27 results match your criteria: "Centre Hospitalier Regional Universitaire Lille[Affiliation]"

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Endocr Connect

March 2023

Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d'endocrinologie pédiatrique, Bron, France.

Article Synopsis
  • The study analyzed changes in the diagnosis and management of patients with two types of genetic deficiencies (SRD5A2 and HSD17B3) from 1994 to 2020, focusing on current diagnostic practices.
  • Out of 52 patients, over half were diagnosed at birth, with a trend showing earlier diagnoses for those born after 2007, and a notable shift in initial sex assignment from predominantly female to increasingly male.
  • Genetic testing revealed a variety of mutations in both genes, and the study concluded that there’s been a significant change in clinical approaches and therapeutic interventions based on evolving understanding of these conditions.
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Transfusion practice in patients receiving VV ECMO (PROTECMO): a prospective, multicentre, observational study.

Lancet Respir Med

March 2023

Department of Medicine and Center for Acute Respiratory Failure, Irving Medical Center, Columbia University, New York, NY, USA.

Background: In patients receiving venovenous (VV) extracorporeal membrane oxygenation (ECMO) packed red blood cell (PRBC) transfusion thresholds are usually higher than in other patients who are critically ill. Available guidelines suggest a restrictive approach, but do not provide specific recommendations on the topic. The main aim of this study was, in a short timeframe, to describe the actual values of haemoglobin and the rate and the thresholds for transfusion of PRBC during VV ECMO.

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Background: Empiric antifungal therapy is considered the standard of care for high-risk neutropenic patients with persistent fever. The impact of a preemptive, diagnostic-driven approach based on galactomannan screening and chest computed tomography scan on demand on survival and on the risk of invasive fungal disease (IFD) during the first weeks of high-risk neutropenia is unknown.

Methods: Patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) and allogeneic hematopoietic cell transplant recipients were randomly assigned to receive caspofungin empirically (arm A) or preemptively (arm B), while receiving fluconazole 400 mg daily prophylactically.

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Background: Dupilumab is the first biotherapy available for the treatment of moderate-to-severe childhood atopic dermatitis (AD).

Objective: The aim of this study was to evaluate the effectiveness and safety of dupilumab in daily practice.

Methods: Patients aged 6-11, who had received a first dose of dupilumab, were included in this multicentre retrospective cohort study.

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Renal Prognosis in Children With Tubulointerstitial Nephritis and Uveitis Syndrome.

Kidney Int Rep

December 2021

Service de Néphrologie pédiatrique, Centre Hospitalier Universitaire Montpellier, centre de référence maladies rénales rares du sud-ouest SORARE, Université de Montpellier-Filière ORKiD, Montpellier, France.

Introduction: Tubulointerstitial nephritis (TIN) and uveitis (TINU) syndrome is a rare disease. The renal prognosis is generally thought to be better in children with TINU syndrome than in adults. However, data are scarce.

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Article Synopsis
  • - The study found that including mutation status enhances risk assessment for newly diagnosed chronic myelomonocytic leukemia (CMML) patients, aiding in patient selection for stem cell transplantation.
  • - Specifically, mutations in ASXL1 and NRAS were linked to worse survival post-transplant, and a new prognostic score was developed to categorize risk based on these mutations and other clinical factors.
  • - This CMML transplant score effectively predicts survival and non-relapse mortality, assigning scores based on genetic indicators and comorbidities, thereby outperforming previous scores and aiding in personalized treatment strategies.
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Venetoclax (Ven) is a selective small-molecule inhibitor of BCL-2 that exhibits antitumoral activity against MM cells with t(11;14) translocation. We evaluated the safety and efficacy of Ven and dexamethasone (VenDex) combination in patients with t(11;14) positive relapsed/refractory (R/R) multiple myeloma (MM). This open-label, multicenter study had two distinct phases (phase one [P1], phase two [P2]).

