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Table of Content

    15 July 2021 Volume 39 Issue 7
      
    contents
    Journal of Clinical Pediatrics. 2021, 39(7):  480.  doi:10.3969/j.issn.1000-3606.2021.07.000
    Abstract ( 208 )   PDF (539KB) ( 99 )  
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    Catheter-related bloodstream infections in children with short bowel syndrome: a single-center retrospective study
    YUAN Chenling, LI Xiaolu, HU Hui, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  481.  doi:10.3969/j.issn.1000-3606.2021.07.001
    Abstract ( 331 )   PDF (1123KB) ( 212 )  
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    Objective To explore the incidence and risk factors of catheter-related bloodstream infection (CRBSI) in children with short bowel syndrome (SBS). Methods The clinical data of SBS in 19 children admitted from August 2015 to December 2019 was retrospectively analyzed and the incidence of CRBSI and related risk factors were evaluated. Results Among the 19 children with SBS, the catheterization was performed 57 times, and the total catheterization days were 1907 days. CRBSI occurred 11 times in 6 children, with an incidence of 5 . 8 times per 1000 catheter days. The common manifestations of the SBS children with CRBSI were fever ( 6 / 11 , 54 . 5 %), lethargy ( 5 / 11 , 45 . 4 %), stagnation of weight ( 7 / 11 , 63 . 6 %) and increment of enterostomy fluid ( 7 / 11 , 63 . 6 %). Compared with the non-CRBSI group, the proportion of ileocecal valve loss and the duration of parenteral nutrition ≥ 120 days in the CRBSI group were higher, and the differences were statistically significant (P< 0 . 05 ). A total of 11 positive results were obtained in blood culture of children with SBS when CRBSI occurred, and the most common pathogenic microorganism was Klebsiella pneumoniae ( 6 / 11 , 54.55%). Conclusions The occurrence of CRBSI may be related to ileocecal valve loss and long duration of parenteral nutrition.
    The transcription factor FOXP2 regulates the expression of genes related to Hirschsprung disease by bioinformatics analysis
    LU Yanjiao, CUI Mengmeng, YU Wenwen, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  486.  doi:10.3969/j.issn.1000-3606.2021.07.002
    Abstract ( 390 )   PDF (1433KB) ( 216 )  
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    Objective To explore the transcription factors involved in the development of the enteric nervous system and the pathogenesis of Hirschsprung disease (HSCR). Methods The ChEA 3 database was used to do analysis of prediction and enrichment of the target transcription factors that regulate the expression of HSCR susceptibility genes. The GeneMANIA online tool was utilized to construct a protein-protein interaction network diagram between transcription factors and target genes for exploration of their possible regulatory molecular pathways. Human Protein Atlas database was used to locate the protein expression of transcription factors and explores their expression in the nervous system and colon. Quantitative real-time polymerase chain reaction (qRT-PCR) analysis was performed to verify the expression differences of related transcription factors in the stenotic and dilated bowel specimens of 30 children with HSCR. Results The ChEA 3 database was used to analyze prediction and enrichment of the transcription factors of 119 reported HSCR susceptibility genes, and it was found that FOXP2 can target 46 of them. Analysis in the GeneMANIA database shows that FOXP2 may regulate the expression of multiple HSCR susceptibility genes, co-expression with GLI 3 of the Hedgehog pathway, and genetic interaction with PTCH 1 . Human protein Atlas database analysis shows that FOXP 2 protein is highly expressed in brain neuronal cells and colon tissues. The median age of 30 children ( 23 boys and 7 girls) with HSCR was 1 year. The qRT-PCR results showed that the expression of FOXP2 mRNA in pathological tissues was lower than that in adjacent normal tissues, and the difference was statistically significant (t= 5 . 82 , P< 0 . 0001 ). Conclusions FOXP2 may influence the development of intestinal nerve cells through the regulation of Hedgehog signaling pathway, and thus contribute to the pathogenesis of HSCR.
