Humans ; Infant, Premature ; Patient Discharge ; Infant, Newborn ; Consensus ; Quality of Life ; Aftercare ; Infant, Premature, Diseases/therapy* ; Follow-Up Studies

OBJECTIVES: To investigate the epidemiological characteristics and changing trends of communicable diseases among children and adolescents in China from 1990 to 2021. METHODS: Based on the Global Burden of Disease Database, epidemiological indicators for communicable diseases among the population aged under 20 years in China from 1990 to 2021 were selected to analyze the burden of communicable diseases in this population, and a comparative analysis was performed with global data as well as data from Western Europe and North America. RESULTS: In 1990-2021, the overall burden of communicable diseases tended to decrease among children and adolescents in China. In 2021, the prevalence rate of communicable diseases in China was lower than the global prevalence rate and was higher than that in Western Europe and North America. There was a significant reduction in the mortality rate of communicable diseases, and the gap with Western Europe and North America gradually narrowed year by year. The overall incidence rate, mortality rate, and disability-adjusted life year rate of communicable diseases in males were higher than those in females, and respiratory infections and intestinal infections were more common in children aged <5 years, while the incidence rate of sexually transmitted diseases was higher in adolescents. CONCLUSIONS From 1990 to 2021, the disease burden of communicable diseases among the population under 20 years old in China has significantly decreased. However, there is still a certain gap compared to developed regions. Strengthening the prevention and control of diseases such as respiratory infections and acquired immunodeficiency syndrome, as well as enhancing health interventions for children under 5 years old, will help improve the overall health level of children and adolescents in China.
Humans ; Adolescent ; Communicable Diseases/mortality* ; Child ; China/epidemiology* ; Male ; Female ; Child, Preschool ; Infant ; Young Adult ; Cost of Illness ; Infant, Newborn

OBJECTIVES: To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the C12orf65 gene, and to enhance the awareness of this disease. METHODS: A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes. RESULTS: A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the C12orf65 gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients. CONCLUSIONS COXPD7 associated with the C12orf65 gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.
Child, Preschool ; Female ; Humans ; Infant ; Male ; Mitochondrial Diseases/genetics* ; Mitochondrial Proteins/genetics* ; Mutation ; Oxidative Phosphorylation ; Infant, Newborn

The patient is a male neonate born at term. He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress. Physical examination revealed a cleft palate, and a grade II systolic ejection murmur was audible at the left sternal border. Whole exome sequencing identified a heterozygous variant in the SON gene, c.5753-5756del (p.Val1918GlufsTer87), which was absent in either parent, indicating a de novo mutation. According to the guidelines of the American College of Medical Genetics and Genomics, this was classified as a "pathogenic variant" leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. Upon admission, symptomatic supportive treatment was provided. Follow-up at the age of 8 months revealed persistent stridor; the infant could only consume small amounts of milk and was unable to sit steadily. This patient represents the youngest reported case to date, and his symptoms expand the clinical spectrum of the disease, providing valuable insights for clinical diagnosis and treatment.
Humans ; Infant, Newborn ; Male ; Minor Histocompatibility Antigens/genetics* ; DNA-Binding Proteins/genetics* ; Rare Diseases/genetics* ; Neurodevelopmental Disorders/genetics*

OBJECTIVES: To investigate the risk factors for the occurrence of cardiopulmonary dysfunction following ligation of hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants. METHODS: A retrospective collection of clinical data was conducted on preterm infants with a gestational age of <34 weeks who were admitted to the Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology from January 2018 to August 2024. These infants underwent hsPDA ligation after 1-2 courses of failed ibuprofen treatment. Based on the occurrence of blood pressure changes and oxygenation or ventilation failure postoperatively, the infants were divided into a cardiopulmonary dysfunction group (19 cases) and a non-cardiopulmonary dysfunction group (40 cases). Binary logistic regression analysis was performed to explore risk factors for postoperative cardiopulmonary dysfunction. RESULTS: Binary logistic regression analysis indicated that a faster average weight gain rate preoperatively and low levels of free triiodothyronine (FT₃) within one week before surgery were risk factors for cardiopulmonary dysfunction following hsPDA ligation (P<0.05). Receiver operating characteristic curve analysis showed that an average weight gain rate >11.45 g/(kg·d) and FT₃ levels <2.785 pmol/L within one week before surgery had predictive value for postoperative cardiopulmonary dysfunction (P<0.05). The combination of these two indicators provided the highest predictive value (P<0.05), with an area under the curve of 0.825, a sensitivity of 79%, and a specificity of 75%. CONCLUSIONS An average weight gain rate exceeding 11.45 g/(kg·d) and FT₃ levels below 2.785 pmol/L within one week before surgery are risk factors affecting cardiopulmonary function after hsPDA ligation. Preoperative assessment and intervention should be strengthened to reduce the risk of postoperative complications.
Humans ; Ductus Arteriosus, Patent/physiopathology* ; Risk Factors ; Female ; Infant, Newborn ; Male ; Retrospective Studies ; Infant, Premature ; Ligation/adverse effects* ; Hemodynamics ; Postoperative Complications/etiology* ; Logistic Models ; Lung Diseases/etiology*

