Table of Content

15 March 2016 Volume 34 Issue 3

  

The impact of prenatal diagnosis on treatment and prognosis of neonatal pulmonary atresia with intact ventricular septum and critical pulmonary stenosis with intact ventricular septum

WANG Qing, YANG Jianping, SHEN Jia, CHEN Sun, WU Yurong, SUN Kun

. 2016, 34(3):  161.  doi:10.3969 j.issn.1000-3606.2016.03.001

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Objective To explore the impact of prenatal diagnosis on the early treatment and short and medium term outcome of neonatal pulmonary atresia with intact ventricle septum (PA/IVS) or critical pulmonary stenosis with intact ventricle septum (CPS/IVS). Methods According to the case-control method, twenty-eight neonates with (PA/IVS) or (CPS/IVS) who had percutaneous pulmonary balloon valvuloplasty (PBPV) surgery indications, were divided into the prenatal diagnosis group (n = 15) and the postnatal diagnosis group (n = 13). The prenatal diagnosis group was diagnosed in fetal period and the intervention program was since developed . The postnatal diagnosis group was referred from other hospitals, and the intervention program was developed after confirmation of the diagnosis. All the neonates accepted the PBPV surgery after the hemodynamic parameters stable. All neonates were followed-up at 1 month, 3 months, 6 months, 1 year, and 2 years after surgery. Clinical situations, echocardiography results, and interventional cardiology measurements were compared between two groups. Result The average age and weigh was 7.53 ± 3.18 days and 3102.32 ± 708.40 g respectively at the time of PBPV surgery in 28 neonates. Among them, 9 neonates were PA/IVS and 19 neonates were CPS/IVS. The mean follow-up time was 18.8 ± 5.22 months and there were no death. The ages at admission and at the first treatment were significantly younger in the prenatal diagnosis group than those in the postnatal diagnosis group (P < 0.05). At admission, the hemodynamic parameters were more stable in the prenatal diagnosis group than those in the postnatal diagnosis group. The incidence of complications was higher in the prenatal diagnosis group than that in the postnatal diagnosis group. During the follow-up period, the rate of re-intervention, the situation of the double ventricular circulation, and the development of the right ventricle and pulmonary valve at one year after surgery were no difference between two groups (P > 0.05). Conclusion Prenatal diagnosis is helpful for the early intervention in neonates with PA/IVS and CPS/IVS, and can reduce the complications after surgery.

Application value of plasma N-terminal pro-B-type natriuretic peptide in diagnosis and treatment of symptomatic patent ductus arteriosus in preterm infants