    Clinical and genetic analysis of two cases with progressive familial intrahepatic cholestasis
    HE Jiaqian, SUN Changyu, QIAO Fangfang, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  491.  doi:10.3969/j.issn.1000-3606.2021.07.003
    Abstract ( 460 )   PDF (1628KB) ( 227 )  
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    Objective To explore the clinical and genetic characteristics of progressive familial intrahepatic cholestasis (PFIC). Method Clinical data and genetic results of the patients were retrospectively analyzed. Peripheral blood samples were collected, and genomic DNA was extracted, whole exome sequencing (WES) was used to identify the genetic cause. Results Case 1, a 15 years old female, presented with jaundice, skin itching, white sticky stools, accompanied by splenomegaly; case 2 , a 3 years and 6 months old male, manifested as jaundice and skin itching. WES analysis revealed compound heterozygous mutations of c.2652 G>C from the father and c.1573 C>T from the mother in the ATP 8 B 1 gene of patient 1 . c.2652 G>C is a novel mutation which has not been reported before. In case 2 , WES identified a homozygous missense mutation of c.2606 A>C in the ABCB 11 gene, which were inherited from his parents. Conclusion The diagnosis of progressive familial intrahepatic cholestasis needs to combine clinical manifestations, histopathological findings and genetic testing, and to exclude other related diseases that lead to cholestasis; genetic testing is helpful for confirming the diagnosis and treatment of PFIC. The mutations reported in this paper enriched the pathogenic mutation spectrum of ATP 8 B 1.
    Endoscopic fenestration for duodenal duplication in children: a case report and literature review
    LIANG Defeng, GENG Lanlan, REN Lu, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  495.  doi:10.3969/j.issn.1000-3606.2021.07.004
    Abstract ( 646 )   PDF (1441KB) ( 187 )  
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    Objective To explore the clinical manifestations and endoscopic treatment of duodenal duplication in children. Method The clinical data of duodenal duplication in a child was analyzed retrospectively. Result A 13 -year-old boy presented with recurrent abdominal pain for 4 years. Blood amylase and lipase were elevated, and abdominal CT showed cystic mass, so the child was diagnosed with duodenal duplication. After endoscopic fenestration treatment, the child’s abdominal pain disappeared, and the incision healed well at the six-month follow-up. Conclusion Duodenal duplication is a rare malformation of the digestive tract. Under certain conditions, endoscopic fenestration can be the first choice for treatment.
    Acute urticaria with peptic ulcer hemorrhage in children: report of 2 cases and literature review
    ZHANG Meng, WU Cheng, DAI Qing, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  498.  doi:10.3969/j.issn.1000-3606.2021.07.005
    Abstract ( 581 )   PDF (1357KB) ( 197 )  
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    Objective To explore the clinical characteristics, diagnosis and treatment of acute urticaria with gastrointestinal hemorrhage in children. Methods The clinical data of acute urticaria with massive gastrointestinal hemorrhage during treatment in 2 cases were analyzed retrospectively, and the related literature was reviewed. Results Case 1 was an 11 -year-old boy and case 2 was a 2 -year- and 10 -month-old girl. Both of them presented with rash, abdominal pain, hematemesis and melena. After treatment, the rash basically subsided in case 1 and a little patchy rash remained in case 2 . However, both patients still had anemia of different degrees, and gastroscopy showed peptic ulcer. Both children suffered from massive gastrointestinal hemorrhage. Case 1 failed to stop bleeding effectively after drug treatment, interventional treatment and emergency surgery, and later died of secondary disseminated intravascular coagulation and multiple organ failure; case 2 stopped bleeding after medical treatment, interventional treatment and surgical treatment. Conclusions Acute urticaria is vulnerable to be complicated with massive gastrointestinal hemorrhage. After drugs, endoscopic hemostasis and surgical treatments, the bleeding can be effectively controlled. If not, serious complications are prone to occur.
