Pediatrics and Neonatology最新文献

Background: Beginning in April 2022, a rapid surge in the Omicron variant of severe acute respiratory syndrome coronavirus 2 occurred throughout Taiwan. During this period, infected children might present with neurological complications of varying severity. We aimed to investigate the neurological complications in pediatric patients with coronavirus disease 2019 (COVID-19).

Methods: This single-center study analyzed the clinical and laboratory data of pediatric patients with COVID-19 who were admitted to a tertiary hospital in Taiwan between May 2022 and October 2023. COVID-19 was diagnosed via rapid antigen and real-time polymerase chain reaction testing.

Results: In total, 160 patients with COVID-19 were enrolled (women: 45.6 %, n = 73; average age, 4.10 ± 4.07 years). Among them, 21.3 % (n = 34) had neurological findings and 78.8 % (n = 126) did not. The most common neurological symptoms were altered awareness (28/34, 82.4 %) and seizures (26/34, 76.5 %), and 12 patients (35.3 %) presented with intracranial hypertension. Neurological manifestations were prevalent in preschool-aged children (1-5 years). Fever was highly prevalent in all patients and was seen in 100 % of those with neurological symptoms. Higher serum procalcitonin levels, absolute neutrophil counts, and lower platelet counts were observed in pediatric patients with COVID-19 and neurological symptoms.

Conclusions: Recognizing the severe neurological manifestations of COVID-19 is essential for optimal patient management. Elevated serum procalcitonin levels may be an early biomarker of neurological complications. Moreover, early identification of status epilepticus and intracranial hypertension during the disease's acute phase facilitates risk stratification for adverse outcomes. Thus, we provide a novel approach for predicting critical pediatric COVID-19 cases.

Aims: To analyze the development of the frontal cortical and subcortical areas in children with a history of prematurity and very low birthweight, and to evaluate its relationship with foetal growth restriction (FGR) and birthweight.

Methods: This cohort study was carried out in two stages: retrospectively, considering very low weight newborns born at our hospital between January 2008 and December 2016; and prospectively, performing a structural brain analysis using magnetic resonance imaging and a cognitive performance study using the Wechsler Intelligence Scale for Children, Fifth Edition (WISC-V).

Results: The study population consisted of 48 children with an average age of 110.7 months (95 % CI 102.6-118.8) with a history of prematurity and a birthweight of less than 1500g. Of these children, nine had suffered FGR. FGR is associated with a significantly smaller medial orbitofrontal cortex and a significantly larger anterior cingulate cortex. The surface area of the medial orbitofrontal cortex of both hemispheres is significantly associated with the scores obtained in the WISC-V test for verbal comprehension and visual-spatial index.

Conclusions: FGR and birthweight are both related to structural alterations in the frontal lobe. The surface area of the orbitofrontal cortex is strongly influenced by the weight at birth.

Background: Esophageal atresia (EA) is a rare malformation (∼1 in 2500-3000 live birth) typically involving a blind upper pouch and distal tracheoesophageal fistula (TEF) (≈86 % of cases). Atypical forms (such as duplications, vascular rings, or functional obstructions) lie outside standard classifications and they are very uncommon. These variants can confound diagnosis and require adapted strategies.

Methods: We retrospectively reviewed 43 EA cases (2018-2021) and identified three with atypical anatomic or functional presentations. Clinical, radiologic, and endoscopic findings were analyzed. Each case demanded a bespoke diagnostic and surgical plan.

Results: Case 1: A neonate with EA/TEF had a long esophageal duplication with an internal septum. The septum was divided and the esophagus anastomosed; although the repair was intact, the infant later died from aspiration pneumonia. Case 2: EA repair was complicated by a right aortic arch (≈6 % of EA/TEF patients). We tunneled the distal esophagus behind the arch for a thoracoscopic anastomosis. A mild stricture was dilated, and the infant tolerated full feeds. Case 3: Initial imaging suggested EA, but endoscopy showed a continuous but narrowed esophagus (likely a motility disorder). Tube feeding led to normalization by 1 month, avoiding surgery. Two infants survived with good feeding outcomes.

