Table of Content

15 July 2019 Volume 37 Issue 7

  

Value of echocardiography in evaluating the prognosis of left-sided congenital diaphragmatic hernia in neonates

ZHAO Lijiao1, SUN Kun2, WU Yurong2, XI Lili1, WU Lijun1

Journal of Clinical Pediatrics. 2019, 37(7):  481.  doi:10.3969/j.issn.1000-3606.2019.07.001

Abstract ( )   PDF (1421KB) ( )  

Related Articles | Metrics

Objective　To explore the value of echocardiography in evaluating the prognosis of left-sided congenital diaphragmatic hernia (CDH) in neonates. Methods　The left-sided CDH neonates born from January 2015 to January 2018 were selected as study subjects, and their general conditions and echocardiographic data were reviewed. According to whether the patients were alive 30 days after birth, they were divided into survival group and death group for comparative analysis. Results　A total of 65 newborns with left-sided CDH were enrolled, including 48 in the survival group and 17 in the death group. Compared with the death group, the survival group had higher gestational age and birth weight, lower proportion of continuous right-to-left shunt of ductus arteriosus, lower trans-tricuspid pressure gradient, larger right pulmonary artery (RPA) diameter and left ventricular end-diastolic diameter (LVDd), and there were significant differences (P<0.05). Multivariate logistic regression analysis showed that trans-tricuspid pressure gradient and LVDd were independent predictors of poor prognosis (P<0.05). Conclusion　Echocardiography plays an important role in evaluating the clinical prognosis of left-sided CDH in neonates.

Study on the changes of oxygen saturation and heart rate in healthy full-term newborns in plateau area during the first 30 minutes after birth

　XIA Cheng1, CHEN Dapeng2, LIU Qin1, LIU Ying1, RANG Siji1, ZHOU Xiaoyan3, FENG Yi2

Journal of Clinical Pediatrics. 2019, 37(7):  485.  doi:10.3969/j.issn.1000-3606.2019.07.002

Abstract ( )   PDF (1241KB) ( )  

Related Articles | Metrics

Objective　To explore the changes of blood oxygen saturation (SpO2) and heart rate (HR) in healthy full-term neonates in plateau area within 1 to 30 minutes after birth. Method　The SpO2 and HR of 194 normal full-term newborns at different altitudes were continuously measured by pulse oximeter 1~30 minutes after birth, and the 5th ~ 95th percentile charts of SpO2 and HR at 1~30 minutes after birth were drawn. The differences were compared among different delivery modes, sexes and altitudes in newborns. Results　One minute after birth, the average SpO2 and HR of newborns were 59%±4% and 135±13 times/min. Then SpO2 gradually increased, reaching 80% at 5 minutes, 89% at 10 minutes and stabilizing at about 95% at 15 minutes. HR stabilized at about 175 times/min 2 minutes after birth. The SpO2 differences of newborns at different altitudes were statistically significant from 1 to 15 minutes after birth (P< 0.001). With the increase of altitude, SpO2 of newborns decreased, and the difference disappeared after 20 minutes. The HR of newborns at different altitudes had significant difference from 1 to 30 minutes after birth (P<0.001), and the the HR increased over the altitude. The trend of SpO2 and HR changes over time from 1 to 30 minutes after birth was different in different delivery modes (F=2.45, 2.09, P< 0.05), but they were similar between different genders (P>0.05). Conclusion　As the altitude increases, the SpO2 from 1 to 10 minutes after birth could be slightly lower than the SpO2 recommended by the asphyxia resuscitation guide, and and it takes longer to rise to 90%. The neonatal HR was lower at the higher altitude. In the plateau area, the performance of asphyxia recovery should be combined with the clinical manifestations, and oxygen should be used cautiously to avoid high oxygen damage.

