Search Results (18,463)

Background/Objectives: Rubinstein–Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children’s overall QOL. Methods: A cross-sectional study was performed, including a total of 13 caregivers of children diagnosed with RSTS. A self-reported questionnaire [SRQ], medical records and the Pediatric Impact Module PedsQL^TM 2.0, the Pediatric Quality of Life PedsQL^TM 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. Results: The overall QOL score for children with RSTS was x = 52.40; SD 13.01. The highest QOL was in emotional functioning (EF; x = 59.23; SD 18.69), while the lowest QOL was in physical functioning (PF; x = 48.56; SD 16.32) and social functioning (SF; x = 48.85; SD 18.84). There was a statistically significant negative correlation (p < 0.03; r = −2.01) between the age of the child and their QOL, indicating that older children had lower QOL scores. The mean overall rating for the impact of RSTS on family functioning was x = 50.00; SD 10.91. Caregivers reported the highest scores for cognitive functioning (CF; x = 64.23; SD 23.70) and family relationships (FR; x = 60.00; SD 17.17). The lowest scores were for daily activities (DA; x = 41.03; SD 17.17) and worry (W; x = 37.69; SD 18.55). Conclusions: This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning. Full article

Background: A Special Health Care Need (SHCN) is characterized by any type of physical, mental, sensorial, cognitive, emotional, or developmental condition that requires medical treatment, specialized services, or healthcare interventions. These conditions can negatively impact oral health as SHCN children can hardly cooperate or communicate and experience higher levels of dental fear/anxiety, which interfere with regular appointments. The present narrative review aims to analyze the use of audiovisual (AV) tools in dental setting for the management of SHCN children during dental treatment and to evaluate their effectiveness in anxiety/behavior control from the child, dentist, and care-giver perspectives. This analysis leads to the proposal of a new multi-session model for the behavioral management of SHCN pediatric subjects. Methods: An electronic search on the MEDLINE/Pubmed, Scopus, and Web of Science databases was carried out and through this analysis, a new model was proposed, the “UNISA-Virtual Stepwise Distraction model”, a multi-session workflow combining traditional behavior management and the progressive introduction of AV media to familiarize the SHCN child with dental setting and manage behavior. Results: AV tools helped in most cases to manage SHCN behavior and decreased stress in both the dentist and child during dental treatments. Care-givers also welcomed AV distractors, reporting positive feedback in using them during future treatments. Conclusions: The present narrative review found increasing evidence of the use of AV media for SHCN pediatric subjects as distraction tools during dental treatment. In the majority of the studies, AV tools proved to be effective for the management of anxiety, dental fear, and behavior in dental setting. Full article

Ischemic stroke is one of the leading causes of disability and death globally, with a rising incidence in younger age groups. It is well known that maternal diet during pregnancy and lactation is vital for the early neurodevelopment of offspring. One-carbon (1C) metabolism, including folic acid and choline, plays a vital role in closure of the neural tube in utero. However, the impact of maternal dietary deficiencies in 1C on offspring neurological function following ischemic stroke later in life remains undefined. The aim of this study was to investigate inflammation in the blood and brain tissue of offspring from mothers deficient in dietary folic acid or choline. Female mice were maintained on either a control or deficient diet prior to and during pregnancy and lactation. When offspring were 3 months of age, ischemic stroke was induced. One and a half months later, blood and brain tissue were collected. We measured levels of matrix metalloproteases (MMP)-2 and 9 in both plasma and brain tissue, and reported reduced levels of MMP-2 in ChDD male offspring in both tissue types. No changes were observed in MMP-9. This observation supports our working hypothesis that maternal dietary deficiencies in folic acid or choline during early neurodevelopment impact the levels of inflammation in offspring after ischemic stroke. Full article

Background: Breastfeeding is the gold standard in infant nutrition. Successful breastfeeding depends on many factors, including the help of medical personnel in teaching breastfeeding, the need for professional work, and breastfeeding-friendly places in public spaces. The main goal was to identify various barriers among mothers to breastfeeding. Methods: This study used a quantitative descriptive research design. We recruited 419 mothers aged at least 18 years old through social media. Results were analysed using Pearson’s chi-squared and Fisher’s tests of independence for pairs of dependent and independent variables. Results: Most often, women gave birth at the age of 25–30, had one or two children, and attended higher education. Almost half of them lived in a large city and gave birth to a child by caesarean section. A total of 83.1% of mothers planned to breastfeed, but not all of them were able to do so for various reasons. One-third of them felt sorry for themselves that they had to change their feeding method. The majority of mothers did not receive sufficient help in the hospital in terms of learning how to breastfeed (61%), did not use the help of a lactation consultant (67%), and answered that there was no lactation consultant in their place of residence (65%). Only 43.2% of mothers returned to work without ceasing breastfeeding. A total of 42% of mothers experienced feelings of embarrassment when breastfeeding in a public place. The most frequently indicated barrier to breastfeeding in a public place was the lack of a suitable location where a woman would feel comfortable, calm, and intimate. Conclusion: There are various barriers towards breastfeeding: too few lactation consultants, problems with breastfeeding when the mother wants to return to work, and unfriendly places for breastfeeding in public spaces. Efforts must be made to support mothers in breastfeeding. Full article

