Top Read Articles

Published in last 1 year |

In last 2 years |

In last 3 years |

All

Please wait a minute...


For Selected: Download Citations EndNote Ris BibTeX Toggle Thumbnails

Select

Advances in molecular genetics of nephropathy associated with primary coenzyme Q10 deficiency WAN Ling, CHEN Chaoying Journal of Clinical Pediatrics    2022, 40 (1): 73-.   DOI: 10.12372/jcp.2022.21e0173 Abstract （1168）      PDF（pc） （1194KB）（169）       Knowledge map    Save Department of nephrology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020 , China) Related Articles | Metrics

Select

Combined oxidative phosphorylation deficiency-21: a case report and literature review ZOU Dongfang, WEN Feiqiu, LIAO Jianxiang Journal of Clinical Pediatrics    2021, 39 (9): 687-.   DOI: 10.3969/j.issn.1000-3606.2021.09.011 Abstract （1151）      PDF（pc） （1670KB）（152）       Knowledge map    Save Objective To explore the clinical features and molecular genetic characteristics of combined oxidative phosphorylation deficiency- 21 (COXPD 21 ). Method The clinical data of COXPD 21 in a child were retrospectively analyzed and the related literature was reviewed. Results A 6 -month-old boy had developmental retardation. Epilepsy began at 3 months of age and was manifested with focal seizures, spasms, and myoclonus. The convulsions aggravated after respiratory infections, accompanied by comma, cyanosis, breathlessness, low cardiac sound, hepatomegaly, muscular hypertonia of extremities. The laboratory examinations showed diffuse myocardial damage, severe acidosis and hyperlactic acidemia. Whole genome sequencing (WGS) revealed that the proband had compound heterozygous variations in the TARS 2 gene, c. 987 _ 988 insA and c. 470 C>G, both of which were new variations. The child was diagnosed with COXPD 21 and died at the age of 7 months. Conclusions COXPD 21 has an early onset and poor prognosis, and can lead to severe metabolic encephalopathy. It is caused by TARS2 gene variation. This is the first reported case of COXPD 21 confirmed by genetic testing in China. Related Articles | Metrics

Select

Journal of Clinical Pediatrics    2024, 42 (1): 1-14.   DOI: 10.12372/jcp.2024.23e1129 Abstract （1057）   HTML （75）    PDF（pc） （743KB）（1169）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics

Select

Expression and clinical essential of chemokines CCL3 and CCL4 in children with ITP CHEN Dongping, LUO Xi, HUANG Pei, GUO Yimin, WU Liusong, HE Zhixu, CHEN Yan Journal of Clinical Pediatrics    2022, 40 (2): 95-100.   DOI: 10.12372/jcp.2022.21e1233 Abstract （1009）   HTML （8）    PDF（pc） （1232KB）（158）       Knowledge map    Save Objective To investigate expression and clinical significance of chemokines CCL3 and CCL4 in childhood immune thrombocytopenia (ITP). Methods Children with ITP diagnosed in Affiliated Hospital of Zunyi Medical University from December 2019 to April 2020 were selected as study subjects, and were divided into newly diagnosed group (n=37, disease duration ≤3 months) and non-newly diagnosed group (n=27, disease duration >3 months) according to the disease duration, and into pre-treatment group (n=29) and post-treatment group (n=35) according to the timing of specimen collection (at the first diagnosis and 7th day of hospital admission); and healthy children with outpatient health examination were used as the control group, and the expression of CCL3 and CCL4 and platelet-related indexes were compared between different groups. Results A total of 64 children with ITP, 42 males and 22 females, with a median age of 5.1 (3.0-8.0) years, and 19 healthy controls, 12 males and 7 females, with a median age of 4.2 (2.8-6.0) years, were included. The differences in PLT counts, MPV, P-LCR, PDW, PCT, and IgG levels between the pre-treatment group, post-treatment group, and control group were statistically significant (P<0.05); PLT counts and PCT were lower and MPV, P-LCR, PDW, and IgG were higher in the pre-treatment group. CCL3 and CCL4 concentrations were higher in the newly diagnosed and non-newly diagnosed groups than in the control group, with statistically significant differences (P<0.05). The CCL3 and CCL4 concentrations were higher in the pre-treatment and post-treatment groups than in the control group, and the CCL3 and CCL4 concentrations were lower in the post-treatment group than in the pre-treatment group, with statistically significant differences (P<0.05). The differences in CCL3 and CCL4 expression between different bleeding score groups of ITP were statistically significant (P<0.05). The expression levels of CCL3 and CCL4 increased gradually with the increase of bleeding score. The CCL3 and CCL4 expression levels in the treatment ineffective group were higher than those in the complete response group and the response group, while the CCL3 and CCL4 expressions in the response group were lower than those in the complete response group, and the differences were statistically significant (P<0.05). Conclusion CCL3 and CCL4 can be used as children's molecular markers of ITP to assess its severity and response to treatment. Table and Figures | Reference | Related Articles | Metrics

Select

Diagnosis and treatment of hemorrhagic cystitis after hematopoietic stem cell transplantation HE Yunyan Journal of Clinical Pediatrics    2022, 40 (1): 8-.   DOI: 10.12372/jcp.2022.21e1628 Abstract （971）      PDF（pc） （1327KB）（939）       Knowledge map    Save Hemorrhagic cystitis (HC) is one of the common complications of allogeneic hematopoietic stem cell transplantation, which is the key point of transplantation prevention and treatment. This article introduces the etiology, pathogenesis, prevention and treatment of HC. The occurrence of HC is often related to the toxicity of high-dose radiotherapy and chemotherapy before transplantation, gene polymorphism of drug metabolism enzyme, viral infection, graft-versus-host disease, patient age, sex, donor type and transplantation method. Diagnosis of HC is not difficult, based on the history, typical clinical manifestations, and necessary auxiliary tests. Effective preventive measures are adequate hydration and alkalization of urine, diuresis and the application of Mesna. The treatment mainly includes antiviral therapy, immunotherapy, bladder irrigation, bladder perfusion, hyperbaric oxygen therapy and surgical treatment. Related Articles | Metrics

Select

Standardized treatment and management of immune thrombocytopenia in children ZHANG Aijun, LIU Qinqin, PU Ting Journal of Clinical Pediatrics    2022, 40 (2): 81-86.   DOI: 10.12372/jcp.2022.21e1625 Abstract （890）   HTML （53）    PDF（pc） （1289KB）（839）       Knowledge map    Save Immune thrombocytopenia (ITP) is the most common bleeding disorde characterized by isolated thrombocytopenia in children. It is mediated by a variety of autoimmune mechanisms. Children with ITP usually have acute onset. A considerable proportion of patients can be traced back to the history of precursor infection or vaccination, which can make them immune intolerant, resulting in the occurrence of ITP. There is strong heterogeneity of ITP in children. At present, more and more children tend to relapse. The first-line treatment is not effective, and the protracted treatment leads to chronic ITP. Clinicians should make corresponding individualized treatment and give reasonable management according to the characteristics of each child to reduce treatment-related complications and improve the quality of life of children. Table and Figures | Reference | Related Articles | Metrics

Select

Phenotypic characteristics and treatment strategies of severe bronchopulmonary dysplasia XIA Hongping, ZHANG Yongjun Journal of Clinical Pediatrics    2022, 40 (6): 401-406.   DOI: 10.12372/jcp.2022.22e0605 Abstract （885）   HTML （53）    PDF（pc） （1080KB）（485）       Knowledge map    Save Bronchopulmonary dysplasia (BPD) is one of the commonest and most serious complications in premature infants. Severe BPD (sBPD) is defined as premature infants receiving oxygen inhalation for at least 28 days and requiring oxygen concentration >30% or positive pressure ventilation at 36 weeks of corrected gestational age. Infants with sBPD may cause longterm death, cardiopulmonary dysfunction, failure to thrive, impaired cognitive development and motor retardation. With the improvement of survival rate of extremely premature infants in China, the incidence of sBPD has increased gradually. Due to the different pathophysiological mechanisms of different children, the phenotypes of diseases are greatly different, which brings considerable challenges to clinical diagnosis and treatment. In recent years, the diagnosis and treatment consensus at home and abroad has put forward the comprehensive management of the infants with sBPD through multidisciplinary team cooperation. In this review, the mechanism and clinical features of three disease components were introduced, including moderate-severe parenchymal disease, large airway disease and pulmonary hypertension. Respiratory support strategy, tracheostomy and drug treatment of pulmonary hypertension were also described. Neonatologists are expected to further improve the survival rate and prognosis of sBPD patients by strengthening the understanding of key pathophysiological and phenotypic characteristics of sBPD, establishing multidisciplinary team consultation mechanism and adopting targeted treatment strategies. Reference | Related Articles | Metrics