GONG Xiaoqin, PENG Huabao, ZENG Qun, HOU Zhanghua, KUANG Xiaomin

. 2016, 34(3):  166.  doi:10.3969 j.issn.1000-3606.2016.03.002

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Objective To explore the clinical application value of plasma N-terminal pro-B-type natriuretic peptide (NTproBNP) in diagnosis and treatment of symptomatic patent ductus arteriosus (sPDA) in preterm infants. Methods A total of 107 preterm infants with gestational age of 28-32 weeks and birth weight less than 1500 g who were admitted to the neonatal intensive care unit from October 2013 to September 2014 were recruited. Plasma NT-proBNP were on 4th and 7th day after birth. The echocardiography examination was performed within 30 minutes after the blood was drawn. According to the echocardiography examination on 4th day after birth, the infants were divided into the patent ductus arteriosus (PDA) group (n = 39) and the control group (n = 68). According to whether there were significant hemodynamics changes of ultrasonography and clinical symptoms, the PDA group were classified into the sPDA group (n = 20) and the asymptomatic PDA group (asPDA, n = 19). Then according to whether ibuprofen was taken, the sPDA group was further divided into treatment group (n = 13) and non-treatment group (n = 7). Results On the 4th day after birth, the level of plasma NT-proBNP in the sPDA group was significantly higher than that in asPDA group, and the level of plasma NT-proBNP in asPDA group was significantly higher than that in the control group (P < 0.05). On the 7th day after birth, the level of plasma NT-proBNP in the sPDA group was significantly higher than that in the asPDA group and the control group (P < 0.05), and, however, there was no significant difference between the asPDA group and the control group (P > 0.05). In the treatment group, the level of plasma NT-proBNP on the 7th day after birth was significantly lower than that on the 4th day after birth (P < 0.05). In the non-treatment group, there was no significant difference of the plasma NT-proBNP between the 4th day and the 7th day after birth (P > 0.05). In PDA group, the level of plasma NT-proBNP on the 4th day after birth was positively correlated with ductus arteriosus (DA) diameter, ratio of the left atrium to aortic root diameter (LA/AO ratio) and transductal diameter-to-left pulmonary artery ratio (TDD/LPA) (r = 0.498-0.670, respectively). The area under receiver operator characteristic (ROC) curve for prediction of sPDA by the plasma NT proBNP on the 4th day after birth was 0.969 (95% CI: 0.938-1.000). When the NT-proBNP was 13964 pg/ml on the 4th day after birth, the sensitivity for diagnosis sPDA was 95%, the specificity was 95.4%. Conclusions The level of plasma NT-proBNP is significantly higher in preterm infants with sPDA and is decreased after treatment. Plasma NT-proBNP on the 4th day after birth is a sensitive marker for predicting sPDA. Dynamic monitoring of plasma NT-proBNP has important clinical value in selection of the treatment strategy in preterm infants with PDA.

Analysis of clinical manifestations and drug resistance in purulent meningitis caused by Escherichia coli in neonates

SUN Zengxian, LAN Juhong, ZHANG Yali

. 2016, 34(3):  172.  doi:10.3969 j.issn.1000-3606.2016.03.003

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Objective To investigate the clinical features and drug resistance of neonatal purulent meningitis caused by Escherichia coli. Methods The clinical data of 46 neonates diagnosed with purulent meningitis caused by Escherichia coli were retrospectively analyzed from June 2004 to June 2014. The neonates were divided into community acquired infection group and nosocomial infection group, or early group (from June 2004 to May 2009) and late group (from 2009 June to June 2014). Result Fever, hypothermia, lethargy, poor feeding, tachypnea, and tachycardia were common clinical manifestations in all neonates. The detection rate of ESBLs was significantly higher in nosocomial infection group than that in community acquired infection group (P < 0.05), and also was significantly higher in the late group than that in the early group (P < 0.05). The rates of resistance to commonly used cephalosporins were significantly higher in nosocomial infection group than those in community acquired infection group. The rates of resistance to commonly used penicillin and cephalosporin were significantly higher in the late group than those in the early group (P < 0.05). Conclusions The clinical manifestations of neonatal purulent meningitis caused by Escherichia coli are not typical. The drug resistance rates of ESBLs to penicilins and cephalosporins are increasing recently. Nosocomial infection is the risk factor for ESBLs.

Analysis of the quality of life of 230 very low birth weight infants followed up to 6 months of corrected age