Introduction: Rapid growth in early childhood has been identified as a possible risk factor for long-term adiposity. However, there is a lack of studies quantifying this phenomenon only in healthy, full-term infants with appropriate birth weight for gestational age. This systematic review and meta-analysis aimed to investigate the association of rapid growth in full-term children up to 2 years of age with adiposity up to 18 years of age. Methodology: A systematic review of the literature was conducted in PubMed, EMBASE, and Web of Science. Results: 14 studies were included. We were unable to find strong evidence that rapid growth in early childhood is a risk factor for long-term adiposity. Rapid growth in early childhood was associated with taller heights (standardized mean difference: 0.51 (CI: 0.25–0.77)) and higher body mass index (standardized mean difference: 0.50 (CI: 0.25–0.76)) and a higher risk of overweight under 18 years. Conclusion: Rapid growth in early childhood in term infants with appropriate birth weight is associated with higher growth, body mass index, and risk of being overweight up to age 18, but further work is needed to identify the associations between early rapid growth and obesity later in adulthood. Full article

A Europe-wide outbreak of invasive pediatric group A streptococcal infections (iGAS) began in fall 2022. Here, we report the evolution of GAS hospitalizations in children and adolescents during the second outbreak year in 2023–2024 at a tertiary center in Switzerland. Using prospective monitoring of all in-patient GAS cases below 16 years of age, including those with iGAS, we compared case frequencies and clinical characteristics in three time periods (2013–2020; 2022–2023; 2023–2024). Annual GAS hospitalizations increased from a median of 25 cases (range 11–28) in 2013–2020 to 89 and 63 cases, respectively, in 2022–2023 and 2023–2024. iGAS cases evolved similarly (2013–2020, 4 cases (3–8); 2022–2023, 32 cases; 2023–2024, 21 cases). The decline in cases from 2022–2023 to 2023–2024 included all types of GAS organ involvement, except suppurative infections in the head area, which remained largely unchanged (48 vs. 45 cases). Pleural empyema declined from 13 to 7 cases, possibly explained by a poor overlap of the GAS and influenza curves, respectively, in 2023–2024 compared to 2022–2023. These data document the prolongation of the GAS outbreak into its second winter season in 2023–2024. Full article

Dyslipidemia is a significant risk factor for atherosclerotic cardiovascular disease (ASCVD). During pregnancy, physiological changes elevate cholesterol and triglyceride levels to support fetal development, which can exacerbate pre-existing conditions and lead to complications such as pre-eclampsia, gestational diabetes, and increased ASCVD risk for both mother and child. Effective management strategies are necessary, especially for pregnant women with inherited forms of dyslipidemia (i.e., familial hypertriglyceridemia, hyperchylomicronemia), where personalized dietary adjustments are crucial for successful pregnancy outcomes. Pharmacological interventions and lipoprotein apheresis may be necessary for severe cases, though their use is often limited by factors such as cost, availability, and potential fetal risks. Despite the promise of advanced therapies, their widespread application remains constrained by limited studies and high costs. Thus, a personalized, multidisciplinary approach is essential for optimizing outcomes. This review provides a comprehensive overview of current strategies and evidence-based practices for managing dyslipidemia during pregnancy, emphasizing the balance of maternal and fetal health. Additionally, it discusses the physiological changes in lipid metabolism during pregnancy and their implications, particularly for women with inherited forms of dyslipidemia. Full article

