Assessment of respiratory function in children after kidney transplantation.

Background: Severe respiratory complications following kidney transplantation have been reported, yet remain poorly understood in the pediatric population. This study aimed to document respiratory disease in this population.

Methods: At annual follow-ups, patients completed a respiratory symptoms questionnaire and underwent pulmonary function tests (PFTs).

PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' series.

Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.

Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).

Early treatment discontinuation in patients with deficient mismatch repair or microsatellite instability high metastatic colorectal cancer receiving immune checkpoint inhibitors.

Background: Immune checkpoint inhibitors (ICIs) are recommended to treat patients with deficient mismatch repair/microsatellite instability high (dMMR/MSI-H) metastatic colorectal cancer (mCRC). Pivotal trials have fixed a maximum ICI duration of 2 years, without a compelling rationale. A shorter treatment duration has the potential to improve patients' quality of life and reduce both toxicity and cost without compromising efficacy.

Simple reaction time to visual and auditory stimulation in glaucoma.

Background/objectives: Glaucoma can impact the ability to perform daily life activities such as driving. In such tasks, reaction time is critical to detect hazards. Understanding the modalities that affect response times is thus essential for clinical care.

Intrahepatic levels of microbiome-derived hippurate associates with improved metabolic dysfunction-associated steatotic liver disease.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterised by lipid accumulation in the liver and is often associated with obesity and type 2 diabetes. The gut microbiome recently emerged as a significant player of liver metabolism and health through the production of bioactive compounds that are beneficial for its host - "postbiotics". Circulating hippurate, a host-microbial co-metabolite produced by conjugating microbial benzoate with glycine in the host-liver, is associated with human gut microbial gene richness and with metabolic health.

Impact of Spatial Representation on the Quality of Prosthodontic Procedures.

Background: The correlation between the three-dimensional spatial representation (3DSR) abilities, specifically involving spatial orientation, spatial visualisation and spatial relationship, and the performance in exercises related to preclinical practical exams in fixed prosthodontics and removable partial denture is not studied.

Objective: Assess the correlation between the 3DSR abilities and the performance in exercises related to preclinical practical exams in fixed prosthodontics and removable partial denture carried out by second and third year dental students.

Materials And Methods: The 3DSR abilities (spatial orientation, spatial visualisation and spatial relationship) and the scores of preclinical practical exams in prosthetics were tested on 187 students.

Tatton-Brown-Rahman syndrome: a new multiple endocrine neoplasia syndrome with intellectual disability?

We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a pituitary cyst at age 14, adrenal tumor at age 21, and metastatic insulinoma at age 34. In addition, she showed intellectual disability, obesity, multiple lipomas, facial dysmorphia, hemihypertrophy and kyphoscoliosis.

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.

Long-Term Clinical and Biological Prognostic Factors of Anti-NMDA Receptor Encephalitis in Children.

Background And Objectives: Anti-NMDAR encephalitis (NMDARE) is a severe neurologic condition, and recently, the NMDAR Encephalitis One-Year Functional Status (NEOS) score has emerged as a 1-year prognostic tool. This study aimed to evaluate NEOS score and biomarker (neurofilament light chains [NfL], total-Tau protein, glial fibrillary acidic protein, and serum cytokines) correlation with modified Rankin Scale (mRS), cognitive impairment, and clinical recovery in pediatric NMDARE over 2 years.

Methods: In this French multicenter observational study, 104 pediatric patients with NMDARE were followed for a minimum of 2 years.

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.

Pituitary adenomas in children: surgical course and functional outcome. Lille cohort retrospective study.

Context: Pituitary Neuroendocrine Tumors are rare in children, but challenging, implying the two purposes to cure the child, and preserve pituitary function. In this paper, we describe our population of children who underwent endoscopic endonasal resection of a pituitary adenoma, in Lille University Hospital.

Patients And Methods: Between 2007 and 2021, all children undergoing EEN surgery for pituitary adenoma were included.

Lasting and extensive consequences of left mesial temporal lobe seizures on electrical cortical activity.

Background And Objectives: Focal epilepsies disrupt long-range networks with seizure recurrence driving both regional and global alterations in connectivity networks. While prior studies have focused on the interictal consequences, limited data exist on the direct aftermath of focal seizures. We hypothesize that mesial temporal lobe seizures lead to enduring cortical disorganization.

Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy.

Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.

Methods of nivolumab administration in advanced melanoma: A comparison of patients' clinical outcomes treated with flat dose or weight-adjusted dose, a multicenter observational study.

Background: Nivolumab obtained approval in advanced melanoma (AM) with weight-adjusted dose (WAD) administration (3 mg/kg/2 weeks). In 2018, the dosage regimen was changed to flat dose (FD) administration (240 mg/2 weeks or 480 mg/4 weeks) based on a modeling study, without clinical data.

Methods: AM patients have been prospectively included in the French national multicenter MelBase database since 2013.

Convalescent plasma in patients receiving rituximab or ocrelizumab for multiple sclerosis or neuromyelitis Optica spectrum disorder with Covid-19: A multicenter retrospective study.

Background: Despite vaccination, patients receiving anti-CD20 monoclonal antibodies (mAbs) for multiple sclerosis (MS) or neuromyelitis optica spectrum disorders (NMOSD) have an increased risk of developing severe or protracted COVID-19. The aim of this study was to describe the effect of COVID-19 convalescent plasma (CCP) in patients with MS or NMOSD exposed to anti-CD20 and infected by SARS-CoV-2.

Methods: This French national, retrospective cohort study was conducted between November 2020 and June 2023.

International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical Appraisal.

Introduction: Evidence-based clinical practice guidelines drive optimal patient care and facilitate access to high-quality treatment. Creating guidelines for rare diseases such as haemophilia, where evidence does not often come from randomized controlled trials but from non-randomized and well-designed observational studies and real-world data, is challenging. The methodology used for assessing available evidence should consider this critical fact.

Inhibition of furin in CAR macrophages directs them toward a proinflammatory phenotype and enhances their antitumor activities.

Chimeric antigen receptor (CAR)-T-cell therapy has revolutionized cellular immunotherapy, demonstrating remarkable efficacy in hematological cancers. However, its application in solid tumors faces significant challenges, including limited T-cell infiltration and tumor-induced immunosuppression. Given the prominent role of macrophages in the tumor microenvironment, their phenotypic plasticity and inherent antitumor properties, such as phagocytosis, offer a promising avenue for therapeutic intervention.

Home self-management of type 2 diabetes with diabetes technologies in northern France: a focused ethnographic study protocol.

Introduction: Type 2 diabetes is a chronic condition associated with impaired glucose tolerance and a high prevalence of comorbidity, polypharmacy and medication safety incidents. Little is known about the patient work associated with using diabetes management technologies by patients and their informal caregivers at home. This study aims to apply a systems engineering approach to better understand this work.