SLC10A7 regulates O-GalNAc glycosylation and Ca homeostasis in the secretory pathway: insights into SLC10A7-CDG.

Glycans are known to be fundamental for many cellular and physiological functions. Congenital disorders of glycosylation (CDG) currently encompassing over 160 subtypes, are characterized by glycan synthesis and/or processing defects. Despite the increasing number of CDG patients, therapeutic options remain very limited as our knowledge on glycan synthesis is fragmented.

Reconstruction of trunk debridement after necrotizing fasciitis complicating varicella lesions with NovoSorb biodegradable temporizing matrix and skin graft: A pediatric case report.

This clinical case report describes the reconstructive management of a child who developed a rare aggressive soft tissue infection - necrotizing fasciitis - complicating varicella skin lesions, with a synthetic dermal regenerative template - NovoSorb Biodegradable Temporizing Matrix - in conjunction with a split thickness meshed skin graft. The scarcity of this clinical case, the need to cover large skin defect promptly while facing infectious and pediatric challenges make it interesting to describe NovoSorb Biodegradable Temporizing Matrix in addition to split thickness meshed skin graft a novel treatment in necrotizing fasciitis of the child. A rapid surgical treatment followed by this reconstructive strategy achieved an acceptable functional and aesthetic result, with timely healing despite the severity and extensive surface area of the infection.

The influence of time and implants in high-dose rate image-guided adaptive brachytherapy for locally advanced cervical cancer.

Purpose: To compare the clinical outcomes of two different schedules of modern image-guided adaptive brachytherapy (IGABT) in patients underwent chemoradiotherapy (CCRT) and high-dose rate (HDR) brachytherapy (BT) for locally advanced cervical cancer treated (LACC) METHODS AND MATERIALS: Data from medical records of all consecutive patients with histologically proven cervical cancer (FIGO 2018 stage IB-IVA) treated by HDR-BT after CCRT at our institution between 2016 and 2021 were reviewed.

Results: Two hundred and 8 patients with LACC FIGO 2018 stages (IB 20.7%; II 26.

[Extramedullary hematopoiesis, a rare complication of sickle cell disease: A six-case series and literature review].

Introduction: Extramedullary hematopoiesis (EMH) is very rarely described during sickle cell disease (SCD). Our aim was to describe six cases of EMH occurring in adult SCD patients and to conduct a literature review.

Methods: Retrospective, descriptive, and monocentric study, identifying all cases of EMH recorded in our cohort of adult SCD patients, up to April 2024.

Benefit and Harms of Radical Nephroureterectomy as Part of a Multimodal Treatment Strategy for Upper Tract Urothelial Carcinoma Patients Presenting with Clinical Evidence of Regional Lymph Node Metastasis: A Systematic Review and Meta-analysis by the European Association of Urology Guidelines.

Background And Objective: Given the uncertainty regarding the role of radical nephroureterectomy (RNU) as part of a multimodal treatment strategy for upper tract urothelial carcinoma (UTUC) patients with cN+ disease, we aimed to perform a systematic review and meta-analysis of the corresponding literature.

Methods: Using the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, we identified 17 observational comparative and noncomparative studies, published between January 2000 and September 2024, evaluating UTUC patients with cTanyN+M0 disease (P) who received RNU as part of a multimodal treatment strategy (I), as compared with any treatment strategy if applicable (C), to assess oncological or postoperative outcomes (O). Meta-analyses were further performed, as appropriate.

genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations.

Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.

Impact of vaginoplasty on sexual health and satisfaction in transgender women.

Background: Demand for gender-affirming surgery (GAS) is rising. The main objective of this surgery is the creation of a perineo-genital complex that appears and functions as femininely as possible, with a sensitive clitoris and a vagina capable of receptive intercourse. Penile skin inversion is currently regarded as the gold standard technique.

A new quantitative reverse transcription PCR assay to improve the routine diagnosis of paracoccidioidomycosis.

Paracoccidioides are dimorphic fungal pathogens and the etiological agents of paracoccidioidomycosis (PCM). This severe systemic mycosis is restricted to Latin America, where it has been historically endemic. Currently, PCM presents the fewest diagnostic tools available when compared to other endemic mycoses.

Study protocol for an international registry observational study evaluating clinical outcomes of transcatheter versus standard surgical mitral valve operation for secondary mitral regurgitation: the TEERMISO study.

Background: Secondary mitral regurgitation (SMR) is a condition affecting the left ventricle (LV) rather than the mitral valve (MV). If the MV remains structurally unchanged, enlargement of the LV or impairment of the papillary muscles can occur. Several mechanical interventions are available to dictate the resolution of MR.

Do continuous glucose monitoring (CGM) metrics predict macrovascular and microvascular complications in diabetes? The FACULTY protocol of a retrospective real-world cohort study.

Introduction: Glycated haemoglobin (HbA1c) is currently the gold standard for assessing glycaemic control in diabetes, given the established relationship with microvascular and macrovascular complications in this condition. However, HbA1c is affected by non-glycaemic factors, while also failing to provide data on hypoglycaemic exposure and glucose variability, which are associated with adverse vascular outcomes. Continuous glucose monitoring (CGM)-derived glucose metrics provide a more comprehensive assessment of glycaemia, but their role in predicting future vascular complications remains unclear.