Background: Wiedemann–Steiner syndrome (WSS), a rare autosomal-dominant disorder caused by haploinsufficiency of the KMT2A gene product, is part of a group of disorders called chromatinopathies. Chromatinopathies are neurodevelopmental disorders caused by mutations affecting the proteins responsible for chromatin remodeling and transcriptional regulation. The resulting gene expression dysregulation mediates the onset of a series of clinical features such as developmental delay, intellectual disability, facial dysmorphism, and behavioral disorders. Aim of the Study: The aim of this study was to investigate a 10-year-old girl who presented with clinical features suggestive of WSS. Methods: Clinical and genetic investigations were performed. Whole exome sequencing (WES) was used for genetic testing, performed using Illumina technology. The bidirectional capillary Sanger resequencing technique was used in accordance with standard methodology to validate a mutation discovered by WES in all family members who were available. Utilizing computational protein modeling for structural and functional studies as well as in silico pathogenicity prediction models, the effect of the mutation was examined. Results: WES identified a de novo heterozygous missense variant in the KMT2A gene KMT2A(NM_001197104.2): c.3451C>G, p.(Arg1151Gly), absent in the gnomAD database. The variant was classified as Likely Pathogenetic (LP) according to the ACMG criteria and was predicted to affect the CXXC-type zinc finger domain functionality of the protein. Modeling of the resulting protein structure suggested that this variant changes the protein flexibility due to a variation in the Gibbs free energy and in the vibrational entropy energy difference between the wild-type and mutated domain, resulting in an alteration of the DNA binding affinity. Conclusions: A novel and de novo mutation discovered by the NGS approach, enhancing the mutation spectrum in the KMT2A gene, was characterized and associated with WSS. This novel KMT2A gene variant is suggested to modify the CXXC-type zinc finger domain functionality by affecting protein flexibility and DNA binding. Full article

(1) Background: Overweight children usually have lower levels of physical activity (PA) than their normal-weight peers. Low PA predisposes to an increase in body fat mass. The aim of this study was to evaluate the effectiveness of school-based PA intervention on the anthropometric indicators and body composition of overweight and obese children during a two-year observation period, from the age of 10 to 12. (2) Materials and methods: The research included 148 children with overweight or obesity who were born in 2007. There were two groups of children with standard and elevated PA at school (SPA and EPA; 4 and 10 h of physical education lessons a week, respectively). Anthropometric and body composition measurements were carried out. Body mass index (BMI), fat mass (FM), fat-free mass (FFM), skeletal muscle mass (SMM), and total body water (TBW) were estimated. In total, five measurements were conducted at intervals of 5–6 months. (3) Results: In EPA group, the percentage of obese children decreased from 46% to 35.25%, and in SPA group, this percentage increased from 42.75% to 46%. Only 3.33% of children in the standard PA group (one child) and 17.2% in the elevated PA group (six children) changed their BMI and FM categories from overweight to normal body mass. In EPA children, FM decreased from 28.65% to 26.41%, and in SPA children, it increased from 30.31% to 31.75%. The highest increase in FFM was in EPA boys, while SPA boys recorded the highest decrease. In SPA children, SMM increased by 0.43% from 38.85% to 39.28%, and in EPA children, it increased by 2.51% from 40.27% to 42.78%. In EPA children, TBW slightly increased from 53.26% to 53.59%, and in SPA children, it decreased from 50.70% to 49.93%. (4) Conclusions: Elevated PA at school has a positive effect on the BMI and body composition of children who are overweight or obese. Increasing the mandatory number of physical education lessons in school curricula is an efficient strategy for reducing obesity in school-aged children. Full article

A resurgence of Mycoplasma pneumoniae (MP)—the leading cause of community-acquired bacterial pneumonia, particularly in children—occurred following the COVID-19 pandemic. We aimed to investigate the clinical manifestations, macrolide resistance patterns, and therapeutic approaches related to the MP pneumonia epidemic. Children and adolescents diagnosed with MP pneumonia in September–December 2023 were screened. Clinical data were retrospectively collected from 13 major hospitals using concordant microbiological criteria, including either a positive PCR result or four-fold increase in serological markers. Demographic characteristics, treatment modalities, and clinical outcomes were analyzed. Of the 474 screened patients, 374 (median age: 7.7 [IQR, 5.4–9.6] years; hospitalization rate: 88.6%) met the microbiological confirmation criteria. Most patients experienced fever (98.9%), and lobular/lobar consolidation (59.1%) was the dominant radiological finding. The macrolide resistance rate remained high at 87.0%; corticosteroids were widely used (55.6%) alongside macrolides, despite resistance. Patients with consolidation had prolonged fever (median 8 vs. 7 days, p = 0.020) and higher hospitalization rates (92.3% vs. 83.0%, p = 0.008). Macrolide resistance did not significantly influence radiological outcomes. This study highlights the ongoing challenge of macrolide resistance in MP pneumonia and need for tailored therapeutic approaches. Despite high resistance, macrolides remain commonly prescribed, often concurrently with corticosteroids. Full article

