BACKGROUND:Early-onset neonatal sepsis (EOS) remains a major cause of neonatal morbidity and mortality in low- and middle-income countries. Data from Central Africa on microbiological patterns, antimicrobial resistance, and diagnostic stewardship are limited. METHODS:We conducted a retrospective cohort study including neonates ≤72 h of life managed for suspected EOS between January 2021 and September 2025 at a tertiary neonatal intensive care unit in the Eastern Democratic Republic of the Congo. Diagnostic stewardship indicators included blood culture sampling proportion, positivity rate, and contamination rate. Multivariable logistic regression identified independent predictors of in-hospital mortality. RESULTS:Among 1293 neonates with suspected EOS, blood cultures were performed in 604 (46.7%). The positivity rate for true pathogens was 17.4% (105/604), and 10.1% of cultures were classified as contaminants. Among inborn neonates, the incidence of culture-confirmed EOS was 8.4 per 1000 live births. Gram-negative bacilli accounted for 78.1% of confirmed cases, predominantly Enterobacterales. High resistance to gentamicin and third-generation cephalosporins was documented, with frequent extended-spectrum beta-lactamase production. In the revised multivariable model, low birth weight was independently associated with increased in-hospital mortality (aOR 2.97; 95% CI 1.74-5.09), whereas culture-confirmed EOS was not independently associated with death. CONCLUSION:EOS in this setting was characterized by Gram-negative predominance, substantial antimicrobial resistance, and important diagnostic stewardship constraints. The high prevalence of multidrug-resistant Enterobacterales raises concerns regarding the adequacy of current WHO-recommended empirical regimens in similar LMIC settings. Low birth weight emerged as the strongest independent predictor of in-hospital mortality. Strengthening microbiological capacity, infection prevention practices, and locally adapted antimicrobial stewardship strategies is essential to improve neonatal outcomes in this setting.
BACKGROUND:Prader‒Willi syndrome (PWS) is a genetic disorder characterized by hypotonia, feeding difficulties in infancy, excessive eating in childhood, intellectual disability and short stature. Growth hormone therapy (GHT) improves body composition and decreases fat percentage in patients with PWS. However, the effect of GHT on cognitive function is not clear. OBJECTIVES:The aim of this study was to evaluate the beneficial effects of GHT on cognition in younger patients with PWS. METHODS:A retrospective analysis of patients with PWS who received GHT in four hospitals was conducted in Taiwan. Patient demographics, molecular diagnosis, age at GHT initiation, GHT dose, developmental quotient/full-scale intelligence quotient (DQ/FSIQ) scores, and verbal intelligence quotient/verbal comprehension index (VIQ/VCI) scores were analyzed. RESULTS:This retrospective study included a total of 61 patients. Seven patients who did not receive growth hormone treatment were assigned to the control group, while the remaining 54 patients composed the treatment group. After applying the exclusion criteria, 47 patients were ultimately included in the analysis. Twenty-nine patients were treated before 3 years of age, and eighteen patients were treated after 3 years of age. The DQ/FSIQ score was significantly greater in the younger age group (p < 0.05). Specifically, in the nondeletion type and female groups, younger patients presented significantly higher DQ/FSIQ scores (p < 0.05). Compared with the untreated group, the early GH treatment group had significantly higher VIQ/VCI scores (p < 0.05). According to linear regression, the age at GHT initiation was significantly negatively correlated with the DQ/FSIQ score (β1 = -1.264, R2 = 0.184, F = 4.16, p < 0.05) and the VIQ/VCI score (β(VIQ)1 = -1.981, R2 = 0.242, F = 4.09, p < 0.05). CONCLUSION:The initiation of GHT before 3 years of age and as early as possible had a significant effect on cognitive development after adjustments were made for sex and molecular type.
