Evaluation of Fitness and the Balance Levels of Children with a Diagnosis of Juvenile Idiopathic Arthritis: A Pilot Study

Background: Juvenile idiopathic arthritis is a main cause of physical disability and has high economic costs for society. The purpose of this study was to assess the fitness levels and the postural and balance deficits with a specific test battery. Methods: Fifty-six subjects were enrolled in this study. Thirty-nine healthy subjects were included in the control group and seventeen in the juvenile idiopathic arthritis group. All subjects were evaluated using a posturography system. The fitness level was evaluated with a battery of tests (Abalakov test, sit-up test, hand grip test, backsaver sit and reach, the toe touch test). An unpaired t-test was used to determine differences. Pearson's correlation coefficient was used to evaluate the correlation between the tests. Results: The battery of tests demonstrated that subjects in the juvenile idiopathic arthritis group have lower fitness levels compared to the control group. The juvenile idiopathic arthritis group showed low postural control with respect to the control group. Pearson analysis of the juvenile idiopathic arthritis group data showed significant correlations between variables. Pearson's results from the control group data showed a similar trend. Conclusions: The results suggest that the battery of tests used could be an appropriate tool. However, we highlight that these conclusions need to be supported by other studies with a larger population scale

Vitamin D in Prevention of Autoimmune Diseases

Vitamin D is essential for the regulation of the immune system. In recent years, the role of vitamin D in the control of several autoimmune conditions such as inflammatory bowel disease (IBD), celiac disease, type 1 diabetes mellitus (T1DM), and others has been investigated. The aim of this review was to define the level of knowledge on vitamin D's role in these disorders, as well as the preventive and therapeutic role of vitamin D supplementation. Relevant studies published over the last 20 years were identified via a PubMed/Medline (http://www.ncbi.nlm.nih.gov/pubmed/) search using the keywords: vitamin D, autoimmune disease, and prevention. Vitamin D deficiency or impaired function of the enzymes necessary for its activity has been shown to affect the onset and severity of the autoimmune diseases examined. Vitamin D supplementation appears useful in the support therapy of IBD. Its role in celiac disease, autoimmune hepatitis, T1DM, and autoimmune thyroiditis is unclear. In conclusion, further studies are needed to define whether vitamin D is a cause or a result of the most common autoimmune, extra-skeletal diseases, such as IBD. Vitamin D should be provided to all newborns during their first year of life. Afterwards, the vitamin D supplementation regimen should be tailored to the presence of risk factors for vitamin D deficiency and/or specific disease

Providing pediatric well-care and sick visits in the COVID-19 pandemic era: the recommendations of the Italian pediatric society

Pediatricians have observed a significant decrease in in-person child health visits during the COVID-19 pandemic. In the post lockdown period, the coronavirus trend remains positive in Italy but fears of a second wave have recently grown in Italy due to active hotbeds of contagion. The pandemic may negatively affect the care of pediatric patients and overall children welfare as it may present with severe signs and symptoms or it may complicate. The Italian Pediatric Society recommend to separate well visits from sick ones, to educate families and to promote hygienic strategies to provide an adequate pediatric assistance in case of a second pandemic wave

Facial masks in children: the position statement of the Italian pediatric society

Facial masks may be one of the most cost-effective strategies to prevent the diffusion of COVID 19 infection. Nevertheless, fake news are spreading, alerting parents on dangerous side effects in children, such as hypercapnia, hypoxia, gut dysbiosis and immune system weakness. Aim of the Italian Pediatric Society statement is to face misconception towards the use of face masks and to spread scientific trustable information

Comparison of Postural Features and Muscle Strength between Children with Idiopathic Short Stature and Healthy Peers in Relation to Physical Exercise