Conclusion: These cases (≈7 % of our EA cohort) illustrate that atypical EA variants require individualized management. Detailed imaging and endoscopy were critical to identify unusual anatomy. Tailored thoracoscopic techniques (such as septum resection and retro-arch anastomosis) restored continuity in two infants, while recognizing a motility obstruction in the third obviated surgery. Awareness of atypical anatomy is essential to improve outcomes.

The level of evidence: IV.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a severe systemic hyperinflammation with a high early death rate. The present study retrospectively reviewed the potential relationship between routine laboratory tests and early death in pediatric HLH patients.

Methods: Sixty-four pediatric HLH patients with complete routine laboratory test results and patient information data were divided into Group D (patients who died within two months of hospitalization) and Group S (patients who survived for more than two months or were ultimately discharged). Demographic characteristics and routine laboratory data were analyzed using the Wilcoxon test, LASSO regression, and logistic regression.

Results: Most patients in Group D were under the age of two. Univariate analysis showed that low red blood cell (RBC), low haemoglobin (Hb), low albumin (ALB), low fibrinogen (FIB), prolonged partially activated prothrombin time (APTT), and high lactate dehydrogenase (LDH) were associated with early death in pediatric HLH patients. Among these routine laboratory tests, ALB had the highest area under the curve (AUC). LASSO regression and logistic regression showed that ALB correlated with early death in pediatric HLH patients.

Conclusions: Our study highlights the importance of routine laboratory tests, especially ALB levels, in predicting early death in pediatric HLH patients. Under the age of 2, multi-organ or system involvement may increase the risk of early death.

Background: Infants with comorbidities and critical illnesses often exhibit symptoms resembling extra-esophageal reflux episodes, posing a challenge to differentiate from exacerbated underlying conditions. This study aimed to evaluate characteristics of equivocal gastroesophageal reflux (GER)-like symptoms using 24-h esophageal multichannel intraluminal impedance-pH (MII-pH) monitoring in infants with comorbidities.

Methods: This retrospective study enrolled 79 infants, who were all less than 1 year of age and received 24-h MII-pH monitoring. Abnormal result was defined as reflux index >10 %, total reflux episodes >100 times, and more than 44 acidic GER episodes or 57 non-acid ones.

Results: Among the infants, 64.6 % required intensive care, 41.8 % were under positive pressure ventilation and 73.4 % were fed with feeding tube. Approximately 70 percent of babies presented with extra-esophageal symptoms. Common comorbidities were as follows: prematurity (65.8 %), laryngomalacia (46.5 %), neurological impairment (40.5 %), and bronchopulmonary dysplasia (38.0 %). Abnormal results of MII-pH monitoring were observed in 39.2 % subjects, which were significantly higher in infants with esophageal symptoms, and characterized by higher total reflux as well as acidic reflux episodes. There were markedly lower weakly acidic reflux episodes in infants with neurological impairment and higher proximal reflux episodes in infants with laryngomalacia.

Conclusion: Despite higher prevalence of extra-esophageal presentations among all infants with comorbidities, abnormal rates of 24-h esophageal MII-pH monitoring were significantly lower compared with those of infants with esophageal presentations. Routine use of proton-pump inhibitor is not warranted for non-esophageal symptoms in high-risk infants with undocumented gastroesophageal reflux disease.

Objective: To report a novel VPS13B variant and to describe the prevalence of neutropenia and immunological clinical features in patients with Cohen syndrome (CS).

Study design: We conducted a comprehensive search focusing on CS and neutropenia using PubMed, Embase, Google Scholar and the Human Gene Mutation Database. The key words were "Cohen syndrome" AND "neutropenia," "VPS13B″ AND "neutropenia," "COH1" AND "neutropenia." Inclusion criteria required articles to be in English, to report a confirmed VPS13B variant (or the previously named COH1) and to provide information on clinical phenotypes.

