Hasil untuk "Pediatrics"

Min Jae Kang, Min Jae Kang, Roopa Kanakatti Shankar et al.

PurposeSkeletal abnormalities are common in Turner Syndrome (TS), yet data on objective radiographic markers are limited. We aimed to establish normative reference ranges for phalangeal length ratios and assess their utility in detecting skeletal abnormalities in TS.MethodsWe analyzed 4,082 female bone age X-rays (<18 years) from the Radiological Society of North America (RSNA) database after quality screening and outlier exclusion as a reference cohort. Phalangeal length ratios—4th to 3rd metacarpal (4:3 MC), 5th to 3rd metacarpal (5:3 MC), and 5th to 3rd middle phalanx (5:3 MP)—were measured and compared in 81 TS patients seen at a single center. Additional skeletal features such as SHOX deficiency-related signs and brachydactyly type A3 (BDA3) were assessed.ResultsIn reference subjects, 4:3 MC and 5:3 MC ratios remained stable across most age groups, while the 5:3 MP ratio increased with age. TS patients showed a significantly lower 4:3 MC and 5:3 MP ratios (P < 0.001, P = 0.002, respectively) compared to ones from reference subjects. A low 4:3 MC ratio (<–2 SD) was seen in 27.2% of TS patients. The 4:3 MC ratio correlated with height percentile (r = 0.27, P = 0.02). BDA3 was more prevalent in TS compared to reference subjects (13.6% vs. 2.1%, P < 0.001) and associated with low MC ratios.ConclusionNormative reference ranges for phalangeal length ratios were established and differences in 4:3 and 5:3 MP ratios in patients with TS were identified compared to the reference group. Further studies with larger TS cohorts are needed to confirm the clinical utility of these radiographic biomarkers.

Pâmela Gracielle da Fonseca, António Raposo, Nada Alqarawi et al.

BackgroundFeeding difficulties, such as limited appetite, selective eating, and food phobia, affect caregivers' ability to provide adequate nutrition to children. These issues impact 25%–40% of non-neurodivergent children and up 80% of neurodivergent children.AimThis review examines how family involvement influences the improvement, worsening, or maintenance of feeding difficulties in neurodivergent and non-neurodivergent preschool and school-age children.MethodsAn integrative review was conducted using Embase, PubMed, Scopus, Cochrane Library, Lilacs and grey literature (Google Scholar and Connect Papers). The review focused on randomized clinical trials (RCTs) involving parents or caregivers of children aged 2–10 years, assessing lifestyle or psychological interventions.ResultsFrom 1,257 studies, 885 primary articles were screened. Of the 100 most recent articles on grey literature, 2 met the eligibility criteria after full-text assessment and were therefore included in the review. Thirty-six studies were reviewed in full, leading to 11 RCTs with 630 children aged 1 to 14. Interventions included behavioral education, sensory education, and cooking classes. Findings indicated increased vegetable acceptance in two studies, improved feeding difficulties scores in five, and reduced avoidant/restrictive food intake disorder (ARFID) symptoms in two studies. One study showed no significant differences between control and intervention groups.ConclusionFamily-involved interventions generally produced positive outcomes in managing feeding difficulties. However, methodological variability and the predominance of studies from high-income countries limit the generalizability of these results. Future research should focus on standardizing diagnostic criteria and developing culturally sensitive interventions.

Giorgio Sodero, Federica Arzilli, Elena Malavolta et al.

Background: Among the potential indications for growth hormone (GH) therapy is the presence of mutations in the SHOX (short stature homeobox-containing) gene, located in the telomeric pseudotautosomal region (PAR1) on the short arm of both sex chromosomes. Despite general recommendations supporting GH therapy in these cases, there is a lack of comprehensive evidence specifically evaluating its efficacy and safety in this subgroup of pediatric patients. Aim: The objective of this scoping review was to evaluate the efficacy and safety of growth hormone therapy in patients with SHOX gene variants, providing a narrative synthesis of the included studies. Materials and Methods: This scoping review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) extension for scoping reviews. We summarized information extracted from 22 articles identified by our search strategy. Currently, only one randomized clinical trial has analyzed the efficacy profile of GH in patients with SHOX mutations. Results: Growth hormone is a valuable therapeutic aid for these patients. However, its prescription in children with SHOX gene mutations should consider the specific characteristics of each patient, similar to the approach taken for patients with idiopathic growth hormone deficiency (GHD). Conclusion: Growth hormone therapy in patients with SHOX gene alterations appears to be both safe and effective. However, longitudinal prospective studies and targeted clinical trials are necessary to confirm these findings. Despite this, GH remains one of the preferred hormonal therapies for patients with short stature and confirmed SHOX gene mutations.

