Genetic analysis and prenatal diagnosis of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 due to variants of PIGT gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of a child with Multiple congenital malformations-hypotonia-epilepsy syndrome type 3 (MCAHS3) and provide prenatal diagnosis for her parents.@*METHODS@#A female child who had presented at Linyi People's Hospital on 27 July 2022 for recurrent convulsions for over 4 years was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were taken from the child and her parents and subjected for whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out on amniotic fluid sample at 18 weeks' gestation. Bioinformatic software was used to analyze the pathogenicity of the protein model for the variant loci.@*RESULTS@#The child was a 4-year-old female with frequent seizures, peculiar facial appearance, hypotonia and severe developmental delay. Genetic analysis revealed that she has harbored compound heterozygous variants of the PIGT gene, namely c.1126del (p.H376Tfs*56) and c.1285G>C (p.E429Q), which were respectively inherited from her mother and father. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.1126del (p.H376Tfs*56) variant was predicted to be pathogenic (PVS1+PM2_Supporting+PM4), and c.1285G>C (p.E429Q) variant was predicted to be likely pathogenic (PM2_Supporting+PM3+PM4). Prenatal diagnosis suggested that the fetus also harbored the same compound heterozygous variants, and the pregnancy was terminated with induced labor.@*CONCLUSION@#The c.1126del (p.H376Tfs*56) and c.1285G>C (p.E429Q) compound heterozygous variants of the PIGT gene probably underlay the MCAHS3 in this patient, and prenatal diagnosis has prevented birth of further affected child in this family.

One case of developmental epileptic encephalopathy caused by NR4A2 gene variation and literature review / 中华神经科杂志

Objective:To analyze the clinical characteristics of a child with developmental epileptic encephalopathy caused by NR4A2 gene mutation, and to summarize the clinical phenotypes and genotypes to improve the clinician′s understanding of this disease. Methods:The clinical data of a child with developmental epileptic encephalopathy admitted to Linyi People′s Hospital in August 2022 were collected, video electroencephalogram, craniocerebral magnetic resonance imaging and family whole exon sequencing were improved, and the suspected mutation sites were verified by Sanger sequencing. Relevant literature was consulted to summarize the clinical phenotypes and genetic characteristics of nervous system diseases caused by NR4A2 gene. Results:It was found that there was a heterozygous missense mutation at the locus c.866G>A (p.A289H) of NR4A2 gene in the child, which was a de novo mutation, and both parents were wild type. According to the American Society of Medical Genetics and Genomics variation classification, it was assessed as a suspected pathogenic variation. Through literature review, there were 16 related cases reported internationally, with clinical phenotypes including mental retardation/mental retardation, language disorders, seizures, muscle tone changes and different psychological and behavioral problems. Conclusions:The NR4A2 gene is not only associated with dopa responsive disorders, but also with neurological development, intellectual impairment, language development delay, and epilepsy. The mutation of NR42A gene c.866G>A (p.A289H) is the genetic cause of the patient, and the detection of this locus expands the NR4A2 gene spectrum. NR4A2 gene is one of the pathogenic genes of developmental epileptic encephalopathy.