This article delves into the intricate relationship between oral health, quality of life, and behavioral characteristics in individuals with autism spectrum disorder (ASD). Background/Objectives: Autism has been associated with various challenges, and this study seeks to elucidate the impact of ASD on oral health outcomes and overall well-being. The research focuses on assessing overall oral health by evaluating various parameters, such as the condition of lips, tongue, gums and tissues, natural teeth, dentures, oral hygiene, and dental pain in individuals with ASD. Additionally, the study explores the influence of age, sex, and certain variables, like basic daily living skills on oral health practices, aiming to identify potential correlations between these factors and oral health outcomes. Methods: We employed standardized instruments to quantitatively measure and analyze the impact of oral health status on the overall quality of life experienced by individuals with ASD. Results: The study found a statistically significant positive association between oral health, measured by the Oral Health Assessment Tool (OHAT), and quality of life, as indicated by EuroQol 5-Dimensions Youth version (EQ-5D-Y) total scores (β = 0.13045, p = 0.00271). This suggests that better oral health is linked to higher quality of life. When adjusting for age and sex in a multiple linear regression model, the association remained significant but with a slightly reduced effect size (β = 0.10536, p = 0.0167). Age also showed a marginally significant positive association with quality-of-life scores. ANOVA results indicated that participants with advanced oral health status reported significantly higher quality-of-life scores than those with poorer oral health (p = 0.00246). The study also found that intelligence quotient (IQ) does not substantially influence dental health status, while the “Autonomy” subscale of the EQ-5D-Y is positively related to the OHAT. Conclusions: Unhealthy oral conditions significantly impact the overall quality of life in individuals with ASD. Therefore, it is crucial to include regular dental assessments and treatments in therapeutic protocols for patients with ASD. Full article

Despite the growing awareness of healing hospitals, they are still far from being globally widespread, and traditional hospital building models are increasingly unable to address the serious resource constraints and environmental stresses that we face today. In addition, sustainable development concepts have become key driving forces in the construction process of healing buildings. Currently, while research on healing hospital design continues to grow, there is relatively little that specifically addresses the integration of sustainable development concepts. Hence, this paper aims to explore the current state of development and knowledge structure of sustainable healing and therapeutic design (HTD) in hospital scenarios using a systematic methodology that integrates macro-quantitative bibliometric analysis and follow-up micro-qualitative content analysis methods based on data from the Web of Science (WOS) database, which investigates eight research objectives, including the background, current state, hotspots, high-frequency words, integration with sustainable development goals (SDGs), particularly SDG3, “Ensure healthy lifestyles and promote well-being of people of all ages”, and the challenges posed by public health emergencies, such as the COVID-19 era, for sustainable HTD in hospitals. This paper identified six main clusters: the environment of a hospital, mental health, quality of life, illness and care, COVID-19, and wound healing. These clusters were taken from keyword network visualization analysis, emphasizing key terms focused on wound healing, mental health, quality of life, nursing, children, and evidence-based design via high-frequency keyword analysis. These have been further grouped into three categories: strategy, approach, and method. Subsequently, this paper further explores how hospital HTD relates to SDG 3 targeted on reducing child mortality (SDG 3.2), promoting mental health and physical health (SDG 3.4), and achieving universal health coverage (SDG 3.8) to explore wound healing, mental health, quality of life, nursing, and children, which are stressed in the results of both macro-quantitative bibliometric and follow-up micro-qualitative content analyses. In addition, it is shown that more changes should be made to sustainable hospital HTD in the context of the pandemic era to cope with unpredictable crises. Finally, the expression HTD is discussed to justify the keywords. The results of this study complement sustainable hospital HTD and provide assistance to future architects, policy makers, and healthcare professionals. Full article

Background/Objectives: Most studies have linked mandatory homeschooling during COVID-19 to mental health harm in parents and children, while a minority have found non-significant or beneficial effects. Past studies have not measured mandatory homeschooling continuously over an extended period; consequently, they could not capture compounding mental health effects, which may explain conflicting results. We asked whether children’s cumulative time spent homeschooled during COVID-19 school closure mandates caused compounding harm for parent and child mental health, and whether parent employment, child internet access and educational support from schools (live and pre-recorded online classes, home learning packs) impacted this relationship. We aimed to identify the families at greatest risk of mental health harm during mandatory homeschooling and the educational support that may have mitigated this risk. Methods: Couples completed retrospective, cross-sectional survey questionnaires assessing parent depression, anxiety and stress, child internalizing and externalizing symptoms, and the family’s homeschooling experience. Data were analyzed using mediation analysis total effects, ordinary least squares regression and simple slopes analysis. Results: Both parents and children experienced compounding mental health harm during mandatory homeschooling. Live online classes protected parents and children, while home learning packs protected children. Unexpectedly, reliable internet access and the employment of both parents placed children at greater risk. Conclusions: Findings suggest that long-term mandatory homeschooling during COVID-19 placed families at greater risk of mental health harm. To protect family mental health during homeschooling mandates, schools should provide children with evidence-based educational support. Full article