Long-term effects of high lateral posterior wall epicardial pacing on cardiac function in children

　ZENG Ziliang1, ZENG Shaoying2, XU Gang2, WU Yangzi2, ZHANG Zhiwei2

Journal of Clinical Pediatrics. 2019, 37(7):  489.  doi:10.3969/j.issn.1000-3606.2019.07.003

Abstract ( )   PDF (1221KB) ( )  

Related Articles | Metrics

Objective　To observe and analyze the changes of left ventricular function after long-term left ventricular high lateral posterior wall epicardial pacing, and to explore the optimal location of epicardial electrode implantation. Methods　Clinical and echocardiography data before operation and at last follow-up in 56 children implanted left ventricular high lateral wall epicardial pacing electrode from November 2008 to August 2016 were retrospectively analyzed. The results of two ultrasound examinations were analyzed. Results　Among the 56 cases, 31 had postoperative bradyarrhymia, and 25 had congenital or myocarditis bradyarrhymia. The median age at the implantation was 3.25 years, and the median follow-up period was 1.63 years. Ultrasound examination showed that preoperative left ventricular ejection fraction (LVEF) and left atrial (LA) diameter were (66.39±9.96) % and (25.48±7.22) mm respectively, and LVEF and LA diameter at the last follow-up were (69.32±7.13) % and (23.44±6.29) mm respectively, and the differences were statistically significant (P<0.05). The left ventricular end diastolic diameter (LVDd) and left ventricular end systolic diameter (LVDs) Z scores were ?1.42 (?4.67~0.89) and 0.06 (?2.39~2.72) at last follow-up, which were significantly reduced compared with 0.16 (?1.31~2.83) and ?1.88 (-4.48~0.10) at preoperation, and differences were statistically significant (P<0.05). Conclusion　High lateral posterior wall pacing of left ventricle can effectively protect and improve left ventricular function. It is an ideal location for epicardial implantation of pacing electrode in pediatric treatment of bradyarrhythmia.

Mutations in the coding regions of DNAI1 and DNAH5 genes in heterotaxy syndrome in children

XU Mengmeng1, XU Yuejuan1, CHEN Sun1, LI Fen2, SUN Kun1

Journal of Clinical Pediatrics. 2019, 37(7):  494.  doi:10.3969/j.issn.1000-3606.2019.07.004

Abstract ( )   PDF (2183KB) ( )  

Related Articles | Metrics

Objective　To screen the mutations in coding region of DNAI1 and DNAH5 genes in heterotaxy syndrome in Chinese Han children. Methods　Children diagnosed with heterotaxy syndrome and healthy children were recruited clinically. Peripheral blood DNA was extracted for whole exon sequencing, and nucleotide variations in the coding region of DNAI1 and DNAH5 genes were detected. Sanger sequencing was performed to verify the mutation sites found by exon sequencing. The effect of site variation on protein function was analyzed by bioinformatics software Mutationtaster, SIFT and PolyPhen-2. Results　Exon sequencing results of 81 children with heterotaxy syndrome and 89 healthy children can be used for follow-up analysis. Three coding region mutation sites in each of DNAI1 and DNAH5 gene were found in 81 children with heterotaxy syndrome. Four (4.94%) children carried DNAI1 gene mutation, and 2 (2.50%) carried DNAH5 gene mutation. The mutation site was not found in 89 healthy children. Bioinformatics analysis suggests that the above mutation sites may destroy protein function. Conclusions The mutation rates of DNAI1 and DNAH5 gene in Chinese Han children with heterotaxy syndrome were 4.94% and 2.50%, respectively. DNAI1 and DNAH5 gene mutations may be associated with heterotaxy syndrome in Chinese Han children.

Cardiac Kasabach-Merritt syndrome presenting as recurrent pericardial effusion in an infant: a case report

　BAI Huike, AN Yong, WU Chun, LEI Hongbo, JIN Xin

Journal of Clinical Pediatrics. 2019, 37(7):  500.  doi:10.3969/j.issn.1000-3606.2019.07.005

Abstract ( )   PDF (1734KB) ( )  

Related Articles | Metrics

　Objective　To the clinical characteristics, diagnosis and treatment of cardiac K-M syndrome. Method　The clinical data of cardiac Kasabach-Merritt syndrome (K-M syndrome) in an infant were retrospectively analyzed and the related literature was reviewed. Results　A 33-day-old boy presented with polypnea, jugular venous distention and low cardiac sound. Color doppler echocardiography and chest CT indicated massive pericardial effusion. Blood routine showed a decrease in platelet count. Patient was treated with acute partial resection of pericardium and drainage. Intraoperative findings included a 6 cm × 5 cm fixed firm mass on the surface of ascending aorta root, superior vena cava, the upper edge of right atrial appendage, and long strip protruding hard fixed mass seen in the right ventricular outflow tract and main pulmonary artery. Pathological findings in partial tumor of right ventricular surface and parietal pericardium showed Kaposi's hemangioendothelioma. The infant was diagnosed with cardiac K-M syndrome. The steroid therapy was administered. Conclusion　Cardiac K-M syndrome is a rare disease and is primarily diagnosed by clinical manifestations, imaging and pathological examination. It can be treated by oral steroid hormones and surgery if necessary.