OBJECTIVES: To evaluate the clinical value of next-generation sequencing (NGS) in neonatal disease screening, particularly its advantages when combined with tandem mass spectrometry (MS/MS). METHODS: A prospective study was conducted involving blood samples from 1 999 neonates born at the Shenzhen Guangming District People's Hospital, between May and August 2021. All samples were initially screened using MS/MS and fluorescence immunoassay, followed by NGS to detect high-frequency variation sites in 135 related pathogenic genes. Suspected positive variants were validated using Sanger sequencing or multiplex ligation-dependent probe amplification in family studies. RESULTS: No confirmed positive cases were found in the MS/MS analysis of the 1 999 neonates. Genetic screening identified 58 positive cases (2.90%), 732 carriers of pathogenic genes (36.62%), and 1 209 negative cases (60.48%). One case of neonatal intrahepatic cholestasis was diagnosed (0.05%, 1/1 999). Fluorescence immunoassay identified 39 cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency (1.95%, 39/1 999), while genetic screening identified 43 cases of G6PD deficiency (2.15%, 43/1 999). The fluorescence immunoassay also detected 6 cases of hyperthyrotropinemia (0.30%, 6/1 999), all of whom carried DUOX2 gene variants. The top ten pathogenic gene carrier rates were G6PD (12.8%), DUOX2 (8.7%), HBB (8.2%), ATP7B (6.6%), GJB2 (5.7%), SLC26A4 (5.6%), PAH (5.6%), ACADSB (4.6%), SLC25A13 (4.2%), and SLC22A5 (4.1%). CONCLUSIONS NGS can serve as an effective complement to MS/MS, significantly improving the detection rate of inherited metabolic disorders in neonates. When combined with family validation, it enables precise diagnosis, particularly demonstrating complementary advantages in screening for monogenic diseases such as G6PD deficiency.
Humans ; Infant, Newborn ; High-Throughput Nucleotide Sequencing/methods* ; Neonatal Screening/methods* ; Tandem Mass Spectrometry ; Prospective Studies ; Female ; Male ; Infant, Newborn, Diseases/diagnosis* ; Genetic Testing

Seizures are common clinical emergencies in neonatology, potentially leading to severe complications and directly impacting the neurodevelopmental prognosis of the infants with this condition. For primary healthcare providers, key clinical challenges include standardized emergency management, precise clinical diagnosis and treatment, and accurate assessment of referral indications. To assist primary healthcare providers in the prompt identification and standardized management of neonatal seizures, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association organized a panel of experts to develop the "Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal seizures (2025)", based on the latest clinical evidence and expert consensus. This guideline provides primary healthcare providers with 17 recommendations addressing nine common clinical questions in neonatal seizures.
Humans ; Infant, Newborn ; Seizures/therapy* ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis*

Neonatal transport is a crucial aspect of clinical work in neonatology, aimed at timely and safely transferring high-risk neonates from birth facilities or primary healthcare institutions to neonatal centers equipped for critical care. This ensures timely diagnosis and treatment, thereby reducing mortality and complications and improving outcomes. Currently, there is significant regional variation in neonatal transport practices across China. In response, the Subspecialty Group of Neonatology of Society of Pediatrics of Chinese Medical Association and the Editorial Board of Chinese Journal of Contemporary Pediatrics have jointly developed the "Guideline for the diagnosis and treatment of common neonatal diseases in primary healthcare institutions: neonatal transport (2025)". This guideline addresses 10 clinical issues related to neonatal transport and formulates 18 recommendations based on the best available evidence and expert consensus. It aims to provide a systematic approach to neonatal transport in primary care settings, tailored to the national context of China, offering guidance and decision-making support for primary healthcare providers.
Humans ; Infant, Newborn ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis* ; Transportation of Patients/standards*

To assist primary healthcare personnel in promptly and accurately identifying neonatal vomiting, providing precise diagnosis, standardized treatment, or timely referral for rescue, thereby reducing the occurrence of complications and ensuring the health of infants, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association has organized experts to formulate this consensus based on the latest clinical research advancements and thorough discussions. This consensus addresses eight common clinical issues faced by primary healthcare personnel and forms 21 recommendations.
Humans ; Infant, Newborn ; Vomiting/etiology* ; Primary Health Care ; Consensus ; Infant, Newborn, Diseases/diagnosis*

In order to further enhance the capacity of primary healthcare providers to perform neonatal resuscitation, and to reduce the incidence and mortality of asphyxia-related complications, the Subspecialty Group of Neonatology, Society of Pediatrics, Chinese Medical Association, in collaboration with the Editorial Board of the Chinese Journal of Contemporary Pediatrics, organized experts to integrate the latest clinical research advances in neonatal resuscitation. Considering the realities of primary healthcare institutions, this guideline was developed after thorough expert discussion. The guideline addresses nine common issues concerning neonatal resuscitation faced by primary healthcare providers and provides 22 recommendations.
Humans ; Infant, Newborn ; Resuscitation/standards* ; Primary Health Care ; Infant, Newborn, Diseases/diagnosis*