Select

Expert consensus on case reporting for rare diseases Editorial Board of Journal of Clinical Pediatrics Journal of Clinical Pediatrics    2022, 40 (3): 229-234.   DOI: 10.12372/jcp.2022.22e0186 Abstract （881）   HTML （51）    PDF（pc） （1258KB）（431）       Knowledge map    Save Objective To develop a publication check list to improve the quality of rare disease case reporting. Methods Through literature review, 14 sections and 48 items of the alternative publication list for rare disease case reports were formulated. The experts were back-to-back consulted on the items of the alternative publication list. Results A total of 65 consultation sheets for expert opinion were issued by the real-name system, and 52 valid expert opinions were received within a limited period of time. Based on the combined summary of the CARE list and the results of expert opinions, 13 sections and 33 items of publication check list for rare disease case reporting were formed, which were the minimum publication requirements for rare disease case reporting. Conclusions Authors and editors should check this consensus publication check list when reporting rare diseases and pay attention to the scientificity, integrity, and transparency of reports so as to provide readers with more valuable information. Table and Figures | Reference | Related Articles | Metrics

Select

Diagnosis and treatment of spinal muscular atrophy in China in the era of precision medicine MAO Shanshan Journal of Clinical Pediatrics    2022, 40 (3): 165-169.   DOI: 10.12372/jcp.2022.22e0022 Abstract （870）   HTML （40）    PDF（pc） （1205KB）（458）       Knowledge map    Save Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disease, which is caused by the lack of SMN protein due to the deletion/variation of the survival motor neuron gene (SMN) 1 gene. Its clinical manifestations are progressive muscular atrophy and muscle weakness, often accompanied by damage to multiple system organs such as respiration, digestion, nutrition and orthopedics, etc., and it is a serious fatal and disabling genetic disease. In 2018, SMA was included in the National List of the First Batch of Rare Diseases. The development of precision medicine has witnessed unprecedented progress in the treatment of SMA, and China has also had two disease-modifying treatment drugs used in clinical practice. In recent years, domestic and foreign diagnosis and treatment consensuses have put forward new norms for the standardized care of SMA, with particular emphasis on the entire course of disease management based on the collaboration diagnosis and treatment of multi-disciplinary team. The new advances in precise diagnosis and treatment and individualized management of SMA in the era of drug therapy will bring better prospects for the development of SMA in China. Reference | Related Articles | Metrics

Select

Progressing of nephronophthisis with different NPHP gene variations to end-stage renal disease in 3 cases XU Xinxing, SUN Zhouyun, DENG Fan, et al Journal of Clinical Pediatrics    2021, 39 (6): 433-.   DOI: 10.3969/j.issn.1000-3606.2021.06.008 Abstract （842）      PDF（pc） （1664KB）（201）       Knowledge map    Save Objective To explore the clinical characteristics of nephronophthisis caused by different NPHP gene variations. Methods The clinical data of nephronophthisis caused by different NPHP gene variations in 3 children were retrospectively analyzed. Results All of the 3 cases were female and had manifestations of anemia. Case 1 had extrarenal manifestations such as visceral inversion and abnormal liver function. Renal pathology of case 2 and 3 showed glomerular fibrosis, destruction of the integrity of the tubular basement membrane, tubule atrophy and infiltration of inflammatory cells in the renal interstitium. Case 1 and 2 had a family history of kidney disease. The younger brother of case 3 carried the same variation but did not have any clinical manifestations. NPHP gene variations were identified in all 3 cases by genetic testing. In case 1 , there were heterozygous variants of c. 388 A>C p.K 130 Q and c. 1465 G>A, p.V 489 M in NEK 8 /NPHP 9 gene, both of which were newly discovered. Case 2 had whole deletion of NPHP 1 gene. In case 3 , there was a homozygous variation of c.3218 T>G, p.L1073 * in NPHP3 gene, and the same homozygous variation site was found in her younger brother. All 3 patients had received renal transplantation and were under follow-up. Conclusions Nephronophthisis is a kind of clinical and genetic heterogeneous disease with no specific clinical manifestations, and genetic testing is helpful for diagnosis. Renal transplantation is an effective treatment for the progression from nephronophthisis to end-stage renal disease. The heterozygous missense variation of c.388A>C p.K 130 Q and the heterozygous variation of c.1465 G>A, p.V 489 M are newly discovered NPHP gene variants Related Articles | Metrics

Select

Research progress of Mycoplasma pneumoniae vaccine ZHANG Haiqing, CHEN Yanping, ZHANG Jin Journal of Clinical Pediatrics    2022, 40 (8): 634-640.   DOI: 10.12372/jcp.2022.21e1322 Abstract （812）   HTML （42）    PDF（pc） （1256KB）（262）       Knowledge map    Save Mycoplasma pneumoniae (MP) is one of the main pathogens of community-acquired pneumonia, which can cause respiratory symptoms and other extrapulmonary complications. Macrolide antibiotics are the first choice for the treatment of MP infection. In recent years, with the increase of MP infection rate and the wide application of antibiotics, the situation of macrolide drug resistance is becoming more and more serious. Vaccine is the best scientific method to prevent and control the prevalence, infection and pathogenicity of germs. At present, animal MP vaccine has been marketed at home and abroad and achieved good protective effects, while MP vaccine for human is still in the research stage. Based on this, the MP related vaccine is reviewed in order to provide some reference for the development of human MP vaccine in the future. Reference | Related Articles | Metrics

Select

Expert consensus on GD2 antibody dinutuximab-β in the treatment of neuroblastoma Collaborative Group on GD Monoclonal Antibody in the Treatment of Neuroblastoma Journal of Clinical Pediatrics    2022, 40 (1): 14-20.   DOI: 10.12372/jcp.2022.21e1685 Abstract （739）   HTML （29）    PDF（pc） （1398KB）（373）       Knowledge map    Save Table and Figures | Reference | Related Articles | Metrics

Select

Clinical features of three patients with ZTTK syndrome caused by SON gene mutation ZHAO Peiwei, BI Bo, ZHANG Lei, HUANG Yufeng, TAN Li, HE Xuelian, ZHU Hongmin Journal of Clinical Pediatrics    2023, 41 (2): 113-116.   DOI: 10.12372/jcp.2023.22e0180 Abstract （725）   HTML （31）    PDF（pc） （1900KB）（287）       Knowledge map    Save Objective To investigate the clinical features and gene mutation of patients diagnosed with ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome). Method The clinical data of three cases of ZTTK syndrome were retrospectively analyzed. Whole exome sequencing was applied to analyze the patients' genetic variants, and Sanger sequencing was used to verify the variant loci. Results In this study, 3 patients, aged from 10 months to 3 years and 8 months, had clinical phenotypes of facial dysmorphism, developmental delay, intellectual disability, microcephaly and abnormal muscle tone, abnormal hand joint or foot valgus, pyelonephritis, cryptorchidism and premature closure of cranial suture. In two cases, sulcus widening and cerebral dysplasia were observed on brain MRI. We found de novo variation in SON gene in all three children, c.3020G>A (p.R1007H), c.1195delG (p.V399fsTer1) and c.5753_5756delTTAG (p.V1918EfsTer87). Conclusion This study reports three cases of ZTTK syndrome due to SON gene abnormalities, which expands the mutation spectrum of SON gene. In this paper, we report three cases of ZTTK syndrome, extending the spectrum of mutations in this gene. The clinical manifestations of ZTTK syndrome are of multisystem involvement; whole exome sequencing may help to make a clear clinical diagnosis. Table and Figures | Reference | Related Articles | Metrics

Select

Diagnosis, treatment and future of children type 1 diabetes mellitus LUO Feihong Journal of Clinical Pediatrics    2022, 40 (5): 321-327.   DOI: 10.12372/jcp.2022.22e0411 Abstract （720）   HTML （74）    PDF（pc） （1157KB）（613）       Knowledge map    Save Type 1 diabetes mellitus (T1DM) is the major type of pediatric diabetes. According to the longitudinal epidemiology surveys in our national large metropolitans, the average annual incidence increasing rate is about three times higher that the average in the world, and the incidence increase in children under five years ranks the top, which indicates the younger trend of T1DM. The etiology and underlying mechanism of T1DM is complicated, with genetic susceptibility and environmental trigger factors as the main causes of T1DM. Early onset, long-term of disease course and poor glycemic control result in high incidence of chronic diabetic complications, and affect psychomotor development. Drug therapy, blood glucose monitoring, diabetes education, exercise and nutrition therapy are the fundamental measures for good glycemic control in pediatric T1DM. Artificial pancreas, stem cell islet differentiation and transplantation, and immune intervention may fundamentally improve the treatment and prognosis of T1DM in the future. Table and Figures | Reference | Related Articles | Metrics

