中国当代儿科杂志最新文献

Idiopathic short stature (ISS) is a term that encompasses a group of short stature disorders with unknown etiology. The genetic factors associated with ISS are complex, and the known genetic mechanisms include alterations in hormones, hormone receptors, or related pathways, defects in fundamental cellular processes (such as intracellular signaling pathways and transcriptional regulation), issues with extracellular matrix or paracrine signaling, as well as genetic variations in the genes encoding these proteins. Recombinant human growth hormone (rhGH) therapy is currently an effective clinical method for improving height in children with ISS. However, the efficacy of rhGH treatment on ISS varies among children with different genetic mechanisms. This paper analyzes and elucidates the genetic mechanisms of ISS and the effects of rhGH on ISS based on existing clinical research, aiming to enhance the understanding of ISS and provide references for improving the height of these children.

Objectives: To investigate the expression levels of ghrelin and liver-expressed antimicrobial peptide-2 (LEAP-2) in children with idiopathic short stature (ISS) to provide reference for further understanding the etiology of short stature.

Methods: A prospective study was conducted from December 2021 to October 2023, involving 46 children diagnosed with ISS (ISS group) and 46 healthy children with normal height (control group) at the First Affiliated Hospital of Shihezi University. General data and serum levels of ghrelin and LEAP-2 were compared between the two groups. The predictive value of these two indicators for ISS was evaluated using receiver operating characteristic (ROC) curve analysis.

Results: The serum level of ghrelin in the ISS group was higher than that in the control group, while the level of LEAP-2 was lower (P<0.05). The ratio of LEAP-2 to ghrelin was lower in the ISS group compared to the control group (P<0.05). Multivariate logistic regression analysis showed that HtSDS, IGF-1, ghrelin, LEAP-2, and the ratio of LEAP-2/ghrelin were independently associated with the occurrence of ISS (P<0.05). ROC curve analysis indicated that the AUCs for ghrelin, LEAP-2, the ratio of ghrelin to LEAP-2, and their combination in predicting ISS were all >0.8. The optimal cutoff values for ghrelin, LEAP-2, and the LEAP-2/ghrelin ratio were 5 607 pg/mL, 1 155 pg/mL, and 0.212, respectively. In children with ISS, ghrelin showed a negative correlation with chronological age, LEAP-2, and the LEAP-2/ghrelin ratio (P<0.05), while it was positively correlated with growth rate and peak growth hormone levels (P<0.05). LEAP-2 was negatively correlated with growth rate, peak growth hormone levels, and ghrelin (P<0.05), but positively correlated with chronological age and the LEAP-2/ghrelin ratio (P<0.05).

Conclusions: Ghrelin and LEAP-2 are correlated with the occurrence of ISS, which may provide references for the diagnosis and etiological analysis of children with ISS.

Objectives: To investigate the value of exercise challenge testing (ECT) in the diagnosis of cough variant asthma (CVA) in children.

Methods: A prospective study was conducted on 78 children with chronic cough who were admitted between January 2023 and January 2024. ECT was performed, and clinical data were collected. According to the effect of bronchodilator treatment, the children were divided into a CVA group (44 children) and a non-CVA group (34 children), and the two groups were compared in terms of clinical characteristics, pulmonary function, and ECT results before treatment.

Results: Compared with the non-CVA group, the CVA group had a significantly higher proportion of boys, a significantly higher proportion of children with exercise-induced chronic cough, a significantly higher level of fractional exhaled nitric oxide, and a significantly greater reduction in forced expiratory volume in 1 second (FEV₁) after ECT (P<0.05). The regression analysis showed that exercise-induced chronic cough and the reduction in FEV₁ were risk factors for CVA (P<0.05). A reduction in FEV₁ of 8.44% was the optimal cut-off value for ECT in the diagnosis of CVA, with an area under the curve of 0.751 (P<0.05), a sensitivity of 65.9%, and a specificity of 79.4%. For the children with exercise-induced chronic cough, a reduction in FEV₁ of 8.44% was the optimal cut-off value for ECT in the diagnosis of CVA, with an area under the curve of 0.810 (P<0.05), a sensitivity of 77.1%, and a specificity of 77.8%.

Conclusions: ECT has clinical application value in the etiological diagnosis of pediatric chronic cough, with a reduction in FEV1 of 8.44% serving as the optimal cut-off value for diagnosing CVA. It is particularly suitable for children with exercise-induced chronic cough, increasing the sensitivity for CVA diagnosis.

