Objective:To investigate the predictive value of neck circumference on cardiometabolic risk in children.Methods:This was a cross-sectional study of natural sources. As the prediction cohort, clinical data were collected from 3 443 children aged 5-14 years who underwent physical examination in the Department of Child Healthcare, Children′s Hospital of Nanjing Medical University from July 2021 to September 2022. As the validation cohort for external validation, clinical data were collected from 604 children aged 5-14 years who underwent physical examination in the Department of Child Healthcare, Children′s Hospital of Nanjing Medical University from October 2022 to March 2023. Height, weight, neck circumference, waist circumference and body composition were measured in both groups, and body mass index, neck circumference to height ratio (NHtR), waist circumference to height ratio, body fat percentage and skeletal muscle percentage were calculated. Systolic blood pressure, diastolic blood pressure, fasting blood glucose, blood lipid and uric acid and other cardiovascular and metabolic risk indicators were collected in both groups. The prediction cohort was further stratified into clustered and non-clustered groups based on the clustering of cardiometabolic risk factors (CCRF). Various variables between these 2 groups were compared using the Mann-Whitney U test. Pearson correlation and binary Logistic regression were conducted to investigate the correlations between neck circumference and cardiovascular metabolic risk factors. The accuracy of NHtR in predicting the CCRF was evaluated using the area under the curve (AUC) of receiver operating characteristic (ROC). The cutoff value was determined using the Youden index. The validation cohort was then divided into groups above and below the cutoff value, and the detection rate of CCRF between the 2 groups was compared using the χ2 test for validation .Results:In the prediction cohort of 3 443 children (2 316 boys and 1 127 girls), 1 395 (40.5%) children were overweight or obese, and 1 157 (33.6%) children had CCRF. Pearson correlation analysis revealed all significant positive correlations (all P<0.01) between neck circumference and systolic blood pressure ( r=0.47, 0.39), diastolic blood pressure ( r=0.27, 0.21), uric acid ( r=0.36, 0.30), and triglycerides ( r=0.20, 0.20) after adjusting for age in both males and females. Among both males and females, neck circumference both showed significant negative correlation (both P<0.01) with high-density lipoprotein cholesterol ( r=-0.27, -0.28), and no correlation with fasting glucose levels ( r=0.03, -0.03, both P>0.05). After adjusting for gender, age, and body fat percentage, increased body mass index, neck circumference, or waist circumference increased the risks of hypertension ( OR=1.23, 1.39, 1.07, all P<0.001), hyperuricemia ( OR=1.16, 1.23, 1.05, all P<0.001), hypertriglyceridemia ( OR=1.08, 1.16, 1.02, all P<0.01), low high-density lipoprotein cholesterol ( OR=1.10, 1.27, 1.03, all P<0.01), and the CCRF ( OR=1.51, 1.73, 1.15, all P<0.01). The areas under the ROC curves of NHtR in predicting CCRF was 0.73, with sensitivity and specificity at 0.66 and 0.71, respectively. The corresponding optimal cut-off value was 0.21. Validation with 604 children confirmed that the detection of CCRF in the NHtR≥0.21 group was 3.29 times (60.5% (112/185) vs. 18.7% (79/422), χ2=107.82, P<0.01) higher compared to the NHtR <0.21 group. Conclusions:Neck circumference is associated with cardiovascular metabolic risks such as hypertension, hyperlipidemia, hyperglycemia, and hyperuricemia in children. When the NHtR is ≥0.21, there is an increased likelihood of CCRF.

Objective:To establish and validate reference intervals of serum vitamin K for healthy children in China.Methods:A cross-sectional study was conducted from January 2020 to May 2023, involving 807 healthy children aged 0 to 14 years, selected by stratified random sampling based on the population distribution of children in eastern, central, western, and northeastern China. Sample collection was carried out in 16 hospitals across 12 provinces, autonomous regions, and municipalities. Basic information of the children was collected using a standardized self-design questionnaire. Serum levels of vitamin K 1 and vitamin K 2 (menaquinone-4 (MK-4), menaquinone-7 (MK-7)) were measured using liquid chromatography-tandem mass spectrometry. The reference intervals was established by direct approach. The children were divided into different groups by age. Inter-group comparisons were conducted using the Kruskal-Wallis non-parametric test, and the reference intervals ( P2.5- P97.5) were determined using non-parametric methods. Screening 40 healthy children for small sample validation based on age groups within the reference range(25 from eastern, 10 from central, and 5 from western regions). Results:The age of the 807 children was 5.00 (2.00, 9.81) years, and 495 (61.3%) were males and 312 (38.7%) females. Reference intervals were established for 795 children, of whom 303 children were aged 1 month to 3 years and 492 were aged 4 to 14 years. The reference intervals for serum vitamin K 1 were 0.09-4.54 μg/L for children aged 1 month to 3 years, and 0.10-1.73 μg/L for 4-14 years. For MK-7, the intervals were 0.07-1.42 μg/L for 1 month to 3 years and 0.19-2.03 μg/L for 4-14 years. The reference intervals for MK-4 in children aged 1 month to 14 years were 0-0.42 μg/L. The measured values of serum vitamin K 1, MK-4, and MK-7 in the validation samples did not exceed the reference limit in more than 2 samples. Conclusion:Reference intervals for vitamin K 1, MK-4, and MK-7 in healthy children aged 1 month to 14 years have been established and validated, and can be used to assess vitamin K nutritional status in children.