Select

Comparison of different estimation formulas of glomerular filtration rate in children aged 15-18 years with chronic kidney disease KUANG Qianhuining, GAO Chunlin, ZHU Hong, YANG Xiao, PENG Yingchao, XIA Zhengkun Journal of Clinical Pediatrics    2022, 40 (12): 905-911.   DOI: 10.12372/jcp.2022.21e1353 Abstract （686）   HTML （7）    PDF（pc） （1716KB）（144）       Knowledge map    Save Objective To compare the accuracy and applicability of eight estimation formulas for glomerular filtration rate (GFR) in children aged 15-18 years with chronic kidney disease (CKD). Methods Children with CKD hospitalized from January 2015 to March 2021 wereenrolled. Eight eGFR formulas (update Schwartz formula, CAPA formula, Counahan-Barratt formula, Filler formula, CKD-EPI-Scr2009, CKD-EPI-CysC2012, LMR18, FAS formula) were applied to estimate GFR. The Gates method of 99mTc-DTPA renal dynamic imaging was used as the gold standard GFR (sGFR) determination. The bias, precision and accuracy of each formula were compared, and the diagnostic efficacy of each formula for renal insufficiency was analyzed. Results A total of 88 children were enrolled, including 56 boys and 32 girls, and the median age was 17.0 (16.0-18.0) years. There were 56 cases of CKD stage 1, 18 cases of CKD stage 2, 11 cases of CKD stage 3, 2 cases of CKD stage 4, and 1 case of CKD stage 5. The eGFR in all formulas was positively correlated with sGFR (all P<0.001). The CKD-EPI-Scr2009 formula had the best correlation with sGFR (r=0.73), and the Filler formula had the worst correlation with sGFR (r=0.39). The CAPA, CKD-EPI-Scr2009 and FAS formulas overestimated the GFR on the overall level, while the other formulas underestimated GFR. When sGFR was used as the gold standard, the FAS formula had the smallest bias and the CAPA formula had the largest bias. In terms of precision, the LMR18 formula showed the best precision, followed by the update Schwartz formula, and the CAPA formula showed the worst precision. In terms of accuracy, the LMR18 formula showed the highest accuracy (P30=73.86%). ROC curve analysis showed that the area under the curve (AUC) of the CKD-EPI-Scr2009 formula was the largest (0.907), the sensitivity of CAPA, Filler, and CKD-EPI-CysC2012 formulas were the highest (95.90%), and the specificity of LMR18 and FAS formulas were the highest (85.71%). Conclusions Among the eight eGFR formulas, the accuracy of CysC-based formulas (CAPA, Filler and CKD-EPI-CysC2012 formula) is not as good as Scr-based formulas (update Schwartz, Counahan-Barratt, CKD-EPI-Scr2009, LMR18 and FAS formula), and LMR18 formula has the highest precision and accuracy. Table and Figures | Reference | Related Articles | Metrics

Select

Progress in diagnosis and treatment of epilepsia partialis continua in children ZHOU Zhuying, WU Jing, ZHANG Zhijie, et al Journal of Clinical Pediatrics    2021, 39 (10): 788-.   DOI: 10.3969/j.issn.1000-3606.2021.10.018 Abstract （678）      PDF（pc） （1178KB）（480）       Knowledge map    Save Epilepsia partialis continua (EPC) is a kind of focal status epilepticus caused by abnormal discharge of cortical neurons, which leads to localized and continuous muscle contraction (interval time is not more than 10 seconds, duration time is not less than 1 hour). The etiology of EPC determines its clinical characteristics, treatment and prognosis. This paper reviews the progress of diagnosis and treatment of EPC from the perspective of etiology, so as to improve the understanding of EPC. Related Articles | Metrics

Select

Clinical phenotypic and genetic analysis of three patients with Coffin-Siris syndrome WU Chenchen, ZHANG Huiwen Journal of Clinical Pediatrics    2022, 40 (5): 355-360.   DOI: 10.12372/jcp.2022.21e1660 Abstract （674）   HTML （9）    PDF（pc） （1604KB）（422）       Knowledge map    Save Objective To perform the phenotypic analysis and identify genetic variation locus in three patients with Coffin-Siris Syndrome (CSS). Methods Chromosome microarray analysis (CMA), trio-whole exome sequencing analysis (trio-WES), trio-whole genome sequencing analysis (trio-WGS), and Sanger sequencing were used for genetic diagnosis. The peripheral blood example of patient 3 was collected to establish an immortalized lymphocyte line, and the ARID1B protein expression was detected by Western Bolt (WB). Results All three patients visited the hospital for developmental retardation, and they all had facial dysmorphism. Patient 1 had intrauterine growth restriction, patient 2 was accompanied by recurrent upper respiratory tract infection, patient 3 had intellectual disability and abnormal hand manifestations. The CMA results of three patients were negative. The pathogenic gene loci of patient 1 and patient 2 were obtained by trio-WES analysis. Patient 1 has a de novo heterozygous splicing site mutation of c.363-3C>G in SMARCB1. There was a de novo heterozygous splicing site mutation of c.3550+1(IVS13) G>A in the ARID1B gene of patient 2. No pathogenic variations were identified in patient 3 by trio-WES. However, trio-WGS analysis revealed a de novo heterozygous exon 11 deletion in the ARID1B gene of patient 3. The three de novo mutations have not been reported previously. WB showed a significant decrease of ARID1B protein level in immortalized lymphocytes from patient 3. Conclusions The clinical manifestations of Coffin-Siris syndrome are diverse, and featured mainly as developmental retardation. The application of multiple genetic testing methods can help to confirm diagnosis of the Coffin-Siris syndrome. Table and Figures | Reference | Related Articles | Metrics

Select

Bernard-Soulier syndrome caused by compound heterozygous variations of GP1BA gene: a case report WANG Yan, SHEN Diying, ZHANG Jingying, et al Journal of Clinical Pediatrics    2022, 40 (1): 63-.   DOI: 10.12372/jcp.2022.21e0390 Abstract （672）      PDF（pc） （1842KB）（316）       Knowledge map    Save Objective To analyze the clinical characteristics and genetic etiology of a case of Bernard-Soulier syndrome. Methods The clinical and molecular genetic data of a child diagnosed with BSS were reviewed. Results The patient was a 5 -year-old boy. Thrombocytopenia occurred in the newborn period, and the platelet count was maintained at ( 25 ~ 40 ) × 109 /L. Gamma globulin and hormone therapy were not effective. The expression level of platelet membrane glycoproteinⅠbα(GPⅠbα) was 42.4%, which was significantly lower than normal level. Whole exome sequencing detected two variations in the GP 1 BA gene of the child, c. 987 G>A and c. 523 _ 525 delAAC. The Sanger family verified that the variations were derived from their parents respectively and constituted a compound heterozygous variant. Conclusion The variation site of c.523 _ 525 delAAC has not been reported, which expands the BSS gene variation spectrum. Related Articles | Metrics

Select

Early infantile-onset epileptic encephalopathy caused by PARS2 gene variation: a case report WANG Xiuying, TIAN Yang, SHI Zhen, HOU Chi, LI Xiaojing, ZHU Haixia, CAO Binbin, CHEN Wenxiong, WU Xiangling Journal of Clinical Pediatrics    2022, 40 (4): 306-310.   DOI: 10.12372/jcp.2022.21e0723 Abstract （670）   HTML （37）    PDF（pc） （3048KB）（275）       Knowledge map    Save Genetic factors are common causes of early infantile-onset epileptic encephalopathy. The pathogenicity variation of a child with early infantile-onset epileptic encephalopathy was reported in this paper. The boy was 4 months and 27 days old. He had recurrent convulsions for more than 20 days, characterized by convulsive seizures and developmental retardation. The proband's parents had no abnormal phenotype. The proband had compound heterozygous variation of c.287G>A (p.Arg96His) and c.283G>A (p.Val95Ile) in PARS2 gene. The former was derived from the mother, and the latter from the father. Among them, the former phenotype has not been reported, while the latter variant of C. 283G>A has been reported in the past. According to the guidelines of the American College of Medical Genetics and Genomics, both of them are considered to be of "unknown significance". After 6 weeks of oral treatment with topiramate and nitrazepam, seizure was controlled, but the child still had significant psychomotor developmental retardation and hypotonia. The results suggested that a novel compound heterozygous variation of PARS2 gene is the pathogenic variation of the child with early infantile-onset epileptic encephalopathy in this family, which provides a basis for genetic counseling in this family. Epileptic encephalopathy caused by PARS2 gene variation still has severe developmental retardation even when seizure is controlled. Table and Figures | Reference | Related Articles | Metrics

