中国当代儿科杂志最新文献

A 26-day-old male infant presented with recurrent convulsions from 18 days of life. Laboratory investigations revealed severe hypomagnesemia (0.07 mmol/L) and hypocalcemia (1.65 mmol/L). Whole-exome sequencing was performed and identified compound heterozygous pathogenic variants in the TRPM6 gene, comprising c.5616G>A (p.Trp1872Ter) and a deletion of exons 20-23. The c.5616G>A variant was inherited from the father, and the exon 20-23 deletion was inherited from the mother; neither variant has been previously reported. Based on these findings, the diagnosis of primary hypomagnesemia with secondary hypocalcemia was confirmed. Oral magnesium sulfate supplementation was initiated, and no further convulsions occurred. At the 8-year follow-up, the patient exhibited persistent hypomagnesemia without other abnormalities. This case highlights that genetic testing helps confirm the diagnosis, and early magnesium supplementation effectively controls symptoms and prevents irreversible neurological impairment.

A 16-day-old male infant was hospitalized because of recurrent fever with rash for 14 days, unresponsive to anti-infective therapy. Clinical features included persistently elevated inflammatory markers, multisystem involvement (skin, nervous system, and heart), and facial dysmorphism (frontal bossing and saddle nose). Genetic testing revealed a de novo heterozygous, likely pathogenic NLRP3 variant (c.2269G>A, p.Gly757Arg). In combination with clinical findings, neonatal-onset multisystem inflammatory disease (NOMID) was diagnosed. Prenatal ultrasonography showed absence of the ductus venosus and bilateral ventriculomegaly, expanding the prenatal sonographic phenotype of NOMID. This case suggests that in neonates with unexplained fever, rash, poor response to anti-infective treatment, and facial dysmorphism, the presence of prenatal ultrasound abnormalities such as absent ductus venosus or ventriculomegaly should raise clinical suspicion for NOMID, and early genetic testing is recommended to confirm the diagnosis and guide intervention. Citation:Chinese Journal of Contemporary Pediatrics, 2026, 28(1): 111-114.

The prevalence of depressive disorder among adolescents is rising, causing serious harm to families and society. Examining risk behaviors such as gaming addiction, non-suicidal self-injury, and suicidal behaviors resulting from adolescent depressive disorder in light of psychosocial and pathophysiological perspectives, along with in-depth exploration of diagnostic and therapeutic dilemmas-including insidious onset, high comorbidity, and difficulties in differential diagnosis-helps build a multidimensional intervention system encompassing psychological, pharmacological, and physical therapies. It also provides a theoretical basis for promoting multicenter cohort studies and establishing a comprehensive prevention and control model linking families, schools, and hospitals. This paper systematically outlines the current epidemiological status, comorbidity spectrum, and clinical pathways for early identification and comprehensive intervention in adolescent depressive disorder.

Objectives: To establish a predictive model for severe Mycoplasma pneumoniae pneumonia (SMPP) in children younger than 5 years.

Methods: Clinical data of 504 children younger than 5 years with Mycoplasma pneumoniae pneumonia admitted to Xiaogan Hospital of Wuhan University of Science and Technology from January to December 2023 were retrospectively analyzed. Based on discharge diagnosis, patients were classified into a non-SMPP group (n=345) and an SMPP group (n=159). Univariate analysis and LASSO regression were used to screen predictors of SMPP. The selected variables were then entered into a multivariable logistic regression to construct the prediction model, and its performance was evaluated.

Results: Multivariable logistic regression identified lung imaging findings (proportion with consolidation), duration of fever, high-sensitivity C-reactive protein, lactate dehydrogenase, creatine kinase, and lymphocyte-to-neutrophil ratio as predictors of SMPP (P<0.05). The model based on these six indicators achieved an area under the receiver operating characteristic curve of 0.862 (95%CI: 0.824-0.900), with a sensitivity of 85.8% and a specificity of 77.4%. The calibration curve was close to the ideal curve, and Spiegelhalter's Z test indicated good calibration (P=0.313). Decision curve analysis showed a net benefit across a threshold probability range of 0.75%-100%, indicating high clinical applicability.

