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Aims: Aim of our observational study was to assess the prevalence of allergic contact dermatitis among children and adolescents with type 1 diabetes who use technological devices for diabetes treatment and its management. Secondary outcome was to identify possible clinical and/or demographic variables that could be associated to contact dermatitis., Methods: Among a total of 215 patients using insulin pumps and/or glucose sensors followed-up at our Pediatric Diabetes Centre between January and September 2018, 64 patients were enrolled and 42 (19 male and 23 female) completed the study. Demographic and clinical features of the study population were statistically analysed. All the patients underwent patch testing with specific allergens belonged to resin and acrylate classes., Results: Eighteen patients experienced skin reactions suggestive of allergic contact dermatitis, demonstrating a prevalence of 8.4%. None of the demographic or clinical variables were associated to skin reactions. Colophonium was the most identified sensitizing allergen (87.5% of the cases)., Conclusions: The rate of sensitization to allergens included into diabetes devices among pediatric patients is higher than commonly assumed. Well-designed studies are needed to better investigate the association between type 1 diabetes and allergic contact dermatitis. Moreover, we suggest that manufactures should supply detailed information about adhesives in order to avoid dermatological complications and consequently a worsening of disease management and patients' quality of life., (Copyright © 2020 Elsevier B.V. All rights reserved.)

The aim of this guidance is to provide recommendations to clinicians and other interested parties on chronic urticaria in children. The Italian Society for Pediatrics (SIP), the Italian Society for Allergy and Immunology (SIAIP), the Italian Society for Pediatric dermatology (SIDerP) convened a multidisciplinary panel that prepared clinical guidelines for diagnosis and management of chronic urticaria in childhood. Key questions on epidemiology, natural history, diagnosis, and management were developed. The literature was systematically searched and evaluated, recommendations were rated and algorithms for diagnosis and treatment were developed. The recommendations focus on identification of diseases and comorbidities, strategies to recognize triggering factors, improvement of treatment by individualized care.

Background: The diagnosis of colorectal cancer (CRC) is routinely accomplished through histopathologic examination. Prognostic information and treatment decisions are mainly determined by TNM classification, first defined in 1968. In the last decade, patient-specific CRC genomic landscapes were shown to provide important prognostic and predictive information. Therefore, there is a need for developing next generation sequencing (NGS) and bioinformatic workflows that can be routinely used for the assessment of prognostic and predictive biomarkers., Materials and Methods: To foster the application of genomics in the clinical management of CRCs, the IDEA workflow has been built to easily adapt to the availability of patient specimens and the clinical question that is being asked. Initially, IDEA deploys ad-hoc NGS assays to interrogate predefined genomic target sequences (from 600 kb to 30 Mb) with optimal detection sensitivity. Next, sequencing data are processed through an integrated bioinformatic pipeline to assess single nucleotide variants, insertions and deletions, gene copy-number alterations, and chromosomal rearrangements. The overall results are gathered into a user-friendly report., Results: We provide evidence that IDEA is capable of identifying clinically relevant molecular alterations. When optimized to analyze circulating tumor DNA, IDEA can be used to monitor response and relapse in the blood of patients with metastatic CRC receiving targeted agents. IDEA detected primary and secondary resistance mechanisms to ERBB2 blockade including sub-clonal RAS and BRAF mutations., Conclusions: The IDEA workflow provides a flexible platform to integrate NGS and bioinformatic tools for refined diagnosis and management of patients with advanced CRC., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Targeting HER2 is effective in 24% of ERBB2 amplified metastatic colorectal cancer; however, secondary resistance occurs in most of the cases. We studied the evolution of individual metastases during treatment to discover spatially resolved determinants of resistance. Circulating tumor DNA (ctDNA) analysis identified alterations associated with resistance in the majority of refractory patients. ctDNA profiles and lesion-specific radiographic reports revealed organ- or metastasis-private evolutionary patterns. When radiologic assessments documented progressive disease in target lesions, response to HER2 blockade was retained in other metastases. Genomic and functional analyses on samples and cell models from eight metastases of a patient co-recruited to a postmortem study unveiled lesion-specific evolutionary trees and pharmacologic vulnerabilities. Lesion size and contribution of distinct metastases to plasma ctDNA were correlated., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Unlabelled: The aim of the present study was to retrospectively re-evaluate a population of selected infants with congenital hypothyroidism (CH), in order to investigate whether sexual dimorphism affects: a) CH etiology; b) its biochemical severity at the time of screening and recall; c) patients' biochemical response to replacement treatment during the 1st yr of life; d) their bone maturation (BM) at birth; e) their psychomotor status at 1 yr. This retrospective study covers 192 infants (116 females) with persistent CH who were selected from a larger population of CH patients identified during a 10-yr period (1990-1999) by the screening programs of 5 northern, central, and southern regions of Italy. Thirty boys (39.5%) and 66 girls (56.9%) were found to have ectopia, whereas the remaining 46 boys and 50 girls exhibited the other causes of CH. When compared with the prevalence of the remaining causes that of ectopia was significantly higher in girls than in boys (66/116 vs 30/76; chi2=5.57, p<0.025), and sex ratio in ectopia was significantly different also compared with the orthotopic gland group only (66/84 vs 30/51; chi2=6.02, p<0.025). No differences between males and females were detected in the groups with either athyreosis or orthotopic gland. In no groups were there differences between sexes for gestational age, birth auxological data, percentage of newborns with bone retardation or developmental quotient at 1 yr. Thyroid tests at birth, age at TSH normalization and average thyroid tests under L-T4 treatment during the 1st yr did not differ between sexes in any of the groups., Conclusions: a) in the Italian population sexual dimorphism affects pre-natal thyroid migration but neither biochemical severity of ectopia, nor pre-natal bone maturation and psychomotor development; b) girls with CH do not require higher doses of initial therapy in order to achieve TSH normalization; c) future developmental and molecular studies on ectopia etiology in CH need to take into account the effect of sexual dimorphism.

Literature data on statural growth effect of growth hormone (GH) treatment of children with GH deficiency (GHD) appears disappointing when treatment had late onset. It seems therefore that GH treatment should be started as early as possible, thus requiring early diagnosis. This study was undertaken: 1) to define the main characteristics of early onset GHD which may help the clinician for early diagnosis; 2) to evaluate the effect of a GH treatment on the statural growth of early onset GHD, when treatment is started before 1 year of age. Sixteen children with GHD diagnosed before 1 year of age were included in the study; all of them received a GH treatment before 1 year of age and for a minimal duration of 5 years; four had isolated GHD secondary to a GH gene deletion (type 1A GHD). Based on this series, the main anamnestic and clinical characteristics of early onset GHD are: frequent perinatal pathology, short birth height in more than half of the cases, relatively elevated birth weight in all cases, poor statural growth with neonatal onset, associated signs (hypoglycemia, special facies, micropenis, cryptorchidism, liver dysfunction). The effect of GH treatment (> or = 5 years) on statural growth was limited and transient in children with type 1A GHD, and resulted in an incomplete catch-up growth in children with sporadic GHD, their mean height remaining significantly below their target height.