Frontiers in Pediatrics最新文献

Glutaric acidemia type II (GAII) is an autosomal recessive genetic metabolic disorder associated with mitochondrial dysfunction, characterized by multiple acyl-CoA dehydrogenase deficiency that affects fatty acid metabolism. Necrotizing enterocolitis (NEC) represents a severe inflammatory condition affecting premature neonates. This report describes a case involving a male preterm infant born at a gestation of 30^+ 1 weeks who developed NEC complicated by GAII. On the eighth day of life, the patient exhibited abdominal distension and vomiting. Diagnostic imaging, including abdominal B-ultrasound and x-ray, revealed thickened bowel walls, multiple intestinal pneumatosis, and partial intestinal dilation, consistent with NEC. Subsequent recurrent episodes of acidosis, hyperlactacidemia, and hypoglycemia were observed. Diagnosis of GAII was confirmed through tandem mass spectrometry analysis of a blood sample. Genetic metabolic diseases may complicate or mimic common infections, leading to potential misdiagnosis. A differential diagnosis of GAII should be considered when active anti-infective treatments fail.

Background: To evaluate global, regional, and national trends in the burden of neonatal diseases attributable to LBW, as well as associated health inequalities, from 1990 to 2021.

Methods: Using data from the Global Burden of Disease Study (GBD2021), we analyzed deaths and DALYs due to LBW-attributable neonatal diseases. Data were stratified by gender, geographic region, epidemiological characteristics, and SDI levels. Trends and influencing factors were investigated through Joinpoint regression, health inequality analysis, and frontier modeling.

Results: In 2021, the global age-standardized mortality rate (ASMR) and age-standardized disability-adjusted life year (DALY) rate (ASDR) for neonatal diseases associated with low birth weight (LBW) were 22.76 [95% uncertainty interval (UI): 19.63-26.40] and 2,227.54 (95% UI: 1,939.96-2,563.52) per 100,000, respectively. Over the past 32 years, these rates have consistently declined, with average annual percentage changes (AAPCs) of -1.40 [95% confidence interval (CI): -1.48 to -1.33] for ASMR and -1.27 (95% CI: -1.34 to -1.21) for ASDR. Notably, absolute health inequality related to the Socio-demographic Index (SDI) has decreased, as indicated by a reduction in DALY disparities between the most and least developed countries from -4,216.49 (95% CI: -4,558.27 to -3,874.71) in 1990 to -2,635.35 (95% CI: -2,868.40 to -2,402.30) in 2021. However, relative health inequality has worsened, with the relative disease burden in low-SDI countries increasing from -33.46% (95% CI: -36.29% to -30.63%) to -40.20% (95% CI: -44.02% to -36.39%). The burden of neonatal diseases remains disproportionately concentrated in low-SDI regions. Frontier analyses highlight opportunities for improvement across development levels. Some low-SDI countries have achieved minimal theoretical disease burdens, whereas certain high-SDI countries lag in reducing their neonatal disease burdens.

Conclusion: Over the past 32 years, the global burden of neonatal diseases attributable to LBW has significantly decreased, but inequality in disease burden has intensified. Addressing this disparity requires sustained international and governmental efforts to improve the accessibility, equality, and quality of healthcare for pregnant women and newborns.

Dilated cardiomyopathy (DCM) in children is a severe myocardial disease characterized by enlargement of the left ventricle or both ventricles with impaired contractile function. DCM can cause adverse consequences such as heart failure, sudden death, thromboembolism, and arrhythmias. This article reviews the latest advances in genotype and phenotype research in pediatric DCM. With the development of gene sequencing technologies, considerable progress has been made in genetic research on DCM. Research has shown that DCM exhibits notable genetic heterogeneity, with over 100 DCM-related genes identified to date, primarily involving functions such as calcium handling, the cytoskeleton, and ion channels. As human genomic variations are linked to phenotypes, DCM phenotypes are influenced by numerous genetic variations across the entire genome. Children with DCM display high genetic heterogeneity and are characterized by early onset, rapid disease progression, and poor prognosis. The genetic architecture of pediatric DCM markedly differs from that of adult DCM, necessitating analyses through clinical phenotyping, familial cosegregation studies, and functional validation. Clarifying the genotype-phenotype relationship can improve diagnostic accuracy, enhance prognosis, and guide follow-up treatment for genotype-positive and phenotype-negative patients identified through genetic testing, providing new insights for precision medicine. Future research should further explore novel pathogenic genes and mutations and strengthen genotype-phenotype correlation analyses to facilitate precise diagnosis and treatment of DCM in children.