Conclusions: The predictive model based on lung imaging findings (proportion with consolidation), duration of fever, high-sensitivity C-reactive protein, lactate dehydrogenase, creatine kinase, and lymphocyte-to-neutrophil ratio shows good performance for predicting SMPP in children younger than 5 years.

This article interprets the "Expert consensus on the management of neonatal parenteral nutrition (2025)", focusing on precise control of parenteral nutrition fluid volume, key considerations for the stability of compounded nutrient solutions, scientific determination of amino acid dosing, and rational recommendations for intravenous lipid emulsion. The aim is to offer authoritative and clear guidance for frontline clinicians, and facilitate the widespread dissemination and effective implementation of the consensus, thereby strengthening the standardization of neonatal parenteral nutrition management and improving short- and long-term outcomes in neonates.

Objectives: To identify infant sleep patterns and explore their influencing factors, providing scientific evidence for the formation and intervention of healthy sleep patterns.

Methods: A total of 1 483 12-month-old infants from the Shanghai Birth Cohort were included. Sleep status was assessed using the Brief Infant Sleep Questionnaire. Latent class analysis was performed to integrate sleep behavior and sleep problem variables and to identify typical sleep patterns. A binary logistic regression model was employed to examine influencing factors.

Results: Two sleep patterns were identified: a good sleep pattern characterized by healthier sleep habits and fewer sleep problems, and a poor sleep pattern characterized by poorer sleep habits and more sleep problems. Logistic regression analysis showed that, compared with infants who had stopped breastfeeding, infants still being breastfed at 12 months were more likely to develop poor sleep patterns (OR=1.725, P<0.001). Compared with infants from families with better economic status, those from families with economic hardship were more likely to develop poor sleep patterns (OR=1.638, P=0.003). Outdoor activity for more than one hour per day was associated with better sleep patterns (OR=0.633, P<0.001), while screen exposure increased the risk of poor sleep patterns (OR=1.887, P<0.001).

Conclusions: Infant sleep patterns are influenced by multiple factors; increasing outdoor activity and limiting screen exposure help infants form good sleep patterns.

Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1. Fewer than 20 cases have been reported in the literature. In this review, the genetic pathogenesis, current diagnosis, and treatment of exercise-induced hyperinsulinism are systematically reviewed to improve clinicians' understanding of the disease.

Objectives: To study the clinical characteristics of DUX4-IGH fusion B-cell acute lymphoblastic leukemia (B-ALL) in children in order to inform the diagnosis and treatment of this subtype.

Methods: Clinical data of children with DUX4-IGH fusion B-ALL treated at Women and Children's Medical Center, Guangzhou Medical University from September 2020 to April 2024 were collected. DUX4-IGH fusion was identified by transcriptome sequencing, and clinical features, laboratory findings, and treatment outcomes were retrospectively analyzed.

Results: Among 315 children with B-ALL, 17 DUX4-IGH fusion cases were detected by transcriptome sequencing, accounting for 5.4%. The median age was 5.5 years (range: 2 years and 10 months to 12 years). Chromosome karyotypes were mostly normal. Based on age, white blood cell count, and central nervous system involvement, 15 patients (88.2%) were classified as low risk at initial diagnosis. After evaluation of treatment response, 7 patients were low risk and 10 were intermediate risk. The median follow-up was 38 months (range: 34 to 43 months), and the longest follow-up was 55 months. Minimal residual disease remained persistently negative in all 17 patients, and all patients remained event-free during follow-up.

Conclusions: DUX4-IGH fusion is relatively common in pediatric B-ALL. Transcriptome sequencing enables sensitive detection of this fusion, aiding precise subtyping and prognostic assessment. Early induction response is suboptimal, but the overall prognosis is favorable.

Objectives: To investigate whether miR-100-5p regulates the proliferation and apoptosis of acute myeloid leukemia (AML) cells by targeting Tribbles pseudokinase 1 (TRIB1).