Objectives: To investigate the clinical characteristics of cytokine release syndrome (CRS) in children with thalassemia major (TM) after haploidentical hematopoietic stem cell transplantation (haplo-HSCT) and their prognosis.

Methods: A retrospective analysis was performed for the clinical data of 280 children with TM who underwent haplo-HSCT in the Department of Hematology and Oncology, Shenzhen Children's Hospital, from January 2019 to December 2021. According to the CRS criteria, they were divided into two groups: CRS grade <3 (260 children) and CRS grade ≥3 (20 children). The children with TM were analyzed in terms of clinical characteristics of CRS after haplo-HSCT and their prognosis.

Results: There were significant differences between the two groups in neutrophil engraftment time, clinical manifestations of CRS, and the rate of use of glucocorticoids within 4 days after haplo-HSCT (P=0.012, 0.040, and <0.001 respectively). For the CRS grade <3 group, the incidence rate of acute graft-versus-host disease (aGVHD) was 9.6% within 3 months after transplantation, while no aGVHD was observed in the CRS grade ≥3 group within 3 months after transplantation, but there was no significant difference in the incidence of aGVHD between the two groups within 3 months after transplantation (P=0.146). No transplantation-related death was observed in either group within 3 months after haplo-HSCT.

Conclusions: The children with CRS grade≥3 have an early neutrophil engraftment time, severe and diverse clinical manifestations of CRS, and a high rate of use of glucocorticoids within 4 days after haplo-HSCT. For these children, early use of low-dose glucocorticoids after transplantation may alleviate CRS response and reduce the incidence of aGVHD, thereby bringing more benefits to the children. CRS after haplo-HSCT has no significant impact on the prognosis of the children.

Objectives: To establish an efficient and clinically applicable predictive model and scoring system for central precocious puberty (CPP) in girls, and to develop a diagnostic prediction application.

Methods: A total of 342 girls aged 4 to 9 years with precocious puberty were included, comprising 216 cases of CPP and 126 cases of isolated premature thelarche. Lasso regression was used to screen for predictive factors, and logistic regression was employed to establish the predictive model. Additionally, a scoring system was constructed using the evidence weight binning method. Data from 129 girls aged 4 to 9 years with precocious puberty were collected for external validation of the scoring system.

Results: The logistic regression model incorporated five predictive factors: age, insulin-like growth factor-1 (IGF-1), serum follicle-stimulating hormone (FSH), the luteinizing hormone (LH)/FSH baseline ratio, and uterine thickness. The calculation formula was: ln(P/1-P)=-8.439 + 0.216 × age (years) + 0.008 × IGF-1 (ng/mL) + 0.159 × FSH (mIU/mL) + 9.779 × LH/FSH baseline ratio + 0.284 × uterine thickness (mm). This model demonstrated good discriminative ability (area under the curve=0.892) and calibration (Hosmer-Lemeshow test P>0.05). The scoring system based on this logistic regression model showed good discrimination in both the prediction model and external validation datasets, with areas under the curve of 0.895 and 0.805, respectively. Based on scoring system scores, the population was stratified into three risk levels: high, medium, and low. In the high-risk group, the prevalence of CPP exceeded 90%, while the proportion was lower in the medium and low-risk groups.

Conclusions: The CPP diagnostic predictive model established for girls aged 4 to 9 years exhibits good diagnostic performance. The scoring system can effectively and rapidly stratify the risk of CPP, providing valuable reference for clinical decision-making.

The clinical manifestations of cow's milk protein allergy (CMPA) in neonates are non-specific and involve multiple organ systems. CMPA may also adversely affect physical growth and central nervous system development in neonates, lead to functional disorders, and increase anxiety and stress among family members. Due to the lack of specific clinical manifestations and diagnostic methods, the diagnosis and management of CMPA in neonates continue to pose significant clinical challenges. To facilitate standardized diagnosis and treatment of CMPA in neonates, the Neonatology Group of the Pediatric Branch of the Chinese Medical Association and the Editorial Committee of the Chinese Journal of Pediatrics have jointly developed the "Expert Consensus on Diagnosis and Management of Neonatal Cow's Milk Protein Allergy (2023)". This article presents and interprets the key points of the consensus regarding dietary and nutritional management of CMPA in neonates.

