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Genetics in Medicine : Official Journal... Jun 2024Germline testing in pediatric cancer presents opportunities and challenges. Understanding family perspectives, experiences, and preferences will optimize integration... (Review)
Review
PURPOSE
Germline testing in pediatric cancer presents opportunities and challenges. Understanding family perspectives, experiences, and preferences will optimize integration into routine care.
METHODS
Following PRISMA guidelines, we searched four databases for studies exploring perspectives, experiences, and preferences of parents/caregivers and/or patients regarding germline testing of children with cancer. Qualitative and quantitative data was extracted, organized, and summarized by research question and themes.
RESULTS
We identified 2286 unique articles, of which 24 were included. Interest in and uptake of testing was high. Families were motivated by altruism and a desire for inheritance/causation information. Testing barriers included psychological concerns, timing of the testing approach if offered at diagnosis or in a high-risk cancer setting and privacy/discrimination. Testing experiences highlighted challenges yet also positive impacts, with results providing psychological relief and informing proactive decision-making. Timing preferences varied, however allowing time to adjust to a new diagnosis was a common theme. Most wanted to receive as many germline sequencing-related results as possible.
CONCLUSION
Findings underscore the importance of integrating germline analyses into pediatric cancer care with flexibility and support for families facing challenges. Where possible, consent should be provided at a time that suits each family's situation with access to information aligning with their needs and preferences.
PROSPERO
CRD42023444890.
PubMed: 38943478
DOI: 10.1016/j.gim.2024.101197 -
Journal of Neuromuscular Diseases Jun 2024Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most...
BACKGROUND
Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most severe forms. Demonstrating the long-term efficacy of disease-modifying therapies (DMTs) necessitates an understanding of SMA natural history.
OBJECTIVE
This study summarizes published natural history data on respiratory, swallowing, feeding, and speech functions in patients with SMA not receiving DMTs.
METHODS
Electronic databases (Embase, MEDLINE, and Evidence-Based Medicine Reviews) were searched from database inception to June 27, 2022, for studies reporting data on respiratory and/or bulbar function outcomes in Types 1-3 SMA. Data were extracted into a predefined template and a descriptive summary of these data was provided.
RESULTS
Ninety-one publications were included: 43 reported data on respiratory, swallowing, feeding, and/or speech function outcomes. Data highlighted early loss of respiratory function for patients with Type 1 SMA, with ventilatory support typically required by 12 months of age. Patients with Type 2 or 3 SMA were at risk of losing respiratory function over time, with ventilatory support initiated between the first and fifth decades of life. Swallowing and feeding difficulties, including choking, chewing problems, and aspiration, were reported in patients across the SMA spectrum. Swallowing and feeding difficulties, and a need for non-oral nutritional support, were reported before 1 year of age in Type 1 SMA, and before 10 years of age in Type 2 SMA. Limited data relating to other bulbar functions were collated.
CONCLUSIONS
Natural history data demonstrate that untreated patients with SMA experience respiratory and bulbar function deterioration, with a more rapid decline associated with greater disease severity. This study provides a comprehensive repository of natural history data on bulbar function in SMA, and it highlights that consistent assessment of outcomes in this area is necessary to benefit understanding and approval of new treatments.
PubMed: 38943396
DOI: 10.3233/JND-230248 -
International Breastfeeding Journal Jun 2024Despite global public health organizations endorsing breastfeeding or human milk (HM) as the optimal source of nutrition for infants, detailed knowledge of how HM...
BACKGROUND
Despite global public health organizations endorsing breastfeeding or human milk (HM) as the optimal source of nutrition for infants, detailed knowledge of how HM composition influences infant growth is lacking. In this commentary we summarize and interpret the key findings of a large systematic review on HM components and child growth (N = 141 articles included). We highlight the most consistent associations, discuss study quality issues, explore socio-economic and time trends in this body of research, and identify gaps and future research directions.
KEY FINDINGS OF SYSTEMATIC REVIEW
We grouped HM components into three categories: micronutrients (28 articles), macronutrients (57 articles), and bioactives (75 articles). Overall, we struggled to find consistent associations between HM components and infant growth. The majority of studies (85%) were of moderate or low-quality, with inconsistent HM collection and analysis strategies being identified as the most substantial quality concerns. Additional quality issues included failing to account for potential confounding by factors such as breastfeeding exclusivity and maternal body mass index.