Methods: Peripheral blood was collected from 16 healthy children (control group) and 16 children with AML (AML group). HL-60 cells were divided into seven groups: blank, mimic negative control (mimic NC), miR-100-5p mimic, small interfering RNA negative control (si-NC), si-TRIB1, miR-100-5p mimic + TRIB1 overexpression plasmid negative control (OE-NC), and miR-100-5p mimic + TRIB1 overexpression plasmid (OE-TRIB1). The expression of miR-100-5p and TRIB1 mRNA in peripheral blood and HL-60 cells was detected by quantitative real-time PCR. Cell proliferation was assessed by 5-ethynyl-2'-deoxyuridine (EdU) staining and the cell counting kit-8 (CCK-8) assay (OD₄₅₀). Apoptosis was analyzed by flow cytometry. Protein levels of TRIB1, proliferating cell nuclear antigen (PCNA), p53, programmed cell death protein 1 (PD-1), and programmed death-ligand 1 (PD-L1) were determined by Western blot. The targeting relationship between miR-100-5p and TRIB1 was validated by a dual-luciferase reporter assay.

Results: Compared with the control group, miR-100-5p expression was decreased and TRIB1 mRNA expression was increased in the peripheral blood of the AML group (P<0.05). Compared with the blank and mimic NC groups, the miR-100-5p mimic group showed higher miR-100-5p expression, apoptosis rate, and p53 protein, and lower TRIB1 mRNA expression, EdU-positive rate, OD₄₅₀ value, and TRIB1, PCNA, PD-1, and PD-L1 proteins (P<0.05). Compared with the blank and si-NC groups, the si-TRIB1 group exhibited reduced TRIB1 mRNA expression, EdU-positive rate, OD₄₅₀ value, and TRIB1, PCNA, PD-1, and PD-L1 proteins, together with increased apoptosis rate and p53 protein (P<0.05). Compared with the miR-100-5p mimic and miR-100-5p mimic + OE-NC groups, the miR-100-5p mimic + OE-TRIB1 group had elevated TRIB1 mRNA expression, EdU-positive rate, OD₄₅₀ value, and TRIB1, PCNA, PD-1, and PD-L1 proteins, and reduced apoptosis rate and p53 protein (P<0.05). Compared with the TRIB1-WT + mimic NC group, luciferase activity was decreased in the TRIB1-WT + miR-100-5p mimic group (P<0.05).

Conclusions: Overexpression of miR-100-5p inhibits proliferation and induces apoptosis of HL-60 cells by downregulating TRIB1.

Objectives: To investigate the effect of antenatal corticosteroids (ACS) on the risk of transient tachypnea of the newborn (TTN) and respiratory distress syndrome (RDS) within 24 hours after birth in late preterm infants born to mothers with gestational diabetes mellitus (GDM).

Methods: Clinical data of mothers with GDM and their late preterm infants admitted to the Department of Obstetrics, Xiamen Maternal and Child Health Hospital, from January 2017 to December 2023 were retrospectively reviewed. Based on whether mechanical ventilation was required within 24 hours after birth, infants were classified into a mechanical ventilation group (n=322) and a control group (n=1 098), and perinatal and maternal characteristics were compared. According to the interval from the first ACS dose to delivery, infants were categorized into <2 days (n=399), 2-7 days (n=305), and >7 days (n=60) groups; according to ACS dosage, they were categorized into no ACS (n=656), incomplete course (<2 doses; n=399), and complete course (≥2 doses; n=365) groups. Associations between ACS timing/dose and TTN and RDS were analyzed.

Results: A total of 1 420 infants were included. Multivariable logistic regression showed that ACS administration was a protective factor against the need for mechanical ventilation within 24 hours after birth (OR=0.125, 95%CI: 0.085-0.183). A complete ACS course was associated with a more pronounced reduction in the mechanical ventilation rate (OR=0.080, 95%CI: 0.049-0.130) and a lower incidence of TTN (P<0.001), while the incidence of RDS did not differ significantly (P>0.05). An interval of >7 days from the first ACS dose to delivery had the most marked association with reduced postnatal mechanical ventilation (OR=0.127, 95%CI: 0.047-0.348).

Conclusions: ACS does not reduce the incidence of RDS in late preterm infants of mothers with GDM, but it effectively reduces TTN and the need for mechanical ventilation within 24 hours after birth. A complete ACS course and an interval of >7 days from the first dose to delivery provide the greatest benefit in reducing TTN and early postnatal mechanical ventilation.