Clinical and genetic analysis of a child with hyperekplexia / 中华神经科杂志

Objective:To analyze the clinical phenotype and gene sequencing results of a child with hyperekplexia, and to clarify her genetic etiology.Methods:The clinical information of the child was collected, and the whole exome sequencing of the child and her parents was performed. The suspected pathogenic variants were verified by Sanger sequencing and bioinformatics analysis.Results:There was a 12 years old girl, who was hospitalized in the Department of Pediatric Neurology of Linyi People′s Hospital because of "paroxysmal limb stiffness for more than 11 years and aggravated for half a month" on July 4, 2022. The girl showed exaggerated startle reflexes and generalized siffness in response to external sudden, unexpected stimuli, occasionally accompanied by apnea and cyanosis, frequent attacks occurred several times a day, lasting for 1-30 minutes, and early head and abdomen flexion can be relieved. She showed normal growth and development, no abnormality in brain magnetic resonance imaging and video electroencephalogram during seizure. The whole exome sequencing showed that there was a missense heterozygous mutation c.643T>C(p.W215R) in the SLC6A5 gene of the child. Neither of the parents carried this mutation, which was a novel and de novo variant. According to the guidelines of American College of Medical Genetics and Genomics, this variant was a likely pathogenic variant [PS2: de novo (both maternity and paternity confirmed) in the patient with the disease and no family history; PM2: undetected variants in the normal population; PP3: multiple softwares predicted that this mutation would have harmful effects on genes or gene products], and highly conserved. Swiss modeling found that the hydrogen bond of the modified amino acid also changed. Conclusions:Hyperekplexia is relatively rare and prone to misdiagnosis. The main clinical features are excessive startle reflexes (limb shaking, or jumping) to unexpected external stimuli, resulting in overall stiffness, normal growth and development, and normal video electroencephalogram during the seizure. The likely pathogenic heterozygous missense variant c.643T>C (p.W215R) of SLC6A5 gene is the genetic cause of this case.

Radiofrequency ablation of ventricular arrhythmias from the pulmonary sinus cusp in pediatric patients and the follow-up / 中华实用儿科临床杂志

Objective:To evaluate the strategy and safety of the radiofrequency ablation (RFA) on ventricular arrhythmias (VAs) originating from the pulmonary sinus cusp (PSC) in pediatric patients.Methods:Retrospective study.Fifteen patients with VAs originating from the PSC who were intervened by RFA in the Department of Pediatric Cardiology, Guangdong Provincial People′s Hospital between March 2014 to July 2020 were enrolled.All the patients met the indication criteria for RFA in pediatric patients.The electrocardiogram, ablation method of ablation were analyzed.Different curved catheters were selected for RFA according to the age and weight of the patients.The catheter was then inserted in a " U" or inverted " P" shape to the PSC.The long-term effect of ablation were reviewed.Results:The mean age and body weight of 15 patients with VAs originating from the PSC were (11.6±2.6) (6-15) years and (39.9±12.2) (19-65) kg, respectively.The electrocardiogram recorded during VAs originating from the PSC showed left bundle branch block and inferior axis with monomorphic R pattern, as well as a QS-wave in aVR and aVL.The electrocardiogram characteristics varied in patients with VAs originating from the PSC.The ideal excitation point was not found in the right ventricular outflow tract or the ablation was unsuccessful in all patients, and the earliest target was mapped and RFA was successful.Among the 15 patients, the successful ablation site was in the lower regions of the PSC, involving the right cusp in 11 patients(73.3%), the anterior cusp in 3 patients(20.0%), and the left cusp in 1 patient(6.7%). The earliest potential recorded at the PSC ablation site preceded the QRS complex onset by (27.3±6.0) ms.During the follow-up period for (2.7±2.0) years, no recurrence of VAs or complications were recorded.Conclusions:Under the premise of gentle catheterization procedure and appropriate radiofrequency energy, ablation was effective, safe and with low recurrence rate to eradicate VAs originating from the PSC in children.

Follow-up study of fetal cardiac birth defects after prenatal diagnosis and graded counseling / 中华妇产科杂志

