BMC Pediatrics最新文献

{"title":"Identification of risk factors for necrotizing enterocolitis in twins: a case-control matching analysis of over ten-years' experience.","authors":"Pengjian Zou, Wenhai Fang, Lili Wu, Juan He, Huimin Xia, Wei Zhong, Qiuming He","doi":"10.1186/s12887-024-05188-x","DOIUrl":"https://doi.org/10.1186/s12887-024-05188-x","url":null,"abstract":"<p><strong>Objective: </strong>The identification of risk factors is crucial for the clinical prevention and diagnosis of necrotizing enterocolitis (NEC). Monochorionic twins (MCT), due to the high genetic homogeneity, provided a valuable model for investigating the risk factors of various diseases. This study aimed to explore the risk factors for NEC using MCT.</p><p><strong>Methods: </strong>A retrospective review was conducted on the medical records of monochorionic twins (MCT) treated at Guangzhou Women and Children's Medical Center from January 2012 to March 2023. We compared perinatal condition, feeding and preceding condition between MCT pairs with NEC (NEC MCT) and without NEC(No NEC MCT).Logistic regression analysis was utilized to identify independent risk factors.</p><p><strong>Result: </strong>In 85 pairs of monochorionic twins (MCT), NEC occurred in one twin in 78.8% of cases, whereas both twins were affected in 21.2% of cases. In the final cohort of 60 pairs of MCT, several parameters were found to differ significantly between NEC MCT group and No NEC MCT group. Compared to No NEC MCT group, the incidence of umbilical cord abnormalities was significantly higher in the NEC MCT group (25% vs. 8.3%, P = 0.014). Meanwhile, NEC MCT group showed higher prevalence of SGA infants (48.3% vs. 21.7%, P = 0.002) and sFGR (38.3% vs. 6.7%, P = 0.000). Furthermore, TTTs (13.3% vs. 3.3%, P = 0.027) and septicemia (25% vs. 5%, P = 0.002) were more common in NEC MCT group. In a multivariable logistic regression model, sFGR (OR 6.81,95%CI 2.1-21.9, p = 0.001) was eventually output as an independent risk factor.</p><p><strong>Conclusion: </strong>Non-genetic factors play a predominant role in the pathogenesis of NEC. Umbilical cord abnormalities, SGA, sFGR, TTTs and septicemia significantly increase the risk of NEC. sFGR is an independent risk factor of NEC.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The diagnostic value of peripheral blood lymphocyte testing in children with infectious mononucleosis.","authors":"Jingxin Zhou, Jia Zhang, Dan Zhu, Wentong Ma, Qing Zhong, Qin Shen, Jing Su","doi":"10.1186/s12887-024-05228-6","DOIUrl":"https://doi.org/10.1186/s12887-024-05228-6","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the diagnostic value of peripheral blood lymphocyte testing in children with infectious mononucleosis (IM).</p><p><strong>Methods: </strong>A total of 135 children with IM as the IM group and 100 healthy volunteers as the healthy group were included in this retrospective study. Peripheral blood lymphocyte subsets marked as CD3+, CD4+, CD8+, CD16 + CD56+, and CD19 + in the peripheral blood were quantified using flow cytometry. Statistical analysis was performed using the chi-square test, Kruskal-Wallis test, AUROC curve, and Kappa consistency test to assess the diagnostic value of these markers in IM.</p><p><strong>Results: </strong>The AUROC curve for CD8 + cells and for CD4+/CD8 + ratios both achieved a value of 1 with the sensitivity and specificity of 100% (P<0.001). The Kappa coefficients were 1 for CD8+, CD4+/CD8 + ratios and the combined EBV analysis, indicating a 100% consistency with the clinical diagnosis. Significant differences were also observed in the CD3+, CD4+, CD16 + CD56+, and CD19 + lymphocyte subsets between the IM group and the healthy group (P<0.05).</p><p><strong>Conclusion: </strong>The evaluation of CD8 + and CD4+/CD8 + ratios in peripheral blood lymphocytes represents a significant advancement in the diagnosis of IM. Peripheral blood lymphocyte testing offers a reliable, sensitive, and specific diagnostic tool to enhance the clinical management of children with IM.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient-centered medical homes and vision care for children: a cross-sectional analysis with data from the national survey of children's health 2018-2019.","authors":"Afua O Asare, Brian C Stagg, Carole Stipelman, Olivia J Killeen, Patrice M Hicks, Olaoluwa Omotowa, E Eugenie Hartmann, Heather T Keenan, J D Smith","doi":"10.1186/s12887-024-05226-8","DOIUrl":"https://doi.org/10.1186/s12887-024-05226-8","url":null,"abstract":"<p><strong>Background: </strong>Vision screening as part of well-child visits is recommended annually for US children 3 to 6 years. However, 63% of children do not get a vision screening in well-child visits. The Patient-Centered Medical Home (PCMH) improves the receipt of preventive care visits in other medical specialties but it is unknown if it improves receipt of vision screening. The objective of this study is to determine whether caregiver-reported receipt of care in a PCMH is associated with receiving a vision screening test in a well-child visit for children 3 to 6 years in a pediatrician/general doctor's office ('primary care').