Pediatric patients in the neonatal intensive care unit (NICU) and the pediatric intensive care unit (PICU) have a high incidence rate of genetic diseases, and early rapid etiological diagnosis and targeted interventions can help to reduce mortality or improve prognosis. Whole-genome sequencing covers more comprehensive information including point mutation, copy number, and structural and rearrangement variations in the intron region and has become one of the powerful diagnostic tools for genetic diseases. Sequencing data require highly professional judgment and interpretation and are returned for clinical application after several weeks, which cannot meet the need for the diagnosis and treatment of genetic diseases in children. This article introduces the clinical application of rapid whole-genome sequencing in the NICU/PICU and briefly describes related techniques of artificial intelligence-rapid whole-genome sequencing diagnostic system, a rapid high-throughput automated platform for the diagnosis of genetic diseases. The diagnostic system introduces artificial intelligence into the processing of data after whole-genome sequencing and can solve the problems of long time and professional interpretation required for routine genome sequencing and provide a rapid diagnostic regimen for critically ill children suspected of genetic diseases within 24 hours, and therefore, it holds promise for clinical application.

Objective Most patients with recurrent wheezing are infants under 2 years of age. Clinical prediction models of the risk of receiving airway support during the hospital stay in this population have been poorly studied in tropical countries. This study aimed to evaluate the clinical predictors of hospitalization plus airway support among infants with recurrent wheezing evaluated in the emergency department in Colombia. Methods A retrospective cohort study was performed. This study included all infants with two or more wheezing episodes who were younger than two years old in two tertiary centers in Rionegro, Colombia, between January 2019 and December 2019. The primary outcome measure was hospitalization plus any airway support. A multivariable logistic regression model was used to identify factors independently associated with hospitalization plus any airway support. Results A total of 85 infants were hospitalized plus any airway support, of whom 34(40%) were treated with high flow nasal canula, 2(2%) received non-invasive ventilation, 6(7%) were mechanically ventilated, and 43 (51%) received conventional oxygen therapy. The multivariable logistic regression model showed that predictors of hospitalization plus airway support included prematurity (OR=1.79, 95%CI: 1.04-3.10), poor feeding (OR=2.22, 95%CI: 1.25-3.94), nasal flaring and/or grunting (OR=4.27, 95%CI: 2.41-7.56), and previous wheezing episodes requiring hospitalization (OR=3.36, 95%CI: 1.86-7.08). The model has a high specificity (99.6%) with acceptable discrimination and an area under the curve of 0.70(95%CI: 0.60-0.74). Conclusions The present study shows that prematurity, poor feeding, nasal flaring and/or grunting, and more than one previous episode of wheezing requiring hospitalization are independent predictors of hospitalization plus airway support in a population of infants with recurrent wheezing in the emergency department. More evidence must be collected to examine the results in other tropical countries.

Objective To study the association of serum levels of trace elements with core symptoms in children with autism spectrum disorder (ASD). Methods From September 2018 to September 2019, an investigation was performed for 1 020 children with ASD and 1 038 healthy children matched for age and sex in the outpatient service of grade A tertiary hospitals and special education institutions in 13 cities of China. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), and Childhood Autism Rating Scale (CARS) were used to assess the core symptoms of the children with ASD. The inductively coupled plasma mass spectrometry was used to measure serum levels of trace elements magnesium, iron, copper, and zinc. Results The children with ASD had significantly lower serum levels of magnesium, copper, and zinc than the healthy children (P < 0.05). The children with severe ASD had significantly lower serum levels of magnesium and zinc than those with mild-to-moderate ASD (P < 0.05). The results of partial correlation analysis showed that serum magnesium level was negatively correlated with the total score of ABC and the score of communication (r=-0.318 and -0.282 respectively; P < 0.001), and serum zinc level was negatively correlated with the total score of ABC and the scores of communication and somatic movement (r=-0.221, -0.270, and -0.207 respectively; P < 0.001). Conclusions The serum levels of magnesium and zinc may be associated with core symptoms in children with ASD, which requires further studies. The nutritional status of trace elements should be monitored for children with ASD in clinical practice.