    The association between mode of delivery and neuropsychological development of children: a birth cohort study
    ZHAO Yanjun, CHEN Qian, LIU Han, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  501.  doi:10.3969/j.issn.1000-3606.2021.07.006
    Abstract ( 268 )   PDF (1142KB) ( 142 )  
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    Objective To explore the association between mode of delivery and neuropsychological development in children. Methods In 2013 and 2014 , neuropsychological development in 651 children of 12 months old and 24 months old was evaluated using the Ages and Stages Questionnaires from five functional areas including communications skills, gross motor, fine motor, problem solving and personal social in a prospective maternal infant cohort study. The children delivered by cesarean section were included in the exposure group, and children delivered by vagina were included in the control group. Multivariate logistic regression analysis was used to evaluate the correlation between delivery mode and children’s neuropsychological development as well as the strength of the association. Results The incidence of neuropsychological development retardation in children of 12 months old and 24 months old was 3 . 94 % and 13 . 12 % respectively. Cesarean section has no significant effect on neuropsychological development of children aged 12 months. After adjusting for the confounding factors such as gestational hypertension, gestational diabetes, and family income, the children delivered by cesarean section had a significantly increased risk of developmental retardation in the communication skills at 24 months of age, 3 . 37 times higher than that in the vaginal delivery group ( 95 %CI: 1 . 02 ~ 10 . 5 , P< 0 . 05 ). Conclusions Cesarean section may increase the risk of developmental retardation in the communication skills at 24 months of age.
    Study on clinical high-risk factors of intellectual disability in children with tuberous sclerosis complex
    DING Yifeng, ZHOU Yuanfeng, YU Lifei, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  506.  doi:10.3969/j.issn.1000-3606.2021.07.007
    Abstract ( 357 )   PDF (1142KB) ( 251 )  
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    Objective To explore the clinical high-risk factors of intellectual disability in tuberous sclerosis complex (TSC). Methods The clinical data of children aged 6 - 16 years old with TSC from December 2016 to November 2020 were retrospectively analyzed. The Wechsler Intelligence Scale for Children in Chinese was used to assess intellectual development, and the Mini International Neuropsychiatric Interview for Children (MINI-KID) was used to screen and diagnose TSC-associated neuropsychiatric disorders. Binary logistic regression analysis was used to find the high risk factors for intellectual disability. Results A total of 95 children were enrolled, and TSC1 /TSC 2 gene variation was detected in 85 cases ( 89 . 4 %), including 27 cases of TSC1 gene variation and 58 cases of TSC2 gene variation. Sixty-seven ( 70 . 5 %) children had an intellectual disability (IQ≤ 70 ). Epilepsy occurred in 76 children ( 80 . 0 %). Seventy-nine patients ( 83 . 2 %) suffered from TSC-associated neuropsychiatric disorders, and 16 kinds of neuropsychiatric disorders were identified. TSC-associated neuropsychiatric disorders, epilepsy, use of a greater number of antiepileptic drugs (≥ 2 ), an earlier age of epilepsy onset (< 2 years), more frequent seizure frequency (more than once a month) were closely related to the occurrence of intellectual disability (P< 0 . 05 ). Conclusions Intellectual disability is one of the most common and major characteristics of TSC. Neuropsychiatric disorders and epilepsy are high-risk factors for intellectual disability in children with TSC.