Select

Kawasaki disease complicated with pancreatitis and low T3 syndrome: a case report DENG Haimei, MIN Li, WU Jinzhi, et al Journal of Clinical Pediatrics    2021, 39 (10): 733-.   DOI: 10.3969/j.issn.1000-3606.2021.10.004 Abstract （661）      PDF（pc） （1187KB）（116）       Knowledge map    Save Objective To investigate the clinical manifestations, diagnosis and treatment of Kawasaki disease complicated with pancreatitis and low T3 syndrome. Methods The clinical data of Kawasaki disease complicated with pancreatitis and low T3 syndrome in one child were retrospectively analyzed, and the relevant literature was reviewed. Results A 4-year-old girl presented with Kawasaki disease and pancreatitis was treated at our facility. During her stay, she developed Kawasaki disease shock syndrome, low T3 syndrome, and gamma globulin resistance. After two times of gamma globulin and hormone therapy, she had no fever, but she still constantly complained abdominal pain. Through the treatment of fasting, water prohibition, suppression of pancreatic enzyme secretion, and gastrointestinal nutrition by nose jejunum tube implantation, the child was recovered and discharged. The prognosis of the child was good after six months’ follow-up. Conclusion Kawasaki disease complicated with pancreatitis and low T3 syndrome suggests a critical condition requiring early identification, intervention and follow-up of echocardiography and thyroid function. Related Articles | Metrics

Select

Application of biological agents in idiopathic nephrotic syndrome WANG Qianhui, LIU Fei, FU Haidong, MAO Jianhua Journal of Clinical Pediatrics    2022, 40 (10): 787-794.   DOI: 10.12372/jcp.2022.21e1440 Abstract （652）   HTML （14）    PDF（pc） （1456KB）（212）       Knowledge map    Save Idiopathic nephrotic syndrome (INS) is the commonest glomerular disease in children. Refractory nephrotic syndromes such as frequent relapses, steroid dependence and steroid resistance are still the current difficulties in clinical INS treatment. In recent years, it has been reported that rituximab (RTX) and other biological agents have been used in the treatment of refractory nephrotic syndrome and have achieved good results. This article reviews the application progress of RTX and other biological agents in INS. Table and Figures | Reference | Related Articles | Metrics

Select

Early-onset epileptic encephalopathy type 27 caused by missense variation of GRIN2B gene: a case report MEI Daoqi, MEI Shiyue, WANG Xiaona, WANG Yuan, CHEN Guohong, YANG Zhixiao, CHEN Xiaoyi, ZHANG Yaodong, YANG Xiuan Journal of Clinical Pediatrics    2022, 40 (4): 300-305.   DOI: 10.12372/jcp.2022.21e0540 Abstract （651）   HTML （24）    PDF（pc） （2315KB）（353）       Knowledge map    Save Early-onset epileptic encephalopathy (EOEE) is a kind of epileptic syndrome that appears in neonatal period or early infancy. It has genetic heterogeneity and is characterized by early onset, refractory, multiple seizure types and overall developmental retardation or regression. The clinical data of a child with early-onset epileptic encephalopathy type 27 caused by GRIN2B gene variation were reviewed. The patient was a 12-month-old girl who developed the disease on the second day after birth, presenting with refractory epilepsy, psychomotor retardation, and hypotonia. Cranial magnetic resonance imaging showed bilateral frontal subarachnoid space widening. Long range video electroencephalogram showed multifocal sharp waves and spike waves in each waking and sleeping period, as well as abnormal brain discharges corresponding to the clinical onset, suggesting sharp waves and spike slow waves in the right frontal lobe and central region during sleeping period. Whole exon gene sequencing revealed a novel heterozygous missense variation of c.2635G>A (p. Glu879Lys) (NM_000834) in GRIN2B gene of the proband. The parental and elder brother genotypes were wild-type and the child was considered as early-onset epileptic encephalopathy type 27. No literature was reported on this locus variant. According to the 2015 guidelines of the American College of Medical Genetics and Genomics, it was considered likely pathogenic. Topiramate, ocasepine and rehabilitation function training were used for treatment. During the follow-up, the development of the patient was found to be behind that of normal children of the same age, and there was no epileptic seizure and no abnormal discharge in electroencephalogram. The GRIN2B gene missense variant of (NM_000834):c.2635G>A (p.Glu879Lys) is a possible cause of the proband. Table and Figures | Reference | Related Articles | Metrics

Select

Research progress on diagnosis and treatment of congenital high airway obstruction syndrome Reviewer: YAN Huiyuan, ZHOU Jianguo, Reviser: CHEN Chao Journal of Clinical Pediatrics    2022, 40 (2): 149-154.   DOI: 10.12372/jcp.2022.21e657 Abstract （647）   HTML （10）    PDF（pc） （1196KB）（149）       Knowledge map    Save Congenital high airway obstruction syndrome (CHAOS) is a rare syndrome caused by complete or nearly complete airway obstruction of the fetus, including any airway obstruction that interrupts the amniotic fluid circulation between the fetal lungs and the amniotic cavity. Its causes are various, most of them are congenital malformations, and airway obstruction can also be caused by external compression (such as primary cervical mass or double aortic arch). If prenatal disorders can be found in time and given corresponding treatments, it is of great help to reduce perinatal mortality. At present, most of the domestic studies on CHAOS are case reports and prenatal ultrasound screening, there are few studies related to gene defects, so it is particularly important to develop a more systematic diagnosis and treatment plan. Reference | Related Articles | Metrics

Select

Research progress of granzyme A and its related diseases NIU Rongwei Journal of Clinical Pediatrics    2021, 39 (9): 711-.   DOI: 10.3969/j.issn.1000-3606.2021.09.017 Abstract （645）      PDF（pc） （959KB）（148）       Knowledge map    Save Granzyme A (GzmA) is a serine protease secreted by natural killer cells and cytotoxic T lymphocytes. It can regulate the body's immune defense by inducing apoptosis and pyrolysis, and it can also kill bacteria and parasites that invade the host cells to maintain body homeostasis. Recent studies have found that GzmA influences the pathogenesis and development of tuberculosis, sepsis, and rheumatoid arthritis by regulating the release of IL- 6 and TNF-伪, and also it can activate pSTAT 3 to promote the development of intestinal inflammation and colorectal cancer. This article reviews the characteristics and functions of GzmA, as well as its role in inflammatory process, autoimmune diseases and tumors. Related Articles | Metrics

Select

Comments on KDIGO 2021 Clinical Practice Guideline for the Management of Blood Pressure in Chronic Kidney Disease of Children ZHANG Pei, GAO Chunlin, XIA Zhengkun Journal of Clinical Pediatrics    2022, 40 (6): 469-474.   DOI: 10.12372/jcp.2022.21e1610 Abstract （644）   HTML （48）    PDF（pc） （1122KB）（465）       Knowledge map    Save Hypertension is an important complication of chronic kidney disease (CKD) and substantial cause for the occurrence and progression of CKD. In 2021, the Kidney Disease: Improving Global Outcomes (KDIGO) published clinical practice guideline for the management of blood pressure in CKD, which is mainly applicable to CKD patients who have not undergone dialysis. The content includes methods, control objectives and treatment of blood pressure measurement in CKD children. This article interprets the relevant content of the blood pressure management of CKD children in the guideline. Table and Figures | Reference | Related Articles | Metrics

Select

Neurodevelopmental disorder with spastic diplegia and visual defects by CTNNB1 gene mutation: a report of 5 Chinese cases with literature review PANG Kexin, WANG Pei, ZHU Min, LU Fen, TANG Jian, ZHANG Li Journal of Clinical Pediatrics    2022, 40 (8): 616-622.   DOI: 10.12372/jcp.2022.21e1421 Abstract （632）   HTML （35）    PDF（pc） （1499KB）（216）       Knowledge map    Save Objective To investigate the clinical characteristics and genetic variants of children with neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Methods A retrospective analysis was performed on the clinical manifestations, laboratory examinations, and genetic testing of 5 NEDSDV children diagnosed in the rehabilitation department of Nanjing Children's Hospital from 2014 to 2020, and the clinical manifestations and genetic characteristics of the patients were summarized together with literature review. Results All the five patients showed features of global developmental delay, microcephaly and spastic diplegia. Among them, patients 1, 2, 3, and 5 all had strabismus, and patient 5 had severe congenital retinal exudative abnormalities. Genetic testing identified de novo heterozygous mutations of CTNNB1 gene in all of the five patients, and all of them were truncated mutations (including nonsense and frameshift mutations), of which c.478_479insTAAATGA, c.1973dupT and c.625G>T were newly discovered mutations. Compared with 39 cases of genetically diagnosed patients reported abroad from 2001 to 2020 (including 5 adult cases), all but one child in this study had a slightly thinner corpus callosum, the other four cases showed no significant brain imaging abnormalities, and retinopathy was relatively rare. Conclusions Global developmental delay accompanied by microcephaly and spastic diplegia can be an indication for the suspected diagnosis of NEDSDV, while ocular lesions and brain imaging abnormalities are not necessary phenotypes for clinical diagnosis, and confirmation of diagnosis depends on genetic testing. The identification of three novel variants of CTNNB1 expands the pathogenic variants spectrum of NEDSDV. Table and Figures | Reference | Related Articles | Metrics