Objective:To explore accurate prenatal diagnosis, full-coverage graded counseling and follow-up for the fetus with cardiac birth defects (CBD).Methods:CBD fetus diagnosed prenatal by echocardiography from January 2018 to December 2020 in Guangdong Provincial People's Hospital were enrolled. Fetal CBD was graded (Ⅰ-Ⅵ) according to prognosis and possible operation time after birth, and the classification criteria and common diseases included were proposed. After the prenatal grading counseling, the outcome of the fetus was followed-up. The induced labor rate, live birth rate, prenatal and postnatal ultrasound diagnosis coincidence rate and other indicators were calculated. The disease composition ratio, prognosis of fetus with different grades and the outcome of integrated treatment were analyzed.Results:The detection rate of fetal CBD was up to 16.2% (1 971/12 188), 30 cases of which were excluded. A total of 1 941 cases were included in this study, including 196 cases (10.1%) of gradeⅠ, 433 cases (22.3%) of gradeⅡ, 615 cases (31.7%) of grade Ⅲ, 261 cases (13.4%) of grade Ⅳ, 388 cases (20.0%) of gradeⅤ, 48 cases (2.5%) of grade Ⅵ. Grade Ⅱ and gradeⅢ (the operation time was within 1 year after birth) accounted for 54.0% (1 048/1 941). The distribution of some diseases in different grades had obvious proportion advantage, which was representative. Among 1 747 CBD fetus, 736 cases (induced labor rate 42.1%) chose to terminate pregnancy due to CBD. Of the 1 010 live births, 975 cases (96.5%) had the same prenatal and postnatal diagnosis, 3 cases were missed diagnosis and 32 cases were misdiagnosed. The diagnostic accuracy of live births with severe and complex congenital heart disease was 383 out of 389 (98.5%). A total of 258 cases have received surgery or intervention. The age at the time of surgery or intervention was different among grades（ χ2 =47.3， P<0.001）. With the improvement of prognosis from gradeⅠ to Ⅴ, the live birth rate increased and the induced labor rate decreased accordingly; the difference between grades was significant（ χ2 =623.6， P<0.001）. Conclusions:Prenatal diagnosis and graded counseling is important in the integrated model. Fetal CBD grading could refine post-natal treatment strategies, guide delivery decisions and become an evaluation standard.

Analysis of clinical phenotype and SCN1A gene variant in a pedigree affected with genetic epilepsy with febrile seizures / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with genetic epilepsy with febrile seizures plus (GEFS+).@*METHODS@#Clinical data of the proband and his family members were collected. Following extraction of genomic DNA, the proband was subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing of the proband and other family members.@*RESULTS@#The pedigree, including 6 patients with febrile seizures from 3 generations, was diagnosed with typical GEFS+. Among them, 2 had febrile seizures (FS), 1 had febrile seizures plus (FS+), and 3 had febrile seizures with focal seizures. High-throughput sequencing revealed that the proband has carried a heterozygous missense variant of c.4522T>A (p.Tyr1508Asn) of the SCN1A gene. Sanger sequencing confirmed that other five patients and one normal member from the pedigree have also carried the same variant, which yielded a penetrance of 85.7%.@*CONCLUSION@#The c.4522T>A (p.Tyr1508Asn) of the SCN1A gene probably underlay the disease in this pedigree. The pattern of inheritance was consistent with autosomal dominant inheritance with incomplete penetrance. Above finding has enriched the variant spectrum of the SCN1A gene.

Case report of Bentall operation for child Loeys Dietz syndrome / 中华实用儿科临床杂志

The clinical data, follow-up records and genetic results of a child with growth retardation and systemic multiple malformations, of whom was diagnosed Loeys Dietz syndrome (LDS), were retrospectively analyzed.This was a 3 years and 3 months old boy presented with incomplete cleft palate, spasm of middle fingers in both hands, hernia and hyperextension of knee joint.Color doppler ultrasound showed dilation of aortic sinus and ascending aorta, and mo-derate aortic regurgitation in the child.The analysis of genetic cardiovascular gene sequencing showed that there was a heterozygous mutation in TGFβR2 gene, which was a missense mutation.The child was diagnosed LDS type 2 according to the results of gene detection and clinical characteristics.He underwent " Bentall" aortic valve replacement + coronary artery lengthening transplantation (Cabrol) in Guangdong Provincial People′s Hospital.Postoperative recovery was satisfactory.This is the youngest case of Bentall operation reported in China.Connective tissue and organs are involved in the LDS.Systemic arteries, especially big arteries, are seriously involved and progressing rapidly.The combination of gene detection and clinical symptoms is the great value in the differential diagnosis of LDS.Echocardiography is an important method to monitor the progress of cardiovascular disease in children with LDS, which is important for the selection of surgical methods and timing.Bentall operation can also achieve good prognosis in children under 4 years old.

