Evidence-Based Medicine Group , Neonatologist Society , Chinese Medical Doctor Association
2021(3):201-212.
Abstract:Peripherally inserted central catheter (PICC) has been widely used in the neonatal intensive care unit (NICU) in recent years, but there are potential risks for complications related to PICC. Based on the current evidence in China and overseas, the operation and management guidelines for PICC in neonates were developed by the Grading of Recommendations Assessment, Development and Evaluation (GRADE) in order to help the NICU staff to regulate the operation and management of PICC.
MU Zhi-Long , JIAO Fu-Yong , XIE Kai-Sheng
2021(3):213-220.
Abstract:Kawasaki disease is the main cause of acquired heart disease in children.The cardiovascular sequelae of Kawasaki disease,such as coronary artery lesion and giant coronary aneurysm,have a great impact on children's physical and mental health.The Japanese Circulatory Society and the Japanese Society of Cardiac Surgery jointly released the JCS/JSCS 2020 guideline on diagnosis and management of cardiovascular sequelae in Kawasaki disease in July,2020,which systematically introduces the advances in the diagnosis and management of cardiovascular sequelae of Kawasaki disease.The article gives an interpretation in the severity evaluation of Kawasaki disease and diagnosis,treatment and long-term management of cardiovascular sequelae in the guideline.
XING Kai , TU Xiao-Yan , LIU Miao , LIANG Zhang-Wu , CHEN Jiang-Nan , LI Jiao-Jiao , JIANG Li-Guo , XING Fu-Qiang , JIANG Yi
2021(3):221-228.
Abstract:Objective To evaluate systematically the efficacy and safety of COVID-19 vaccines.Methods PubMed,Embase,Cochrane Library,Clinicaltrial.gov,CNKI,Wanfang Data,China Biomedical Literature Service System,and China Clinical Trial Registry were searched for randomized controlled trials of COVID-19 vaccines published up to December 31,2020.The Cochrane bias risk assessment tool was used to assess the quality of studies.A qualitative analysis was performed on the results of clinical trials.Results Thirteen randomized,blinded,controlled trials,which involved the safety and efficacy of 11 COVID-19 vaccines,were included.In 10 studies,the 28-day seroconversion rate of subjects exceeded 80%.In two 10000-scale clinical trials,the vaccines were effective in 95%and 70.4%of the subjects,respectively.The seroconversion rate was lower than 60%in only one study.In six studies,the proportion of subjects who had an adverse reaction within 28 days after vaccination was lower than 30%.This proportion was 30%-50%in two studies and>50%in the other two studies.Most of the adverse reactions were mild to moderate and resolved within 24 hours after vaccination.The most common local adverse reaction was pain or tenderness at the injection site,and the most common systemic adverse reaction was fatigue,fever,or bodily pain.The immune response and incidence of adverse reactions to the vaccines were positively correlated with the dose given to the subjects.The immune response to the vaccines was worse in the elderly than in the younger population.In 6 studies that compared single-dose and double-dose vaccination,4 studies showed that double-dose vaccination produced a stronger immune response than single-dose vaccination.Conclusions Most of the COVID-19 vaccines appear to be effective and safe.Double-dose vaccination is recommended.However,more research is needed to investigate the long-term efficacy and safety of the vaccines and the influence of dose,age,and production process on the protective efficacy.
LIN Hui-Jia , SHEN Xiao-Xia , NI Ying-Hua , MA Xiao-Lu , SHI Li-Ping , DU Li-Zhong
2021(3):229-235.