Clement N. Mweya, Simeon P. Mwanyonga, Liness A. Ndelwa et al.

ABSTRACT Background and Aims Dengue fever epidemics pose an increasing public health threat in Tanzania. Climate change and industrialization may influence outbreaks, while community knowledge plays a vital role in prevention. This study examined public knowledge about environmental and anthropogenic impacts on dengue transmission. Methods A cross‐sectional study was conducted from April to June 2022 with 482 participants from Bahi, Kyela, and Ngorongoro districts. A validated questionnaire assessed demographic characteristics and knowledge about dengue epidemiology related to climate and industrialization. Multinomial logistic regression and χ2 tests examined associations between variables. Results Over half of the participants (52.9%) were male, and most were aged 26–35 (33.2%). Only 21% demonstrated a good understanding of industrialization's health impacts, while 19% knew the climate change linkage with dengue. Significant knowledge gaps exist regarding climate change and industrialization impacts linked to recurrent epidemics (44.2% poor knowledge). Age over 35 (AOR 1.73, 95% CI 1.39–2.14), primary education or less (AOR 0.77, 95% CI 0.59–0.99), and unemployment (AOR 0.31, 95% CI 0.23–0.42) were associated with poor knowledge. Gender and occupation significantly predicted climate change knowledge (p < 0.001). Conclusion Communities in dengue‐endemic areas have limited knowledge about climate and anthropogenic drivers of recurring epidemics. Targeted educational interventions can improve understanding and preventative behavior among high‐risk demographics.

Margaret McConnell, Alya Alsager, Plyce Fuchu et al.

Abstract Background Preterm birth is a leading cause of childhood mortality and developmental disabilities, with persistent socioeconomic disparities in incidence and outcomes. Maternal presence during prolonged neonatal intensive care unit (NICU) hospitalization is critical for preterm infant health, enabling mothers to provide breast milk, directly breastfeed, and engage in skin-to-skin care—all of which promote infant physiological stability and neurodevelopment. Low-income mothers face significant barriers to visiting the NICU and participating in caregiving due to financial burdens and the psychological impact of financial stress. This randomized controlled trial aims to evaluate the effectiveness of financial transfers in promoting maternal caregiving behaviors that directly impact preterm infant health outcomes during NICU hospitalization. Methods We will conduct a two-arm, single-blinded randomized controlled trial with 420 Medicaid-eligible mothers of infants born between 24 weeks 0 days to 34 weeks 1 day gestation across four Level 3 NICUs in Georgia and Massachusetts. Mothers in the intervention arm will receive standard of care enhanced with weekly financial transfers and will be informed that these funds are intended to help them spend more time with their infants in the NICU. All participants will be provided with a hospital-grade breast pump and educational materials on the benefits of breast milk and skin-to-skin care. Participants will complete surveys during their infant’s hospitalization and following discharge, capturing outcomes related to maternal mental and physical health, caregiving behaviors, cognitive function, financial and socioeconomic factors, infant health and growth, and perceptions of NICU care quality. Primary outcomes are the provision of breast milk and engagement in skin-to-skin care. Secondary outcomes include infant growth and health outcomes, NICU visitation, financial and socioeconomic hardship, maternal physical and mental health measures, cognitive function, and perception of NICU care quality. Discussion This study will provide evidence of the impact of financial transfers on maternal caregiving behaviors in the NICU, addressing critical gaps in our understanding of how financial stress affects low-income mothers. Findings may inform health policy, particularly regarding Medicaid coverage of non-medical services, and contribute to understanding how to address disparities in preterm infant care. Trial registration The trial was prospectively registered with the American Economic Association Trial Registry, the primary registry for academic economists conducting policy trials, on 16 April 2024 (AEARCTR-0013256). It was also registered on ClinicalTrials.gov (NCT06362798) on 10 April 2024.

M. Halstead, K. Walter

Bruna Scalia, Marco Andrea Nicola Saporito, Laura Mauceri et al.

