103 results match your criteria: "APHP - Sorbonne University[Affiliation]"

Background And Objectives: Post-traumatic brain injury (TBI) lesions, which combine brain atrophy and white matter injuries, can lead to progressive post-traumatic encephalopathy. However, the specific involvement of the cerebellum, which participates in cognitive, executive, and sensory functions, has been little studied. The aim of this work was to explore the long-term cerebellar consequences of severe TBI.

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Article Synopsis
  • - KCNMA1-linked channelopathy leads to neurodevelopmental disorders, epilepsy, and non-epileptic episodes characterized by specific facial, behavioral, and physical symptoms.
  • - A review of 14 videos highlighted typical episode features: facial changes, behavioral arrest, loss of postural control, and quick recovery without drowsiness, with episodes often triggered by emotions.
  • - Distinguishing KCNMA1-related attacks from other conditions like paroxysmal dyskinesia and cataplexy will improve accurate diagnosis and targeted treatment for affected individuals.
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Multimodal Assessment of the Origin of Myoclonus in Lance-Adams Syndrome.

Neurology

December 2024

From the Paris Brain Institute (G.V., E.A., P.B., V.N.), ICM, Inserm, CNRS, Sorbonne University; AP-HP (G.V., V.N.), EEG Unit, Department of Neurophysiology, Pitié-Salpêtrière Hospital; AP-HP (E.A.), Neurophysiology of Movement Disorders Unit, Department of Neurophysiology, Saint-Antoine and Pitié-Salpêtrière Hospital; AP-HP (M.A.D.R.Q., V.N.), Epilepsy Unit, Department of Neurology, Reference Center of Rare Epilepsies, ERN-EpiCare, Pitié-Salpêtrière Hospital; AP-HP (D.V.C., A.K.), Department of Nuclear Medicine, Pitié-Salpêtrière Hospital, APHP Sorbonne University; Sorbonne University (A.K.), Inserm, CNRS, Laboratoire D'Imagerie Biomédicale, LIB, Paris, France.

Background And Objectives: Lance-Adams syndrome (LAS), or chronic posthypoxic myoclonus, is a long-term disabling neurologic disorder occurring in survivors of anoxia. The cortical or subcortical origin of this myoclonus is unclear. We aimed to identify the neuroanatomical origin of myoclonus in LAS.

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Patients' knowledge about renal secondary effects of anti-tumoral drugs and renal protection measures.

Support Care Cancer

November 2024

Groupe de Recherche Interdisciplinaire Francophone en Onco-Néphrologie (GRIFON), Paris, France.

Purpose: Onco-nephrology is an emerging subspecialty aiming to better understand and prevent renal events in cancer patients. We assessed patients' knowledge about (1) oncological/hematological treatments induced renal toxicity and (2) kidney protective measures.

Methods: Adult patients receiving systemic anti-tumor treatments in multiple day hospital units in France answered a self-administered questionnaire about their knowledge and expectations related to treatment-associated renal toxicity.

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Article Synopsis
  • The study looked at how patients with a liver disease called primary biliary cholangitis (PBC) respond to a treatment called ursodeoxycholic acid (UDCA).
  • It found that many patients (33%) didn’t have a good response after one year, and those who lost their good response had a higher chance of needing a liver transplant or dying.
  • The research showed that staying or getting back to a good response is important for improving long-term health.
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Erythrocyte membrane protein band 4.1 like 3 (EPB41L3: NM_012307.5), also known as DAL1, encodes the ubiquitously expressed, neuronally enriched 4.

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Study Objectives: To collect prodromal symptoms experienced by participants with narcolepsy and idiopathic hypersomnia (considered "hypersomnolence experts") prior to drowsy driving and counterstrategies used to maintain alertness.

Methods: Systematic, face-to-face interview (using a semi-structured questionnaire), including clinical measures, frequency of car accidents/near misses, and symptoms experienced before impending drowsy driving episodes and counterstrategies.

Results: Among 61 participants (32 with narcolepsy, 29 with idiopathic hypersomnia; 56 drivers), 61% of drivers had at least one lifetime accident/near miss.