Application value of peripheral blood smear in screening and diagnosis of infantile-onset Pompe disease

LIU Lianshuang, FU Lijun, MIU Yan, CHEN Hao, HUANG Meirong, WU Jinjin, GUO Ying, LIU Tingliang, SHEN Jie, LI Fen

Journal of Clinical Pediatrics. 2019, 37(7):  503.  doi:10.3969/j.issn.1000-3606.2019.07.006

Abstract ( )   PDF (1417KB) ( )  

Related Articles | Metrics

Objective　To explore the value of peripheral blood smear examination in screening and diagnosis of infantile-onset Pompe disease (IOPD). Method　The results of peripheral blood smears in 29 children diagnosed with IOPD by enzymology and gene testing from 2013 to 2017 were retrospectively analyzed. Control values were obtained from 12 patients diagnosed with non-IOPD hypertrophic cardiomyopathy during the same period. Results　A large number of vacuolar lymphocytes were found in the blood smear of IOPD group, and the median percentage of vacuolar lymphocytes was 36% (19% - 67%). However, in the control group, almost no vacuolar lymphocytes were observed, and the median percentage of vacuolated lymphocytes was 0% (0% - 6.7%). A large number of periodic acid-schiff (PAS) positive lymphocytes were found in the blood smears of IOPD group, and the median percentage was 36% (19% - 66%). In control group, almost no PAS-positive lymphocytes were observed, and the median percentage of that was 0% (0% - 6.0%). The percentages of vacuolar lymphocyte and PAS positive lymphocytes between the two groups had significant difference (P < 0.01), and there was no overlap in the scatter plot. Conclusion　Peripheral blood smear examination is quick, simple and easy to perform. Observation and calculation of percentages of vacuolar and PAS positive lymphocyte are helpful for screening and early diagnosis of IOPD.

Expression and significance of Hedgehog pathway related molecules BMI1 and Gli1 in pediatric nephroblastoma

GUI Ting, WANG Lijun, CHU Caiting, LIU Ming, ZHANG Yuzhen, LI Yuhua, WANG Dengbin

Journal of Clinical Pediatrics. 2019, 37(7):  507.  doi:10.3969/j.issn.1000-3606.2019.07.007

Abstract ( )   PDF (1905KB) ( )  

Related Articles | Metrics

Objective　To investigate the expression of Hedgehog signaling pathway related molecules BMI1 and Gli1 in children with nephroblastoma (NB) and their relationship with prognosis. Methods　Pathological specimens of NB tissues and adjacent normal tissues in 37 NB children were collected. The expression of BMI1 and Gli1 proteins in tumor tissues was observed by immunohistochemical staining, and the relationship of BMI1 and Gli1 protein expressions with clinicopathological characteristics and serum tumor markers in NB children were analyzed. The relationship between BMI1 and Gli1 expressions and NB prognosis in children were analyzed using a public database. Results　Among the 37 children, 14 were male and 23 were female, and the median age was 2 years (3 months to 6 years). The expressions of BMI1 and Gli1 in NB tissues were higher than those in normal tissues adjacent to cancer (P<0.01). BMI1-positive cells were observed in the tumor tissues of 37 children, while Gli1 positive cells were not detected in the tumor tissues of 16 children. Twenty-two NB children with high BMI1 expression were more likely to have distant metastasis and had the increased expression of serum alpha-fetoprotein and carbohydrate antigen-125 (CA-125), and the overall survival period was shorter. The differences were statistically significant (P<0.05). Increased Gli1 expression was not associated with clinicopathological features or prognosis in NB children. Conclusion　The expression of Hedgehog pathway related molecules BMI1 and Gli1 was increased in NB tumor tissues. BMI1 is positively correlated with tumor metastasis and poor prognosis and it may be an important factor in the development of NB.

