The dilemma of X-linked agammaglobulinemia carriers.

Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.

Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.

New onset of protein-losing enteropathy in a patient with Fontan circulation after COVID-19 vaccination: dread the cure or the disease?

We present the case of a 31-year-old female with Fontan circulation who developed signs of protein-losing enteropathy 10 days after second COVID-19 vaccination. After standard investigations for identification of potential triggers for protein-losing enteropathy, we concluded that coronavirus disease 2019 (COVID-19) booster vaccination could have been the most probable underlying trigger. Prompt investigation of new symptoms post-vaccination in high-risk patients is necessary.

New Treatment Regimens, New Drugs, and New Treatment Goals for Lupus Nephritis.

Lupus nephritis is one of the most severe manifestations of systemic lupus erythematosus, affecting roughly 40% of all lupus patients. With the introduction of cyclophosphamide and mycophenolate mofetil, outcomes have dramatically improved. However, 10% of patients still progress towards end-stage kidney disease, which carries an elevated mortality rate.

Adolescents with Persistent Symptoms Following Acute SARS-CoV-2 Infection (Long-COVID): Symptom Profile, Clustering and Follow-Up Symptom Evaluation.

Background: Few studies have evaluated long-COVID in adolescents.

Methods: Cohort study. Demographics, clinical data, and the presence of 30 symptoms were collected with a modified WHO form.

Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome.

Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS.

The role of IgE sensitisation in acute FPIES: A systematic review and meta-analysis.

Background: Evidence on the role of IgE sensitisation in acute Food Protein-Induced Enterocolitis Syndrome ('atypical FPIES') is limited. Initial reports claimed association with persistent disease, however recent studies have not replicated this.

Objective: To systematically review the relationship between sensitisation to the culprit food(s) in acute FPIES and the outcome of follow-up oral food challenges.

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

Effectiveness of eHealth literacy interventions: a systematic review and meta-analysis of experimental studies.

Background: eHealth Literacy (eHL) is a set of competencies and skills encompassing the knowledge, comfort and perceived ability to identify, evaluate and apply electronic health information to health problems. Given its role in the appropriate use of health technologies, ensuring equitable access to health information and improving patient outcomes, this study aims to systematically retrieve, qualitatively and quantitative pool and critically appraise available experimental evidence on the effectiveness of eHL interventions across different population groups.

Methods: Following the PRISMA guidelines, we conducted a systematic review in PubMed/Medline, Scopus, Web of Science, Embase, Cochrane Library and ClinicalTrials.

Distinct pro-inflammatory/pro-angiogenetic signatures distinguish children with Long COVID from controls.

Background: Recent proteomic studies have documented that Long COVID in adults is characterized by a pro-inflammatory signature with thromboinflammation. However, if similar events happen also in children with Long COVID has never been investigated.

Methods: We performed an extensive protein analysis of blood plasma from pediatric patients younger than 19 years of age Long COVID and a control group of children with acute COVID-19, MIS-C, and healthy controls resulted similar for sex distribution and age.

Identification of an immunological signature of long COVID syndrome.

Introduction: Acute COVID-19 infection causes significant alterations in the innate and adaptive immune systems. While most individuals recover naturally, some develop long COVID (LC) syndrome, marked by persistent or new symptoms weeks to months after SARS-CoV-2 infection. Despite its prevalence, there are no clinical tests to distinguish LC patients from those fully recovered.

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Background And Hypothesis: ATP6V1B1 encodes a subunit of the vacuolar H+-ATPase and pathogenic variants are associated with autosomal recessive distal renal tubular acidosis (dRTA) with deafness. Heterozygous variants predicted to affect a specific amino acid, Arg394, have been recurrently reported in dRTA but their significance has been unclear. We hypothesised that these variants are associated with a dominant disease mechanism.

A new epidemic wave of Bordetella pertussis in paediatric population: impact and role of co-infections in pertussis disease.