Abstract:Objective To study the clinical effect of multi-oil fat emulsion for parenteral nutrition support in extremely low birth weight (ELBW) infants. Methods A retrospective analysis was performed for 49 ELBW infants who were admitted from January 1, 2018 to July 30, 2020, with an age of ≤14 days on admission and a duration of parenteral nutrition of > 14 days. According to the type of lipid emulsion received, the ELBW infants were divided into two groups: soybean oil, medium-chain triglycerides, olive oil, and fish oil (SMOF) (n=26) and medium-chain triglycerides/long-chain triglycerides (MCT/LCT) (n=23). The two groups were compared in terms of clinical features, complications, nutrition support therapy, and outcome. Results The 49 ELBW infants had a mean birth weight of (892±83) g and a mean gestational age of (28.2±2.3) weeks. There was no significant difference between the two groups in the incidence rates of hemodynamically significant patent ductus arteriosus, intraventricular hemorrhage, neonatal necrotizing enterocolitis, retinopathy of prematurity, bronchopulmonary dysplasia (BPD), grade Ⅲ BPD, sepsis, and pneumonia (P > 0.05). There was also no significant difference in the duration of parenteral nutrition, the age of total enteral nutrition, and head circumference/body length/body weight at discharge between the two groups (P > 0.05). Of all the infants, 22 (45%) had parenteral nutrition-associated cholestasis (PNAC), with 13 (50%) in the SMOF group and 9 (39%) in the MCT/LCT group but there was no significant difference in the incidence of PNAC between the two groups (P > 0.05); however, the infants with PNAC in the SMOF group had significantly lower peak values of direct bilirubin and alanine aminotransferase than those in the MCT/LCT group (P < 0.05). Conclusions The application of multi-oil fat emulsion in ELBW infants does not reduce the incidence rate of complications, but compared with MCT/LCT emulsion, SMOF can reduce the severity of PNAC in ELBW infants.
KONG Juan , LIANG Shao-Zhen , CHEN Hai-Feng , LIN Yuan-Qing , CUI Qi-Liang , WU Fan
2021(3):236-241.
Abstract:Objective To study the effect of weight growth velocity in the early stage after birth on the neurodevelopment of preterm infants at the corrected age of 12 months. Methods Related data were collected from the preterm infants who were discharged from the Department of Neonatology, Third Affiliated Hospital of Guangzhou Medical University, from July 1, 2015 to December 31, 2019 and were followed up at the outpatient service of high-risk infants. According to the weight growth velocity from birth to the corrected gestational age of 40 weeks, the infants were divided into two groups: low velocity [< 10 g/(kg·d); n=21] and high velocity [≥10 g/(kg·d); n=87]. At the corrected ages of 3, 6, and 12 months, Gesell Developmental Schedules were used to evaluate and compare neurodevelopment between the two groups. Results At the corrected age of 12 months, the low velocity group had a significantly lower score of fine motor (P < 0.05) and a significantly higher abnormal rate of language ability score compared with high velocity (P < 0.05). For the preterm infants with a birth weight of < 1 500 g or ≥1 500 g, the low velocity group had a significantly lower score of fine motor than the high velocity group (P < 0.05); for the preterm infants with a birth weight of ≥1 500 g, the low velocity group had a significantly higher abnormal rate of language ability score than the high velocity group (P < 0.05). Conclusions The weight growth velocity from birth to the corrected age of 40 weeks affects the development of fine motor and language in preterm infants at the corrected age of 12 months; however it needs to be further verified by large-sample studies.
ZHANG Yi-Min , SHAO Shu-Ming , ZHANG Xiao-Rui , LIU Jie , ZENG Chao-Mei
2021(3):242-247.