Objective To study the clinical features of children with influenza A virus infection and neurological symptoms. Methods A retrospective analysis was performed for the clinical data of children with laboratory-confirmed influenza A and neurological symptoms who were treated in Xi’an Children's Hospital Affiliated to Xi’an Jiaotong University from January to December, 2019. Results A total of 895 children were diagnosed with influenza A, among whom 291 had neurological symptoms. Boys had a significantly higher incidence rate of influenza A than girls (P < 0.05), and the children aged 1-3 years had a significantly higher incidence rate than the other age groups (P < 0.05). Common neurological symptoms included seizures (97.3%), vomiting (24.1%), and headache (7.2%). Febrile seizures were the most common type of seizures, accounting for 88%. There was no significant difference in the time from disease onset to seizures and frequency seizures between the children with a history of febrile seizures and those without such history (P > 0.05). Of all the children, 3 were diagnosed with acute necrotizing encephalopathy (ANE), all of whom were girls and suffered seizures; the time from the first seizures to the occurrence of disturbance of consciousness was 0-7 hours, and 2 girls died within 2 days after disease onset. All children, except 2 who died of ANE and 1 with neurological sequelae, were cured. Conclusions There is a high incidence rate of neurological symptoms in children with influenza A, and seizures are the most common symptom. Most of the patients with neurological symptoms tend to have a good prognosis, but those with ANE may have a poor prognosis.

Objective To study the epidemiological features of children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Shijiazhuang, China. Methods Based on the information officially announced on the official website of the Health Commission of Hebei Province, epidemiological data were collected from 133 children, aged 0-18 years, who were diagnosed with SARS-CoV-2 infection in Shijiazhuang from January 2 to January 30, 2021. A statistical analysis was performed for general status, regional distribution, presence or absence of clusters, and results of SARS-CoV-2 nucleic acid tests. Results Among the 133 children with SARS-CoV-2 infection, there were 65 boys and 68 girls, with a male/female ratio of 0.96:1. The youngest age of onset was 3 months and 7 days, and the mean age of onset was (9±5) years. Of all the 133 children, 90(67.7%) were the first confirmed case of SARS-CoV-2 infection among their family members. Of all the children, 108(81.2%) came from the Gaocheng District in Shijiazhuang, among whom 38(28.6%) were from Xiaoguozhuang Village where the first patient with a confirmed diagnosis lived. SARS-CoV-2 nucleic acid test at week 2 after the outbreak showed positive results in 88 children (66.2%), and only 5 children had clinical symptoms before positive SARS-CoV-2 results were obtained. Of all the 133 children, 19(14.3%) were found positive in the first SARS-CoV-2 nucleic acid test after the outbreak, and 70(52.6%) had positive results for ≥4 times. There were 98 school students with infection, among whom 74(75.5%) were the first confirmed case in their family, and among 35 non-school students, 16(45.7%) were the first confirmed case in their family (P < 0.05). Conclusions Among the children confirmed with SARS-CoV-2 infection in Shijiazhuang, there is a high proportion of children who are the first confirmed case in their family, and the children are mainly distributed in the rural areas of Gaocheng. Most of these children are students, so the prevention and control of cluster infection in schools should be taken seriously. There are often no symptoms before SARS-CoV-2 nucleic acid test, with a low positive rate of the first nucleic acid test, which increases the difficulty of early discovery of the epidemic.

