Table of Content

15 November 2014 Volume 32 Issue 11

  

Appropriate use of in vitro techniques in diseases associated with genetic metabolic disorders

ZOU Liping

. 2014, 32(11):  1001.  doi:10.3969 j.issn.1000-3606.2014.11.001

Abstract ( 355 )   PDF (1110KB) ( 441 )  

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Inherited metabolic disorder is a major class of clinical diseases with complexity and difficulty of being diagnosed. Current clinical diagnosis has to rely on the metabolite analysis, gene analysis and enzyme activity (protein function) analysis of these three techniques. We analyse the features of the three diagnostic methods and clinical application of analysis, comparison and induction, to provide some experience and reference that help clinicians to better use of these three techniques. These three ways should be organically combined to form a diagnostic platform for inherited metabolic disorders.

To promote the rational use of drugs in children

LIU Enmei，LU Quan

. 2014, 32(11):  1005.  doi:10.3969 j.issn.1000-3606.2014.11.002

Abstract ( 495 )   PDF (1119KB) ( 476 )  

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The irrational drug use is one of the major public health issues. As children are in growth, their drug absorption, distribution, metabolism, excretion and pharmacodynamic characteristics are different from those in adults, thus more challenges on how to make rational use of drugs in children are seen. In this paper, by analyzing current situation of irrational drug use in children, the definition and standards of the rational drug use, and the measures adopted by WHO and China in promoting rational use of drugs in children, we emphasize here and call for a promotion of the awareness of rational use of drugs in children, and activities in forms of propaganda and health education, popularization of medical science and the medication safety knowledge, guidance for the development of good medication beliefs and habits in public, improvement of the social security administration, maximization of the protection of children's medication safety, and maintenance of children's health rights and interests.

Association of MDR1 gene C3435T and T129C polymorphism in childhood refractory epilepsy

GAO Li, LI Yan,HOU Qiaofang, LIU Yanping, WANG Yan, YANG Liu, SUN Yan, MA Yuanning, ZHENG Feiyang

. 2014, 32(11):  1008.  doi:10.3969 j.issn.1000-3606.2014.11.003

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Objective　To investigate the association between multi-drug resistant 1 (MDR1) gene C3435T and T129C polymorphism with refractory epilepsy in children. Methods A total of 260 children including 60 refractory epilepsy, 100 drugresponsive epilepsy, and 100 healthy children were enrolled. The genotypes for MDR1 polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of the three groups were compared. Results The distribution of TT/TC/CC genotypes and T/C allele frequencies of C3435T showed no significant difference between drug-resistant patients and drug-responsive patients or normal control group (P>0.05). Drug-resistant patients were more likely to have the TC genotype and the C allele at T129C when compared with the drugresponsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.

A case-control study about the preventive effect of magnesium sulfate on hypertention caused by ACTH in the treatment of infantile spasms

LIU Xiuguo,LI Jiuwei,SHI Xiuyu,JU Jun,ZOU Liping

. 2014, 32(11):  1013.  doi:10.3969 j.issn.1000-3606.2014.11.004

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Objective　To examine the preventive effect of magnesium sulfate on hypertension caused by ACTH in the treatment of infantile spasms (IS). Methods 46 children diagnosed as IS were recruited from two hospitals during May, 2011 to October, 2013.23 patients in group A (treatment group) were treated with magnesium sulfate and ACTH in hospital A;another 23 cases in group B (control group) were treated with ACTH only in hospital B. The therapy course was 2 weeks. Results Hypertension was not observed in the treatment group, while 6 children were observed with hypertension in the control group. There was significant difference between the two groups (P<0.05). Conclusions Magnesium sulfate could prevent the incidence of hypertension in the treatment of IS with ACTH, and benefit the completion of treatment course.