Abstract:Objective To study the perinatal complications of late preterm twins(LPTs)versus early term twins(ETTs).Methods A retrospective analysis was performed for the complications of 246 LPTs,496 ETTs,and their mothers.The risk factors for late preterm birth were analyzed.According to gestational age,the twins were divided into five groups:34-34+6 weeks(n=44),35-35+6 weeks(n=70),36-36+6 weeks(n=132),37-37+6 weeks(n=390),and 38-38+6 weeks(n=106).The perinatal complications were compared between groups.Results Maternal hypertension,maternal thrombocytopenia,placenta previa,and premature rupture of membranes were independent risk factors for late preterm birth in twins(P<0.05).The LPT group had higher incidence rates of respiratory diseases,feeding intolerance,and hypoglycemia than the ETT group(P<0.05).The 34-34+6 weeks group had a higher incidence rate of neonatal asphyxia than the 37-37+6 weeks and 38-38+6 weeks groups;and had a higher incidence rate of septicemia than 36-36+6 weeks group(P<0.0045).The 34-34+6 weeks and 35-35+6 weeks groups had higher incidence rates of neonatal respiratory distress syndrome,neonatal apnea,and anemia than the other three groups;and had higher incidence rates of neonatal pneumonia,hypoglycemia and septicemia than the 37-37+6 weeks and 38-38+6 weeks groups(P<0.0045).The 35-35+6 weeks group had a higher incidence rate of feeding intolerance than the 36-36+6 weeks,37-37+6 weeks,and 38-38+6 weeks groups(P<0.0045).The 36-36+6 weeks group had a lower incidence rate of hypoglycemia than the 34-34+6 weeks group and a higher incidence rate of hypoglycemia than the 37-37+6 weeks group(P<0.0045).Conclusions Compared with ETTs,LPTs have an increased incidence of perinatal complications.The incidence of perinatal complications is associated with gestational ages in the LPTs and ETTs.
DING Ran , CHEN Qiang , ZHANG Qian-Wei , SUN Qi-Bin , WANG Dai-Jing , SHAN Ruo-Bing
2021(3):248-253.
Abstract:Objective To study the association of different stages of histological chorioamnionitis (HCA) with the incidence rate and severity of respiratory distress syndrome (RDS) in preterm infants. Methods Related data were collected from the infants and their mothers who were treated in the Neonatal Intensive Care Unit of Qingdao Women and Children's Hospital, Qingdao University, from January 2018 to June 2020. According to the presence or absence of HCA and its stage, the infants were divided into four groups: control (n=109), early-stage HCA (n=126), middle-stage HCA (n=105), and late-stage HCA (n=36). The four groups were compared in terms of gestational age, birth weight, sex, maternal age, placental abruption, prenatal use of antibiotics, and incidence rate of RDS. The correlation between HCA stage and RDS severity was analyzed. Results Compared with the control and late-stage HCA groups, the early-stage HCA group had a significantly lower incidence rate of placental abruption and a significantly higher rate of prenatal use of antibiotics (P < 0.05), and the early-stage HCA group had a significantly lower incidence rate of RDS than the control group (P < 0.05). The multivariate logistic regression analysis showed that early-, middle-, and late-stage HCA were protective factors against RDS (P < 0.05). The Spearman test showed that the severity of RDS in preterm infants was not correlated with the HCA stage (P > 0.05). Conclusions Early-, middle-, and late-stage HCA can reduce the incidence rate of RDS in preterm infants. HCA stage may not be correlated with RDS severity in preterm infants, which needs to be verified by further research.
LI Ting , ZHU Li-Min , ZHANG Yan-Ping , KONG Xiang-Yong , XU Hai-Bin
2021(3):254-258.
