BMC Pediatrics最新文献

Background: Epilepsy is a common neurological disorder that significantly impacts children's development, behavior, and quality of life. In low-resource settings, treatment outcomes remain suboptimal, with more than one-third of children experiencing treatment failure.

Objectives: This study assessed treatment outcomes and associated factors among children with epilepsy attending the pediatric follow-up clinic at Hiwot Fana Comprehensive Specialized Hospital in Eastern Ethiopia.

Methodology: A hospital-based cross-sectional study was conducted from November 5, 2020, to February 5, 2021, involving 140 children aged 6 months to 18 years who had been on antiepileptic drugs for at least six months. Data was collected through structured caregiver interviews and medical record reviews. Seizure control was categorized as good (seizure-free for at least six months) or poor (persistent seizures despite appropriate AED use). Adherence was measured using the Morisky 8-Item Medication Adherence Scale. Multivariable logistic regression was used to identify factors associated with treatment outcomes.

Result: Among the 140 participants, 59.3% had poor seizure control. Generalized seizures were the most common type (65.7%), and 78.6% were on monotherapy, with phenytoin being the most prescribed AED. Poor adherence to AEDs was observed in 46.4% of patients. In the adjusted analysis, seizure frequency greater than one per week before AED initiation (AOR = 11.036; 95% CI: 3.616-33.677; p < 0.001) and poor adherence to AEDs (AOR = 4.917; 95% CI: 2.452-9.861; p < 0.001) were significantly associated with poor treatment outcomes.

Conclusion: Nearly six in ten children had poor seizure control. High pre-treatment seizure frequency and poor adherence to medication were the main factors associated with poor outcomes. Interventions to promote early diagnosis and improve adherence through caregiver education and health system support are critical to improving epilepsy management in children.

Background: Atopic diseases, including asthma, atopic dermatitis (AD), allergic rhinitis (AR), and food allergy, are significant chronic conditions in the pediatric population. Prematurity and small-for-gestational-age (SGA) status are critical factors influencing long-term health outcomes. This study investigated the associations between prematurity, SGA, and the development of atopic diseases in children using a nationwide longitudinal cohort.

Methods: We analyzed data from Taiwan's National Health Insurance Research Database (NHIRD), which includes nearly all residents. The cohort comprised infants born between January 1, 2004, and December 31, 2019, excluding those with early death and multiple births. Premature or SGA infants were designated as study cases, while term, appropriate-for-gestational-age (AGA) infants served as controls. Kaplan-Meier analysis estimated cumulative incidence, and log-rank tests compared disease risk across groups. Cox proportional hazards models, adjusted for demographics, pregnancy-related factors, socioeconomic status, and urbanization, were used to calculate hazard ratios (HRs) with 95% confidence intervals (CIs).

Results: A total of 1,758,460 infants (914,713 males; 843,747 females) were included. Prematurity was associated with increased risks of AR (HR, 1.03) and asthma (HR, 1.19 in males; HR, 1.17 in females) but a lower risk of AD (HR, 0.94 in males; HR, 0.95 in females) in the AGA group. SGA was not associated with atopic diseases in term infants.

Conclusion: Prematurity was linked to higher risks of asthma and AR and a lower risk of AD, while SGA status showed no association with atopic diseases in term infants. Further studies are needed to clarify underlying mechanisms and assess causality.

This study assessed bisphenol exposure in preterm infants (born before 35 weeks of gestation) hospitalized in a neonatal intensive care unit (NICU), along with associated prenatal exposure. Fifty-eight infants and 48 mothers were included. Bisphenol A (BPA) and bisphenol F (BPF) levels were measured in maternal urine, cord blood, and infant urine samples using high-performance liquid chromatography (HPLC). There was a significant negative association between maternal urine BPF (MuBPF) and the newborn's birth weight percentile. A significant positive correlation was found between the BPA levels of the infant's urine taken on the first day (NuBPA1) and the second sample taken on the last day (NuBPA2) in the NICU. There was a significant negative association between tertile levels of cord BPA (cBPA) and stretched penile length (SPL). NuBPF1 levels in the first-born babies were significantly higher compared to the later-borns. Detectable NuBPF1 levels and decreased NuBPF2 compared to NuBPF1 levels were observed more frequently in males. Cord BPA (cBPA) and BPF (cBPF) levels did not significantly correlate with maternal or infant urinary levels. No association was found between NICU procedures and BPA or BPF exposure levels. The absence of significant associations between neonatal urine BPA levels and both maternal urine and cord blood BPA, as well as NICU procedures, suggests that newborns may be exposed to these chemicals through other, unpredictable sources that were not captured in this study. The study highlights the need to minimize BPA and BPF exposure, especially during pregnancy and NICU stays, to protect fetal health and prevent future issues.