JIANG Qinglian, BAO Lei

. 2016, 34(3):  176.  doi:10.3969 j.issn.1000-3606.2016.03.004

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Objective To analyze the short term prognosis of very low birth weight (VLBW) infants. Methods The clinical data of VLBW infants who were hospitalized from December 2013 to December 2014 and followed up to 6 months of corrected age were retrospectively analyzed. Results A total of 230 VLBW infants were enrolled. Thirty infants (13.0%) died during hospitalization, 40 infants (17.4%) were given up the treatment, 60 infants (26.1%) were improved at discharge, and 100 infants (43.4%) were cured at discharge. In the 30 cases of death, causes of death were mainly neonatal respiratory distress syndrome (18 cases), pulmonary hemorrhage (5 cases), and sepsis (3 cases). In the 200 survived infants at discharge, at 6 months of corrected age of follow-up, 13 infants (6.5%) were lost to follow-up, and 54 infants (27.0%) died, among whom 40 infants died because of giving up therapeutic intervention due to economic factor or discharges without permission. At 1, 3, 6 month of follow-up, the length and weight of VLBW infants were gradually approaching normal, and, however, at 6 months of corrected age, the length and weight of VLBW infants were still obviously below the children’s growth standard. The length of VLBW infants was more deeply below the growth standard than the weight. In 109 infants who had fundus ophthalmoscope, 21 cases had retinopathy of prematurity (ROP) I, and 7 cases had ROP II. In 98 infants who had the hearing screening test, 5 cases failed in one ear and 11 cases failed in both ears. In 95 infants who had the head magnetic resonance imaging (MRI) examination, 10 cases had intracranial hemorrhage and 9 cases had premature brain injury. In 49 infants who completed the neonatal behavioral neurological assessment (NBNA) at corrected age of 42 weeks, the scores were all lower than 35. In 36 infants who were assessed by Gesell developmental scale at the 3 months of corrected age, 11 cases had mild developmental delay and 2 cases had moderate developmental delay. In 24 infants who were assessed at the 6 months corrected age, only 2 cases had mild developmental delay. VLBW infants had a rapid progress in social contact, social behavior, and gross motor movement. Conclusions Economic, neonatal respiratory distress syndrome, pulmonary hemorrhage, and sepsis are pivotal factors for the survival and quality of life of VLBW infants. The surviving VLBW infants have catch-up growth and development.

Clinical and prognostic analysis of sepsis caused by Streptococcus agalactiae combined with purulent meningitis in 12 neonates

YANG Huanhuan, LI Jing

. 2016, 34(3):  181.  doi:10.3969 j.issn.1000-3606.2016.03.006

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Objective To investigate the clinical manifestations, treatment and prognosis of sepsis caused by Streptococcus agalactiae combined with purulent meningitis in neonates. Methods Clinical data of 12 neonates with purulent meningitis caused by Streptococcus agalactiae were analyzed retrospectively from January 2012 to May 2015. Results In 12 full term neonates (6 males and 6 females) , there were 4 early onset cases and 8 late onset cases; 7 cases of vaginal delivery and 5 cases of cesarean section. All of the mothers had no history of infections, and also no routine screening for group B streptococcus. The serum levels of procalcitonin were elevated in all neonates. Brain magnetic resonance imaging results indicated abnormal meningeal enhancement, subdural effusion in 5 cases and brain parenchyma involvement in 3 cases. One case was treated with penicillin only. One case was treated with meropenem first and then penicillin only with good efficacy. Most of the neonates need drug combination therapy. During 20 ~ 29 months of following-up, one case had language development delays, 2 cases had motor retardation, and the other 9 cases had a normal development. Conclusions The neonates with sepsis caused by Streptococcus agalactiae combined with purulent meningitis are critically ill. It is imperative to apply sensitive antibiotics in time or drug combination therapy when necessary. It is proposed to improve the prenatal screening.

The gene mutation in one neonate with Finnish type congenital nephrotic syndrome

ZHANG Rui, ZHOU Wenli, XU Longxia, LIU Ying

. 2016, 34(3):  185.  doi:10.3969 j.issn.1000-3606.2016.03.007

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Objective To investigate the NPHS1 gene mutations in Finnish type congenital nephrotic syndrome (CNF). Methods Clinical data of one neonate with CNF and the results of NPHS1 gene detection in the neonate and his parents were retrospectively analyzed. Results The male neonate who was born at gestational age of 34 weeks presented with breathing difficulties after birth, and then glycosuria, proteinuria, and hematuria at 3 days of age. The CNF was clinically diagnosed. The neonate carried two heterozygous mutations in NPHS1 gene, c.1699 > C, p.(Cys567Arg) and c.3523_3524de1TT, p.(Leu1175Valfs). His father carried the heterozygous mutations of c.1699 > C, p.(Cys567Arg). His mother carried the heterozygous mutations of c.3523_3524de1TT, p.(Leu1175Valfs). Conclusions The NHPSI gene mutation of c.1699 > C, p.(Cys567Arg) and c.3523_3524de1TT, p.(Leu1175Valfs) may cause CNF. The mutation of c.1699 > C, P. (Cys567Arg) has not been reported at home and abroad.

