. Epub 2018 Jan 5.

ReferenceCitation: Aman MW, Stem M, Schweitzer MA, Magnuson TH, Lidor AO. Early hospital readmission after bariatric surgery. Surg Endosc. 2016 Jun;30(6):2231-8. doi: 10.1007/s00464-015-4483-4. Epub 2015 Oct 19.

ReferenceCitation: Kampmeijer R, Pavlova M, Tambor M, Golinowska S, Groot W. The use of e-health and m-health tools in health promotion and primary prevention among older adults: a systematic literature review. BMC Health Serv Res. 2016 Sep 5;16 Suppl 5:290. doi: 10.1186/s12913-016-1522-3. Review.

ReferenceCitation: Wang Y, Xue H, Huang Y, Huang L, Zhang D. A Systematic Review of Application and Effectiveness of mHealth Interventions for Obesity and Diabetes Treatment and Self-Management. Adv Nutr. 2017 May 15;8(3):449-462. doi: 10.3945/an.116.014100. Print 2017 May. Review.

ReferenceCitation: Chen SY, Stem M, Schweitzer MA, Magnuson TH, Lidor AO. Assessment of postdischarge complications after bariatric surgery: A National Surgical Quality Improvement Program analysis. Surgery. 2015 Sep;158(3):777-86. doi: 10.1016/j.surg.2015.04.028. Epub 2015 Jun 19.

ReferenceCitation: Montravers P, Augustin P, Zappella N, Dufour G, Arapis K, Chosidow D, Fournier P, Ribeiro-Parienti L, Marmuse JP, Desmard M. Diagnosis and management of the postoperative surgical and medical complications of bariatric surgery. Anaesth Crit Care Pain Med. 2015 Feb;34(1):45-52. doi: 10.1016/j.accpm.2014.06.002. Epub 2015 Mar 5. Review.

lead_sponsor: IHU Strasbourg

location_facility: Service de Chirurgie Digestive et Endocrinienne, NHC


title: Radiological Study of the Hemodynamic Changes in the Aorta and Its Branches Before and After Endovascular Treatment of the Aortic Dissection

summary:
Aortic dissection (AD) is a serious pathology affecting one person for 300 000 habitants per year. In case of complicated AD on the descending aorta, it is necessary to perform an endovascular surgery in association with medical treatment. An endoprosthesis is implanted on the descending thoracic aorta in order to close the main intimal tear. This closure lead to an increase in the thoracic true lumen diameter, a decrease in the thoracic false lumen diameter, a better perfusion of the aortic branches. Furthermore, even in case of open surgical treatment of the ascending aorta it can be necessary to perform an endovascular treatment on the descending aorta, either to prevent and treat aneurysmal evolution or to treat patent malperfusion syndrome.

CT and Magnetic Resonance angiography, by the realization of an aortic morphologic evaluation, are the two key imaging exams in the DA. Nevertheless, CT can't provide aortic dynamic evaluation, contrary to MRI. This exam, thanks to the phase-contrast sequence can measure velocity and flow data in vessels, including aorta but also true and false lumen in the AD. Thus, by verifying the perfusion of the aortic true lumen and the aortic branches it is possible to perform an early evaluation of the endovascular treatment of the DA.

Actually, only one study has realized an aortic dynamic evaluation on the AD, unfortunately this study was limited to non-operated patients.

In order to assess the place of MRI in the AD, the ingestigation propose to determine if phase-contrast MRI is able to evaluate the impact of the endovascular treatment on the hemodynamic state of the aorta and its branches.

lead_sponsor: Hospices Civils de Lyon


title: Association Between Hidradenitis Suppurativa and Spondyloarthritis

acronym: VESPA

summary:
Hidradenitis suppurativa is a chronic dermatosis, characterized by an inflammation of the follicular epithelium in the apocrine glands.

The hypothesis of a link between hidradenitis suppurativa and inflammatory rheumatism has been widely considered, with evidence in support of this theory accumulating from several case reports and small series. The most frequently cited rheumatismal disease thought to be associated with Hidradenitis suppurativa is spondyloarthritis.

Taken together, these data suggest that there may a link between hidradenitis suppurativa and spondyloarthritis, but literature data are sparse, and to date, no study has investigated or demonstrated such a relation. Indeed, existing studies to date were observational, descriptive, and retrospective, and did not use modern diagnostic approaches for documenting spondyloarthritis, such as magnetic resonance imaging (MRI) or the recent classification of spondyloarthritis.

ReferenceCitation: Fauconier M, Reguiai Z, Barbe C, Colosio A, Eschard JP, Salmon JH, Direz G. Association between hidradenitis suppurativa and spondyloarthritis. Joint Bone Spine. 2018 Oct;85(5):593-597. doi: 10.1016/j.jbspin.2017.09.005. Epub 2017 Sep 28.


title: Feasibility Study of a Post-hospitalization Self-rehabilitation Program for Elderly Suffering of Sarcopenia

acronym: FREESARC

summary:
Loss of autonomy among elderly during and after hospitalisation is a well-known problem. Patient suffering of sarcopenia (decreasing in muscle mass and function) are more likely not to recover their previous autonomy.

Studies have shown that physical exercise, especially resistance exercises, is the most efficient known treatment of sarcopenia. Several institution-based rehabilitation programs had been implemented in this purpose.

On the other hand, some studies have shown that home-based self-rehabilitation can be as efficient as institution-based rehabilitation, for example in stroke, cardiac failure and COPD rehabilitation.

