Table of Content

15 November 2018 Volume 36 Issue 11

  

Clinical features and CDKL5 gene mutation analysis of 3 cases with early epileptic encephalopathies

　LIU Xiaojun， ZHANG Peiyuan，LEI Meifang，SHU Jianbo， ZHANG Yuqin

. 2018, 36(11):  809.  doi:10.3969/j.issn.1000-3606.2018.11.001

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Objective　To investigate clinical features and cyclin-dependent kinase-like 5 (CDKL5) mutations in 3 cases with early epileptic encephalopathies（EEEs ） Methods　Clinical data of 3 cases with EEEs were retrospectively analyzed. Next generation sequencing (NGS) was used to detect CDKL5 genes mutations, and Sanger sequencing was performed to confirm the mutations identified by NGS. Results　The three patients are one male and two females, aged 3 years old, 8 years old and 3 months old, respectively. Case one was found to have a hemizygous mutation c. 2854 C＞T in CDKL5 which was inherited from his mother, case two was found to have a de novo nonsense mutation c.858 C＞A，and case 3 was found to have a de novo frame shift mutation c. 1363delG. Conclusions　The mutation in CDKL5 lead to EEEs, and the newly found c. 1363delG expands the mutation spectrum of the CDKL5 gene．

One pair of monozygotic twins with epilepsy combined with intellectual disability related to FLNA gene hemizygous mutation：a case report

　HONG Xiaowen, CHEN Yanhui

. 2018, 36(11):  813.  doi:10.3969/j.issn.1000-3606.2018.11.002

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Objectives　To investigate clinical and genetic characteristics of one pair of monozygotic twins with epilepsy combined with intellectual disability. Methods　Clinical characters and genetics analysis of monozygotic twins with  epilepsy combined intellectual disability were retrospectively analyzed. With "FLNA" as term for searching literature through PubMed, single nucleotide polymorphism database, human genome mutation database and Online Mendelian Inheritance in Man. Results　A pair of 3 years and 3 months old monozygotic twins with complaint of recurrent seizures, development delay and intellectual disability. Laboratory findings including increased neuron-specific enolase in serum, epileptic waves found by video-EEG and widened extracranial space by brain MRI. Gene detection revealed a hemizygous missense mutation c.7568G>A (p.Ser2523Asn) in FLNA gene, which has not been reported. Conclusions　When patient presented with repeated seizures with varied degrees of intellectual disability and brain dysplasia, it is necessary to screen FLNA gene mutations to help diagnosis. Our report expanded FLNA gene mutation spectrum. .

A case of suspected peripheral nerve injury of metachromatic leukodystrophy

　ZHENG Hong，NIU Donghe，LIANG Ruixing，FENG Bin，ZHOU Zheng，MA Bingxiang

. 2018, 36(11):  816.  doi:10.3969/j.issn.1000-3606.2018.11.003

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Objective　To investigate the clinical and laboratory features of a patient with metachromatic leukodystrophy (MLD）characterized by peripheral nerve injury. Methods　The clinical, laboratory data and genetic result of a patient with MLD characterized by peripheral nerve injury were retrospectively analyzed. Result　A female patient with electromyographic evidence of neurogenic damage presenting walking instability at 18 months after birth,  was diagnosed as common peroneal nerve injury. At 26 months old of age, the patient presented with retrogression of motor function, muscular tension of lower extremity gradually increased. Brainstem auditory evoked potentials showed bilateral Ⅲ-Ⅳ wave interval was greater than theⅠ-Ⅲ wave interval; visual evoked potentials showed prolonged P100 latency. MRI showed bilateral symmetry of the paraventricular nucleus and semioval center white matter area abnormal signals. Plasma carnitine ester profiling and urinary organic acid analysis showed no significant abnormalities. Gene sequencing of arylsulfatase A ARSA identified two heterozygous mutations c.808G> T (p.D270Y) and c.635G> T (p.G212V) which inherited from her phenotypically normal parents. A severe deficiency of Arylsulfatase A (ASA) activity was found in peripheral blood leukocytes (0.7 nmol/mg/h). She was diagnosed as MLD and her parents and brother were healthy with unremarkable family history. Conclusions　The main clinical features of MLD are progressive degeneration of motor function with cognitive, mental disorders and peripheral nerve injury. MRI can help diagnosis. Gene analysis and ASA activity test are important for diagnosis.