Select

Clinical analysis of eight children with undifferentiated embryonal sarcoma of the liver in children and literature review TANG Jingjing, MA Yihui, XU Xueju, et al Journal of Clinical Pediatrics    2021, 39 (10): 758-.   DOI: 10.3969/j.issn.1000-3606.2021.10.010 Abstract （606）      PDF（pc） （1154KB）（167）       Knowledge map    Save Objective To analyze the clinical features, treatment and prognosis of undifferentiated embryonal sarcoma of the liver (UESL) in children. Methods The clinical data of 8 children with UESL admitted from November 2012 to June 2019 were retrospectively analyzed. Kaplan-Meier survival analysis was used to calculate the survival rate. Result There were 8 children ( 5 boys and 3 girls). The median age of onset was 7 years ( 8 months to 10 years). The tumors of the 8 children were all located in the right lobe of the liver, and the median maximum diameter was 13 . 5 cm ( 10 - 20 cm). Ultrasonography showed intrahepatic solid cystic mass with mixed echogenicity. All patients underwent complete resection of the tumor, and 3 patients had tumor rupture before surgery. Six cycles of alternating chemotherapy were performed between AVCP regimen (cisplatin, vincristine, adriamycin and cyclophosphamide) and IEV regimen (ifosfamide, etoposide and vincristine). The median follow-up time was 47 ( 24 - 90 ) months, 7 children were in complete remission, and 1 died of recurrence. The 5 -year event free survival (EFS) was ( 79 . 25±9 . 31 ) %. Conclusions Preoperative tumor rupture may occur in children with UESL. Complete resection combined with chemotherapy can achieve long-term disease-free survival. Related Articles | Metrics

Select

Update on the progress in diagnosis and treatment of benign epilepsy of childhood with centrotemporal spikes FAN Yuying, LIU Xueyan, WANG Hua Journal of Clinical Pediatrics    2022, 40 (3): 177-183.   DOI: 10.12372/jcp.2022.22e051 Abstract （605）   HTML （16）    PDF（pc） （1316KB）（468）       Knowledge map    Save Benign epilepsy of childhood with centrotemporal spikes (BECT) is the commonest focal epilepsy syndrome in children. The pathogenesis of BECTS involves the interaction of complex polygenes and environmental factors, presenting a pattern of multifactorial inheritance. BECTS can evolve into atypical BECTS, both of which can be combined with electrical status epilepticus during slow wave sleep (ESES). The treatment of BECTS requires consideration of multiple factors and individualized risk-benefit assessment to determine the best treatment regimen. Early recognition and diagnosis of BECTS comorbid cognitive impairment should be emphasized. Attention deficit hyperactivity disorder (ADHD) is the commonest childhood psychobehavioral comorbidity of BECTS. Formal treatment of BECTS comorbid ADHD should be initiated as soon as possible. There are still many problems and challenges in the clinical diagnosis and treatment of BECTS. This article will review the recent progress in the diagnosis and treatment of BECTS, aiming to provide reference for the clinical diagnosis and treatment of BECTS and improve the life quality of children with BECTS. Table and Figures | Reference | Related Articles | Metrics

Select

Journal of Clinical Pediatrics    2023, 41 (3): 224-228.   DOI: 10.12372/jcp.2023.22e0475 Abstract （600）   HTML （34）    PDF（pc） （1158KB）（1224）       Knowledge map    Save Reference | Related Articles | Metrics

Select

T lymphocyte subsets and serum neuron-specific enolase levels in children with tic disorder and their clinical significance LI Weiqin, ZHANG Zilu, QIN Zhuo, ZHANG Liya, GUO Yue Journal of Clinical Pediatrics    2022, 40 (6): 456-460.   DOI: 10.12372/jcp.2022.21e1478 Abstract （598）   HTML （11）    PDF（pc） （1241KB）（102）       Knowledge map    Save Objective To investigate the association of T lymphocyte subsets and serum neuron-specific enolase (NSE) levels with the severity of tic symptoms and clinical types in Tic disorders (TD) children, and to analyze its clinical significance. Methods Clinical data of children with TD who attended one neurology clinic from June 2020 to June 2021 were collected. According to the Yale Global Tic Severity Scale (YGTSS), the children were divided into the mild TD group and the moderate to severe TD group. According to the DSM-V clinical classification standard, the TD group is divided into transient tic disorder group (TTD group), chronic exercise or vocal tic disorder group (CTD group), Tourette syndrome group (TS group). T lymphocyte subsets and NSE levels were compared between TD children and healthy children who underwent routine physical examination at the same time. Results A total of 180 TD children (TD group) were enrolled, including 141 boys and 39 girls, and the mean age was (7.3±2.3) years. There were 150 children (115 boys and 35 girls) in the control group, and the mean age was (7.4±2.2 years). The levels of CD3+, CD3+CD4+ and CD4+/CD8+ in TD group were lower than those in the control group, and the NSE level in TD group was higher than that in the control group, and the difference was statistically significant (P<0.001). The differences in CD3+, CD3+CD4+, CD4+/CD8+ and NSE levels between the mild TD group (n=73), the moderate to severe TD group (n=107) and the control group were statistically significant (P<0.05). The CD3+ level in the moderate to severe TD group was lower than that in the mild TD group and the control group, the NSE level in the moderate to severe TD group was higher than that in the mild TD group and the control group, and the difference was statistically significant (P<0.05). The NSE levels were significantly positively correlated with TD severity (r=0.82, P<0.001). The differences in CD3+, CD3+CD4+, CD4+/CD8+ and NSE levels between the TTD group (n=115), CTD group (n=42), TS group (n=23) and the control group were statistically significant (P<0.05). The levels of CD3+, CD3+, CD4+, CD4+/CD8+ in the TTD group, CTD group and TS group were lower than those in the control group, the NSE level was higher than that in the control group, and the differences were statistically significant (P<0.05). Conclusions T lymphocyte immunity disorder was found in TD children. The level of NSE increased, and the degree of elevation was related to the severity of the disease, but not to the clinical classification of the disease. Table and Figures | Reference | Related Articles | Metrics

Select

Clinical and genetic analysis of molybdenum cofactor deficiency: a case report ZHANG Guangyu, LI Sansong, YANG Lei, et al Journal of Clinical Pediatrics    2021, 39 (6): 446-.   DOI: 10.3969/j.issn.1000-3606.2021.06.011 Abstract （590）      PDF（pc） （1443KB）（360）       Knowledge map    Save Objective To explore the clinical and genetic features of molybdenum cofactor deficiency. Method The clinical data of molybdenum cofactor deficiency in a patient was retrospectively analyzed. Result A 6 -month-old girl was born with no abnormalities. However, she had feeding difficulties and convulsion immediately after birth, and gradually developed microcephaly and spastic tetraplegia, etc. Whole exome sequencing showed compound heterozygous variation of c. 473 T>G (p.Leu 158 *) and c. 472 _ 477 del (p.Leu 158 _Lys 159 del) in MOCS2 gene, which were inherited from her father and mother respectively. According to the ACMG guidelines, the c. 473 T>G variation was classified as pathogenic, while the c. 472 _ 477 del variation was classified as likely pathogenic. Conclusion The child was diagnosed with molybdenum cofactor deficiency caused by heterozygous variation in the MOCS 2 gene. Related Articles | Metrics

Select

Hypofibrinogenemia caused by tocilizumab in the treatment of vasculitis in children: a case report and literature review LING Jiayun, HE Tingyan, WENG Ruohang, et al Journal of Clinical Pediatrics    2021, 39 (9): 691-.   DOI: 10.3969/j.issn.1000-3606.2021.09.012 Abstract （587）      PDF（pc） （1492KB）（167）       Knowledge map    Save Objective To explore the risk and safety of tocilizumab (TCZ) induced hypofibrinogenemia in patients with rheumatic immune diseases. Methods The clinical data of hypofibrinogenemia caused by TCZ in the treatment of vasculitis in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A 12 -year-old boy presented with a painful erythema-like rash on the limbs, accompanied by swelling and pain in the lower limbs and restricted mobility. The skin pathology showed vasculitis-like changes. The treatment effect of prednisone and cyclophosphamide in the child was not satisfactory. Hypofibrinogenemia occurred 2 weeks after the treatment with TCZ, and the level of fibrinogen increased 6 weeks after discontinuation of TCZ. There were minimal hemoptysis twice during the period. Foreign literature has reported that patients treated with TCZ have a higher risk of surgical bleeding. TCZ induced hypofibrinogenemia may be related to drug-induced cytokine imbalance and secondary coagulation factor ⅩⅢ deficiency. Conclusion TCZ treatment can cause hypofibrinogenemia and even secondary severe bleeding. The coagulation function should be monitored during the treatment process, especially the level of fibrinogen and the activity of coagulation factor ⅩⅢ. Related Articles | Metrics