The investigators propose to set up a home-based self-rehabilitation program to fight against sarcopenia and hence increasing autonomy among elderly. This study aimed to establish the feasibility of such a program.

lead_sponsor: Institut Mutualiste Montsouris

intervention_type: Behavioral


title: Multicentric, Parallel, Randomized, Double Blind Study Under Dermatological Control to Evaluate the Anti-acne Efficacy of a Dermo-cosmetic Product (Fla 688977 33) Associated With the Fixed Combination Adapalene 0.1%/ Benzoyl Peroxide 2.5% Treatment Versus This Treatment Associated With a Standard Moisturizer (Hydréane légère, Cosmétique Active International) During a 12-week Application Period in Male and Female Subjects Presenting With Mild to Moderate Acne

summary:
Study to evaluate the anti-acne efficacy of a dermo-cosmetic associated with the fixed combination Adapalene 0.1%/ benzoyl peroxide 2.5% treatment and to demonstrate that the dermo-cosmetic product can improve the local tolerance of the fixed combination Adapalene 0.1%/ benzoyl peroxide 2.5% treatment

Multi centre, Randomised, Double blind, Controlled, Parallel (100 subjects per arm), Intra-subject & inter subject comparisons

ReferenceCitation: Bouloc A, Roo E, Imko-Walczuk B, Moga A, Chadoutaud B, Dréno B. A skincare combined with combination of adapalene and benzoyl peroxide provides a significant adjunctive efficacy and local tolerance benefit in adult women with mild acne. J Eur Acad Dermatol Venereol. 2017 Oct;31(10):1727-1731. doi: 10.1111/jdv.14379. Epub 2017 Jul 7.

name: Vichy Laboratoires; Asnières sur Seine France

family: Bouloc

full_name: A. Bouloc

given: A.

name: Department of Dermatology; Hospital Sur; Madrid Spain

family: Roo

full_name: E. Roo

given: E.

name: Dermatology Clinic Copernicus- Podmiot Leczniczy; Gdansk Poland

family: Imko-Walczuk

full_name: B. Imko-Walczuk

given: B.

family: Moga

full_name: A. Moga

family: Chadoutaud

full_name: B. Chadoutaud

name: Department of Dermato-Cancerology; Hôtel Dieu; Nantes France

family: Dréno

full_name: B. Dréno

journal_name: Journal of the European Academy of Dermatology and Venereology

oa_colors: green hybrid

oa_host_type: publisher;repository

evidence: open (via crossref license)

host_type: publisher

license: cc-by-nc-nd

license_normalized: cc-by-nc-nd

version: publishedVersion

evidence: oa repository (via OAI-PMH doi match)

host_type: repository

repository_institution: PubMed Central - Europe PMC

repository_normalized: PubMed Central

evidence: oa repository (via pmcid lookup)

license_normalized: no license

ReferenceCitation: Muguet Guenot L, Vourc'h Jourdain M, Saint-Jean M, Corvec S, Gaultier A, Khammari A, Le Moigne M, Boisrobert A, Paugam C, Dréno B. Confocal microscopy in adult women with acne. Int J Dermatol. 2018 Mar;57(3):278-283. doi: 10.1111/ijd.13910. Epub 2018 Jan 25.

name: Dermatology Department; CIC 1413; CRCINA Inserm 1232; CHU Nantes; Nantes France

family: Muguet Guenot

full_name: Louise Muguet Guenot

given: Louise

family: Vourc'h Jourdain

full_name: Morgane Vourc'h Jourdain

given: Morgane

family: Saint-Jean

full_name: Mélanie Saint-Jean

given: Mélanie

name: Bacteriology Department; CRCINA Inserm 1232; CHU Nantes; Nantes France

family: Corvec

full_name: Stéphane Corvec

given: Stéphane

name: PIMESP-SEB; Hôpital Saint Jacques; CRCINA Inserm 1232; CHU Nantes; Nantes France

family: Gaultier

full_name: Aurélie Gaultier

given: Aurélie

family: Khammari

full_name: Amir Khammari

given: Amir

family: Le Moigne

full_name: Marie Le Moigne

given: Marie

family: Boisrobert

full_name: Aurélie Boisrobert

family: Paugam

full_name: Charlotte Paugam

given: Charlotte

full_name: Brigitte Dréno

given: Brigitte

ReferenceCitation: Gollnick HP, Bettoli V, Lambert J, Araviiskaia E, Binic I, Dessinioti C, Galadari I, Ganceviciene R, Ilter N, Kaegi M, Kemeny L, López-Estebaranz JL, Massa A, Oprica C, Sinclair W, Szepietowski JC, Dréno B. A consensus-based practical and daily guide for the treatment of acne patients. J Eur Acad Dermatol Venereol. 2016 Sep;30(9):1480-90. doi: 10.1111/jdv.13675. Epub 2016 May 14.

name: Department of Dermatology & Venereology; Otto-von-Guericke University Magdeburg; Magdeburg Germany

name: Department of Clinical and Experimental Medicine; O.U. of Dermatology; Azienda Ospedaliero-Universitaria; University of Ferrara; Ferrara Italy

name: Department of Dermatology; University Hospital of Antwerp; University of Antwerp; Edegem Belgium

name: Department of Dermatology and Venereal Diseases; First I. P. Pavlov State Medical University of St. Petersburg; St. Petersburg Russia

name: Department of Dermatovenerology; Faculty of Medicine; University of Nis; Nis Serbia

name: Department of Dermatology; A. Syggros Hospital; University of Athens; Athens Greece

name: School of Medicine; United Arab Emirates University; Al-Ain United Arab Emirates

name: Clinic of Infectious, Chest Diseases, Dermatovenereology and Allergology; Vilnius University;  Vilnius Lithuania

name: Department of Dermatology; Gazi University Medical School; Ankara Turkey

name: Department of Dermatology and Allergology University of Szeged; Szeged Hungary

name: Hospital Universitario Fundación Alcorcón; Madrid Spain

name: Clínica Dermatológica Dr António Massa; Porto Portugal

name: Department of Laboratory Medicine; Karolinska Institutet Karolinska University Hospital Huddinge; Stockholm Sweden

name: Department of Dermatology; Faculty of Health Sciences; University of the Free State; Bloemfontein South Africa

name: Department of Dermatology, Venereology and Allergology; Wroclaw Medical University; Wroclaw Poland

name: Department of Dermato-Cancerology; University of Nantes; Nantes France

ReferenceCitation: Nast A, Dréno B, Bettoli V, Bukvic Mokos Z, Degitz K, Dressler C, Finlay AY, Haedersdal M, Lambert J, Layton A, Lomholt HB, López-Estebaranz JL, Ochsendorf F, Oprica C, Rosumeck S, Simonart T, Werner RN, Gollnick H. European evidence-based (S3) guideline for the treatment of acne - update 2016 - short version. J Eur Acad Dermatol Venereol. 2016 Aug;30(8):1261-8. doi: 10.1111/jdv.13776.