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Heterozygous missense mutations in coatomer protein subunit α, COPA, cause a syndrome overlapping clinically with type I IFN-mediated disease due to gain-of-function in STING, a key adaptor of IFN signaling. Recently, increased levels of IFN-stimulated genes (ISGs) were described in COPA syndrome. However, the link between COPA mutations and IFN signaling is unknown.

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Background: The blunting effect of pertussis immunization during pregnancy on infant antibody responses induced by whole-cell pertussis (wP) vaccination is not well-defined.

Methods: This randomized controlled trial (NCT02408926) followed term infants born to mothers vaccinated with tetanus, diphtheria, and acellular pertussis (Tdap) vaccine during pregnancy in Thailand. Infants received either acellular pertussis (aP)- or wP-containing vaccine at 2, 4, 6, and 18 months of age.

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Objectives: New diagnostic criteria for Alzheimer's disease (AD) include cerebrospinal fluid (CSF) biomarkers that allow diagnosis at the stage of mild cognitive impairment (MCI). However, the impact of CSF biomarkers in MCI populations in clinical practice has been poorly evaluated. The objective of this study is to assess the use and impact in clinical practice of AD CSF biomarkers in French memory clinics.

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Purpose: The wide heterogeneity in multiple myeloma (MM) outcome is driven mainly by cytogenetic abnormalities. The current definition of high-risk profile is restrictive and oversimplified. To adapt MM treatment to risk, we need to better define a cytogenetic risk classification.

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Background: Postoperative nausea and vomiting are relevant complications after restrictive bariatric procedures, such as sleeve gastrectomy, mainly secondary to a drastic reduction in the gastric volume. However, other causes can be involved. The aim of this study was to determine the incidence of postoperative nausea and vomiting (PONV) after laparoscopic sleeve gastrectomy (LSG), with staple line reinforcement with oversewing vs buttressing material.

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It is important to have an effective therapy for patients with multiple myeloma (MM) at first relapse, particularly if an autologous stem cell transplant (ASCT) is considered at this stage. This multicenter, phase 2 trial evaluated the efficacy and safety of weekly oral pomalidomide-cyclophosphamide-dexamethasone (PCD) in patients with MM in first relapse after treatment with lenalidomide-bortezomib-dexamethasone (RVD). All patients had received RVD as induction and consolidation therapy, plus lenalidomide maintenance for 1 year (arm A).

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Purpose: Our objective was to assess the prevalence of intraoperative cyst rupture and its impact on oncologic outcomes.

Materials And Methods: All patients who underwent partial nephrectomy for a cystic renal mass via an open or robot-assisted approach at a total of 8 academic institutions were included in this retrospective study. All operative reports were carefully reviewed and any description of cyst rupture, cyst effraction or local spillage intraoperatively was recorded as cyst rupture.

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Venetoclax is a selective, orally bioavailable BCL-2 inhibitor that induces cell death in multiple myeloma (MM) cells, particularly in those harboring t(11;14), which express high levels of BCL-2 relative to BCL-X and MCL-1. In this phase 1 study, patients with relapsed/refractory MM received venetoclax monotherapy. After a 2-week lead-in with weekly dose escalation, daily venetoclax was given at 300, 600, 900, or 1200 mg in dose-escalation cohorts and 1200 mg in the safety expansion.

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The antiapoptotic proteins BCL-2 and myeloid cell leukemia sequence 1 (MCL-1) promote multiple myeloma (MM) cell survival. Venetoclax is a selective, orally bioavailable small-molecule BCL-2 inhibitor; bortezomib can indirectly inhibit MCL-1. In preclinical studies, venetoclax enhanced bortezomib activity, suggesting that cotargeting of BCL-2 and MCL-1 could be an effective treatment strategy in myeloma.

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Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.

Gastroenterology

August 2017

Molecular Diagnostic and Clinical Research Unit, Institut for Regional Sundhedsforskning, Center Sønderjylland, University of Southern Denmark, Odense, Denmark; Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark; Laboratory Center, Hospital of Southern Jutland, Aabenraa, Denmark. Electronic address:

Background & Aims: The role of tobacco smoke in the etiology of inflammatory bowel disease (IBD) is unclear. We investigated interactions between genes and smoking (gene-smoking interactions) that affect risk for Crohn's disease (CD) and ulcerative colitis (UC) in a case-only study of patients and in mouse models of IBD.