Results: The literature review identified 54 reports that met the inclusion criteria. The majority of CS patients (226/293; 77.1 %) presented with neutropenia, with notable differences according to ethnicity. Caucasians had reduced neutrophil levels in 90.6 % of cases, whereas Arabs and Asians had reduced neutrophil levels in only 58.7 % and 47.1 % of cases, respectively. There was no clear genotype-phenotype correlation with regard to neutropenia. Although few serious infections were reported, oral mucosal involvement and its sequelae were common. Dysimmune phenomena were observed in seven cases. We also report the case of a seven-year-old Italian child with a novel compound heterozygosity in the VPS13B gene who was previously diagnosed with isolated autoimmune neutropenia.

Conclusions: Clinical, ethnic and immunological data suggest that neutropenia in CS may be part of a complex immune dysregulation. Further immunological studies may help in the early diagnosis and treatment of autoimmune and mucosal involvement to prevent potential complications.

Background: Turner syndrome (TS) is the most common sex chromosome aneuploidy and is associated with various comorbidities. Using data from the National Health Screening Program for Infants and Children (NHSPIC), we aimed to investigate the multisystem comorbidities and growth trajectories of patients with TS in South Korea.

Methods: A total of 1,647,140 female individuals born between 2007 and 2017 registered in the National Health Insurance Service were included in this study. Diagnoses of TS were based on the World Health Organization's International Classification of Diseases, Tenth Revision (ICD-10). Multisystem comorbidities were categorized into cardiovascular, endocrine, neurologic, and neurosensory disorders. The risk of comorbidities was investigated using a Cox proportional-hazards regression analysis. Each individual was observed until 2020.12.31. Growth measurements from 0 to 6 years were obtained from the NHSPIC and converted into Z-scores. Growth curves of children with TS from birth to age 6 were plotted using a locally estimated scatterplot smoothing function.

Results: Overall, 514 girls were diagnosed with TS. The incidence of TS was 1 per 3203 female live births over the observation period, with a median age at diagnosis of 7.6 years. Compared to the control group, the TS group had an elevated risk of various complications: congenital heart disease (CHD) (adjusted hazard ratio [aHR] 3.51; 95 % confidence interval [CI] 2.79-4.42), short stature (aHR 23.19; 95 % CI 20.99-25.61), and developmental delay (aHR 6.21; 95 % CI 4.65-8.29). Growth curves for girls with TS revealed growth impairments evident from birth.

Conclusion: Our nationwide study emphasizes the importance of early diagnosis by highlighting the risk of various early TS complications. Clinicians should recognize that TS may present with early growth deficiency and a broad spectrum of multisystem comorbidities, underscoring the importance of timely diagnosis and multidisciplinary management.

Background: Respiratory syncytial virus (RSV) is a major cause of infant hospitalizations, with limited prophylactic options historically available. Nirsevimab, a long-acting monoclonal antibody, has emerged as a promising agent for preventing RSV.

Objective: To evaluate the efficacy and safety of nirsevimab through a systematic review and meta-analysis of randomized controlled trials (RCTs) and investigate current global recommendations.

Methods: Databases, including PubMed, Embase, and Cochrane CENTRAL, were searched from inception to January 31, 2025. Eligible RCTs assessing nirsevimab efficacy in RSV prevention were included. Outcomes encompassed RSV-related hospitalization, severe infection, and adverse events. Meta-analysis employed random-effects models.

Results: Six RCTs (n = 12,086) were included. Nirsevimab significantly reduced RSV-related hospitalization (odds ratio [OR], 0.19; 95 % confidence interval [CI], 0.13-0.30) and severe RSV infection (OR, 0.23; 95 % CI, 0.12-0.44), with no increase in adverse events. Country-specific recommendations varied, ranging from seasonal to year-round strategies.

Conclusion: Nirsevimab exhibits excellent efficacy and safety in RSV prevention. Although most countries align administration with RSV seasonality, Taiwan distinctively endorses year-round prophylaxis. Customized immunization policies considering local epidemiology and seasonality may optimize protection and inform global RSV prevention strategies.