</p><p><strong>Method: </strong>Population-based data for US children aged 3 to 6 years was derived from the National Survey of Children's Health (2018-2019). Children were excluded if they did not have a well-child visit in the previous 12 months. The primary exposure was receipt of care in a PCMH ('PCMH care'), and the primary outcome was receipt of a vision screening in primary care. Adjusted odds ratios (aOR) and predicted probabilities were computed for children with and without PCMH care.</p><p><strong>Results: </strong>Among 9,587 children with well-child visits, 4,984 (50.9%) were males. There were 1,107 (23.3%) Hispanic, 6704 (52.8%) White/Non-Hispanic and 545 (11.8%) Black/Non-Hispanic children. There were 5,482 (51.8%) children who received PCMH care. Of those with PCMH care, 2,629 (52.2%) received a vision screening in primary care. Those with PCMH care (52.2%) had a higher odds of receiving a vision screening (aOR, 1.31; 95% CI 1.11, 1.55) in primary care compared to children without PCMH care (42.8%). The predicted probability of vision screening in primary care was 50.8% (95% CI 48.2, 53.5) for children that received PCMH care, and 44.3% (95% CI 41.3, 47.3) without PCMH care.</p><p><strong>Conclusions: </strong>Caregiver-reported receipt of PCMH care was associated with a greater likelihood of vision screening for children 3 to 6 years in a well-child visit. Further studies are needed to understand the mechanisms through which PCMH care contributes to the greater odds of vision screening in primary care to inform the creation of strategic interventions to prevent vision loss and its long-term implications.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of traumatic duodenal rupture in children-case series.","authors":"Zhen Cheng, Yuelan Zheng, Jiahui Gao, Zhouguang Wu, Qi Feng, Bin Wang","doi":"10.1186/s12887-024-05217-9","DOIUrl":"https://doi.org/10.1186/s12887-024-05217-9","url":null,"abstract":"<p><strong>Background: </strong>Traumatic duodenal rupture is rare which accounts for only 2-10% of all Blunt abdominal trauma. The purpose of this study was to investigate the experience of diagnosis and treatment of traumatic duodenal rupture in children.</p><p><strong>Methods: </strong>This was a retrospective case series study. Clinical data were collected from three children suffering from a traumatic duodenal rupture who received surgical treatment in our hospital from January 2013 to January 2023. Demographic characteristics, trauma mechanism, physical examination, auxiliary examination, operation timing and plan, postoperative management and follow-up of included patients were described. Summarize the importance of early diagnosis and treatment of this type of injury.</p><p><strong>Results: </strong>Three children (1 male and 2 females) with duodenal rupture due to traumatic abdominal injury were included in the study, with average age of 8.2 years (range 2.75-13.25 years). Among them, One child was injured by heavy objects. The other two children had lumbar fracture and seat belt sign. All three patients underwent emergency operation within 24 h, and recovered well after surgery. No related complications seen during follow-up.</p><p><strong>Conclusions: </strong>Duodenal rupture is a rare but fatal disease. Early identification and active abdominal exploration can reduce the incidence of related complications and mortality in children with blunt abdominal injury, especially those with seat belt sign. Simultaneously, the standardized postoperative management is significant for the cure of children.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Different antithrombotic strategies to prevent cardiovascular complications in Kawasaki patients: a systematic review and meta-analysis.","authors":"Ramin Assempoor, Alireza Sattari Abroy, Alireza Azarboo, Amirhossein Ghaseminejad-Raeini, Kimia Najafi, Kaveh Hosseini","doi":"10.1186/s12887-024-05202-2","DOIUrl":"https://doi.org/10.1186/s12887-024-05202-2","url":null,"abstract":"<p><strong>Background: </strong>Coronary artery aneurysm (CAA) poses significant cardiovascular risks, particularly in Kawasaki disease (KD) patients. This systematic review and meta-analysis aim to evaluate and compare antithrombotic strategies in preventing CAA formation secondary to Kawasaki disease and the ensuing CAA cardiovascular complications.