Pediatrics and Neonatology最新文献

Background

The objectives were to evaluate the descriptive features of newborns with a diagnosis of Rhesus (Rh) hemolytic disease, to determine the morbidity and mortality rates, to evaluate the treatment methods and the factors affecting treatment requirements and clinical outcomes during a ten-year period at a tertiary center.

Methods

Newborn infants who had a positive direct Coombs test and/or had a history of intrauterine transfusion (IUT) due to Rh hemolytic disease were included. The data regarding the prenatal, natal and postnatal periods were collected from hospital records.

Results

A total of 260 neonates were included of which 51.2% were female. The mean ± standard deviation gestational age was 36.9 ± 2.7 weeks. The rate of preterm birth was 41.2%. Of 257 mothers whose obstetric medical history could be accessed, 87.2% were multigravida, whereas 76.3% were multiparous. Among mothers who had a reliable history of anti-D immunoglobulin prophylaxis (n=191), 51.3% had not received anti-D immunoglobulin prophylaxis in their previous pregnancies. The antenatal transfusion rate was 31.7% and the frequency of hydrops fetalis was 8.8%. While combined exchange transfusion (ET) and phototherapy (PT) was performed in 15.4% of the babies, the majority either needed phototherapy only (51.1%) or no treatment (33.5%). The mortality rate was 3.8 % (n = 10), and nine babies out of these 10 were those with severe hydrops fetalis.

Conclusion

This study showed that Rh hemolytic disease is still a major problem in developing countries. Multiple comorbidities may occur in addition to life threatening complications, including hydrops fetalis, anemia and severe hyperbilirubinemia. High rates of multiparity and low rates of anti-D immunoglobulin prophylaxis are potential barriers for the eradication of the disease. It should be remembered that Rh hemolytic disease is a preventable disease in the presence of appropriate antenatal follow-up and care facilities.

Background

Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID.

Methods

We conducted a retrospective analysis of WES results of children under 19 years of age with unexplained DD/ID between January 2020 and December 2021. The demographic data of all patients and variants identified through WES were evaluated. Furthermore, we evaluated the clinical characteristics that influenced the identification of genetic causes.

Results

Forty-one patients with DD/ID were included, of whom 21 (51.2 %) were male. The average age at symptom onset was 1.6 ± 1.3 years, and the duration from symptom onset to diagnosis was 3.1 ± 3.7 years. Hypotonia was the most common symptom (17 patients, 41.5 %), and epilepsy was confirmed in 10 patients (24.4 %). Twenty-two pathogenic/likely pathogenic variants were identified in 20 patients, and three variants of uncertain significance were identified in three patients. Family-based trio Sanger sequencing for candidate variants of 12 families was conducted; 10 variants were de novo, one variant paternally inherited, and two variants compound heterozygous. The diagnostic yield of WES for DD/ID was 48.8 % and was significantly high in patients with an early onset of DD/ID and facial dysmorphism. In contrast, patients with autism spectrum disorder (ASD) were more likely to have negative WES results compared with others without ASD.

Conclusion

The diagnostic yield of WES was 48.8 %. We conclude that patients’ characteristics, such as dysmorphic features and the age of symptom onset, can predict the likelihood that WES will identify a causal variant of a phenotype.

Background

A significant rise in the use of assisted reproductive technology (ART) has been observed, but concerns about its impact on neonatal outcomes have been considered. The aim of this retrospective cohort study is to determine the association between ART and the risk of neonatal complications and congenital anomalies within a recent time period.

Methods

This retrospective study enrolled infants born after 20 weeks of gestation at a tertiary hospital in Taiwan between January 2019 and December 2021. The study population was divided into two groups: (1) ART pregnancy group and (2) natural pregnancy group. Maternal and neonatal characteristics, pregnancy complications, and neonatal outcomes were compared between the two groups. Multivariate logistic regression was used to adjust for maternal characteristics, preexisting maternal conditions, pregnancy complications, delivery methods, and infant characteristics.

Results

This study enrolled 1770 infants comprising 289 in the ART pregnancy group and 1481 in the natural pregnancy group. The ART pregnancy group showed higher rates of multiple births, preterm births, low birth weights, and longer hospitalization periods. In the stratified analyses that were conducted on singleton births, no significant difference was observed. In the case of multiple births, lower rates of preterm birth, low birth weight, and respiratory support were observed in the ART pregnancy group. After adjusting for maternal and infant characteristics, ART was not considered a significant risk factor for adverse neonatal outcomes, including mortality, complications, and congenital anomalies.

Conclusion

Although ART pregnancies were more likely to result in multiple births and furthermore adverse outcomes, ART itself was not associated with an increased risk of poor neonatal outcomes. By implementing measures to control the number of implanted embryos, ensuring appropriate prenatal screening, and providing comprehensive postnatal care, the risks associated with increased multiple pregnancies caused by ART may be reduced.

