Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase () gene and a history of multiple tumors, including recurrent Epstein-Barr virus (EBV)-related nodular sclerosis and Hodgkin's lymphoma (NSHL), associated with unresponsive multiple hand warts, immune thrombocytopenia, and an impaired immunological profile (CD4+ lymphocytopenia, memory B-cell deficiency, reduction in regulatory T-cells, and B-cell- and T-cell-activated profiles).

Assessment of HL7 FHIR Interoperability Between EHR Systems and the Survivorship Passport v2.0 Platform to Generate Treatment Summaries for Childhood Cancer Survivors in Six Clinics: Preliminary Testing Results.

The Survivorship Passport (SurPass) for childhood cancer survivors provides a personalized treatment summary together with a care plan for long-term screening of possible late effects. HL7 FHIR connectivity of Electronic Health Record (EHR) systems with the SurPass has been proposed to reduce the burden of collecting and organizing the relevant information. We present the results of testing and validation efforts conducted across six clinics in Austria, Belgium, Germany, Italy, Lithuania, and Spain.

Nerve Sheath Myxoma in Pregnancy: A Case Report.

Nerve sheath myxoma (NSM) is a rare benign peripheral nerve sheath tumor that affects young adults. NSMs are asymptomatic, slow-growing swellings located in the upper extremities, more rarely in the lower extremities. Given the high risk of recurrence, it is recommended to perform a complete exeresis.

Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders.

This study identifies a new chronic form of immune neutropenia in the young with or without detectable indirect anti-neutrophil antibodies, characterized by mild/moderate neutropenia low risk of severe infection (14%), tendency to develop autoimmune phenomena over the course of the disease (cumulative incidence of 58.6% after 20 years of disease duration), leukopenia, progressive reduction of absolute lymphocyte count and a T- and B-cell profile similar to autoimmune disorders like Sjogren syndrome, rheumatoid arthritis, and systemic lupus erythematosus (increased HLADR+ and CD3 + TCRγδ cells, reduced T regulatory cells, increased double-negative B and a tendency to reduced B memory cells). In a minority of patients, P/LP variants related to primary immuno-regulatory disorders were found.

European recommendations for short-term surveillance of health problems in childhood, adolescent and young adult cancer survivors from the end of treatment to 5 years after diagnosis: a PanCare guideline.

Purpose: Childhood, adolescent and young adult (CAYA) cancer survivors require ongoing surveillance for health problems from the end of cancer treatment throughout their lives. There is a lack of evidence-based guidelines on optimal surveillance strategies for the period from the end of treatment to 5 years after diagnosis. We aimed to address this gap by developing recommendations for short-term surveillance of health problems based on existing long-term follow-up (LTFU) care guidelines.

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis.

Background: Evans syndrome (ES) is a rare disorder classically defined as the simultaneous or sequential presence of autoimmune haemolytic anaemia and immune thrombocytopenia, but it has also been described as the presence of at least two autoimmune cytopenias. Recent reports have shown that ES is often a manifestation of an underlying inborn error of immunity (IEI) that can benefit from specific treatments.

Aims: The aim of this study is to investigate the clinical and immunological characteristics and the underlying genetic background of a single-centre cohort of patients with ES.

Thalassaemia is paradoxically associated with a reduced risk of in-hospital complications and mortality in COVID-19: Data from an international registry.

Although numerous patient-specific co-factors have been shown to be associated with worse outcomes in COVID-19, the prognostic value of thalassaemic syndromes in COVID-19 patients remains poorly understood. We studied the outcomes of 137 COVID-19 patients with a history of transfusion-dependent thalassaemia (TDT) and transfusion independent thalassaemia (TIT) extracted from a large international cohort and compared them with the outcomes from a matched cohort of COVID-19 patients with no history of thalassaemia. The mean age of thalassaemia patients included in our study was 41 ± 16 years (48.

Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.

Objective: Mevalonic aciduria represents the most severe form of mevalonate kinase deficiency (MKD). Patients with mevalonic aciduria have an incomplete response even to high doses of anti-cytokine drugs such as anakinra or canakinumab and stem cell transplantation (SCT) represents a possible therapy for this severe disease.

Methods: We report the first two children affected by severe MKD who received haploidentical α/β T-cell and B-cell depleted SCT.

Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency.

In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented. Mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) protein are associated with common variable immunodeficiency, autoimmunity, chronic enteropathy, and immune dysregulation disorders. The LRBA protein prevents degradation of cytotoxic T-lymphocyte antigen 4 (CTLA4) protein, thus inhibiting immune responses.

Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil.

Immunological dysregulation may underlie unusual autoimmune diseases, which also deserve to be investigated from a genetic point of view.

FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.