</p><p><strong>Methods: </strong>Following PRISMA guidelines, we systematically searched major databases, namely PubMed, Scopus, Web of Science, and Embase. Major adverse cardiovascular events (MACE), myocardial infarction (MI), stenosis, bleeding, occlusion, and coronary artery lesion (CAL) formation were primary outcomes. Consolidated Standards of Reporting Trials (CONSORT) and Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) scores assessed study quality. A meta-analysis, as well as sensitivity analysis and meta-regression, was performed to compare the efficacy of pharmacological strategies on the outcomes.</p><p><strong>Results: </strong>The study included 21 studies with 1045 patients for CAA complications and 41536 patients for CAA formation prevention. In children with CAA secondary to Kawasaki disease, the addition of warfarin to aspirin was associated with a significantly lower odds of myocardial infarction (OR = 0.26, 95% CI: 0.11-0.60, I² = 25%) and mortality (OR = 0.18, 95% CI: 0.04-0.88, I² = 0%) compared to aspirin alone. However, there was no significant difference in MACE (OR = 0.38, 95% CI: 0.08-1.93, I² = 60%) and occlusion (OR = 0.17, 95% CI: 0.02-1.92, I² = 58%). Sensitivity analysis showed reduced thrombosis (OR = 0.29, 95% CI: 0.14-0.62, I² = 0%), MACE (OR [95% CI] = 0.22[0.06-0.84], I² = 46%), and occlusion (OR [95% CI] = 0.08[0.02-0.44], I² = 36%). Meta-regression did not yield significant results.</p><p><strong>Conclusions: </strong>As for the acute phase of KD, no benefit was conferred from adding high-dose aspirin to the routine IVIG alone regimen. However, the complexity of outcomes and the diversity in antithrombotic interventions underscore the need for tailored approaches and further research.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors and discrimination model for screen exposure among children under 3 years: findings from Fujian province in China.","authors":"Chong Guo, Jingmin Guo, Zhi Qu, Juan Gao, Fei Zhou, Chunmei Chen, Pin Ge, Guihua Liu","doi":"10.1186/s12887-024-05221-z","DOIUrl":"https://doi.org/10.1186/s12887-024-05221-z","url":null,"abstract":"<p><strong>Background: </strong>Compliance with screen time guidelines among children worldwide remains low, and there is insufficient evidence on the current prevalence in China. This study aimed to investigate the prevalence of compliance with screen time guidelines among children under 3 years old in Fujian Province, East China, identify risk factors and their independent effects, and develop a risk discrimination model for targeted interventions.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted among low-income families recruited from welfare programs at 96 sites in both urban and rural areas of Fujian Province, China. Face-to-face interviews gathered sociodemographic data, lifestyle information, attitudes towards screen exposure, and details on screen media device ownership. A multivariable logistic regression model was employed to identify independent risk factors for compliance with screen time guidelines, while the area under the receiver operating characteristic curve (AUC) was used to evaluate the model's discrimination ability.</p><p><strong>Results: </strong>A total of 4,707 children participated in the survey. The rates of compliance with screen time guidelines were 56.8% for children under 1 year old, 18.8% for those between 1 and 2 years old, and 81.9% for those between 2 and 3 years old. The multivariable regression analysis identified negative attitudes towards screen exposure, co-viewing and engagement, as well as single child, as significant positive independent factors for compliance with the guidelines. The risk discrimination model demonstrated good performance, with an AUC of 0.845 and 0.812 in the two younger age groups, but showed medium discrimination with an AUC of 0.691 for children between 2 and 3 years old.</p><p><strong>Conclusions: </strong>Compliance with screen time guidelines among young children in Fujian Province, East China, is generally adequate, but notably low among children between 1 and 2 years old. Targeted interventions are needed to improve compliance, particularly for this age group.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating parental knowledge and attitudes toward childhood hearing loss: a cross-sectional study in Rawalpindi, Pakistan.","authors":"Rafidah Mazlan, Hamza Mushtaq Dar","doi":"10.1186/s12887-024-05230-y","DOIUrl":"https://doi.org/10.1186/s12887-024-05230-y","url":null,"abstract":"<p><strong>Background: </strong>Childhood hearing loss poses a significant public health challenge in Pakistan, with prevalence rates over double the global average. Parental knowledge and attitudes play a crucial role in timely detection and intervention. However, limited research explores this issue within the Pakistani context. This study aimed to examine parental knowledge and attitudes regarding childhood hearing loss in Rawalpindi, Pakistan, and identify key demographic factors influencing parental perspectives.