Analysis of clinical and pedigree genetics in two cases with neurodegeneration with brain iron accumulation 5　

　ZHAO Min, FENG Ying, CHEN Yuxia, LIU Ling, HUANG Qinrong, XIAO Nong, JIANG Wei

. 2018, 36(11):  820.  doi:10.3969/j.issn.1000-3606.2018.11.004

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Objective　To investigate the clinical characteristics and pedigree genetics of  neurodegeneration with brain iron accumulation 5. Methods　Clinical features and imaging findings of two patients with neurodegeneration with brain iron accumulation 5 were analyzed, and whole-exome sequencing was used to identify WDR45 gene mutations. Results　A ten month old male infant and a three-year-old female child had history of comprehensive development retardation, the boy had a history of suspected seizures, magnetic resonance imaging (MRI) showed progressive brain atrophy; and the girl had a history of epilepsy, cranial MRI showed slightly hyperintense on T2-weighted images and T2 Flair in the globus pallidus. Whole-exome sequencing identified a novel frameshift mutation c.276-c277insC in exon 6 of WDR45 in the boy  and a reported mutation c.19C> Tin in the girl, which were not found in both parents. Conclusion  The WDR45 gene sequencing combined with medical history and cranial MRI can be used to diagnose neurodegeneration with brain iron accumulation 5 .

Report of a boy with Rett syndrome caused by a novel MECP2 mutation and literature review

　GE Junwen, LAN Xiaoping, LI Hongmei, ZHANG Rufang, SHEN Li

. 2018, 36(11):  824.  doi:10.3969/j.issn.1000-3606.2018.11.005

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Objective　To explore clinical manifestations and genetic changes in Rett syndrome. Methods　The clinical data and genetic changes identified by next generation sequencing of a boy with Rett syndrome were retrospectively analyzed, and relevant literatures were reviewed. Results　A 5 months old boy presented with severe abnormal breathing, losing acquired purposeful hand skills and spoken language, hand stereotypies and gait abnormalities, and growth retardation. Genetic tests identified a novel c.194delC (P.S65X) hemizygous mutation in MECP2; which was not found in his parents. Conclusions　 Reports about male Rett syndrome patients are rare. This is the first case in China and it’s also the first review of published reports of Rett syndrome in Chinese male patients.

Primary leptomeningeal melanomatosis：a case report and review of the literature

　WANG Yuanyuan, YANG Huafang, WANG Lihui, ZHENG Huacheng

. 2018, 36(11):  827.  doi:10.3969/j.issn.1000-3606.2018.11.006

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Objective　To improve the understanding of primary leptomeningeal melanomatosis (PLM). Methods　The clinical data of a child with PLM were retrospectively analyzed, and pertinent literatures were reviewed. Results　An 11 years old female child, whose main clinical manifestations were headache, vomiting and seizures. Brain MRI showed diffuse meningeal thickening, and spinal cord MRI showed multiple nodules. Cerebrospinal fluid cytology detected the melanocytes. The patient was diagnosed with PLM at 5 weeks. Conclusions　PLM is rarely seen, the diagnosis may be challenging even for experiences neurologists. When the appearance of unexplained intracranial pressure increases, it is important to be aware of the possibility of PLM.