Objective To study the epidemiological and clinical features of children with mild coronavirus disease 2019 (COVID-19). Methods The children who were diagnosed with mild COVID-19 in the Wuchang Shelter Hospital in Wuhan from February 5 to March 10, 2020 were enrolled as subjects. The clinical, laboratory, and lung imaging data were collected during hospitalization and isolation. This was a retrospective single-center case series analysis. Results A total of 1 124 patients with mild COVID-19 were admitted from February 5 to March 10, 2020, including 13 children (1.16%). All the 13 children (7 boys and 6 girls) were residents of Wuhan in China, with a median age of 16 years (range: 10-18 years). Of all the 13 children, 9(69%) were from family clusters of COVID‐19 and 4(31%) had unknown sources of infection. The mean time from exposure to onset was 6.8 days (range: 2-13 days) in 9 children with a definite history of exposure. There were 6 symptomatic children with the main manifestations of fever, cough, weakness, and myalgia, and the mean time from onset to hospitalization was 9.2 days. Of all the 13 children, 7(54%) were asymptomatic with positive nucleic acid test of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). There were 4 children (31%) with abnormal lung CT findings, mainly patchy shadows or ground-glass opacities in the lung field, and 6 children (46%) had no symptoms with normal lung CT findings. All children had normal routine blood test results and C-reactive protein levels. Eight children underwent SARS-CoV-2 IgM and IgG tests at least once, among whom 6 had negative SARS-CoV-2 IgM but positive IgG, and 2 underwent SARS-CoV-2 IgM and IgG tests twice and had negative results. Of all the 13 children, 11(85%) had negative results of two SARS-CoV-2 nucleic acid tests during hospitalization and were discharged, and 2(15%) had positive results of four SARS-CoV-2 nucleic acid tests and were transferred to another hospital and lost to follow-up. Among the 11 children who were followed up, 1 had positive results of two SARS-CoV-2 nucleic acid tests at the isolation point, and 10 had negative results. The mean hospital stay was 10.9 days for the 13 children. Eleven children recovered during follow-up, with good living and learning conditions. Conclusions Children with mild COVID-19 often have an uncertain history of exposure and may not have any clinical symptoms. Etiological diagnosis is more important than clinical diagnosis. The disappearance of clinical manifestations may not parallel with the result of SARS-CoV-2 nucleic acid test. SARS-CoV-2 has a long detoxification time, and there may be recurrent cases of SARS-CoV-2 positivity. Further studies are needed to investigate the production patterns of SARS-CoV-2 IgM and IgG and their effect on the body.

Objective To analyze the clinical data of children with invasive pneumococcal disease (IPD) or noninvasive pneumococcal disease (NIPD), and to provide a reference for clinical diagnosis and treatment. Methods A retrospective analysis was performed on the medical data and the drug susceptibility test results of isolated strains of 518 children who were hospitalized due to Streptococcus pneumoniae (SP) infection from January 2013 to December 2017. According to the location of the isolated strains, the children were divided into an IPD group with 35 children and an NIPD group with 483 children. Results The children with IPD had a median age of 2.2 years, and the children aged ≤5 years accounted for 80.0%. For the children with IPD, the main type of infection was meningitis which was observed in 19 children (54.3%), and the most common underlying disease was hematological malignancy in 8 children (22.9%); 14 children (40.0%) were admitted to the pediatric intensive care unit (PICU), 18 children (51.4%) experienced complications, and 8 children (22.9%) died. For the children with NIPD, the median age was 1.2 years; the main type of infection was pneumonia in 429 children (88.8%), and the most common underlying disease was congenital heart disease in 60 children (12.4%); 60 children (12.4%) were admitted to the PICU, 102 children (21.1%) experienced complications, and 11 children (2.3%) died. The IPD group had significantly higher incidence rate of complications, PICU admission rate, and mortality rate than the NIPD group (P < 0.01). The invasive SP strains had a significantly lower susceptibility rate to penicillin than noninvasive SP strains (68.6% vs 94.2%, P < 0.01). Conclusions SP infection is common in children under 5 years of age, and the children with underlying diseases including hematological malignancy are at high risk for IPD. Although the complication rate, PICU admission rate, and mortality rate of NIPD children are lower than those of IPD children, they still cannot be ignored. Penicillin may be used as an empirical treatment for children with NIPD, but not for those with IPD.

Objective To evaluate the value of chitinase-like protein YKL-40 in bronchoalveolar lavage fluid (BALF) for predicting refractory Mycoplasma pneumoniae pneumonia (RMPP) in children. Methods A total of 50 children with common Mycoplasma pneumoniae pneumonia (MPP) and 22 children with RMPP were enrolled. The two groups were compared in terms of clinical features, laboratory examination results, imaging findings, and YKL-40 levels in BALF. The receiver operating characteristic (ROC) curve was used to evaluate the value of YKL-40 in BALF for predicting RMPP. Results Compared with the common MPP group, the RMPP group had significantly higher incidence rates of fever, shortness of breath, lung consolidation, and pleural effusion (P < 0.05) and significantly higher serum levels of C-reactive protein and lactate dehydrogenase (P < 0.05). The RMPP group had a significantly higher level of YKL-40 in BALF than the common MPP group (P < 0.05). The ROC curve plotted based on the level of YKL-40 in BALF had an area under the ROC curve of 0.750, a sensitivity of 72.7% and a specificity of 64.0% for predicting RMPP. Conclusions There is an increase in the level of YKL-40 in BALF in children with RMPP, and the level of YKL-40 in BALF has a certain value for predicting RMPP.