BACKGROUND:Gene-environment interactions may lead to varying predispositions to different allergies. Children from cross-border marriage families were predominantly born in Taiwan. This study aimed to compare allergic disease prevalence in children from families with foreign female spouses to those with Taiwanese female spouses and assess the association between female spouse origin and allergic diseases. METHODS:This population-based, cross-sectional survey on 3172 grade-one schoolchildren aged 6-8 in Taiwan used stratified cluster random sampling. We used logistic regression to examine the association between covariates (including demographics, female spouse origin, perinatal and other exposures) and outcomes (wheezing, allergic rhinitis/hay fever ever, and eczema). RESULTS:Among 3172 children, 13.8% had at least one foreign-born parent, predominantly female spouses (11.7%), with 2.6% being foreign-born male spouses. In families with foreign-born female spouses, children (95.5% born in Taiwan) showed a lower prevalence of allergic diseases than those from Taiwan, including ever having rhinitis [29.4% vs. 51.0% (P-value < 0.001) in boys and 31.4% vs. 42.5% (P-value: 0.009) in girls], current rhinitis [25.6% vs. 46.9% (P-value < 0.001) in boys and 28.1% vs. 38.4% (P-value: 0.013) in girls], ever diagnosed with allergic rhinitis/hay fever [24.9% vs. 34.7% (P-value: 0.034) in boys and 17.0% vs. 29.2% (P-value < 0.001) in girls], and diagnosed eczema [15.3% vs. 27.6% (P-value: 0.001) in boys and 11.2% vs. 22.2% (P-value: <0.001) in girls]. Adjusted for covariates, boys from families with a foreign female spouse had lower odds of ever having rhinitis (adjusted odds ratio = 0.498, 95% confidence interval: 0.322-0.772), current rhinitis (aOR = 0.480, 95% CI: 0.310-0.743) and diagnosed eczema (aOR = 0.472, 95% CI: 0.273-0.815). Similarly, girls from these families had lower odds of ever being diagnosed with allergic rhinitis/hay fever (aOR = 0.591, 95% CI: 0.351-0.994) and diagnosed with eczema (aOR = 0.536, 95% CI: 0.303-0.947). CONCLUSION:Cross-border marriage children had lower odds of developing rhinitis and eczema than those from native families, highlighting the importance of genetics or interactions between genetic and environmental influences on allergies. Additionally, gene-environment interactions exhibited varying impacts on childhood allergies.
OBJECTIVE:Limited evidence suggests an association between Helicobacter pylori (H. pylori) infection and diminished cognitive function in children; nonetheless, the role of gastric inflammation remains unclear. We examined the association of H. pylori infection and serum pepsinogens, markers of gastric inflammation, with cognitive function in children aged 10-12 years. METHODS:A prospective cohort study was conducted among 233 infants from Arab towns in Israel, who were followed up at ages 10-12 years. Cognitive function was assessed using the Wechsler Intelligence Scale for Children-IV edition. H. pylori in infancy and at school age was detected via stool antigen detection enzyme immunoassay. Serum pepsinogens I (PGI) and PGII, markers of gastric inflammation, were measured using ELISA. Covariates included sociodemographics, nutritional status, and systemic inflammation. RESULTS:Overall, 134 participants were enrolled, 81 (60.4%) tested H. pylori-positive. Compared to uninfected participants, those with H. pylori-positivity at school age and with a ratio of PGI:PGII≤4.43 (indicating more severe inflammation) had lower full-scale IQ scores: beta coefficient -5.9 (95% CI -11.7, -0.01), as well as those with a PGI:PGII ratio>4.43 (milder inflammation) -7.5 (-12.7, -2.2), adjusting for confounders. Results were similar for the verbal comprehension and working memory scores, and in inverse probability weighted analysis that accounted for the non-inclusion of participants from the original cohort. Children with persistent infection from infancy to school age had the lowest cognitive performance. CONCLUSIONS:H. pylori infection is associated with reduced cognitive performance in school-age children, regardless of gastric inflammation, highlighting its potential role in extra-gastrointestinal outcomes.