Application and follow-up of implantable cardioverter defibrillator for children and adolescents / 中华实用儿科临床杂志

Objective:To explore the application of implantable cardioverter defibrillator(ICD) in the prevention of sudden cardiac death for children and adolescents, the treatment of adverse events and follow-up studies.Methods:A total of 19 pediatric patients (12 males, 7 females) were admitted in the Department of Pediatric Cardio-logy, Guangdong Provincial People′s Hospital from January 2008 to March 2019, and their previous inpatient and outpatient data including medical history, ICD implantation method, postoperative program control, the use of antiarrhythmic drugs, proper/improper discharge of ICD and management of ventricular electrical storm were collected retrospectively and follow-up study was carried out.Results:A total of 19 pediatric patients were included, all of whom had once syncope or more before ICD implantation.The age at the time of ICD implantation was (12.30±2.08) years, and the weight was (40.00±13.93) kg.Eleven patients were implanted in the subpectoralis major space, 6 cases in the subfascial space, and 2 cases in the left abdomen and left armpit, respectively.All patients received oral antiarrhythmic drugs after surgery.The follow-up period was 3.2 years(0.3-11.1 years). All the children survived without complications such as electrode fracture, dislocation, venous thrombosis, cardiac perforation, capsular hematoma, rupture, and infection.Twelve cases (63.2%) had discharge events, including 10 cases (83.3%) of appropriate recognition/treatment events, and 2 cases (16.7%) of inappropriate recognition/treatment events, while 5 cases were ventricular electrical storms.Totally, 7 ICD cases (36.8%) were equipped with remote monitoring system, and 4 cases (57.1%) were detected whit adverse reactions, which were timely handled online and offline, thus avoiding adverse consequences.Conclusions:Currently, ICD is the most effective treatment for the prevention of sudden cardiac death in children and adolescents.According to age, weight and developmental conditions, different implantation methods should be selected.Appropriate/inappropriate discharge events after implantation should be identified in time, drug treatment should be optimized, and radiofrequency ablation should be performed if necessary.

Data analysis of active surveillance of foodborne diseases in the sentinel hospital of Shiyan City, 2013-2018 / 公共卫生与预防医学

Objective To investigate the epidemiological and etiological characteristics of foodborne diseases in Shiyan City, and to provide targeted measures for the prevention and control of foodborne diseases. Methods The surveillance data of foodborne diseases reported by Taihe Hospital of Shiyan City from 2013 to 2018 was collected and analyzed. Results A total of 1 742 cases of foodborne diseases were analyzed. The incidence peaked twice during the year, May to August and October to November. The pre-school children (≤6 years old) were at the highest risk of contracting foodborne diseases, and were mainly those in kindergartens, as well as those not in school. Grain and grain products accounted for the highest proportion of the presumably exposed foods． The main location of eating contaminated foods was in households. A total of 1 217 samples were tested, and 92 were positive, of which 71 strains were detected with Salmonella, accounting for the highest proportion. Preschool children and the elderly (≥66 years old) had higher detection rates than others. The food of infants and young children was found to have the highest detection rate. Conclusion According to the epidemiology and etiological characteristics of foodborne diseases in Shiyan City, the publicity and education of food safety should be strengthened and the surveillance network system of foodborne diseases should be further improved.

Outcome and follow _up analysis of transcatheter or surgical therapy for neonates with pulmonary atresia with intact ventricular septum and critical pulmonary stenosis / 中华实用儿科临床杂志

