Incomplete elimination of viral genomes is associated with chronic inflammation in nonhuman primate livers after AAV-mediated gene transfer.

The liver is a unique organ where immunity can be biased toward ineffective response notably in the context of viral infections. Chronic viral hepatitis depends on the inability of the T-cell immune response to eradicate antigen. In the case of recombinant Adeno-Associated-Virus, used for therapeutic gene transfer, conflicting reports describe tolerance induction to different transgene products while other studies have shown conventional cytotoxic CD8 T cell responses with a rapid loss of transgene expression.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Patients with essential thrombocythemia (ET) have a chronic evolution with a risk of hematological transformation associated with a dismal outcome. Since patients with resistance or intolerance have an adverse prognosis, it is important to identify which patient will respond to first-line treatment. We therefore aim to describe the association between additional mutations and response to first-line treatment in patients with ET.

Chapter 14: POST-SURGICAL FOLLOW-UP.

Primary hyperparathyroidism is treated surgically. Postoperatively, close monitoring of blood calcium levels is necessary to detect any hypocalcemia. Postoperative PTH assays can be performed within 24 hours to identify patients who will not develop permanent hypoparathyroidism.

Variations in linear energy transfer distributions within a European proton therapy planning comparison of paediatric posterior fossa tumours.

Background And Purpose: Radiotherapy for paediatric posterior fossa tumours may cause complications in the brainstem and upper spinal cord due to high doses. With proton therapy (PT) this risk may increase due to higher relative biological effectiveness (RBE) from elevated linear energy transfer (LET). This study assesses variations in LET in the brainstem and spinal cord in proton treatment plans from European centres.

Efficacy of immune checkpoint inhibitors in renal cell carcinoma venous tumour thrombus shrinkage (UroCCR 128).

Purpose: Surgery remains the cornerstone of localized renal cell carcinoma (RCC) care. Pembrolizumab has recently been recommended as a standard of care for RCC patients who are at high risk of recurrence. Data regarding the efficacy of ICIs either alone or in combination with ICIs or VEGF TKIs for VTT shrinkage are scarce.

User Experience of a Semi-Immersive Musical Serious Game to Stimulate Cognitive Functions in Hospitalized Older Patients: Questionnaire Study.

Background: Reminiscence therapy through music is a psychosocial intervention with benefits for older patients with neurocognitive disorders. Therapies using virtual or augmented reality are efficient in ecologically assessing, and eventually training, episodic memory in older populations. We designed a semi-immersive musical game called "A Life in Songs," which invites patients to immerse themselves in a past era through visuals and songs from that time period.

Angioedema due to acquired C1-inhibitor deficiency without hematological condition: a multicenter French cohort study of 34 patients.

Background: Angioedema (AE) due to acquired C1-inhibitor deficiency (AAE-C1-INH) is a rare disease associating recurrent edema of mucosa and skin. Several underlying diseases have been reported, mainly lymphoproliferative diseases and monoclonal gammopathy. However, 15 to 20% of patients never exhibit such a hematological condition.

Mapping the neural substrate of high dual-task gait cost in older adults across the cognitive spectrum.

The dual task cost of gait (DTC) is an accessible and cost-effective test that can help identify individuals with cognitive decline and dementia. However, its neural substrate has not been widely described. This study aims to investigate the neural substrate of the high DTC in older adults across the spectrum of cognitive decline.

Community pharmacists' perceptions of their challenges in relation to older adults prescribed psychotropic medications: a focus-group study.

Background: The management of psychotropic medication in older adults is a challenge for every healthcare professional, but data concerning community pharmacists are scarce in the literature.

Aim: Our objectives were i) to understand the difficulties encountered by community pharmacists in managing older adults on psychotropic medication, and ii) to identify potential solutions to the difficulties discussed.

Method: A qualitative study by focus group was proposed to all community pharmacists in the vicinity of the university hospital of Angers, France, between May and June 2023.

Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

Effect of oral nintedanib vs placebo on epistaxis in hereditary hemorrhagic telangiectasia: the EPICURE multicenter randomized double-blind trial.

Epistaxis greatly affects patients with hereditary hemorrhagic telangiectasia (HHT). Although few systemic treatment exist, nintedanib, is a good candidate thanks to its anti-angiogenic activity. Our main objective was to evaluate the efficacy of oral nintedanib on epistaxis duration in HHT patients with moderate to severe epistaxis.

Biopsy-Proven T-Cell Mediated Rejection After Belatacept Rescue Conversion: A Multicenter Retrospective Study.

After kidney transplantation, conversion to belatacept is a promising alternative in patients with poor graft function or intolerance to calcineurin inhibitors. The risk of acute rejection has not been well described under these conditions. Here we present a retrospective multicenter study investigating the occurrence of acute rejection after conversion in 901 patients (2011-2021).

Change in sleep quality Induced by adaptive servo-ventilation for central sleep apnea: 6-month follow-up of the multicenter nationwide French FACIL-VAA cohort.

Background: A large number of symptomatic individuals with central sleep apnea (CSA) in clinical practice have an indication for adaptive servo-ventilation (ASV) therapy.

Research Question: What are the effects of ASV therapy on sleep quality and PROMs in patients with CSA across a range of devices and indications.

Methods: This prospective, multicenter, observational cohort study was conducted in France and enrolled participants from June 2017 to February 2020.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

Impact of caesarean scar defects on the success of assisted human reproduction: the NICHE-ART prospective French cohort study protocol.

Background: The global increase in caesarean sections (CS), currently at 21.1% of all deliveries, has led to a rise in uterine scar defects, or 'niches', at the hysterotomy site. These niches, detectable in 13%-84% of cases via transvaginal ultrasound (TVS) and 42%-84% through sonohysterography (SHG), may contribute to gynaecological complications, including abnormal uterine bleeding, chronic pain and secondary infertility.

Relationship Between Age, Conditioning Intensity, and Outcome After Allografting in Adults Age ≥60 Years with AML.

Methodological advancements now allow older adults with AML to receive allografts although conflicting data exist regarding relative outcomes across age groups and benefits of different conditioning intensities. We retrospectively analyzed 495 adults aged 60-64 (n = 184), 65-69 (n = 189), or ≥ 70 (n = 122) who underwent allogeneic HCT for AML in remission at our institution from 2006 to 2023. There were no significant differences in relapse or relapse-free survival (RFS) among the 3 age cohorts after multivariable adjustment.

Multiomics approaches disclose very-early molecular and cellular switches during insect-venom allergen-specific immunotherapy: an observational study.

Allergen-specific immunotherapy (AIT) induces immune tolerance, showing the highest success rate (>95%) for insect venom while a much lower chance for pollen allergy. However, the molecular switches leading to successful durable tolerance restoration remain elusive. The primary outcome of this observational study is the comprehensive immunological cellular characterization during the AIT initiation phase, whereas the secondary outcomes are the serological and Th2-cell-type-specific transcriptomic analyses.

Anatomical, Functional, and Prognostic Results of Vitrectomy in Epiretinal Membranes Secondary to Retinal Vein Occlusions.

Introduction: We investigated the anatomical and functional results of vitrectomy associated with the peeling of secondary epiretinal membranes (ERM) in patients with retinal vein occlusion (RVO) and determined the prognostic factors of surgical outcomes.

Methods: This retrospective, multicenter, observational study included 50 patients with RVO who underwent vitrectomy with ERM removal between July 2012 and February 2021. Visual acuity (VA) and central macular thickness (CMT) were investigated up to 3 years.