Pediatrics and Neonatology最新文献

Aim: This study aimed to explore whether microRNAs (miRNAs) could serve as biomarkers of perinatal asphyxia and whether they were correlated with severity of brain magnetic resonance imaging.

Methods: We prospectively enrolled 26 full-term newborns, including 10 with perinatal asphyxia and 16 healthy controls. Plasma samples were collected at 0-6 h and 7 days of age. Encephalopathy was classified according to modified Sarnat staging. Magnetic resonance imaging was performed in surviving infants within 30 days of birth, and a score was established. We used next-generation sequencing to explore differentially expressed miRNAs, which were then further validated using quantitative reverse transcription real-time polymerase chain reaction (RT-PCR).

Results: A significantly lower expression of miR-486-5p was found at 0-6 h of age in the asphyxiated newborns compared with the healthy controls (p = 0.005). The area under the receiver operating characteristic curve (AUC) of miR-486-5p at 0-6 h of age to differentiate the perinatal asphyxia group from the healthy control group was 0.831, and the AUC to differentiate newborns eligible for therapeutic hypothermia from others was 0.782. In addition, a lower expression of miR-486-5p at 7 days of age was noted in the asphyxiated newborns with adverse outcomes compared to those with normal outcomes.

Conclusion: MiR-486-5p may be a biomarker of perinatal asphyxia in newborns, and further research is warranted to clarify its role.

Background: SCN1A channelopathy is the most well-known cause for epileptic encephalopathies and contributes to a wide phenotypic spectrum. The variable expressivity is troublesome for the interpretation of clinical significance and prognoses. To investigate the clinical manifestations, medications and outcomes of patients with SCN1A channelopathies, we conducted this observation retrospective study in Taiwan.

Methods: A cohort consisting of 16 patients (5 males and 11 females) from multiple centers with identified SCN1A variants was investigated and phenotypically relevant factors were recorded. The variants were identified using NGS and confirmed by Sanger sequencing. A panel of 90 epileptic-related genes was used to identify SCN1A variants and to evaluate some of the potential SCN1A modifier genes.

Results: The mean age of seizure onset was 10.4 months. Twelve of the sixteen patients (75%) had different degrees of neurocognitive sequela and psychobehavioral comorbidity in our cohort. Cognitive impairment was noted in all ten patients with Dravet syndrome (DS) and in two of the patients with non-DS phenotypes. A lower response rate to medications was also noted in patients with DS. Notably, a medication-specific tendency towards valproic acid (VPA), clobazam (CLB), and levetiracetam (LEV) was observed, revealing the effective pharmacotherapies for SCN1A-related seizures. An asymptomatic carrier with a reported pathogenic SCN1A variant was reviewed along with her monozygotic twin sister with DS. Nine novel SCN1A mutations are herein reported, eight of which being classified as pathogenic.

Conclusion: Our study revealed unfavorable outcomes for patients with SCN1A variants. Some patients with SCN1A channelopathy showed specific responsiveness to the pharmacotherapies previously either recommended or contraindicated for these patients. Our study also expands the genotype and provides valuable prognostic insights in patients with SCN1A channelopathy.

Objective: Protocadherin-19 (PCDH19) epilepsy is a rare female restricted epilepsy syndrome with early onset seizures and developmental delay caused by a change or mutation of the PCDH19 gene on the X chromosome. SCN1A-negative patients with a Dravet-like phenotype may have a gene mutation in PCDH19. The aim of this case series was to characterize the phenotype of epileptic patients according to PCDH19 mutations, antiseizure medications, brain images and mutation types in Taiwan.

Methods: We retrospectively reviewed the medical records of patients with PCDH19 epilepsy from July 2017 to December 2021 from multiple centers in Taiwan. We analyzed the patients' clinical data and genetic reports.

Results: Fifteen female patients (age 3-23 years) were enrolled. Seizure onset was at 4 months to 2 years 7 months of age with generalized tonic-clonic or focal seizures. Seizure frequency tended to be in clusters rather than single longer seizures. The patients had varying degrees of intellectual disability, however 3 had no impairment. Two patients had abnormal brain images including mesial temporal sclerosis, subcortical and periventricular white matter lesions. On average, the patients received 4 antiseizure medications (range 3-6), including 9 patients who were seizure free, and 3 who received sodium channel blockers without aggravation. Missense and truncating variants (frameshift and nonsense variants) accounted for 40% and 46.7% of all mutations. The mutations of 13 patients were located on EC1 to EC4, and EC5 to cytoplasmic domain in 2 patients.