Previous research has reported that children with idiopathic short stature (ISS) showed functional and cognitive impairments. The purpose of this study was to compare muscle strength and body posture between children with ISS treated with growth hormone (GH) and healthy peers (healthy children, HC), and to analyze whether these parameters were affected by physical exercise. Eighteen children for the ISS group (mean age: 10.96 ± 1.68 years) and 26 children for the HC group (mean age: 10.19 ± 1.06 years) were recruited for the study. All participants performed the following assessments: handgrip and Sargent test for the muscle strength evaluation; baropodometric and stabilometric test for the posturographic measures. Data were analyzed with analysis of covariance (ANCOVA) using height and weight as covariate. Groups were then stratified into active and inactive and independent t-tests were used to determine differences between variables. Significance level was set to p < 0.05. Our results showed a significantly lower performance for both hands (p < 0.01) and a greater difference of plantar loading distribution between feet in the ISS compared to the HC groups (p < 0.01). In relation to physical exercise, the HC active group showed the highest handgrip strength values for both hands among the analyzed groups and, moreover, handgrip strength of both ISS active and inactive groups was significantly lower than corresponding CH peers for both hands. Although ISS and HC inactive groups reported an unequal plantar loading distribution between feet (p < 0.05), this asymmetry was not present in both ISS and HC active groups. We assume that GH therapy integrated with physical exercise in young patients with ISS could be suggested to increase muscle strength and body posture improving their quality of life

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

Background: Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation: We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations' identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements in Array-CGH test, while gene panel sequencing identified a new hemizygous variant of uncertain significance (c.887G > A; p.Arg296Gln) in the MED12 gene, located on the X chromosome and inherited from the healthy mother. Conclusion: No other reports about the involvement of MED12 gene in syndromic conotruncal heart defects are actually available from the literature and the international genomic databases. This novel variant is a likely pathogenic variant of uncertain significance and it could broaden the spectrum of genes involved in the development of congenital heart diseases and the phenotypic range of MED12-related disorders

Intestinal Involvement in Kawasaki Disease

To describe a case of Kawasaki disease with intestinal involvement and to analyze other published reports to define clinical characteristics, diagnostic issues, and therapeutic approaches of gastrointestinal involvement in Kawasaki disease

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases

Background: Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient's demographic data, clinical history, and health services requirements. Methods: Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals. Results: Seventy-two percent of patients admitted to ED were affected by a previously defined medical condition. Most of the ED admissions were children with syndromic conditions (54%). 44.2% of the ED admissions were registered during the night-time and/or at the weekends. The hospitalization rate was of 45.6% among patients admitted to the ED. The most common reason for admission to the ED was the presence of respiratory symptoms (26.6%), followed by gastrointestinal problems (21.3%) and neurological disorders (18.2%). 51.4% of the access were classified as 'urgent', with a red/yellow triage code. Considering the type of ED, 61.9% of the visits were conducted at the Pediatric EDs (PedEDs), 33.5% at the Functional EDs (FunEDs) and 4.6% at the Dedicated EDs (DedEDs). Patients with more complex clinical presentation were more likely to be evaluated at the PedEDs. CSHCN underwent to a higher number of medical procedures at the PedEDs, more in comparison to other EDs. Children with medical devices were directed to a PedED quite exclusively when in need for medical attention. Subjects under multiple anti-epileptic drug therapy attended to PedEDs or FunEDs generally. Patients affected by metabolic diseases were more likely to look for medical attention at FunEDs. Syndromic patients mostly required medical attention at the DedEDs. Conclusions: Access of CSHCN to an ED is not infrequent. For this reason, it is fundamental for pediatricians working in any kind of ED to increase their general knowledge about CHSCN and to gain expertise in the management of such patients and their related medical complexity

Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study

<p>Abstract</p> <p>Background</p> <p>Hypospadias is a congenital displacement of the urethral meatus in male newborns, being either an isolated defect at birth or a sign of sexual development disorders. The aim of this study was to assess the prevalence rate of hypospadias in different Districts of Italy, in order to make a comparison with other countries all over the world.</p> <p>Methods</p> <p>We reviewed all the newborns file records (years 2001–2004) in 15 Italian Hospitals.</p> <p>Results</p> <p>We found an overall hypospadias prevalence rate of 3.066 ± 0.99 per 1000 live births (82.48% mild hypospadias, 17.52% moderate-severe). In newborns Small for Gestational Age (birthweight < 10^thpercentile) of any gestational age the prevalence rate of hypospadias was 6.25 per 1000 live births. Performing multivariate logistic regression analysis for different degrees of hypospadias according to severity, being born SGA remained the only risk factor for moderate-severe hypospadias (p = 0.00898) but not for mild forms (p > 0.1).</p> <p>Conclusion</p> <p>In our sample the prevalence of hypospadias results as high as reported in previous European and American studies (3–4 per 1000 live births). Pathogenesis of isolated hypospadias is multifactorial (genetic, endocrine and environmental factors): however, the prevalence rate of hypospadias is higher in infants born small for gestational age than in newborns with normal birth weight.</p