Who influences parents\u2019 decision on life support treatments for children with spinal muscular atrophy type 1?

Background: We aimed at assessing the influence of those who are part of the parents\u2019 social network (family, friends and health professionals) when they are making decisions about nutritional and respiratory support treatments for their SMA 1 children. Methods: We prepared a 46-question questionnaire to explore the factors that influence parents\u2019 decisions. The influence of the different persons, the degree of satisfaction with the treatment elected and the consistency between the treatment information and the child\u2019s status were assessed by the parents using a Likert scaleof ten (a higher score for a higher influence). Results: The secondary-care physicians have the main influence on parent\u2019s decisions about nutritional support (mean=6.4) and about respiratory support (mean=5.8). This influence is higher among decisions about Percutaneous Endoscopic Gastrostomy (mean=8.0) and among decisions about Tracheostomy Ventilation (mean=8.0). The degree of satisfaction with the chosen treatment is high (mean=7.9), and consistency between information about treatment and development of the illness also has a high score (mean=8.3). The hospital ethics committee was involved in 13.3% of the cases. Conclusions: The secondary-care physician influences parents\u2019 decisions about nutritional and respiratory support, particularly while choosing PEG and TV. The degree of satisfaction is very high regardless of the treatment chosen. The hospital ethics committee is not usually involved in the treatment decisions for SMA1 children

High prevalence of nickel allergy in an overweight female population: a pilot observational analysis.

In our Allergy Unit, we incidentally observed that a low Nickel diet, prescribed for delayed allergy to Nickel sulfate, reduced body mass index (BMI) and waist circumference in overweight patients.This pilot cross-sectional analysis was undertaken to compare the prevalence of Nickel allergy of overweight individuals versus the general population. We also had the chance to report the efficacy of a low Nickel diet on BMI and waist circumference in Nickel-sensitive overweight subjects.Eighty-seven overweight subjects, with a BMI > 26 Kg/m2, were consecutively enrolled in a health prevention program, and screened for the presence of Nickel allergy. The enrolled population was mostly females (72/87) (82.8%). Forty-three overweight women and two men showed a Nickel allergy and started a low Nickel diet. After 6-months of dieting, 24 overweight allergic women could be traced and changes in BMI and waist circumference were calculated.Prevalence of Nickel allergy in overweight.Prevalence of Nickel allergy in overweight female was 59.7%, compared with a prevalence rate of 12.5% in the general population. A significant reduction in BMI was observed in 24 out of 43 overweight females with Nickel allergy after 24 weeks of a low Nickel diet. Relative to baseline, mean BMI decrease was 4.2 ± 0.5 (P < 0.001) and the mean decline in waist circumference was 11.7 ± 0.6 cm (P < 0.001).This pilot observational analysis showed a substantially higher prevalence of Nickel allergy among overweight females, especially those with metabolic syndrome and fatty liver disease. A normocaloric low Nickel diet was effective in reducing BMI in this population. Further research is strongly needed to confirm these preliminary findings

Alexithymia in parents and adolescents with generalised anxiety disorder

Background: The relationship between generalised anxiety disorder (GAD) and alexithymia has been poorly studied in adolescents. The present study examined the alexithymia levels in adolescents with GAD and their parents compared with healthy control participants (adolescents and their parents). Method: The sample included 300 participants: 50 adolescents with GAD and 50 healthy adolescents, 13–18 years of age, and their 200 parents (100 mothers and 100 fathers). The Schedule for Affective Disorders and Schizophrenia for School-Age Children was performed to evaluate adolescents’ mental health while the 20-item Toronto Alexithymia Scale was performed to assess alexithymia levels in both adolescents and their parents. Results: Adolescents with GAD showed a significantly higher rate of alexithymia when compared with control adolescents. The mothers of adolescents with GAD showed an alexithymia score higher than did the controls’ mothers. The fathers of the two groups showed no differences of in their rate of alexithymia. Moreover, in the clinical sample, adolescent and maternal alexithymia scores were not correlated, while significant directed correlations were found between these adolescents and their own fathers. Conclusions: Our findings show an association between GAD and alexithymia in adolescents. A significant presence of alexithymic traits in the mothers of the patients with GAD was shown. An intergenerational transmission of alexithymia could be supposed but this cannot be a linear mechanism. The assessment of alexithymia in adolescents with psychological disorders, and in their parents, could be useful to plan a more targeted therapeutic approach

Demographic characteristics of enrolled subjects at baseline.