Fibrous dysplasia is a congenital, non-inherited, benign intramedullary bone lesion in which the normal bone marrow is replaced by abnormal fibro-osseous tissue. The disorder can be monostotic (involving a single bone) or polyostotic (involving multiple bones). As the abnormal fibro-osseous tissue compromises the mechanical strength of bone, it can result in pain, deformity, fractures, or abnormalities in bone mechanics with inappropriate bone alignment. This narrative review attempts to summarize more than 20 years of observations of patients with FD to help pediatric orthopedists establish a care framework that can improve its identification, understand the impact that endocrinopathies can have on its clinical presentation, and optimize the management of bone disorders. Our focus is specifically on orthopedic manifestations of FD and modern management alternatives. The past 20 years have provided major advances in understanding of fibrous dysplasia (FD), and it is clear that the pediatric orthopedist's role remains highly relevant in the management of all types of FD. Surgical treatment remains appropriate when pain is unresponsive to other medical treatments, when a pathological fracture is impending or has happened, when a deformity is worsening or has formed, or when there is a suspicion of malignant transformation. The pediatric orthopedist must be aware, therefore, of the particularities of the different bones on which they may be called to intervene, and they should give very careful consideration to their operative strategy, which must be adjusted to the biological and static characteristics of the bone.

Background: Premature delivery interrupts the natural growth of the fetus. The postnatal healthy management of preterm infants still follows term standards after a postmenstrual age (PMA) of 40 weeks and there is a lack of research on the longitudinal dynamic postnatal growth tracks of preterm infants.

Methods: Based on the database established by the Wuhan University Internet+ Early Childhood Development Alliance in China, information on preterm infants, including birth registration and health follow-ups from 2016 to 2022, was incorporated into the health management system. Standardized anthropometric measurements of preterm infants were recorded from birth to a corrected age (CA) of 36 months. A generalized additive model based on location, scale, and shape was used to establish the percentile values and growth curves.

Results: In total, 79,514 preterm infants were included in this study, and the birth weights at each gestational age (GA) were similar to Chinese standards. When evaluated by term birth weight, we found that the proportions of extrauterine growth retardation at a PMA of 40 weeks were all above 10% in the GA ≤34-week groups and reached between 17.19% and 55.56% in very preterm infants (VPIs). There was a high incidence of preterm infants with a weight below the third percentile in VPIs when referring to term standards at CAs of 0, 6, 12, 24, and 36 months (p < 0.001). We established natural growth curves of the preterm population with different GAs between CAs of 0 and 36 months, which indicated that the weight/length of late preterm infants was close to term standards while the growth trajectory of VPIs consistently lagged behind (p < 0.001).

Conclusion: Our study revealed the different growth trajectories of preterm infants with different GAs. A set of growth curves and percentile values for preterm infants of different GAs between CAs of 0 and 36 months were established, offering an optional method for growth assessment of this special population.

We describe the rare case of a previously healthy seven year-old boy, with an acute clinical onset of severe pulmonary hypertension. He recovered rapidly after vitamin supplementation. Patient history showed a highly selective food intake in the context of autistic features. Thiamine deficiency seemed to be the predominant causing factor aggravated by moderate iron deficiency and supposed vitamin C deficiency. Dietary impact on pulmonary pressures is still poorly understood, but it seems that micronutrient deficiency could be a rare cause of pulmonary hypertension. Relatively frequent in developing countries and mostly in infants, thiamine deficiency should not be forgotten as a potential etiology in the differential diagnosis when patient dietary history is particular.

Background: Necrotizing pneumonia is a serious complication of Mycoplasma pneumoniae infection, especially in pediatric patients. Although necrotizing pneumonia is a rare condition, the occurrence of unilateral necrosis in two entire lobe tissues is even rarer. This case study presents a 5-year-old male child with necrotizing pneumonia caused by Mycoplasma pneumoniae, describing the clinical features, laboratory abnormalities, and radiographic findings associated with this condition, particularly the rare occurrence of unilateral necrosis in two entire lobe tissues.

