OBJECTIVETo explore the clinical value of the neonatal hearing combined with deafness gene screening.METHODSFrom February 2014 to August 2015, 1933 newborns were included in the study. We analyzed the effects of combined screening of hearing and deafness gene.RESULTSAmong all the 1933 neonates, 71.34% (1379/1933) passed and 28.66% (554/1933) failed the initial hearing screening.The hearing impairment rate was 4.14‰ (8/1933). Genetic screening mutation rate was counted. GJB2 mutation rate was 28.97‰ (56/1933). SLC26A4 mutation rate was 13.97‰ (27/1933). GJB3 mutation rate was 6.21‰ (12/1933). Mitochondrial 12 S rRNA gene mutation rate was 1.03‰ (2/1933). 1 case of 235 delc homozygous mutation did not pass the initial hearing screening and lost to follow-up rescreening. 2 cases of 12 S rRNA 1555A>G homogeneous mutations passed early hearing screening. 8 cases of auditory handicaps were all normal.CONCLUSIONDeafness gene screening can make up for the deficiencies of the universal newborn hearing screening. Joint use of both of them should complement each other and play the biggest role.

OBJECTIVE: To explore the genetic basis for a child featuring delayed intellectual development. METHODS: The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents. RESULTS: No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8. CONCLUSION The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.
Child ; Chromosome Deletion ; Chromosomes, Human, Pair 18 ; genetics ; DNA Copy Number Variations ; Developmental Disabilities ; genetics ; Facies ; Humans ; Hyperventilation ; genetics ; Intellectual Disability ; genetics ; Phenotype ; Transcription Factor 4 ; genetics

MicroRNAs are non-coding small RNAs that participate in the regulation of post transcriptional gene expression.MicroRNAs play the roles of inhibiting cancer or promoting cancer in different tumors.MicroRNA-373 is one of the members of the microRNA-520/373 family,which is involved in cancer anoxic response and DNA damage repair.MicroRNA-373 is abnormal expressed in breast cancer,glioma,lung cancer,prostate cancer and other tumors,which may play an important role in tumor development process,especially in tumor invasion and migration.

Objective    To investigate the clinical manifestations of patients with cardiac myxoma and the factors affecting the occurrence of embolic events. Methods     A retrospective study of 38 patients with cardiac myxoma diagnosed and surgically removed from January 2010 to December 2017 was performed. There were 11 males and 27 females at age of 32-75 (50.00±16.12) years. The patients were divided into a non-embolized group and an embolized group. The clinical manifestations of the patients were summarized and the factors leading to embolism were analyzed. Rseults    Of the 26 patients in the non-embolized group, 22 patients (84.62%) had dyspnea, 14 patients (53.85%) had palpitations, 4 patients (15.38%) had angina pectoris, and 1 patient (3.85%) had heart failure. Of the 12 patients in the embolized group, 4 patients (33.33%) had dyspnea, 3 patients (25%) had palpitations, and 1 patient (8.33%) had angina pectoris. The mean diameter of the non-embolized group was 5.71±1.63 cm, and the maximum diameter of the tumor in the embolized group was 4.52±1.88 cm. There was no significant difference between the maximum diameter of the tumor in the embolized group and the maximum diameter of the non-embolized group (P>0.05). Atrial fibrillation occurred in 2 patients in the non-embolized group before operation. Atrial fibrillation occurred in 5 patients in the embolized group. Atrial fibrillation was more likely to occur in the embolized group (P<0.05). Conclusion     Atrial fibrillation in the patients with cardiac myxoma is closely related to embolic events. The size of myxoma is not related to the occurrence of embolic events.

Objective     To evaluate efficacy of amiodarone in the prevention of atrial fibrillation after coronary artery bypass grafting. Methods     CBM (from January 1978 to August 2017), CNKI (from January 1987 to August 2017), VIP (from January 1989 to August 2017), Wanfang (from January 1998 to August 2017) and PubMed (from January 1989 to August 2017) databases were searched. The articles were selected based on the inclusion and exclusion criteria. Quality of articles was assessed by improved Jadad scale. Statistical analysis was performed using RevMan 5.3. Results     There were 19 articles meeting inclusion criteria including 2 817 patients and all were randomized controlled trial (RCT). There were 16 articles with high quality and 3 articles with low quality by improved Jadad scale. Compared with the placebo, amiodarone had a significant effect on reducing the incidence of atrial fibrillation after coronary artery bypass grafting (RR=0.37, 95% CI 0.28 to 0.50, P<0.000 01) and different administration models and time of amiodarone had effect on the atrial fibrillation after aterial bypass grafting (P<0.05). Conclusion    Compared with the placebo, amiodarone is effective in reducing the incidence of atrial fibrillation after coronary artery bypass grafting.