Characteristics and clinical significance of IG/TCR rearrangement in children with acute lymphoblastic leukemia

ZHAO Peiwei, XIONG Hao, CAI Xiaonan, LI Jianxin, HE Xuelian

. 2018, 36(11):  831.  doi:10.3969/j.issn.1000-3606.2018.11.007

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Objective　To investigate characteristics and clinical significance of IG/TCR rearrangement in children with acute lymphoblastic leukemia (ALL). Methods　Bone marrow samples and clinical data of 189 children with ALL were collected, and the IG/TCR rearrangements of patients were detected by multiplex polymerase chain reaction according to the method provided by BIOMED-2. Results　In our study, 176 children with ALL had IG/TCR rearrangement (102 male and 74 female). 136 cases (77.3%) has IGVH rearrangement and 46 ALL patients (26.1%) has a IGDH rearrangement. IGK rearrangement was detected in 92 patients (52.3%), and IGλ was detected in 11 patients (6.3%). 47 cases (26.7%) has TCRB rearrangement, and 77 cases (43.8%) have TCRD rearrangement. TCRG rearrangement was detected in 88 patients (50.0%). About 25 patients have only one clone of the IG/TCR rearrangement, about 41 patients have two clones of IG/TCR rearrangement, 61 patients have three clones, and 49 patients have more than three clones. We found IGK positive rate was higher in patients with high risk leukemia than that of medium risk and standard risk group , and the difference was statistically significant ( χ2=7.475， P=0.024), and other IG/TCR rearrangement has no association with risk degree in ALL patients (P>0.05). Conclusions　The rearrangement of IG/TCR in children with ALL is ubiquitous, and the IGK rearrangement is associated with the risk of ALL in children.

Analysis of clinical features in 22 patients with pediatric acute megakaryoblastic leukemia

　XUE Yujuan, YU Shui, LU Aidong, WU Jun, ZUO Yingxi, JIA Yueping, ZHANG Leping

. 2018, 36(11):  834.  doi:10.3969/j.issn.1000-3606.2018.11.008

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Objective　To explore the clinical manifestations and prognosis of pediatric acute megakaryoblastic leukemia (AMKL). Methods　The clinical data of 22 patients admitted for AMKL from February 2011 to August 2017 was retrospectively analyzed. Survival analysis were estimated by Kaplan-Meier method and Log-Rank test. Results　The median follow-up time of the 22 patients was 10.8 months, in which 4 cases gave up after diagnosis and 3 cases abandoned treatment in the first course of induction chemotherapy. The total complete remission (CR) rate of the remaining 15 patients was 66.7% and 93.3% after the first and second chemotherapy course, respectively. Marrow relapses occurred in 8 patients, with the 2-year OS and EFS rates of 36.4%±13.7% and 22.2%±10.7% , respectively. Univariate analysis showed that the 2-year OS rate of patients with acquired trisomy 21 was significantly higher than that in the other patients (P=0.019) and the 2-year EFS rate of patients with chromosome number between 49 to 60 was significantly higher than that in the others (P=0.028). The 2-year OS and EFS rates of patients with initial white blood cell count below 10×109/L were higher than those above 10×109/L (P=0.047, P=0.04) and the 2-year OS and EFS rates of patients who received allogeneic hematopoietic stem cell transplantation (HSCT) in first CR were higher than those receiving chemotherapy alone (P＜0.05). Conclusions　AMKL is a highly heterogeneous disease, with a high recurrence rate and a poor prognosis. Initial white blood cell count and karyotype are important factors affecting the long-term therapeutic effect. HSCT should be applied as soon as possible after CR.