Select

Clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy: a case report and literature review LUO Zhiqiang, LU Xinguo, LIU Liqin, LIAO Jianxiang Journal of Clinical Pediatrics    2022, 40 (3): 208-211.   DOI: 10.12372/jcp.2022.21e1539 Abstract （586）   HTML （20）    PDF（pc） （1638KB）（234）       Knowledge map    Save To explore the clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy (SMA). The relevant clinical data, from a baby with presymptomatic 5q SMA were retrospectively collected, and a comprehensive analysis was made based on the existing literature. A 10-month-old girl got MLPA examination after birth because of the family history of SMA, and the results showed the homozygous deletions of SMN1 gene exon 7 and 8 and two copies of SMN2 gene. Physical examination showed that she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Five doses of nusinersen have been treated by intrathecal injection according to the medication plan, and no adverse reactions have been observed. The milestones of motor development are basically normal. It is suggested that nusinersen treatment during the presymptomatic stage can achieve the best effect in children with 5q SMA, and the motor development milestone is expected to reach the normal level. Table and Figures | Reference | Related Articles | Metrics

Select

Inherited platelet function disorders: diagnosis, treatment and management YANG Xiaoyan, BIAN Qiuhan, TUO Yuanyuan, WANG Dinghuan, HUANG Jing Journal of Clinical Pediatrics    2022, 40 (2): 87-94.   DOI: 10.12372/jcp.2022.21e1618 Abstract （585）   HTML （13）    PDF（pc） （1364KB）（418）       Knowledge map    Save Inherited platelet function disorders (IPFDs) is a rare disorder. The clinical manifestations were heterogeneous, mainly characterized by spontaneous cutaneous and mucosal hemorrhage, menorrhagia, difficulty in hemostasis after trauma, with or without thrombocytopenia. Its incidence has been underestimated due to difficulties in clinical diagnosis. Treatment and management of the disease are also challenging. This study summarized the classification, clinical manifestations, diagnosis, treatment and management of IPFDs, to improve the understanding of IPFDs and provide reference for diagnosis, treatment and management of IPFDs for front-line pediatricians. Table and Figures | Reference | Related Articles | Metrics

Select

A retrospective clinical analysis of 21 cases of Castleman disease in children LIU Zhichao, LI Changchun, WANG Shan, KONG Xiangru, ZHANG Jun, YANG Chao, ZHAO Zhenzhen Journal of Clinical Pediatrics    2022, 40 (2): 139-143.   DOI: 10.12372/jcp.2022.21e0963 Abstract （582）   HTML （11）    PDF（pc） （1193KB）（188）       Knowledge map    Save Objective To analyze clinical features of Castleman disease (CD) for improving clinicians' understanding of CD. Methods Data including clinical manifestation, diagnosis, therapy and prognosis of pediatric patients with CD diagnosed and treated in a single center in Children's Hospital of Chongqing Medical University from January, 2010 to June, 2020 were retrospectively analyzed. Results There are 21 children with CD (11 males and 10 females), the median age of patients was 10.90 (5.35, 12.1) years old. All patients have performed CT examinations. Among them, all unicentric CD (UCD) patients underwent complete surgical resection, and six patients of multicentric CD (MCD) were treated with chemotherapy, anti-IL-6 and hormones. The median follow-up time of 21cases is 37 months (27,71), 2 UCD patients died with paraneoplastic pemphigus and lung interstitial changes. Conclusion Castleman disease is rare in pediatric patients, and the overall prognosis is well if it was treated timely. For UCD patients, preferred surgical treatment for asymptomatic UCD children have high cure rate. Children with MCD treated with anti-IL-6, hormones, and chemotherapy have significantly improved long-term survival rates. Reference | Related Articles | Metrics

Select

Diagnosis and treatment of postural tachycardia syndrome in children LIAO Ying Journal of Clinical Pediatrics    2022, 40 (7): 488-493.   DOI: 10.12372/jcp.2022.22e0412 Abstract （577）   HTML （38）    PDF（pc） （1248KB）（217）       Knowledge map    Save Postural orthostatic tachycardia syndrome (POTS) is a group of clinical syndromes characterized by chronic orthostatic intolerance and an excessive orthostatic heart rate increment. It is common both in children and adolescents and it can significantly affect children's learning and quality of life. POTS symptoms involve multiple systems and can be associated with multiple comorbidities. Since the clinical manifestations are complex, detailed history taking, correct interpretation of the results of standing test, careful differential diagnosis as well as comprehensive assessment of comorbidities are required when make a diagnosis of POTS for children. The pathogenesis of POTS mainly includes three core mechanisms: central hypovolemia, hyperadrenergic state and vascular dysfunction (partial autonomic neuropathy). In the treatment of POTS children, non-pharmacological therapy should be used as the basis. The main pathogenesis should be evaluated according to the clinical characteristics and certain biomarkers of the children, and attention should be paid to the management of comorbidities, so as to carry out individualized comprehensive treatment. Table and Figures | Reference | Related Articles | Metrics

Select

Precision treatment in pediatric epilepsy SHI Xiuyu, HU Linyan, HAN Fang, ZOU Liping Journal of Clinical Pediatrics    2022, 40 (3): 170-176.   DOI: 10.12372/jcp.2022.21e1721 Abstract （575）   HTML （34）    PDF（pc） （1443KB）（351）       Knowledge map    Save Epilepsy is one of the commonest and the most devastating neurological diseases in childhood, and antiepileptic drugs are the main treatment method. In the past few decades, because the causes of epilepsy were not well understood, drug selection was largely based on the type of seizure, treating only the symptoms rather than the root causes. In recent years, with new tools and means, the diagnosis of the cause of epilepsy has dramatically improved, and the treatment for the cause can achieve the purpose of treating both the symptoms and root causes. The treatment of childhood epilepsy is entering the era of precision treatment. According to the new classification of epilepsy causes published in 2017 by International League Against Epilepsy (ILAE), this paper summarizes new available tests for making diagnoses in each of the etiological categories in the ILAE classification and the corresponding precision treatment. Table and Figures | Reference | Related Articles | Metrics

Select

Changes in viral etiology of children with respiratory tract infection and diagnostic strategy during the COVID-19 pandemic WANG Yuqing, JIANG Wujun, GU Wenjing Journal of Clinical Pediatrics    2022, 40 (4): 241-246.   DOI: 10.12372/jcp.2022.22e0195 Abstract （572）   HTML （51）    PDF（pc） （1225KB）（383）       Knowledge map    Save Respiratory tract infection is the commonest infectious disease in childhood, and virus is the main pathogen. Since the outbreak of coronavirus disease 2019 (COVID-2019), the epidemiological characteristics and spectrum of respiratory tract pathogens in children have changed. Etiological detection and continuous monitoring are of great significance and can provide evidence for clinical diagnosis, treatment and prevention and control. Reference | Related Articles | Metrics

Select

10q22.3-q23.2 deletion syndrome combined with hypermethioninemia: a case report and literature review WANG Yanyun, SUN Yun, JIANG Tao Journal of Clinical Pediatrics    2021, 39 (9): 660-.   DOI: 10.3969/j.issn.1000-3606.2021.09.005 Abstract （564）      PDF（pc） （1451KB）（356）       Knowledge map    Save Objective To explore the clinical features of 10 q 22 . 3 q 23 . 3 deletion syndrome combined with hypermethioninemia. Methods The clinical data of 10 q 22 . 3 q 23 . 3 deletion syndrome combined with hypermethioninemia in a child were retrospectively analyzed. Results A male child had special facial features, including prominent forehead, low base of the nose, ocular hypertelorism, epicanthus, slightly upturned apex nasi, moderately philtrum and low ear position, and no other special abnormalities were observed. The detection by tandem mass spectrometry found that methionine (MET) was 306. 02 μmol/L at 72 hours after birth, and rose to 695. 37 μmol/L at recall for examination. Familial verification analysis showed that the father of the child had 10q22.3q23.2 microdeletion syndrome, and the deletion CNV was de novo. The mother of the child carried a heterozygous variation of c. 74 _ 75 delTG (p.Val25GlyfsX7) in MAT1A gene. The final diagnosis genotype of the prohand was 10q22.3q23.2 deletion/c.74_75delTG (p.Val 25 GlyfsX 7 ), which leaded to 10 q 22 . 3 q 23 . 3 microdeletion syndrome with hypermethioninemia. After diagnosis, the proband was given low-methionine diet combined with rehabilitation training. The compliance of the families was so poor that the proband’s MET was controlled at around 700 μmol/L. There was no abnormality in liver function and large motor development. However, the language development was delayed. Conclusions The first case of 10 q 22 . 3 q 23 . 3 microdeletion syndrome combined with hypermethioninemia is reported. The prognosis of 10 q 22 . 3 q 23 . 3 microdeletion syndrome varies greatly because of the incomplete penetrance. When MET exceeds 600 μmol/L, low methionine diet is needed as soon as possible. Related Articles | Metrics