name: Division of Evidence-Based Medicine; Klinik für Dermatologie; Charité - Universitätsmedizin Berlin; Berlin Germany

name: Department of Dermatocancerolgy; Nantes University Hospital; Hôtel-Dieu; Nantes France

name: Department of Clinical and Experimental Medicine; Section of Dermatology; University of Ferrara; Ferrara Italy

name: Department of Dermatology; School of Medicine University of Zagreb; Zagreb Croatia

name: Department of Dermatology and Wound Healing; Cardiff University School of Medicine; Cardiff UK

name: Department of Dermatology; Bispebjerg Hospital; University of Copenhagen; Copenhagen Denmark

name: University Hospital of Antwerp; University of Antwerp; Antwerp Belgium

name: Department of Dermatology; Harrogate and District Foundation Trust; Harrogate North Yorkshire UK

name: Dermatology Department; Alcorcon University Hospital Foundation; Alcorcón Madrid Spain

name: Department of Dermatology and Venereology; University of Frankfurt; Frankfurt Germany

name: Department of Laboratory Medicine; Karolinska Institutet; Karolinska University Hospital Huddinge and Diagnostiskt Centrum Hud; Stockholm Sweden

name: Department of Dermatology and Venereology; University of Magdeburg; Magdeburg Germany

repository_institution: Cardiff University - ORCA Online Research @Cardiff

ReferenceCitation: Zaenglein AL, Pathy AL, Schlosser BJ, Alikhan A, Baldwin HE, Berson DS, Bowe WP, Graber EM, Harper JC, Kang S, Keri JE, Leyden JJ, Reynolds RV, Silverberg NB, Stein Gold LF, Tollefson MM, Weiss JS, Dolan NC, Sagan AA, Stern M, Boyer KM, Bhushan R. Guidelines of care for the management of acne vulgaris. J Am Acad Dermatol. 2016 May;74(5):945-73.e33. doi: 10.1016/j.jaad.2015.12.037. Epub 2016 Feb 17. Review. Erratum in: J Am Acad Dermatol. 2020 Jun;82(6):1576.

journal_name: Journal of the American Academy of Dermatology


title: Prognostic of Annexin Imaging in Dissection of the Descending Aorta

acronym: PAIDDA

summary: The relationship between the presence of a partial thrombus and aortic dilation after type B dissection has recently been reported. The originality lies in the idea of imaging thrombus activity to predict dilation after type B dissection. The innovative character is based on the use of annexin scintigraphy.

status: Not yet recruiting

location_facility: Service de Cardiologie - Hôpital Bichat Claude Bernard


title: Preoperative Evaluation of Neurogenic Myositis Ossificans or Neurogenic Para-osteo-arthritis: Comparison Between Computed Tomography and Magnetic Resonance Imaging in Preoperative Evaluation

acronym: MON-IRM

summary:
The principal objective of the study is to compare between CT and MRI diagnostic performance (sensibility and specificity) in the preoperative assessment of neurogenic para-osteo-arthritis.

The second objectives of the study are:

besides the diagnostic performance (sensibility and specificity), to evaluate the imaging par MRI in visual and descriptive manner heterotopic ossification and connection with vascular and nervous structures.
to study the concordance (two by two) of results of preoperative obtained by MRI and by CT and operative reports.
to study the characteristics of patients with discordant findings (two by two) by MRI, CT scan and operative report.

location_facility: Service d'Imagerie médicale, Hôpital Raymond Poincaré


title: Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies

acronym: MITOPSY

summary:
The major steps forward of the neurosciences in recent years have linked psychiatric diseases, neuropsychological symptoms and brain dysfunctions. The cerebral functioning requiring a big quantity of energy, mitochondria, essential organelles in the cellular energy processes, are at present considered as a way of research for big interest in neurology and in psychiatry. Thus, an increasing number of studies describe potential links between mitochondrial dysfunction and psychiatric symptomatology. The clinical symptomatology of children with mitochondrial cytopathy is varied. Well described neurologically and somatically, it is significantly less in its psychiatric aspects. However, psychiatric symptoms are frequently associated and this symptom has already been described in adult patients. The symptoms mainly include depressive and anxiety disorders, or even tables suggestive of psychotic disorders, which would precede the diagnosis of mitochondrial disease of 13 years on average.

Neuropsychological disorders refer to disorders of the higher functions following a cerebral anomaly (language, praxis, motricity, gnosis, visual spatial processing, memory, attention, intelligence, executive functions ...). Tests validated in French and adapted to children and adolescents can identify neuropsychological disorders in these populations.

lead_sponsor: University Hospital, Angers


title: Frequency and Characteristics of Pruritus in Patients With Monoclonal Gammopathy

acronym: PRURIGAMMA

summary:
Pruritus is most often secondary to dermatitis but can also occur without skin lesions, it is called pruritus sine materia. The causes of pruritus sine materia are various: haematological (myeloproliferative neoplasia ...), hepatic (cholestasis ...), renal (chronic renal failure, dialysis), endocrine (iron deficiency ...), secondary to drug intake ... or idiopathic when no cause is found.