Objective To study the effect of oral motor intervention (OMI) on brain function development in preterm infants. Methods A total of 112 preterm infants were stratified into small-gestational-age (30-31⁺⁶ weeks) and large-gestational-age (32-33⁺⁶ weeks) according to gestational age at birth. The preterm infants were randomly divided into a control group and an intervention group, with 56 infants in each group. The infants in the control group were given routine treatment and nursing, while those in the intervention group were given OMI in addition to the treatment and nursing in the control group. Amplitude-integrated EEG (aEEG) and Neonatal Behavioral Neurological Assessment (NBNA) were performed on days 1, 7, and 14 of enrollment, and the level of brain function development was compared before and after intervention. Results On day 7 of OMI, the small-gestational-age intervention group had lower upper bounds of voltage and bandwidth and a higher aEEG score than the small-gestational-age control group (P < 0.05). Compared with the small-gestational-age control group, the small-gestational-age intervention group had higher upper bound of voltage, percentage of mature sleep-wake cycle, aEEG score, and NBNA score and a lower narrow bandwidth on day 14 of OMI (P < 0.05). Compared with the large-gestational-age control group, the large-gestational-age intervention group had lower upper voltage and voltage difference and higher lower bound of voltage and aEEG score on days 7 and 14 of OMI (P < 0.05). On day 7 of OMI, the large-gestational-age intervention group had a higher NBNA score than the large-gestational-age control group (P < 0.05). Conclusions OMI can promote the maturation of aEEG background activities, improve neurobehavioral manifestations, and accelerate brain function development in preterm infants.

Objective To analyze the screening results of glucose-6-phosphate dehydrogenase (G6PD) deficiency and gene mutation distribution of G6PD deficiency in preterm infants in Chengdu, China, in order to provide a basis for the improvement of G6PD screening process in preterm infants. Methods Fluorescent spot test for G6PD deficiency using dried blood spots was used for G6PD screening of 54 025 preterm infants born from January 1, 2015 to December 31, 2019 in Chengdu, and G6PD enzymology and gene detection were used for the diagnosis of 213 infants with positive screening results. Results Among the 54 025 preterm infants, 192 were diagnosed with G6PD deficiency, with an incidence rate of 3.55‰. The incidence rate of G6PD deficiency in preterm infants was higher than that in full-term infants in the same period of time and tended to increase year by year. Birth in summer, gestational age <32 weeks, and birth weight <2 500 g were influencing factors for the increase in false positive rate of screening (P < 0.05). The diagnostic accordance rate of genetic tests was significantly higher than that of enzyme activity assay in female infants (P < 0.05). Nine gene mutations were detected in Chengdu, without compound heterozygous mutation. Homozygous mutation was not detected in female infants. In the 80 infants with gene mutations, the top three gene mutations were c.1388G>A in 26 infants (32%), c.1376G>T in 21 infants (26%), and c.1024C>T in 13 infants (16%), accounting for 75%. There was a significant difference in pathogenicity grading among the three gene mutations (P < 0.001). The pairwise comparison showed that c.1024C>T had a significantly lower pathogenicity grade than c.1376G>T and c.1388G>A (P < 0.0167), suggesting that c.1376G>T and c.1388G>A had greater influence on enzyme activity than c.1024C>T. Conclusions Screening for G6PD deficiency in preterm infants should be taken seriously. It is recommended to apply cold-chain transportation of samples in summer to reduce the false positive rate of primary screening for G6PD deficiency. Genetic tests should be promoted in girls with positive screening results to improve the detection rate of G6PD deficiency in preterm female infants. There are various types of gene mutations in preterm infants with G6PD deficiency in Chengdu, and infants with c.1024C>T mutation tend to have mild conditions.