Neonatal congenital hyperinsulinism: one case report and literature review

YANG Lin, YANG Xiaoyan, SHI Jing, XIONG Ying

. 2016, 34(3):  188.  doi:10.3969 j.issn.1000-3606.2016.03.008

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Objective To study the clinical features and gene mutation of congenital hyperinsulinism (CHI). Methods Clinical data of one newborn infant with CHI were retrospectively analyzed, and relevant literatures were reviewed. Results The infant was admitted at 24 days after birth due to recurrent hypoglycemia. Genetic examination revealed the single heterozygous mutation on ABCC8, which confirmed the diagnosis of CHI. Experimental treatment of Diazoxide was effective. The blood glucose was normal in the follow up. Conclusions The improvement of genetic testing at the soonest can not only helps early diagnosis of CHI, but also guides the long-term clinical management of CHI.

Analysis of the factors related to recurrent vasovagal syncope in children

XU Meng, HUANG Min, SHEN Jie, XIAO Tingting, WANG Jianyi, HUANG Yujuan

. 2016, 34(3):  192.  doi:10.3969 j.issn.1000-3606.2016.03.009

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Objective To explore the factors related to vasovagal syncope (VVS) in children. Methods The clinical data of 125 children with confirmed VVS were collected. According to the frequency of syncope during the five years from first episode to the time of head-up tilt test, the children with 2 or 3 episodes of syncope were assigned into the low episode group, and the children with 4 or more episodes of syncope were assigned into the high episode group. The two groups were analyzed and compared. Results Among the 125 children, 84 children (67.2%) were in the low episode group and 41 children (32.8%) were in the high episode group. The single factor analysis showed that the age at head-up tilt test, onset of syncopal, causes of syncope, history of carsickness, and positive family history were associated with high attack frequency. The results of non-conditional logistic regression analysis showed that causes of syncope (OR = 3.723, 95% CI: 1.163-11.918, P = 0.027), history of carsickness (OR = 5.929, 95% CI: 2.066-17.015, P = 0.001), and positive family history (OR = 6.794, 95% CI: 2.006-23.013, P = 0.002) were the independent risk factors of high attack frequency. Conclusions The causes of syncope (excluding persistent standing), history of carsickness, and positive family history have important clinical significance in predicting high attack frequency of VVS in children.

Relationship between plasminogen activator inhibitor-1 gene polymorphism and gastrointestinal bleeding in Henoch-Schönlein purpura

WANG Baoxiang, MEI Hong, PENG Hanming, GAO Yuan, YU Chunhua, DING Yan

. 2016, 34(3):  197.  doi:10.3969 j.issn.1000-3606.2016.03.010

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Objective To investigate the relationship of single nucleotide polymorphism (4G/5G) in the promoter of plasminogen activator inhibitor-1 (PAI-1) and plasma PAI-1 level with gastrointestinal bleeding in Henoch-Schönlein purpura (HSP). Methods A total of 524 children with HSP in acute phase were recruited, and divided into gastrointestinal bleeding group (bleeding group, n = 186) and non-gastrointestinal bleeding group (control group, n = 338). The genotype frequency of 4G/5G polymorphism, the plasma PAI-1 level, and other parameters related to coagulation and fibrinolysis were measured and compared between two groups. Results The levels of platelet count (PLT), platelet distribution width (PDW), serum D dimer (DD), serum PAI-1 were significantly higher in the bleeding group than those in the control group, and the levels of mean platelet volume (MPV) and plasma fibronectin protein of fibrinogen (FIB) were significantly lower in the bleeding group than those in the control group (P < 0.05). The genotype frequency of 4G/4G was significantly higher in the bleeding group than that in the control group (P = 0.044). The plasma PAI-1 level and DD level was high in 4G/4G genotype. Conclusions The gene polymorphism of PAI-1 4G/5G may affect the pathological process of gastrointestinal bleeding in HSP by influencing the expression of PAI-1 and other factors related to coagulation and fibrinolysis systems.