Gammapathies are among the causes of pruritus sine materia, and as such electrophoresis of serum proteins is usually part of the pruritus assessment to look for monoclonal gammopathy (MGUS, multiple myeloma, Waldenström disease). However, there is very little data on the frequency of pruritus in patients with monoclonal gammopathy and the characteristics of this pruritus. So the aim of this study is to compare the frequency of pruritus between patients with monoclonal gammapathy and controls

ipd_sharing: Yes

ipd_sharing_description: All collected data that underlie results in a publication

lead_sponsor: University Hospital, Brest


title: Contribution of Pre-hospital Blood Lactate Level for Pre-hospital Orientation of Septic Shock

acronym: LAPHSUS

summary:
In the pre-hospital setting, the severity assessment of septic shock is essential to decide the optimal initial in-hospital level of care. As clinical signs can be faulted, there is a need for an additional element in order to enhance the severity assessment and to decide in-hospital admission in the intensive care unit (ICU) or in the emergency department (ED). Point of care medical device yielding blood lactate levels since the pre-hospital setting may give an easy and valuable element for the severity assessment and the decision-making.

The aim of this study is to provide clinical evidence that the pre-hospital blood lactate level predicts the 30-day mortality of patients with septic shock.

ReferenceCitation: Marecaux G, Pinsky MR, Dupont E, Kahn RJ, Vincent JL. Blood lactate levels are better prognostic indicators than TNF and IL-6 levels in patients with septic shock. Intensive Care Med. 1996 May;22(5):404-8.

ReferenceCitation: Bakker J, Coffernils M, Leon M, Gris P, Vincent JL. Blood lactate levels are superior to oxygen-derived variables in predicting outcome in human septic shock. Chest. 1991 Apr;99(4):956-62.

ReferenceCitation: Cicarelli DD, Vieira JE, Benseñor FE. [Lactate as a predictor of mortality and multiple organ failure in patients with the systemic inflammatory response syndrome.]. Rev Bras Anestesiol. 2007 Dec;57(6):630-8. Portuguese.

ReferenceCitation: Gaieski DF, Goyal M. Serum lactate as a predictor of mortality in emergency department patients with infection: does the lactate level tell the whole story? Ann Emerg Med. 2005 Dec;46(6):561-2; author reply 562.

ReferenceCitation: Mikkelsen ME, Miltiades AN, Gaieski DF, Goyal M, Fuchs BD, Shah CV, Bellamy SL, Christie JD. Serum lactate is associated with mortality in severe sepsis independent of organ failure and shock. Crit Care Med. 2009 May;37(5):1670-7. doi: 10.1097/CCM.0b013e31819fcf68.

ReferenceCitation: Shapiro NI, Howell MD, Talmor D, Nathanson LA, Lisbon A, Wolfe RE, Weiss JW. Serum lactate as a predictor of mortality in emergency department patients with infection. Ann Emerg Med. 2005 May;45(5):524-8.

ReferenceCitation: Arnold RC, Shapiro NI, Jones AE, Schorr C, Pope J, Casner E, Parrillo JE, Dellinger RP, Trzeciak S; Emergency Medicine Shock Research Network (EMShockNet) Investigators. Multicenter study of early lactate clearance as a determinant of survival in patients with presumed sepsis. Shock. 2009 Jul;32(1):35-9.

lead_sponsor: Hôpital Necker-Enfants Malades


title: Prevalence of Migraine in Infertile Women and Evolution During in Vitro Fertilization (IVF)

acronym: FERTIMIG

summary: The purpose of this study is to determine the prevalence of migraine in infertile women and during in Vitro Fertilization protocol. Migraine is two to three times as common in women as in men. Migraine has considerable impact on quality of life. In Vitro Fertilization has become a common therapeutic modality in modern fertility medicines. Treatment protocols are associated with exaggerated hormonal fluctuations. Estrogen is considered to be closely linked to migraine and its fluctuations have been considered to trigger migrainous headaches.


title: Constitution of ex Vivo Ovarian Tumor Models for the Validation of the Interest of Innovative Therapies and the Search for Tumor or Circulating Biomarkers Predictive of Treatment Response

acronym: OVAREX

summary: Development of ex vivo models of ovarian cancer, fallopian tubes or peritoneum.

lead_sponsor: Centre Francois Baclesse

intervention_type: Genetic


title: Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit

acronym: REUNIR

summary:
An early diagnosis of congenital malformations and suspected genetic conditions in critically ill infants is essential to perform specific adapted care, prevention, and give proper genetic counseling. However, etiologies are various and each of them is individually very rare. Thanks to next-generation sequencing technologies, diagnosis time frames have drastically decreased and the investigators have observed an increase in diagnosis yields.

This study aims to evaluate the feasibility of fast trio exome sequencing (less than 16 days between informed consent signature and the consultation for results to the parents) in infants under the age of 12 months hospitalized in Intensive Care Unit (ICU).

ReferenceCitation: Açikalin A, Bağir EK, Torun G, Ateş BT, Erdoğan S, Uğuz A, Ergın M, Büyükkurt S, Ozgünen FT, Tunali N, Gümürdülü D. Perinatal autopsy evaluation of 2150 autopsies in the Çukurova region of Turkey. Turk Patoloji Derg. 2014;30(3):189-94. doi: 10.5146/tjpath.2014.01266.

ReferenceCitation: Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic disorders in children and young adults: a population study. Am J Hum Genet. 1988 May;42(5):677-93.

ReferenceCitation: Bonnet D. [Genetics of congenital heart diseases]. Presse Med. 2017 Jun;46(6 Pt 1):612-619. doi: 10.1016/j.lpm.2017.05.014. Epub 2017 Jun 2. Review. French.

ReferenceCitation: Dhiman V. Molecular Genetics of Epilepsy: A Clinician's Perspective. Ann Indian Acad Neurol. 2017 Apr-Jun;20(2):96-102. doi: 10.4103/aian.AIAN_447_16. Review.

ReferenceCitation: Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13.

ReferenceCitation: Hack M, Taylor HG, Drotar D, Schluchter M, Cartar L, Andreias L, Wilson-Costello D, Klein N. Chronic conditions, functional limitations, and special health care needs of school-aged children born with extremely low-birth-weight in the 1990s. JAMA. 2005 Jul 20;294(3):318-25.

ReferenceCitation: McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet. 2004 Jan;74(1):121-7. Epub 2003 Dec 12. Erratum in: Am J Hum Genet. 2004 Apr;74(4):788.

