Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa.

Sporadic Hidradenitis Suppurativa (spHS) is a multifactorial disease in which genetic predisposition is intertwined with environmental factors. Due to the still to date limited knowledge of spHS genetics, we calculated Polygenic scores (PGS) to study the genetic underpinnings that contribute to spHS within European demographic. 256 spHS patients and 1686 healthy controls were analyzed across 6 European clinical centers.

Lung ultrasound evaluation in people with cystic fibrosis: A new approach in the pulmonology outpatient clinic.

Background: Cystic fibrosis (CF) is a genetic disease that causes progressive lung disease with major impact on the quality of life. Lung ultrasound (LUS) allows to assess the lung involvement through the artefacts analysis and is increasingly used in children but is not yet used to monitor people with CF(pwCF). The main aim of this study was to describe the LUS pattern of pwCF during their routinary check-up visit.

A very rare cause of pre-capillary pulmonary hypertension: The PAMI syndrome.

We report the first known case of PAMI syndrome associated with pulmonary arterial hypertension (PAH) with a positive response to cyclophosphamide and pulmonary vasodilators. The patient's history began at 7 months with severe pancytopenia and fever. As time progressed, migrating arthritis, hepatosplenomegaly, and a growth deficit manifested without a plausible explanation.

Informed consent in minor and intermediate pediatric elective surgery: results of an in-house questionnaire.

Background: The aim of this study was to evaluate the quality of our surgical informed consent and parents'/guardians' late recall of surgical procedures and risks of elective day surgery after pre-operative interview with surgeons.

Methods: All parents/guardians of patients <18 years of age undergoing minor and intermediate elective procedures from January 15th to September 1st, 2022, were prospectively enrolled in the study. Before discharge, parents/guardians were asked to complete an in-house questionnaire regarding the duration of the consent procedure, duration of the interview, quality of the informative handouts, and their ability to recall the type of disease, type of surgical procedure, and surgical risks.

Robotic-assisted surgery in pediatrics: what is evidence-based?-a literature review.

Background And Objective: The use of robotic-assisted surgery (RAS) has increased more slowly in pediatrics than in the adult population. Despite the many advantages of robotic instruments, the da Vinci Surgical System (Intuitive Surgical, Sunnyvale, CA, USA) still presents some limitations for use in pediatric surgery. This study aims to examine evidence-based indications for RAS in the different fields of pediatric surgery according to the published literature.

A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis.

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent around 40% of total HS cases and show an autosomal dominant mode of inheritance of the disease. In this study, we conducted a whole-exome sequence analysis on an Italian family of 4 members encompassing a vertical transmission of HS.

Oxygen-enriched oleic matrix (NovoX) for wound healing in pediatric patients undergoing open surgical treatment for pilonidal disease: Preliminary experience.

Introduction: Pilonidal disease (PD) is a common infectious and inflammatory condition affecting the gluteal cleft and sacrococcygeal region. The optimal treatment for PD remains controversial. While the open technique reduces the number of relapses compared to minimally invasive approaches, it is associated with a longer healing time.

Nurses' Perceptions of the Quality of Procedural Sedation in Children Comparing Different Pharmacological Regimens.

Nurses play a pivotal role during pediatric procedural sedation and their perspective is an important indicator for the quality of care. The aim of this study is to examine nurses' satisfaction comparing four different pharmacological regimens used for pediatric sedation outside of the operating room. A prospective observational study was conducted in a third-level pediatric teaching hospital, involving all the nurses with experience in the field of pediatric procedural sedation.

Ultrasonographic Assessment for Tenosynovitis in Juvenile Idiopathic Arthritis with Ankle Involvement: Diagnostic and Therapeutic Significance.

Background: The role of musculoskeletal ultrasound in JIA is still controversial, although there is growing evidence on its utility, especially in the diagnosis of tenosynovitis.

Methods: We presented a retrospective cross-sectional study of a group of patients with JIA with ankle swelling followed in a Pediatric Rheumatology Service of a tertiary-level pediatric hospital in Northern Italy during the follow-up period between January 1st 2003 and December 31st 2019. Preliminary results have been presented at the EULAR Congress 2021.

Recovery characteristics and parental satisfaction in pediatric procedural sedation.

Background: Despite being a standard of care for children undergoing stressful procedures, little data exist on parental perception of pediatric sedation.

Aims: This study aimed to investigate recovery characteristics and parental satisfaction for pediatric sedations performed with four widely used sedative regimens.