Abstract:Objective To study the clinical features of very preterm small-for-gestational-age infants born by cesarean section due to severe preeclampsia. Methods Forty-two small-for-gestational-age infants who were admitted from August 2017 to July 2018 and were born due to severe preeclampsia were enrolled as the observation group. Forty very preterm infants who were born to healthy mothers since uterine contractions could not be suppressed were enrolled as the control group. Perinatal features, clinical manifestations of infection, complications, and clinical outcomes were analyzed for the two groups. Results Within 6 hours and 2-3 days after birth, the observation group had significantly lower white blood cell count (WBC), absolute neutrophil count (ANC), and platelet count (PLT) than the control group (P < 0.05). At 5-7 days after birth, there was no significant difference in WBC between the two groups (P > 0.05), while the observation group still had significantly lower ANC and PLT than the control group (P < 0.05). The observation group had a significantly higher C-reactive protein (CRP) level than the control group at 2-3 days and 5-7 days after birth (P < 0.05). The observation group had a significantly higher proportion of infants with severe infections than the control group (P < 0.05). The observation group had a significantly higher hemoglobin level than the control group within 6 hours after birth (P < 0.05). The observation group had a significantly higher incidence rate of bronchopulmonary dysplasia than the control group (P < 0.05). There was no significant difference between the two groups in the rate of pulmonary hemorrhage, intracranial hemorrhage, neonatal necrotizing enterocolitis, retinopathy of prematurity, and the rate of use of invasive ventilation, and clinical outcomes (P > 0.05). Conclusions Very preterm small-for-gestational-age infants born due to severe preeclampsia have a high incidence rate of infection and severe conditions. Early manifestations include reductions in the infection indicators WBC, ANC, and PLT, and CRP does not increase significantly in the early stage and gradually increases at 2-3 days after birth. Most of these infants require invasive ventilation after birth, with bronchopulmonary dysplasia as the main complication. Clinical changes should be closely observed and inflammatory indicators should be monitored for early identification of infection, timely diagnosis, and timely adjustment of antibiotic treatment, so as to improve the outcome.
ZHANG Ya-Hui , LIU Yun-Feng , TONG Xiao-Mei , LU Dan-Fang , SHI Shi
2021(3):259-264.
Abstract:Objective To study the clinical features of pericardial effusion caused by central venous catheterization in preterm infants.Methods A retrospective analysis was performed on 11 preterm infants with pericardial effusion caused by central venous catheterization.Their catheterization features,manifestations,treatment,and prognosis were analyzed.Results A total of 11 preterm infants(11/2599,0.42%)developed pericardial effusion,with a mean gestational age of(30.1±2.6)weeks and a mean birth weight of(1240±234)g.Pericardial effusion mostly occurred within 4 days after central venous catheterization(10 cases,91%).The main manifestations included poor response(6/11,55%),cyanosis(5/11,45%),increased respiratory rate(6/11,55%),increased heart rate(6/11,55%),aggravated dyspnea(5/11,45%),and muffled heart sound(5/11,45%).At the time of disease progression,7 preterm infants(64%)had a deep position of the end of the catheter,3 preterm infants(27%)had a correct position,and 1 preterm infant(9%)had a shallow position.Five preterm infants(45%)experienced cardiac tamponade,among whom 4 underwent pericardiocentesis.Seven preterm infants were given conservative medical treatment.Among the 11 children,2(18%)died and 9(82%)improved.Conclusions Pericardial effusion caused by central venous catheterization mostly occurs in the early stage of catheterization and has critical clinical manifestations.Pericardiocentesis is required for cardiac tamponade,and early diagnosis and intervention can effectively improve prognosis.
LIU Xin , FENG Yong , SHANG Yun-Xiao
2021(3):265-270.
Abstract:Objective To study the correlation between the bronchial dilation test(BDT)and asthma control level in children with asthma.Methods A total of 153 children with asthma,aged 5-14 years,who attended the outpatient service from March 2016 to March 2018 were enrolled.According to the presence or absence of atopic constitution,they were divided into an allergic group with 79 children and a non-allergic group with 74 children.The correlation between BDT and Childhood Asthma Control Test(C-ACT)scores was analyzed for both groups.Results All basic pulmonary function parameters were positively correlated with C-ACT scores in the non-allergic group(P<0.05).Except the forced vital capacity,peak expiratory flow and maximal expiratory flow at 25%vital capacity in percent predicted values,the other pulmonary function parameters were positively correlated with C-ACT scores in the allergic group(P<0.05).The improvement rates of all BDT parameters(except maximal expiratory flow at 25%vital capacity in the allergic group and maximal expiratory flow at 50%vital capacity in the non-allergic group)were negatively correlated with C-ACT scores in the two groups(P<0.05).Conclusions The improvement rate of BDT is well correlated with C-ACT scores in children with asthma,suggesting that BDT can be used as an index for predicting asthma control level.