Significance: PCDH19 epilepsy has distinct phenotypes and an unusual X-linked pattern of expression in which females manifest core symptoms. Psychiatric and behavioral problems are frequently part of the clinical picture. Patients are usually treated with a wide array of standard antiseizure medications, with no preferred antiseizure medication class. No strong correlations between phenotype and location of variant mutations were found in our patients.

Background: Premature and small-for-gestational-age (SGA) infants tend to have long-term growth morbidities such as short stature, failure to thrive, and obesity. Although most of these infants show catch-up growth at 2-4 years of age, they are still more susceptible to childhood obesity and related metabolic disorders. Those who fail to achieve catch-up will suffer from pathological short stature and neurodevelopmental impairment through adulthood. This study aims to depict the growth pattern of premature or SGA infants and their growth morbidities in Taiwan.

Methods: Data were obtained from a nationally representative cohort of 24,200 pairs of postpartum women and newborns in the Taiwan Birth Cohort Study (TBCS), using structured questionnaire interviews. A total of 16,358 infants were included and three follow-up surveys were completed at 6, 18, and 36 months after the deliveries. We constructed growth curves to conduct an in-depth investigation into anthropometric data, applying a linear mixed model. Logistic regression was used to model the relevant outcomes, with adjustment for various potential confounding factors.

Results: Despite being born shorter and lighter, preterm and SGA infants generally showed catch-up growth and had no higher odds ratios (ORs) of developing short stature or failure to thrive compared to appropriate-for-gestational-age (AGA) term infants before 3 years of age. Preterm SGA infants, particularly females, had higher ORs for obesity at the 36-month follow-up.

Conclusion: This is the first nationwide population-based study depicting the growth of SGA infants in Taiwan. The growth patterns of preterm and term SGA infants are different from those of preterm and term AGA infants. Further research is necessary to understand the growth trajectories of preterm and SGA infants and their associations with later diseases.

Background: Despite significant progress in its health sector, Bangladesh has a high burden of diarrheal mortality and morbidity in the South Asian region. Given recent major social and economic transitions in Bangladesh, it is important to examine how patterns of diarrhea and its treatment have evolved over the past few decades. The current study aims to assess the temporal changes in the frequency of diarrhea and identify the factors that influence whether affected children receive proper treatment.

Methods: The current study utilized data from three Bangladesh Multiple Indicator Cluster Surveys (MICS), 2006, 2012-13, and 2019, respectively. Binary logistic regressions were conducted, and the reported results included odds ratios (OR) and 95% confidence intervals (CIs). A p-value of <0.05 was considered statistically significant (α = 0.05).

Results: The prevalence of diarrhea in Bangladesh declined from 7.05% in 2006 to 3.91% in 2012-13, but then increased to 8.78% in 2019. The proportion of children with diarrhea who received oral rehydration therapy (ORT) was 68.91%, 77.35%, and 70.59% respectively. Binary logistic regression indicated that older children (OR:0.54; CI:0.51-0.58), females (OR:0.92; CI:0.86-0.98), children from upper quintile families, and children from mothers having primary education (OR:0.9; CI:0.83-0.98) were less likely to suffer from diarrhea. However, the odds of receiving proper treatment with ORT were higher among older children (OR:1.45; CI:1.26-1.68), children from the rich and richest quintiles (OR:1.85; CI:1.47-2.32 and OR:1.7; CI:1.32-2.2 respectively). Also, it was the same for children from mothers with primary (OR:1.19; CI:1.01-1.41) and secondary or above education (OR:1.32; CI:1.12-1.56).

Conclusion: A targeted approach is needed to reduce diarrhea and promote the use of ORT. Maternal education can be an important intervention, and steps should be taken to reduce poverty. Future policies should consider strategies focusing on socioeconomic and environmental factors.

Background: Myeloablative, high-dose chemotherapy followed by autologous peripheral blood stem cell transplantation (PBSCT) improves outcome in some high-risk malignant solid tumors and lymphomas in children and young adults.

Methods: We performed 16 peripheral blood stem cell (PBSC) harvests in 12 children and 2 young adult patients with a high-risk malignant solid tumor or refractory/relapsed Hodgkin's lymphoma from August 2015 to December 2020. In our chemotherapy mobilization protocol, we used an absolute neutrophil count (ANC) of >1 × 10⁹/L following the nadir after chemotherapy as the criterion for undertaking the apheresis.