BACKGROUND:Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is the most common inherited adrenal disorder in children. Clinical severity is determined by residual CYP21A2 enzyme activity. This study aimed to characterize the clinical and genetic spectrum of classic CAH and to evaluate genotype-phenotype correlations in a Taiwanese cohort. METHODS:We retrospectively reviewed 53 patients with classic CAH (31 salt-wasting [SW], 22 simple virilizing [SV]) followed at Linkou Chang Gung Memorial Hospital between 1987 and 2023. Clinical characteristics, biochemical profiles, electrolyte disturbances, and CYP21A2 genotypes were analyzed. Virilization in females was graded using the Prader scale. Statistical analyses were performed using nonparametric methods. RESULTS:Patients with SW CAH were diagnosed significantly earlier than those with SV CAH (median 16.4 days vs. 6.1 years, p < 0.0001) and exhibited more pronounced electrolyte abnormalities, including lower sodium (p = 0.0004) and higher potassium levels (p = 0.0061). Among 35 patients who underwent genetic testing (70 alleles), the most common variants were c.293-13A > G and p.Ile173Asn (c.518T > A), which were predominantly associated with SW and SV phenotypes, respectively. Female patients with SW CAH demonstrated more severe virilization (Prader stages 3-5 in 82.4%) compared with those with SV CAH (p = 0.0012). Overall genotype-phenotype concordance was high, although a minority of cases showed discordance between predicted enzymatic activity and clinical severity. CONCLUSIONS:Salt-wasting CAH was the predominant form in this Taiwanese cohort, and the CYP21A2 mutation spectrum was consistent with global reports. The severity of virilization correlated with underlying enzymatic activity, supporting the clinical utility of genotyping for disease prediction and counseling. However, discordant cases highlight the potential role of modifying factors and underscore the need for individualized clinical management.
Background Developmental dysplasia of the hip (DDH) can cause long-term disability if left untreated. Preventive and supportive strategies include educating caregivers on safe swaddling, babywearing, and appropriate infant handling. This study determined the time to hip ultrasonographic normalization during year 1 in infants with DDH and explored factors associated with recovery, focusing on the association between comprehensive nurse-led education-based care and hip normalization. Methods This retrospective cohort study included infants who received a DDH diagnosis at Changhua Christian Children’s Hospital between April 2022 and December 2023. All infants were monitored for 1 year. Cox proportional hazards regression with Firth’s penalized likelihood was performed to identify factors associated with recovery. Results The study cohort comprised 58 infants: 31 (53.4%) with Graf type IIc hips, 25 (43.1%) with type D hips, and 2 (3.4%) with type III hips. During follow-up, 50 (86.2%) infants achieved hip ultrasonographic normalization, whereas 8 (13.8%) did not. Of the infants, 69.2% achieved ultrasonographic normalization within 184 days, and 100% achieved it within 1 year. Nurse-led education-based care and a lower initial Graf stage of the left hip were significantly associated with a shorter time to hip normalization. Furthermore, a combination of nurse-led education-based care and Pavlik harness treatment was associated with ultrasonographic normalization. Conclusions Recovery from DDH is determined by multiple clinical and care-related factors. Nurse-led education-based care may serve as a complementary component of DDH management. Notably, it is a supportive strategy that complements, rather than replaces, conventional Pavlik harness treatment.
BACKGROUND:Prolonged preterm premature rupture of membranes (PPROM) may support fetal maturation but it also increases the risk of complications such as oligohydramnios. The aim of this study was to assess the effect of PPROM latency and oligohydramnios on neonatal outcomes in extremely preterm infants. METHODS:This study analyzed 940 infants born at < 28 weeks of gestation after PPROM using data from the Korean Neonatal Network. The infants were divided into two groups based on latency period: short (1-20 days, SP) and long latency (≥ 21 days, LP). Each group was further stratified by the presence of oligohydramnios, yielding four subgroups for analysis. RESULTS:Compared with the SP group, infants in the LP group had higher rates of oligohydramnios and neonatal complications, such as air-leak syndrome, early pulmonary hypertension, and necrotizing enterocolitis. Mortality was significantly higher in the LP group (32.3%) than in the SP group (20.1%) (P < 0.001). Subgroup analysis revealed that only the LP with oligohydramnios group had significantly higher mortality than all the other subgroups, regardless of gestational age at birth. CONCLUSION:Prolonged latency (≥ 21 days) combined with oligohydramnios significantly increases mortality risk in extremely preterm infants, highlighting the need for individualized management strategies that consider both latency period and oligohydramnios.
