Microglial Depletion, a New Tool in Neuroinflammatory Disorders: Comparison of Pharmacological Inhibitors of the CSF-1R.

A growing body of evidence highlights the importance of microglia, the resident immune cells of the CNS, and their pro-inflammatory activation in the onset of many neurological diseases. Microglial proliferation, differentiation, and survival are highly dependent on the CSF-1 signaling pathway, which can be pharmacologically modulated by inhibiting its receptor, CSF-1R. Pharmacological inhibition of CSF-1R leads to an almost complete microglial depletion whereas treatment arrest allows for subsequent repopulation.

Loss-of-function of DDR1 is responsible for a chondrodysplasia with multiple dislocations.

Chondrodysplasias with multiple dislocations are rare skeletal disorders characterized by hyperlaxity, joint dislocations, and growth retardation. Chondrodysplasias with multiple dislocations have been linked to pathogenic variants in genes encoding proteins involved in the proteoglycan biosynthesis. In this study, by exome sequencing analysis, we identified a homozygous nonsense variant (NM_001297654.

Determining the time to cholangiocarcinoma in pediatric-onset PSC-IBD.

Primary sclerosing cholangitis (PSC) is a risk factor for cholangiocarcinoma. When a child is diagnosed with both PSC and inflammatory bowel disease (IBD), evidence-based information on counseling families and risk management of developing cholangiocarcinoma is limited. In this case series (PubMed/collaborators), we included patients with PSC-IBD who developed cholangiocarcinoma and contacted authors to determine an event curve specifying the time between the second diagnosis (IBD or PSC) and a diagnosis of cholangiocarcinoma.

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Systematic reviews and meta-analyses have become crucial for evidence-based decision-making in recent decades. However, it is common for the results of multiple reviews on the same topic to be inconsistent, and it is widely recognised that the results of the reviews are not always effectively communicated to healthcare professionals and the lay public. This manuscript proposes a strategy to summarise and communicate the findings of previous systematic reviews and meta-analyses to wider audiences.

Incidence and risk factors of graft failure in allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis in a nationwide pediatric cohort. A study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy.

Context: Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial.

Hearing loss and vestibular dysfunction in congenital CMV infection: Could it be due to endolymphatic pressure anomaly? A preliminary study.

Objectives: To describe the inner ear sectors after an inner ear MRI protocol and search for the presence of endolymphatic pressure anomaly in patients presenting with a congenital CMV infection and audio-vestibular dysfunction.

Methods: A 3D FLAIR MRI sequence, 4 h after gadolinium injection, was performed in patients with sensory-neural hearing loss secondary to a congenital CMV infection in order to analyse the morphology of the endolymphatic space.

Results: Two patients presented with a unilateral SNHL and 4 patients a bilateral SNHL.

Is oral dydrogesterone equivalent to vaginal micronized progesterone for luteal phase support in women receiving oocyte donation?

Research Question: To determine whether the use of oral dydrogesterone (DYD) in luteal phase support (LPS) during an artificial cycle provides equivalent clinical and ongoing pregnancy, delivery and miscarriage rates as micronized vaginal progesterone (MVP) in oocyte donation recipients.

Design: This was a retrospective observational study of prospectively collected data from the assisted reproductive technology (ART) Department of Lille University Hospital from July 2018 to July 2022. All recipients underwent endometrial preparation by an artificial cycle.

Molecular allergen sensitization drives phenotypes of severe asthma in children: Evidence from a megacity cohort (SAMP).

Background: Several major sensitization profiles have been described in children with asthma, but it remains unclear how these profiles relate to asthma phenotypes. The aim of this study was to determine allergenic sensitization profiles in a megacity cohort (SAMP).

Methods: This was a cross-sectional analysis performed from 2011 to 2015 including preschool and school-age children with severe and moderate asthma from the SAMP cohort.

Donor cytomegalovirus serology impacts overall survival in children receiving first unrelated hematopoietic stem cell transplant for acute leukemia: European Society of Bone Marrow Transplantation Pediatric Diseases Working Party Study.

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COMPARABLE OUTCOMES AFTER BUSULFAN- OR TREOSULFAN-BASED CONDITIONING FOR ALLO-HSCT IN CHILDREN WITH ALL-RESULTS OF FORUM.

The superiority of TBI-based versus chemotherapy-conditioning for allo-HSCT in children with ALL has been established in the international, prospective phase-III FORUM study (#NCT01949129), randomizing 417 patients ≤ 18 years at diagnosis (4-21 years at HSCT) in CR, transplanted from HLA-matched sibling or unrelated donors. Due to the unavailability of TBI in some regions and to accommodate individual contraindications, this study reports the pre-specified comparison of outcomes of patients receiving busulfan-based (BU) or treosulfan-based (TREO) regimens from 2013 to 2018. 180 and 128 patients (median age 9.

A Genetic Bridge Between Medicine and Neurodiversity for Autism.

Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures.

Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

Ixazomib, pomalidomide and dexamethasone in relapsed or refractory multiple myeloma characterized with high-risk cytogenetics: the IFM 2014-01 study.

Not available.

Enlarged Frontal Sinusotomy and Chronic Rhinosinusitis with Nasal Polyps: An Effective Strategy to Control the Disease.

Introduction: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a disease with a strong impact on the quality of life (QoL) which treatment is based on local intranasal corticosteroids (ICS) and iterative courses of systemic corticosteroids (SCS) in case of relapse. When medical treatment is insufficient, surgery is indicated. We investigated the impact of enlarged frontal sinusotomies (EFS: Draf IIb or Draf III) on QoL and annual SCS consumption of patients with severe uncontrolled CRSwNP.

Use of 3D Exoscope for Free Flaps Microanastomosis in Head and Neck Reconstruction.

Background: The use of the 3D exoscope in cervicofacial reconstruction has demonstrated its effectiveness, yet few studies have compared its utility to that of the microscope.

Objective: To compare the reliability of microanastomoses performed with both tools, along with postoperative outcomes and user experience.

Patients And Methods: This was a retrospective single-center study that included all cases of microanastomosed forearm or fibula free flap reconstructions performed between June 2019 and June 2022.

Classic Hodgkin Lymphoma: The LYSA pragmatic guidelines.

Classic Hodgkin lymphoma (HL) is a distinct entity among hematological malignancies of B-cell origin. It is characterized by its unique histopathological features and generally favorable prognosis. Over the years, advancements in understanding its pathogenesis, coupled with refined diagnostic and evaluation modalities, as well as therapeutic strategies, have significantly transformed the landscape of HL management.

Risk of Incident Cancer in Patients with Inflammatory Bowel Disease with Prior Breast Cancer: A Multicenter Cohort Study.

Background & Aims: Breast cancer is the most common malignancy observed in patients with inflammatory bowel diseases (IBD). The aim of our study was to evaluate incident cancer rate (recurrence or new-onset cancer) in a cohort of patients with IBD with a history of breast cancer according to the subsequent IBD treatment provided.

Methods: A multicenter retrospective study included consecutive patients with IBD with prior breast cancer.

Hypospadias Associated With Fetal Growth Restriction: A Multicentric Descriptive and Prognostic Cohort Study.

Objective: To determine the prevalence of genetic and endocrine abnormalities and to assess fetal, neonatal and surgical outcomes in cases of hypospadias associated with fetal growth restriction.

Method: A multicentric retrospective study was conducted across five prenatal diagnosis centers in Paris. The cohort encompassed all fetuses diagnosed with the combination of fetal growth restriction < 10th percentile (FGR) and hypospadias from 2013 to 2021.