Autoimmune lymphoproliferative syndrome (ALPS) is a congenital disorder that results in an apoptosis impairment of lymphocytes, leading to chronic lymphoproliferation and autoimmunity, mainly autoimmune cytopenias. FAS gene defects are often responsible for the disease, the phenotype of which can vary from asymptomatic/mild forms to severe disease. More rarely, defects are associated to  other genes involved in apoptosis pathway, such as CASP10.

Predictors of renal complications in pediatric patients with type 1 diabetes mellitus: A prospective cohort study.

Aims: Diabetic Nephropathy (DN) is rarely encountered in childhood, otherwise early subclinical abnormalities are detectable few years after diabetes diagnosis. Our aim was to evaluate the incidence rate of microalbuminuria in childhood onset type 1 diabetes (DM1) patients. Secondary aim was to examine which variables could influence the development of DN.

[ECG for non-competitive sports in childhood: strengths and disputes].

Background: Sport is very important for health promotion and conservation. Active lifestyle and regular exercise reduce cardiovascular disease incidence. The Italian Ministry of Health issued the Law Decree no.

Toxicity of Bacillus thuringiensis var. israelensis in aqueous suspension on the South American common frog Leptodactylus latrans (Anura: Leptodactylidae) tadpoles.

The effects of commercial formulations of Bacillus thuringiensisvar.israelensis (Bti) on non-target organisms are still a matter of debate; in amphibians, the risks of Bti are little known. To evaluate the toxicity of a commercial liquid (aqueous suspension, AS) formulation of Bti (Introban(®)) on Leptodactylus latrans tadpoles, including median lethal concentration (LC50) and no-and lowest-observed-effect concentrations (NOEC and LOEC, respectively), as well as the possible effects of Bti on oxidative responses, erythrocytes genotoxicity, and histology of the intestines.

Rational design of a culture medium for the intensification of lipid storage in Chlorella sp. Performance evaluation in air-lift bioreactor.

An optimal medium to culture Chlorella sp., microalgae capable of storage intracellular lipids was obtained. This culture medium consists of a saline base plus carbon-energy and nitrogen sources.

Significant factors selection in the chemical and enzymatic hydrolysis of lignocellulosic residues by a genetic algorithm analysis and comparison with the standard Plackett-Burman methodology.

A comparison between the classic Plackett-Burman design (PB) ANOVA analysis and a genetic algorithm (GA) approach to identify significant factors have been carried out. This comparison was made by applying both analyses to data obtained from the experimental results when optimizing both chemical and enzymatic hydrolysis of three lignocellulosic feedstocks (corn and wheat bran, and pine sawdust) by a PB experimental design. Depending on the kind of biomass and the hydrolysis being considered, different results were obtained.

Application of response surface methodology and artificial neural networks for optimization of recombinant Oryza sativa non-symbiotic hemoglobin 1 production by Escherichia coli in medium containing byproduct glycerol.

Production of recombinant Oryza sativa non-symbiotic hemoglobin 1 (OsHb1) by Escherichia coli was maximized in shake-flask cultures in media containing tryptone, yeast extract, sodium chloride and byproduct glycerol from biodiesel production. Response surface methodology (RSM) and artificial neural networks (ANNs), followed by multiple response optimization through a desirability function were applied to evaluate the amount of OsHb1 produced. The results obtained by the application of ANNs were more reliable since better statistical parameters were obtained.

Application of response surface methodology and artificial neural networks for optimization of recombinant Oryza sativa non-symbiotic hemoglobin 1 production by Escherichia coli in medium containing byproduct glycerol.

Production of recombinant Oryza sativa non-symbiotic hemoglobin 1 (OsHb1) by Escherichia coli was maximized in shake-flask cultures in media containing tryptone, yeast extract, sodium chloride and byproduct glycerol from biodiesel production. Response surface methodology (RSM) and artificial neural networks (ANNs), followed by multiple response optimization through a desirability function were applied to evaluate the amount of OsHb1 produced. The results obtained by the application of ANNs were more reliable since better statistical parameters were obtained.

Suitability of buttermilk for fermentation with Lactobacillus helveticus and production of a functional peptide-enriched powder by spray-drying.

Aim: To ferment buttermilk, a low-cost by-product of the manufacture of butter, with a proteolytic strain of Lactobacillus helveticus, to enhance its value by the production of a functional peptide-enriched powder.

Methods And Results: Buttermilk was fermented with Lact. helveticus 209, a strain chosen for its high proteolytic activity.

Purification and characterization of a glutathione reductase from Phaeodactylum tricornutum.

Glutathione reductase (E.C.1.

[Management of maxillofacial injuries in an emergency unit: our experience].

Maxillofacial injuries are relatively frequent. These may be complicated by cranioencephalic injuries or large facial wounds. We report our experience with the initial management of these lesions in an emergency unit setting.