X-linked recessive ichthyosis with myeloid leukemia: a case report and review of the literature

CHEN Jiao, ZHANG Leping

. 2018, 36(11):  840.  doi:10.3969/j.issn.1000-3606.2018.11.009

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　Objective　To explore clinical characteristics, treatment and prognosis of patients with X-linked recessive ichthyosis (XLRI) and leukemia. Method　Clinical data of a 10 year-old boy with XLRI complicated with acute promyelocytic leukemia (APL) transformed to erythroleukemia was retrospectively analyzed. Results　The patient had XLRI with bilateral cryptorchidism, hypospadias, pulmonary hypospadias, myocardial abnormalities and malnutrition. He was diagnosed as PML-RARa positive APL at 7 years old, then achieved continuous remission with regular chemotherapy, but transferred to erythroleukemia at 10 years old. Conclusions　XLRI is a dermatological disease caused by steroid sulfatase enzyme deficiency. Patients with congenital ichthyosis have higher incidence of leukemia. There is no special treatment strategy for those patients with ichthyosis complicated with leukemia compared to isolated leukemia, but the former often has unfavorable prognosis.

Noonan syndrome accompanied by hematological symptoms of juvenile myelomonocytic leukaemia: a case report and literature review

　LIN Yuchen, PENG Zhiyong, LI Chunfu

. 2018, 36(11):  844.  doi:10.3969/j.issn.1000-3606.2018.11.010

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Objective　To explore the diagnosis and treatment strategy of Noonan syndrome accompanied by hematological symptoms of juvenile myelomonocytic leukemia. Method　The clinical data of one male neonate suffering from leukocytosis, mononucleosis and hepatosplenomegaly were retrospectively analyzed and the related literatures were reviewed. Results　The boy was born with symptoms, and was diagnosed with Noonan syndrome with PTPN11 mutation at the age of 3 months through the verification of nail, hair follicle, oral exfoliated cells, peripheral blood and bone marrow gene loci combined with special facial features and multiple organ congenital defects. He received low-intensity maintenance therapy and close follow-up. During the follow-up period to 9 months of age, the patient showed a tendency of spontaneous remission of hematological symptoms such as liver and spleen retraction and leukocyte decrease, while the PTPN11 mutation persisted in the peripheral blood of the patient. It has been reported that the incidence of Noonan syndrome is low, rarely with complications of blood system. It is difficult to differentiate Noonan syndrome from juvenile myelomonocytic leukemia. The hematological symptoms associated with Noonan syndrome are mostly self-limited. If no progress can be observed in close follow-up, no special intervention is required. Conclusions　Noonan syndrome accompanied by hematological symptoms is easily confused with juvenile granulocytic leukemia with syngenetic mutation. Family histories, special appearance, congenital defects, combined with multi-tissue gene validation are helpful for diagnosis.

Clinical and genetic analysis of a patient with congenital neutropenia caused by ELANE gene mutation

HE Tingyan, YANG Jun, WANG Xiaodong, XIA Yu, ZHANG Xiaoling, WANG Chunjing, LI Chengrong, LIU Sixi

. 2018, 36(11):  848.  doi:10.3969/j.issn.1000-3606.2018.11.011

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Objective　To investigate clinical features, genetic diagnosis, management and prognosis of congenital neutropenia caused by ELANE gene mutation. Methods　Clinical manifestations, immunological data, gene mutation, processes of diagnosis and treatment of a patient with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed. Results　A 7-month old girl, suffered from neutropenia and recurrent infection for 6 months, presented with bronchial pneumonia and otitis media at 1 month old with suppurative cervical lymphadenitis, umbilical purulent infection, autoimmune hemolytic anemia and suspected juvenile myelomonocytic leukemia. When she was 2 months old, it progressed with obvious hepatomegaly and a slight enlargement of spleen, which lead to persistent neutropenia (0.1×109/L ~1.38×109/L), monocytosis (1.7×109/L ~3.58×109/L) and low hemoglobin levels (65 ~ 108 g/L). Multiple etiological culture tests were positive. Direct antihuman globulin test was strongly positive. Other abnormal immunological screens showed elevated levels of IgG (24.28 g/L), and increased B lymphocytes. Bone marrow smears showed myeloblasts (7%) and promonocyte (4.5%) without any neutral medium promyelocyte, neutral late promyelocyte or neutrophils. A heterozygous c.278_289del (p.93_97del) mutation of ELANE gene was identified by gene sequencing. Conclusions　The main clinical features of congenital neutropenia caused by ELANE gene mutation include refractory recurrent bacterial infections, and neutropenia possiblely accompanied by autoimmunity.