An analysis of clinical etiologies about stroke in 157 children

Ning Zeshu, Yang Liming, Jiang Zhi, Chen Bo, Zhang Jie

. 2014, 32(11):  1016.  doi:10.3969 j.issn.1000-3606.2014.11.005

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　Objective　To analyze the potential etiologies and risk factors of childhood stroke. Methods This study retrospectively reviewed the clinical data of 159 children who were admitted from Jan.2006 to Jan.2014. Results The 159 children were composed of 100 boys and 59 girls , with median onset age of 1.8 years (ranged from 1 day to 12 years old) and median peak age of 0.9 years (ranged from 3 months to 2.8 years old). Their initial symptoms included limb hemiplegia,language difficulties and convulsion. The common causes included infections found in 46 cases (central nervous system infection in 32 cases, respiratory and gastrointestinal tract infection in 14 case), head injury in 42 cases, vitamin K deficiency in 29 cases, Moyamoya disease in 8 cases, heart diseases in 11 cases, spontaneous hemorrhage in 11 cases and 12 cases of unknown reason. Infectious diseases were the most common cause of children acute ischemic stroke in toddler period; and vitamin K1 deficiency were the most common cause of children hemorrhage stroke in infancy. The most common region of infarction is basal ganglia and middle cerebral artery in neuronal imaging. The median age at the time of diagnosis was 1.4 days. The median time of inhospital was 28 days. The median apex time was 4.3 days. Conclusions Among 159 cases, acute ischemic stroke is much more common than hemorrhagic stroke in children stroke, and the major risk factors are infections and head injury; Vitamin K1 deficiency is a major risk factor in infants with hemorrhagic stroke.

Clinical and molecular-genetic features and prognosis of mitochondrial encephalopathy in children　

CHEN Jian,ZOU Liping

. 2014, 32(11):  1020.  doi:10.3969 j.issn.1000-3606.2014.11.006

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　Objective　To explore the clinical and molecular-genetic features and prognosis of mitochondrial encephalopathy in children. Methods A total of 11 patients diagnosed with mitochondrial encephalopathy were collected from 2008 to 2013 in Chinese PLA General Hospital, Department of Pediatrics. The clinical manifestations, laboratory tests, muscle pathology and mitochondrial gene sequencing in patients were analyzed and followed-up. Results The onset age of the patients ranged from 6 months to 12 years with the duration of disease from 2 months to 3 years. Of the 11 patients, 6 cases were diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 5 cases with mitochondrial disorder induced by mitochondrial respiratory chain enzyme deficiency. Main manifestations included convulsions, vomiting, headache, mental retardation, paralysis, etc. 10 patients had elevated lactate, and 7 patients had elevated pyruvate; 6 cases showed increased slow wave in EEG background; Cranial MRI showed the damage involved in bilateral basal ganglia in 2 cases, temporal and occipital lobes in 3 cases, , multiple lesions in 2 cases, frontal and parietal occipital lobes in one patient and hypothalamus in one patient; 3 patients were underwent MRA examination, 2 cases were normal, the other showed less shunts in contralateral left artery in the brain; 3 cases who underwent MRS showed lactate peak. 2 cases of children underwent skeletal muscle biopsy, and one case showed abnormal mitochondria accumulation. Mitochondrial respiratory chain complex (I~V) defects test showed complex IV defects in 2 cases, complex V defects in 1 case, and combined defects of complex I+III in 2 case. 5 cases were found with mitochondrial DNA mutations in different sites of white blood cells including T8993G, T8993C, A3243G and 11,777 mutations. Conclusions Clinical manifestation of mitochondrial encephalopathy in children is strongly heterogeneous. Laboratory tests, brain imaging, gene mutation and respiratory chain enzyme examination can help to make early diagnosis and treatment. These diseases have poor prognosis.

Urinary tract infection and aseptic meningitis: a case report with literature review

HU Xiaoyue, XU Xiaohua, HUA Ying

. 2014, 32(11):  1024.  doi:10.3969 j.issn.1000-3606.2014.11.007

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Objective　To analyze and investigate clinical characteristics, pathogenesis and treatment of urinary tract infection and aseptic meningitis. Methods Clinical features and laboratory tests of a two-month-old baby girl with urinary tract infection and aseptic meningitis were reported. Results The patient complained of fever, neck stiffness and a bulging fontanel, accompanied by congestion and abnormal secretion of urethra. The cerebrospinal fluid (CSF) white blood cell count was 30×106/L. The blood culture and the CSF culture were both negative. And the urine culture was positive for Enterococcus faecium. The patient received a 10-day course of intravenous antibiotic therapy. The prognosis is good with no recurrence of the disease. Conclusions Aseptic meningitis can be concomitant with urinary tract infection, The probable hypothesis may be that sterile CSF pleocytosis is mediated by urinary tract infection. Knowledge of this may prevent unnecessary antibiotics therapy for presumed bacterial meningitis.

