Objective To study the gene mutation of a Chinese family with Alport syndrome and to perform preimplantation genetic diagnosis before embryo implantation.Methods Next generation sequence analysis was done for checking COL4A3,COL4A4 and COL4A5 genes in the Alport syndrome family members.Array comparative genomic hybridization(CGH) was used to detect the embryos.Results A mutation c.2605G ＞ A was found and identified in COL4A5 gene of all of the Alport syndrome patients in the family,but COL4A3 and COL4A3 genes were normal in all of the detected people.After searching for the mutation database,the mutation c.2605G ＞ A of COL4A5 gene was related to the X-linked dominant Alport syndrome.Three embryos were detected by using the preimplantation genetic diagnosis.Among these embryos,there were two male and one female.One of the male embryos was chromosomal aneuploidy,which was 45,XY,-16 and the other was normal.This normal embryo was implanted,and after 20 weeks the prenatal amniocentesis diagnosis approved that the fetus was normal.Conclusions The mutation of COL4A5 gene (c.2605 G ＞ A) is the cause of Alport syndrome in this family,which indicates that next generation sequence analysis proves to be an accurate and rapid method to detect Alport syndrome disease.Meanwhile array CGH can be used to reduce birth rates as a useful preimplantation genetic diagnosis method.

Objective:To summarize the classification of etiology, age of onset, prognosis of children with convulsion, so as to provide experience guidance for clinicians engaged in pediatric emergency department.Methods:The clinical data of children with convulsions received in the emergency department of Children′s Hospital Affiliated to Kunming Medical University from January 2015 to December 2018 were analyzed retrospectively.Results:During the four-year period, 2 957 children with convulsion were received in the emergency department, accounting for 22.20% of the total number of critically ill children in the observation room of the emergency department, and the ratio of male to female was 1.7∶1.The etiological diagnosis of convulsion in emergency are as follows: febrile convulsion(733 cases, 24.79%), central nervous system infection(477 cases, 16.13%), unexplained convulsion(476 cases, 16.09%), epilepsy(371 cases, 12.55%), benign infantile convulsions with mild gastroenteritis(240 cases, 8.12%). The age of onset: 8.25% were in neonatal period, 33.99% were in infant, 34.87% were in toddler′s age, 12.17% were in preschool age, 7.88% were in school age and 2.84% were in adolescence.Destination statistics: 72.00% were admitted to hospital for further treatment, 13.29% were transferred to neurology clinic, 7.85% to pediatric clinic, 1.66% to rehabilitation clinic, and 0.17% died.Inpatient department: 43.64% were admitted to department of neurology, 17.52% to pediatric intensive care unit, 13.71% to department of neonatology, 12.64% to department of gastroenterology and 2.72% to department of rehabilitation.Conclusion:Febrile convulsion is the main cause of convulsion in children who were received emergency treatment in our hospital.Most of the convulsion cases are from birth to preschool age, and the prognosis is good after active treatment.

Objective: To explore the related factors of myopia among children and adolescents in Yunnan Province, and to predict and evaluate the influencing factors, so as to provide a scientific theoretical basis for the prevention and control of myopia. Methods: From March 9 to 14, 2023, 848 students from 6 primary and secondary schools in Dali and Lijiang of Yunnan Province were selected by multi stage stratified random cluster sampling method for visual acuity detection and questionnaire survey on myopia related factors. Multivariate Logistic regression analysis was used to establish a Nomogram prediction model for the selected influencing factors. Results: The overall myopia rate of the respondents was 68.3%, the myopia rate of boys (63.4%) was lower than that of girls (72.9%), and the myopia rate of primary school students (46.7%) was lower than that of junior high school students (81.1%), and the difference was statistically significant（ χ 2=8.71, 108.07, P <0.05). Daily eye exercises, activities outside the teaching building during recess, having daily sleep time of 7-9 and >9 h, having both parents without myopia were negatively correlated with the occurrence of myopia in children and adolescents in Yunnan Province ( OR=0.64, 0.63, 0.56, 0.28, 0.48, P < 0.05 ). The reading and writing time after school ≥3 h per day and parents unrestricted time to play video games were positively correlated with myopia ( OR=1.94, 1.78, P <0.05). Based on the influencing factors, a Nomogram prediction model was established to quantitatively evaluate the risk of myopia. The results showed that greater risk for myopia was associated with sleep duration, parental history of myopia, and the time spent reading and writing after school every day. Conclusion Both genetic factors and environmental factors are related to myopia in children and adolescents. The prediction model of nomogram is beneficial for screening high risk factors of myopia and taking corresponding prevention and treatment measures.

OBJECTIVETo determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.

METHODSThe karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.

RESULTSThere were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.

CONCLUSIONThe de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.