Analysis of clinical phenotype and ANK1 gene mutations in patients with hereditary spherocytosis

　ZHANG Xiuli， ZHAO Guozhu, TANG Jiapeng

. 2018, 36(11):  852.  doi:10.3969/j.issn.1000-3606.2018.11.012

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Objective　To investigate the clinical and genetic features of three patients diagnosed with hereditary spherocytosis. Methods　Clinical data of three patients with hereditary spherocytosis were collected, and genetic changes were identified by next generation sequencing, and Sanger sequencing was used to confirm mutations identified by sequencing. Results　Three cases of patients (two boys and one girl) with anaemia and jaundice, aged from 2 year and 7 months to 4year and 10 months, were treated in the outpatient department in our hospital. The clinical manifestations included skin pallor, jaundice and hepatosplenomegaly, declined hemoglomin level, increased total bilirubin, and increased reticulocyte ratio. The percentage of spherical erythrocytes in the peripheral blood was more than 10%. Erythrocyte osmotic brittleness test was positive in three patients. Genetic analysis identified two heterogenous missense mutations c.830A>G(p.H277R) and c.955C>T (p.R319X) in the ANK1 gene in two children, and a splice mutation in another patient (IVS3+1G>T). Conclusions　patient diagnosed with hereditary spherocytosis often has anemia and jaundice. ANK1 gene mutation is a common cause of the disease. We found two novel mutations that has not been reported.

Effect of plasma exchange therapy on children with atypical hemolytic uremic syndrome

　LI Guangbo，LIU Cuihua， LI Hongjiang，ZHANG Xueli，WANG Chenyu，ZHANG Yufen，DONG Xiaolu

. 2018, 36(11):  855.  doi:10.3969/j.issn.1000-3606.2018.11.013

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　Objective　To investigate the effect of plasma exchange (PE) therapy on children with atypical hemolytic uremic syndrome (aHUS) in their acute phase. Methods　The clinical data of 16 patients with aHUS treated by PE from May 2014 to May 2017 were retrospectively analyzed. Results　In 16 children (10 males and 6 females) aged from 1 to 14 years old, 16 patients received 2 to 5 times PE respectively and Prisma flex were used with Pirsma TPE1000 or TPE2000 membrane plasma separator. The amount of PE is about 40 ~ 60 mL/kg each time. After treatment, the condition in 15 children's was improved in one month except the one who gave up the treatment after four PE treatments. Conclusions　PE can rapidly relieve the condition of aHUS in children as one of the important treatment methods in acute stage.

Activated phosphoinositide 3-kinase δ syndrome with arthritis:  a case report and literature review

　TANG Hongxia, YIN Wei

. 2018, 36(11):  858.  doi:10.3969/j.issn.1000-3606.2018.11.014

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Objective　To investigate clinical features, diagnosis and treatment in patient with activated phosphoinositide 3-kinase δ syndrome (APDS) caused by PIK3CD gene mutation. Methods　Data of one patient diagnosed as APDS combined with arthritis were retrospectively analyzed, and the related literatures were reviewed. Result　The patient was a 4 years and 10 months old boy with hepatosplenomegaly, lymph node enlargement, coughing accompanied by fever, and a history of recurrent respiratory infection. Serum IgG < 0.07 g/L, IgA < 0.07 G /L, IgM 1.78 g/L; The number of CD19+B cells and CD4+T cells decreased and the CD4+/CD8+ ratio was inverted, which suggested primary immunodeficiency disease. Gene test identified a heterozygous missense mutation c.G3061(p.E1021K) in PIK3CD gene , which confirmed the diagnosis of APDS. During hospitalization, swelling was observed on both knee joints, especially on the left side, and he was unable to walk. However, through intravenous injection of immunoglobulin and oral naproxen, swelling joints were obviously relieved, and he could walk independently. Conclusions　APDS is mainly manifested by recurrent respiratory tract infection, hepatosplenomegaly, enlargement of lymph node, high susceptibility to Epstein-Barr virus and cytomegalovirus. Some children may develop arthritis.