Objective To study the efficacy and safety of continuous renal replacement therapy (CRRT) in the treatment of neonates with inherited metabolic diseases and hyperammonemia. Methods A retrospective analysis was performed on the medical records of neonates with inherited metabolic diseases and hyperammonemia who were hospitalized and underwent CRRT in the Department of Neonatology, Hunan Children’s Hospital, from September 2016 to March 2020, including general conditions, clinical indices, laboratory markers, and adverse reactions. Results A total of 11 neonates were enrolled, with 7 boys (64%) and 4 girls (36%). The neonates had a mean gestational age of (38.9±0.8) weeks, a mean body weight of (3 091±266) g on admission, and an age of (5.7±2.0) days at the time of CRRT. The main clinical manifestations were vomiting (100%), convulsions (100%), and coma (55%), and the main primary disease was urea cycle disorder (55%). The mean duration of CRRT was (44±14) hours, the medium duration of coma before CRRT was 2 hours, and the total duration of coma was 10 hours. The patients had a mean hospital stay of (18±10) days and a survival rate of 73%, and 2 survivors had epilepsy. After treatment, all patients had significant reductions in blood ammonia, lactic acid, and K⁺ concentration (P < 0.001) and a significant increase in pH (P < 0.001). The incidence rate of adverse reactions was 27%. Conclusions CRRT is safe and effective in the treatment of neonates with inherited metabolic diseases and hyperammonemia.

Objective To study the influence of placental pathological chorangiosis in the mother on the mortality of neonates and the incidence rate of complications. Methods A retrospective analysis was performed for the neonates who were hospitalized within 3 days after birth in the Department of Neonatology, Xiamen Maternal and Child Health Hospital, from July 2016 to February 2020. According to whether the placental pathology showed chorangiosis, the neonates were divided into an observation group and a control group (n=450 each). The two groups were analyzed in terms of general status, maternal comorbidities during pregnancy, neonatal mortality, and incidence rate of complications in neonates. Results Compared with the control group, the observation group had a significantly higher cesarean section rate (P < 0.05) and a significantly higher incidence rate of maternal gestational hypertension (P < 0.05). The observation group had significantly higher incidence rates of congenital malformation, small-for-gestational-age birth, and low Apgar score than the control group (P < 0.05). The observation group also had significantly higher mortality rate and incidence rates of brain injury, retinopathy of prematurity, and extrauterine growth retardation (P < 0.05). Conclusions Neonates born to mothers with placental pathological chorangiosis tend to have a higher morbidity rate and incidence rate of complications. It is important to improve the understanding of chorangiosis and provide intervention as soon as possible, in order to reduce complications and improve prognosis.

Objective To study brainstem auditory evoked potential (BAEP) in neonates with hyperbilirubinemia using short auditory stimuli (60 dBnHL), and to investigate the differences in the inter-aural latency difference (ILD) of wave V between neonates with different total serum bilirubin (TSB) levels. Methods A prospective study was conducted in neonates with hyperbilirubinemia who were admitted to the Department of Neonatology, Yuhuan People's Hospital of Zhejiang Province, from May 2019 to October 2020. The neonates were divided into a severe group (n=50) and a mild group (n=50) according to their TSB levels. The mild group was divided into two subgroups: 7-10 days (n=20) and 11-14 days (n=20) according to their age. ILD was compared between the neonates with different TSB levels, and its diagnostic value was analyzed. Results Compared with the mild group, the severe group had significantly higher proportions of neonates with abnormal hearing threshold and abnormal ILD (P < 0.05) and a significantly larger ILD of wave V (P < 0.05). The latency of wave V (left ear) in the 7-10 days subgroup was significantly longer than that in the 11-14 days subgroup (P < 0.05), but there was no significant difference in the ILD of wave V between the two groups (P > 0.05). The receiver operating characteristic (ROC) analysis showed that ILD had predictive value for hearing impairment caused by neonatal hyperbilirubinemia (P < 0.05), with an area under the ROC curve of 0.727 as well as a sensitivity of 52.4% and a specificity of 90.9% at the optimal cut-off value of 0.365 ms. Conclusions Serum bilirubin in neonates affects the ILD of BAEP wave V, especially in those with severe hyperbilirubinemia. ILD at the optimal cut-off value of ≥0.4 ms shows potential value in the diagnosis of hearing impairment caused by neonatal hyperbilirubinemia.