Objective:To compare the quality of sleep and rehabilitation after routine surgery versus day surgery in pediatric patients with snoring.Methods:This was a prospective study.Seventy pediatric patients with snoring, aged 4-6 yr, of American Society of Anesthesiologists Physical Status classification Ⅰ or Ⅱ, undergoing adenoidectomy and/or tonsillectomy in the Guangzhou Women and Children′s Medical Center from March to June 2023, were divided into routine surgery group (group R) and day surgery group (group D), with 35 cases in each group. A sleep-detecting bracelet was used to monitor the sleep status. The proportion of deep sleep, light sleep and rapid eye movement, sleep continuity score and the maximum and minimum heart rate were recorded on the night before surgery, the first and second night after surgery. Rehabilitation was assessed using Quality of Recovery-15 at 1 day before surgery and 24 and 48 h and 28 days after surgery.Results:Compared with group R, the maximum heart rate at the night before surgery was significantly decreased, the proportion of light sleep on the second night after surgery was increased, the proportion of rapid eye movement sleep on the second night after surgery was decreased, the scores for items on " getting support from hospital doctors and nurses", " feeling comfortable and in control", and " having a feeling of general well-being" and the total score of Quality of Recovery-15 were significantly decreased at 24 and 48 h after operation, and the score for items on " feeling rested" and " have had a good sleep" at 48 h after surgery was decreased in group D ( P<0.05). Conclusions:Pediatric patients with snoring have poor quality of early sleep and rehabilitation after day surgery compared with routine surgery.

Noonan syndrome(NS)is an inherited disease involving multiple systems.The main clinical manifestations include distinctive facial features, short stature, heart defects, developmental delay and chest deformity.Short stature, reported in up to 70% of NS patients, is one of the main reasons NS patients seek medical treatment.The pathogenesis is associated with the up-regulation of RAS-mitogen activated protein kinase(RAS-MAPK)signal pathway.Further study is needed for some further specific mechanisms.Recombinant human growth hormone(rhGH)therapy has been approved for NS patients with short stature and has achieved a good therapeutic effect.However, the knowledge of drug dosage, influencing factors, long-term efficacy and risk of rhGH treatment is still insufficient.This paper reviews the pathogenesis and treatment of short stature in NS, providing help for the treatment and management of the disease.

Type 1 diabetes mellitus(T1DM)is a disease that seriously harms children′s health.It often occurs in childhood and is a major public health problem all over the world.T1DM can cause damage to multiple systems including nervous, circulatory, urinary systems, etc.The etiology, prevention and treatment of T1DM have become a research hotspot.With the deepening of researches, the influence of T1DM on cognitive function in children has attracted increasing attention.T1DM can damage the brain structure, neurological development and cognitive function of children, influencing intelligence, attention, memory, executive function, etc.This paper reviews the recent researches between T1DM and cognitive function of children, so as to improve the awareness of pediatricians.

We report a fetus with recurrent intraparenchymal hemorrhage and cystic leukomalacia during pregnancy who was postnatally detected with a de novo mutation in the COL4A1 gene by genetic testing of umbilical cord blood. Multiple fresh hemorrhagic foci were detected in the fetal brain parenchyma and cerebellar hemisphere by ultrasound at 25 gestational weeks. Regular re-examination of the nervous system's ultrasound and magnetic resonance imaging (MRI) indicated recurrent multiple intraparenchymal hemorrhages followed by cystic leukomalacia. However, karyotyping and chromosomal microarray analysis of amniotic fluid showed no abnormality. The newborn was born by cesarean section at 37 +3 gestational weeks with an Apgar score of 10 at 1 and 5 min. Repeated apnea occurred after birth. MRI detected new intraparenchymal hemorrhage and cystic leukomalacia on the six-day of life. The infant's limb muscle tone remained low on the 90-day follow-up. The patient was lost to follow up. Whole-exome sequencing of the cord blood identified a de novo heterozygous mutation- c.4738G>A in the COL4A1 gene (NM_001845.4; p.G1580S) neither parent carried. It suggests that the genetic test of the COL4A1 mutation should be considered for fetuses with intracranial hemorrhage in the prenatal diagnosis, especially those with recurrent fetal intraparenchymal hemorrhage followed by cystic leukomalacia. Genetic tests could help analyze the fetal prognosis, and guide the delivery mode.