</p><p><strong>Methods: </strong>This cross-sectional survey was conducted in Rawalpindi, Pakistan from March 1 to August 31, 2023. A total of 150 parents (79 fathers and 71 mothers) of children aged 0-12 years were recruited through convenience sampling at public locations such as schools, malls, and hospitals. Data were collected through face-to-face interviews using the validated \"Parental Knowledge and Attitudes towards Childhood Hearing Loss Questionnaire,\" administered by a graduate student to assess parental knowledge and attitudes about childhood hearing loss. Descriptive statistics determined the percentage of correct responses and knowledge/attitudes scores. Chi-square tests explored associations between demographic factors and parental perspectives.</p><p><strong>Results: </strong>Overall, 67.3% of parents demonstrated good knowledge of childhood hearing loss. Notably, parents scored high on recognizing congenital causes (79.3%) but displayed low awareness of measles as a risk factor (29.3%). Significant gender disparities emerged in parental knowledge, with mothers exhibiting superior knowledge compared to fathers regarding newborn screening (63.4% vs. 46.8%), treatment availability (81.7% vs. 64.6%), and educational inclusion for children with hearing impairment (57.7% vs. 38.0%). Despite these knowledge gaps, parents generally held positive attitudes towards childhood hearing loss, with an average score of 94.7%. Gender and educational level significantly influence knowledge and attitudes.</p><p><strong>Conclusions: </strong>Although parents in Rawalpindi generally have a good understanding and positive attitudes towards childhood hearing loss, gaps in knowledge about preventable causes and gender disparities need attention. Providing tailored counselling for higher-risk, less educated groups and expanding policies for paediatric audiology services nationwide can help address these issues.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Feasibility and safety of weaning premature infants from nasal continuous positive airway pressure to high-flow nasal cannula: a prospective observational case study.","authors":"Shu-Ting Yang, Hao-Wei Chung, Hsiu-Lin Chen","doi":"10.1186/s12887-024-05167-2","DOIUrl":"https://doi.org/10.1186/s12887-024-05167-2","url":null,"abstract":"<p><strong>Background: </strong>Nasal continuous positive airway pressure (NCPAP) is widely used for premature infants with respiratory distress syndrome (RDS). A high-flow nasal cannula (HFNC) provides positive end-expiratory pressure using high-flow oxygen; however, the variability in distending pressure is a primary concern. This study evaluated the feasibility and safety of a newly designed protocol for NCPAP weaning with cyclic HFNC use for premature infants.</p><p><strong>Methods: </strong>Premature infants with RDS using NCPAP support who were ready for weaning were enrolled. The weaning protocol used cyclic NCPAP with HFNC every 3 h for 3 days in the neonatal intensive care unit. The heart rate (HR), respiratory rate (RR), pulse oximetry (SpO₂), transcutaneous carbon dioxide (PtcCO₂), and cerebral tissue oxygen saturation (StO₂) at the end of NCPAP with HFNC support were recorded once daily for 3 days.</p><p><strong>Results: </strong>From June 2019 to April 2021, 46 premature infants (27 male, 19 female) were enrolled. The mean gestational age and birth body weight were 28.7 ± 2.6 weeks and 1181 ± 354 g, respectively. No statistically significant differences in the HR, RR, SpO₂, and cerebral StO₂ during NCPAP weaning with HFNC were observed. However, the mean PtcCO₂ with NCPAP was statistically significantly lower than that with HFNC (46.9 ± 6.0 mmHg vs. 47.9 ± 6.4 mmHg, P = 0.02).</p><p><strong>Conclusions: </strong>The feasibility and safety of the NCPAP weaning protocol with cyclic HFNC for premature infants are acceptable in this preliminary study. Due to the limited number of participants, further studies are required for more comprehensive analysis.</p><p><strong>Trial registration: </strong>This prospective observational case study was approved by the Human Experiment and Ethics Committee of our hospital (approval number: KMUHIRB-SV(I)-20180059; approval date: January 11, 2019).