Outcome of childhood B-cell acute lymphoblastic leukemia treated with SCMC-ALL-2005 protocol

XU Huijuan, JIANG Jian, ZHONG Ren, LI Xuerong, LU Yuan, TANG Jingyan, JIANG Hui, YUAN Xiaojun, WANG Ningling, SUN Lirong

. 2014, 32(11):  1028.  doi:10.3969 j.issn.1000-3606.2014.11.008

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Objective　To analyze the outcome of childhood B-cell acute lymphoblastic leukemia treated(ALL) with SCMC-ALL-2005 protocol. Methods Newly diagnosed B-cell ALL from May 1, 2005 to April 30, 2009 in five hospitals were treated and followed up according to SCMC-ALL-2005 protocol. Results A total of 601 cases with newly diagnosed B-cell ALL were enrolled. Among them, 539 cases (89.68%) were followed up until September 30, 2011. In 601 patients, there were 284 low-risk cases (LR group), 231 moderate-risk cases (MR group) and 86 high-risk cases (HR group) which were treated with SCMC-ALL-2005 protocol. The total complete remission rate during the period of induction was 98.84% and 7 cases did not achieve complete remission. The median time of the first event occurring was 35 months (2.94 years). Among 539 cases completing follow-up, 403 cases (74.77%) completed treatment including 223 cases (86.43%) in LR group, 150 cases (73.17%) in MR group and 30 cases (39.47%) in HR group. The rate of cases completing treatment was significantly different among three groups (P=0.001). The completion rate was highest in LR group and lowest in HR group. The 3-year overall survival (OS) rate was (83.3±1.8) %, and the 3-year EFS (event-free survival) rate was (79.2±1.9) % using a Kaplan-Meier method. The 5-year OS rate was (79.5±3.3) %, and the 5-year EFS rate was (70.9±3.7) %. There were significant differences in 3-year EFS rate and 5-year EFS rate among three groups (P<0.05). Conclusions Childhood B-ALL treated with SCMC-ALL-2005 protocol achieved a better therapeutic effect and prognosis. The multi-center collaborative research is useful for the standard treatment of ALL.

Regular follow-up on physical growth and mental development of small and appropriate for gestational age preterm infants

LU Junfeng, SHI Yuqi, HUANG Yunli, YANG Chunhui, LAI Chunhua, WANG Wweiqiong, YANG Bingyan

. 2014, 32(11):  1034.  doi:10.3969 j.issn.1000-3606.2014.11.009

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Objective　To investigate the physical and mental development of small and appropriate for gestational age preterm infants in their early life. Methods This study recruited 220 preterm infants, who were discharged from our hospital and visited preterm following-up clinic at regular intervals from February 2009 to December 2012. All of those infants were divided into two groups based on whether their birth weight below 10th percentile for their gestational ages or not. Weights, lengths and head circumferences were measured up to seventh month age adjusted by gestational age. Meanwhile, mental tests were conducted by the professional staffs working on the children developmental assessment at their adjusted months of 5th, 6th or 7th. All of physical and mental scores were compared between the two groups. Results The SGA group was statistically less than the AGA group on the Z-score of weights from the first to sixth month adjusted by gestational age (P<0.05). The difference disappeared on the seventh adjusted month age (P>0.05). The SGA group was statistically less than the AGA group on the Z-score of lengths from the first to fifth month adjusted by gestational age (P<0.05). The difference disappeared on the sixth and seventh adjusted month age (P>0.05). The SGA group was statistically less than the AGA group on the Z-score of head circumferences from the first to seventh month adjusted by gestational age (P<0.05). The SGA babies scored statistically less than the AGA babies with a mean development quotient score of 96.7 and 102.9, respectively (P<0.05). The scores of movement, cognitive, language in the SGA group were statistically less than those in the AGA group(P<0.05). Conclusions Preterm SGA could achieve satisfactory weight catch-up gain, with a decreasing difference from preterm AGA while they were getting older. But the length catch-up growth of preterm SGA seemed unsatisfactory with a big differece from preterm AGA. There was the worst catch-up on head circumference in those preterm SGA, backward in mental development, particularly in their movement, cognitive and language capacity.

