384 results match your criteria: "University hospital of Lyon[Affiliation]"

RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Genet Med

December 2024

Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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Objective: Despite significant advances in cancer treatment with targeted therapies and immunotherapies, cytotoxic chemotherapies are still extensively used. Potential cytotoxic contamination in preparing and administrating cytotoxics is still a major source of concern. Besides advanced protections including biological safety cabinets, work surface contamination needs to be continuously controlled to ensure that handling procedures and cleaning were appropriate.

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Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache (ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused by either the Thr237Met or Tyr254Cys variant in the protein kinase ALPK1. Here, we identify a family in which ROSAH syndrome is caused by a novel variant in which Ser277 is changed to Phe. All six patients examined display ocular inflammation and optic nerve elevation, four have retinal degeneration and four are registered blind.

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SACHA-France (NCT04477681) is a prospective real-world study that collects clinical safety and efficacy data of novel anticancer therapies prescribed off-label or on compassionate use to patients <25 years. From March 2020 until February 2024, 640 patients with solid tumors or lymphomas were included, with 176 (28%) reported objective tumor responses. Centralized medical monitoring of local radiological/functional imaging reports by the SACHA coordinating investigator led to response modification in 45 out of 176 cases (26%), highlighting the relevance of the medical review of study data.

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Oncocytic adenocarcinoma (OC) of the salivary glands is a rare and controversial entity. It was recently reclassified as "salivary carcinoma NOS and emerging entities" in the 2022 WHO classification of head and neck tumors. The lack of specific molecular alterations and its potential affiliation with other salivary gland carcinomas, such as the oncocytic mucoepidermoid carcinomas (OMEC) or the oncocytic subtype of salivary duct carcinomas (OSDC) justified this reclassification.

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: Data regarding fungal PJIs of the shoulder are scarce. The present systematic review aims to identify and evaluate all published shoulder fungal PJIs in an effort to better understand the diagnostic and therapeutic approach to these infections. : A systematic review according to the PRISMA guidelines was conducted, locating all shoulder fungal PJIs.

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Therapeutic strategy for advanced stages salivary carcinomas of the tongue: A multicenter REFCOR study.

Oral Oncol

December 2024

Otolaryngology, Head and Neck Surgery Department, University Cancer Institute Toulouse and Toulouse University Hospital, Larrey Hospital, Toulouse, France.

Introduction: Salivary carcinomas of the tongue represent a therapeutic challenge as their radical excision is particularly mutilating. We aimed to study the oncologic and functional outcomes of advanced stages salivary carcinomas of the tongue.

Materials And Methods: This retrospective multicentric study, based on the French national network on rare head and neck cancers (REFCOR), included all patients with a T3-T4 salivary carcinoma of the tongue, diagnosed between January 2009 and December 2018.

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Introduction: Sexuality is an integral part of well-being. Urologists are a population faced with a significant workload and stress that can affect their sexuality. The purpose of this study is to investigate sexuality in this population and assess factors that may impact it.

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Article Synopsis
  • Therapeutic Drug Monitoring (TDM) is crucial for managing inflammatory bowel disease (IBD) patients on infliximab (IFX) or adalimumab, especially when there's a loss of response to these treatments; however, TDM isn't recommended for other biologic therapies.
  • A review of literature indicates that TDM might be beneficial for IFX subcutaneous (SC) use, while it's not effective for golimumab, and findings on vedolizumab are inconsistent; ustekinumab shows some promise, but less so than anti-TNF agents.
  • Recent advancements suggest that using dashboard systems for precision dosing of anti-TNF agents could optimize treatment, emphasizing a proactive approach to TDM.
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Malignant salivary gland tumors of the tongue: A multicenter REFCOR study.

Int J Cancer

January 2025

Otolaryngology, Head and Neck Surgery Department, University Cancer Institute Toulouse and Toulouse University Hospital, Larrey Hospital, Toulouse, France.

Article Synopsis
  • Salivary carcinomas of minor salivary glands, particularly in the tongue, are rare tumors that may require surgery and/or (chemo-)radiotherapy for treatment.
  • A study involving 103 patients diagnosed between 2009 and 2018 found that the most common types were adenoid cystic and mucoepidermoid carcinomas, with surgery being the primary treatment for most cases.
  • Results indicated that 5-year overall survival was 84.7%, while event-free survival was lower at 38.6%; nonsurgical treatment, alcohol use, and tumor location negatively impacted event-free survival, while nodal positivity was a key factor affecting overall survival.
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Article Synopsis
  • - The study investigated the clinical outcomes of transarterial embolization (TAE) for visceral artery pseudoaneurysm (VAPA) over a period from 2012 to 2023, analyzing data from 89 patients at a hospital in France.
  • - Key findings showed that 86.5% of patients experienced clinical success post-procedure, but factors like low hemoglobin levels, the number of red blood cell transfusions, and gastrointestinal bleeding were linked to higher chances of clinical failure.
  • - Although initial results suggested these factors were impactful, multivariate analysis found no statistically significant predictors for clinical success, indicating a need for further research in understanding TAE outcomes for VAPA.
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genet Med

September 2024

Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address:

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

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Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies.