Methods: We used 55 Immunochip-wide datasets that included 19,735 IBD cases (10,856 CD cases and 8879 UC cases) of known smoking status.

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Background: Swallowing deficits and freezing phenomena represent severe parkinsonian features. Freezing as a symptom occurring during swallowing has not been reported on yet.

Methods: We report on 3 patients with probable PSP-parkinsonism (PSP-P) who manifested freezing of swallowing (FOS).

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Defective NK Cells in Acute Myeloid Leukemia Patients at Diagnosis Are Associated with Blast Transcriptional Signatures of Immune Evasion.

J Immunol

September 2015

INSERM, Unité Mixte de Recherche-S1160, 75010 Paris, France; Institut Universitaire d'Hématologie, Université Paris Diderot, Sorbonne Paris Cité, 75010 Paris, France; Laboratoire d'Immunologie et Histocompatibilité, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, 75010 Paris, France;

Acute myeloid leukemia (AML) is a heterogeneous group of malignancies that may be sensitive to the NK cell antitumor response. However, NK cells are frequently defective in AML. In this study, we found in an exploratory cohort (n = 46) that NK cell status at diagnosis of AML separated patients in two groups with a different clinical outcome.

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Background: Myxoma resistance protein 1 (MxA) is induced during viral infections. MxA testing could be helpful to differentiate between viral and bacterial infections.

Methods: A prospective multicenter cohort study was performed in pediatric emergency departments.

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Magnetic Resonance Imaging Targeted Biopsy Improves Selection of Patients Considered for Active Surveillance for Clinically Low Risk Prostate Cancer Based on Systematic Biopsies.

J Urol

August 2015

Department of Urology (AO, FM, JO, AV), Centre Hospitalier Universitaire Lille, Université de Lille, Lille, France; Department of Radiology (PP), Centre Hospitalier Universitaire Lille, Université de Lille, Lille, France; Inserm U1189 ONCO-THAI, Centre Hospitalier Régional Universitaire Lille, Université de Lille (AO, PP, AV), Loos, France; Department of Radiology (RR-P), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, University Paris VI, Paris, France; Department of Urology (PM), Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, University Paris VI, Paris, France.

Purpose: Current selection criteria for active surveillance based on systematic biopsy underestimate prostate cancer volume and grade. We investigated the role of additional magnetic resonance imaging targeted biopsy in reclassifying patients eligible for active surveillance based on systematic biopsy.

Materials And Methods: We performed a study at 2 institutions in a total of 281 men with increased prostate specific antigen.

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Background: Merkel cell carcinoma (MCC) is a rare skin cancer. Cumulative data from retrospective series support the notion that benefits are obtained by both wide excision and adjuvant radiation therapy. However, surgery may be difficult to perform with tumors located in the head and neck region and/or in elderly patients with comorbidities incompatible with general anesthesia.

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Quality of life in adults with bladder exstrophy-epispadias complex.

J Urol

December 2010

Département de Chirurgie et Orthopédie de l'Enfant, Hôpital Jeanne de Flandre, Centre Hospitalier Régional Universitaire Lille, Lille Cedex, France.

Purpose: We evaluated quality of life in adults with bladder exstrophy-epispadias complex to improve patient and parent counseling.

Materials And Methods: We evaluated quality of life in a multicenter study using the SF-36® Medical Outcome Study questionnaire and a local questionnaire. A total of 47 patients born in 1957 to 1990 were followed due to bladder exstrophy-epispadias complex at the 4 participating hospitals.

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Background: Talc is the most effective chemical pleurodesis agent for patients with malignant pleural effusion. However, concerns have arisen about the safety of intrapleural application of talc, after reports of development of acute respiratory distress syndrome in 1-9% of treated patients. Our aim was to establish whether use of large-particle-size talc is safe in patients with malignant pleural effusion.

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