OBJECTIVE:Neonatal hypoxic-ischemic brain damage (HIBD) is a leading cause of acute mortality and long-term neurological impairment in newborns. Previous studies indicate that hypoxia-ischemia induces aberrant elevation of amyloid-beta (Aβ)1-42, which exacerbates neuronal injury through oxidative stress. However, the mechanistic link between Aβ1-42 and oxidative stress-mediated apoptosis in HIBD remains unclear. This study aimed to elucidate the role of Aβ1-42 in oxidative stress-induced neuronal damage during HIBD and explore the therapeutic potential of targeting β-secretase 1(BACE1). METHODS:In vivo, a neonatal HIBD model was established in 10-day-old Sprague-Dawley rats via right common carotid artery ligation followed by 2.5 h of hypoxia (8% O2/92% N2). In vitro, primary cortical neurons isolated from embryonic day 16-18 rats were subjected to oxygen-glucose deprivation/reperfusion (OGD/R). The BACE1 inhibitor AZD3293 (30 mg/kg, oral gavage) was administered immediately post-injury. Aβ1-42 levels were quantified by ELISA, while BACE1, BCL-2, and cleaved caspase-3 expression were analyzed via Western blot. Cellular viability was assessed using the MTT assay, and oxidative stress markers (SOD activity, MDA, and ROS levels) were measured using colorimetric/fluorometric kits. RESULTS:In vivo: Aβ1-42 levels peaked at 8 h post-HIBD. Administration of the BACE1 inhibitor significantly reduced Aβ1-42, BACE1, and cleaved caspase-3 levels compared to the HIBD 8 h group. Conversely, BCL-2 expression was upregulated. IN VITRO:Aβ1-42 accumulation peaked at 8 h post-OGD/R, paralleled by increased BACE1 expression at 24 h, elevated cleaved caspase-3 at 8 h, and reduced BCL-2 at 8 h. OGD/R induced time-dependent declines in cell viability, SOD activity, and increases in MDA and ROS. BACE1 inhibition mitigated these oxidative stress markers and apoptosis. CONCLUSION:Hypoxic-ischemic injury upregulates BACE1, inducing Aβ1-42 overproduction. This exacerbates oxidative stress in HIBD, establishing a feed-forward loop that culminates in neuronal apoptosis.
BACKGROUND:Prematurity implies an immature digestive system, with a risk of serious digestive complications. An instrument to assess the abdominal status of preterm infants is necessary. AIM:To develop and validate a scale (ECAP scale: Evaluation Clinique de l'état Abdominal du Prématuré) to objectively assess the abdominal status of preterm infant. METHODS:In a prospective monocentric study, newborns between 24 and 37 weeks of gestational age were assessed by ECAP scale. It was created by a multidisciplinary team and is based on the clinical examination of the newborns and contains 10 items, each rated from 0 to 2. The following psychometrics properties were studied: acceptability and content validity (CVI), internal consistency (Cronbach's α), inter-rater reliability (intraclass correlation coefficients ICC), internal structure validity (inter-item Spearman correlation) and external structure validity (clinical data). RESULTS:From April to July 2023, a total of 120 newborns were included and 1935 evaluations with ECAP scale were performed. Acceptability and content validity were good with full data completed and CVI of 0.83 [0.49; 1]. Cronbach's alpha coefficient was 0.73. Test-retest reliability was excellent with an overall ICC of 0.97 [0.962; 0.971]. Internal and external structures were validated and sensitivity to change was significant. CONCLUSION:This study proposes the first scale to assess the abdominal status of preterm infants, which is validated, reliable, as well as being quick and easy to use by the multidisciplinary team caring for preterms. This could be used to evaluate and monitor abdominal status of preterms, allowing rapid detection of digestive degradation.
