OBJECTIVE: To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the FOXG1 gene. METHODS: Clinical manifestation of the child was analyzed. Peripheral blood sample of the patient was subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis. RESULTS: The male infant has developed feeding difficulty, poor sucking, lower limb tremor, and frontal bruising 8 days after birth. Magnetic resonance imaging revealed significant enlargement of bilateral ventricles and corpus callosum dysplasia. Chromosomal analysis revealed a karyotype of 46,XY,del(14)(q12q13.1), and SNP-array confirmed that there was a 9.6 Mb deletion in 14q11.2q13.1, which encompassed the FOXG1 gene. CONCLUSION For patients with brain development abnormalities, dyskinesia, cognitive impairment, speech disorder and other manifestations, copy number variation of the FOXG1 gene should be excluded. SNP-array should be carried out as early as possible to attain the diagnosis.
Child ; Chromosome Deletion ; DNA Copy Number Variations ; Forkhead Transcription Factors/genetics* ; Heterozygote ; Humans ; Infant ; Karyotyping ; Male ; Nerve Tissue Proteins/genetics* ; Polymorphism, Single Nucleotide

Objective:To detect and analyze the gene variation types of 64 unrelated pedigrees affected with autosomal dominant polycystic kidney disease (ADPKD), and explore the detection efficiency of multiple gene analysis techniques and variation characteristics.Methods:It was a cross-sectional study. The clinical data of 64 pedigrees with ADPKD from Nephrology Department or Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from December 2017 to August 2020 were retrospectively analyzed. The blood samples of probands and other family members were collected. Genetic analysis was carried out by next generation sequencing, and suspected mutations were verified by multiplex ligation-dependent probe amplification, or long-range PCR combined with Sanger sequencing. Prenatal diagnosis for high-risk fetuses was performed by fetal villi or amniotic fluid cells after genotyping without maternal genomic DNA contamination.Results:Among detected 64 pedigrees, 57 pedigrees (89.06%) had genetic variants in PKD1/PKD2. A total of 49 pathogenic/likely pathogenic variants in PKD1/PKD2 were identified in 51 pedigrees (79.69%), including 14 nonsense variants (28.57%), 14 frameshift variants (28.57%), 11 missense variants (22.45%), 5 splicing variants (10.20%) and 5 deletion variants (10.20%). Of these variants, 87.76% (43/49) were in PKD1 and 12.24% (6/49) were in PKD2. Totally, 14 novel variants in PKD1/ PKD2 were identified, including 7 frameshift variants, 3 splicing variants, 2 nonsense variants, 1 deletion variant and 1 missense variant, of which 11 variants were in PKD1 and 3 variants were in PKD2. Twenty high-risk fetuses from 17 pedigrees received prenatal diagnosis, in whom 6 fetuses had PKD1 variation, and other 14 fetuses had no PKD1/ PKD2-genetic variation. Conclusions:The combination of next-generation sequencing, multiplex ligation-dependent probe amplification, and long-range PCR combined with Sanger sequencing can be helpful for rapid, efficient and accurate genetic diagnosis of ADPKD pedigrees. Point mutations are the most common types in PKD1/PKD2. Fourteen novel variants in PKD1/PKD2 extend its pathogenic variant spectrum and can provide basis for genetic counseling and prenatal diagnosis of ADPKD pedigrees.

Objective Using event-related potentials(ERPs),to study the effect and mechanism of negative emotion accumulation hepatic insufficiency on working memory in normal people.Methods Fifty subjects in each of the emotionally stable group and emotionally unstable group were given two load tasks(0-back and 1-back)in the N-back paradigm,the reaction time and correct rate were recorded,and the ERPs components N200 and P300 were detected.The latency and amplitude of P300 were analyzed statistically.Results ①Compared with the emotionally stable group,the emotionally unstable group had a longer reaction time(P<0.05).②Compared with the emotionally stable group,the subjects in the emotionally unstable group had prolonged N200 latency,decreased P300 amplitude significantly(P<0.05),and P300 latency had a tendency to extend(P<0.1).Conclusion Long-term accumulation of negative emotions and liver failure in normal people have the performance of decreased working memory,which may be related to the reduction of attention resource allocation and the impairment of cognitive processing function.

【Objective:】 To study the application and effect of peer education mode in the nursing of patients with urinary tumor, and explore the ways to improve the quality of clinical care and the humanistic significance of this mode in clinical nursing. 【Methods:】 84 patients with urological tumors who received surgical treatment in urology department of a third-class hospital from March 2021 to December 2021 were randomly divided into the control group and the experimental group, with 42 patients in each group. The subjects in control group adopted routine intervention mode.The subjects in experimental group integrated the peer education program into the routine nursing mode.SAS and SDS scales were used to evaluate patients’ state of anxiety and depression, and the degree of nursing satisfaction. 【Results:】 The scores of SAS and SDS in the experimental group were significantly lower than that of the experimental group before intervention and the control group after intervention (P<0.05).The number of very satisfied, moderately satisfied and dissatisfied cases in the control group was 12, 29 and 1 respectively, and in the experimental group was 19, 23 and 0 respectively. The difference was statistically significant (P<0.05). 【Conclusion:】 Adopting peer education with humanistic care significance can effectively alleviate patients’ preoperative anxiety, depression and other adverse mental state, reduce preoperative stress, and provide a new way for nursing quality.