Abstract Background SARS-CoV-2’s potential consequences on the developing brain are still unknown. The aim of this study was to describe cranial ultrasonographic (cUS) findings in a population of newborns exposed to SARS-CoV-2 born at San Marco Hospital in Catania. Methods Two cohort of newborns, one exposed to SARS-CoV-2 both during gestation and at birth and one unexposed, were enrolled in this cross-sectional study conducted according to the STROBE guidelines (Strenghtening the Reporting of Observational Studies in Epidemiology) and underwent cUS. We performed a statistical analysis using the Fisher’s exact test to assess whether significant differences among the two groups existed. Results we enrolled 139 exposed newborns (62 females, 77 males with median gestational age 38.4 ± 1.9 W and median weight at birth 3142.8 ± 594.4 g) and 139 unexposed newborns (60 females, 79 males with median gestational age 38,9 ± 1.3 W and median weight at birth 3230 ± 336 g). cUS abnormalities were found in 32 exposed patients (23%) and in 23 (16.5%) unexposed patients. A statistically significant difference was found in the incidence of minor intracranial abnormalities (p 0.036) between exposed and unexposed patients and between newborns exposed during pregnancy and unexposed patients (p 0.016). Conclusions in our experience, the incidence of minor intracranial abnormalities was higher in SARS-COV-2-exposed newborns. Our results must be taken with caution and need further confirmation in larger studies but suggest to consider performing cUS at birth in newborns exposed to SARS-CoV-2 in research contexts.

Lalan Prasad Rauniyar, Maya Rouniyar, Rashmi Jha et al.

Background: Globally, the burden of malnutrition, especially undernutrition, as well as the consequences of malnutrition is of the rise which is especially of significant concern for underdeveloped countries. Countries like Nepal are also facing a similar problem of malnutrition. In Madhesh province, among the under 5 children the incidence of chronic malnutrition is 29.3%. Our aim is to assess the malnourishment in the children of Madhesh province in Nepal. Methods: This cross-sectional quantitative study was carried out among 409 malnourished children who were admitted from July 17, 2018 to July 16, 2022 at NRH in Gajendra Narayan Singh Hospital. Collected data were fed into Microsoft-excel and analyzed using SPSS software, version-2016. As data were normally distributed, frequency, percentage, mean and standard deviation were calculated for descriptive analysis. To find out the association of categorical variables, the Chi-square test or Fisher’s Exact test was used where appropriate. P-value <0.05 was significant. Results: Out of 409 malnourished cases, 145 cases were SAM (SD<-3) and 264 cases were MAM (-2 to -3SD) at the time of admission. The mean increment in the weight was 1.14±0.44  kg.  The average length of stay was 19.82±8.73 days. There is a significant difference (p<0.001) in the length of stay among the SAM and MAM cases of our study and a difference in the increment of weight in comparison to mean weight gain (1.14±0.44  kg) with respect to the length of stay of the malnourished child who stayed for more than 28 days and less. Conclusions: There is significant weight gain in malnourished children after management at the Nutritional Rehabilitation Center. Keywords: Height; increment in weight; malnourished child; moderate acute malnutrition; nutritional rehabilitation home

Huili Xue, Qun Guo, Aili Yu et al.

Abstract Chromosomal abnormalities are the most common etiology of early spontaneous miscarriage. However, traditional karyotyping of chorionic villus samples (CVSs) is limited by cell culture and its low resolution. The objective of our study was to investigate the efficiency of molecular karyotyping technology for genetic diagnosis of early missed abortion tissues. Chromosome analysis of 1191 abortion CVSs in early pregnancy was conducted from August 2016 to June 2021; 463 cases were conducted via copy-number variations sequencing (CNV-seq)/quantitative fluorescent-polymerase chain reaction (QF-PCR) and 728 cases were conducted using SNP array. Clinically significant CNVs of CVSs were identified to clarify the cause of miscarriage and to guide the couples’ subsequent pregnancies. Among these, 31 cases with significant maternal cell contamination were removed from the study. Among the remaining 1160 samples, 751 cases (64.7%) with genetic abnormalities were identified, of which, 531 (45.8%) were single aneuploidies, 31 (2.7%) were multiple aneuploidies, 50 (4.3%) were polyploidies, 54 (4.7%) were partial aneuploidies, 77 (6.6%) had submicroscopic CNVs (including 25 with clinically significant CNVs and 52 had variants of uncertain significance), and 8 cases (0.7%) were uniparental disomies. Our study suggests that both SNP array and CNV-seq/QF-PCR are reliable, robust, and high-resolution technologies for genetic diagnosis of miscarriage.