ReferenceCitation: Musante L, Ropers HH. Genetics of recessive cognitive disorders. Trends Genet. 2014 Jan;30(1):32-9. doi: 10.1016/j.tig.2013.09.008. Epub 2013 Oct 28. Review.

ReferenceCitation: Pabinger S, Dander A, Fischer M, Snajder R, Sperk M, Efremova M, Krabichler B, Speicher MR, Zschocke J, Trajanoski Z. A survey of tools for variant analysis of next-generation genome sequencing data. Brief Bioinform. 2014 Mar;15(2):256-78. doi: 10.1093/bib/bbs086. Epub 2013 Jan 21.

ReferenceCitation: Packer JS, Maxwell EK, O'Dushlaine C, Lopez AE, Dewey FE, Chernomorsky R, Baras A, Overton JD, Habegger L, Reid JG. CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data. Bioinformatics. 2016 Jan 1;32(1):133-5. doi: 10.1093/bioinformatics/btv547. Epub 2015 Sep 17.

ReferenceCitation: Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

ReferenceCitation: Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, Jordan T, Shakir K, Roazen D, Thibault J, Banks E, Garimella KV, Altshuler D, Gabriel S, DePristo MA. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33. doi: 10.1002/0471250953.bi1110s43.

ReferenceCitation: Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016 Jan;17(1):9-18. doi: 10.1038/nrg3999. Epub 2015 Oct 27. Review.

ReferenceCitation: Zlotogora J, Shalev SA. The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations. Am J Med Genet A. 2010 Aug;152A(8):2023-8. doi: 10.1002/ajmg.a.33537.

ReferenceCitation: Cunniff C, Carmack JL, Kirby RS, Fiser DH. Contribution of heritable disorders to mortality in the pediatric intensive care unit. Pediatrics. 1995 May;95(5):678-81.

ReferenceCitation: FitzPatrick DR, Skeoch CH, Tolmie JL. Genetic aspects of admissions to a paediatric intensive care unit. Arch Dis Child. 1991 May;66(5):639-41.

ReferenceCitation: Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228. Review.

family: Gilissen

full_name: Christian Gilissen

given: Christian

family: Hoischen

full_name: Alexander Hoischen

given: Alexander

family: Brunner

full_name: Han G Brunner

given: Han G

family: Veltman

full_name: Joris A Veltman

given: Joris A

bso_classification: Biology (fond.)

journal_name: Genome Biology

evidence: open (via free pdf)

license: implied-oa

license_normalized: implied-oa

evidence: oa repository (via OAI-PMH title and first author match)

repository_institution: DANS - Data Archiving and Networked Services - NARCIS - National Academic Research and Collaborations Information System

repository_institution: Radboud University - Radboud Repository

publisher: Springer Science and Business Media LLC

publisher_dissemination: Springer

publisher_group: Springer

publisher_normalized: Springer

title: Unlocking Mendelian disease using exome sequencing

ReferenceCitation: Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S; RCIGM Investigators. Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5). pii: a001966. doi: 10.1101/mcs.a001966. Print 2017 Sep.

family: Hildreth

full_name: Amber Hildreth

given: Amber

family: Wigby

full_name: Kristen Wigby

given: Kristen

family: Chowdhury

full_name: Shimul Chowdhury

given: Shimul

family: Nahas

full_name: Shareef Nahas

given: Shareef

family: Barea

full_name: Jaime Barea

given: Jaime

family: Ordonez

full_name: Paulina Ordonez

given: Paulina

family: Batalov

title: Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann–Pick type C1 disease in a 7-week-old male with cholestasis

ReferenceCitation: Kingsmore SF, Petrikin J, Willig LK, Guest E. Emergency medical genomes: a breakthrough application of precision medicine. Genome Med. 2015 Jul 30;7(1):82. doi: 10.1186/s13073-015-0201-z. eCollection 2015.

ReferenceCitation: Lalani SR. Current Genetic Testing Tools in Neonatal Medicine. Pediatr Neonatol. 2017 Apr;58(2):111-121. doi: 10.1016/j.pedneo.2016.07.002. Epub 2016 Sep 28. Review.

title: Current Genetic Testing Tools in Neonatal Medicine

ReferenceCitation: Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

name: Institute for Digital Research and Education, University of California, Los Angeles

name: Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles

name: Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles

name: Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles7Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles

name: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles3Department of Pediatrics, David Geffen

name: Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles3Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Geffen School of Medicine

name: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles2Clinical Genomics Center, David Geffen School of Medicine, University of California, Los Angeles6Department of Human Genetics, David Ge

title: Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

ReferenceCitation: Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole genome sequencing and precision neonatology. Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Review.

repository_institution: University of North Carolina at Chapel Hill - Carolina Digital Repository

ReferenceCitation: Reardon S. Fast genetic sequencing saves newborn lives. Nature. 2014 Oct 2;514(7520):13-4. doi: 10.1038/514013a.

title: Fast genetic sequencing saves newborn lives

ReferenceCitation: Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.

publisher: American Association for the Advancement of Science (AAAS)

publisher_dissemination: American Association for the Advancement of Science

publisher_group: American Association for the Advancement of Science

publisher_normalized: American Association for the Advancement of Science

title: Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

ReferenceCitation: Smith LD, Willig LK, Kingsmore SF. Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Dec 18;6(2):a023168. doi: 10.1101/cshperspect.a023168. Review.

journal_name: Cold Spring Harbor Perspectives in Medicine

ReferenceCitation: Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.

ReferenceCitation: Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet. 2016 Jun;89(6):700-7. doi: 10.1111/cge.12732. Epub 2016 Apr 26.

name: Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD); Centre Hospitalier Universitaire Dijon; Dijon France

name: Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est; Centre Hospitalier Universitaire Dijon; Dijon France

name: Equipe d'Accueil 4271, Génétique des Anomalies du Développement; Université de Bourgogne; Dijon France

name: Service de Médecine Infantile 1, Centre de Référence des Maladies Héréditaires du Métabolisme; Centre Hospitalier Universitaire Brabois-Enfants; Vandœuvre-lès-Nancy France

name: Centre de génétique, Hôpital de Hautepierre; CHRU de Strasbourg; Strasbourg France

name: Service de Pédiatrie 1; Centre Hospitalier Universitaire Dijon; Dijon France

name: Laboratoire de Génétique Chromosomique et Moléculaire, Plateau Technique de Biologie; Centre Hospitalier Universitaire Dijon; Dijon France

ReferenceCitation: Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27.