BACKGROUND:Punctate white matter lesions (PWML) are increasingly recognized in preterm infants through magnetic resonance imaging (MRI), yet their clinical significance remains controversial. This study aimed to investigate whether isolated PWMLs in extremely preterm infants are associated with specific perinatal or postnatal risk factors and to evaluate their relationship with early neurodevelopmental outcomes. METHODS:This retrospective cohort study was conducted at Seoul National University Bundang Hospital from January 2013 to December 2023. We included infants born at <28 weeks gestational age (GA) or with birth weight <1000 g who underwent brain MRI at term equivalent age (40 ± 2 weeks postmenstrual age). Infants with grade III-IV intraventricular hemorrhage (IVH), cystic periventricular leukomalacia (cPVL), or other major brain anomalies were excluded. Neurodevelopmental assessments were performed at 6, 18-24 months of corrected age (CA) and 33-40 months of age using standardized tools, including the Bayley Scales of Infant Development and the Korean Developmental Screening Test. RESULTS:Among 189 eligible infants, PWMLs were identified in 16 (8.5%), and 173 (91.5%) had normal MRI findings. There were no significant differences in GA, birth weight, perinatal factors, or neonatal morbidities between groups. Of the 14 infants with PWMLs who completed neurodevelopmental follow-up (87.5% follow-up rate), 2 (14.3%) showed mild motor impairment at 6 months CA, which normalized by 18 months CA. No infants demonstrated severe neurodevelopmental impairment during the follow-up period. CONCLUSIONS:Isolated PWMLs in extremely preterm infants were not associated with specific risk factors or adverse early neurodevelopmental outcomes in this cohort.
BACKGROUND:Late preterm infants (34-36 weeks' gestation) are frequently perceived as clinically stable despite physiological immaturity that predisposes them to hypoglycemia. Evidence focused specifically on this population remains limited. This study aimed to determine the incidence, risk factors, and timing of hypoglycemia in late preterm infants. METHODS:We retrospectively analyzed 584 late preterm infants admitted between 2021 and 2024. Maternal and neonatal variables, including birth weight classification and timing of glucose measurements, were evaluated. Hypoglycemia was defined as blood glucose <45 mg/dL within the first 48 h after birth. Independent risk factors were identified using multivariable logistic regression. RESULTS:Among 584 late preterm infants, hypoglycemia occurred in 134 (22.9%). Incidence differed significantly by birth weight classification (p = 0.004). Small for gestational age (SGA) status was the strongest independent predictor (adjusted odds ratio 2.44, 95% confidence interval 1.22-4.98, p = 0.011). Most hypoglycemic episodes developed early, with the majority occurring within 6 h after birth, particularly among SGA infants. CONCLUSION:Hypoglycemia is common and occurs predominantly during the early postnatal period in late preterm infants, especially those born SGA. These findings support early and targeted glucose surveillance to facilitate timely detection and management.
OBJECTIVE:To assess whether deferred cord clamping (DCC) is associated with reduced death and/or severe brain injury compared to early cord clamping (ECC) in very and extremely preterm monochorionic-diamniotic (MCDA) twins. STUDY DESIGN:This multicenter retrospective cohort study included liveborn MCDA twins born under 32 weeks of gestation and admitted to any tertiary-level neonatal intensive care unit (NICU) participating in the Canadian Neonatal Network (CNN) in Canada between 2018 and 2023. We compared DCC ≥30s to ECC<30s. The primary composite outcome was death before discharge and/or severe brain injury (intraventricular hemorrhage ≥ grade III and/or cystic periventricular leukomalacia). Secondary outcomes included neonatal morbidities and interventions. Adjusted odds ratios (aORs) for categorical variables and ratio of means for continuous variables were estimated with 95% confidence intervals (CIs). Generalized estimating equation (GEE) models accounted for the correlation between twins. RESULTS:Approximately 42% of first-born and 54% of second-born MCDA twins received DCC. The primary composite outcome of death and/or severe brain injury occurred in 10% (48/488) of twins who received DCC and 16% (82/529) of those who received ECC (aOR 0.93; 95% CI 0.60-1.45). Among secondary outcomes, there were no significant differences in neonatal morbidities or interventions, except for a significant reduction in red blood cell transfusions, with 24% (115/488) of twins in the DCC group receiving at least one transfusion versus 43% (229/529) in the ECC group (aOR 0.46; 95% CI 0.33-0.66). CONCLUSIONS:Among MCDA twins born at < 32 gestational weeks, DCC did not impact the risk of death and/or severe brain injury compared to ECC but it was associated with decreased need for transfusions.