Select

Drug treatment progress on juvenile dermatomyositis SUN Yanru, LIU Li Journal of Clinical Pediatrics    2022, 40 (5): 395-400.   DOI: 10.12372/jcp.2022.21e1485 Abstract （554）   HTML （15）    PDF（pc） （1240KB）（223）       Knowledge map    Save Juvenile dermatomyositis (JDM) is an autoimmune inflammatory myopathy in childhood that can affect the whole body, mainly the skin and proximal muscles. It can also affect vital organs (such as: lungs, joints, and gastrointestinal tract etc), often accompanied by the presence of specific antibodies. At present, the treatment of JDM is very difficult. The first-line drugs are glucocorticoids and methotrexate. For patients with poor therapeutic effects, some second-line or third-line drugs may play a supportive role. In refractory patients, intravenous injection of immunoglobulin or cyclophosphamide may be effective, while biologics and small molecule targeted drugs are gradually used in clinical practice. In addition to glucocorticoids, the choice of drugs often requires a combination of clinical symptoms, serum specific antibodies, pathological results and response to initial treatment, and continuous adjustments during the treatment process. The purpose of this review is to provide an overview the drugs currently used in the treatment of JDM, observation of therapeutic effects and strategies for drug selection, and to provide ideas for clinical treatment. Table and Figures | Reference | Related Articles | Metrics

Select

Beals-Hecht syndrome: a case report and literature review ZHON Huanzhen, WANG Aiping Journal of Clinical Pediatrics    2021, 39 (9): 700-.   DOI: 10.3969/j.issn.1000-3606.2021.09.014 Abstract （552）      PDF（pc） （1842KB）（183）       Knowledge map    Save Objective To report a case of Beals-Hecht syndrome with a new heterozygous variation in FBN 2 gene. Methods The clinical data of Beals Hecht syndrome in a child were retrospectively analyzed, the related literatures were reviewed and its clinical features and genotypes were summarized. Results A boy, aged 3 months and 28 days, had wrinkled ears, multi-joint flexion contracture and lower extremity muscular dysplasia. Gene analysis showed that there were two new heterozygous variants in the FBN2 gene of the child, c.2944 T>G (p.C 982 G) and c.6518 A>G (p.N 2173 S), both of which were missense variants. Conclusion Beals-Hecht syndrome involves multiple systems, and gene detection is helpful for diagnosis. Related Articles | Metrics

Select

Kawasaki disease with arthritis: a report of two cases and literature review LIU Lei, SONG Xiaoxiang, FENG Qihua Journal of Clinical Pediatrics    2022, 40 (1): 58-.   DOI: 10.12372/jcp.2022.21e0827 Abstract （547）      PDF（pc） （1885KB）（371）       Knowledge map    Save Objective To analyze the clinical features of Kawasaki Disease (KD) with arthritis and to explore the differential diagnosis between KD with arthritis and systemic juvenile idiopathic arthritis (SJIA). Methods The clinical data of two KD children with arthritis were retrospectively analyzed and the relevant literature was reviewed. Results One child was admitted witha high fever and abdominal pain complicated with gastrointestinal bleeding and macrophage activation syndrome (MAS), which was improved after hormone therapy. The child developed joint symptoms during the convalescence, and was considered as KD with arthritis. The other patient presented with fever and joint swelling and pain as the first symptoms. After treatment with two intravenous immunoglobulin (IVIG), intravenous methylprednisolone and methotrexate (MTX), the joint symptoms were not relieved significantly, but improved after treatment with recombinant human type II tumor necrosis factor receptor-antibody fusion protein (rhTNFR:Fc), and the child was considered as KD with JIA. Conclusions KD with arthritis and SJIA have high similarities in clinical manifestations. At present, there is no specific laboratory examination to distinguish the two diseases. Long-term clinical observation is needed to establish more precise diagnostic criteria and develop more experimental methods to assist diagnosis. Related Articles | Metrics

Select

Advances in the diagnosis and treatment of neonatal necrotizing enterocolitis ZHU Xueping, QIAN Jihong Journal of Clinical Pediatrics    2022, 40 (9): 641-646.   DOI: 10.12372/jcp.2022.22e1060 Abstract （546）   HTML （70）    PDF（pc） （1168KB）（320）       Knowledge map    Save It is difficult to early identify necrotizing enterocolitis (NEC) and its severity of illness. The Bell staging criteria is widely utilized to diagnose and evaluate the severity of NEC in clinical practice. Thanks to much advancement that have been achieved in molecular biology and neonatology, the preventive and therapeutic strategies for NEC are significantly improved. However, the morbidity and mortality of NEC are still unchanged. In recent years, the combination of omics and clinical data to find relevant biomarkers for early prediction of NEC, the prevention of NEC by breastfeeding and maintenance of gut microbiota homeostasis, and the exploration of stem cell and exosome related treatment have all brought new directions for the diagnosis and treatment of NEC. These means above will bring some new hopes to reduce the morbidity and mortality of NEC and improve its long-term outcomes. Table and Figures | Reference | Related Articles | Metrics

Select

Analysis of etiology and clinical features of left bundle branch block in 43 children LI Wei, HUANG Ping, ZHANG Li, et al Journal of Clinical Pediatrics    2021, 39 (10): 729-.   DOI: 10.3969/j.issn.1000-3606.2021.10.003 Abstract （544）      PDF（pc） （1886KB）（306）       Knowledge map    Save Objective To investigate the etiology, clinical features and prognosis of left bundle branch block (LBBB) in children. Method The clinical data of children diagnosed with LBBB from January 2013 to December 2018 were retrospectively analyzed. Results There were 43 patients with LBBB ( 35 boys and 8 girls), and the median age was 36 months ( 9 - 72 months). There were 36 cases of complete LBBB and 7 cases of left anterior branch block. Cardiac enlargement occurred in 36 cases and cardiac function decreased in 16 cases. Twelve patients had a history of surgery for congenital heart disease (CHD), including ventricular septal defect (VSD) repair in 7 cases and complicated CHD in 5 cases. Closure of VSD was performed in 12 cases. There were 6 cases of cardiomyopathy, 4 cases of myocarditis, 4 cases of CHD before operation, and 3 normal children. There were 1 cases of craniocerebral trauma and 1 cases of drowning. LBBB occurred in 12 cases 1 - 7 days after the closure of VSD. After treatment with methylprednisolone and myocardial nutrition, 8 cases recovered immediately; 4 cases were not recovered after treatment, and sinus rhythm was restored after surgical removal of occluder and repair of VSD from 3 to 8 days after interventional occlusion. LBBB was found in 12 cases of CHD after surgery. After treatment with hormones, nourishing myocardium and other drugs, all 8 cases returned to sinus rhythm, 1 case still had LBBB; 3 cases developed LBBB after repair of VSD, which gradually progressed to degree III atrioventricular block, and permanent cardiac pacemakers were implanted. The median follow-up time was 24 months ( 12 - 49 months). One patient returned to normal early after VSD occlusion, but delayed LBBB appeared at 7 months follow-up. At the end of the follow-up, one patient still had LBBB after surgery for complicated CHD and one patient with fulminant myocarditis still had LBBB accompanied by cardiac enlargement and cardiac dysfunction. One case of dilated cardiomyopathy complicated with LBBB died due to aggravation of heart failure at the age of 2 months. The remaining children had no discomfort, no changes in electrocardiogram, no abnormalities in cardiac function and left ventricular ejection fraction. Conclusions The most common causes of LBBB in children are surgery for CHD and closure of VSD. Clinical diagnosis and treatment should be made as soon as possible, and close follow-up should be conducted. Related Articles | Metrics