The relationship and significance of serum TLR-4、TNF-α、IL-6 in neonates with preterm birth

GU Huifang, RONG Xiaoping, ZHANG Huangai, CHENG Chunping, LIU Xue, GENG Shuxia, LIU Xiang, LIU Peng, GUO Wei

. 2014, 32(11):  1039.  doi:10.3969 j.issn.1000-3606.2014.11.010

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Objective　To explore the roles of serum TLR-4, TNF-α and IL-6 in neonates with preterm birth. Methods A total of 120 neonates from neonatology department in the Xingtai People's Hospital were selected and divided into full-term group (n=40), premature rupture of fetal membranes (n=40) and idiopathic preterm group (n=40) based on the gestational age. The peripheral venous blood was collected within 30 minutes when the infants were born, and the supernatant was reserved after centrifuged. The levels of serum TLR-4, TNF-α and IL-6 were detected by enzyme-linked immunosorbent assay. Results The levels of TLR-4, TNF-α and IL-6 in idiopathic preterm and premature rupture of fetal membranes were significantly higher than that in full-term group and showed positive correlation. Conclusion Cytokines TLR-4, TNF-α and IL-6 maybe closely related to the preterm birth.

Effects of pregnancy hypertension in mother on neonatal multiple systems　

ZHANG Huangai, GUO Wei, GU Huifang, WANG Jingqun, GENG Shuxia, LIU Peng, LIU Xiang, YANG Liu

. 2014, 32(11):  1042.  doi:10.3969 j.issn.1000-3606.2014.11.011

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　Objective　To explore the effect of gestational hypertension on multiple organ system in neonates. Methods A total of 100 newborns whose mother had pregnancy complicating primary hypertension admitted to our hospital from December 2011 to December 2012 were selected and divided into preeclampsia group (n=53), gestational hypertension group (n=47) according to the blood pressure during pregnancy. Meanwhile, 100 newborns with healthy mother were selected as control group including 12 term infants and 88 premature infants. Data including birth weight, length and head circumference, Apgar score, the percentage of amniotic fluid pollution, placental abruption and fetal distress, Neonatal Behavioral Neurological Assessment (NABA) score, serum level of creatine kinase, pulmonary arterial pressure, thyroid function, blood glucose, blood routine, cranial MRI parameters were collected and compared among three groups. Results In preeclampsia group, the gestational age, birth weight and head circumference, 1-min and 5-min Apgar scores were lowest while the ratio of low birth weight infants was highest among three groups, and the differences were significant (P<0.05). In preeclampsia group, the rates of antenatal abnormalities (amniotic fluid meconium III degree pollution, placental abruption and fetal distress) and complications (severe infection, myocardial damage, neonatal polycythemia, liver and kidney damage, hypoglycemia, hypothyroidism and respiratory failure) were highest among three groups, and the differences were significant (P<0.01). In preeclampsia group, the red blood cell count, the levels of hemoglobin, hematocrit and thyroid stimulating hormone were significantly higher than those in the other two groups ( P<0.05 ), and the white blood cell and platelet count was significantly lower than that in the control group (P<0.05). The passive muscle tension scores in preeclampsia group were significantly lower than those in the other two groups (P<0.05). The abnormity rate of cranial MRI in preeclampsia group was highest among three groups, and the difference was significant (P<0.01). Conclusions Gestational hypertension may cause multisystem disorders in newborns, such as fetal intrauterine growth restriction, endocrine system disorders, heart dysfunction, increased blood viscosity, delayed neurodevelopment. The severity of gestational hypertension is associated with the adverse impact on the multiple systems in neonates.