Eva Steinke, Eva Steinke, Eva Steinke et al.

BackgroundLung disease as major cause for morbidity in patients with cystic fibrosis (CF) starts early in life. Its large phenotypic heterogeneity is partially explained by the genotype but other contributing factors are not well delineated. The close relationship between mucus, inflammation and infection, drives morpho-functional alterations already early in pediatric CF disease, The TRACK-CF cohort has been established to gain insight to disease onset and progression, assessed by lung function testing and imaging to capture morpho-functional changes and to associate these with risk and protective factors, which contribute to the variation of the CF lung disease progression.Methods and designTRACK-CF is a prospective, longitudinal, observational cohort study following patients with CF from newborn screening or clinical diagnosis throughout childhood. The study protocol includes monthly telephone interviews, quarterly visits with microbiological sampling and multiple-breath washout and as well as a yearly chest magnetic resonance imaging. A parallel biobank has been set up to enable the translation from the deeply phenotyped cohort to the validation of relevant biomarkers. The main goal is to determine influencing factors by the combined analysis of clinical information and biomaterials. Primary endpoints are the lung clearance index by multiple breath washout and semi-quantitative magnetic resonance imaging scores. The frequency of pulmonary exacerbations, infection with pro-inflammatory pathogens and anthropometric data are defined as secondary endpoints.DiscussionThis extensive cohort includes children after diagnosis with comprehensive monitoring throughout childhood. The unique composition and the use of validated, sensitive methods with the attached biobank bears the potential to decisively advance the understanding of early CF lung disease.Ethics and trial registrationThe study protocol was approved by the Ethics Committees of the University of Heidelberg (approval S-211/2011) and each participating site and is registered at clinicaltrials.gov (NCT02270476).

Claudia S. Priglinger, Günter Rudolph, Irene Schmid et al.

Abstract Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and SOPH syndrome with its cardinal symptoms of short stature, optic atrophy, and Pelger–Huët anomaly. We aimed to present clinical and genetic characteristics of two sisters (20 and 15 years old) who were diagnosed with optic atrophy and cone dystrophy in childhood. Genome sequencing revealed two novel variants in NBAS in compound heterozygous state in both sisters, namely a 1‐bp deletion predicted to result in a premature termination codon (c.5104del; p.(Met1702*)), and a non‐canonical splice site variant of unclear significance (c.886‐5T>A; p.?). Results Clinical examination and history revealed cone dystrophy, optic atrophy, and Pelger–Huët anomaly, but no short stature, recurrent acute liver failure, or susceptibility to infections. RNA analysis revealed that the c.886‐5T>A variant results in two aberrant transcripts that are predicted to lead to in frame amino acid changes in the β‐propeller region of the protein. Conclusion We hypothesize that the phenotype of our subjects, which appears to be at the end of the spectrum of NBAS‐related disorders, could be explained by residual protein function mediated by the non‐canonical splice site variant c.886‐5T>A. Our study contributes to the existing knowledge on the genotypic and phenotypic spectrum of NBAS‐related disorders.

Behrman, Kilegman, Jenson

A. Eidelman

Alexandre Perez, Elles van derLouw, Janak Nathan et al.