CONSIDERATIONS FOR FUTURE HUMAN MILK RESEARCH
Many opportunities exist for the future of HM research. Using untargeted metabolomics will expand our understanding of HM components beyond previously defined and well-understood components. Machine learning will allow researchers to investigate HM as an integrated system, rather than a collection of individual components. Future research on HM composition should incorporate evidence-based HM sampling strategies to encompass circadian variation as well as infant consumption. Additionally, researchers need to focus on developing high quality growth data using consistent growth metrics and definitions. Building multidisciplinary research teams will help to ensure that outcomes are meaningful and clinically relevant.
CONCLUSION
Despite a large body of literature, there is limited quality evidence on the relationship between HM composition and infant growth. Future research should engage in more accurate collection of breastfeeding data, use standardized HM collection strategies and employ assays that are validated for HM. By systematically evaluating the existing literature and identifying gaps in existing research methods and practice, we hope to inspire standardized methods and reporting guidelines to support robust strategies for examining relationships between HM composition and child growth.
Topics: Humans; Milk, Human; Infant; Breast Feeding; Infant, Newborn; Infant Nutritional Physiological Phenomena; Anthropometry; Female; Child Development
PubMed: 38943170
DOI: 10.1186/s13006-024-00652-x -
BMC Oral Health Jun 2024There are more than one million children and adolescents living with type 1 diabetes mellitus, and their number is steadily increasing. Diabetes affects oral health... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
There are more than one million children and adolescents living with type 1 diabetes mellitus, and their number is steadily increasing. Diabetes affects oral health through numerous channels, including hyposalivation, immune suppression, and the inflammatory effect of glycation end-products. However, patients with type 1 diabetes must follow a strict sugar free diet that is proven to be carioprotective. Therefore, the aim of this systematic review and meta-analysis is to investigate whether children with type 1 diabetes have a difference in Decayed, Missing, Filled Teeth index (DMFT), salivary function, and periodontal status than children without diabetes, with an emphasis on glycemic control.
MATERIALS AND METHODS
PubMed, Embase and Cochrane libraries were screened for articles, using predefined search keys without any language or date restrictions. Two independent authors performed the selection procedure, extracted data from the eligible articles, carried out a manual search of the reference lists, and assessed the risk of bias using the Newcastle-Ottawa scale. Meta-analysis was performed in R using the random-effects model. Effect sizes were mean differences; subgroup analysis was performed on glycemic control.
RESULTS
33 studies satisfied the eligibility criteria. 22 studies did not show a significant difference regarding the DMFT index between the diabetes and non-diabetes groups; six studies found that children living with diabetes had higher DMFT scores, compared to five studies that found significantly lower scores. Meta-analysis found no statistically significant differences in plaque, gingival, and calculus indexes, however it found significant differences in pooled DMFT indexes, and salivary flow rate. Subgroup analysis on glycemic control using DMFT values found significant differences in children with good and poor glycemic control with results of 0.26 (CI95%=-0.50; 1.03) and 1.46 (CI95%=0.57; 2.35), respectively.
CONCLUSIONS
Children with poor glycemic control face higher risk of developing caries compared to good control and non-diabetes children. Regular dental check-ups and strict control of glycemic levels are highly advised for children living with type 1 diabetes, further emphasizing the importance of cooperation between dentists and diabetologists.
Topics: Child; Humans; Diabetes Mellitus, Type 1; DMF Index; Glycemic Control; Oral Health
PubMed: 38943074
DOI: 10.1186/s12903-024-04516-y -
Boletin Medico Del Hospital Infantil de... 2024Chronic kidney disease (CKD) has severe consequences on the quality and expectancy of life and is considered a major health problem worldwide. This is, especially... (Review)
Review
Chronic kidney disease (CKD) has severe consequences on the quality and expectancy of life and is considered a major health problem worldwide. This is, especially relevant in pediatric patients, as they have unique characteristics and a mortality rate 30 times higher (in advanced stages) than healthy people. This review aims to define the minimum components for the diagnostic approach and monitoring of CKD in the pediatric population from primary health care to promote comprehensive care and adequate risk management. For this purpose, we performed a systematic review of the literature with a panel of experts. Based on the evidence, to optimize the definition, diagnosis, and timely treatment of CKD in the pediatric population, we formulated 21 recommendations. These were approved by the research team and peer-reviewed by clinical experts. They will facilitate the definition of the diagnostic approach for CKD in the pediatric population in primary health-care settings, allowing for timely treatment intervention, comprehensive care, and monitoring of this disease.
