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Clinical and molecular characteristics of a child with juvenile Sandhoff disease.

Yonglan HUANG ; Ting XIE ; Jipeng ZHENG ; Xiaoyuan ZHAO ; Hongsheng LIU ; Li LIU

Chinese Journal of Pediatrics.2014;52(4):313-316.

OBJECTIVETo explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease.

METHODWe retrospectively reviewed the clinical, neuroimaging and biochemical findings in this Chinese child with juvenile Sandhoff disease. Hexosaminidase A and hexosaminidase A & B activities were measured in blood leukocytes by fluorometric assay. HEXB gene molecular analysis was performed by PCR and direct sequencing.

RESULTThe 9-year-old boy was admitted for psychomotor regression. He presented slowly progressive gait disorder and dysarthria during the last three years. Cranial MRI revealed a marked cerebellar atrophy with normal intensity in the thalamus and basal ganglia. Brain MRS showed normal in the thalamus and basal ganglia. Hexosaminidase A was 69.5 (mg·h) [normal controls 150-360 nmol/(mg·h)], hexosaminidase A & B activity was 119 nmol/(mg·h)[normal controls 600-3 500 nmol/(mg·h)], confirming the diagnosis of Sandhoff disease. The patient was a compound heterozygote for a novel deletion mutation c.1404delT (p. P468P fsX62) and a reported mutation c.1509-26G>A.

CONCLUSIONThe clinical features of juvenile Sandhoff disease include ataxia, dysarthria and cerebellar atrophy. The enzyme assay and molecular analysis of HEXB gene can confirm the diagnosis of Sandhoff disease. The novel mutation c.1404delT(p. P468P fsX62) is a disease-related mutation.

Brain ; diagnostic imaging ; pathology ; Cerebellar Ataxia ; diagnosis ; enzymology ; genetics ; Child ; DNA Mutational Analysis ; Heterozygote ; Hexosaminidase A ; blood ; metabolism ; Hexosaminidase B ; blood ; metabolism ; Humans ; Leukocytes ; enzymology ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography ; Retrospective Studies ; Sandhoff Disease ; diagnosis ; enzymology ; genetics ; beta-Hexosaminidase beta Chain ; genetics

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Adverse effects of type B ventricular pre-excitation on ventricular wall motion and left ventricular function: clinical analysis of 9 cases.

Baojing GUO ; Chencheng DAI ; Wenxiu LI ; Yanyan XIAO ; Ling HAN

Chinese Journal of Pediatrics.2014;52(4):308-312.

OBJECTIVETo analyze the adverse effects of type B ventricular pre-excitation on ventricular wall motion and left ventricular function and its clinical characteristic.

METHODThe clinical, electrophysiological and echocardiographic characteristics of the 9 cases with type B ventricular pre-excitation before and after ablation seen between March 2011 and March 2013 were analyzed. The patients aged from 3 to 16 years. Five of them were female.

RESULTDyschronous left ventricular contraction was demonstrated by M-Mode echocardiography in all of the cases. The basal segments of the interventricular septum turned thin and moved in a manner similar to that of an aneurysm, with typical bulging during end-systole, which was observed in six cases. All patients received successful RFCAs. The locations of the accessory pathways (APs) were the right-sided anteroseptum (n = 2) and the free wall (n = 7). Their physical activities and growth improved greatly in the four cases with coexisting dilated cardiomyopathy (DCM). The echocardiographic data demonstrated that their LV contraction recovered to synchrony shortly after the ablation, LVEF recovered to normal and LVED decreased to almost normal gradually during the follow-up.

CONCLUSIONOvert right-sided APs may have adverse effects on ventricular wall motion and left ventricular function. They can even result in DCM. Dyssynchronous ventricular contraction induced by right-sided overt accessory pathway may be the vital mechanism. Such kinds of cases are indication for ablation with good prognosis.