Subcutaneous fat necrosis in neonate: a case report and literature review

WANG Beibei, ZHOU Xiaoguang, ZHOU Xiaoyu

. 2014, 32(11):  1048.  doi:10.3969 j.issn.1000-3606.2014.11.012

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Objective　To investigate diagnostic methods and treatment of subcutaneous fat necrosis in neonate (ScFN). Methods The clinical data of a case with ScFN was reported and the etiology, pathogenesis, and differential diagnosis were reviewed. Results The case was a 2 days female newborn delivered via cesarean section at full-term, and she came to hospital because of indurated nodules and plaques in the back and shoulders. Anti-infection treatment after admission was not effective. On the 10th day in hospital, the back lesions appear as soft and fluctuant and then diagnosed as ScFN by biopsy which showed a small amount of inflammatory cell infiltration and fatty degeneration. The patient was followed up with good prognosis. Conclusions ScFN is a benign self-limiting fat disease, mostly occurred in the first four weeks of full-term newborns with history of abnormal childbirth.

Sentinel surveillance and analyze for the detection of respiratory infection in children: nasopharyngeal viral etiology in Nanxiang, Shanghai during 2007 to 2013

YAN Huajie, SHENG Jun, DONG Wei, QIAN Dan, LIU Jia, YAO Fujia, SHAO Jie

. 2014, 32(11):  1052.  doi:10.3969 j.issn.1000-3606.2014.11.013

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　Objective　To report the result of annual monitoring and analysis of nasopharyngeal virus in children with respiratory tract infections in Nanxiang, Shanghai District. Methods Nasopharyngeal secretions were collected from 4389 children with acute respiratory tract infection in outpatient department from January 2007 to September 2013, 9 common respiratory viruses were analyzed by Multiplex RT-PCR, including influenza virus (FLU), parainfluenza virus (PIV), respiratory syncytical virus (RSV) , adenovirus (ADV), human bocavirus（HBOV）, human coronavirus（Cov）, enterovirus（EV）, human metapneumovirus（HMPV）, and rhinovirus（HRV）. The same analysis was done in 123 asymptomatic children during the same period. Results The positive rate of detected respiratory viruses in children with respiratory tract infections in nasopharyngeal secretions were 34.8% (1526/4389), including FLU 10.3% (453/4389), RSV 7.3% (320/4389), PIV 6.2% (274/4389), ADV 3.3% (146/4389), HBOV 2.7% (118/4389), EV 2.5% (110/4389), Cov 2.4% (105/4389), HRV 1.6% (72/4389), HMPV 1.5% (67/4389); two and more combined respiratory viral infection were found in 273 cases (6.2%). The virus detection rate between age groups was significantly different (χ2 = 41.91, P <0.001). The school-age group had the lowest positive rate of 23.4% and the positive rates in other three groups were all higher than 35.0%. The infant group had the higher positive rate of RSV and HRV. FLU detection rate in school-age group was 13.6%. Respiratory viruses in children with asthmatic disease has high detection rate. RSV infection rate was the highest 14.8% (30/204) in the asthmatic disease group, followed by HBOV 13.8% (28/204). In nasopharyngeal secretions of 123 asymptomatic children, virus-positive detection rate of 6.5% (8/123), which showed significant difference from that in respiratory virus infection group (χ2 = 42.60, P <0.001). Conclusions In seven consecutive years of testing, the influenza virus and respiratory syncytial virus play an important role in children with respiratory tract infections in this region. The detection rate of virus showed difference between different age groups and a higher detection rate of RSV in infants with respiratory tract infections was observed. The overall detection rate of virus was decreased with the increase of age excluding the influenza virus.

Clinical significance of single tidal breathing testing in bronchiolitis

LI Rui, WANG Jian, XU Jiazeng, YANG Huimin

. 2014, 32(11):  1057.  doi:10.3969 j.issn.1000-3606.2014.11.014

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Objective　To study clinical significance of single tidal breathing testing in bronchiolitis. Methods Infants with bronchiolitis at first wheezing (bronchiolitis group, n=756), and 115 infants with bronchopneumonia (bronchopneumonia group) hospitalized were enrolled. Tidal breathing parameters were analyzed in two groups. Bronchiolitis group was divided according to percentiles of the fraction of exhaled time at peak tidal expiratory flow to total expiratory time (TPTEF/TE). The episodes of recurrent wheezing of infants below the 20th or above the 80th percentile of TPTEF/TE were followed up by phone calls within 1 year after discharge from the hospital. Results There were significant differences in TPTEF/TE, VPEF/VE, Ti, Ti/Te, TEF75 and TEF50 between bronchiolitis group and bronchopneumonia group. The recurrent wheezing rate of infants with bronchiolitis below the 20th percentile of TPTEF/TE was significantly higher than that above the 80th percentile of TPTEF/TE (37.5% vs 11.3%). Conclusions There is the greater possibility of recurrent wheezing in the infants with the more serious airway obstruction reflected by single tidal breathing testing in bronchiolitis.