Background: Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics. However, in rare cases, patients may exhibit atypical features such as spontaneous breast development and menstruation.

Case presentation: This report details the case of a 13.5-year-old female with a 46, XY karyotype, fully developed secondary sexual characteristics, and unilateral gonadoblastoma. The primary clinical symptoms included generalized hirsutism and secondary amenorrhea, occurring ten months after experiencing two menstrual periods. Physical examination revealed a phenotypic female of normal height with apparently normal external genitalia but clitoromegaly. Breast and pubic hair development were at Tanner stage five. Noteworthy features included generalized hirsutism and a deep voice. Initial laboratory investigations showed follicle-stimulating hormone (FSH) at 0.39 mIU/mL, luteinizing hormone (LH) at 0.43 mIU/mL, testosterone at 1.96 ng/mL, and estradiol at 79.54 pg/mL. An abdominal computed tomography (CT) scan detected a 12 × 10 × 10.5 cm calcified mass on the left side of the pelvis, originating from the ovaries. Surgical excision of the mass, along with a left salpingo-oophorectomy, was performed. Histopathology confirmed the mass as a gonadoblastoma. Chromosomal analysis confirmed the diagnosis of XY pure gonadal dysgenesis (Swyer syndrome).

Conclusion: This case highlights the importance of comprehensive genetic testing in females presenting with amenorrhea despite fully developed secondary sexual characteristics.

Background: Human Immunodeficiency Virus (HIV) is a significant public health concern globally, particularly among vulnerable populations such as infants. Mother-to-child transmission (MTCT) of HIV contributes significantly to infant and child HIV-related mortality. In Uganda, up to 3200 children aged 0 to 14 years die due to HIV-related causes annually, which is highly concentrated in areas heavily affected by HIV, like Lira city. Therefore, this study aimed to find out the prevalence of seroconversion and its associated factors among HIV exposed infants receiving care at Lira Regional Referral Hospital in Lira City, northern Uganda.

Methods: A cross-sectional study design which used a retrospective approach. 217 patient files of infants under 18 months at the Early Infant Diagnosis Clinic of Lira Regional Referral Hospital from February 2021 to February 2024 were systematically selected. Quantitative methods of data collection using a standardized data extraction form were used. Data were analyzed using SPSS version 27 to obtain results. Bivariable and multivariable logistic regression analysis was done considering the p-values of 0.2 and 0.05 respectively as levels of statistical significance and data was presented in form of tables and pie-chart.

Results: There were 217 case records reviewed and the results showed that; The seroconversion rate among exposed infants was 7.3% (16/217), and several factors including infants' sex (aOR 36.177; 95%CI:(1.747-749.045), P = 0.020), Infant's nutrition status (aOR 437.186; 95%CI: (5.248-36,422.893), P = 0.007), Infants' mode of feeding (aOR 10.565; 95%CI: (1.171-96.990), P = 0.036) and Maternal viral load suppression status during lactation (aOR 27.971; 95%CI:(1.049-745.899), P = 0.047) were found to be significantly associated with seroconversion.

Conclusion: The seroconversion rates among exposed infants in Lira City are higher than the national estimate of 6.9%. Even now that there has been reduced support towards HIV/AIDs services, stakeholders including midwives, the ministry of health and local leaders should align efforts on strengthening appropriate infant feeding counseling, timely ART initiation for newly tested mothers and adherence counselling for unsuppressed mothers and continuously monitoring PMTCT programs.

Background: While there are studies evaluating the eating behaviors of children with cerebral palsy (CP) and the eating attitudes of mothers, studies on eating behaviors and mothers' eating attitudes in children with CP with cerebral visual impairment (CVI) according to visual function level are in their infancy. Based on this, the aim of this study was to compare eating behaviors and mothers' eating attitudes according to the level of visual function in children with CP and CVI.

