Diagnostic value of minor salivary gland biopsy for Sjogren's syndrome in children: a monocentric retrospective study over 10 years.

Objectives: Minor salivary gland biopsy (MSGB) is a minimally invasive test used in suspected autoimmune diseases. Our study goal was to evaluate diagnostic performance of MSGB in children suspected of Sjogren's syndrome (SS).

Methods: We did a retrospective monocentric study on patients under 18 years old who had a MSGB between October 2011 and December 2021 at Bicêtre University Hospital.

The process of memory semantization as the result of interactions between individual, collective, and social memories.

The study of the links between episodic memory (memory of personal experiences) and semantic memory (memory of general knowledge about the world, others, and oneself) has played a significant role in psychology and neuroscience research for several decades. The way memories lose specificity and become semantized over time, and how these two major memory systems interact to represent the individual in the social world and allow to project themselves into the future, are particularly fascinating themes in understanding the mechanisms of autobiographical memory. Numerous studies rely on various memory pathologies, primarily amnesic syndromes but also other disorders where memory impairment is not the main symptom, such as autism spectrum disorders.

SI-MIL: Taming Deep MIL for Self-Interpretability in Gigapixel Histopathology.

Introducing interpretability and reasoning into Multiple Instance Learning (MIL) methods for Whole Slide Image (WSI) analysis is challenging, given the complexity of gigapixel slides. Traditionally, MIL interpretability is limited to identifying salient regions deemed pertinent for downstream tasks, offering little insight to the end-user (pathologist) regarding the rationale behind these selections. To address this, we propose Self-Interpretable MIL (SI-MIL), a method intrinsically designed for interpretability from the very outset.

Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review.

Background: Platelet transfusion is considered the standard treatment for preventing or controlling severe haemorrhage in Glanzmann thrombasthenia (GT). However, platelet transfusion can have detrimental effects, including the production of anti-GPIIb/IIIa isoantibodies or anti-HLA antibodies (Ab) and platelet transfusion refractoriness. Recombinant activated factor VII (rFVIIa) has been proposed as an alternative treatment to platelet transfusion.

Development of a pediatric oral solution of ONC201 using nicotinamide to enhance solubility and stability.

Diffuse intrinsic pontine glioma (DIPG) poses a significant treatment challenge in pediatric patients due to its aggressive nature and difficulty in crossing the blood-brain barrier with effective therapies. ONC201 (dordaviprone) shows promises in inducing apoptosis in cancer cells but suffers from poor water solubility and stability issues. Moreover, conventional solubilizing agents acceptable in formulations intended for adult patients are not suitable for pediatric use.

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.

Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.

A dissociation between the use of implicit and explicit priors in perceptual inference.

The brain constantly uses prior knowledge of the statistics of its environment to shape perception. These statistics are often implicit (not directly observable) and learned incrementally from observation, but they can also be explicitly communicated to the observer, especially in humans. Here, we show that priors are used differently in human perceptual inference depending on whether they are explicit or implicit in the environment.

Too Big to Fail: Volumetric Analyses and Incidence of Posthepatectomy Liver Failure in 125 Major Hepatectomies in Children.

Objective: To assess the incidence of posthepatectomy liver failure (PHLF) and the role of the future liver remnant (FLR) in children undergoing major hepatectomy.

Summary Background Data: Incidence and risk factors of PHLF in children are unclear, with no validated definition for this age group. Consequently, the role of the FLR in pediatric hepatectomy and evidence-based preoperative guidelines remain undefined.

Phenomenology of auto-induced cognitive trance using text mining: a prospective and exploratory group study.

Auto-induced cognitive trance (AICT) is a modified state of consciousness derived from shamanic tradition that can be practised by individuals after specific training. The aim of this work was to characterize the phenomenological experiences of AICT, using text mining analysis. Free recalls of subjective experiences were audio-recorded in 27 participants after five pseudo-randomized experimental sessions: ordinary conscious resting state, with auditory stimulation and with an imaginary mental task, as well as during AICT with and without auditory stimulation.

Does multimodal inpatient treatment help some adolescents with severe ARFID?

Introduction: Avoidant Restrictive Food Intake Disorder (ARFID) is a recently described disorder. Data on inpatient treatment is still scarce, ARFID mainly being an outpatient condition. The purpose of this study is to describe a rare population of adolescents with severe ARFID receiving full-time multimodal inpatient care by examining their clinical characteristics, management, and evolution.

Insights into the virome of Hyalomma marginatum in the Danube Delta: a major vector of Crimean-Congo hemorrhagic fever virus in Eastern Europe.

Background: Ticks are significant vectors of pathogens, including viruses, bacteria, and protozoa. With approximately 900 tick species worldwide, many are expanding their geographical range due to changing socioeconomic and climate factors. The Danube Delta, one of Europe's largest wetlands, is an ecosystem that, despite its ecological importance, remains understudied concerning the risk of introducing new tick-borne viruses.

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.

Clinical relevance and prognostic impact of the classification between multibacillary and paucibacillary forms of cutaneous tuberculosis: A 24-year retrospective multicenter study.

Objectives: Cutaneous tuberculosis (CTB) may be over-diagnosed due to imprecise diagnostic criteria or overlooked where mycobacterial investigations are negative. We evaluated the distinction between multibacillary and paucibacillary forms of CTB, as well as drug resistance and cure rates according to the results of mycobacterial investigations.

Methods: We included retrospectively all patients diagnosed with CTB from 1995 to 2018 in two hospitals in Paris.

Percutaneous cryoablation of abdominal wall endometriosis: a systematic literature review of safety and efficacy.

Purpose: To investigate over 10 years the safety and efficacy of percutaneous cryoablation for the treatment of abdominal wall endometriosis (AWE).

Methods: A systematic review was conducted of literature published between March 2014 and March 2024. Inclusion criteria focused on treatment efficacy studies, while exclusion criteria targeted case reports and studies lacking pertinent outcome data.

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Alcohol consumption and its association with cancer, cardiovascular, liver and brain diseases: a systematic review of Mendelian randomization studies.

Background: The health effects of alcohol consumption, particularly regarding potential protective benefits of light to moderate intake compared to abstinence, remain a subject of ongoing debate. However, epidemiological studies face limitations due to imprecise exposure measurements and the potential for bias through residual confounding and reverse causation. To address these limitations, we conducted a systematic review of Mendelian Randomization (MR) studies examining the causal relationship between alcohol consumption and cancers, cardiovascular, liver, and neurological diseases.

ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis.

Systemic lupus erythematosus (SLE) is an autoimmune disease, the pathophysiology and genetic basis of which are incompletely understood. Using a forward genetic screen in multiplex families with SLE, we identified an association between SLE and compound heterozygous deleterious variants in the non-receptor tyrosine kinases (NRTKs) and . Experimental blockade of ACK1 or BRK increased circulating autoantibodies in vivo in mice and exacerbated glomerular IgG deposits in an SLE mouse model.

Similar Kinetics of Pulmonary SARS-CoV-2 Load in Intensive Care Unit Patients with COVID-19 Pneumonia with or Without Autoantibodies Neutralizing Type I Interferons.

Purpose: The pathogenesis of life-threatening coronavirus disease 2019 (COVID-19) pneumonia in ICU patients can involve pre-existing auto-antibodies (auto-Abs) neutralizing type I interferons (IFNs). The impact of these auto-Abs on SARS-CoV-2 clearance in the lower respiratory tract (LRT) is unclear.

Methods: We performed a retrospective study in 99 ICU patients with COVID-19 pneumonia between March and May 2020.