With the increasing prevalence of obesity, childhood type 2 diabetes (T2D) is a growing concern in Taiwan. Unlike its adult counterpart, T2D in children exhibits a more aggressive nature and earlier onset of complications. Metformin represents the first line of drug, but if blood sugar levels do not improve, other drugs are used. This retrospective cohort study endeavors to scrutinize and assess the pattern of treatment modification and associate factors among 79 young people with T2D in Taiwan.

The study categorized participants into three distinct groups based on their treatment trajectory and outcomes: (1) those maintaining metformin (n = 34); (2) cases achieving remission (n = 7); and (3) individuals experiencing escalation through oral drugs or insulin (n = 38). The average follow-up period spanned 3.48 years. Findings from univariate analysis using a Cox proportional hazards model and propensity score weighting revealed that HbA1c and weight gain correlated with elevated risk of treatment escalation. Conversely, factors such as hypertension, high weight or body mass index (BMI) SDS, leptin levels, c-peptide concentrations, peak c-peptide values during glucagon stimulation test and LDL-cholesterol levels were associated with reduced risk of escalation. However, in multivariate analyses employing stepwise selection, the sole predictive factor for treatment escalation emerged as weight gain one year post-therapy (HR: 1.06, p < 0.001).

This study underscores the interconnectedness between weight management and the trajectory toward either treatment escalation or disease remission. Furthermore, it highlights the cost-effective potential of intervening in younger populations. Ultimately, these insights accentuate the considerable opportunity for enhancing health care management strategies concerning pediatric T2D in Taiwan.

Objective

To study the relationship between umbilical cord blood vitamin A (VA) and neonatal lung diseases and explore the impact of umbilical cord blood VA on neonatal lung diseases.

Method

Umbilical vein blood was collected at birth, and its VA content was measured. According to the VA levels in umbilical cord blood, a VA deficiency (VAD) group, a marginal deficiency group and a normal group were created and followed up until 28 days after birth.

Results

The umbilical cord blood VA level in the neonatal group with lung disease was 0.13 ± 0.05 mg/L, while the result for the VA level in the non-lung disease group was 0.15 ± 0.05 mg/L. The umbilical cord blood VA levels in the neonatal lung disease group were significantly lower than those in the non-lung disease group. The incidence of neonatal pulmonary diseases was highest in the VAD group, and the incidence decreased as the level of VA in umbilical cord blood increased. Umbilical cord blood VAD and premature birth were found to be independent risk factors for neonatal respiratory disease.

Conclusion

Umbilical cord blood VAD and premature birth are independent risk factors for neonatal pulmonary diseases. The lower the level of VA in umbilical cord blood, the more susceptible infants will be to neonatal respiratory infections in the neonatal period.

Background

Globally, an estimated 36.9 million (31.1–43.9 million) people were living with HIV in 2017, of whom 17.8 million were women and 1.8 million (1.3–2.4 million) children under 15 years of age. Ethiopia has developed an HIV/AIDS prevention, care, and treatment strategic plan in an investment case approach that has been implemented from 2015 to 2020. The study aim was to assess the outcome and risk factors for HIV-exposed infants receiving Prevention of Mother to Child Transmission (PMTCT) follow-up.

Method

A cross-sectional retrospective study was done. All HIV-exposed infants who were on follow-up in the ART and (PMTCT) clinics of St Paul’s Hospital Millennium Medical College, Yekatit 12 Hospital Medical College, and Selam Health Center beginning from September 2016 to January 2019 were included. Data collection was done using a well-designed questionnaire and a review of mothers’ and infants’ medical record charts and HMIS log book. Descriptive and logistic regression analysis was performed to assess the association between dependent and independent variables. Differences are considered statistically significant at p < 0.05, and their strength is presented using an odds ratio and 95% confidence interval.

Result

Among the 302 enrolled HIV-exposed infants, 27 (8.9%) were diagnosed as HIV positive. Maternal ART initiation during labor and delivery (AOR = 3.468, 95% CI: 1.22, 13.34, p = 0.04), frequent hospital admission of the infant (AOR = 17.49, 95% CI: 5.41, 56.2, p = 0.001), and mixed feeding option (AOR = 8.25, 95% CI: 2.212, 30.77, p = 0.02) were the major factors associated with positive HIV serostatus among HIV-exposed infants.

Conclusion

and Recommendation: The level of HIV infection among infants born to HIV-positive mothers is high as compared to the national and WHO goals. Exclusive breastfeeding should be advocated for all HIV-exposed infants, especially in resource-limited settings like Ethiopia due to the increased prevalence of diarrheal illness.