Adolescent ; Cardiomyopathy, Dilated ; diagnostic imaging ; etiology ; physiopathology ; Catheter Ablation ; Child ; Child, Preschool ; Echocardiography ; Female ; Heart Ventricles ; physiopathology ; Humans ; Male ; Myocardial Contraction ; Ventricular Dysfunction, Left ; diagnostic imaging ; etiology ; physiopathology ; Wolff-Parkinson-White Syndrome ; complications ; physiopathology

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NPM1 and CEBPA mutations in pediatric cytogenetically normal acute myeloid leukemia.

Min RUAN ; Li ZHANG ; Cong HAN ; Xiaoming LIU ; Xiaofei AI ; Jiayuan ZHANG ; Tianfeng LIU ; Wenyu YANG ; Xiaojuan CHEN ; Ye GUO ; Shuchun WANG ; Qinghua LI ; Yao ZOU ; Yumei CHEN ; Xiaofan ZHU

Chinese Journal of Pediatrics.2014;52(4):303-307.

OBJECTIVETo evaluate the frequency of the nucleophosmin (NPM1) gene and the CCAAT/enhancer binding protein α gene (CEBPA) through polymerase chain reaction (PCR) array in pediatric patients with cytogenetically normal acute myeloid leukemia (CN-AML) and explore the clinical significances of these mutations.

METHODBetween August 2009 and December 2012, 30 children (<16 years old) with newly diagnosed CN-AML were included. The clinical characteristics were analyzed in these patients. PCR combined with direct sequencing was used to detect NPM1, CEBPA gene mutations. All the data were statistically analyzed using SPSS17.0 software.

RESULTThe gene mutations were detected in each of the 30 patients. NPM1 mutation was positive in three patients (10%) with type A mutation, while CEBPA mutation was positive in two patients (6.7%) with double mutations (TAD, bZIP) . Besides, FLT3/ITD mutation was positive in three patients. Patients with NPM1 or FLT3/ITD had a significantly elevated diagnostic WBC count with a median diagnostic WBC count of 102.80×10(9)/L compared with 18.56×10(9)/L for the patients without mutations(t = 2.353, P = 0.043), as well as the marrow blast percentage (94.0% vs. 80.0%, t = 3.804, P = 0.002). The complete remission was achieved in all the 3 patients with NPM1 mutations and 2 patients with CEBPA mutations. All the patients with these mutations also achieved 2-year event-free survival (EFS) and 2-year overall survival (OS), while 2-year EFS and 2-year OS of the other patients were (40.1 ± 11.2)% and (51.8 ± 10.9)% (P = 0.044, 0.091, respectively).

CONCLUSIONNPM1 and CEBPA mutations may indicate a favorable prognosis in pediatric CN-AML.

Adolescent ; CCAAT-Enhancer-Binding Proteins ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Disease-Free Survival ; Female ; Genotype ; Humans ; Infant ; Leukemia, Myeloid, Acute ; genetics ; mortality ; pathology ; Male ; Mutation ; Nuclear Proteins ; genetics ; Prognosis ; Retrospective Studies ; fms-Like Tyrosine Kinase 3 ; genetics

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Role of the twenty-four-hour esophageal multichannel intraluminal impedance-pH monitoring in preterm infants.

Juan ZHANG ; Zailing LI ; Ying GE ; Kun WANG ; Zhijie XU ; Zhiwei XIA ; Liping DUAN

Chinese Journal of Pediatrics.2014;52(4):298-302.

OBJECTIVETo evaluate the clinical application of 24-hour esophageal multichannel intraluminal impedance-pH monitoring technique in preterm infants.

