Search

Objectives: An increased frequency of celiac disease (CeD) has been reported in severe Immunoglobulin E (IgE) -mediated food allergy (FA). This observation requires confirmation, and whether CeD affects FA severity and resolution is unknown. The study aims to estimate the prevalence of CeD in patients with FA and to investigate whether CeD affects FA severity and oral tolerance. Methods: Consecutive patients with FA referred for allergen reintroduction, either to evaluate allergy resolution or to start oral immunotherapy (OIT), were evaluated for CeD and for FA severity. The primary outcome was the prevalence of CeD. Secondary outcomes were the frequency of severe FA and the level of clinical tolerance at study entry and at last follow-up in patients with isolated FA versus patients with FA + CeD. Results: Two hundred twenty-eight patients were included. CeD was confirmed in 15 patients (6.6%) of whom, 8 patients had a previously established diagnosis of CeD and were on a gluten-free diet. Severe FA was observed in 12 patients with FA + CeD (80%) versus 88 patients with FA (42%) ( P = 0.006). At baseline, patients with FA + CeD had significantly higher median allergen-specific IgE levels [61.8 kU/L; interquartile range (IQR) 11.6-279.0] compared to patients with FA (20.3 kU/L; IQR 2.9-72.7) ( P < 0.001). Complete clinical tolerance was observed in 1 of 15 patients (7%) with FA + CeD versus 98 of 205 patients (48%) with FA ( P = 0.002). Conclusions: CeD is highly prevalent in patients with FA and could affect FA severity and response to OIT. CeD screening should be considered in patients with severe or persistent FA.

Background & aims: Up to 15% inflammatory bowel diseases (IBD) rising before the age of 6 years, defined as Very-Early-Onset IBD (VEO-IBD), may have a monogenic disease. More rarely monogenic defects are found in later onset IBD. Monogenic IBD are associated with high morbidity and mortality and timely genetic diagnosis is essential for adequate treatment. Due to the wide phenotypic and genetic heterogeneity of these conditions, it is often difficult to reach a genetic diagnosis and the best diagnostic approach is still debated. Next generation sequencing (NGS) techniques have been proposed as a screening tool especially in patients with poorly defined phenotypes. In a cohort study that included patients with VEO-IBD and Early-onset IBD with severe/atypical phenotypes (EO-IBD s/a) we aimed to: describe the genetic diagnoses and their therapeutic implications, define the clinical characteristics associated with monogenicity, suggest a diagnostic approach to monogenic IBD. Methods: Clinical information of patients with VEO-IBD and EO-IBD s/a referred to 3 Italian Centers for a genetic work-up over 10 years (2008-2017) were collected. From 2015 newly diagnosed patients and patients without a previous genetic diagnosis were screened using NGS, except patients with disease specific features in whom candidate gene analysis was chosen. Results: 93 patients were collected and 14 (15%) reached a genetic diagnosis. Selective sequencing was performed in 47 patients (50%), NGS in 84 patients (90%). Causative defects were revealed by NGS in 5 patients (NOD2, TTC37, DKC1, XIAP, FERMT3) and candidate sequencing in 8 patients (2WAS, CYBA, CYBB, FOXP3, 2CD40L, XIAP). In 8 of 9 patients diagnosed with candidate sequencing, the analysis was guided by the presence of disease specific features. One patient, with unspecific presentation, underwent sequential sequencing of multiple genes over 15 months before reaching the diagnosis (XIAP). NGS identified a new NOD2 mutation previously missed with single gene approach. One patient with WAS, in whom Sanger sequencing had not revealed mutations, was diagnosed externally through WGS which revealed a large genomic inversion. Genetic diagnosis impacted patient management in 10 patients (71%): 6 underwent bone marrow transplant (2XIAP, 2WAS, 2CD40L, FOXP3), 1 gene therapy, 2 anti-infective prophylaxis and 1 introduced danazole (DKC1). Patients with monogenic IBD more frequently had a history of infections (71%vs30%; p