Objective To investigate the risk factors for congenital hypothyroidism (CH) in neonates, and to provide a reference for the prevention of CH. Methods The databases including China Biomedical Literature Service System, China National Knowledge Infrastructure, Wanfang Data, and Weipu Periodical Database, PubMed, Web of Science, Embase, SpringerLink, and Elsevier/ScienceDirect were searched for studies on the risk factors for CH in neonates published up to August 1, 2020. R 3.6.2 and RevMan 5.3 software were used to perform a Meta analysis. Results A total of 20 studies were included, with 13 case-control studies and 7 cross-sectional studies. There were 11 564 neonates in total, with 3 579 neonates in the case group and 7 985 neonates in the control group. The Meta analysis showed that advanced maternal age (OR=2.111, 95%CI: 1.275-3.493), thyroid disease during pregnancy (OR=3.365, 95%CI: 1.743-6.500), gestational diabetes mellitus (OR=2.158, 95%CI: 1.545-3.015), anxiety (OR=3.375, 95%CI: 2.133-5.340), medication during pregnancy (OR=2.774, 95%CI: 1.344-5.725), radiation exposure during pregnancy (OR=3.262, 95%CI: 1.950-5.455), family history of thyroid disease (OR=8.706, 95%CI: 5.991-12.653), low birth weight (OR=2.674, 95%CI: 1.895-3.772), fetal macrosomia (OR=1.657, 95%CI: 1.187-2.315), preterm birth (OR=2.567, 95%CI: 2.070-3.183), post-term birth (OR=2.083, 95%CI: 1.404-3.091), twin pregnancy or multiple birth (OR=3.455, 95%CI: 1.958-6.096), and birth defects (OR=6.038, 95%CI: 3.827-9.525) were risk factors for CH in neonates. Conclusions Advanced maternal age, gestational thyroid disease, gestational diabetes mellitus, anxiety, medication during pregnancy, radiation exposure during pregnancy, family history of thyroid disease, low birth weight, fetal macrosomia, preterm birth, post-term birth, twin pregnancy or multiple pregnancy, and birth defects may increase the risk of CH in neonates.

Objective To study the change and significance of serum pentraxin-3 (PTX-3) and syndecan-4 in children with chronic heart failure (CHF). Methods A total of 40 children with CHF who were admitted to the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University were enrolled as the heart failure group, and 30 children who underwent physical examination in the outpatient service during the same period of time were enrolled as the control group. The serum levels of PTX-3, syndecan-4, and N-terminal pro-brain natriuretic peptide (NT-proBNP) were compared between the two groups. Results The children with CHF had significant reductions in the serum levels of PTX-3, syndecan-4, and NT-proBNP after treatment. The levels of these markers in children with CHF were significantly higher than the control group before and after treatment (P < 0.05). The CHF children with grade II/III/IV cardiac function had significantly higher serum levels of PTX-3 and syndecan-4 than the control group (P < 0.05). The levels of PTX-3 and syndecan-4 were related to the severity of cardiac function. Compared with the grade II cardiac function group, the grade IV cardiac function group had significant increases in the serum levels of PTX-3 and syndecan-4 (P < 0.05). The serum level of PTX-3 was positively correlated with that of syndecan-4 in children with CHF (r_s=0.999, P < 0.05); the serum level of PTX-3 was positively correlated with NT-proBNP, left ventricular mass index (LVMI), and cardiac function grade (r_s=0.726, 0.736, and 0.934 respectively, P < 0.05) and was negatively correlated with left ventricular ejection fraction (LVEF) and left ventricular fractional shortening (LVFS) (r_s=-0.852 and -0.767 respectively, P < 0.05); the serum level of syndecan-4 was positively correlated with NT-proBNP, LVMI, and cardiac function grade (r_s=0.733, 0.743, and 0.934 respectively, P < 0.05) and was negatively correlated with LVEF and LVFS (r_s=-0.856 and -0.771 respectively, P < 0.05). Conclusions Serum PTX-3 and syndecan-4 may be involved in the development and progression of ventricular remodeling in children with CHF and may be used as markers for the diagnosis, cardiac function grading, and treatment outcome evaluation of children with heart failure.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome (ROHHADS) is a rare multi-system disease, and delayed diagnosis and treatment may lead to catastrophic cardiopulmonary complications. As far as we know, no patient with ROHHADS has been reported in China, and this article reports a child with ROHHADS to improve the awareness of this disease among clinicians. A girl, aged 3 years, had the clinical manifestations of rapid weight gain, fever, disturbance of consciousness, and convulsion. The physical examination showed a body weight of 20 kg, somnolence, irregular breathing, and stiff neck. She had increased blood levels of prolactin and follicle-stimulating hormone and hyponatremia. The lumbar puncture showed an increased intracranial pressure. The brain MRI and magnetic resonance venography showed symmetrical lesions in the periventricular region and venous thrombosis in the right transverse sinus and the superior sagittal sinus. The sleep monitoring showed hypopnea. The girl was finally diagnosed with ROHHADS and intracranial venous thrombosis. She recovered after symptomatic treatment including decreasing intracranial pressure, anticoagulation, and respiratory support. The possibility of ROHHADS should be considered for patients with unexplained obesity, fever, and hypoventilation, with or without central nervous system symptoms. Early diagnosis and standardized follow-up can improve the prognosis of children with ROHHADS.