METHODThis study enrolled 28 preterm (male 20, female 8) infants with symptoms suggestive of gastroesophageal reflux (GER) (frequent regurgitations, apnea, or transcutaneous oxygen saturation decreased). They had postmenstrual age from 26 to 32 weeks, median (28.9 ± 1.9)weeks, had birth weight from 850 to 1 700 g, median (1 250.4 ± 272.8)g, range 850-1700 g, and were studied at corrected gestational age from 28 to 40 weeks, median (34.5 ± 2.3)weeks. Combined measurement of esophageal pH and impedance was performed. The 24-hour pH-impedance recording was uploaded onto a portable storage card and for computer-assisted manual analysis, using a specialized software program. When values were distributed normally, they were presented as mean and standard deviation, compared using t test. When values were not distributed normally, they were presented as median, minimum and maximum. Median values were compared using the Mann-Whitney U non-parametric test. SPSS 17.0 software was used.

RESULTIn 28 preterm infants, 71.4% (20/28) had pathological acid refluxes with pH monitor, while 100% with combined measurement of esophageal pH and impedance. Gestational age, birth weight, corrected gestational age had no association with acid GER. Frequent regurgitations, apnea, or transcutaneous oxygen saturation decreased but there was no statistically significant difference between acid GER group and non-acid GER group. Eight cases had no pathological acid refluxes, but showed an increase of weakly acid refluxes than pathological acid refluxes group (P < 0.01) . The median number of reflux events in 24 hours for 28 cases was 64.5 (0-377) , 23.4% were acidic, while 76.4% were weakly acidic; 59.1% were liquid bolus refluxes, while 40.9% were mixed bolus refluxes. The positive ratio of symptoms related index and symptoms association probability were significantly increased combined measurement of esophageal pH and impedance versus pH monitor were used.

CONCLUSIONThe 24-hour esophageal impedance-pH monitoring technique was safe and had good tolerance. We confirmed that it detected more weakly acidic refluxes, liquid bolus refluxes, and mixed bolus refluxes. And it provided more evidence for explaining the relationship between GER and clinical manifestation.

Electric Impedance ; Esophageal pH Monitoring ; Esophagus ; physiopathology ; Female ; Gastric Acidity Determination ; Gastroesophageal Reflux ; diagnosis ; physiopathology ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases ; diagnosis ; physiopathology ; Male ; Monitoring, Physiologic ; methods ; Sensitivity and Specificity

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Study on concordance of ictal and interictal epileptiform activity in patients with tuberous sclerosis complex.

Zhixian YANG ; Qinghui GUO ; Jiaxin ZHUANG ; Xiaoyan LIU ; Hui XIONG ; Ye WU ; Shuang WANG ; Xingzhi CHANG ; Yuehua ZHANG ; Xinhua BAO ; Yuwu JIANG ; Jiong QIN

Chinese Journal of Pediatrics.2014;52(4):292-297.

OBJECTIVETo analyze the relationship between the ictal onset zone and dominant interictal epileptiform foci in tuberous sclerosis complex (TSC) patients.

METHODClinical data of 20 patients with TSC which had epileptic seizures during Video-EEG monitoring was assessed. Consistency and dominance of focal interictal epileptiform activity and the ictal onset zone were identified. Concordance between interictal and ictal findings was analyzed.

RESULTOf the 20 patients, 7 were female, and 13 were male. The age of epilepsy onset was from 15 d to 6 years. The Video-EEG monitoring age was from 6 months to 11 years. Family history was found in three cases. Abnormality in neuroimaging existed in 17 of 18 patients who were examined. Interictal EEG showed hypsarrhythmia in 3 patients, multifocal epileptiform activity with a dominant focus in 12 patients, both focal and generalized discharges in 2 patients, and only focal discharges in 3 patients. The seizures types during EEG monitoring included epileptic spasms, partial seizure, atypical absence, and generalized or focal myoclonic seizure. The most common seizure type was partial seizure and then epileptic spasms. EEG in 4 patients with epileptic spasms showed ictal generalized discharges and interictal hypsarrhythmia or generalized discharges. Clinical manifestation of epileptic spasms was asymmetric in 3 patients. Lateralization and location of interictal and ictal discharges were consistent in 2 of the 3 patients, while only lateralization consistency in 1 of the 3 patients. Partial seizures as the only seizure type were monitored in 13 patients. Of the 13 patients, lateralization and location of interictal and ictal discharges were inconsistent in 2 patients (15%), consistent in 8 patients (62%), lateralization or location consistent in 2 patients (15%). One case could not be analyzed because of uncertainty of lateralization and location of seizure onset.