Tidal breathing pulmonary function test and clinical significance in infants with recurrent wheeze　

　ZHOU BO, LI Yan,YUAN Xiaoling

. 2014, 32(11):  1060.  doi:10.3969 j.issn.1000-3606.2014.11.015

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Obiective　To explore the dynamics of tidal breathing pulmonary function in infants with recurrent wheeze and its clinical significance. Methods Eighty (80) infants with recurrent wheeze from October 2013 to February 2014 were enrolled and divided into asthma predictive index positive (n=25) and asthma predictive negative (n=55) groups, and another 20 healthy children were enrolled as control group. Tidal breath pulmonary function at the time of admission (acute phase), leaving hospital (remission phase), and a week after discharge (admission phase) were tested, the ratio of time taken to reach peak expiratory flow to total expiratory time(TPTEF/TE)and ratio of peak expiratory volume to total expiratory volume(VPEF/VE) between groups were compared. Results From acute phase and remission phase to admission phase, TPTEF/TE, VPEF/VE were elevated in positive group and negative group showing significant statistical difference between phases (P=0.000). In acute phase, TPTEF/TE, VPEF/VE showed no statistical difference (P>0.05) between positive group and negative group, when compared with control group, TPTEF/TE, VPEF/VE were significantly lower in positive and negative groups than that in control group (P<0.05). In remission phase, TPTEF/TE, VPEF/VE in negative group were higher than that in positive group, but significantly lower than that in control group (P<0.05). In admission phase, TPTEF/TE and VPEF/VE in negative group and control group showed no statistical difference (P>0.05), but significantly higher than that in positive group (P<0.05). Conclusions Lung function impairment duration was longer in asthma predictive index positive children than in asthma predictive index negative children. The tidal breathing pulmonary function test can provide objective clinical indicators for infants with recurrent wheeze to predict asthma.

The association between night waking and infant cognitive development

WANG Aiping, SUN Wanqi, LUO Xiaoping, HUANG Fang, CHEN Xiaoying, JIANG Yanrui, WANG Yan, XU Xiaojuan, SONG Yuanjin, ZHU Qi, ZHANG Yiwen, JIANG Fan

. 2014, 32(11):  1064.  doi:10.3969 j.issn.1000-3606.2014.11.016

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Objective　To explore the role of night waking in the cognitive development of infants and young toddlers. Method A total of 116 infants aged 2 to 30 months were randomly selected in Yiwu, Zhejiang from December 2011 to February 2013. Social-demographic factors were investigated through questionnaire; sleep information were collected via the Brief Infant Sleep Questionnaire (BISQ); Cognitive development was assessed in all infants using Baley development scale. Results The mean age was 12.99 month-old. 50.86% (59/116) were males. Ocassional night waking was reported in 5.26%, one night waking in 29.82%, multiple night waking accounted in 64.91% of children under one year old. Ocassional night waking was reported in 32.20%, one night waking in 45.76%, multiple night waking in 22.03% of children over one year old. The frequency of night waking was significantly different between children under one year old and children over one year old (P<0.01). The average duration of waking was 0.49±0.31 h in children under one year old, and 0.31±0.48 h in children older than one year old, and the difference was significantly different (Z=4.35, P<0.001). In children over one year old, the more frequent night waking, the lowered MDI scores (F=3.98, P=0.024). The waking duration was negatively correlated with MDI scores in children over one year old (r=-0.26, P=0.035). Neither night waking duration nor night waking frequency had significant correlation with MDI scores in children under one year old. Multivariable linear regression confirmed that night waking was an independent influential factor of MDI and PDI scores in children over one year old. Conclusions Persistent night waking should warrant attention.