Select

Diagnostic approach of neonatal diabetes mellitus WANG Chunlin, LU Huifei Journal of Clinical Pediatrics    2022, 40 (5): 328-333.   DOI: 10.12372/jcp.2022.22e0114 Abstract （544）   HTML （21）    PDF（pc） （1391KB）（341）       Knowledge map    Save Neonatal diabetes mellitus (NDM) is a rare monogenic disease with extensive heterogeneity in clinical phenotypes and genotypes on hidden clinical manifestations, which can easily delay diagnosis. In recent years, with the development of gene detection technology, more pathogenic genes have been gradually recognized. At present, more than 30 gene mutations are known as varied subtypes of NDM for the differences on clinical manifestations and outcomes. Genetic variation or abnormal methylation in chromosome 6q24 imprinting region is the commonest cause of transient neonatal diabetes mellitus (TNDM), and KATP gene mutations (KCNJ11, ABCC8) are the commonest cause of persistent neonatal diabetes mellitus (PNDM). About 90% of NDM children with KCNJ11 or ABCC8 mutations received oral sulfonylureas to maintain stable blood glucose levels. Early treatment can reverse part of the neurodevelopmental delay caused by KCNJ11 mutations, and improve the success rate of insulin conversion to sulfonylureas. Early accurate genetic diagnosis and typing are helpful for precise individualized treatment and prognosis determination. In this paper, genotype-phenotype, treatment and management of NDM were summarized, providing reference for pediatricians in early detection and diagnosis, precise treatment in clinical practice. Table and Figures | Reference | Related Articles | Metrics

Select

Hereditary hypomagnesemia caused by TRPM6 gene variation: a case report and literature review WANG Li, SU Zhe, JIAO Yanhua, et al Journal of Clinical Pediatrics    2021, 39 (10): 765-.   DOI: 10.3969/j.issn.1000-3606.2021.10.012 Abstract （540）      PDF（pc） （1413KB）（148）       Knowledge map    Save Objective To analyze the diagnosis and treatment of hereditary hypomagnesemia. Methods The clinical data of hereditary hypomagnesemia of one child were retrospectively analyzed and the related literatures were reviewed. Results The boy was admitted at 6 months of age due to convulsion caused by hypomagnesemia, and the blood magnesium level was only maintained at about 0 . 6 mmol/L after magnesium supplementation. Whole exome sequencing showed that there were compound heterozygous variations, c. 2495 A>G (p.Tyr 832 Cys) and c. 3357 C>A (p. Cys 1119* ), in TRPM 6 gene. The child was treated with oral magnesium for a long period of time and grew up l during follow-up. Conclusions Compound heterozygous variation in TRPM 6 gene (c. 2495 A>G and c. 3357 C>A) was responsible for hereditary hypomagnesemia 1 (intestinal). Diagnose and treatment for patients in time may avoid irreversible neurocognitive impairment. Related Articles | Metrics

Select

Clinical diagnosis and treatment of 5 cases with congenital mesoblastic nephroma and literature review ZHANG Dongdong, DONG Youhong, YUAN Xiaojun Journal of Clinical Pediatrics    2022, 40 (6): 450-455.   DOI: 10.12372/jcp.2022.21e1185 Abstract （539）   HTML （8）    PDF（pc） （1197KB）（134）       Knowledge map    Save Objective The clinical characteristics, treatment strategies and clinical outcomes of congenital mesoblastic nephroma (CMN) were retrospectively analyzed and CMN diagnosis and treatment were summarized. Methods The age at onset, tumor size, pathological classification, ETV6-NTRK fusion gene, treatment regimens and clinical outcomes of children newly diagnosed with CMN admitted to the Department of Pediatric Hematology/Oncology, Xinhua Hospital from January 2013 to December 2020 were analyzed. Results A total of 5 children with CMN were admitted in 7 years, including 4 boys and 1 girl. The median age of diagnosis was 4.5 months (0.3-11 months). In 3 patients, renal mass was found during obstetric examination, and CMN was diagnosed early after birth, and ETV6-NTRK fusion gene was negative. The CMN diagnosis age was older than 6 months in 2 patients, and the ETV6-NTRK fusion gene was positive. The tumor stages were stageⅠ (1 case), StageⅡ (1 case), and stage Ⅲ (3 cases). Pathological classification was as follows: 1 case was classical, 2 cases were cellular (stageⅡchild with epithelioid type), and 2 cases were mixed. All the children underwent surgery. One child received surgical resection after 2 cycles of neoadjuvant chemotherapy. The stage Ⅲ children received 9 cycles of VAC chemotherapy after surgery. The median follow-up time was 19 months (11-34 months). One stageⅡchild relapsed 1 year after the completion of combined treatment with surgery and chemotherapy, while the rest of the children were disease-free. Conclusions Most children with CMN have a good prognosis after surgery combined with adjuvant chemotherapy. The age of diagnosis is generally less than 1 year old, and some children can be diagnosed early because of obstetric examination. Surgery is still the main treatment, and postoperative follow-up can be applied for stage Ⅰ and Ⅱ patients. Postoperative adjuvant chemotherapy can reduce the recurrence rate in stage Ⅲ cases. Table and Figures | Reference | Related Articles | Metrics

Select

Diagnostic approach on childhood renal dysfunction ZHANG Hongwen Journal of Clinical Pediatrics    2022, 40 (2): 155-159.   DOI: 10.12372/jcp.2022.21e1093 Abstract （536）   HTML （18）    PDF（pc） （1237KB）（397）       Knowledge map    Save Renal dysfunction refers to a variety of situations, including kidney diseases and other diseases, which cause the increase of creatinine and urea nitrogen, accompanied with edema, electrolyte disorder, hypertension and other multiple system related symptoms in some cases. A large proportion of patients were characterized by renal dysfunction as the primary symptom in children. The author summarized the diagnosis approach on childhood renal dysfunction, suggested that the stage on renal function should be based on the same classification standard as in chronic renal disease. Hereditary disease is the most common cause of renal dysfunction in children. Congenital anomalies of the kidney and urinary tract, which might be mainly results from developmental abnormalities, represent a broad spectrum of disorders. Table and Figures | Reference | Related Articles | Metrics

Select

Clinical and genetic analysis of hyper-IgE syndrome in two patients REN Liying, LIU Haichao, GUO Qi Journal of Clinical Pediatrics    2021, 39 (10): 779-.   DOI: 10.3969/j.issn.1000-3606.2021.10.016 Abstract （535）      PDF（pc） （1414KB）（148）       Knowledge map    Save Objective To explore the clinical and genetic features of hyper-IgE syndrome with recurrent infection caused by DOCK8 gene variation. Methods The clinical data of hyper-IgE syndrome in 2 children were analyzed retrospectively, including whole exome sequencing, Sanger verification of pathogenic site, and the expression level of DOCK8 gene in peripheral blood. Results Both children, 1 boy and 1 girl aged 5 years 2 months and 4 years 8 months respectively, were visited for recurrent infection, persistent rash or pustules. The children had no special facial features. The serum IgE level was significantly increased, and the eosinophils in peripheral blood were significantly increased. There were compound heterozygous variants of IVS2+1G>A and c.1729G>A (p.A577T) in DOCK8 gene of the girl, which came from her parents respectively. The DOCK8 gene of the boy had compound heterozygous variation of paternal C.2248G>A (p.E750K) and maternal C.1685T>G (p.L562R). Bioinformatics analysis showed that the three missense variants of p. A 577T, p.E 750K and p.L 562R were conserved among different species. The results of real-time PCR showed that the expression level of DOCK8 gene in peripheral blood of the girl decreased significantly. Conclusion DOCK8 gene variation is a common cause of hyper-IgE syndrome with recurrent infection, which expands the DOCK8 gene variation spectrum. Related Articles | Metrics

Select

Clinical application of glomerular filtration rate in children GAO Chunlin Journal of Clinical Pediatrics    2022, 40 (12): 886-893.   DOI: 10.12372/jcp.2022.22e1222 Abstract （526）   HTML （17）    PDF（pc） （1455KB）（179）       Knowledge map    Save Glomerular filtration rate (GFR) is one of the important indicators to measure renal function status. It is used in the clinical diagnosis of chronic kidney disease (CKD) and its staging, selection of kidney transplant donors, setting of endpoint events in scientific research, etc. It is also an indispensable index in the fields of cancer treatment monitoring, clinical drug dose adjustment in ICU critical care treatment, drug toxicity monitoring and new drug development. GFR in children can be assessed by both estimation and detection. The estimation method has clinical practicability. The current equations used for eGFR in children are ethnically and geographically specific, and their accuracy is influenced by the population of the developed dataset. Schwartz 1987 version is widely used in China. It should be noted that this method is a colorimetric method for creatinine determination. Schwartz 2009 equation is also widely used, but its accuracy (P30) in Chinese children with CKD is low, which is less than 80%. New estimating equations from large samples of Chinese children are urgently needed. In cases where accurate GFR is required, the method of measuring GFR is used. This paper introduces the advantages, disadvantages and application status of indicators used to estimate and measure GFR in pediatrics. Table and Figures | Reference | Related Articles | Metrics