There is a delay in the clinical diagnosis of Turner syndrome (TS), particularly for patients with mosaic karyotypes. This diagnostic delay can hinder age-appropriate treatments and lead to adverse health outcomes. Therefore, it is necessary to explore improvement measures for early diagnosis and treatment plans based on the current clinical situation. Furthermore, as research progresses, the focus of clinical diagnosis and treatment of TS is gradually expanding to multiple aspects, including cardiovascular health, fertility, and transitional care, in order to improve the prognosis and quality of life of the patients. This paper discusses the current clinical status and management key points of TS diagnosis and treatment, aiming to provide insights for improving the management of TS.

Objectives: To establish the pharmacokinetic model of linezolid in neonates, and to optimize the administration regimen.

Methods: A prospective study was conducted among 64 neonates with sepsis who received linezolid as anti-infective therapy, and liquid chromatography-tandem mass spectrometry was used to measure the plasma concentration of the drug. Clinical data were collected, and nonlinear mixed effects modeling was used to establish a population pharmacokinetic (PPK) model. Monte Carlo simulation and evaluation was performed for the optimal administration regimen of children with different features.

Results: The pharmacokinetic properties of linezolid in neonates could be described by a single-compartment model with primary elimination, and the population typical values for apparent volume of distribution and clearance rate were 0.79 L and 0.34 L/h, respectively. The results of goodness of fit, visualization verification, and the Bootstrap method showed that the model was robust with reliable results of parameter estimation and prediction. Monte Carlo simulation results showed that the optimal administration regimen for linezolid in neonates was as follows: 6 mg/kg, q8h, at 28 weeks of gestational age (GA); 8 mg/kg, q8h, at 32 weeks of GA; 9 mg/kg, q8h, at 34-37 weeks of GA; 11 mg/kg, q8h, at 40 weeks of GA.

Conclusions: The PPK model established in this study can provide a reference for individual administration of linezolid in neonates. GA and body weight at the time of administration are significant influencing factors for the clearance rate of linezolid in neonates.

A female infant, aged 11 days, was admitted due to dyspnea for 11 days after birth, with the main clinical manifestations of inspiratory dyspnea, feeding difficulties, and unusual facies (micrognathia, high palatal arch, cleft palate, glossoptosis, and oblique mouth to the right), and the preliminary diagnosis was Pierre-Robin syndrome. There was no marked improvement after treatment such as ventilator-assisted ventilation, nutrition, and surgical ligation of patent ductus arteriosus. Whole-exome sequencing of the family showed a heterozygous mutation of c.3082A>G (p.Ile1028 Val) in the CHD7 gene, which was a pathogenic mutation of CHARGE syndrome. The neonate was ultimately diagnosed with CHARGE syndrome, and the family decided to withdraw treatment due to concerns about poor prognosis. This article reports a case of CHARGE syndrome caused by a mutation in the CHD7 gene and the multidisciplinary diagnosis and treatment of this disease, in order to provide help for early disease identification and guide clinical decision-making.

Objectives: To investigate the nutritional status of children with Crohn's Disease (CD) at diagnosis and its association with clinical characteristics.

Methods: A retrospective analysis was performed for the clinical data and nutritional status of 118 children with CD who were admitted to Beijing Children's Hospital, Capital Medical University, from January 2016 to January 2024. A multivariate logistic regression analysis was used to investigate the risk factors for malnutrition.

Results: A total of 118 children with CD were included, among whom there were 68 boys (57.6%) and 50 girls (42.4%), with a mean age of (11±4) years. Clinical symptoms mainly included recurrent abdominal pain (73.7%, 87/118), diarrhea (37.3%, 44/118), and hematochezia (32.2%, 38/118), and 63.6% (75/118) of the children had weight loss at diagnosis. The incidence rate of malnutrition was 63.6% (75/118), and the children with moderate or severe malnutrition accounted for 67% (50/75). There were 50 children (42.4%) with emaciation, 8 (6.8%) with growth retardation, and 9 (7.6%) with overweight or obesity. Measurement of nutritional indices showed a reduction in serum albumin in 83 children (70.3%), anemia in 74 children (62.7%), and a reduction in 25 hydroxyvitamin D in 15 children (60%, 15/25). The children with malnutrition had significantly higher disease activity, proportion of children with intestinal stenosis, and erythrocyte sedimentation rate and a significant reduction in serum albumin (P<0.05). The multivariate logistic regression analysis showed that intestinal stenosis was an independent risk factor for malnutrition in children with CD (OR=4.416, P<0.05).

Conclusions: There is a high incidence rate of malnutrition in children with CD at diagnosis, which is associated with disease activity and disease behavior. The nutritional status of children with CD should be closely monitored.