    Treatment strategy for Carpentier C-type Ebstein’s anomaly in children
    QIN Rong, WANG Tingting, ZHOU Xu, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  511.  doi:10.3969/j.issn.1000-3606.2021.07.008
    Abstract ( 372 )   PDF (1099KB) ( 153 )  
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    Objective To explore the application of three different surgical methods in Carpentier C-type Ebstein’s anomaly (EA). Methods The clinical data of Carpentier C-type EA in 39 children who underwent surgery from June 2011 to August 2017 were retrospectively analyzed. Results A total of 39 children (18 boys and 21 girls) with Carpentier C-type EA were included. The median age was 28.3 (11.7-63.4) months and the median weight was 12.6 (8.7-19.2) kg. Among them, 13 patients underwent cone reconstruction (CR) surgery only (group A), 18 patients underwent CR combined with bidirectional cavo-pulmonary shunt (BCPS, group B), and 8 patients only underwent BCPS (group C). There were significant differences in the proportion of preoperative cyanosis and cardiac function classification among the three groups (P< 0 . 05 ). The children in group C had a higher proportion of preoperative cyanosis and worse cardiac function (grade Ⅲ and Ⅳ). The differences in the cardiopulmonary bypass (CPB) time, aortic cross-clamp (ACC) time, mechanical ventilation time, ICU stay time, postoperative hospital stay, incidence of low cardiac output syndrome, treatment cost during hospitalization and follow-up time among the three groups were statistically significant (P< 0 . 05 ). Pairwise comparisons showed that the CPB time, ACC time, mechanical ventilation time, ICU stay time, and postoperative hospital stay of group B were longer than those of group C, while the treatment cost during hospitalization of group C was higher than that of group A, and the differences were statistically significant (P
    Clinical analysis of endocardial or epicardial pacing in 24 infants weighing less than 8 kilograms
    LIU Yue, JI Wei, CHEN Yiwei, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  516.  doi:10.3969/j.issn.1000-3606.2021.07.009
    Abstract ( 285 )   PDF (1091KB) ( 124 )  
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    Objective To explore the strategy of pacemaker treatment in children weighing less than 8 kg. Methods The clinical data of 24 patients weighing less than 8 kg who underwent permanent pacer implantation in Shanghai Children's Medical Center from 2009 to 2019 were retrospectively analyzed. Results The median age of the 24 children ( 16 boys and 8 girls) was 6 . 5 months ( 1 - 22 months), the median weight was 6 . 4 kg ( 2 . 4 - 7 . 9 kg), and the median postoperative follow-up time was 20 . 5 months ( 1 - 120 months). Endocardial pacing was performed in 15 cases and epicardial pacing was performed in 9 cases. After endocardial pacing, capsular infection occurred in 3 of the 15 children and manifestations were local capsular hematoma, exudation, and surgical incision dehiscence respectively. All three children received intravenous anti-infective therapy. Two cases with exudation and surgical incision dehiscence underwent pocket debridement and re-embedded generator; the other one refused debridement. After endocardial pacing, 3 cases underwent second operation due to abnormal pacemaker function. In one case, the lead was replaced 3 months after operation due to tricuspid regurgitation. The lead and generator were replaced 6 years after operation in 1 case due to poor pacemaker perception. One patient underwent pacemaker implantation due to power depletion 9 years after surgery and the pacing mode was replaced considering that double-chamber pacing might be more in line with physiological characteristics. In 9 children who had epicardial pacing, two underwent second operation due to abnormal function of lead or pacemaker because of premature power depletion and they were replaced with endocardial pacemaker 1 . 5 and 2 years after the operation respectively. Conclusion Permanent pacemaker implantation via endocardium and epicardium for children under 8 kg is feasible, and is safe and effective under strict control indications. However, it needs to watch for capsular infection and tricuspid regurgitation during the operation and follow-up.
    Effect of macrophage knockout on cholestasis in mice with bile duct ligation
    TIAN Xinbei, CHEN Shanshan, WANG Weipeng, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  520.  doi:10.3969/j.issn.1000-3606.2021.07.010
    Abstract ( 343 )   PDF (1711KB) ( 121 )  
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    Objective To explore the effect of macrophages on bile acid metabolism. Methods The cholestasis model was established by ligating the common bile duct of 7 -week-old male CD 11 b-DTR mice. After 2 weeks, the bile acid profile and intestinal flora composition in the liver and colon were measured. Twenty-eight mice were divided into four groups: sham group, sham intervention (DT) group, bile duct ligation (BDL) group and bile duct ligation intervention (BDL+DT) group. Results Compared with the sham group, the contents of primary bile acid and total bile acid in the liver of the BDL group were significantly increased, while the contents of unbound primary bile acid and total bile acid in the liver of the BDL+DT group were significantly decreased compared with the BDL group, and the differences were statistically significant (all P< 0 . 05 ). In colonic contents, BDL+DT group had lower level of binding primary bile acid than that of the BDL group, and the difference was statistically significant (P< 0 . 05 ). The expression level of cyp 7 a 1 , a key enzyme for bile acid synthesis, in the BDL+DT group was lower than that in the BDL group, and the difference was statistically significant (P< 0 . 05 ). Conclusion Conditional macrophage knockout can interfere with cholestasis by changing the structure of intestinal microbiota.