ReferenceCitation: Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

title: Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders


title: Benefit of Singing in the Care of Premature Children Undergoing Screening for Retinopathy of Prematurity in the Neonatology and Neonatal Resuscitation Unit of the Dijon University Hospital

acronym: Voix Chantée

summary:
As part of the regular procedure for premature births, premature infants undergo several screening examinations, including an examination of the fundus. This examination seeks to establish whether the infant has retinopathy of prematurity. This disease affects the vessels of the retina of the eye, especially in prematurely born children, and can lead to serious complications such as blindness if it is not treated in time.

The purpose of this study is to assess the discomfort caused by the screening in order to improve practices. To do this, the investigators would like to evaluate whether soft auditory stimulation, more precisely a person singing, would improve the children's level of comfort during the examination.

To do this, the participating children will be divided into 2 groups:

The "Singing" group will receive the usual comfort treatments (placed in a 'nest', pacifier and sugar water) and a trained professional will sing a lullaby or nursery rhyme at the same time
control group will receive the usual comfort care (placed in a 'nest', pacifier and sugar water) The child's head and entire body will be filmed, which will allow an evaluator to assess the child's comfort.

lead_sponsor: Centre Hospitalier Universitaire Dijon


title: Impact of Cooking Education and Adapted Physical Activity on Nutritional Status and Quality of Life of Patients Treated by Allo Stem Cell Transplantation

acronym: NUTRITION

summary: Majority of patients after allo stem cell transplantation have malnutrition and decrease of physical activities. This state impacts on quality of life and on outcome of some complications like infections, graft versus host disease and could decrease the overall survival. In this study, the investigators propose cooking education and adapted physical activity to improve that. Cooking education and adapted physical activity at home will be performed by two famous chefs for the first one and by a sportive coach for the second every twice week.

primary_purpose: Prevention

lead_sponsor: Centre Hospitalier Universitaire de Nice


title: Decrease of Post-operative Complications by SCVO2 Monitoring an Optimisation of Cardiac Flow : Multicentric Randomized Control in Single Blind Study

summary: In operating theater, one of the bigger purpose of anesthetist-resuscitator is to optimize vascular filling (VF) because of a failure or an excess of filling is deleterious for the patient. Several studies have assessed the traditionnal VF based on the clinic and the VF guided by quantitative critereas. Thus studies have showed a decrease of morbidity and duration of patients' stay whose the VF was guided even on the long term. So, formal recommandations of experts (FRE) on the perioperative filling strategy of the SFAR ( Anesthesia and Resuscitation Francophone Society) advise to titrate the perioperative vascular filling of high risk patients guiding on a mesure of end-systolic volume (ESV). The inscrease of ESV answering to filling confirmed the VF realized is relevant and authorized its pursuite while the absence of an increase of the ESV after a filling test signifies the useless and deleterious character of this one. The optimization of perioperative hemodynamics consists in adapting the patient's cardiac output to his metabolic needs. ETO, Swan-Ganz: limit of its application to the routine. The central venous oxygen saturation (ScvO2) is simple and safe, the evaluation of the adjustment of O2 inputs compared to the needs. The industry has developed continuous monitoring systems by reflection spectrophotometry using optical fibers installed in the central venous pathways. In daily practice, the stricto sensu application of FRE leads to administering an VF up to the limit of the preload dependence without evaluating the adequacy of the cardiac output, which is not a physiological situation. This filling is therefore sometimes performed solely on the criteria of preload dependence while it is potentially deleterious for the patient. No study has compared a strategy based on the use of ScvO2 and preload dependence with current recommendations based solely on preload dependence. Our hypothesis is that the continuous monitoring of the ScvO2 in the superior cave territory in intraoperative would allow to detect the patients with an inadequacy of the cardiac output and thus to select the only ones requiring a vascular filling. This would reduce postoperative complications related to overfilling, without exposing the patient to episodes of tissue hypoperfusion.

lead_sponsor: Assistance Publique Hopitaux De Marseille


title: Initial Nutritional Strategy and Stature-level Growth During the Neonatal Period of Children Born Moderately Premature: Cohort EPIPAGE 2

summary:
The growth and nutrition of premature infants during the neonatal period is a concern of neonatology services; it impacts the child's health in the short and long term. The weight deficit, but especially the weak growth of the cranial perimeter during the Neonatal period is associated with an increased risk of long-term neuro-cognitive impairment.

The optimal nutritional strategy, during the neonatal period, of children born moderately premature is not known.

The optimization of nutrition in premature children is therefore a topical issue in neonatology.

Our project aims to evaluate the impact of an aggressive early nutritional strategy characterized by optimized caloric and protein intakes on the stature-level growth of 2000 children born moderately premature GA from 30 WA (week of amenorrhea) to 32 WA + 6 days and included in the national cohort of follow-up of children of small gestational ages.

Nutritional intake during the first week of life will be analyzed in tertile. Children will be grouped according to their calorie and protein during the first week of life. The tertile 1 will represent the group of children with the lowest nutritional intake (called the "nutrition not aggressive "), the tertile 3 will define the group of children presenting the contributions highest nutritional levels (called the "aggressive nutrition" group).

The primary endpoint will be the z-score change in weight, height and head circumference between birth and age (36 adjusted age WA) between the "nonaggressive nutrition" group and the group. "Aggressive nutrition".

The benefits are for public health to harmonize neonatal care practices within a region and to better understand the impact of nutritional strategies on long-term neuro-cognitive development.

location_facility: Assistance Publique Des Hopitaux de Marseille


title: Cognitive and Behavioral Therapy of Anxiety in Williams Syndrome

acronym: WILL-COPE

summary: Patients with Williams-Beuren syndrome are eight times more likely to suffer from anxiety compared to the general population. Few therapeutic solutions are proposed to these patients. The objective of this research is to validate a cognitive and behavioral therapy anxiety protocol for patients with this syndrome.