Analysis of respiratory etiology and clinical features in 246 hospitalized children with acute asthma exacerbation in Chongqing

　ZHANG Yao, REN Luo, GAO Yu, WANG Lili, LI Hui, YU Yiyi, LUO Zhengxiu, LIU Enmei, XIE Xiaohong

. 2018, 36(11):  862.  doi:10.3969/j.issn.1000-3606.2018.11.015

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Objective　To investigate the respiratory pathogens and clinical characteristics among children less than 6 years old and hospitalized with asthma exacerbation. Methods　From June 2009 to December 2016, 246 nasopharyngeal aspirate (NPA) from hospitalized children with acute asthma exacerbations were collected, and only one specimen was collected from each child; PCR and q-PCR were performed to detect respiratory syncytial virus (RSV), influenza virus (IFV), parainfluenza virus (PIV), human metapneumovirus (HMPV), coronavirus (CoV), human rhinovirus (HRV), adenovirus (ADV), human bocavirus (HBoV) and mycoplasma. Bacteria isolated at the same time. Results　162 males and 84 females were enrolled in the study, and the median age is 31 months (9-71 months); among them, there were 154 cases younger than 3 years old, and 92 cases aged 3-5 years old; 189 cases were mild asthma exacerbations, and 57 cases were severe asthma exacerbations. The number of hospitalized children with acute asthma in autumn is the highest. Among these 246 NPA specimens, 193 (78.5%) were positive for respiratory viruses, NPA culture was positive in 97 (39.4%), 16 (6.5%) were positive for Mycoplasma pneumoniae, but none was positive for Pneumonia chlamydia. The highest virus detection rate is RSV and HRV, moreover the detection rate of HRVC is significantly higher than other subtypes of HRV(P<0.05) ; HRV detection rate showed increased trend in spring and autumn (P>0.05); RSV has the highest detection rate in winter (P<0.05). Detection rate of human bocavirus and total respiratory virus was significantly increased in children younger than 3 years old; Detection rate of RSV is higher in children younger than 3 years than in children aged 3-5 years, while the difference was not statistically significant (P>0.05); there is no significant difference of HRV detection rate between different age groups (P>0.05). There is no difference in the detection of pathogens in children with mild and severe acute asthma exacerbations (P>0.05). The proportion of irregularly inhaled corticosteroids in hospitalized children with acute asthma exacerbations was 192(78.0%). Conclusions　The respiratory pathogens in hospitalized children with acute asthma exacerbations are mainly detected as viruses in our city. The detection of virus is decreased with ages. Respiratory virus infections  are important causes of acute asthma exacerbation in children younger than 6 years, and viral infections may be more important for acute asthma exacerbation in infants and young children.