Abnormalities, Multiple ; diagnosis ; genetics ; Adolescent ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosomes, Human, Pair 2 ; genetics ; Comparative Genomic Hybridization ; methods ; Female ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Microsatellite Repeats ; genetics ; Phenotype ; Syndrome

OBJECTIVETo screen potential mutations of PRRT2 gene in a Chinese family affected with paroxysmal kinesigenic dyskinesia (PKD).

METHODSPolymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to analyze all members of the family.

RESULTSA heterozygous mutation c.649dupC was identified in the PRRT2 gene in all patients, while no similar mutation was found in healthy members from the family.

CONCLUSIONThe c.649dupC mutation of the PRRT2 gene probably underlies the PKD in this family. Prenatal diagnosis can reduce the risk for further birth of affected children for this family.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Dystonia ; genetics ; Female ; Frameshift Mutation ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Molecular Sequence Data ; Nerve Tissue Proteins ; genetics ; Young Adult

OBJECTIVETo detect potential mutation in a Chinese pedigree affected with familial exudative vitreoretinopathy (FEVR).

METHODSClinical data of the pedigree was collected. Coding regions of candidate genes were amplified by PCR and subjected to next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing and segregation analysis.

RESULTSTwo novel heterozygous mutations (c.1695dupC and c.552-563del) were respectively detected in the LRP5 and ZNF408 genes in the proband. Both mutations were inherited from the affected mother. By Sanger sequencing, the c.552-563del mutation was also detected among unaffected members, while the c.1695dupC mutation was only detected in affected members from the pedigree and was not recorded by the HGMD, NCBI, or 1000 genome database. Upon prenatal diagnosis, the fetus was found to carry the same mutations.

CONCLUSIONCombined NGS and Sanger sequencing not only can reduce the time required for diagnosis but also enable accurate prenatal diagnosis for FEVR.

Child, Preschool ; DNA-Binding Proteins ; genetics ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Low Density Lipoprotein Receptor-Related Protein-5 ; genetics ; Mutation ; Pedigree ; Prenatal Diagnosis ; Retinal Diseases ; genetics ; Transcription Factors ; genetics

Objective:To explore the application value of two-dimensional speckle tracking imaging (2D-STI) in evaluating diaphragm function, and to compare the ability of 2D-STI and conventional diaphragm ultrasonography in diagnosing diaphragmatic dysfunction and evaluating disease severity in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD).Methods:A total of 58 AECOPD patients admitted to the First Affiliated Hospital of Xi′an Jiaotong University from January to October 2021 were retrospectively enrolled as AECOPD group, and 34 healthy subjects were recruited as control group during the same period. Repeatability test of diaphragmatic 2D-STI was performed. According to modified Medical Research Council (mMRC) dyspnea scores system and COPD Assessment Test (CAT), mMRC 0-1 and CAT<10 was classified as group A, mMRC≥2 and CAT≥10 was classified as group B. The baseline characteristics, conventional diaphragm ultrasonography parameters(thickening fraction and excursion) and 2D-STI parameters (longitudinal and radial strains) were compared between the AECOPD group and the control group, and the Spearman correlation between parameters of AECOPD group and forced expiratory volume in one second (FEV1) was analyzed. The differences of these parameters between group A and B were also compared. The ROC curve of conventional diaphragm ultrasonography parameters and 2D-STI parameters was plotted to differentiate group A from group B, and the diagnostic efficacy was evaluated.Results:Great intra- and inter-observer reproducibility was found for all diaphragmatic 2D-STI parameters, with ICCs above 0.80 for all measurements. The control group and the AECOPD group did not differ in age, sex and body mass index( P>0.05), whereas there were significant differences in smoking history, lung function, bilateral thickening fraction, excursion, longitudinal and radial strains( P<0.05). Compared with control group, patients in group A had a significant increase in diaphragm thickness ( P<0.05), while there was no significant difference in that between group B and control group ( P>0.05). The bilateral longitudinal strains, radial strains and thickening fraction of diaphragm were linearly correlated with FEV1 (right side rs=0.828, 0.794, 0.843, respectively; all P<0.001; left side rs=0.757, 0.704, 0.752, respectively; all P<0.001 ), while the correlation between excursion and FEV1 was not significant(right side rs=0.247, left side rs=0.253; all P>0.05). There were significant differences in bilateral longitudinal strains, radial strains and thickening fraction between group A and group B(all P<0.05), whereas there was no significant difference in excursion between the two groups ( P>0.05). ROC analysis showed bilateral longitudinal and radial strains had higher accuracy in distinguishing group A from group B than thickening fraction and excursion(right side AUCs 0.90, 0.84, 0.78 and 0.62, respectively; left side AUCs 0.85, 0.83, 0.77 and 0.62, respectively). Conclusions:2D-STI is a real-time noninvasive technique for diaphragm function assessment, which has high clinical value. Compared with conventional ultrasonography, 2D-STI shows more accuracy and effectiveness in diagnosing diaphragmatic dysfunction and evaluating disease severity of patients with AECOPD.