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Anaemia is common in chronic kidney disease (CKD) and has a significant impact on quality of life (QoL), work productivity and outcomes. Current management includes oral or intravenous iron and erythropoiesis-stimulating agents (ESAs), to which hypoxia-inducible factor prolyl hydroxylase inhibitors (HIF-PHIs) have been recently added, increasing the available therapeutic options. In randomised controlled trials, only intravenous iron improved cardiovascular outcome, while some ESAs were associated with increased adverse cardiovascular events.

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Childhood pancreatic neuroendocrine neoplasms: A national experience.

Pediatr Blood Cancer

February 2025

Unité d'Onco-Hémato-Immunologie pédiatrique, CHU Angers, Angers, France.

Article Synopsis
  • Pancreatic neuroendocrine neoplasms (pNENs) are rare in children, with a study examining cases between 2011 and 2020 to understand their clinical presentation and behavior.
  • The study analyzed 15 patients, mostly adolescents, and found that a significant number had cancer predisposition syndromes, with some diagnosed through screening.
  • Results showed that patients with low-grade tumors had better survival rates, while those with high-grade or metastatic cancers faced poorer outcomes, highlighting the need for improved treatment strategies for severe cases.
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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Am J Hum Genet

August 2024

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Article Synopsis
  • KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
  • A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
  • Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
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Article Synopsis
  • * The French Association for the Study of the Liver created guidelines to summarize the best practices for managing iCCA and pCCA, based on comprehensive expert analysis and voting.
  • * These guidelines cover the epidemiology of cholangiocarcinoma and outline management strategies from diagnosis to treatment, emphasizing advancements in personalized medicine and targeted therapies.
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Objective: To report the results of a multicenter cohort of preoperative brachytherapy (PBT) for treatment of early-stage cervical cancer (ESCC).

Methods: A retrospective analysis was conducted among five French comprehensive cancer centers on behalf of the SFRO Brachytherapy Group to examine the outcome of patients with ESCC who received PBT between 2001 and 2019 because of adverse prognostic factors (tumor size >2 cm, presence of lymphovascular invasion, adenocarcinoma).Brachytherapy was followed 4-8 weeks later by surgery.

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REM and NREM Sleep Parasomnia in Anti-NMDA Receptor Encephalitis.

Neurol Neuroimmunol Neuroinflamm

September 2024

From the Sleep Clinic (L.R., R.V., I.A., A.Z.G.), Pitié-Salpêtrière Hospital, APHP-Sorbonne University, Paris, France; Neurology Department (L.R.), Unidade Local de Saude, Matosinhos, Portugual; Department of Neurology 2 (D.P.), Neuro-oncology Department, Pitié-Salpêtrière Hospital, APHP-Sorbonne University, Paris; National Reference Centre on Paraneoplastic Neurological Syndromes (J.H.), Hospices Civils de Lyon, MeLiS - UCBL-CNRS UMR 5284 - INSERM U1314, Université Claude Bernard Lyon 1; and Neurology Department (A.M., S.D., A.C., N.E.V., L.C., L.L.G.), Pitié-Salpêtrière Hospital, APHP-Sorbonne University, Paris, France.

Objectives: Encephalitis with anti-N-methyl-d-aspartate receptor antibodies (anti-NMDARe) is a rare disorder characterized by cognitive impairment, psychosis, seizures, and abnormal movements. Abnormal behaviors during REM sleep have not been described in anti-NMDARe.

Methods: Patients were monitored by video-polysomnography on a first night followed by multiple sleep latency tests and 18 hours of bed rest.

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Purpose: The efficacy of the 1-h bundle for emergency department (ED) patients with suspected sepsis, which includes lactate measurement, blood culture, broad-spectrum antibiotics administration, administration of 30 mL/kg crystalloid fluid for hypotension or lactate ≥ 4 mmol/L, remains controversial.

Methods: We carried out a pragmatic stepped-wedge cluster-randomized trial in 23 EDs in France and Spain. Adult patients with Sepsis-3 criteria or a quick sequential organ failure assessment (SOFA) score ≥ 2 or a lactate > 2 mmol/L were eligible.

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Purpose: Polypharmacy is a frequent situation in older adults that increases the risk of drug-drug interactions (DDIs), both pharmacokinetic (PK) and pharmacodynamic (PD). Direct oral anticoagulants (DOACs) are frequently prescribed in older adults, mainly because of the high prevalence of atrial fibrillation (AF). DOACs are subject to cytochrome P450 3A4 (CYP3A4)- and/or P-glycoprotein (P-gp)-mediated PK DDIs and PD DDIs when co-administered with drugs that interfere with platelet function.