Relationship of 25 (OH) D levels in cord and maternal peripheral blood

WU Jiaying, ZHOU Xiaojian，HONG Jianguo

. 2014, 32(11):  1069.  doi:10.3969 j.issn.1000-3606.2014.11.017

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Object　To explore the relationship of 25 (OH) D levels in cord and maternal peripheral blood to understand the maternal and neonatal vitamin D status in Songjiang District of Shanghai. Methods One hundred newborns delivered at the First People’s Hospital affiliated to Shanghai Jiaotong University and 20 pregnant women during November 2010 to January 2011 in Songjiang district were enrolled in the study. The levels of 25 (OH) D in cord and maternal blood were measured by ELISA and compared. Results Mean materna1 serum levels of 25 (OH) D was (23.42±5.23) nmol/L, and cord blood 25 (OH) D was (29.77±12.51) nmol/L. Maternal serum 25 (OH) D was positively correlated with cord blood 25 (OH) D (r=0.84, P<0.001). Conclusions This study shows that the prevalence of vitamin D deficiency in pregnant women is high in Shanghai Songjiang District, which could have adverse effects on newbowns.

Food protein-induced enterocolitis syndrome caused by cow's milk protein allergy in an infant: case report and review of literature

Fang Tiefu, Yang Min, Gong Sitang, Chen Peiyu, Geng Lanlan, Xu Zhaohui, Liang Cuiping, Li Huiwen, He Waner

. 2014, 32(11):  1072.  doi:10.3969 j.issn.1000-3606.2014.11.018

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To discuss clinical diagnosis and treatment of cow’s milk protein allergy and cow’s milk protein-induced FPIES (food protein induced enterocolitis syndrome). Methods We retrospectively analyzed clinical data of one infant with milk protein allergy-induced FPIES. Results A 67 days old female on mixed breast and formula feeding developed recurrent diarrhea, abdominal distension, vomiting, mucousy and bloody stools, feeding difficulty, anemia, and failure to thrive since 2 weeks after birth. Laboratory studies showed anemia, increased CRP level and elevation of peripheral white blood count and eosinophil proportion. Milk-specific IgE was negative. She was previously hospitalized 4 times, all with admitting diagnosis of “necrotizing enterocolitis”. We treated her with milk protein elimination for 4 weeks and all symptoms were resolved. Milk protein rechallenge test was positive, consistent with clinical features of cow’s milk protein allergy-induced infant FPIES. Conclusions Cow’s milk protein allergy and cow’s milk protein-induced FPIES can present with non-specific and variable clinical symptoms and signs, and should be considered in the differential diagnosis.

Clinical application of dual-source CT using low-dose technology in diagnosing complex congenital heart diseases

　SHEN Donghui, CHEN Chunxia, REN Yan

. 2014, 32(11):  1076.  doi:10.3969 j.issn.1000-3606.2014.11.019

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　Objective　To evaluate the application of dual-source CT (DSCT) using low-dose technology in diagnosing complex congenital heart diseases. Methods The DSCT data of 31 cases with complex congenital heart diseases confirmed by operation were retrospectively analysed and classified into four groups: group A(≤4 months old, n=12); group B (>4 months old~1 year old, n=3); group C (>1 year~6 years old, n=8) and group D (>6 years old, n=8). Results The diagnosis conformation rate of DSCT with surgery were 94.59% . The diagnostic conformation rate of intracardic anormalies using DSCT was 92.86%. And the diagnostic conformation of DSCT in patients with abnormal connection of atrium or ventricle to great vessels and the extrocardic anormalies was 95.65%. The average effective dose in each group were 1.16±0.06 mSv, 1.28±0.07 mSv, 1.96±0.54 mSv and 2.77±0.38 mSv, respectively. The ratio of the high quality images was 90.32%. Conclusions The application of low dose technology in DSCT can clearly display the anomalies, and significantly reduce the radiation dose without losing image quality as well.