Methods: A prospective observational study was conducted at the Institute for Maternal and Child Health of Trieste, Italy, enrolling children undergoing procedural sedation with one of the following pharmacological regimens: propofol, propofol + midazolam, ketamine + propofol, and dexmedetomidine + midazolam.

Invasive Infections Associated with the Use of Probiotics in Children: A Systematic Review.

Although the effectiveness of probiotics has only been proven in specific conditions, their use in children is massively widespread because of their perception as harmless products. Recent evidence raises concerns about probiotics' safety, especially but not only in the paediatric population due to severe opportunistic infections after their use. This review aimed at summarising available case reports on invasive infections related to probiotics' use in children.

Case Report: Use of Anakinra in Multisystem Inflammatory Syndrome During COVID-19 Pandemic.

During COVID-19 outbreak, a large number of children with severe inflammatory disease has been reported. This condition, named Pediatric Multi-inflammatory Syndrome temporally associated with COVID-19 (PIMS-TS) or Multisystem Inflammatory Syndrome associated with Coronavirus Disease 2019 (MIS-C), shares some clinical features with Kawasaki disease and is frequently complicated by myocarditis or shock. It has been suggested that MIS-C belongs to the group of cytokine storm syndromes triggered by SARS-CoV-2 infection.

Management of reduced vaccine coverage due to 6 years of failure to vaccinate: The Codroipo case, Italy.

During 2017 an alert was raised in relation to a possible vaccination failure occurred in Friuli Venezia Giulia Region (Italy) between 2009 and 2015, exposing multiple cohorts of children and the entire community to vaccine preventable diseases outbreak risk. The Codroipo case resulted in 20,441 vaccine doses being in doubt, thus prompting the healthcare system to react in order to revaccinate 5444 children through planning and implementing network actions and multiple channels of communication.

What Are the Targets of Inflammatory Bowel Disease Management.

With recent evidence suggesting that keeping the inflammatory process under tight control prevents long-term disability, the aim of treatments in inflammatory bowel disease (IBD) has shifted from symptom control toward the resolution of bowel inflammation. Mucosal healing is currently recognized as the principal treatment target to be used in a "treat to target" paradigm, whereas histologic healing and normalization of biomarkers are being evaluated as potential future targets. Although symptom relief is no longer a sufficient target, patient experience with the disease is of unquestionable importance and should be assessed in the form of patient-reported outcomes, to be used as a co-primary target with an objective measure of disease activity.

Flares After Withdrawal of Biologic Therapies in Juvenile Idiopathic Arthritis: Clinical and Laboratory Correlates of Remission Duration.

Objective: To assess the time in remission after discontinuing biologic therapy in patients with juvenile idiopathic arthritis (JIA).

Methods: We enrolled 135 patients followed in 3 tertiary-care centers. The primary outcome was to assess, once remission was achieved, the time in remission up to the first flare after discontinuing treatment.

Therapeutic Drug Monitoring in Pediatric IBD: Current Application and Future Perspectives.

Background: as the paradigm for IBD management is evolving from symptom control to the more ambitious goal of complete deep remission, the concept of personalized medicine, as a mean to deliver individualized treatment with the best effectiveness and safety profile, is becoming paramount. Therapeutic drug monitoring (TDM) is an essential part of personalized medicine and its role in the management of IBD patients is rapidly expanding.

Objective: to review the current knowledge that poses the rationale for the use of TDM, and the present and future role of TDM-based approaches in the management of pediatric IBD.

The Italian Society for Pediatric Nephrology (SINePe) consensus document on the management of nephrotic syndrome in children: Part I - Diagnosis and treatment of the first episode and the first relapse.

This consensus document is aimed at providing an updated, multidisciplinary overview on the diagnosis and treatment of pediatric nephrotic syndrome (NS) at first presentation. It is the first consensus document of its kind to be produced by all the pediatric nephrology centres in Italy, in line with what is already present in other countries such as France, Germany and the USA. It is based on the current knowledge surrounding the symptomatic and steroid treatment of NS, with a view to providing the basis for a separate consensus document on the treatment of relapses.

Clinical significance of hyper-IgA in a paediatric laboratory series.

The causes of extremely elevated IgA, whether isolated or associated with an increase in other classes of immunoglobulin, are poorly defined in paediatrics. We reviewed the diagnostic significance of very high IgA levels (greater than 3 SD above the mean for age) in a cohort of patients referred to a tertiary care children's hospital. Hyper-IgA was found in 91 of 6364 subjects (1.