ReferenceCitation: Vereenooghe L, Langdon PE. Psychological therapies for people with intellectual disabilities: a systematic review and meta-analysis. Res Dev Disabil. 2013 Nov;34(11):4085-102. doi: 10.1016/j.ridd.2013.08.030. Epub 2013 Sep 18. Review.

ReferenceCitation: Royston R, Howlin P, Waite J, Oliver C. Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis. J Autism Dev Disord. 2017 Dec;47(12):3765-3777. doi: 10.1007/s10803-016-2909-z. Review.

ReferenceCitation: Unwin G, Tsimopoulou I, Kroese BS, Azmi S. Effectiveness of cognitive behavioural therapy (CBT) programmes for anxiety or depression in adults with intellectual disabilities: A review of the literature. Res Dev Disabil. 2016 Apr-May;51-52:60-75. doi: 10.1016/j.ridd.2015.12.010. Epub 2016 Jan 22. Review.

lead_sponsor: University Hospital, Montpellier


title: Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD

acronym: GEPHIRD

summary:
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.

The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).

lead_sponsor: Fondation Ophtalmologique Adolphe de Rothschild

location_facility: Fondation ophtalmologique Adolphe de Rothschild


title: Transcranius : Junior Emergency Physician Learning Curve to Perform Transcranial Doppler on Brain-damage Patients

acronym: Transcranius

summary: Transcranial Doppler is a noninvasive tool. Using velocity measurements and pulsatility index it allows the evaluation of cerebral haemodynamics. In patients presenting brain injury cerebral perfusion may be impaired. Indirect cerebral blood flow can be monitored and risk of neurological worsening can be detected using transcranial Doppler. Education and performance of emergency physicians must be evaluated on brain-injured patients because this tool is operator dependent. The main objective of this study is to estimate the average number of exams required to learn transcranial Doppler within junior emergency physicians with the achievement of their learning curve. We will perform a prospective, monocentric, observational study within the neurosurgical resuscitation department of Grenoble Alpes University Hospital.

lead_sponsor: University Hospital, Grenoble


title: Identification of Respiratory Stability Mechanisms During Skin-to-skin Care in Premature Infants in the Neonatal Intensive Care Unit: Infant-parent Vegetative Functions Coupling

acronym: PO-A-PO-PREMA

summary: The main purpose of this study is to identify and to determine the involvement of cardio-respiratory coordination mechanisms during SSC between the preterm infant and his (her) parent.

lead_sponsor: Centre Hospitalier Universitaire, Amiens


title: "Prospective Study Evaluating the Impact and Treatment of Thrombo-embolic Events in Patients With Cancer"

acronym: THEO

summary:
The overall incidence of deep vein thrombosis (DVT) and pulmonary embolism (PE) is 1 per 200 cancer patients, about 5 times higher than in the general population.

These events are of crucial importance, since nearly 10% of cancer patients died from thromboembolic events (EVT), making them the second leading cause of death in this population.

In hospitalized patients, the rate seems to have increase between 1979 and 1990 from 0.6% - 2% before 1990 to 4% since 1990.

Thrombotic risk in cancer patients is known and identified. Thrombotic complications affect the survival and quality of life of cancer patients.

Chemotherapy is a regular generator of cytopenia, the most prominent of which is thrombocytopenia. In addition, a prospective study of 107 cancer patients in our institution shows that almost 40% of patients over 65 years of age take anticoagulant or antiplatelet therapy.

In this specific population (i.e., with cancer and hypocoagulability), the occurrence of thrombosis poses particular problems. The prevalence and incidence of venous thrombosis in this situation is unknown and the behavior to be poorly specified.

Based on these considerations, The investigator propose a two-year prospective cohort study to explore the biological parameters of hypocoagulability and to assess the incidence and prevalence of DVT in thrombocytopenic patients on vitamin K antagonists. (AVK), anti-platelet aggregation (AGP) and / or direct oral anticoagulant (AOD).

In this study, the investigator means by hypocoagulability any situation modifying the normal coagulation system.

primary_purpose: Screening

lead_sponsor: Centre Antoine Lacassagne


title: Association Between the Composition of the Bacterial Flora of Thrombi and the Etiological Origin of Cerebral Infarctions Treated With Thrombectomy

acronym: Bacillus

summary: Cerebral infarction is a major health problem. The two most common causes are atherosclerosis (30 to 35%) and cardio-embolic origin (35 to 40%). However, in 25% of cases the cause is undetermined, known as cryptogenic stroke or stroke of undetermined origin. Paroxysmal Atrial Fibrillation appears to cause a significant proportion of these cryptogenic cerebral infarctions. One of the major challenges in the management of cerebral infarctions is the prevention of recurrence. If the cause is atheromatous, treatment is based on platelet antiaggregants and the correction of cardiovascular risk factors. If the cause is atrial fibrillation, the treatment of choice is anticoagulation therapy. Cryptogenic strokes are managed with antiplatelet therapy. In past studies, the thrombi responsible for cerebral infarctions have been analyzed anatomopathologically to see if the composition of the thrombi could help identify the cause of the cerebral infarction. These studies have proved to be contradictory. The composition of the bacterial flora of cerebral infarct thrombi has not yet been studied, apart from some limited data on septic emboli. In myocardial infarction, the cause of which is almost exclusively atheromatous, bacteria of the periodontal flora have been detected in thrombi of ST-segment elevation infarctions. The causes of cerebral infarction are multiple. The hypotheses explored in this study are that there are differences in the composition of the bacterial flora of the thrombus depending on whether the cause is atheromatous or cardio-embolic and that the study of the composition of the thrombus could be used to identify the cardio-embolic cause in patients with cryptogenic cerebral infarction.


title: Prognostic Value of the 6-minute Stepper Test in Non-small Cell Lung Cancer Surgery

acronym: PREOTEST

summary: The purpose of this study is to determine the predictive interest of the 6-minute stepper test in preoperative thoracic surgery. The goal is through this test to determine the risk of postoperative complications.

lead_sponsor: University Hospital, Rouen


title: Phase I Dose-escalation Study of Adapted Physical Activity in Children and Adolescent Suffering From Advanced Malignancies.

summary:
Adapted physical activity (APA) in the context of cancer is a field of growing interest and has been explored in numerous publications. In adults, the effects of APA on survival, symptoms and quality of life are established and its physiological consequences on immunity, angiogenesis and hormone secretion are under investigation.