BACKGROUND:In East Asia, incense burning for religious and ceremonial purposes is a long-standing cultural practice. However, incense combustion generates particulate matter and toxic pollutants that may adversely affect maternal and fetal health. Associations between maternal incense exposure and pre-eclampsia, adverse neurodevelopmental outcomes, and impaired fetal growth are noted. Evidence regarding the association between household incense burning and small for gestational age (SGA), particularly according to gestational-age strata, remains limited. METHODS:We analyzed data from 18,666 mother-infant pairs enrolled in the Taiwan Birth Cohort Study with follow-up at 6 months postpartum. Household incense-burning exposure during pregnancy was categorized as none, occasional, or daily. Multivariable logistic regression models were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) for SGA, stratified by term and preterm births. Multiple sensitivity analyses were conducted to assess the robustness of the findings, including adjustments for additional indoor environmental factors, maternal medical history, gestational complications, gestational weight gain, and evaluation of interactions with secondhand-smoke exposure. RESULTS:Overall, 583 (8.1%) SGA infants were identified in the non-exposure group (n = 7242), 415 (9.4%) in the occasional-exposure group (n = 4413), and 700 (10.0%) in the daily exposure group (n = 7011). Among term infants, household incense burning was significantly associated with SGA, with aORs of 1.16 (95%CI: 1.00-1.33) for occasional exposure and 1.25 (95%CI: 1.10-1.41) for daily exposure, demonstrating a dose-response relationship. Similar, but nonsignificant, patterns were observed among preterm infants. No significant association was found between household incense burning and preterm birth. CONCLUSION:In this large population-based cohort, maternal exposure to household incense burning during pregnancy was associated with increased risk of delivering an SGA infant, particularly among term births. The risk was higher for daily than for occasional exposure. These findings highlight the potential public health implications of household incense use during pregnancy.
Wilms’ tumor (WT) is the most common primary renal malignancy in children and it is a paradigmatic developmental kidney tumor arising from disrupted nephrogenesis. Classically framed as a developmental disorder of the nephron progenitor compartment, WT also exhibits clinically relevant endocrine features, most notably renin-mediated hypertension and, less commonly, selected paraneoplastic syndromes including Cushing syndrome, erythrocytosis, hypercalcemia, and acquired von Willebrand disease. Biochemically, atypical elevations of α-fetoprotein (AFP) and β-human chorionic gonadotropin (β-HCG) may complicate the differential diagnosis of pediatric renal and retroperitoneal masses. At the molecular level, hormone-linked pathways—including the insulin-like growth factor (IGF) axis, vascular endothelial growth factor (VEGF), transforming growth factor-β (TGF-β)/Smad signaling, the renin-angiotensin system (RAS) and the WT1-centered gonadal-adrenal axis—converge on core processes that drive WT growth, angiogenesis, epithelial-mesenchymal transition (EMT) and microenvironmental remodeling. These pathways intersect with a heterogeneous genetic and epigenetic landscape dominated by alterations in WT1, 11p15/WT2, SIX1/2, WDR4 and dysregulated non-coding RNAs. In this narrative review, we first outline the clinical and diagnostic landscape of WT, and then summarize endocrine and paraneoplastic manifestations. We next dissect the main hormone-related signaling pathways and their genetic underpinnings, and discuss how these insights may inform risk stratification, supportive management, and future therapy, ranging from blood pressure control with RAS blockade to limited anti-VEGF exploration and more speculative IGF-axis and TGF-β-targeted interventions. Clinically, the endocrine interface of WT is narrow but important: renin-mediated hypertension and selected diagnostic dilemmas are directly actionable, whereas rare paraneoplastic syndromes are mainly case-based observations and most endocrine-related therapeutic pathways remain investigational. This evidence-stratified perspective may help align developmental biology with practical clinical decision-making.