HAN Ting-Ting , GONG Xiao-Wen , ZHANG Ran-Ran , RUAN Min , GUO Ye , ZHANG Li , ZOU Yao , CHEN Yu-Mei , ZHU Xiao-Fan , YANG Wen-Yu
2021(3):271-278.
Abstract:Objective To study the clinical features and prognosis of childhood acute myeloid leukemia with myelodysplasia-related changes(AML-MRC).Methods A retrospective analysis was performed on the medical data of 14 children who were diagnosed with AML-MRC from June 2014 to March 2020,including clinical features,laboratory examination results,and prognosis.Results Among the 14 children with AML-MRC,there were 9 boys and 5 girls,with a median age of 11 years(range:1-17 years),a median leukocyte count of 8.3×109/L[range:(2.0-191.0)×109/L],a median hemoglobin level of 73 g/L(range:44-86 g/L),and a median platelet count of 75×109/L[range:(4-213)×109/L]at diagnosis.According to the FAB classification,the children with AML-M5 accounted for 71%(10/14).Among the 14 children,4 had multi-lineage dysplasia(MLD),2 had a history of myelodysplastic syndrome(MDS),5 had MDS-related cytogenetic changes,2 had MLD with MDS-related cytogenetic changes,and 1 had a history of MDS with MLD.The median follow-up time was 10.6 months(range:0.4-54.4 months)for 14 children,among whom 2 gave up treatment immediately after diagnosis and 12 had an evaluable treatment outcome.The 2-year overall survival(OS)rate was 50%±15%,and the 2-year disease-free survival(DFS)rate was 33%±13%.Of the 12 children,7 underwent haploidentical hematopoietic stem cell transplantation(HSCT),among whom 5 achieved DFS and 2 died,with a 2-year OS rate of 71%±17%and a 2-year DFS rate of 43%±19%;5 children underwent chemotherapy alone,among whom 1 achieved DFS,3 died,and 1 was lost to follow-up,with a 2-year OS rate of 40%±30%and a 2-year DFS rate of 30%±24%.There was no significant difference in the survival condition between the transplantation and chemotherapy groups(P>0.05).Conclusions Childhood AML-MRC is often observed in boys,and AML-M5 is the most common type based on FAB classification.Such children tend to have a poor prognosis.HSCT is expected to improve the poor prognosis of children with AML-MRC.However due to the small number of cases,it is necessary to increase the number of cases for further observation.
SHEN Meng , PAN Xin-Yue , ZHUANG Jie-Qiu , WANG De-Xuan , CAI Hui
2021(3):279-282.
Abstract:Objective To study the clinical features of vesicoureteral reflux(VUR)in children with neurogenic bladder(NB),and to provide a reference for its early diagnosis and treatment.Methods Clinical data were collected from 26 children with NB and urinary tract infection who were admitted to the Department of Pediatric Nephrology from January 2014 to December 2019.According to the presence or absence of VUR,the children were divided into a VUR group with 11 children and a non-VUR group with 15 children.Clinical features were compared between the two groups.Results Compared with the non-VUR group,the VUR group had a significantly higher proportion of children with non-Escherichia coli urinary tract infection,hydronephrosis(the severity of hydronephrosis increased with the grade of VUR),abnormal 99mTc-DMSA renal scanning findings,elevated ratios of urinary albumin,urinary IgG and urinary transferrin to creatinine,increased residual urine volume,and increased detrusor leak point pressure(P<0.05).Conclusions When NB children have the clinical manifestations of non-Escherichia coli urinary tract infection,hydronephrosis,abnormal 99mTc-DMSA renal scanning findings,glomerular proteinuria,increased bladder residual urine volume,and high detrusor leak point pressure,such children may already have VUR,and so diagnosis and intervention should be performed as early as possible.