Objective To evaluate the safety and effectiveness of transcatheter or surgical procedure for neo_nates diagnosed with pulmonary atresia with intact ventricular septum(PA/IVS)or critical pulmonary stenosis(CPS) by retrospectively analyzina the clinical data,thus to discuss the clinical strategy decision. Methods From November 2006 to August 2018,105 neonates(PA/IVS 51 cases,CPS 54 cases)went through transcatheter or surgical procedure in xuangdong Provincial Cardiovascular Institute(transcatheter procedure 43 cases,surgery 62 cases). All cases mani_fested mild to moderate right ventricular dysplasia. Transcatheter procedure included pulmonary radio frequency perfora_tion and percutaneous balloon pulmonary valvuloplasty( PBPV). Surgical procedure included reconstruction of right ventricular outflow tract(transannular patch),pulmonary valvotomy and closed transventricular pulmonary valvuloplas_ty,while Aortic _Pulmonary shunt was performed in certain cases. Average follow _up period was(40. 1 ± 36. 9) months. Hospitalization and follow_up data were analyzed to evaluate the safety and efficacy of transcatheter and surgi_cal procedure. Results Operative time,hospital stay,complication rate were lower in transcatheter procedure group than those of surgery group[(107. 8 ± 61. 6)min υs.(183. 3 ± 36. 8)min,(18. 6 ± 7. 9)d υs.(31. 1 ± 13. 4)d, 30. 2% υs. 80. 6%],and the differences were significant(all P=0. 000). In transcatheter procedure group,2 cases (4. 7%)died and biventricular circulation is obtained in all survival cases. In surgery group,5 cases(8. 1%)died. Of the survival cases from surgery group,39 cases(69. 6%)obtained biventricular circulation,3 cases(5. 4%)obtained one and a half ventricular circulation while other 14 cases( 25. 0%) were candidates for biventricular repair. Conclusions Biventricular circulation can be achieved in most PA/IVS or CPS neonates with mild_moderate right ventricular dysplasia. PBPV turns out to be a safe and effective therapy for neonates with CPS while perforation of right ventricular outflow tract remains a nonnegligible complication in transcatheter therapy for PA/IVS.

Outcome and follow-up analysis of transcatheter or surgical therapy for neonates with pulmonary atresia with intact ventricular septum and critical pulmonary stenosis / 中华实用儿科临床杂志

Objective@#To evaluate the safety and effectiveness of transcatheter or surgical procedure for neonates diagnosed with pulmonary atresia with intact ventricular septum (PA/IVS) or critical pulmonary stenosis (CPS) by retrospectively analyzina the clinical data, thus to discuss the clinical strategy decision.@*Methods@#From November 2006 to August 2018, 105 neonates (PA/IVS 51 cases, CPS 54 cases) went through transcatheter or surgical procedure in Guangdong Provincial Cardiovascular Institute (transcatheter procedure 43 cases, surgery 62 cases). All cases manifested mild to moderate right ventricular dysplasia.Transcatheter procedure included pulmonary radio frequency perforation and percutaneous balloon pulmonary valvuloplasty (PBPV). Surgical procedure included reconstruction of right ventricular outflow tract (transannular patch), pulmonary valvotomy and closed transventricular pulmonary valvuloplasty, while Aortic-Pulmonary shunt was performed in certain cases.Average follow-up period was (40.1±36.9) months.Hospitalization and follow-up data were analyzed to evaluate the safety and efficacy of transcatheter and surgical procedure.@*Results@#Operative time, hospital stay, complication rate were lower in transcatheter procedure group than those of surgery group[(107.8±61.6) min vs.(183.3±36.8) min, (18.6±7.9) d vs.(31.1±13.4) d, 30.2% vs.80.6%], and the differences were significant(all P=0.000). In transcatheter procedure group, 2 cases (4.7%) died and biventricular circulation is obtained in all survival cases.In surgery group, 5 cases (8.1%) died.Of the survival cases from surgery group, 39 cases (69.6%) obtained biventricular circulation, 3 cases (5.4%) obtained one and a half ventricular circulation while other 14 cases (25.0%) were candidates for biventricular repair.@*Conclusions@#Biventricular circulation can be achieved in most PA/IVS or CPS neonates with mild-moderate right ventricular dysplasia.PBPV turns out to be a safe and effective therapy for neonates with CPS while perforation of right ventricular outflow tract remains a nonnegligible complication in transcatheter therapy for PA/IVS.