</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.","authors":"Alex S Aguirre, Edison Haro, Alberto Campodónico, Benjamín Arias-Almeida, Alissa Mendoza, Juan Pozo-Palacios, Vanessa Isabel Romero Aguilar","doi":"10.1186/s12887-024-05140-z","DOIUrl":"https://doi.org/10.1186/s12887-024-05140-z","url":null,"abstract":"<p><p>Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme, leading to the accumulation of phenylalanine and its metabolites, which are toxic to the central nervous system. Without treatment, PKU can result in severe intellectual disability and neurological issues. This study aims to present the first cohort of clinically described Ecuadorian PKU patients, analyzing genotype-phenotype correlations and comparing these variants with global databases to improve diagnosis and treatment in Ecuador. Detailed clinical histories were collected, and an analysis of genotype versus phenotype (affected protein domain) of the variant was performed. Among the PAH genotypes identified, we found 15 distinct variants, with c.[754 C > T](p.Arg252Trp); [754 C > T](p.Arg252Trp) being the most frequent genotype (23.68%), followed by c.[1045T > C](p.Ser349Pro); [1045T > C](p.Ser349Pro) (15.79%) and c.[441 + 5G > T]; [754 C > T](p.Arg252Trp) (13.16%). Additionally, several unique genotypes were identified, such as c.[140G > A](p.Ala47Val); [140G > A](p.Ala47Val) and c.[331 C > T](p.Arg111Ter); [1243G > A](p.Asp415Asn), which are not commonly reported in other populations. Most genotypes were heterozygous (63.2%). The majority of variants were missense variants (66.6%) affecting the catalytic domain (53.3%). The highest phenylalanine levels were found in patients with c.[754 C > T](p.Arg252Trp); [754 C > T] (p.Arg252Trp) (2700 umol/L). Phenotypic data were available for 11 patients, showing 45.45% with classic PKU, 45.45% with mild hyperphenylalaninemia, and 9% with mild PKU. There was a 63.6% concordance with the BIOPKU database. Five low-frequency genotypes not reported in BIOPKU were identified, suggesting unique regional variants. Our study highlights the genetic complexity of PKU in Ecuador, with a high prevalence of unique variants not commonly found in other regions. This underscores the necessity for region-specific genetic analysis to improve PKU diagnosis and treatment. The findings emphasize the importance of tailored therapeutic strategies and continued research to enhance outcomes for PKU patients in Latin America.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early childhood development and its associated factors among children aged 36-59 months in Afghanistan: evidence from the national survey 2022-2023.","authors":"Omid Dadras, Muhammad Haroon Stanikzai, Massoma Jafari, Essa Tawfiq","doi":"10.1186/s12887-024-05222-y","DOIUrl":"10.1186/s12887-024-05222-y","url":null,"abstract":"<p><strong>Background: </strong>Understanding the status of early childhood development (ECD) and its associated factors could serve as the basis for future policy efforts and interventions. Therefore, this study aimed to determine the status of ECD and its associated factors among children aged 36-59 months in Afghanistan.</p><p><strong>Methods: </strong>We used data from the Afghanistan Multiple Indicator Cluster Survey 2022-2023 (MICS) to assess ECD status. The outcome variable was a binary measure, indicating whether a child was developmentally on track or not. To explore the associations between ECD status and various explanatory variables, we applied binary logistic regression models, presenting both univariate and multivariate analyses.</p><p><strong>Results: </strong>Among the 13,866 children aged 36 to 59 months included in the analysis, 29.95% (95% CI: 29.19-30.72%) were found to be developmentally on track. The likelihood of being developmentally on track was higher in children whose mothers had secondary [adjusted odds ratio (AOR) 1.36 (95%CI 1.04-1.77)] and higher education [1.73 (1.08-2.76)], in children whose fathers had primary [1.32 (1.05-1.67)], secondary [1.40 (1.10-1.79) and higher education [1.60 (1.21-2.11)], and in children belonging to the higher household wealth status [1.46 (1.18-1.82)]. On the other hand, the likelihood of being developmentally on track was lower in children aged 48-59 months [0.35 (0.30-0.40)], in children living in rural areas [0.77 (0.62-0.96)], in children with stunting [0.77 (0.61-0.96)], and in underweight children [0.61 (0.52-0.72)].</p><p><strong>Conclusion: </strong>Our findings indicate that 29.95% of children aged 36-59 months in Afghanistan are developmentally on track. Positive associations were found between ECD and higher parental education and household wealth status. However, living in rural areas, underweight and stunted growth were negatively associated with ECD. To improve early childhood development programs in Afghanistan, targeted interventions are needed to address the factors identified in this study.</p>","PeriodicalId":9144,"journal":{"name":"BMC Pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562857/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142614767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}