Background: In recent months, Bordetella pertussis has reappeared after maintaining a low rate for many years. Although pertussis is usually characterized by a favorable course, several factors can contribute to the severity of the disease, such as mixed respiratory infections. In this study, we evaluate B.

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

Objectives: To assess the lung involvement in patients with Still's disease, an inflammatory disease assessing both children and adults. To exploit possible associated factors for parenchymal lung involvement in these patients.

Methods: A multicentre observational study was arranged assessing consecutive patients with Still's disease characterized by the lung involvement among those included in the AIDA (AutoInflammatory Disease Alliance) Network Still's Disease Registry.

Severity trend of recurrence in pediatric Food Protein-Induced Enterocolitis Syndrome (FPIES).

Background: Reintroduction of offending food in pediatric patients affected by Food Protein-Induced Enterocolitis Syndrome (FPIES) is carried out in hospitals with Oral Food Challenge (OFC), which leads to long waiting time and increases the societal burden of medical cost and human resources.

Objective: The aim of the study is to assess severity trend of acute FPIES adverse reactions over time in the same patient for possible outpatient or home reintroduction of offending food.

Methods: All children (<18 years-old) with a diagnosis of acute FPIES referred to 2 Italian pediatric allergy clinics were retrospectively enrolled.

Clinical characteristics and predictive factors of thrombotic complications in children with acute mastoiditis: a single center retrospective study.

Among acute mastoiditis (AM) complications, cerebral venous sinus thrombosis (CVST) is particularly severe, leading to increased intracranial pressure and potential neurological sequelae. Predicting the development of such complications is challenging. The aims of the present study were to evaluate the incidence, clinical characteristics, and risk factors for the development of CVST in AM.

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.

Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.

Anakinra improves retention rate of targeted treatments in Erdheim-Chester disease.

Objective: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that exhibits a wide spectrum of clinical manifestations. The recent identification of activating mutations in the MAPK-ERK pathway in patients with ECD has led to the introduction of targeted therapies. The most commonly used targeted therapies are BRAF- and MEK-inhibitors, which are highly effective but also carry significant toxicity.

Effectiveness and Safety of Adalimumab in Patients With Very Early-Onset Inflammatory Bowel Disease: A Retrospective Study on Behalf of the Porto Inflammatory Bowel Disease Working Group of European Society for Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: Patients with very early-onset inflammatory bowel disease (VEO-IBD), with an age of onset < 6 years, can present with severe manifestations and may require biologic therapy. Infliximab and adalimumab are approved for induction and maintenance in pediatric IBD patients but are licensed only above the age of 6 years. Effectiveness and safety data on adalimumab in this patient population are lacking.

Critical Issues in the Management of CRMS/CFSPID Children: A National Real-World Survey.

Background: Notwithstanding guidance from the European Cystic Fibrosis (CF) Society (ECFS) neonatal screening (NBS) working group, significant variation persists in the evaluation and management of Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) subjects, leaving many aspects of care under debate. This study reports the results of a national survey investigating management and treatment approaches of pre-school CFSPIDs in Italy.

Methods: In February 2024, a comprehensive questionnaire was distributed to all Italian CF centers.

Allergen immunotherapy in Italy: How, when, and why-A real-world study conducted through a patient association.

Background: Allergen immunotherapy (AIT) is the only treatment that modifies the natural course of allergies. However, AIT is only used in some eligible patients, is frequently underused, and only a few studies investigated this aspects. Understanding AIT utilization patterns might disclose information about why it is underused, thus providing valuable insights on how to broaden the positive impact it can have on the population.

Off-Label Use of Anakinra in Inflammatory Conditions in Neonates and Infants Up to 3 Months of Age: A Case Series and a Review of the Literature.

Background: Anakinra is an interleukin-1 receptor antagonist (IL-1Ra). Since IL-1 has been shown to play a key role in the etiology of different autoinflammatory diseases, blocking its pathway has become an important therapeutic target, even in neonates.

Aims: We aimed to report our experience in using anakinra to treat specific neonatal inflammatory conditions.