Effect of Radix astragali on the expression of myocardial Cx43 in rats with dilated cardiomyopathy　

YUAN Yonghua, HE Xuehua, FANG Yibing, LIU Liping, XIA Xiaohui

. 2014, 32(11):  1080.  doi:10.3969 j.issn.1000-3606.2014.11.020

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　Objective　To observe the effect of Radix astragali (RA) on myocardial connexin-43 in rats with dilated cardiomyopathy (DCM). Methods The dilated cardiomyopathy model in rat was established through intraperitoneal injection with adriamycin. The rats in the model group were randomly divided into RA group and the model control group according to different methods of administration. Rats in RA group were gavaged with Astragalus particles and double-distilled water, and rats in model control group and normal control group were gavaged with an equal amount of double-distilled water daily for four weeks. At the end of 12 weeks, the left ventricular ejection fraction (LVEF) was measured with echocardiogram. The Cx43 mRNA level was tested by reverse transcriptase polymerase chain reaction (RT-PCR). Immunohistochemical method was used to observe myocardial Cx43 expression and distribution. Results Compared with the model control group, the Cx43 mRNA and protein expressions and LVEF were increased significantly in RA group (P<0.05). The disorders in distribution of myocardial Cx43 improved in RA group in contrast to the model control group. Conclusions Radix astragali can improve myocardial Cx43 expression and distribution in DCM rats, and can further improve the cardiac function.

A family study of mandibuloacral dysplasia with type A lipodystrophy

　Xiang Shang,Zhang Xuan,Li Xueyi,Bi Yang,Xiao Nong

. 2014, 32(11):  1084.  doi:10.3969 j.issn.1000-3606.2014.11.021

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Objective　To study the gene mutations and clinical features of mandibuloacral dysplasia with type A lipodystrophy (MADA) in a Chinese family. Methods The information of 5 family members including 2 siblings suspected atypical progeria was assembled. Genomic DNA was extracted from peripheral blood of 5 family members, the 12 exons of LMNA gene were amplified by PCR and then the PCR products were directly sequenced and analyzed by using Blast software online. The SIFT and PolyPhen-2 software were used to predict the harmfulness of mutations. Results The 2 siblings were clinically diagnosed as MADA. Heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations were detected in this family. The father carried c.1583C>T (p.Thr528Met) mutation, the mother carried c.1579C>T (p.Arg527Cys) mutation, and their normal daughter were all heterozygous carriers with c.1583C>T (p.Thr528Met) mutation. Compound heterozygous c.1579C>T (p.Arg527Cys) and c.1583C>T (p.Thr528Met) mutations in 2 siblings led to MADA. The MADA showed an autosomal recessive inheritance pattern in this family. Conclusions The 2 siblings with MADA in this family were caused by compound heterozygous mutations in LMNA gene.

Research progress of fecal and urinary biomarkers for early diagnosis of neonatal necrotizing enterocolitis

LUO Lijuan, LI Luquan

. 2014, 32(11):  1089.  doi:10.3969 j.issn.1000-3606.2014.11.022

Abstract ( 333 )   PDF (1193KB) ( 448 )  

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Necrotizing enterocolitis (NEC) is the most common severe gastrointestinal emergency in neonatal period. Searching biomarkers to identify infants at greatest risk of developing NEC might be of importance for early diagnosis, effective treatment and better prognosis of NEC. Biomarkers from stool and urine attract great attention due to non-invasiveness and easy availability of fecal and urinary sampling. This article reviews the latest research progress of non-invasive biomarkers including intestinal fatty acid binding protein, serum amyloid A, complement C3a and C5a in urine; fecal lactoferrin, intestinal bacteria spectrum, fecal calprotectin, S100A12 and high mobility group box-1 protein.

Significance of pancreatic stone protein in pancreatic injury and sepsis

PENG Hongyan, ZHU Yimin

. 2014, 32(11):  1093.  doi:10.3969 j.issn.1000-3606.2014.11.023

Abstract ( 291 )   PDF (1254KB) ( 435 )  

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　Pancreatic stone protein (PSP) is the product of exocrine pancreas mainly synthesized and secreted by the pancreas acinar cells, a small amount secreted by gastrointestinal cells. PSP is one of stress protein family members secreted in the pancreas. PSP increased in acute and chronic pancreatitis, diabetes, inflammatory bowel disease and gastrointestinal tumors. In recent years, some studies showed that PSP has potential clinical value in pancreatic injury and sepsis. In this article, we reviewed the progress of pancreatic stone protein in pancreatic injury and sepsis.