Topics: Humans; Renal Insufficiency, Chronic; Child; Primary Health Care; Comprehensive Health Care
PubMed: 38941646
DOI: 10.24875/BMHIM.23000174 -
Cancer Nursing Jun 2024Interventions to foster resilience may promote mental health recovery after exposure to stressors. However, comprehensive systematic syntheses of such evidence in family...
BACKGROUND
Interventions to foster resilience may promote mental health recovery after exposure to stressors. However, comprehensive systematic syntheses of such evidence in family members of pediatric cancer patients are lacking.
OBJECTIVE
To systematically review and meta-analyze the evidence for the effects of psychological interventions at fostering resilience in family members of pediatric cancer patients.
METHODS
PubMed, Cumulative Index to Nursing and Allied Health Literature, and 9 other databases were searched for articles published until March 2023. Empirical studies on psychological interventions to improve resilience in family members of pediatric cancer patients were included. Full-text and quality appraisals were performed independently by 2 reviewers. Pooled effect sizes were calculated using random-effects meta-analyses.
RESULTS
Seventeen studies were included, of which 10 were included in the meta-analyses. There was a positive effect of interventions on resilience at postintervention time points, but no effects on depressive symptoms, stress, or well-being. The improvement in resilience was sustained in the short term (≤3 months) and medium term (>3 to ≤6 months), with delayed effects on depressive symptoms and stress. In the 6 studies that reported moderate effect sizes, the interventions comprised problem-solving skills, cognitive strategies, promotion of personal strength, and social resources.
CONCLUSION
The findings indicated that psychological interventions targeting resilience have the potential to positively affect the resilience and mental health outcomes of family members, particularly parents.
IMPLICATIONS FOR PRACTICE
Psychological interventions targeting resilience hold promise in improving the mental health of family members. Future interventions should clearly specify the characteristics of the intervention, such as mode of delivery, format, and duration.
PubMed: 38941110
DOI: 10.1097/NCC.0000000000001368 -
Journal of Autism and Developmental... Jun 2024Racial differences in prevalence rates of autism spectrum disorder (ASD) have shifted in the United States (US) since the 1990s. This review addresses the nature and...
PURPOSE
Racial differences in prevalence rates of autism spectrum disorder (ASD) have shifted in the United States (US) since the 1990s. This review addresses the nature and context of this shift and discusses potential contributing factors and areas for future research.
METHODS
Seventeen population-based epidemiological birth cohort studies on ASD prevalence in the US that included race as a variable are included in the review. Studies were identified via a keyword search on PubMed. To be included, studies were required to include race or ethnicity as a variable in the prevalence estimates, include at least 1000 cases with autism, and be published in English by June 3rd, 2023.
RESULTS
Results suggest that in nearly all birth cohorts prior to 2010, ASD prevalence rates were highest among White children. ASD prevalence rates among Black, Hispanic, and Asian/Pacific Islander (API) children (22.3, 22.5, and 22.2 per 1000, respectively) surpassed prevalence rates among White children (21.2 per 1000) in the 2010 birth cohort and continued to increase in the 2012 birth cohorts.
CONCLUSIONS
There are persistent racial differences in ASD prevalence in the US, and these differences were inverted after 2010, when ASD prevalence among Black, Hispanic, & API children surpassed ASD prevalence among White children. Possible drivers of this racial repatterning of ASD prevalence include changes in ASD screening and diagnosis, changes to health insurance policy, changes to immigration policy, and increased education attainment by minority groups.
PubMed: 38941049
DOI: 10.1007/s10803-024-06403-5 -
Alternative Therapies in Health and... Jun 2024Congenital anal atresia poses a significant challenge in pediatric surgery, necessitating precise and effective interventions to ensure optimal outcomes. While...
