Search results for "570"

Androglobin, a chimeric mammalian globin, is required for male fertility

2022

AbstractSpermatogenesis is a highly specialised process, involving multiple dedicated pathways and regulatory check-points. Defects ultimately lead to male sub-fertility or sterility, and numerous aspects of mammalian sperm formation remain unknown. The predominant expression of the latest globin family member, androglobin (Adgb) in mammalian testis tissue prompted us to assess its physiological function in spermatogenesis. Adgb knockout mice display male infertility, reduced testis weight, impaired maturation of elongating spermatids, abnormal sperm shape and ultrastructural defects in microtubule and mitochondrial organisation. Epididymal sperm from Adgb knockout animals display multiple …

A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

2017

Abstract Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. …

Molecular evidence of HLA-B27 in a historical case of ankylosing spondylitis

2005

Familial Mediterranean Fever: an unusual cause of liver disease

2019

Abstract Background Familial Mediterranean Fever is an autoinflammatory disease typically expressed with recurrent attacks of fever, serositis, aphthous stomatitis, rash. Only a few reports describe the association with hepatic involvement. Case presentation We describe the clinical case of a child affected, since the age of 1 year, by recurrent fever, aphthous stomatitis, rash, arthralgia, associated with abdominal pain, vomiting, lymphadenopathy. The diagnosis of Familial Mediterranean Fever was confirmed by the genetic study of MEFV gene; the homozygous mutation M694 V in exon was documented. A partial control of attacks was obtained with colchicine. The child continued to manifest only …

Cyberbullying a modern form of bullying: Let's talk about this health and social problem

2018

Abstract Cyberbullying or electronic aggression has already been designated as a serious public health threat. Cyberbullying should also be considered as a cause for new onset psychological symptoms, somatic symptoms of unclear etiology or a drop in academic performance. Pediatricians should be trained to play a major role in caring for and supporting the social and developmental well-being of children.

Health-related quality of life and pain in children and adolescents: A school survey

2016

Background Pain problems are common in children and adolescents. Measures of health-related quality of life (HRQoL) can be used to assess children’s subjective perspectives of pain experience and its impact on their life. The aims of the study were to describe HRQoL and the prevalence of pain in a nonclinical population of children and adolescents, and to analyze the relationships between HRQoL, pain, sex, and age in a sample of children and adolescents aged 8–18 years. Methods This cross-sectional study involved a cluster sample of 20 randomly selected schools drawn within a region of Norway. The final study sample included 1099 children and adolescents. We measured HRQoL using the generic…

Improvement of treatment adherence with growth hormone by easypod™ device: experience of an Italian centre

2018

Abstract Background One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correlation between r-hGH treatment efficacy and adherence in real-life setting using easypod™. Methods Forty patients younger than 18 years, affected by a clinical condition in which r-hGH is available and treated with r-hGH easypod™, were enrolled in a retrospective, observational, real-world data, monocentric trial. The study design provided the retrospective collection of records collected by a questionnaire proposed to the patients and their parents and compared with…

Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents

2021

Abstract Background The lives of many children and adolescents are today increasingly influenced by new technological devices, including smartphones. The coronavirus disease 2019 (COVID-19) pandemic occurred in a time of outstanding scientific progress and global digitalization. Young people had relevant adverse psychological and behavioral effects due to the COVID-19 pandemic, mainly related to infection control measures, which led them to spend more time at home and with major use of technological tools. The goal this study proposes is to evaluate health and social outcomes of smartphone overuse among Italian children and adolescents during the COVID-19 pandemic, analyzing patterns and ai…

Epidemiology of enuresis: a large number of children at risk of low regard

2020

Abstract Aim To describe the epidemiological aspects of nocturnal enuresis (NE). In this study we identify the prevalence and the familial conditions in a large, representative sample of children with monosymptomatic NE (MNE) and nonmonosyptomatic NE (NMNE). Material and methods In this descriptive-analytic study the Italian Society of Pediatrics (SIP) promoted a prevalence study of NE using a questionnaire involved 320 primary care Pediatricians from Northern, Central and Southern Italy, from January 2019 to July 2019, with a total of 130,000 children analyzed by questionnaire related to epidemiology and type of NE, familiarity, quality of sleep, eating and drinking habits, pharmacological…

Stage 4 s neuroblastoma: features, management and outcome of 268 cases from the Italian Neuroblastoma Registry

2019

Background Infants diagnosed with stage 4 s neuroblastoma commonly experience spontaneous disease regression, with few succumbing without response to therapy. We analyzed a large cohort of such infants enrolled in the Italian Neuroblastoma Registry to detect changes over time in presenting features, treatment and outcome. Methods Of 3355 subjects aged 0–18 years with previously untreated neuroblastoma diagnosed between 1979 and 2013, a total of 280 infants (8.3%) had stage 4 s characteristics, 268 of whom were eligible for analyses. Three treatment eras were identified on the basis of based diagnostic and chemotherapy adopted. Group 1 patients received upfront chemotherapy; Group 2 and 3 pa…