    ALG1 gene-related congenital disorders of glycosylation with infantile spasm: report of 2 cases and literature review
    WANG Qiuhong, ZOU Liping, WANG Yangyang, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  525.  doi:10.3969/j.issn.1000-3606.2021.07.011
    Abstract ( 400 )   PDF (1981KB) ( 181 )  
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    Objective To explore the clinical and genetic characteristics of ALG 1 gene-related congenital disorders of glycosylation (ALG 1 -CDG). Methods The clinical data of 2 children with ALG 1 -CDG were analyzed retrospectively, and the related literatures were reviewed. Results Both were from the same family. The 2 siblings had psychomotor developmental retardation after birth, and suffered from spastic seizures in the early stage, accompanied by microcephaly, hypotonia, inverted nipple, ocular abnormalities, thrombocytopenia and so on. The electroencephalogram showed hypsarrhythmia. Genetic testing indicated that both patients had compound heterozygous variations of c.1129 A>C (p. Met377 Leu) and c. 1263 + 3 A>T in the ALG 1 gene, which were inherited from their parents respectively. Sixty-eight children with ALG 1 -CDG reported in domestic and foreign literature were retrieved, of whom 2 were reported in China. Children with ALG 1 -CDG mainly present with neurological abnormalities such as epilepsy, psychomotor developmental retardation, hypotonia and microcephaly, and other multi-system diseases. Conclusions ALG 1 -CDG can be manifested as infantile spasms. Genetic testing is helpful for diagnosis and genetic counseling. This study extended the ALG 1 phenotype and gene spectrum.
    Anti-N-methyl-D-aspartate antibody receptor encephalitis with aphasia: report of two cases and literature review
    WANG Susu, YI Mingji, ZHANG Ying
    Journal of Clinical Pediatrics. 2021, 39(7):  531.  doi:10.3969/j.issn.1000-3606.2021.07.012
    Abstract ( 251 )   PDF (1113KB) ( 167 )  
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    To explore the clinical characteristics of anti-N-methyl-D-aspartate antibody receptor (antiNMDAR) encephalitis with aphasia as the main symptom. Methods The clinical data of anti-NMDAR encephalitis with aphasia as the main manifestation in 2 children were retrospectively analyzed, and the literature was reviewed. Results In both children, one boy aged 3 years and one girl aged 5 years, the first symptom was aphasia, accompanied by abnormal mental behavior and epilepsy. Blood and cerebrospinal fluid anti-NMDA antibodies were positive in both children. No obvious abnormality was found in both by their brain magnetic resonance imaging. The electroencephalogram of the boy showed spinous and slow waves in bilateral frontal pole, frontal, anterior temporal and midline areas while no obvious abnormality was found in the electroencephalogram of the girl. Both children were treated with immunoglobulin and methylprednisolone, and a nice therapeutic effect was achieved. Conclusion The manifestations of anti-NMDAR encephalitis are various. In children with unexplained aphasia clinicians should be alert to the possibility of anti-NMDAR encephalitis.