Description of Borderline Personality Disorder Hospitalizations for Adolescents and Adults in France Between 2013 and 2022: A Nationwide Retrospective Study.

Borderline personality disorder (BPD) is a frequent disorder with high mental health care utilization. This study aims to describe BPD hospitalization in France: using the French national hospitals database from 2013 to 2022, regarding sociodemographic factors and hospitalization characteristics. In total, this study included 121,235 patients.

Harmonization of alcohol use data and mortality across a multi-national HIV cohort collaboration.

Background: Alcohol use is measured in diverse ways across settings. Harmonization of measures is necessary to assess effects of alcohol use in multi-cohort collaborations, such as studies of people with HIV (PWH).

Methods: Data were combined from 14 HIV cohort studies (nine European, five North American) participating in the Antiretroviral Therapy Cohort Collaboration.

The protein ingredient quality of infant formula influences colonic physiology and microbiota and the serum metabolomic profile in neonatal mini-piglets.

Despite the WHO recommendations in favor of breastfeeding, most infants receive infant formulas (IFs), which are complex matrices involving numerous ingredients and processing steps. Our aim was to understand the impact of the quality of the protein ingredient in IFs on gut microbiota and physiology, blood metabolites and brain gene expression. Three IFs were produced using whey proteins (WPs) from cheese whey (IF-A) or ideal whey (IFs-C and -D) and caseins, either in a micellar form (IFs-A and -C) or partly in a non-micellar form (IF-D).

Wine tasting Demystified: Celebrating Professor Wendy Parr's contribution to the understanding of wine tasting and wine tasters - An Introduction.

Our goal in putting together this special issue was twofold: First, to honour the remarkable career of Professor Wendy Parr and her contribution to the understanding of wine tasting and wine tasters and second, to continue to raise awareness of the importance of the cognitive approach in the wine scientific literature. We present Professor Wendy Parr's insightful reflections on her distinguished career, including her early ventures into psychology and the experiences that shaped her contributions. These are complemented by a concise historical perspective on the evolution of wine sensory science, providing context for her work.

Micellar casein and sodium caseinate supramolecular structure differently impacts subsequent food intake in pigs.

Dietary protein reduces energy intake in following meals by signaling directly or indirectly to the brain. We recently observed differences in plasma amino acid kinetics and intra-gastric behavior between micellar casein (MC) and sodium caseinate (SC) in pigs, two factors that impact food intake. Our objective was to clarify whether the supramolecular structure of casein, given as a preload to pigs, impacts on subsequent food intake.

Bench scale Layer-by-Layer microencapasulation of Lactiplantibacillus plantarum WCFS1.

Layer-by-Layer (LbL) self-assembly encapsulation is a promising technology for the protection and delivery of lactic acid bacteria. However, laboratory-scale encapsulation is often time-consuming, involves intensive protocols tailored for small-scale operations, requires substantial amounts of energy and water, and results in a low yield of encapsulated biomass. Scaling-up this process to a bench-bioreactor scale is not simply a matter of increasing culture volume as different key parameters (not particularly relevant at lab scale) become critical, including biomass production, the number of polymer layers, and the biomass-to-polymer mass ratio.

Dual functionalization of carboxymethyl cellulose and alginate via Passerini three-component reaction to graft two hydrophobic moieties: Toward modular thin films.

Passerini reaction was advantageously exploited to hydrophobize carboxymethyl cellulose (CMC) and alginates (ALG) by employing various hydrophobic aldehydes and isocyanides. The Passerini reaction, carried out in ecofriendly conditions, allowed to design never described twofold hydrophobized polysaccharide derivatives via the covalent grafting of two hydrophobic moieties. The modified CMC and ALG products were in-depth characterized to guaranty the success of the modification and to calculate the degrees of substitution (DS).

Cardiovascular events observed among patients in the etrasimod clinical programme: an integrated safety analysis of patients with moderately to severely active ulcerative colitis.

Objective: Etrasimod is an oral, once-daily, selective sphingosine 1-phosphate (S1P) receptor modulator for the treatment of moderately to severely active ulcerative colitis (UC). S1P receptor expression on cardiac cells is involved in cardiac conduction. We report cardiovascular treatment-emergent adverse events (TEAEs) associated with S1P receptor modulators and other cardiovascular events in the etrasimod UC clinical programme.

Efficacy and safety of the PHIL embolic agent in the treatment of intracranial dural arteriovenous fistulas: results of the PHIL-dAVF study.

Background And Purpose: Embolization is the first-line treatment for dural arteriovenous fistulas (dAVF). The precipitating hydrophobic injectable liquid (PHIL) embolic agent is a non-adhesive copolymer with specific features and endovascular behavior. This study assessed its safety and efficacy in a prospective real-life cohort.

Safety of steroids in severe community-acquired pneumonia.

The systemic use of corticosteroids for patients with severe community-acquired pneumonia (sCAP) remains controversial in clinical practice, particularly in terms of the safety profile of these drugs. This narrative review aims to analyse the available literature data concerning the safety of short-term steroid use in the treatment of sCAP, while also highlighting potential future research directions. Several trials and meta-analyses have evaluated corticosteroid therapy as an adjuvant treatment for sCAP, yielding heterogeneous results regarding its efficacy and safety.