A boy, aged 3 years and 8 months, had recurrent thrombocytopenia with hemolytic anemia for more than 3 years. The physical examination showed no enlargement of the liver, spleen, and lymph nodes or finger deformities. Laboratory results showed a negative result of the direct antiglobulin test, normal coagulation function, and increases in bilirubin, lactate dehydrogenase and reticulocytes. The results of von Willebrand factor-cleaving protease ADAMTS13 activity assay showed extreme deficiency, and antibody assay showed negative ADAMTS13 inhibitory autoantibodies. Next-generation sequence showed compound heterozygous mutation in the ADAMTS13 gene. The boy was diagnosed with congenital thrombotic thrombocytopenic purpura. This disease may be easily misdiagnosed as Evans syndrome and is difficult to diagnose in clinical practice. The child had developed the disease since birth, but it took 3 years to make a confirmed diagnosis. Therefore, congenital thrombotic thrombocytopenic purpura should be considered for children with jaundice at birth, recurrent thrombocytopenia with hemolytic anemia, and negative results of the direct antiglobulin test. The detection of ADAMTS13 activity and ADAMTS13 inhibitory autoantibodies should be performed as soon as possible for a definite diagnosis, and gene detection should be performed to make a confirmed diagnosis when necessary.

Coronavirus disease 2019 (COVID-19) has become a worldwide pandemic and can occur at any age, including children. Children with COVID-19 can develop the clinical symptoms of multiple systems, among which symptoms of the nervous system have been reported increasingly, and thus it is particularly important to understand COVID-19-associated neurological damage in children. This article reviews the mechanisms and types of COVID-19-associated neurological damage in children.

Neonatal hypoxic-ischemic brain damage (HIBD) remains an important cause of neonatal death and disability in infants and young children, but it has a complex mechanism and lacks specific treatment methods. As a new type of programmed cell death, ferroptosis has gradually attracted more and more attention as a new therapeutic target. This article reviews the research advances in abnormal iron metabolism, glutamate antiporter dysfunction, and abnormal lipid peroxide regulation which are closely associated with ferroptosis and HIBD.

Bronchopulmonary dysplasia (BPD) has the main manifestations of pulmonary edema in the early stage and characteristic alveolar obstruction and microvascular dysplasia in the late stage, which may be caused by structural and functional destruction of the lung epithelial barrier. The Claudin family is the main component of tight junction and plays an important role in regulating the permeability of paracellular ions and solutes. Claudin-18 is the only known tight junction protein solely expressed in the lung. The lack of Claudin-18 can lead to barrier dysfunction and impaired alveolar development, and the knockout of Claudin-18 can cause characteristic histopathological changes of BPD. This article elaborates on the important role of Claudin-18 in the development and progression of BPD from the aspects of lung epithelial permeability, alveolar development, and progenitor cell homeostasis, so as to provide new ideas for the pathogenesis and clinical treatment of BPD.