The effectiveness of evidence-based nursing for propranolol treatment of the Intractable infantile hemangiomas / 中国实用护理杂志

Objective To investigate the effecs of evidence-based nursing of the treatment with propranolol forthe intractable infantile hemangiomahemangioma. Methods Dividing the children who were treated with propranolol into experimental groups and matched groups randomly according to the random number table each 42 .The experimental group adopted evidence-based care,according to PICO tool description of the problem and combining the results of theresponsibility nurse′s regular follow-up and assessment to come up with evidence-based problems,seeking for high-level evidences,combining the existing conditions of careand having formulated corresponding care norms,contingency plans for adverse reactions,healthy education card,the operation videos and other measures and they are implemented.The control group adopted the routine care procedure.two groups of effects were determined by the Achauer level 4 classification after 12 months of treatment,and evaluating the condition of occur of blood pressure drop ,slow heart beat ,diarrhea, sleepdisorders, hypoglycemia and other adverse reactions in both groups during the process of treatment. Results there was statistical significance in the difference of two groups′Achauer 4 levels. The numbers of Ⅰ, Ⅱ, Ⅲ, and Ⅳ in the two groups were 3, 7, 20, 12, and 11, 15, 11, 5, respectively (t1=1372, t2=2132, P<0.05). The two groups had a statistically significant difference in blood pressure, heart rate, diarrhea, sleep disorder, and low blood sugar response. The numbers of two groups were 12, 2, 3, 6, 1 and 26, 15, 12, 21, 8 respectively (χ2=6.098-12.464, all P<0.05). Conclusions Evidence-based nursing enhances the treatment effectiveness of theintractable infantile hemangioma with propranolol effectively and has preventing the occur of adverse reactions during the process of treatment.

Congenital heart disease and neurodevelopment in children from the perspective of genetics / 中华实用儿科临床杂志

Children with congenital heart disease (CHD) are at risk of neurodevelopmental disorder (NDD) which can be manifested as a diversity of clinical type.Up to 20％-30％ of CHD children have genetic abnormalities.As an independent risk factor for NDD,genetic abnormalities may predict a poorer neurodevelopmental outcome in these children.Because neurodevelopmental outcomes are closely related to the presence of underlying syndromes or genetic abnormalities,early diagnosis is the key to establish the prognosis of it,which is conducive to provide guidance for the children and their families in early time.In order to draw the attention of pediatric clinicians and CHD families and provide more comprehensive support for those children,this brief review is written for illustrate the relationship between CHD children and their neurodevelopmental outcome from the perspective of genetics.

Prenatal interventional therapy in two cases with critical pulmonary stenosis or pulmonary atresia with intact ventricular septum / 中华儿科杂志

Objectives@#Two cases who underwent fetal pulmonary valvuloplasty (FPV) for pulmonary atresia with intact ventricular septum (PA-IVS) or critical pulmonary stenosis with intact ventricular septum (CPS-IVS) successfully were reported. The aim of the report was to explore the criteria for case selection, the technical essentials of FPV, and the postpartum outcome of the fetus.@*Methods@#One case with PA-IVS and the other with CPS-IVS were enrolled in September 2016 and February 2017 in Guangdong General Hospital, and both cases were diagnosed with severe right ventricular dysplasia and tricuspid regurgitation by fetal echocardiogram. Parameters of right ventricle development and hemodynamics from echocardiography included tricuspid/mitral annulus (TV/MV), right ventricle/left ventricle long-axis (RV/LV), pulmonary/aortic annulus (PV/AV), tricuspid inflow duration/cardiac cycle, degree of tricuspid regurgitation (TR), blood flow direction of arterial duct and ductus venosus. Multidisciplinary team including the maternal-fetal cardiology, pediatric cardiology, cardiac surgery, obstetrics, neonatology and anesthesiology was summoned to discuss the indications and timing of PFV. Two cases underwent ultrasound-guiding trans-abdominal PFV at the 28 weeks of gestational age. Echocardiography was performed to observe the opening and closing of the pulmonary valve, and to evaluate the development of right ventricle and improvement in hemodynamics every 2-4 weeks until delivery.@*Results@#From the technical perspective, pulmonary balloon valvuloplasty was successfully performed in these two cases. The opening of pulmonary valve improved in these two cases at 2-4 weeks after FPV. However, an obvious restenosis was detected in the first case at 5-8 weeks after FPV. In the first case, the echocardiography parameters including TV/MV, RV/LV, PV/AV and tricuspid inflow duration/cardiac cycle increased from 0.56, 0.42, 0.85,0.26 to 0.59, 0.51, 0.87, 0.32 at 5-8 weeks after FPV, respectively. However, the direction of blood flow through the arterial duct was still reverse. In the second case, TV/MV, RV/LV, PV/AV and tricuspid inflow duration/cardiac cycle ratio increased from 0.70, 0.63, 0.91,0.35 to 0.80, 0.80, 0.97, 0.42 at 5-8 weeks after FPV, respectively. The direction of blood flow through the arterial duct changed to bidirectional. Both fetuses were born alive. The first case underwent pulmonary valve commissurotomy and modified Blalock-Taussig shunt on the 8th day after delivery and received follow-up for 6 months. The strategy for the next-step therapy was still pending. The second case underwent transcutaneous pulmonary balloon valvuloplasty on the 19th day after delivery and received follow-up for 3 months. The opening of pulmonary valve improved obviously and the cardiac function was normal in the second case.@*Conclusions@#FPV is safe and effective for fetus during the second and third trimester of pregnancy, and FPV is beneficial for the development of fetal ventricle, valve and large artery. In addition, FPV may help to avoid the postnatal surgery for isolated single ventricle, improve fetal heart failure and prevent fetal death.

