Gastrointestinal and Intra-Abdominal Mucormycosis in Non-Haematological Patients-A Comprehensive Review.

Intra-abdominal and gastrointestinal mucormycosis are less frequent than rhino-orbito-cerebral and pulmonary mucormycosis, but highly lethal. Their diagnosis remains challenging due to the non-specific clinical presentation. We collected English-language cases of intra-abdominal and gastrointestinal mucormycosis in non-haematological and non-neonatal patients published up to October 2024.

Calculating the fraction of Kawasaki disease potentially attributable to seasonal pathogens: a time series analysis.

Background: Kawasaki disease is an acute, febrile, systemic vasculitis of children that primarily affects medium-sized blood vessels with a tropism for the coronary arteries. Although the etiological factors remain unknown, infections have been suggested as the trigger of Kawasaki disease. We sought to calculate the fraction of Kawasaki disease potentially attributable to seasonal infections.

Five Functional Aspects of the Epidermal Barrier.

The epidermis is a living, multilayered barrier with five functional levels, including a physical, a chemical, a microbial, a neuronal, and an immune level. Altogether, this complex organ contributes to protect the host from external aggression and to preserve its integrity. In this review, we focused on the different functional aspects.

Machine Learning Approaches in Study of Multiple Sclerosis Disease Through Magnetic Resonance Images.

Multiple sclerosis (MS) is one of the most common autoimmune diseases which is commonly diagnosed and monitored using magnetic resonance imaging (MRI) with a combination of clinical manifestations. The purpose of this review is to highlight the main applications of Machine Learning (ML) models and their performance in the MS field using MRI. We reviewed the articles of the last decade and grouped them based on the applications of ML in MS using MRI data into four categories: 1) Automated diagnosis of MS, 2) Prediction of MS disease progression, 3) Differentiation of MS stages, 4) Differentiation of MS from similar disorders.

Coronavirus Disease 2019 Pandemic: Impact Caused by School Closure and National Lockdown on Pediatric Visits and Admissions for Viral and Nonviral Infections-a Time Series Analysis.

A time series analysis of 871 543 pediatric emergency visits revealed that the coronavirus disease 2019 (COVID-19) lockdown and school closures were associated with a significant decrease in infectious diseases disseminated through airborne or fecal-oral transmission: common cold, gastroenteritis, bronchiolitis, and acute otitis. No change was found for urinary tract infections.

Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired Immunodeficiencies.

Primary infection with varicella-zoster virus (VZV) causes chickenpox, a benign and self-limited disease in healthy children. In patients with primary or acquired immunodeficiencies, primary infection can be life-threatening, due to rapid dissemination of the virus to various organs [lung, gastrointestinal tract, liver, eye, central nervous system (CNS)]. We retrospectively described and compared the clinical presentations and outcomes of disseminated varicella infection (DV) in patients with acquired (AID) (= 7) and primary (PID) (= 12) immunodeficiencies.

A comparison of individual and ecological indicators of social deprivation and their association with hospital efficiency in the context of infectious diseases in two French general paediatric departments.

Background: To identify deprivation indicators usable in everyday practice and included in medico-administrative databases, particularly with infectious diseases, which represent the greatest proportion of hospitalizations. Our objective was to compare ecological indicators to individual questionnaires and apply both types to the study of the impact of deprivation on hospital efficiency.

Methods: We conducted an epidemiological observational prospective multicentre study in two French public hospitals between 20 October 2016 and 20 March 2017.

A deep intronic splice mutation of underlies hyper IgE syndrome by negative dominance.

Heterozygous in-frame mutations in coding regions of human underlie the only known autosomal dominant form of hyper IgE syndrome (AD HIES). About 5% of familial cases remain unexplained. The mutant proteins are loss-of-function and dominant-negative when tested following overproduction in recipient cells.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR vaccines can be caused by inborn errors of type I and/or III interferon (IFN) immunity (mutations in , , or ). Adverse reactions to the YF vaccine have remained unexplained.

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies.

Circulating cell-free BRAF as a biomarker in children with Langerhans cell histiocytosis.

The BRAF mutation is reported in half of patients with Langerhans cell histiocytosis (LCH). This study investigated the detection of the BRAF allele in circulating cell-free (ccf) DNA in a paediatric LCH cohort. Children with BRAF -mutated LCH were investigated to detect ccf BRAF at diagnosis (n = 48) and during follow-up (n = 17) using a picolitre-droplet digital PCR assay.

Mammalian target of rapamycin inhibition counterbalances the inflammatory status of immune cells in patients with chronic granulomatous disease.

Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective production of reactive oxygen species in phagocytic cells that results in life-threatening infections and severe inflammatory manifestations. The treatment of inflammatory manifestations remains challenging because it can be associated with an increased risk of infections. Previous studies have shown that phagocytes from patients with CGD display a defect in autophagy and a reactive oxygen species-independent activation of the inflammasome.

Coronary artery abnormalities in children with systemic-onset juvenile idiopathic arthritis.

Still's disease (Systemic-onset Juvenile Idiopathic Arthritis: SoJIA) is characterised by high-spiking daily fevers, arthritis and evanescent rashes. Diagnosis of Still's disease is often challenging. Infectious diseases and other inflammatory conditions, especially in young children, Kawasaki disease may look similar.