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In 2010, the United States Human and Health Services (US HHS) and the European Union's (EU) Directorate General for Communications Networks, Content and Technology signed a memorandum of understanding to stimulate cooperation surrounding health-related information communications technology. The key project that emerged from this agreement is the (IPS), intended to provide succinct clinically relevant patient summaries, which are generalizable and condition-independent, that can be readily used by all clinicians for the care of patients. Although allergies are included in the main information required by the IPS library and framework, it is misrepresented which leads to underdiagnosis or misdiagnosis of patients suffering from allergic and hypersensitivity conditions (A/H).

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Monitoring of drug use in athletes is of interest both for health and competition-related issues. Considering the advantages of Dried Blood Sampling (low invasiveness, easy sampling, long term storage), we have validated a quantitative LC-MS/HRMS method for the screening of 16 nonsteroidal anti-inflammatory drugs. For all drugs, accuracy and imprecision were within 15% for the 3 levels of quality control and lower than 20% for the lower limit of quantification.

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Article Synopsis
  • Sequence-based genetic testing finds causative variants in about 50% of cases of developmental and epileptic encephalopathies (DEEs), but DNA methylation changes in these cases have not been thoroughly explored.
  • This study analyzed genome-wide DNA methylation in blood samples from 582 individuals with unresolved DEEs, identifying rare methylation patterns and potential genetic causes in 12 of these cases.
  • The research highlights the effectiveness of DNA methylation analysis in diagnosing DEEs, showing a 2% diagnostic yield, and provides insights into the CHD2 gene's pathophysiology using advanced sequencing methods.
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Article Synopsis
  • Recent findings indicate that biallelic WARS2 pathogenic variants lead to a partial aminoacylation defect, linked to late-onset conditions like dopa-responsive dystonia parkinsonism and myoclonus ataxia.
  • * The case study describes a 39-year-old male with a history of childhood-onset progressive dystonia, psychiatric symptoms, and ataxia, where genome sequencing revealed specific variants that confirmed a WARS2-related disease diagnosis.
  • * The identified missense variant (p.(Trp13Gly)) is associated with milder symptoms compared to severe loss-of-function variants, reinforcing the relationship between genotype and phenotype in these disorders.
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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Neurol Genet

August 2024

From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus.

Objectives: To present a case series of novel variants in patients presenting with genetic epileptic and developmental encephalopathy.

Background: CHD2 gene encodes an ATP-dependent enzyme, chromodomain helicase DNA-binding protein 2, involved in chromatin remodeling. Pathogenic variants in CHD2 are linked to early-onset conditions such as developmental and epileptic encephalopathy, drug-resistant epilepsies, and neurodevelopmental disorders.

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How to be sure of a complete removal of Essure® implant? A radiological study of Essure® microinserts.

J Gynecol Obstet Hum Reprod

November 2024

Department of Gynecology, Hôpital Femme Mère Enfant, HFME, University Hospital of Lyon, 59 boulevard Pinel, Lyon 69000, France.

Article Synopsis
  • Laparoscopic cornuectomy is commonly used to remove Essure® implants, but there's a risk of the device fragmenting, which can complicate surgery.
  • A study of 66 patients by gynecologists assessed the effectiveness of intraoperative radiographs compared to direct inspection of the removed implants to check for any remaining fragments.
  • Results showed that while the sensitivity and specificity were high for both methods, senior gynecologists performed better than residents, and postoperative imaging is still advised for thorough checking after the procedure.
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Conversion of Sleeve Gastrectomy to Roux-en-Y Gastric Bypass: Is Intrathoracic Migration of the Sleeve of High Incidence?

Obes Surg

August 2024

Department of Digestive Surgery, Centre of Bariatric Surgery, University Hospital of Edouard Herriot, Hospices Civils de Lyon, 5 Place d'Arsonval, 69437, Lyon Cedex 03, France.

Background: Conversion of SG to Roux-en-Y gastric bypass (RYGB) is increasing. Intrathoracic migration of the sleeve (ITM) often seems associated and is increasingly reported.

Material And Methods: Patients who underwent a conversion of SG to RYGB from August 2013 to December 2022 were included.

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Background: The use of dose administration aids in automated ward dispensing devices requires the repackaging of medications, which may impact their stability compared with the original manufacturer's packaging.

Objectives: This study aimed to assess the physical and chemical stability of clozapine tablets for up to 84 days after repackaging.

Methods: A total of 900 tablets of clozapine 100 mg (Viatris) were repackaged and stored under five different conditions to conduct physical and chemical stability tests on days 0, 28, 56 and 84.

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Nonpalpable implant removals at centre of experience in France: a cohort study.

Eur J Contracept Reprod Health Care

August 2024

Department of Gynecology, Hôpital Femme Mère Enfant, HFME, University Hospital of Lyon, Bron, France.

Objective(s): Management and localisation strategies to remove nonpalpable contraceptive implants may be difficult. We aimed to evaluate our imaging modalities to identify deep implant and patient outcomes related to removal.

Study Design: In this retrospective study, we reviewed all cases referred to our specialised centre for nonpalpable contraceptive implants from January 2018 to August 2022.

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