CONCLUSIONIn the majority of patients with TSC, multifocal interictal epileptiform activity is present, in which a most dominance of focal epileptiform activity could be found. For some epileptic seizures or the majority of partial seizures, the ictal onset zone is concordant with the dominance of focal interictal epileptiform foci. The concordance might have positioning reference significance for preoperative evaluation of epilepsy surgery.

Brain ; pathology ; physiopathology ; Brain Mapping ; methods ; Cerebral Cortex ; pathology ; physiopathology ; Child ; Child, Preschool ; Electroencephalography ; statistics & numerical data ; Epilepsies, Partial ; diagnosis ; etiology ; physiopathology ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Predictive Value of Tests ; Retrospective Studies ; Seizures ; diagnosis ; etiology ; physiopathology ; Tuberous Sclerosis ; complications ; diagnosis ; physiopathology

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Therapeutic effects of exercise-based treatment programme on children with attention-deficit/hyperactivity disorder.

Jun ZHANG ; Feiqiu WEN ; Jianan ZHANG ; Jinli XIAO ; Wei ZHANG ; Keying ZHOU ; Yanzhao CHEN

Chinese Journal of Pediatrics.2014;52(4):287-291.

OBJECTIVETo evaluate the effects of an exercise-based treatment programme (dyslexia, dyspraxia and attention-deficit treatment, DDAT) on various subtypes of attention-deficit/hyperactivity disorder (ADHD).

METHODNinety-one ADHD children with standing balance dysfunction (ADHD-I 43, ADHD-HI 15 and ADHD-C 33) were given DDAT for 6 months, the efficacy of DDAT was evaluated before DDAT, three, six months after the treatment and three month after end of the treatment according to SNAP-IV, before and after the treatment by balancing function test and Conners Parents Rating Scale.

RESULTInattention subscale scores of ADHD-I, ADHD-HI and ADHD-C before and after the interventions were 1.99 ± 0.34, 0.96 ± 0.31, 2.17 ± 0.31and 1.19 ± 0.45, 0.81 ± 0.28, 1.32 ± 0.37, differences of ADHD-I and ADHD-C were significant (P < 0.05), hyperactivity subscale scores of three subtypes of ADHD were 0.81 ± 0.35, 2.01 ± 0.35, 1.96 ± 0.33 vs.0.45 ± 0.33, 0.79 ± 0.41, 1.10 ± 0.35, there were significant differences as well (P < 0.05). The score of hyperactivity symptom was reduced more compared to that of inattention symptom by the SNAP-IV scale parent forms. There were significant difference before and after the treatment based on Conners parent scale for conduct problem (1.11 ± 0.48 vs. 0.76 ± 0.44) , learning problem (1.97 ± 0.58 vs.1.60 ± 0.67), psychosomatic problems (0.61 ± 0.49 vs. 0.29 ± 0.35) , activity/ hyperactivity (1.46 ± 0.69 vs.1.09 ± 0.55) and anxiousness (1.05 ± 0.63 vs.0.62 ± 0.47) as well (P < 0.05); the standing balance dysfunction improved for most of the children, total effective rate was 87.9%, no significant difference was found among the three subtypes (P > 0.05).

CONCLUSIONDDAT is a safe and efficient intervention for the ADHD children with standing balance dysfunction, the improvement on hyperactivity symptom was better than that on inattention symptom. This study shows that an exercise-based treatment programme for cerebellum function improves symptoms of ADHD and balance function.