In children and adolescents, evidence is scarce: pilot studies show clinical benefit of physical activity practiced in a wide variety of situations and protocols with low level of scientific evidence. It is therefore not possible to recommend this practice in pediatrics despite the large number of initiatives and the conviction of many clinicians that there is a benefit for patients. In particular, there are few trials in children with advanced cancer pathologies or in palliative care. However, these patients have a high prevalence of severe symptoms (pain, digestive disorders, asthenia, and anxiety) for which physical activity may represent a therapeutic option.

The purpose of our study is to describe a protocol of adapted physical activity and to evaluate its feasibility and toxicity according to a well-known and validated methodology in oncology used in drug development.

Methodology is based on a simple and reproducible intervention combining brisk walking on treadmill and exercises of muscular strengthening with varying durations and intensities depending on physical capabilities of patients.

The primary objective is to define the volume of physical activity that can be proposed to a patient starting APA based on the assessment of his physical condition evaluated by a 6-minutes walking distance test.

Inclusion criteria are broad to allow study population to represent the diversity of patients in pediatric palliative oncology. Stratification of patients in three groups based on a 6-minutes walking distance test aims to adapt intervention to physical capability of patients and improve tolerance.

Dose escalation will be set with a "3 + 3" regimen used in drug early phases trials.

Primary outcome measure is perceived tolerance evaluated by the patient with a subjective scoring on CREST scale. Any score greater than 8/10 defines intolerance.

location_facility: Assiatnce Publique Des Hopitaux de Marseille


title: Prospective Multicentre Randomized Clinical Trial on the Management of Pregnancies With High Risk of Venous Thrombosis

acronym: PRESCOT

summary:
The management of venous thromboembolism (VTE) risk in pregnancy still remains a challenge. An individual assessment of the VTE risk is crucial for optimal thromboprophylaxis, but there is no validated tool to help clinicians stratify the risk in pregnant women and introduce prophylactic anticoagulation at the appropriate time. Recommendations mostly based on case-control studies and expert opinions do not accurately reflect the physician's need. In view of the lack of international recommendations with a high level of evidence regarding prophylactic treatment of pregnant women at risk of thrombosis, the use of a risk stratification tool that takes all individual risk factors for VTE into consideration and which aids decisions over prophylaxis regimens may help. Investigators have previously described a VTE risk score (the Lyon-VTE-score), rating patients at increased risk of VTE and recommending individually tailored management. A retrospective evaluation of the initial score showed favorable outcomes in pregnancies with a high risk of thrombosis. A subsequent multicenter prospective study reported promising results using this score and related management strategy. The efficacy and safety after 10 years of prospective use of the Lyon-VTE-score in daily practice to guide the prescription of antithrombotic prophylaxis during pregnancy was recently evaluated and the results showed that the Lyon-VTE-score allows a standardized approach with objective criteria and can help non-specialized centers and young doctors manage these high-risk pregnancies.

The results of previous studies provide consistent conclusions on the safety and efficacy of the approach of investigators and give background for a medico-economic study to evaluate costs and consequences of this procedure. The most recent study (2005) evaluating the cost of prophylaxis in pregnant women, evaluated this cost as $1292 for each 6-week cycle of treatment. In addition, the use of such a score offers the prospect of personalized medicine, which is probably more cost-efficient compared to "inclusive, equal treatment for all".

In antepartum, the decision to administer thromboprophylaxis should be considered on an individual basis with regard to lowering the absolute risk of thrombosis, the inconvenience of daily subcutaneous heparin therapy and the potential risks of bleeding, heparin-induced thrombocytopenia and osteoporosis. An individual assessment of the VTE risk is crucial for optimal thromboprophylaxis, but there is no validated tool to help clinicians to stratify VTE risk in pregnant women and to introduce prophylactic anticoagulation at the right time.

Most of the recommendations are grade 2C. They are mostly based on case-control studies and expert opinions and do not entirely highlight the physicians' need. The originality of this approach is the use of a risk stratification tool that takes all individual risk factors for VTE into consideration and that aids the decision-making process of antenatal anti-thrombotic prophylaxis. This study will personalize care using a score to individually assess the risk and propose appropriate prevention.

The main objective of this study is to conduct a medico-economic study to evaluate the efficiency of an innovative strategy integrating the Lyon-VTE-score in the management of pregnant patients with venous thromboembolism risk versus standard care.

ReferenceCitation: Middleton P, Shepherd E, Gomersall JC. Venous thromboembolism prophylaxis for women at risk during pregnancy and the early postnatal period. Cochrane Database Syst Rev. 2021 Mar 29;3:CD001689. doi: 10.1002/14651858.CD001689.pub4.

name: Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute; Adelaide Australia

family: Middleton

full_name: Philippa Middleton

given: Philippa

name: Robinson Research Institute, Discipline of Obstetrics and Gynaecology, Adelaide Medical School; The University of Adelaide; Adelaide Australia

family: Shepherd

full_name: Emily Shepherd

given: Emily

name: Women and Kids, South Australian Health and Medical Research Institute; Adelaide Australia

family: Gomersall

full_name: Judith C Gomersall

given: Judith C

journal_name: Cochrane Database of Systematic Reviews


title: Brain Perfusion Assessment in the Acute Phase of Migraine Aura.

acronym: PERCAM

summary: The aim of the study is to determine the proportion of patients with change in brain perfusion during the acute phase of migraine attack with aura.

lead_sponsor: Nantes University Hospital