Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The results of WES showed that the proband has harbored compound heterozygous variants of the DIS3L2 gene, namely c.2109delC and c.1829.c.1830insC, which were respectively inherited from her mother and father. The results were confirmed by Sanger sequencing. Based on the ACMG guidelines, the two novel variants were both predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The compound heterozygous variants of the DIS3L2 gene probably underlay the Perlman syndrome in this patient. Above finding has enriched the spectrum of DIS3L2 gene mutations.

Music therapy for alleviating cognitive dysfunction in early stroke patients / 中华物理医学与康复杂志

Objective To investigate the effects of music therapy in treating cognitive dysfunction in early stroke patients. Methods Forty patients who had suffered a stroke in the previous four weeks were randomly di-vided into two groups of 20. One received music therapy as part of their cognitive training ( observation group) , and the other did not (control group). Before and after 6 weeks of treatment, cognitive functioning was evaluated using the second Chinese edition of Loewenstein's occupational therapy cognitive assessment (LOTCA). The patients' a-bility in the activities of daily living was also evaluated using the modified Barthel index (MBI). Results After treatment, the total LOTCA and MBI scores in both groups were significantly higher than before. Both LOTCA and MBI scores in the observation group were significantly higher than in the control group, and there were also signifi-cant differences between the observation and control groups on all of the LOTCA sub-items except spatial percep-tion. Conclusions Music therapy can improve the effects of rehabilitation on cognition and the ADL ability of early stroke patients.