Adolescent ; Anxiety ; physiopathology ; therapy ; Attention Deficit Disorder with Hyperactivity ; physiopathology ; therapy ; Cerebellum ; physiopathology ; Child ; Exercise ; physiology ; Female ; Humans ; Impulsive Behavior ; physiopathology ; therapy ; Learning Disorders ; physiopathology ; therapy ; Male ; Postural Balance ; physiology ; Psychiatric Status Rating Scales ; Surveys and Questionnaires ; Treatment Outcome

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Comparison of the risk factors for asthma in children between urban and rural areas in Fuzhou City.

Suping TANG ; Shibiao WANG ; Jianyun ZHENG ; Yanlin LIU ; Chao CHENG ; Minjun ZHANG ; Wenjing YE ; Shen CHEN ; Li DONG ; Hongchao CHEN ; Huabo QIU ; Dian LI ; Yunhan HUA ; Yihua GUO

Chinese Journal of Pediatrics.2014;52(4):282-286.

OBJECTIVETo explore the prevalence and the different risk factors for asthma in children between urban and rural areas in Fuzhou, Fujian province.

METHODThe epidemiological survey of asthma in 0-14 years old children was conducted from October 2009 to October 2010 between Fuzhou urban and rural areas in Fujian province. The investigation subjects were selected in urban and rural areas by phased stratified random cluster sampling. The 2010 third national epidemiological survey questionnaire of children with asthma was used for screening for possible patients. Diagnosis of asthma was confirmed by physical examination. The children with asthma were designated as the positive cases, while non asthmatic children who were age, gender, ethnic, and living environment matched with asthmatic patients were designated as negative control. Comparison of the prevalence of asthma in children between Fuzhou urban and rural areas was performed. The influencing factors of asthma were analyzed and screened by the regression equation model of two element Logistic regression.

RESULTTotally 12 235 questionnaires of children with asthma and allergic disease screening were issued and 11 738 questionnaire were sent back (6 221 were male and 5 517 were female). The return rate was 95.9% in urban Fuzhou; 648 children were diagnosed as asthma. The prevalence of asthma in male was 6.48% and female children was 4.44% (comparison of the prevalence of gender χ(2) = 23.267, P < 0.001) in urban areas . A total of 6 000 questionnaires of children with asthma and allergic disease screening were sent out and 5 860 were responded (male children 3 228, female children 2 632). The recovery rate was 97.7% in rural Fuzhou; 135 children with asthma was diagnosed. The prevalence of asthma in male was 2.73%and female children and was 1.79%. Adding protein supplement before 6 months (OR = 1.908, 95%CI:1.233-2.959), the use of antibiotics in the treatment of asthma (OR = 14.541, 95%CI:8.920-23.705), furniture materials (non wood) (OR = 2.432, 95%CI:1.563-3.785) were the main risk factors of children with asthma in urban. Adding protein supplement before 6 months(OR = 3.021, 95%CI:1.357-6.711), the use of antibiotics in the treatment of asthma(OR = 14.784, 95%CI:3.842-56.885), the use of coal as fuel (OR = 63.339, 95% CI: 7.993-501.943), domesticated livestock (OR = 13.659, 95% CI:1.342-139.068), the family smoking before and after birth (OR = 6.226, 95%CI:2.674-14.495) and chemical fiber pillow (OR = 3.638, 95%CI:1.241-10.666) were the main risk factors of children with asthma in rural areas.

CONCLUSIONThe prevalence of children with asthma in urban areas was higher than that in rural areas. The prevalence of asthma in male children was higher than in female children. Adding protein food supplement before 6 months, the use of antibiotics and non solid wood furniture material were the main risk factors in children with asthma in urban areas. Adding protein supplement before 6 months, the use of antibiotics, domesticated livestock, the use of coal as fuel and the family smoking before and after birth were the main risk factor of asthma in children in rural areas.