The value of transesophageal atrial pacing in assessing the mechanism of paroxysmal supraventricular tachycardia in children

QU Shunmei, LI Yun

. 2016, 34(3):  201.  doi:10.3969 j.issn.1000-3606.2016.03.011

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Objective To explore the value of transesophageal atrial pacing (TEAP) in assessing the mechanism of paroxysmal supraventricular tachycardia (PSVT) in children. Methods The electrophysiological data of 50 children with PSVT who had undergone TEAP and, at a later stage, radio-frequency catheter ablation (RFCA) examination were retrospectively analyzed from January 2008 to December 2013. Results When using the intracardiac electrophysiological study (IEPS) as the diagnostic gold standard, the sensitivity of TEAP for atrioventricular nodal reentrant tachycardia (AVNRT), left accessory pathway (LAP) and right accessory pathway (RAP) was 92.9%, 83.1% and 90% respectively; the specificity was 86.4%, 100% and 95% respectively; the accuracy was 90%, 96%, and 94% respectively. The diagnostic accuracy of TEAP for AVNRT was 92.9% (26/28), the diagnosis accuracy for slow-fast AVNRT was 100%, but 2 cases of fast-slow AVNRT were both misdiagnosed as AVRT. The diagnostic accuracy of TEAP for AVRT was 86.4% (19/22) and 3 cases were misdiagnosed as slow-fast AVNRT. Conclusions TEAP has good clinical value in finding the mechanism of PSVT and its preliminarily location in children, but it has some limitations for some types of PSVT.

The analysis of clinical manifestations and genetic mutations in childhood chronic granulomatous disease

LU Xi, JIANG Lirong, WANG Jian

. 2016, 34(3):  204.  doi:10.3969 j.issn.1000-3606.2016.03.012

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Objective To explore the pathogenesis and diagnosis of chronic granulomatous disease. Methods Clinical features and laboratory examination results of a child with chronic granulomatous disease were retrospectively analyzed. Genome DNA was extracted from peripheral blood of the child and his parents. The high-throughput sequencing was performed by Illumina sequencing platform, using the Agilent SureSelect exome capture method. Results The child had recurrent infections along with liver enlargement and dysfunction. The anti-infection and symptomatic treatment were unsatisfactory. Gene sequencing analysis revealed a homozygous point mutation (c.7C > T, p.Gln3*) in CYBA gene. His mother had the same heterozygous mutation in this locus, and his father had a large fragment heterozygous deletions. No other candidate gene mutations were identified. Conclusions The diagnosis of chronic granulomatous disease is confirmed in this child. It is caused by CYBA gene mutation.

Methylmalonic aciduria combined with congenital adrenal hyperplasia: a case report

LIU Yupeng, DING Yuan, LI Xiyuan, SONG Jinqing, WANG Qiao, ZHANG Yao, LIU Geli, WANG Liwen, YANG Yanling