    Crouzon syndrome with growth hormone deficiency: a case report and follow-up of recombinant human growth hormone therapy
    SUN Jie, NIU Lele, BAO Pengli, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  533.  doi:10.3969/j.issn.1000-3606.2021.07.013
    Abstract ( 263 )   PDF (2124KB) ( 203 )  
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    Objective To explore the efficacy and safety of recombinant human growth hormone (rhGH) in Crouzon syndrome with growth hormone deficiency (GHD) in a child. Method The clinical data of Crouzon syndrome with GHD in a child treated with rhGH for 2 years were retrospectively analyzed. Results A girl with a height of 98 . 2 cm (G (p.Ser 354 Cys), which was derived from the mother and was known to be a pathogenic variation. The child was diagnosed with Crouzon syndrome. At the same time, the related examinations suggested that the child were complicated with GHD, and the rhGH therapy was given. After 2 years of treatment with rhGH, the child reached 117 cm in height with an average growth rate of 9 . 4 cm per year. During the treatment, cranial magnetic resonance imaging showed that the lateral ventricle and the third ventricle were slightly dilated and no progression. Ophthalmic follow-up showed that the degree of optic disc edema in the left eye was lessened and no adverse reactions were found. Conclusions Short stature may be a phenotype of the Crouzon syndrome. The rhGH treatment can improve the height of children with Crouzon syndrome and GHD without causing adverse reactions such as increased intracranial pressure.
    Mitochondrial complex I deficiency nuclear type 20 caused by a novel variation of ACAD9 gene: a case report and literature review
    CUI Qingyang, CAO Yinli, TANG Chenghe, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  538.  doi:10.3969/j.issn.1000-3606.2021.07.014
    Abstract ( 807 )   PDF (1353KB) ( 247 )  
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    Objective To improve the understanding of the clinical phenotype and genotype of mitochondrial complex I deficiency nuclear type 20 (MC 1 DN 20 ). Methods The clinical data of mitochondrial complex I deficiency nuclear type 20 in a child was analyzed retrospectively and the related literature was reviewed. Results A boy was born with poor spirit and reaction, refractory metabolic acidosis, hyperlactacidemia and liver enlargement. A maternal splicing mutation of c.1278 +1 G>A and a paternal missense mutation of c. 895 A>T were found in ACAD 9 gene by whole exome gene sequencing. No significant mitochondrial gene variation and large fragment variation was found in the second-generation sequencing of mitochondrial gene and multiplex ligation-dependent probe amplification. Conclusion It was found that the c.1278 + 1 G>A splicing mutation and the c.895 A>T missense mutation of the new mitochondrial nuclear gene ACAD9 leads to MC1 DN 20 .
    Aicardi-Goutières syndrome caused by TREX1 gene variation: a case report
    GAO Xiangying, YANG Xuemei, CHEN Hong
    Journal of Clinical Pediatrics. 2021, 39(7):  542.  doi:10.3969/j.issn.1000-3606.2021.07.015
    Abstract ( 684 )   PDF (1659KB) ( 336 )  
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    Objective To explore the clinical and genetic characteristics of Aicardi-Goutières syndrome (AGS) caused by TREX1 gene variation. Method The clinical data of AGS syndrome of neonatal onset in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A female child had fever, feeding difficulties and dyspnea on the second day after birth. She also suffered from special facial features, including sharp head shape, small head circumference ( 30 cm), ocular hypertelorism, narrow palpebral fissure, flat nose, short upper lip, and short mandible. She had low muscle tension of limbs and no abnormal primitive reflex. Cranial CT showed patchy high-density shadow in bilateral basal ganglia and paraventricular area. Cranial MRI showed multiple spot-like short T 1 and T 2 signal shadows in bilateral basal ganglia and paraventricular area. At the age of 3 months, the child had a head circumference of 31 cm, a small jaw, growth retardation ( 52 cm in length, of 4300 g in weight), hepatomegaly and increased liver enzymes. The reexamination of cranial MRI showed abnormal signals in bilateral globus pallidus, bilateral internal and external capsule and corticospinal tract pons as well as brain atrophy. The whole exome gene detection revealed that there were two heterozygous variations of c.457 _c.458insA and TREX1:c.517 C>G in the TREX1 gene of the child, which originated from her parents. Conclusion A case of AGS syndrome of neonatal onset was found.