Based on toxicological evidence, children’s exposure to phthalates may contribute to altered neurodevelopment and abnormal regulation of brain-derived neurotrophic factor (BDNF). We analyzed data from five aligned studies of the Human Biomonitoring for Europe (HBM4EU) project. Ten phthalate metabolites and protein BDNF levels were measured in the urine samples of 1148 children aged 6–12 years from Italy (NACII-IT cohort), Slovakia (PCB-SK cohort), Hungary (InAirQ-HU cohort) and Norway (NEBII-NO). Serum BDNF was also available in 124 Slovenian children (CRP-SLO cohort). Children’s total, externalizing and internalizing behavioral problems were assessed using the Child Behavior Checklist at 7 years of age (only available in the NACII-IT cohort). Adjusted linear and negative binomial regression models were fitted, together with weighted quantile sum (WQS) regression models to assess phthalate mixture associations. Results showed that, in boys but not girls of the NACII-IT cohort, each natural-log-unit increase in mono-n-butyl phthalate (MnBP) and Mono(2-ethyl-5-oxohexyl) phthalate (MEOHP) was cross-sectionally associated with higher externalizing problems [incidence rate ratio (IRR): 1.20; 95% CI: 1.02, 1.42 and 1.26; 95% CI: 1.03, 1.55, respectively]. A suggestive mixture association with externalizing problems was also observed per each tertile mixture increase in the whole population (WQS—IRR = 1.15; 95% CI: 0.97, 1.36) and boys (IRR = 1.20; 95% CI: 0.96, 1.49). In NACII-IT, PCB-SK, InAirQ-HU and NEBII-NO cohorts together, urinary phthalate metabolites were strongly associated with higher urinary BDNF levels, with WQS regression confirming a mixture association in the whole population (percent change (PC) = 25.9%; 95% CI: 17.6, 34.7), in girls (PC = 18.6%; 95% CI: 7.92, 30.5) and mainly among boys (PC = 36.0%; 95% CI: 24.3, 48.9). Among CRP-SLO boys, each natural-log-unit increase in ∑DINCH concentration was associated with lower serum BDNF levels (PC: −8.8%; 95% CI: −16.7, −0.3). In the NACII-IT cohort, each natural-log-unit increase in urinary BDNF levels predicted worse internalizing scores among all children (IRR: 1.15; 95% CI: 1.00, 1.32). Results suggest that (1) children’s exposure to di-n-butyl phthalate (DnBP) and di(2-ethylhexyl) phthalate (DEHP) metabolites is associated with more externalizing problems in boys, (2) higher exposure to DINCH may associate with lower systemic BDNF levels in boys, (3) higher phthalate exposure is associated with higher urinary BDNF concentrations (although caution is needed since the possibility of a “urine concentration bias” that could also explain these associations in noncausal terms was identified) and (4) higher urinary BDNF concentrations may predict internalizing problems. Given this is the first study to examine the relationship between phthalate metabolite exposure and BDNF biomarkers, future studies are needed to validate the observed associations. Full article

Background: Iodine deficiency is a well-established cause of goiter, while the impact of lifestyle factors on goiter development remains underexplored. The study aims to explore the associations between iodine status, lifestyle factors, and the prevalence of goiter among children and adolescents in Zhejiang Province, China. Methods: A cross-sectional survey was conducted in 2022 using a stratified multistage sampling, involving 2261 children aged 6–17. Among these 1562 participants underwent both urinalysis and thyroid ultrasound. Lifestyle factors were assessed through self-reported questionnaires. Results: The prevalence of goiter in the study population was 10.8%. A high urinary iodine concentration (UIC) (>300 μg/L) was significantly associated with a decreased risk of goiter (OR = 0.49, 95%CI: 0.27–0.88). Excessive recreational screen time and a high frequency of dining out were associated with an increased Tvol, while adequate physical activity and sleep were inversely associated with goiter risk, while the combined effect of high UIC and healthy lifestyle showed a protective effect against goiter. Conclusion: Ensuring adequate iodine status and promoting healthy lifestyles are crucial for preventing goiter and enhancing thyroid health in children and adolescents, suggesting that public health strategies should integrate nutritional and lifestyle interventions. Full article