Search results for "Pediatria"
showing 10 items of 692 documents
Genome-wide diversity of Pagliarola sheep residual population and its conservation implication
2021
Local breeds represent an underestimated resource in terms not only of their important cultural and economical role in marginal areas, but also because they often own a potential genetic pool well adapted to extreme conditions. This fact is of increasing interest, especially when considering climate global challenges where peculiar and uncommon traits could be advantageous. In this study, we genotyped 24 individuals belonging to the small residual Pagliarola sheep population using the OvineSNP50K array, in order to compare its genomic architecture with other 21 Italian local breeds. Moreover, we performed the fixation index (FST) outlier analysis to identify genes most differentiated betwee…
Rickets as Precocious Sign of Celiac Disease
2016
Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians. Objective and hypotheses: Explain clinical severity by a genetic background. Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (108 Cent), 12.5 kg (3–108 Cent); PH1B1. She showed typical rickets-linked signs (costochondral swelling; Harrison’s groove; genu varum; widening of wrist; skull bossing). She underwent a total-body X-ray study that showed: poor bone mineralization, femurs bowing; rachitic rosary; curved back; wrist and malleolus cupping. She had anamnestic reco…
ASSOCIATION BETWEEN CELIAC DISEASE AND ENDOCRINE AUTOIMMUNE PATHOLOGIES
2013
Lissencephalic syndromes: brain and beyond
2009
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. It is defined as a smooth or nearly smooth cerebral surface with absence of normal sulci and gyria. It encompasses a group of syndromes which show many different clinical conditions. Four groups are actually distinguished: classic lissencephaly variants, other lissencephalies including forms with unknown pathogenesis, microlissencephaly spectrum and Cobblestone cortical malformations. Several genes and proteins are involved in this syndromic spectrum and each year new mol…
The Economic Burden of Child Maltreatment in High Income Countries.
2015
Maltreatment is a common cause of children’s functional and emotional impairment. Costs for the society are high, as a substantial amount of resources have been allocated for various types of services connected to maltreatment of children. These include acute treatment, long-termcare, family rehabilitation programs, and judiciary activities.There is a long-lasting debate on how child abuse could be prevented or reduced. How can the costs of related services be contained? What is the role of pediatricians in such efforts? This article raises these important questions within the framework of the debate opened by the article by Gerber-Grote et al regarding the role of health economics in impro…
Canakinumab in Systemic Juvenile Idiopathic Arthritis: Clinical Inactive Disease Rate and Safety in Italian Patients
2020
Introduction: Systemic juvenile idiopathic arthritis (sJIA) accounts for 10-20% of all patients with JIA. The demonstration of a key role of IL-1 and IL-6 in the pathogenesis of the disease, led to consider sJIA an autoinflammatory disease: this explain the successfully use of IL-1 and IL-6 inhibitors. While the efficacy and safety of anakinra in sJIA is widely documented, there are no reports on large series of patients treated with canakinumab outside of the setting of clinical trials. Objectives: The aim of this study was to evaluate clinical response rate and disease course of canakinumab in Italian cohort of patients with sJIA. Methods: This is a retrospective multicenter study. Demogr…
Successful control of an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae sequence type 258 in a neonatal inte…
2013
This article reports an outbreak of colonization by Klebsiella pneumoniae carbapenemase-producing K. pneumoniae (KPC-Kp) sequence type (ST) 258 in a neonatal intensive care unit (NICU) in Palermo, Italy. KPC-Kp ST258 was detected by an active surveillance culture programme. Between 18th September and 14th November 2012, KPC-Kp was isolated from 10 out of 54 neonates admitted in the outbreak period. No cases of infection were recorded. Male sex was associated with colonization, whereas administration of ampicilline-sulbactam plus gentamicin was protective. Infection control interventions interrupted the spread of KPC-Kp without the need to close the NICU to new admissions. (C) 2013 The Healt…
Corneal thickness and intraocular pressure in pediatric patients with Celiac disease or Inflammatory Bowel Disease
Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in…
2021
Abstract Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clini…
Work environment, volume of activity and staffing in neonatal intensive care units in Italy: results of the SONAR-nurse study
2016
Background Neonatal units’ volume of activity, and other quantitative and qualitative variables, such as staffing, workload, work environment, care organization and geographical location, may influence the outcome of high risk newborns. Data about the distribution of these variables and their relationships among Italian neonatal units are lacking. Methods Between March 2010-April 2011, 63 neonatal intensive care units adhering to the Italian Neonatal Network participated in the SONAR Nurse study. Their main features and work environment were investigated by questionnaires compiled by the chief and by physicians and nurses of each unit. Twelve cross-sectional monthly-repeated surveys on diff…