Objective:To evaluate the efficacy of auricular acupoint pressure therapy combined with intranasal dexmedetomidine for transthoracic echocardiography in pediatric patients.Methods:A total of 117 pediatric patients with congenital heart disease, of American Society of Anesthesiologists physical status Ⅱ or Ⅲ, aged 3-36 months, weighing 5-20 kg, scheduled for elective transthoracic echocardiography under outpatient sedation, were selected.Transthoracic echocardiography was performed under sedation using intranasally administered dexmedetomidine or using auricular acupoint pressure therapy combined with intranasal dexmedetomidine.The interval between the two sedation methods was at least 1 week.Intranasal dexmedetomidine: Dexmedetomidine 3 μg/kg was administered to both nostrils via a nebulizer, with 1/2 dose in each nostril.Intranasal dexmedetomidine combined with auricular acupoint pressure: auricular acupressure with Wang Bu Liu Xing (semen vaccariae) seeds was used at the auricular acupoints.After each acupoint was rubbed for about 1 min, dexmedetomidine 3 μg/kg was administered to both nostrils via a nebulizer, with 1/2 dose in each nostril.After the examination, auricular acupoint pressure therapy was continued at home, and pressing-rubbing at the acupoints was manipulated for 3 times daily, one of which was performed at 30 min before going to bed, for 3 consecutive days.When the University of Michigan Sedation Scale score≥2 and body movement score ≥2 within 30 min after giving dexmedetomidine, sedation was considered to be successful.The onset time of sedation, examination time, waiting time, recovery time and the success of sedation were recorded.The incidence of adverse reactions such as bradycardia, hypotension, hypertension, hypoxemia, nausea and vomiting, respiratory depression, restlessness, hyperactivity, action imbalances and allergic reaction were recorded within 24 h after administration of dexmedetomidine.Time to recovery and improvement of sleep quality at night were recorded.Results:Compared with intranasal dexmedetomidine, the successful rate of sedation and incidence of improvement of sleep quality at night were significantly increased ( P<0.05), and no significant change was found in adverse reactions using intranasal dexmedetomidine combined with auricular acupoint pressure ( P>0.05). Conclusion:Intranasal dexmedetomidine combined with auricular acupoint pressure therapy can increase the successful rate of sedation and improve the sleep quality at night in pediatric patients undergoing transthoracic echocardiography when compared to intranasal dexmedetomidine.

OBJECTIVE: To explore the genetic basis for a sib pair featuring 17beta-hydroxysteroid dehydrogenase type 3 deficiency. METHODS: Genomic DNA was extracted from the proband, her sister, and their parents, and was subjected to sequencing analysis with a gene panel for sexual development. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both the proband and her sister were found to harbor novel compound heterozygous missense variants of the HSD17B3 gene, namely c.839T>C (p.Leu280Pro) and c.239G>T (p.Arg80Leu), which were derived respectively from their mother and father. The variants were unreported previously and predicted to be deleterious by PolyPhen2, MutationTaster and other online software. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.839T>C(p.Leu280Pro) and c.239G>T (p.Arg80Leu) were predicted to be likely pathogenic (PM2+PP1+PP2+PP3+PP4, PM2+PM5+PP1+PP2+PP3+PP4). CONCLUSION The compound heterogeneous variants of the HSD17B3 gene probably underlay the disease in this sib pair. 17beta-hydroxysteroid dehydrogenase type 3 deficiency may lack specific clinical features and laboratory index, genetic testing can facilitate a definitive diagnosis.
17-Hydroxysteroid Dehydrogenases/genetics* ; Female ; Genetic Testing ; Genomics ; Humans ; Mutation ; Mutation, Missense

Objective: To explore the indoor air quality of Harbin and its suburbs, and analyze the influence of indoor air quality on the pulmonary function indexes of schoolchildren, and to provide a reference for preventing the related respiratory diseases. Methods: The concentration of CO 2, formaldehyde, benzene, PM 10 and total bacterial count in indoor of 80 residents in Harbin and its suburb were monitored. The IAAH model was used to evaluate the indoor air quality, and the correlation between the indoor air quality and the pulmonary function indexes of schoolchildren was analyzed. Results: The levels of indoor air pollutant in suburb was higher than that in the urban of Harbin, and the concentration of CO 2, PM 10 and total bacteria count in the suburb of Harbin increase significantly during the heating season(t=5.86，4.92，21.16, P<0.05). Among the 40 households monitored by IAAH model in suburb during heating season, 37.5% had moderate air pollution, and 20.0% had severe air pollution. The IAAH was correlated with FVC, FEF75% and FEF25% after excluding the confounding factors by multiple linear regression(β=-0.17, -0.34, -0.43, P<0.05). Conclusion Indoor air pollution is very serious in the suburb of Harbin during heating season, which should be paid attention to by parents to prevent related respiratory diseases of schoolchildren.

Type 1 diabetes mellitus(T1DM)is a chronic, immune-mediated disease characterised by the destruction of insulin-producing cells.The specific pathogenesis of T1DM has not been clarified.It is mainly believed that the occurrence of T1DM is caused by the joint action of genetic and environmental factors.The occurrence, development, treatment and prevention of T1DM are urgent problems to be solved.A number of studies have found that vitamin D is involved in the pathological process of many autoimmune diseases and is related to cell proliferation, differentiation, apoptosis and other mechanisms.Vitamin D may play a key role in the pathological mechanism of T1DM.Here we review the relationship between the incidence, prevention and treatment of T1DM and vitamin D.