<p>Demographic characteristics of enrolled subjects at baseline.</p

Anthropometric measurements and laboratory values of enrolled subjects.

<p><b>*Median</b></p><p><b>°Interquartile Interval</b></p><p>Anthropometric measurements and laboratory values of enrolled subjects.</p

Prevalence of Nickel Allergy in overweight subjects (BMI≥26 kg/m²) compared to the general population [9]-[11].

<p>Prevalence of Nickel Allergy in overweight subjects (BMI≥26 kg/m²) compared to the general population [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0123265#pone.0123265.ref009" target="_blank">9</a>]-[<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0123265#pone.0123265.ref011" target="_blank">11</a>].</p

MBL2 gene polymorphisms increase the risk of adverse neurological outcome in preterm infants: a preliminary prospective study.

BACKGROUND: As described in animal models, the lectin-complement pathway is central to the propagation of ischemia-reperfusion injuries in many tissues, including the brain. Similarly, it might affect the genesis of brain damage in preterm infants. MBL2 gene single-nucleotide polymorphisms (SNPs), regulating mannose-binding lectin (MBL) serum levels, could predict the risk of adverse neurological outcome in these infants. METHODS: To evaluate the association between SNPs of the MBL2 gene and long-term neurological outcomes in preterm infants, 75 infants (gestational age (GA) ≤ 32 wk) were observed in a prospective longitudinal study and assessed by clinical and instrumental exams at 12 and 24 mo of corrected age (CA). They were genotyped for the promoter polymorphism -221 and for the exon-1 variant alleles (at codons 52, 54, and 57) of the MBL2 gene. RESULTS: The MBL2 exon-1 OO genotype was more frequent in children with an adverse neurological outcome (5/35; 7%) than in controls (0/40; 0%), P = 0.045. The risk of intraventricular hemorrhage in carriers of the genotype OO was marked, without reaching statistical significance (odds ratio: 8.67; 95% confidence interval: 0.87-86.06; P = 0.07). CONCLUSION: Preterm infants who are carriers of MBL2 exon-1 OO genotype are exposed to an increased risk of adverse neurological outcomes

Celiac disease and overweight in children: An update

The clinical presentation of celiac disease in children is very variable and differs with age. The prevalence of atypical presentations of celiac disease has increased over the past 2 decades. Several studies in adults and children with celiac disease indicate that obesity/overweight at disease onset is not unusual. In addition, there is a trend towards the development of overweight/obesity in celiac patients who strictly comply with a gluten-free diet. However, the pathogenesis and clinical implications of the coexistence of classic malabsorption (e.g., celiac disease) and overweight/obesity remain unclear. This review investigated the causes and main clinical factors associated with overweight/obesity at the diagnosis of celiac disease and clarified whether gluten withdrawal affects the current trends of the nutritional status of celiac disease patients. © 2014 by the authors; licensee MDPI, Basel, Switzerland

PedsQLTM 4.0 Generic Core Infant Scales Parents Report for Infants (ages13-24 months). Linguistic validation from original US English version to italian version

The purspose of this research was to show the translation and linguistic validation of the PedsQLTM 4.0 Generic Core Infant Scales Parents Report for Infants (ages 13-24 months) from its original English version to Italian language. Methods: The linguistic validation consists in three steps: a) different forward translations from the original US English instrument to Italian; this step includes the drawing of a \u201creconciliation\u201d version (version 1); b) backward translations from the Italian reconciliation version to US English; c) patient testing: the second version of the questionnaire (obtained after the backward translations) has to be tested on a panel of a minimmum of 5 respondents, throughout cognitive interviewing methodology, in order to obtain the final italian version of the PedsQLTM Parents Report for Infants (ages 13-24 months). In this report we summarize the third step of this process. To study the content validity, the applicability and comprehension of our questionnarie traslation, we tested it through a qualitative methodology in a sample of parents whose children were hospitalized in Bambino Ges\uf9 Children\u2019s Hospital with two different kinds of interview: 4 parents responded to the questions posed through a \u201cthinkaloud interview\u201d and 3 parents responded to the questionnaire and to a \u201crespondent debriefing\u201d interview. Results and conclusion: We modified the main question of each section and also one of the possible answer in order to maintain the Italian traslation that appeared in others PedsQLTM. We did not modify the questions of each section because respondents expressed that are clearly comprehensible and easy to understand