Methods: A total of 90 children with CP and CVI aged 36-72 months, consisting of 30 level 2, 30 level 3 and 30 level 4 according to the visual function classification system (VFCS) and their mothers participated in the study. Eating behaviors of children with CP and CVI were assessed with the Children's Eating Behavior Questionnaire (CEBQ) and mothers' eating attitudes towards the feeding process of their children were assessed with The Mother's Attitudes Towards the Feeding Process Scale (MAFPS).

Results: According to the results of the study, statistically significant differences were found among the three groups in all subdomains of the CEBQ-except for the emotional overeating subdomain-and in all subdomains and the total score of the MAFPS (p < 0.001). There was no statistically significant difference between the groups in the emotional overeating sub-field of CEBQ (p = 0.184). In the post hoc analysis, a statistically significant difference was found in all assessment areas except the emotional overeating area in the pairwise comparisons of the groups (p < 0.05).

Conclusion: In the study in which eating behaviors of children diagnosed with CP and CVI and eating attitudes of mothers were evaluated according to VFCS levels, it was determined that children at level 4 and their mothers exhibited a more negative picture compared to level 3, and children at level 3 and their mothers exhibited a more negative picture compared to level 2. Worsening vision was found to be a factor that negatively affected the eating behaviors of children with CP and CVI and the mothers' attitudes towards eating. The eating behaviors of children with CP and CVI and the eating attitudes of mothers should be included in routine assessments and intervention approaches that include mothers in this process should be planned.

Foreign body aspiration (FBA) is a critical pediatric emergency that poses significant health risks, particularly in children under 7 years old. This cross-sectional observational study aimed to evaluate the knowledge of caregivers in Poland regarding FBA risks, symptom recognition, prevention strategies, and first aid measures. A total of 333 caregivers completed a 23-item questionnaire assessing socio-demographic characteristics and knowledge of FBA and choking management. Associations between demographic variables and knowledge scores were analyzed using multivariable negative-binomial regression. The mean accuracy across all knowledge questions was 80.48%, with the highest proportion of incorrect answers related to recognizing effective and ineffective cough and appropriate actions for infants with ineffective cough. Formal medical education and first aid training were the strongest predictors of higher knowledge scores, increasing the expected number of correct answers by 19-30% and 9-18%, respectively. General education level was not significantly associated with knowledge. Despite generally good overall knowledge, substantial deficits were observed in recognizing and managing time-sensitive choking scenarios. The results highlight the need for targeted, pediatric-specific first aid programs integrated into prenatal, educational, and community health systems to enhance caregivers' ability to promptly recognize and respond to choking emergencies in young children.

Background: Fabry disease, an X-linked lysosomal storage disorder, is associated with significant multisystem involvement, including small fiber neuropathy. While neuropathic pain is well-documented in females with Fabry disease, the objective confirmation of small fiber dysfunction in pediatric heterozygotes remains underreported. This study highlights the role of quantitative sensory testing (QST) in diagnosing small fiber neuropathy in young female patients.

Case report: We present twin sisters, heterozygous for a pathogenic GLA variant (c.298 A > T), who exhibited symptoms of small fiber neuropathy, including acroparesthesia and gastrointestinal dysfunction. QST revealed altered thermoalgesic and vibratory thresholds in one twin and isolated vibratory hyposensitivity in the other, supporting the diagnosis of small fiber neuropathy.

Discussion: These cases highlight the diagnostic challenge of Fabry disease, as neuropathic symptoms may be overlooked or attributed to other conditions in pediatric patients. The findings emphasize the need for early identification of small fiber dysfunction in heterozygous females, who are increasingly recognized as being clinically affected. The complex alterations in sensory processing reinforce the importance of integrating QST as an objective assessment tool for small fiber function in Fabry disease.

Conclusions: Small fiber neuropathy is an early and clinically relevant manifestation of Fabry disease in pediatric heterozygotes. Early recognition and intervention, including enzyme replacement therapy (ERT), are essential to mitigating disease progression and improving clinical outcomes. These cases underscore the utility of QST in confirming small fiber neuropathy and highlight its potential role in the early diagnosis and monitoring of Fabry-related neuropathy in pediatric patients.