BACKGROUND
Congenital anal atresia poses a significant challenge in pediatric surgery, necessitating precise and effective interventions to ensure optimal outcomes. While traditional anterior sagittal approach anoplasty has been a standard procedure, emerging evidence suggests potential benefits of anal dimple anorectoplasty.
OBJECTIVE
This study aims to assess the clinical efficacy of anal dimple anorectoplasty in treating congenital anal atresia.
METHODS
We conducted a rigorous systematic review and meta-analysis, extensively searching various databases such as Wanfang, CNKI, VIP, PubMed, Web of Science, and the Cochrane Library. Our aim was to identify randomized controlled trials comparing the efficacy of traditional anterior sagittal approach anoplasty with anal dimple anorectoplasty in treating congenital anal atresia. Search terms included "anal dimple anorectoplasty," "congenital anal atresia," and "RCT." Data regarding operation time, postoperative hospitalization duration, and complication rates were collected.
RESULTS
Anal dimple anorectoplasty exhibited significantly greater clinical efficacy (odds ratio [OR]=4.91, 95% confidence interval [CI]: 2.02-11.94, P < .00001), along with markedly reduced postoperative hospitalization duration (95% CI: -1.27 to -0.57, P < .00001), and a substantially lower incidence of complications (OR=0.1, 95% CI: 0.04-0.25, P < .00001) compared to traditional anterior sagittal approach anoplasty. These findings underscore the clear advantage of anal dimple anorectoplasty over conventional methods, indicating its potential as a preferred surgical approach for congenital anal atresia.
CONCLUSIONS
Anal dimple anorectoplasty emerges as a highly effective intervention for pediatric patients with congenital anal atresia, demonstrating a notable decrease in postoperative complications. These findings highlight its potential as a preferred surgical approach to enhance patient outcomes and minimize adverse events.
PubMed: 38940776
DOI: No ID Found -
Journal of the Korean Association of... Jun 2024Dentoalveolar (DA) trauma, which can involve tooth, alveolar bone, and surrounding soft tissues, is a significant dentofacial emergency. In emergency settings,...
Dentoalveolar (DA) trauma, which can involve tooth, alveolar bone, and surrounding soft tissues, is a significant dentofacial emergency. In emergency settings, physicians might lack comprehensive knowledge of timely procedures, causing delays for specialist referral. This systematic review assesses the literature on isolated DA fractures, emphasizing intervention timing and splinting techniques and duration in both children and adults. This systematic review adhered to PRISMA guidelines and involved a thorough search across PubMed, Google Scholar, Semantic Scholar, and the Cochrane Library from January 1980 to December 2022. Inclusion and exclusion criteria guided study selection, with data extraction and analysis centered on demographics, etiology, injury site, diagnostics, treatment timelines, and outcomes in pediatric (2-12 years) and adult (>12 years) populations. This review analyzed 26 studies, categorized by age into pediatrics (2-12 years) and adults (>12 years). Falls were a common etiology, primarily affecting the anterior maxilla. Immediate management involved replantation, repositioning, and splinting within 24 hours (pediatric) or 48 hours (adult). Composite resin-bonded splints were common. Endodontic treatment was done within a timeframe of 3 days to 12 weeks for children and 2-12 weeks for adults. Tailored management based on patient age, tooth development stage, time elapsed, and resource availability is essential.
PubMed: 38940648
DOI: 10.5125/jkaoms.2024.50.3.123 -
Pain Management Jun 2024This systematic review and meta-analysis assessed the benefits of an automatic lancing device compared with a manual lancet or a hypodermic needle in neonates. We... (Review)
Review
This systematic review and meta-analysis assessed the benefits of an automatic lancing device compared with a manual lancet or a hypodermic needle in neonates. We followed the Cochrane Handbook methodology, used the RoB-2 tool for risk of bias assessment, RevMan 4.1 for meta-analysis and GRADE framework for certainty assessment. We searched the databases and gray literature on 15 November 2023. Six eligible studies enrolling 539 neonates were included. An automatic lancing device reduced pain scores during and after heel prick, sampling time and the need for repeat puncture. The certainty of evidence was very low to moderate. An automatic lancing device is preferred for heel pricks in neonates, given less pain and higher efficiency. CRD42023483189.
PubMed: 38940479
DOI: 10.1080/17581869.2024.2368451