La buona professione ha le sue basi nella conoscenza della materia e nell’impegno (e nella fatica) di tenerla aggiornata. Ma, nella pratica quotidiana, molto contano anche altri tesori, accumulati, giorno dopo giorno, attraverso il continuo embricarsi del sapere con l’esperienza personale. È questa personalissima, individuale, ricchezza che costituisce in concreto la nostra identità professionale. E che ci aiuta a utilizzare il sapere stesso nel modo più efficace (trucchi del mestiere), a svolgere la professione in maniera pronta (colpo d’occhio) e ancor più a farlo con sicurezza: sapendo evitare (o riducendo al massimo del possibile) gli errori che più comunemente vengono commessi. Questo testo si propone di condividere un po’ dell’esperienza macinata dagli autori, tradotta in messaggi e promemoria pratici, direttamente fruibili. Può essere letto a piccole dosi, un trucco o una diagnosi a colpo d’occhio o un errore alla volta. E forse conviene farlo proprio così. Ogni argomento è presentato, già dal titolo, quasi come uno slogan. Ma viene anche approfondito con la discussione di un caso reale o qualche nota ed esperienza della letteratura. Conciso e completo nello stesso tempo.

not available

Up to 15% of children with Down syndrome have atlanto-axial instability (AAI) due to constitutional ligament hyperlaxity. Symptomatic disease occurs in 3% of patients: most frequently neurological symptoms of spinal cord compression slowly progress over time but complications from vertebral dislocation can manifest with sudden painful torticollis. While asymptomatic cases require no intervention, symptomatic cases are at risk for irreversible neurological damage and require prompt recognition and surgical stabilization of cervical spine. The paper describes the case of a 10-year-old girl with Down syndrome and AAI who presented with painful torticollis caused by rotatory dislocation of C1-C2. Torticollis was initially misdiagnosed as myogenic. Vertebral dislocation was recognized one month after the onset of symptoms and appropriately managed with surgical stabilization of cervical spine.

Hemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune response. HLH is not a disease by its own but is rather a common final consequence of an inherited or acquired inability of the immune system to cope with a trigger, which in most cases is an infection. HLH in autoinflammatory and autoimmune conditions is usually termed macrophage activation syndrome (MAS) and can be as severe as other forms of HLH. In absence of treatment HLH has a high mortality rate due to the overwhelming immune activation, and early recognition with prompt immunosuppressive treatment may be life saving. The paper presents four cases of HLH/MAS: each one has a different underlying cause and shows a possible presenting picture of the disease, helping paediatrician to recognize it.

Epistaxis is very common in children and usually originates from small anastomotic vessels in the anterior septum as a consequence of local trauma. In most cases bleeding is self-limiting and can be easily managed with direct compression of the nasal ala. Recurrent episodes of epistaxis might be difficult to manage definitively and often raise concern about possible bleeding disorders. The paper discusses the initial assessment and management of epistaxis in children, including when to suspect a systemic cause and when to refer to the ear, nose and throat specialist.

The aim of this study was to evaluate the interaction between gastrointestinal (GI) disorders, sleep problems, and challenging behaviors in children with a diagnosis of Autism Spectrum Disorder (ASD) and their effect on parental stress. The secondary objective was to assess the frequency and type of GI and feeding disorders in a sample of children with ASD through a multidisciplinary assessment and, finally, to investigate families’ perceptions and satisfaction with the proposed multidisciplinary approach. All children underwent a comprehensive gastroenterological and neuropsychiatric evaluation supported by standardized questionnaires. Pediatric gastroenterologists, specifically trained in Applied Behavior Analysis (ABA), provided advice for parent-delivered behavioral intervention for food selectivity. Thirty-six children with an autism diagnosis (29 males, age 4.5 +/−2.2 years, mean +/− SD) were enrolled. A positive correlation between sleep problems and aggressive behavior was found, and this association was stronger in children experiencing more problematic mealtime behaviors (b = 0.788, p = 0.014). Sleep difficulties were associated with stereotyped behaviors and parent-perceived stress. Parents interviewed about the gastroenterology visit perceived this multidisciplinary approach as helpful in addressing food selectivity. This study shows that sleep and mealtime issues can have a synergistic negative impact on ASD symptoms. A multidisciplinary approach and an integrated assessment of GI, feeding problems, and sleep disorders could be helpful in diagnosing comorbidities and to provide targeted advice to parents.