Analysis of gene mutation in children with cardiomyopathy / 实用医学杂志

Objective To study the well-related cardiomyopathy genes in children with cadiomyopathy living in south china.Methods 43 childrens with cardiomyopathy admitted to Guangdong General Hospital between January 2015 to March 2017 were enrolled in this study.A standardized protocol for ultra-high coverage nextgeneration sequencing of the well-related cardiomyopathy genes were performed in all patients.A sequencing of Sanger were used to their immediate family members.Results A total of 28 mutations of pathogenic and suspected pathogenic in 23 genes were identified in 21 patients (48.8％).All of the mutations occurred only once.Conclusions Most cases with cardiomyopathy have gene mutations.The sequencing of the well-related cardiomyopathy genes can assist the clinical diagnosis.And many variants which the test detected need to be followed-up in order to gain benefit for the patients and their families.

Design and application of the ISO15189 management information middleware based on LIS / 临床检验杂志

Objective To design the ISO15189 management information middleware based on laboratory information management system (LIS) and evaluate its application.Methods The ISO15189 management information middleware was designed based on LIS and the middleware technology as underlaying platform,and the multifunction management of LIS was implemented by the data warehouse technology and the data cleaning and extraction technology.Results The designed middleware made LIS implement the functions such as data exchange and transmission,data sharing,and data intelligence processing ISO15189 management information across multiple systems.It constructed a data warehouse by extracting,transforming,and loading useful data from multiple profession systems in laboratories,and flexibly presented data to the users by operating multidimensional data set from various aspects.Conclusion The ISO15189 management information middleware based on LIS has high value in the management of ISO15189 accredit,which may make the management work more standard,efficiency,and intelligence.

Study Formation of Ammonion-Magnesium Phosphate Crystals in Urine with Bacteria Growing / 现代检验医学杂志

Objective To study formation of ammonion-magnesium phosphate crystals in urine with bacteria growing and provide guidance for cilinical prevention of urinary calculi.Methods Bacterial culturefluid of Escherichia coli,Proteus mirabilis,Pseudomonas aeruginosa,Klevsiella pneumoniae,Enterococcus in urine was examined directly under the ultrahigh sensitive microscpcope system for ammonion-magnesium phosphate crystasl.The number of ammonion-magnesium phosphate crystasl was measured when the 24th and the 48th hour.Results Ammonion-magnesium phosphate crystasl were observed from the culture fluid without ammonion magnesium phosphate crystasl.The rate of male formation was higher than that of female.Ammonion-magnesium phosphate crystals in culture fluid of Proteus mirabilis was the highest,Pseudomonasaeruginosa was the second,the third was Klebsiella pneumoniae,and there was formed 1 case in 2 ml culturefluid of enterococcus,and 2 cases of formation in 5 ml culturefluid of Escherichia coli.The crystals formed were the most unformed feather crystals,followed by cubic and square cylinders,an d the envelope like crystals were the least.Conclusion Bacteria with urease play a significant role in ammonion-magnesium phosphate crystasl formed,Proteus mirabilis is the main pathlogen.