Expression and significance of IL-33 and sST2 in peripheral blood of cytomegalovirus hepatitis in infants

　BU Miaoran, YU Jingjing, YE Lili, MENG Lingjian, WANG Jun

Journal of Clinical Pediatrics. 2019, 37(7):  512.  doi:10.3969/j.issn.1000-3606.2019.07.008

Abstract ( )   PDF (1185KB) ( )  

Related Articles | Metrics

Objective　To explore the expression and significance of interleukin-33 (IL-33) and soluble suppression of tumorigenicity 2 (sST2) in human cytomegalovirus (HCMV) hepatitis in infants. Methods　Forty infants with HCMV infection were selected, including 20 in hepatitis group and 20 in other diseases group, and 20 healthy infants in the same period were selected as the control group. The plasma levels of IL-33, sST2, IFN-γ and IL-4 were measured by ELISA, and the ratio of Th1 and Th2 cells in peripheral blood was measured by flow cytometry. Results　The plasma levels of IL33, sST2, IFN-γ, IL-4 and the proportion of Th1 and Th2 cells in HCMV-positive hepatitis group and other diseases group were higher than those in the control group, and they were higher in hepatitis group than in other diseases group. The levels of IFN-γ/IL-4 and Th1/Th2 in hepatitis group and other diseases group were lower than those in the control group, and they were lower in hepatitis group than in other diseases group. The differences were statistically significant (P<0.05). Plasma IL-33 concentration in HCMV-positive hepatitis group was positively correlated with sST2 and IL-4 concentrations and the proportion of Th2 cell (P<0.05), while it was negatively correlated with the IFN-γ/IL-4 and Th1/Th2 (P<0.05). Conclusion Th1/Th2 imbalance exists in infants with HCMV hepatitis. IL-33 may be involved in Th2 dominant response and Th1/Th2 imbalance caused by HCMV infection.

Clinical characteristics of neonatal Mycoplasma pneumoniae infection

LU Lianghua, FENG Xing

Journal of Clinical Pediatrics. 2019, 37(7):  516.  doi:10.3969/j.issn.1000-3606.2019.07.009

Abstract ( )   PDF (1180KB) ( )  

Related Articles | Metrics

　Objective　To explore the epidemiological and clinical characteristics of Mycoplasma pneumoniae (MP) infection in neonates. Method　The clinical data of 1348 neonates hospitalized for lower respiratory tract infection (LRTI) from January 2011 to December 2017 were retrospectively analyzed. All patients were divided into MP infection group and non-MP infection group according to the pathogen detection results. Results　MP was detected in sputum specimens from 135 neonates in 1348 neonates. Among the 135 MP infected neonates, 19 (14.1%) were simultaneously infected with RSV. In 1348 neonates, the median age was 22 days (ranging from 1 to 28 days), the male to female ratio was 1.11:1, the mean birth weight was (3550.0+280.0) g, and the mean gestational age was (37.4+6.4) weeks. Compared with the non-MP infection group, the ratio of newborns at age of 22-28 days, the incidence in spring and the proportion of fever were higher, and the proportion of shortness of breath was lower in the MP infection group, and the differences were statistically significant (P<0.01). Logistic regression analysis showed that age>14 days, fever,and shortness of breath were associated with MP infection in neonates (P<0.05). Conclusion　MP is an important pathogen of neonatal respiratory tract infection. Newborns with MP infection were older and had more fever and less shortness of breath.

Henoch-Schönlein purpura with terminal ileitis: a case report and literature review

　SHEN Xiaoyu, ZHOU Wei, DING Fei, ZHOU Zhengyu, HUANG Hua, YIN Lei

Journal of Clinical Pediatrics. 2019, 37(7):  520.  doi:10.3969/j.issn.1000-3606.2019.07.010

Abstract ( )   PDF (1280KB) ( )  

Related Articles | Metrics

Objective　To summarize the clinical features of Henoch-Sch?nlein purpura (HSP) with terminal ileitis. Method The clinical data of HSP complicated with terminal ileitis confirmed by pathological biopsy in a child was retrospectively analyzed, and the related literature was reviewed. Results　A 5-year-old boy was admitted to hospital due to abdominal pain and rash on both lower extremities. Ultrasonography and abdominal CT showed partial intestinal wall thickening. Endoscopy revealed patchy hemorrhage and scattered ulcers in the terminal ileum, suggesting terminal ileitis and excluding inflammatory bowel disease. Emergency laparotomy was performed for acute abdomen on the fifth day after enteroscopy, and end ileum perforation was observed during the operation. Finally, endoscopic biopsy revealed IgA deposition. Because of the microscopic hematuria and proteinuria during the course of disease in addition of the rash, the child was diagnosed with HSP combined with terminal ileitis. Thirteen identical cases were retrieved, and when including 1 case in this study, a total of 14 cases were found. Among them, 9 children were older than 18 years, 9 had abnormal urine tests (microscopic hematuria and/or proteinuria) and 6 had undergone surgery. Conclusion　HSP complicated with terminal ileitis is rare and easy to be confused with Crohn disease. If there is clinical doubt, pathological biopsy should be conducted as soon as possible to make a definite diagnosis.