Case presentation: The patient presented with a 14-day history of fever and cough, accompanied by paroxysmal cough with continuous sounds, congested throat, increased respiratory effort, and abnormal lung findings on physical examination. Laboratory investigations revealed elevated white blood cell count, increased inflammatory markers, elevated liver enzymes, coagulation dysfunction, and hypoalbuminemia. Imaging studies showed the presence of pleural effusion and progressive necrotizing pneumonia, including the rare occurrence of unilateral necrosis affecting both entire lobe tissues.

Conclusion: Necrotizing pneumonia caused by Mycoplasma pneumoniae infection can present with prolonged fever, elevated inflammatory markers, pleural effusion, and progressive necrosis of lung tissue, with the occurrence of necrosis observed unilaterally in both entire lobe tissues is even rarer. Monitoring D-dimer levels is essential for evaluating the possibility of necrotizing pneumonia. Early recognition and appropriate management are crucial to improve outcomes in these patients.

Background: Optimum neonatal resuscitation practices are vital for improving neonatal survival and neurodevelopment outcomes, particularly in extremely preterm infants. However, such practices may vary between high-income countries (HICs) and low-middle-income countries (LMICs). This study aimed to evaluate the resuscitation practices of high-risk infants in a large multi-country sample of healthcare facilities among HICs and LMICs in Asia under the AsianNeo Network.

Methods: In 2021, a customized 6-item online survey on resuscitation practices of infants born at <29 weeks gestation (or birth weight <1,200 g) was sent by the representative of each country's neonatal network to all the Neonatal Intensive Care Units (NICUs) participating in AsianNeo network. At the time of the survey, there were 446 participating hospitals in eight countries: four high-income countries (Japan, Singapore, South Korea, and Taiwan) and four low-middle-income countries (Malaysia, Indonesia, Philippines, and Thailand).

Results: The study included 446 hospitals, with a response rate of 72.6% (ranging from 62.7% to 100%), with 179 (55.2%) in HICs and 145 (44.7%) in LMICs. Routine attendance of experienced NICU physicians during resuscitations is reported to be higher in HICs than LMICs, both during daytime (79% vs. 40%) and nighttime (62% vs. 23%). The NRP guidelines in each country were varied, with 4 out of 8 countries using indigenously developed guidelines. Equipment availability during resuscitation was also variable; saturation monitors, radiant warmers, and plastic wraps were available in almost all hospitals, whereas oxygen and air blenders, heated humidified gas, and end-tidal CO₂ detectors were more available in HICs. The most common device for Positive Pressure Ventilation (PPV) was the T-piece resuscitator (52.3%).

Conclusion: The neonatal resuscitation practices for extremely preterm infants, encompassing staff, equipment, and guidelines, exhibited variance between HICs and LMICs in the AsianNeo region. Further enhancements are imperative to narrow this gap and optimize neonatal outcomes.

Aims: To describe the factors associated with malignancy in otherwise healthy children with focal persistent isolated craniocervical lymphadenopathy at low risk for malignancy, in order to aid in decisions of nodal surgical excision.

Material and methods: Demographic and clinical data were retrospectively obtained for children with subacute and chronic craniocervical lymphadenopathy, treated from January 2008 to December 2020 at a general pediatric ambulatory clinic of a tertiary center. Univariate and multivariate analyses of risk factors for malignancy were performed.

Results: Of the 450 children included, median age 4.2 years (interquartile age: 2.4-8.7), 25 (5.6%) were eventually diagnosed with a malignancy. In univariate analysis, factors associated with malignancy included older age, increased nodal size, location (supraclavicular and lateral cervical), systemic signs such as decreased appetite and weight loss, and abnormal imaging studies. Referral by an ear, nose, throat specialist vs. a family physician or a pediatrician was also associated with malignancy. Fever, night sweats, pruritus, hepatosplenomegaly and laboratory workup were not associated with malignancy. Twenty percent of the children older than 12.5 years and 12% of those with a lymph node diameter >31 mm were diagnosed with malignancy. Multivariate analysis showed associations with malignancy of older age and larger lymph nodes; the respective odds ratios were 1.649 (95%CI: 1.197-2.349, p = 0.004) for every 3 years and 2.080 (95%CI: 1.292-3.330, p = 0.002) for every one centimeter.

Conclusions: Older age and increased nodal size can help identify children with focal craniocervical lymphadenopathy who are at increased risk for malignancy and for whom surgical intervention should be strongly considered.