A multidisciplinary non-invasive approach to monitor response to intravenous immunoglobulin treatment in neurodegenerative Langerhans cell histiocytosis: a real-world study.

Aims: Early detection and treatment of neurodegenerative Langerhans cell histiocytosis (ND-LCH) have been suggested to prevent neurodegenerative progression. The aim of the study is to validate a standardized multidisciplinary diagnostic work-up to monitor the intravenous immunoglobulins (IVIG) treatment response and the natural course of the disease in untreated patients.

Methods: Patients with abnormal somatosensory evoked potentials (SEPs) received monthly 0.

Long-term outcome and prognosis of mixed histiocytosis (Erdheim-Chester disease and Langerhans Cell Histiocytosis).

Background: Erdheim-Chester disease (ECD) is a rare histiocytosis that may overlap with Langerhans Cell Histiocytosis (LCH). This "mixed" entity is poorly characterized. We here investigated the clinical phenotype, outcome, and prognostic factors of a large cohort of patients with mixed ECD-LCH.

Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry.

Primary hemophagocytic lymphohistiocytosis (pHLH) is a severe, life-threatening hyperinflammatory syndrome caused by defects in genes of the granule-dependent cytotoxic pathway. Here we investigated the clinical presentation and outcome in a large cohort of 143 patients with pHLH diagnosed in the last 15 years and enrolled in the Italian registry. The median age at diagnosis was 12 months (interquartile range, 2-81), and 92 patients (64%) fulfilled the HLH-2004 criteria.

Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients.

Erdheim-Chester disease (ECD) is a rare histiocytic disorder that can present as a localized infiltration of foamy histiocytes or a multisystem disease that may be life-threatening. It is extremely rare in children. Pegoraro and colleagues present the clinical and molecular features of 21 patients with pediatric ECD through a large international collaboration, documenting that it resembles its adult counterpart, with similar molecular features and responses to agents targeting BRAF and MEK.

Approaching hemophagocytic lymphohistiocytosis.

Hemophagocytic Lymphohistiocytosis (HLH) is a rare clinical condition characterized by sustained but ineffective immune system activation, leading to severe and systemic hyperinflammation. It may occur as a genetic or sporadic condition, often triggered by an infection. The multifaceted pathogenesis results in a wide range of non-specific signs and symptoms, hampering early recognition.

Whole-body magnetic resonance imaging for staging Langerhans cell histiocytosis in children and young adults.

Introduction: Radiographic skeletal survey (R-SS) is the standard imaging technique for the initial staging of Langerhans cell histiocytosis (LCH). Whole-body magnetic resonance imaging (WB-MRI) has been proposed as an effective, radiation-free alternative.

Methods: We prospectively assessed patients with LCH followed at three tertiary centers in Italy and Austria.

Clinicogenomic associations in childhood Langerhans cell histiocytosis: an international cohort study.

Langerhans cell histiocytosis (LCH) is a rare neoplastic disorder caused by somatic genetic alterations in hematopoietic precursor cells differentiating into CD1a+/CD207+ histiocytes. LCH clinical manifestation is highly heterogeneous. BRAF and MAP2K1 mutations account for ∼80% of genetic driver alterations in neoplastic LCH cells.

The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.

Introduction: Stroke-like syndrome (SLS) is a rare subacute neurological complication of intrathecal or high-dose (≥500 mg) Methotrexate (MTX) administration. Its clinical features, evoking acute cerebral ischaemia with fluctuating course symptoms and a possible spontaneous resolution, have elicited interest among the scientific community. However, many issues are still open on the underlying pathogenesis, clinical, and therapeutic management and long-term outcome.

Primary Prevention of Pediatric Asthma through Nutritional Interventions.

Asthma is the most common chronic non-communicable disease in children, the pathogenesis of which involves several factors. The increasing burden of asthma worldwide has emphasized the need to identify the modifiable factors associated with the development of the disease. Recent research has focused on the relationship between dietary factors during the first 1000 days of life (including pregnancy)-when the immune system is particularly vulnerable to exogenous interferences-and allergic outcomes in children.

Breast milk: more than just nutrition!

From an evolutionary and nutritional standpoint, exclusive human milk feeding for the first 6 months of life, with continued breastfeeding for 1 to 2 years of life, is recognized as the gold standard nourishment for the infant: it is a species-specific food, with a composition designed by nature to better respond to the biological and psychological needs of the newborn/infant. Human milk contains many hundreds of bioactive molecules that protect newborn against infection and inflammation and contribute to immune maturation, organ development, and healthy microbial colonization. Compared with formula feeding, breastfeeding has been associated with decreased morbidity and mortality in infants and to lower incidence of gastrointestinal infections and inflammatory, respiratory and allergic disease.

Probiotics in the prevention and treatment of atopic dermatitis.

The use of probiotic supplements might change the composition of the intestinal flora of children, subsequently modulating the immune system's reactivity. The effects of probiotic administration for the prevention/treatment of allergic diseases and atopic dermatitis, in particular, are still so controversial that no definitive recommendation can be made at this stage. Differences in strain specificity, timing, and length of administration all contribute to diversifying the conclusions of this review.

Dietary Interventions and Nutritional Factors in the Prevention of Pediatric Asthma.

Asthma is the most frequent chronic disease in children, and its pathogenesis involves genetic, epigenetic, and environmental factors. The rapid rise in the prevalence of asthma registered over the last few decades has stressed the need to identify the environmental and modifiable factors associated with the development of the disease. In particular, there is increasing interest in the role of modifiable nutritional factors specific to both the prenatal and post-natal early life as, during this time, the immune system is particularly vulnerable to exogenous interferences.

Microbiome Composition and Its Impact on the Development of Allergic Diseases.

Allergic diseases, such as food allergy (FA), atopic dermatitis (AD), and asthma, are heterogeneous inflammatory immune-mediated disorders that currently constitute a public health issue in many developed countries worldwide. The significant increase in the prevalence of allergic diseases reported over the last few years has closely paralleled substantial environmental changes both on a macro and micro scale, which have led to reduced microbial exposure in early life and perturbation of the human microbiome composition. Increasing evidence shows that early life interactions between the human microbiome and the immune cells play a pivotal role in the development of the immune system.

Vitamin D in pediatric health and disease.

Several scientific societies established that vitamin D (VD), in its metabolized form 25(OH)D, levels higher than 20 ng/mL are sufficient to ensure optimal bone health, while 25(OH)D levels higher than 30 ng/mL are needed to favor VD extraskeletal actions. However, it has been estimated that approximately 30% of children and 60% of adults worldwide are VD deficient and insufficient, respectively. This is the reason why it is important to provide a practical approach to VD supplementation for infants, children, and adolescents.