Adolescent ; Anti-Bacterial Agents ; administration & dosage ; adverse effects ; Asthma ; epidemiology ; etiology ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Infant ; Logistic Models ; Male ; Prevalence ; Risk Factors ; Rural Population ; statistics & numerical data ; Sampling Studies ; Smoking ; adverse effects ; Surveys and Questionnaires ; Urban Population ; statistics & numerical data

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Exploring the clinical significance of continuously measuring apparent diffusion coefficient values in the preterm infants with punctate white matter damage by applying diffusion weighted imaging.

Xin TONG ; Xindong XUE ; Jianhua FU

Chinese Journal of Pediatrics.2014;52(4):277-281.

OBJECTIVETo observe the dynamic changes of MRI in the preterm infants with punctate white matter damage (PWMD), and to explore the clinical significance of apparent diffusion coefficient (ADC) values by continuously measuring the lesions and surrounding region by applying diffusion weighted imaging (DWI).

METHODMRI, using conventional and diffusion weighted imaging, was performed in 151 preterm infants within 7 days after birth between October 2010 to June 2011 in NICU. Twenty-four preterm infants with PWMD and 24 controls were obtained according to their MRI results. The control group infants were those with normal MRI results and at the same gestational age as those with PWMDs. The ADC value was measured for the lesions and their surrounding regions, and for the same sites of the controls. All the PWMD were followed up for 2-5 weeks, and apparent diffusion coefficients were measured at the same regions. The variation of magnetic resonance imaging was observed and the apparent diffusion coefficients were compared.

RESULTThe first MRI scanning: in the 24 cases with PWMD, high signals on DWI were seen in all patients (100%), increased signal intensity on T1-weighted images were seen in 19 (79.2%) patients, increased signal intensity on T1-weighted images and decreased signal intensity on T2-weighted images were seen in 4 (16.6%) patients. The second MRI scanning: in the 24 cases with PWMD, The high signal on DWI vanished in all patients (100%), the increased signal intensity on T1-weighted images vanished in 9 (39.1%) patients, the increased signal intensity on T1-weighted images did not vanish but was smaller than before in 14 (60.9%) patients. The measurement of ADC values: the mean ADC value of the lesions in the group of PWMD was (942 ± 170)×10(-3)mm(2)/s, significantly lower than the area surrounding (1 554 ± 116)×10(-3)mm(2)/s and the same area of the control group (1 524 ± 116)×10(-3)mm(2)/s ( P < 0.05). The second MRI scanning: the mean ADC of the lesions in the PWMD group was up to (1 468 ± 195)×10(-3)mm(2)/s, which is significantly higher than before, but still lower than the areas surrounding the lesion (1 586 ± 97)×10(-3)mm(2)/s (P < 0.05).

CONCLUSIONContinuous measurement of ADC values in the lesions and surrounding areas is important to describe the micro-change of PWMD.

Apnea ; diagnosis ; pathology ; Birth Weight ; Brain ; pathology ; Brain Diseases ; diagnosis ; pathology ; Case-Control Studies ; Diffusion Magnetic Resonance Imaging ; methods ; Female ; Humans ; Image Enhancement ; methods ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases ; diagnosis ; pathology ; Male

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Advances in studies on hemophagocytic lymphohistiocytosis.

Zebin LUO ; Yongmin TANG

Chinese Journal of Pediatrics.2014;52(4):267-270.

DNA Mutational Analysis ; Diagnosis, Differential ; Humans ; Lymphohistiocytosis, Hemophagocytic ; diagnosis ; genetics ; therapy ; Mutation ; genetics ; Perforin ; Pore Forming Cytotoxic Proteins ; genetics ; Qa-SNARE Proteins ; genetics

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Advances in research on the relationship between vitamin D and sleep.

Luanluan LI ; Xiaodan YU

Chinese Journal of Pediatrics.2014;52(4):263-266.

Brain ; physiology ; Child ; Dyssomnias ; drug therapy ; epidemiology ; etiology ; Humans ; Infant ; Sleep ; drug effects ; Vitamin D ; administration & dosage ; analogs & derivatives ; blood ; Vitamin D Deficiency ; complications ; drug therapy ; epidemiology

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