Risk factor of neonatal respiratory distress syndrome in twins

　TAN Yi, GUO Lu, HU Xiaoyu, LI Luquan

. 2018, 36(11):  867.  doi:10.3969/j.issn.1000-3606.2018.11.016

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Objective　To analyze the risk factors of neonatal respiratory distress syndrome (NRDS) in twins. Methods Medical record of twins charged in Children's Hospital of Chongqing Medical University between 2005 and 2016 were retrospectively reviewed. Twins with one of sibling suffered from NRDS were enrolled and were divided into NRDS group and non-NRDS group, and infants were divided into less than 34 weeks group and more than 34 weeks group according to their gestational age. The potential risk factors of NRDS including gender, birth weight, delivery order, amniotic fluid contamination, premature rupture of membranes, Apgar score at 1 and 5 minutes after birth were compared between two groups. Results　A total 72 pairs of twins were recruited and no difference of gender and birth weight were found between NRDS and non-NRDS groups (P >0.05). Rate of second-born twins (66.7% vs. 33.3, χ2=16, P =0.000) and lower Apgar score at 1 minute after birth (41.7% vs.22.2%, χ2=6.261, P =0.012) were significantly higher in twins with NRDS than those without NRDS. However, there was no significant difference of Apgar score at 5 minute between NRDS and non-NRDS groups (P>0.05). For twins with more than 34 weeks of gestational age, there were no statistically significant difference of birth order and the Apgar score at 1 minute between NRDS and non-NRDS groups (P>0.05). For twins less than 34 weeks of gestational age, the rate of second-born and lower Apgar score at 1 minute in NRDS group were higher than that in non-NRDS group (P<0.05). Logistic regression analysis showed that second-born twins was associated with higher incidence of NRDS (OR=4, 95%CI: 2.00~8.00). Conclusions　The second-born twins with less than 34 gestational age had increased odds of RDS.

Comparison of clinical features of necrotizing enterocolitis with spontaneous intestinal perforation in infants

WANG Xueqiu, CHEN Shi, GUO Lu, HU Xiaoyu, WANG Zhengli, HE Yu, LI Luquan

. 2018, 36(11):  871.  doi:10.3969/j.issn.1000-3606.2018.11.017

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Objective　To analyze the clinical features of neonatal necrotizing enterocolitis (NEC) by comparison to spontaneous intestinal perforation (SIP). Methods　Medical records of infants with surgical NEC or SIP in the Children's Hospital of Chongqing Medical University between May 1996 and Aug. 2016 were retrospectively reviewed. The perinatal demography, comorbidities, complications and outcomes between the two groups were compared. Results　A total of 70 infants with surgical NEC and 31 infants with SIP were enrolled in the study, and the gestational age, birth weight and onset age were similar in both groups (P>0.05). Higher incidence of sepsis (47.1% vs. 12.9%, χ2=10.851, P=0.001) and hypoproteinemia (67.1% vs. 35.5%, χ2=8.808, P=0.003) were found in infants with NEC than those with SIP. The mortality was higher in infants with NEC than those with SIP (35.7% vs. 16.1%, χ2=3.947, P=0.047). Conclusions　Compared to infants with SIP, neonates with surgical NEC were associated with higher mortality due to higher incidence of sepsis and hypoproteinemia.

Advance in genetic research of conotruncal heart defects

WANG Tianhe, CHEN Sun, YU Yu

. 2018, 36(11):  875.  doi:10.3969/j.issn.1000-3606.2018.11.018

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　Conotruncal heart defects (CTDs) are complex congenital heart defects caused by abnormal development of ventricular outflow tract during embryonic period. They are common types of congenital heart disease and have poor prognosis after birth, which seriously endanger children’s health. In recent years, researchers at home and abroad have carried out a large amount of genetic study on CTDs. The specific disease-causing genes and their mechanism yet remain unknown, however, numbers of recognized candidate genes have been screened out from experimental animals and patients. The article focuses on summarizing researches on candidate gene mutations and provides reference for the etiology study of CTDs.

Features and clinical significance of IKZF1 aberrations in childhood B-cell acute lymphoblastic leukemia

BI Junqin

. 2018, 36(11):  880.  doi:10.3969/j.issn.1000-3606.2018.11.019

Abstract ( 372 )  

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　IKAROS family zinc finger 1 （IKZF1） gene encoding a zinc finger transcription factor IKAROS plays an important role in the regulation of B lymphoid cell differentiation and proliferation. IKZF1 is a clinical tumor suppressive factor. Deletion of IKZF1 results in either haploinsufficiency or dominating negative for IKAROS that contributes to the development of B-cell acute lymphoblastic leukemia (B-ALL), associated with an poor prognosis. Study of IKZF1 may lead to identifying new risk stratification molecular indicator for B-ALL for a better guidance to individualized therapy.