Results: The median CD34⁺ cell count per kg body weight of the 33 apheresis products was 4.92 × 10⁶ cells/kg (range, 0.34-22.53 × 10⁶ cells/kg). Thirteen of the 14 patients (93%) had successful PBSC collections that met their goals for PBSCT. Three patients did not receive PBSCT due to disease progression prior to transplantation. Prompt engraftment occurred in all the remaining 11 patients with 17 PBSCTs.

Conclusion: Our data suggest that ANC can be helpful as a surrogate parameter in clinical decision-making when the peripheral blood CD34⁺ count is unavailable.

Background: The present research aimed to investigate the clinical value of plasma miR-190 in children with acute respiratory distress syndrome (ARDS) and the impact of miR-190 on LPS-induced ARDS cell models.

Methods: The plasma miR-190 levels were measured using real-time quantitative reverse transcription PCR (RT-qPCR). LPS-treated human pulmonary microvascular endothelial cells (HPMECs) were established and then transfected with miR-190 mimic, inhibitor, or miR-negative controls. The levels of inflammatory factors were detected by enzyme-linked immunosorbent assay (ELISA). The effects of miR-190 on HPMEC proliferation and apoptosis were evaluated by CCK-8 assay and flow cytometry. The regulation of KLF15 by miR-190 was detected by luciferase report assay.

Results: The plasma miR-190 expression was increased in ARDS children and it was positively related to the severity and 28 day-survival. Plasma miR-190 could distinguish ARDS children from healthy children. Inhibition of miR-190 increased LPS-induced HPMEC cell proliferation and decreased cell apoptosis and inflammatory cytokines IL-6, IL-1β, and TNF-α. KLF15 was a direct target of miR-190.

Conclusion: Increased plasma miR-190 may be a clinical diagnostic and prognostic predictor for ARDS children. Inhibition of miR-190 may improve LPS-induced ARDS by increasing cell proliferation, inhibiting cell apoptosis and inflammatory response by targeting KLF15.

Objectives: To describe presentations, management and outcomes of retropharyngeal and parapharyngeal infections in children presenting to a tertiary care pediatric emergency department.

Methods: A retrospective chart review of children with deep neck infections such as retropharyngeal or parapharyngeal infection from January 2008 to December 2018 was conducted at a pediatric hospital.

Results: There were 176 retropharyngeal, 18 parapharyngeal and 6 with both retropharyngeal and parapharyngeal infections treated during the 10-year study period. Males were 60% of the cohort and the mean age was 4.3 (SD: 3.2) years. No significant differences in age or sex ratio or presentations were seen in children with retropharyngeal infections compared with parapharyngeal infections. All received parenteral antibiotics; 42% (84/200) of children underwent surgery and four of them had more than one surgical drainage. Age <12 months and the diagnosis of parapharyngeal infections were associated with significantly higher rates of surgical treatment. Children under 12 months of age were sicker at presentation and had a high complication rate of 23% compared with 1% in the older children (p = 0.002). Seven children had co-existence of Kawasaki disease with deep neck infections.

Conclusions: Early diagnosis of retropharyngeal and parapharyngeal infections especially in infants under a year of age is important as they are more likely to have complications and need surgical management. Most paediatric patients with retropharyngeal and parapharyngeal infections have a phlegmon or very small abscesses and are treated non-operatively with parenteral antibiotics.

Background: Over the last decade, the intravenous (IV) formulation of acetaminophen (APAP) has gained popularity as a safe and effective first-line analgesic in the neonatal intensive care unit and it is especially useful in peri-operative settings where oral agents are contraindicated. The primary objective was to examine the outcomes and costs associated with the use of IV APAP in combination with opioids versus opioids alone as a pain management strategy after neonatal esophageal atresia (EA) and tracheoesophageal fistula (TEF) repair.

Methods: Data from the Pediatric Health Information System was used to examine 1137 hospitalizations for EA/TEF repair from October 2015 to September 2018. Neonates administered opioids only, or IV APAP in combination with opioids as pain management, were included.

Results: Neonates receiving IV APAP experienced a longer median LOS, but a significantly lower mortality rate, a decreased mean daily cost, and reduced opioid use compared to neonates given only opioids. The two groups had no significant differences in pharmacy and total costs.

Conclusion: Our findings suggest that the use of IV APAP alongside opioids in EA/TEF repair is associated with reduced mortality and opioid use, as well as longer LOS.