Clinical analysis of 11 cases with Wolf-Hirschhorn syndrome

OU Yuexu, CAO Jie

Journal of Clinical Pediatrics. 2019, 37(7):  524.  doi:10.3969/j.issn.1000-3606.2019.07.011

Abstract ( )   PDF (1572KB) ( )  

Related Articles | Metrics

Objective　To investigate clinical features, genetic trait and treatment and prognosis of children with WolfHirschhorn syndrome (WHS). Methods　Clinical data of 11 children with WHS enrolled between June 2009 to June 2018 was retrospectively analyzed. Results　A total 15 cases (6 males and 9 females) met chromosome abnormalities diagnostic criteria, and the median age of children receiving medication for the first time was 4 months. Chromosomal analysis of 15 patients showed that most WHS individuals (46.6%) had pure 4p terminal deletions, and others had pericentric inversion and duplication/ insert and derivative and ring chromosome 4. Among them, 3 cases received further genetic testing to confirm the size of deletion. 11/15 children's clinical manifestations had been collected integrally, and the onset symptom of 5 cases was epilepsy, 5 cases poor neonatal reflex or low weight, and 1 case pneumonia. The main clinical manifestations included growth/ mental retardation, epilepsy and the “Greek warrior helmet” appearance. In addition, there were other multiple congenital anomalies. Three cases died of pneumonia and convulsions in the first years of life, the survivors all had severe psychomotor retardation. Conclusion WHS is a structural aberration of chromosome 4 which is featuring as “growth/mental retardation, epilepsy, special face and multiple congenital anomalies” caused by critical gene fragments loss in this segment. WHS has a poor prognosis.

Clinical study of recurrent hyperammonemia caused by argininosuccinic aciduria

MA Xin, ZHU Dan, GONG Youzhe, WANG Meijuan, JIN Meng, ZHONG Xuemei

Journal of Clinical Pediatrics. 2019, 37(7):  530.  doi:10.3969/j.issn.1000-3606.2019.07.012

Abstract ( )   PDF (1274KB) ( )  

Related Articles | Metrics

　Objective　To explore the diagnosis and treatment of recurrent hyperammonemia caused by argininosuccinic aciduria. Method　The diagnosis, treatment and follow-up of argininosuccinic aciduria in a child were retrospectively analyzed, and the related literature was reviewed. Results　A 13-month-old boy was admitted to hospital for vomiting, sleepiness and poor reaction. The results showed elevated blood ammonia (138.02 μmol/L), abnormal liver function, hypokalemia, elevated blood citrulline (65.64 Umol/L), and abnormal electroencephalogram. The second generation gene sequencing was performed on hyperammonia-related genes, and the compound heterozygous mutation of argininosuccinate lyase (ASL) gene was found. After the treatment with protein restriction diet and arginine supplementation, the children's hyperammonia still recurred and the liver was progressively enlarged. One year after the diagnosis, liver transplantation was performed. At present, 1 year after transplantation, the liver function, blood ammonia, growth and development of the child were normal. Conclusion　The clinical manifestations of argininosuccinic aciduria are complex, and hyperammonia is an important manifestation. Gene examination is helpful for diagnosis and liver transplantation is effective.