WANG Bei-Bei , KAN Qing , ZOU Yun-Su , CHENG Rui , ZHOU Xiao-Guang
2021(3):283-287.
Abstract:A healthy full-term female neonate, aged 3 days and born by vaginal delivery (with a 1-minute Apgar score of 10 and a 5-minute Apgar score of 10), had unexpected cardiac and respiratory arrests in the early morning on day 3 after birth and recovered to spontaneous breathing and heartbeat after a 10-minute resuscitation. The child had poor response and convulsion after resuscitation. Blood gas analysis showed metabolic acidosis, and amplitude-integrated EEG showed a burst-suppression pattern. She was diagnosed with sudden unexpected postnatal collapse but improved after hypothermia and symptomatic/supportive treatment. This article reports the first case of sudden unexpected postnatal collapse in China and summarizes related risk factors, pathophysiological mechanisms, and preventive and treatment measures of this disorder.
ZHANG Juan , TONG Xiao-Mei , WANG Xue-Mei , XING Yan
2021(3):288-293.
Abstract:A girl,aged 15 years,was admitted due to sudden convulsion once and multiple pulmonary nodules on lung CT.Acrocyanosis or acropachy/toe deformity was not observed.Laboratory examinations showed an increase in hemoglobin(162 g/L)and a reduction in arterial partial pressure of oxygen(61.5 mm Hg).Lung CT showed irregular slightly high-density nodules in the middle lobe of the right lung,and contrast-enhanced CT scan showed obvious enhancement with thick vascular shadow locally.An investigation of medical history revealed that the girl's mother had a history of epistaxis and resection of pulmonary mass and the girl presented with tongue telangiectasia.The girl was diagnosed with hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformation.she was given interventional embolization therapy.Transcutaneous oxygen saturation reached 98%without oxygen inhalation on the day after surgery.Pulmonary angiography at 3 months after surgery showed the recurrence of pulmonary vascular malformation,and embolization of pulmonary arterial fistula was not performed since the guide wire could not enter the branch artery.There was still a need for long-term follow-up.
BAI Yu-Wei , GUAN Meng-Long , ZHENG Tao , LI Shi-Ping , QU Yi , MU De-Zhi
2021(3):294-299.
Abstract:Objective To study the role and mechanism of histone deacetylase 1(HDAC1)and histone deacetylase 2(HDAC2)in mouse neuronal development.Methods The mice with Synapsin1-Cre recombinase were bred with HDAC1&2flox/flox mice to obtain the mice with neuron-specific HDAC1&2 conditional knockout(knockout group),and their littermates without HDAC1&2 knockout were used as the control group.The general status of the mice was observed and survival curves were plotted.Brain tissue samples were collected from the knockout group and the control group.Western blot and immunohistochemistry were used to measure the protein expression of related neuronal and axonal markers,neuronal nuclear antigen(NeuN),non-phosphorylated neurofilament heavy chain(np-NF200),and phosphorylated neurofilament heavy chain(p-NF200),as well as the downstream effector of the mTOR signaling pathway,phosphorylated S6 ribosomal protein(p-S6).Results The mice with HDAC1&2 conditional knockout usually died within one month after birth and were significantly smaller than those in the control group,with motor function abnormalities such as tremor and clasping of hindlimbs.Compared with the control group,the knockout group had significant reductions in the protein expression levels of NeuN,np-NF200,p-NF200,and p-S6(P<0.05;n=3).Conclusions Deletion of HDAC1 and HDAC2 in mouse neurons results in reduced neuronal maturation and axonal dysplasia,which may be associated with the mTOR signaling pathway.
MA Rui , MA Yu-Hui , ZHANG Xin-Yue , GENG Yin , CHEN Lan-Fen , ZHANG Xue-Ning , WANG Xiao-Li
2021(3):300-305.