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Expanding the Spectrum of Congenital Myopathy Linked to Variants in the Gene: A Clinical Report.

Neurol Clin Pract

June 2024

CHU Nantes (P-LL, SC, MV, BI, SM), Department of Medical Genetics, France; The Center for Applied Genomics (DL, HH); Division of Human Genetics (DL, HH); Department of Pediatrics (DL, HH, MJF), Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA; CHU Nantes (AM, YP), Department of Clinical Neurophysiology; Reference Centre for Neuromuscular Disorders AOC (AM, YP, SM), Filnemus, Euro-NMD, Nantes; CHD Vendée (XM), Service de Pédiatrie, La Roche sur Yon, France; Nantes Université (MV, BI, SM), CNRS, INSERM, l'institut du thorax; APHP (DS), Metabolic Biochemistry Department, Genetics Center, Pitié-Salpêtrière Hospital Group, Center of Research in Myology, APHP Sorbonne University, Paris, France; Mitochondrial Medicine Frontier Program (EMM, MJF), Division of Human Genetics, Department of Pediatrics; and Division of Pulmonary Medicine (HH), The Joseph Stokes, Jr. Research Institute, Children's Hospital of Philadelphia, PA.

Objectives: Heterozygous missense variants in have been recently identified in 13 patients from 6 families with congenital myopathy with tremor. All the patients had mild skeletal myopathy invariably associated with a distinctive myogenic tremor and hypotonia with gradual clinical improvement. However, no phenotypic description has been reported for the neonatal respiratory impairment that patients may suffer.

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Treatment of COVID-19-associated ARDS with umbilical cord-derived mesenchymal stromal cells in the STROMA-CoV-2 multicenter randomized double-blind trial: long-term safety, respiratory function, and quality of life.

Stem Cell Res Ther

April 2024

Multidisciplinary Intensive Care Unit, Department of Anesthesiology-Critical Care and Perioperative Medicine, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne University, 47-83, boulevard de l'Hôpital, 75651, Paris Cedex 13, France.

Article Synopsis
  • - The STROMA-CoV-2 study evaluated the effects of umbilical cord-derived mesenchymal stromal cells (UC-MSCs) on patients with severe respiratory issues from SARS-CoV-2, finding no significant effectiveness despite good safety results after 28 days.
  • - An extended follow-up assessed the long-term safety and health outcomes of UC-MSC administration in the same patient cohort at 6 and 12 months post-hospital discharge, focusing on various health metrics.
  • - Results indicated a favorable safety profile with no significant differences between UC-MSC and placebo groups, although some patients experienced lingering lung issues and declines in quality of life over the year.
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Background And Purpose: Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature.

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Preterm birth and its related complications have become more and more common as neonatal medicine advances. The concept of "developmental origins of health and disease" has raised awareness of adverse perinatal events in the development of diseases later in life. To explore this concept, we propose that encephalopathy of prematurity (EoP) as a potential pro-inflammatory early life event becomes a novel risk factor for metabolic diseases in children/adolescents and adulthood.

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Article Synopsis
  • The analysis looked at how filgotinib affects pain management in rheumatoid arthritis (RA) patients, based on data from the FINCH 1-3 studies.
  • Results showed that filgotinib started reducing pain by week 2, with sustained improvement observed throughout the studies.
  • In comparison to other treatments, filgotinib 200 mg led to better pain reduction and higher rates of patients achieving low pain levels and remission compared to filgotinib 100 mg and adalimumab.
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Article Synopsis
  • Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
  • A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
  • Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.
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Long sleep time and excessive need for sleep: State of the art and perspectives.

Neurophysiol Clin

April 2024

APHM, Timone hospital, Sleep Unit, Epileptology and Cerebral Rhythmology, Marseille, France; Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst, Marseille, France. Electronic address:

The mechanisms underlying the individual need for sleep are unclear. Sleep duration is indeed influenced by multiple factors, such as genetic background, circadian and homeostatic processes, environmental factors, and sometimes transient disturbances such as infections. In some cases, the need for sleep dramatically and chronically increases, inducing a daily-life disability.

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