Abstract Background Diffuse intrinsic pontine glioma (DIPG) is one of the most devastating diseases among children with cancer, thus novel strategies are urgently needed. Aims We retrospectively evaluated DIPG patients exposed to the carbohydrate restricted ketogenic diet (KD) with regard of feasibility, safety, and overall survival (OS). Methods and results Searches of MEDLINE and Embase identified five hits meeting the search criteria (diagnosis of DIPG and exposure to KD). One additional case was identified by contact with experts. Individual patient data were extracted from publications or obtained from investigators. The inclusion criteria for analysis of the data were defined as DIPG patients who were exposed to the KD for ≥3 months. Feasibility, as described in the literature, was the number of patients able to follow the KD for 3 months out of all DIPG patients identified. OS was estimated by the Kaplan‐Meier method. Five DIPG patients (males, n = 3; median age 4.4 years; range, 2.5‐15 years) meeting the inclusion criteria were identified. Analysis of the available data suggested that the KD is generally relatively well tolerated. Only mild gastro‐intestinal complaints, one borderline hypoglycemia (2.4 mmol/L) and one hyperketosis (max 7.2 mmol/L) were observed. Five out of six DIPG patients identified adhered for ≥3 months (median KD duration, 6.5 months; range, 0.25‐2 years) to the diet. The median OS was 18.7 months. Conclusion Our study provides evidence that it may be feasible for pediatric DIPG patients to adhere for at least 3 months to KD. In particular cases, diet modifications were done. The clinical outcome and OS appear not to be impacted in a negative way. KD might be proposed as adjuvant therapy when large prospective studies have shown feasibility and safety. Future studies might ideally assess the impact of KD on clinical outcome, quality of life, and efficacy.

Pooja Santapuram, Amanda L. Stone, Rachel Lane Walden et al.

The preoperative experience can cause significant anxiety for both pediatric patients and their parents in the lead up to a surgical procedure. Pediatric anxiety in a preoperative setting has been shown to have significant negative downstream effects on the clinical outcomes of children and the healthcare system as a whole. Studies have found that preoperative parental anxiety has significant negative effects on children, regarding anxiety and emotional response. Therefore, interventions for parental preoperative anxiety are important to reduce the child’s anxiety. This review provides a brief overview of a broad range of strategies used to alleviate parental anxiety in a preoperative setting. Preoperative education, play-based interventions, music therapy, the presence of parents at induction of anesthesia, and integrative preoperative preparation programs have all demonstrated some evidence for reducing parental preoperative anxiety. The ultimate goal of using interventions for parental preoperative anxiety is to equip healthcare systems to better support families and optimize the perioperative outcomes of children.

Coreen Johnson, J. Versalovic

R. Keren, X. Luan, R. Localio et al.

D. Irwin, Heather E. Gross, B. Stucky et al.

BackgroundPediatric self-report should be considered the standard for measuring patient reported outcomes (PRO) among children. However, circumstances exist when the child is too young, cognitively impaired, or too ill to complete a PRO instrument and a proxy-report is needed. This paper describes the development process including the proxy cognitive interviews and large-field-test survey methods and sample characteristics employed to produce item parameters for the Patient Reported Outcomes Measurement Information System (PROMIS) pediatric proxy-report item banks.MethodsThe PROMIS pediatric self-report items were converted into proxy-report items before undergoing cognitive interviews. These items covered six domains (physical function, emotional distress, social peer relationships, fatigue, pain interference, and asthma impact). Caregivers (n = 25) of children ages of 5 and 17 years provided qualitative feedback on proxy-report items to assess any major issues with these items. From May 2008 to March 2009, the large-scale survey enrolled children ages 8-17 years to complete the self-report version and caregivers to complete the proxy-report version of the survey (n = 1548 dyads). Caregivers of children ages 5 to 7 years completed the proxy report survey (n = 432). In addition, caregivers completed other proxy instruments, PedsQL™ 4.0 Generic Core Scales Parent Proxy-Report version, PedsQL™ Asthma Module Parent Proxy-Report version, and KIDSCREEN Parent-Proxy-52.ResultsItem content was well understood by proxies and did not require item revisions but some proxies clearly noted that determining an answer on behalf of their child was difficult for some items. Dyads and caregivers of children ages 5-17 years old were enrolled in the large-scale testing. The majority were female (85%), married (70%), Caucasian (64%) and had at least a high school education (94%). Approximately 50% had children with a chronic health condition, primarily asthma, which was diagnosed or treated within 6 months prior to theinterview. The PROMIS proxy sample scored similar or better on the other proxy instruments compared to normative samples.ConclusionsThe initial calibration data was provided by a diverse set of caregivers of children with a variety of common chronic illnesses and racial/ethnic backgrounds. The PROMIS pediatric proxy-report item banks include physical function (mobility n = 23; upper extremity n = 29), emotional distress (anxiety n = 15; depressive symptoms n = 14; anger n = 5), social peer relationships (n = 15), fatigue (n = 34), pain interference (n = 13), and asthma impact (n = 17).