Clinical features of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome in twin brothers / 临床儿科杂志

Objective To explore the clinical features of mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) syndrome in fratemal twins brothers.Methods The clinical data,the results of laboratory examinations,electroencephalogram (EEG),imaging,and gene detection,and the process of diagnosis and treatment were retrospectively analyzed the fraternal twin brothers with MELAS syndrome.Results The proband,a 7-year-old male,had intermittent headaches,vomit and twitching at onset.He suffered from exercise intolerance,fatigue,accompanied by short stature and hairy.The fasting blood lactic acid level was increased.Multiple video EEG showed the slowdown of background activity.Head MRI showed recurrent lesions with the characteristics of migration and variation.The point mutation rate of mtDNA A3243G was 34.7％.The diagnosis of MELAS was confirmed.At the same time,his fraternal twin brother was screened and found that his point mutation rate of A3243G was 30.0％.Although there was no clinical symptom at that time,he was onset with convulsion after 3 years.Conclusions Gene detection and family screening are helpful for the early diagnosis of MELAS.The mutation rate of A3243G is very high,which can cause an early onset and serious clinical symptoms.

Feasibility of diagnosis of perimembranous ventricular septal defect with right aortic valve prolapse by ul-trasonic echocardiography / 实用医学杂志

Objectives To explore the feasibility ofdiagnosis of Perimembranous Ventricular Septal Defect with Right Aortic Valve Prolapse by ultrasonic echocardiography. Methods 131 VSD patients aged 1 to 22 years, weight 8.0 to 54.0 kg, underwent transthoracic echocardiography (TTE) and left ventricular angiography to show the diameter of VSD and the degree of AVP. Results Among 131 patients, 87 cases were diagnosed as VSD,14 as VSD with slight AVP, 12 as, VSD with middle AVP, and 18 as VSD with severe AVP by ultrasonic echocardiography respectively. After the left ventricular angiography and aortic root angiography , it proved that positive rate of VSD was 44.8%, positive rate of VSD with slight AVP was 42.86%, positive rate of VSD with middle AVP was 58.3%,and positive rate of VSD with severe AVP was 83.3%. Conclusion The transthoracic echocardiography (TTE) contributes to diagnosis of severe degree of AVP,while TTE evaluates the slight degree of AVP incorrectly enough. Left ventricular angiography and aortic root angiography are needed to realize the di-agnosis of AVP.

Evaluation of effects of cluster-based strategies for prevention of the fibrosclerosis complications of patients with systemic scleroderma / 中国实用护理杂志

objective To explore the effect of application of cluster-based strategies on preventing the complication of fibrosclerosis of patients with systemic scleroderma.Methods A total of 59 patients with systemic scleroderma were randomly assigned to the experimental group (34 cases) and the control group (25 cases) during the period of hospitalization in our department.The experimental group took the cluster-based strategies after admission,including a gymnastics,two kinds of respiratory breathing,three kinds of habits,four kinds of protection to prevent the complication of fibrosclerosis.The control group received the conventional care procedures of dermatology.The skin stiffness,joint function,Raynaud's phenomenon and swallowing function were evaluated when patients were admitted and before discharge in two groups.The length of stay between the two groups was also compared.Results The skin stiffness,joint function,Raynaud's phenomenon and swallowing function scored (14.74±1.33),(7.06±0.69),(0.88±0.33),(0.54±0.21) in the experimental group,significantly better than those of the control group,(24.08±1.12),(13.48±0.77),(1.24±0.60),(0.96±0.34),P ＜ 0.01.The length of stay in the experimental group and the control group was (23.65±5.45),(32.00±6.56) days,t=-5.340,P ＜ 0.01.Conclusions Application of cluster-based strategies can be effective against the fibrosclerosis damage of patients with systemic scleroderma and reduce the occurrence of complications.