    Case report of a child with mitochondrial cardiomyopathy caused by mitochondrial tRNA mutation
    QIAN Tianwei, ZHANG Luyan, MOHAMMED OMER MUJTABA, et al
    Journal of Clinical Pediatrics. 2021, 39(7):  546.  doi:10.3969/j.issn.1000-3606.2021.07.016
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    Objective To investigate the clinical features, diagnosis and treatment of mitochondrial cardiomyopathy. Methods We retrospectively analyzed a rare case of cardiomyopathy complicated with epilepsy caused by mitochondrial tRNA mutation and reviewed the related literature. Results A boy of 1 year and 3 months of age was admitted to hospital due to recurrent convulsions. The clinical manifestations were developmental retardation, left atrioventricular enlargement, myocardial hypertrophy, reduced left ventricular systolic function, increased blood lactic acid, and abnormal video electroencephalogram. Genetic testing found that the child carried an m. 4300 A>G mutation in tRNA gene, and he was diagnosed as mitochondrial cardiomyopathy. The metabolism is improved by using cardiotonic drug, diuretic drug, coenzyme Q10 and levocarnitine and antiepileptic drug treatment. At present, the patient was followed up for more than 3 months, his left atrium and ventricle was smaller than before, and the heart function was significantly improved. Conclusions The possibility of mitochondrial cardiomyopathy should be paid attention to when children’s cardiomyopathy is complicated with neurological dysfunction, hyperlactacidemia and other multi-system dysfunction.
    Research progress in primary membranous nephropathy in children
    WANG Ren
    Journal of Clinical Pediatrics. 2021, 39(7):  549.  doi:10.3969/j.issn.1000-3606.2021.07.017
    Abstract ( 299 )   PDF (1083KB) ( 270 )  
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    Primary membranous nephropathy (PMN) is a rare pathological type of nephropathy in childhood. The clinical manifestations are nephrotic syndrome or asymptomatic proteinuria, often accompanied by microscopic hematuria, azotemia or hypertension. The pathological features are glomerular basement membrane thickening with or without spike formation and deposits of granular IgG and complement C 3 along the glomerular capillary loops. In recent years, the incidence of PMN in children has increased, but the pathogenesis of PMN in children is still unclear, and there is no uniform therapeutic protocol. This article summarizes the research status of PMN in recent years.
    Research progress in the relationship between micro-inflammatory state and carotid intima-media thickness in obese children
    ZHAO Xuan
    Journal of Clinical Pediatrics. 2021, 39(7):  553.  doi:10.3969/j.issn.1000-3606.2021.07.018
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    Abnormal secretion of inflammatory cytokines and proteins such as tumor necrosis factor-α, interleukin- 6 , interleukin- 1 β, interleukin- 10 and hypersensitive C-reactive protein in serum of obese children leads to micro-inflammatory state and influences the progression of cardiovascular diseases such as atherosclerosis. Research shows that abnormal structure of carotid artery, especially the increase of carotid intima-media thickness (cIMT), can be early indication for the risk of atherosclerosis and other cardiovascular diseases. This article reviews the relationship between micro-inflammatory state and cIMT in obese children.
    The research progress in biological markers of type 1 diabetes
    ZHOU Huanzhen, WANG Aiping
    Journal of Clinical Pediatrics. 2021, 39(7):  557.  doi:10.3969/j.issn.1000-3606.2021.07.019
    Abstract ( 276 )   PDF (1122KB) ( 233 )  
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    Type 1 diabetes (T 1 D) is an autoimmune disease, and there is still no effective way to prevent and cure it. In clinical practice, early intervention can significantly improve the development process and prognosis of T 1 D, and effective biomarkers are of great significance for early prediction and diagnosis of T1 D. Therefore, in recent years, researchers at home and abroad have devoted themselves to exploring biomarkers related to T1 D, and found and identified some biomarkers that can be used for clinical diagnosis and disease risk prediction of T 1 D, including genetic markers, pancreatic β-cell autoantibodies, T cell biomarkers and emerging “omics” based biomarkers. This paper reviews the established biomarkers of T 1 D and their research progress.