Search results for "Pediatric"

Pertussis vaccines--1993.

1993

A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes

2016

The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with the previously reported c.1028G>A (p.Arg343Gln) mutation in exon 8 of TP63. The mother lacked ectrodactyly, indicating a diagnosis of RHS, whereas the girl presented with all three major features (ectrodactyly, ectodermal dysplasia, clefting) and different minor features (including small and brittle nails, and recurrent conjunctivitis believed to be because of stenotic and blo…

Do children with overweight respond faster to food-related words?

2020

Abstract Overweight in childhood is a risk factor in developing obesity as an adult, thus having severe consequences on the individuals’ physical health and psychological well-being. Therefore, studying the cognitive and emotional processes that sustain overweight is essential not only at a theoretical level but also to develop effective interventions. In the present experiment, we examined whether children with overweight respond faster to food-related than non-food-related words in a word recognition task: lexical decision. The participants were 24 children diagnosed with exogenous overweight and 24 children with a healthy weight. The stimulus list included positively valenced food-relate…

Vitamin D Status in Pregnancy and Determinants in a Southern European Cohort Study

2016

Background Population-based data on vitamin D status in pregnancy in southern European countries are scarce. We assessed the prevalence and determinants of vitamin D insufficiency and deficiency in pregnancy in Spain. Methods Plasma 25-hydroxyvitamin D3 (25(OH)D3) concentration was measured at the first trimester of gestation in 2,036 pregnant women from several geographical areas of Spain (latitude 39–42°N). Uni- and multivariable regression models were conducted to identify predictors of circulating 25(OH)D3 concentration and vitamin D insufficiency (20–30 ng/mL) and deficiency (<20 ng/mL). Results Thirty-one per cent and 18% of women were vitamin D insufficient and deficient, respectivel…

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study

2018

Study question Has PGD-HLA been successful relative to diagnostic and clinical efficacy? Summary answer The diagnostic efficacy of PGD-HLA protocols was found lower in this study in comparison to published PGD-HLA protocols and to that reported for general PGD by ESHRE (78.5 vs 94.1% and vs 92.6%, respectively), while the clinical efficacy has proven very difficult to assess due to inadequate follow-up of both the ART/PGD and HSCT procedure outcomes. What is known already The first clinical cases for PGD-HLA were reported in 2001. It is now a well-established procedure, with an increasing number of cycles performed every year. However, PGD-HLA is still offered by relatively few PGD centres,…

Outcomes for adults with anorexia nervosa who do not respond early to outpatient treatment

2021

Objective: To better understand those patients with anorexia nervosa who do not show early response to treatment and are likely to have poorer outcome. Method: From an existing data set of 187 patients with anorexia nervosa across 22 eating disorder outpatient services in the United Kingdom, participants who had started treatment and had at least one body mass index (BMI) observation in the first 6 weeks of treatment were eligible for these secondary analyses (N = 65), a latent class analysis of BMI change over the first 6 weeks of treatment. Fifty-six patients showed no early change in BMI. We used logistic regression to examine predictors of good outcome in the 40 participants who had 12-…

Different types of intestinal atresia in identical twins

2008

The authors present a previously unreported association of different types of intestinal atresia in identical low-birth-weight twins. Both babies were affected by duodenal atresia, associated in the first case with a complete mucosal duodenal membrane and in the second one with an "apple-peel" jejunal atresia. These occurrences may suggest that they were either the consequence of linkage of 2 genes or a pleiotropic expression of a single gene responsible for such rare conditions.

Comparison of the antibacterial effect of uroepithelial cells from healthy donors and children with asymptomatic bacteriuria

1985

Bacterial attachment to uroepithelial cells (UEC) and the effect of UEC on bacterial growth was investigated in 15 healthy persons and 12 patients suffering from asymptomatic bacteriuria (ABU) with recurrent urinary tract infections (UTI). Desquamated UEC and mannose-resistant Escherichia coli were co-cultivated for up to 90 min. While no difference in bacterial adherence was observed between healthy controls and patients, 33.4% of the bacteria attached to normal UEC were found to be dead under microscopic evaluation (acridine orange staining), whereas no killing effect could be observed in patients' UEC 5 min after the onset of incubation. This phenomenon was confirmed by investigating the…

Syncope in pediatric patients: role of arrhythmias

2009

Adolescents’ and young adults’ transition experiences when transferring from paediatric to adult care: A qualitative metasynthesis

2014

Author's version of an article in the journal: International Journal of Nursing Studies. Also available from the publisher at: http://dx.doi.org/10.1016/j.ijnurstu.2013.02.001 Objectives: The objective of this study was to synthesize qualitative studies of how adolescents and young adults with chronic diseases experience the transition from paediatric to adult hospital care. Design: The review is designed as a qualitative metasynthesis and is following Sandelowski and Barroso's guidelines for synthesizing qualitative research. Data sources: Literature searches were conducted in the databases PubMed, Ovid, Scopus, Cumulative Index to Nursing and Allied Health Literature (CINAHL), ISI Web of …