. 2016, 34(3):  208.  doi:10.3969 j.issn.1000-3606.2016.03.013

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Objective To explore the diagnosis and treatment of a rare case of methylmalonic aciduria combined with congenital adrenal hyperplasia. Methods The clinical and laboratory data of the first case of methylmalonyl CoA mutase deficient methylmalonic aciduria combined with 21-hydroxylase deficiency in China were analyzed. Results The male patient with age of onset at 3 months presented with feeding difficulty, diarrhea, metabolic acidosis, and psychomotor retardation after polio vaccination or high protein diet. At one year and 8 months of age, methylmalonic aciduria was diagnosed, and the patient was clinically improved after treatment. At 5 years of age, precocious puberty was noticed, and virilizing form of 21-Hydroxylase deficiency was diagnosed. Genetic testing confirmed 2 known mutations in MUT gene (c.866G > C, c.2179C > T) and 2 known mutations in CYP21A2 gene (c.188A > T, c.518T > A). Conclusions The clinical manifestations of inherited metabolic disorders and endocrine diseases are complex and it is rare that multiple disorders occurred simultaneously in one patient. This male patient has two rare diseases, methylmalonic aciduria and 21-hydroxylase deficiency.

A pedigree of a rare Cb1X type X-linked methylmalonic acidemia due to transcriptional co-regulator HCFC1 mutation

LI Dongxiao, LIU Yupeng, DING Yuan, LI Xiyuan, SONG Jinqing, LI Mengqiu, QIN Yaping, YANG Yanling

. 2016, 34(3):  212.  doi:10.3969 j.issn.1000-3606.2016.03.014

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Objective To explore the clinical and genetic features in the pedigree of Cb1X type X-linked methylmalonic ciduria. Methods Clinical data of one child with X-linked methylmalonic aciduria diagnosed by blood and urine analysis ere analyzed retrospectively. Targeted next-generation sequencing has been performed to detect the mutation of methylmalonic ciduria-related genes. Results The boy started presenting with seizures and severe mental retardation at 2 months of age. At 5 onths of age, he had the manifestations of seizures, severe mental retardation, increased methylmalonic acid in urinary, increased ropionylcarnitine in blood and increased plasma homocysteine, and met the requirements for the diagnosis of methylmalonic ciduria complicated with hyperhomocysteinemia. No mutation was detected in his MMA-related autosomal genes. However, a emizygote mutation c.344C > T (p.Ala115Val) was identified in exon 3 of HCFC1 in X chromosome, which confirmed the CblX ype methylmalonic aciduria. His parents were healthy. His elder brother also manifested severe psychomotor retardation with ntractable epilepsy, and died at 6 months of age with unknown cause. His mother carried the same mutation and had slightly elevated urine methylmalonic acid and plasma total homocysteine. His father did not carry the mutation. Conclusion A pedigree of a rare Cb1X type X-linked methylmalonic acidemia is firstly diagnosed in China by the new generation sequencing technology.

Clinical analysis of the microangiopathic hemolytic anemia and renal impairment secondary to methylmalonic academia in children

LI Chunzhen, ZHANG Dongfeng, LIU Ling, LI Kunfen, GE Lanlan, WANG Jingxia

. 2016, 34(3):  217.  doi:10.3969 j.issn.1000-3606.2016.03.015

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Objectives To review the clinical features in children with methylmalonic academia (MMA) having the primary clinical manifestations of microangiopathic hemolytic anemia and renal impairment. Methods The clinical data of 4 children diagnosed of MMA with the primary clinical manifestations of microangiopathic hemolytic anemia and renal impairment were retrospectively analyzed from August 2013 to present. Results In the four children (two boys and two girls) with the age from nine months to three years seven mouths, two children were diagnosed with MMA combined with homocysteine, and 2 children were diagnosed with MMA, but there was no homocysteine testing. All four children showed moderate to severe anemia, proteinuria, hematuria, and hypertension. One child had abnormal renal function and thrombocytopenia, and manifested as hemolytic uremic syndrome. Renal biopsy was performed in 2 children and they had glomerular sclerosis lesions with renal tubular necrosis and mesangial proliferative glomerulonephritis respectively. All children were treated with vitamin B12, and the indexes of microangiopathic hemolytic anemia and renal impairment were improved significantly. Conclusions MMA may be combined with microangiopathic hemolytic anemia, renal impairment and even hemolytic uremic syndrome, and the early diagnosis and treatment is required.