Abstract:Objective To study the effect of different melatonin treatment regimens on long-term behavior and white matter damage in neonatal rats with hypoxic-ischemic brain damage (HIBD), and to seek an optimal melatonin treatment regimen. Methods Healthy Sprague-Dawley rats, aged 7 days, were randomly divided into four groups: sham-operation, HIBD, single-dose immediate treatment (SDIT), and 7-day continuous treatment (7DCT), with 8 rats in each group. A neonatal rat model of HIBD was prepared according to the classical Rice-Vannucci method. On day 21 after HIBD, the Morris water maze test was used to evaluate spatial learning and memory abilities. On day 70 after HIBD, immunofluorescence assay was used to measure the expression of neuronal nuclear antigen (NeuN) in the cerebral cortex and the hippocampal CA1 region of neonatal rats, and double-label immunofluorescence was used to measure the expression of myelin basic protein (MBP) and neurofilament 200 (NF200) in the corpus striatum and the corpus callosum. Results The results of the Morris water maze test showed that the SDIT and 7DCT groups had a significantly shorter mean escape latency than the HIBD group, and the 7DCT group had a significantly shorter mean escape latency than the SDIT group (P < 0.05). The results of immunofluorescence assay for NeuN showed that the SDIT and 7DCT groups had a significantly higher number of NeuN+ cells in the cerebral cortex and the hippocampal CA1 region than the HIBD group, and the 7DCT group had a significantly higher number than the SDIT group (P < 0.05). MBP/NF200 double-label immunofluorescence showed that compared with the HIBD group, the SDIT group and the 7DCT group had significantly higher fluorescence intensities of MBP and NF200 in the corpus striatum, and the 7DCT group had significantly higher fluorescence intensities than the SDIT group (P < 0.05); the 7DCT group had significantly higher fluorescence intensities of MBP and NF200 in the corpus callosum than the SDIT and HIBD groups (P < 0.05). Conclusions Both SDIT and 7DCT can improve long-term behavior and reduce white matter damage in neonatal rats with HIBD, and 7DCT is more effective than SDIT.
2021(3):306-309.
Abstract:This is a case report on a 1-day-old male neonate admitted due to a weak cry for 1 day and recurrent circumoral cyanosis for 2 hours. He had unusual facial features at birth, with a single transverse palmar crease on both hands, flat feet, weak cry, feeding difficulties, congenital heart disease, and abnormality on cerebral MRI. Whole exome sequencing showed a de novo mutation, c.778_781delAAAG(p.Lys260ValfsTer2), in exon 3 of the CTCF gene, which was considered a pathogenic mutation by protein function prediction and might damage the function of CTCF protein. He was diagnosed with autosomal dominant intellectual disability type 21 based on the clinical manifestations and genetic analysis results. This case suggests that genetic analysis should be performed as early as possible for neonates with feeding difficulties which cannot be explained by infection or hypoxia, so as to help with early diagnosis and genetic counselling.
2021(3):310-314.
Abstract:Irritable bowel syndrome(IBS)is a common functional gastrointestinal disease in children and has the clinical manifestations of recurrent abdominal pain with the changes in defecation frequency or stool form.Many studies have shown that children with IBS have a significantly lower vitamin D level than the healthy population,and vitamin D supplementation can significantly improve the clinical symptoms and quality of life of the children,suggesting that vitamin D supplementation may play a role in the treatment of IBS.This article reviews the association between vitamin D and IBS in children and elaborates on the possible mechanism of action of vitamin D.
2021(3):315-318.
Abstract:Neural development is regulated by both external environment and internal signals,and in addition to transcription factors,epigenetic modifications also play an important role.By focusing on the genetic mechanism of ATP-dependent chromatin remodeling in children with neurodevelopmental disorders,this article elaborates on the effect of four chromatin remodeling complexes on neurogenesis and the development and maturation of neurons and neuroglial cells and introduces the clinical research advances in neurodevelopmental disorders.