Clinical manifestations and gene mutation analysis of proteolipid protein 1 in Pelizaeus-Merzbacher disease in two pedigrees

HU Shuxiang, CAI Huiqiang, PENG Guilan

Journal of Clinical Pediatrics. 2019, 37(7):  534.  doi:10.3969/j.issn.1000-3606.2019.07.013

Abstract ( )   PDF (1718KB) ( )  

Related Articles | Metrics

Objective　To explore the clinical manifestation of Pelizaeus-Merzbacher disease (PMD) and the mutation of protein lipoprotein 1 (PLP1) gene. Method　Clinical data and genetic analysis of PMD in 2 probands and their family members were collected. Results　Both of the two probands were male and had developmental retardation from childhood, and nystagmus was found shortly after birth. Paroxysmal spasm with progressive emaciation was developed in proband 1 at 2 years of age. Brain magnetic resonance imaging (MRI) of both probands showed white matter dysplasia and myelin sheath dysplasia. Each of the 2 probands had an elder brother with similar manifestations. Gene sequencing results showed that proband 1 had a hemizygous mutation, c. 137T > c (p.eu46pro), in exon 2 of the PLP1 gene and the proband 2 had a hemizygous mutation, c. 62C > T (p.ala21val), in exon 2 of the PLP1 gene. The mothers of the two probands had normal phenotype, but both of them had the same heterozygous variation as the probands; and the elder brother of both probands had the same hemizygote mutation as the probands. The mutation sites of 2 probands were not reported and confirmed as pathogenic sites by pathogenicity analysis of ACMG. Conclusion　The mutation and genetic characteristics of PLP1 gene in two families were identified. The mutation site was not included in ClinVar database, and the findings enriched the pathogenic mutation spectrum of PLP1.

Loeys-Dietz syndrome caused by mutation in TGFBR2 gene: a case report

JIANG Yongsheng, ZHANG Xiaoge

Journal of Clinical Pediatrics. 2019, 37(7):  538.  doi:10.3969/j.issn.1000-3606.2019.07.014

Abstract ( )   PDF (1328KB) ( )  

Related Articles | Metrics

Objective　To explore the clinical characteristics and related pathogenic genes of Loeys-Dietz syndrome. Method　The clinical data of Loeys-Dietz syndrome in a child were retrospectively analyzed and the related literature was reviewed. Results　A 6-month-old boy was characterized with special facial features (enophthalmos, hypertelorism, exotropia, short mandible, high palatal arch and bifid uvula) and other features (lower muscular tension, relaxed distal joints and spiderlike fingers/toes). He was diagnosed with talipes equinovarus 2 weeks after birth. Color Doppler echocardiography indicated the formation of aortic sinus aneurysm, and gene detection showed the heterozygous variation of c.1085A>G (p.His362Arg) in TGFBR2 gene. The diagnosis of Loeys-Dietz syndrome was confirmed. Conclusion　Loeys-dietz syndrome can be diagnosed based on the aortic aneurysm formation, hypertelorism and bifid uvula, combined with pathogenic gene mutation.

Marfan syndrome caused by new mutation of FBN1 gene: a case report and literature review

WANG Hongli, HOU Miao, WANG Bo, YAN Wenhua

Journal of Clinical Pediatrics. 2019, 37(7):  541.  doi:10.3969/j.issn.1000-3606.2019.07.015

Abstract ( )   PDF (1491KB) ( )  

Related Articles | Metrics

Objective　To improve the understanding of clinical phenotype and genotype of Marfan syndrome (MFS). Method　Clinical data of Marfan syndrome with FBN1 gene mutation in a child was retrospectively analyzed and related literature was reviewed. Results　A 4-year-4-month-old girl had a special facial features (long face, hypertelorism, high palatal arch) and spider-like fingers and toes. The patient is slender with a height of 115.0 cm (>P97), the span of upper limbs is 118.8 cm, the upper part is 60 cm, the lower part is 55 cm, and the weight is 19 kg (P50~P85). A grade II/VI systolic murmur could be heard at the apex of heart. Color echocardiography showed an atrial septal defect (4 mm), mitral valve disease with moderate regurgitation, tricuspid valve disease with mild to moderate regurgitation, and slightly widened sinus valsalva of the aorta. Cardiac CT showed the enlargement of left atrial and left ventricular. The chest radiograph showed the patchy shadow of the right lung, a slightly plump shadow of the heart, and locally uplifted right diaphragm. The patient had a history of right upper limb fracture and suffered from binocular ametropia. DNA was extracted from venous blood of child and her parents, and gene detection was performed by exon chip capture and high throughput sequencing. The results showed that there was a c.865 dupA heterozygous mutation of FBN1 gene in the child, which had not been reported. The mutation resulted in amino acid conversion from isoleucine (Ile) to asparagine (Asn) at position 289 and amino acid conversion from aspartic acid (Asp) to termination codon at position 290, leading to the early termination of amino acid coding. Pedigree examination showed that the mutation originated from the father of the child, and the father also had MFS with heterozygous mutation. Conclusion　A new exon heterozygous mutation of c.865dupA in FBN1 gene was found to cause MFS.

