Do SMS/e-mail reminders increase influenza vaccination of rheumatoid arthritis patients under anti-TNF: a nested randomized controlled trial in the ART e-cohort.

Objectives: To evaluate the effectiveness of short message service (SMS) and/or email reminders in improving influenza vaccination coverage rates among rheumatoid arthritis (RA) patients treated with anti-TNF therapies, and to identify factors associated with vaccination.

Methods: A nested randomized controlled trial in the ART e-cohort, an ongoing French nationwide multicentre prospective cohort of RA patients treated with anti-TNF therapy. Patients were 1:1 randomized, with stratification on age.

Liver transplantation in a child with sclerosing cholangitis due to Langerhans cell histiocytosis: a case report.

Background: Langerhans cell histiocytosis (LCH) is a systemic neoplasia with diverse clinical manifestations, predominantly affecting bone and skin. However, in children, LCH presenting primarily with cholestasis is rare.

Case Summary: We present the case of a 22-month-old boy who was admitted to our hospital with a history of intermittent fever and abdominal distension for over 2 months, and jaundice for over 1 month.

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism. To elucidate its role, we study fibroblasts from unaffected individuals and patients carrying the recurring c.328+1 G > T mutation, which specifically removes the main part of the G-patch domain while preserving the other domains.

Development of a novel tool for individual treatment trials in mucopolysaccharidosis.

Mucopolysaccharidosis (MPS) encompasses a group of genetic lysosomal storage disorders, linked to reduced life expectancy and a significant lack of effective treatment options. Immunomodulatory drugs could have the potential to be a relevant medical approach, as the accumulation of undegraded substances initiates an innate immune response, which leads to inflammation and clinical deterioration. However, immunomodulators are not licensed for this indication.

Hellenic Association for the Study of the Liver (HASL): revised clinical practice guidelines for autoimmune hepatitis.

Autoimmune hepatitis (AIH) is a rare liver disease, of unknown origin, characterized by considerable heterogeneity. AIH can affect both sexes, of all ages, ethnicities and races. The revised Clinical Practice Guidelines (CPGs) of the Hellenic Association for the Study of the Liver aim to provide updated guidance to clinicians.

Dental and Craniofacial Anomalies in Fanconi Anemia: A Systematic Review and Additional 46 Reports.

Objective: Fanconi anemia (FA), a rare genetic disorder, has not been comprehensively studied regarding its dental and craniofacial phenotypes. This study aimed to systematically review the available evidence on dental, occlusion, and craniofacial anomalies in individuals with FA and to describe the occurrence of these anomalies in a cohort from two Brazilian referral centers.

Materials And Methods: Electronic searches were conducted across six databases, supplemented by manual searches and gray literature.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. The PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs.

Survey on vitamin D supplementation in children in France: Evaluation of real-life practices following the new 2022 French recommendations.

Background And Objective: In 2022, recommendations for vitamin D supplementation in children were updated in France. The objective of this study was to assess real-life practices of vitamin D supplementation in children following these recommendations.

Methods: A thirty-three-question questionnaire was distributed to members of the scientific societies of paediatrics and general medicine via an online platform.

Real-life use of the PEXIVAS reduced-dose glucocorticoid regimen in granulomatosis with polyangiitis and microscopic polyangiitis.

Background: The PEXIVAS (Plasma exchange and glucocorticoids in severe antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis) trial showed that a reduced-dose glucocorticoid regimen (redGC) was non-inferior to a standard-dose regimen (standGC) with respect to death or end-stage kidney disease (ESKD) in patients with ANCA-associated vasculitis (AAV). However, the primary endpoint did not include disease progression or relapse, cyclophosphamide was the main induction therapy and rituximab (RTX)-treated patients tended to have a higher risk of death or ESKD with redGC. We aimed to evaluate the real-world use of redGC.

Sepsis pathogenesis and outcome are shaped by the balance between the transcriptional states of systemic inflammation and antimicrobial response.

Patients with sepsis differ in their clinical presentations and immune dysregulation in response to infection, but the fundamental processes that determine this heterogeneity remain elusive. Here, we aim to understand which types of immune dysregulation characterize patients with sepsis. To that end, we investigate sepsis pathogenesis in the context of two transcriptional states: one represents the immune response to eliminate pathogens (resistance, R) and the other is associated with systemic inflammation (SI).

Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation.

Cognitive impairment is a common but poorly understood non-motor aspect of Parkinson's disease, negatively affecting patient's functional capacity and quality of life. The mechanisms underlying cognitive impairment in Parkinson's disease are still elusive, limiting treatment and prevention strategies. This study investigates the molecular and cellular basis of cognitive impairment associated with heterozygous mutations in GBA1, the strongest risk gene for Parkinson's disease that encodes glucocerebrosidase (GCase), a lysosome enzyme that degrades the glycosphingolipid glucosylceramide into glucose and ceramide.

Early-onset anorexia nervosa: a scoping review and management guidelines.

Background: Anorexia nervosa (AN) is a serious multifactorial eating disorder characterized by insufficient nutritional intake to maintain a minimum normal weight for one's age and height, a fear of gaining weight and a distorted body image. It affects mainly adolescents, but a decreased age at diagnosis has been reported, leading to the definition of a rare form of AN called early-onset or prepubertal anorexia nervosa (EOAN; ORPHA 525738), with reported epidemiological and clinical specificity. Current knowledge and specific treatments for this particular condition remain scarce.

Pseudohypoaldosteronism type II and sensory neuropathy associated with a heterozygous pathogenic variant in KLHL3 gene, a case report.

Pseudohypoaldosteronism type II is a rare Mendelian disorder characterized by hypertension, hyperkalemia, hyperchloremia and metabolic acidosis, despite a normal glomerular filtration rate. Four genes (, , and ) are associated with this disease. Mutations in the gene cause pseudohypoaldosteronism type II in either an autosomal dominant or a recessive inheritance pattern.