Clinical analysis of 408 children with positive blood culture of Escherichia coli

TIAN Yangfan, HUA Chunzhen, LI Jianping

. 2016, 34(3):  220.  doi:10.3969 j.issn.1000-3606.2016.03.016

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Objective To investigate the clinical manifestations and the antibiotics resistance patterns in children with positive blood culture of Escherichia coli. Methods The clinical data of children with positive blood culture of Escherichia coli were retrospectively analyzed from Jan.2007 to Dec.2014. Results In a total of 154774 children who had blood culture in the study period, 8446 children were positive, among whom 408 (4.83%) children were isolated Escherichia coli. The children with the positive blood culture of Escherichia coli mainly were under one year old (51.72%), of which 36.77% was neonates. There were 275 children had underlying diseases, and the most common disease was Leukemia. 199 (48.77%) Escherichia coli strains were producing extended spectrum β-lactamase (ESBLs) and 85.23% were resistant to ampicillin. All strains were susceptible to meropenem. Conclusions Septicemia caused by Escherichia coli is usually occurred in children with leukemia or in neonates. Since blood infections of Escherichia coil had high rate of ESBLs, the use of carbapenem antibiotics should be cautious.

Physiological changes and implications during the fetal-neonatal transition

TANG Qiuxia

. 2016, 34(3):  223.  doi:10.3969 j.issn.1000-3606.2016.03.017

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During the fetal-neonatal transition, the body must undergo many important physiological changes to adapt the extrauterine environment. After birth, the blood and energy supply through placenta is stopped with clamping of the umbilical cord and, meanwhile, the pulmonary ventilation function is established when exposure to the air, which results in a series of changes in the respiratory, circulatory and endocrine systems and energy metabolisms, etc. The physiological transition can be reflected in heart rate, blood pressure, oxygen saturation, temperature, and other physiological indicators. The changes of these indicators can be used as references for prevention, diagnosis and treatment of neonatal diseases. This review provides an overview of physiological changes and implications in the lung function, circulatory and endocrine systems, and energy metabolism during the transition at birth as well as intervention measures for abnormal fetal-neonatal transition.

The role of retinoic acid receptor and its signal pathway in the renal disease

JIANG Ling

. 2016, 34(3):  227.  doi:10.3969 j.issn.1000-3606.2016.03.018

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Retinoic acid (RA) receptor, is a group of ligand-regulated nuclear transcription factors and widely distributed in various tissue cells. The different subtypes of RA receptor can polymerize into homologous or heterogenous dimmers, and then participate in the physiological and pathological processes of embryonic development, cell proliferation and differentiation, and apoptosis. However, the relationship between the expression of RA receptor and the diseases is different in diverse cells or tissues. Recent researches demonstrated that RA receptor is closely related to the pathogenesis and development of renal diseases. This article aims to review the role of the RA receptor and its signal pathway in the development of renal diseases.

Research progress in hereditary multiple exostoses

LI Yuchan

. 2016, 34(3):  232.  doi:10.3969 j.issn.1000-3606.2016.03.019

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Hereditary multiple exostoses (HME) is an autosomal dominant genetic disease characterized by multiple benign cartilage-capped tumors primarily at the juxta-epiphyseal region of the long bone or on the flat bones. Because the tumor can interfere with normal epiphysis, it causes bone deformities. The clinical features include short stature, the mechanical axis deviation, and function impairment. Recent studies showed that EXT gene mutation was associated with HEM. The EXT gene was involved in the biosynthesis of heparin sulfate. The gene mutations resulted in abnormal chondrocyte differentiation. This paper reviews the research progress in clinical manifestation, pathogenesis, biochemistry, the genotype-phenotype correlations, and treatment in HME.