Clinical feature and genetic variation analysis of glutaric aciduria type I in a child

CUI Qingyang, SUN Weiwei, LU Jun

Journal of Clinical Pediatrics. 2019, 37(7):  545.  doi:10.3969/j.issn.1000-3606.2019.07.016

Abstract ( )   PDF (1440KB) ( )  

Related Articles | Metrics

Objective　To explore the characteristics of gene mutation of glutaric aciduria typeⅠ. Method　The clinical data and gene test results of glutaric aciduria type Ⅰ in a child were retrospectively analyzed. Results　A 1-year-11-monthold girl presented with diarrhea and convulsion. The patient had an elevated glutaryl carnitine level of 0.78 μmol/L and high urinary excretion of glutaric acid. Two pathogenic mutations in the GCDH gene were identified by second-generation sequencing. The splicing mutation of c.271+1G>A（IVS3+1G>A）is inherited from her father, while the missense mutation of c.938G>A is inherited from her mother. Pathogenicity of the two mutations has been already reported before, but it was first reported domestically. Conclusion　The gene mutation spectrum of glutaric aciduria typeⅠin China has been expanded.

Megalencephaly-capillary malformation-polymicrogyria syndrome caused by PIK3CA gene mutation: a case report and literature review

　ZENG Ting1,2, ZENG Peipei1, GUO Yi1, LIAO Linyan1,2, WANG Jian3, LI Honghui1,2

Journal of Clinical Pediatrics. 2019, 37(7):  549.  doi:10.3969/j.issn.1000-3606.2019.07.017

Abstract ( )   PDF (1347KB) ( )  

Related Articles | Metrics

Objective　To explore the clinical features of Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) caused by PIK3CA gene mutation. Method　The clinical phenotype, imaging findings and follow-up of MCAP caused by missense mutation of PIK3CA gene in a child were retrospectively analyzed, and the related literature was reviewed. Results　A girl aged 4 years and 2 months can only say ma, pa and understand simple instructions. She had unsteady walking gait and was easy to fall. The child had a head circumference of 56.9 cm, a high palatal arch, and a sinus tract in the left auricle. The left limb was more hypertrophic than the right side and the lower limb joints were over-extended. She had low muscle tension and the muscle strength was grade IV. Gessell development scales showed the development quotient was 32. Cranial magnetic resonance imaging showed type I chiari malformation with obstructive hydrocephalus. High-throughput exon sequencing results showed that PIK3CA gene had a "missense mutation of c.1133G>A, p.Cys378Tyr (heterozygous)", which was a new mutation. The parents of the children had normal genotypes. The child was followed up to the age of 5 years and 1 month. She could speak short sentences of 3-4 words and communicate in simple language. She was still unsteady in walking and easy to fall, with a head circumference of 57.7 cm. Conclusion　A case of MCAP caused by a new mutation of PIK3CA gene was found, which enriched the mutation spectrum of PIK3CA gene.

Advances in the preventive effect of caffeine on bronchopulmonary dysplasia

　Reviewer: ZHAO Weiming, MA Li, Reviser: GONG Xiaohui

Journal of Clinical Pediatrics. 2019, 37(7):  553.  doi:10.3969/j.issn.1000-3606.2019.07.018

Abstract ( )   PDF (1129KB) ( )  

Related Articles | Metrics

　Bronchopulmonary dysplasia (BPD) is a chronic lung disease and it seriously threatens the health of premature infants. Its pathogenic mechanism and risk factors are numerous. There is lack of ideal prevention and treatment in clinic. Caffeine clinically is the first line of prevention and treatment for BPD and it can reduce the incidence of BPD and improve the severity of the disease. But the specific mechanism of caffeine is not clear. Recent studies have found that caffeine inhibits a variety of BPD risk factors and promotes lung maturation. This article reviews the related research of caffeine in preventing BPD.

The mangement of infective endocarditis in children

MA Feiyue, GONG Fangqi

Journal of Clinical Pediatrics. 2019, 37(7):  557.  doi:10.3969/j.issn.1000-3606.2019.07.019

Abstract ( )   PDF (1092KB) ( )  

Related Articles | Metrics