Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for two Chinese pedigrees affected with Coffin-Siris syndrome (CSS).@*METHODS@#Whole exome sequencing (WES) was carried out for the probands. Candidate variants were verified by Sanger sequencing of the probands and their family members.@*RESULTS@#The two probands were respectively found to harbor a heterozygous c.5467delG (p.Gly1823fs) variant and a heterozygous c.5584delA (p.Lys1862fs) variant of the ARID1B gene, which were both of de novo in origin and unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PS2+PM2).@*CONCLUSION@#The c.5467delG (p.Gly1823fs) and c.5545delA (p.Lys1849fs) variants of the ARID1B genes probably underlay the CSS in the two probands. Above results have enabled genetic counselling and prenatal diagnosis for the pedigrees.

Nursing intervention based on domiciliary oxygen therapy tracking tables quantitative classification for elderly patients with stable chronic obstructive pulmonary disease / 中华护理杂志

Objective To explore the effects of nursing intervention based on domiciliary oxygen therapy tracking tables (DOTT) quantitative classification on domiciliary oxygen in elderly patients with stable chronic obstructive pulmonary disease (COPD).Methods Forty-two cases of elderly patients with stable COPD treated by domiciliary oxygen therapy from January 2015 to March 2015 were selected as the experimental group,and were given bilateral nasal catheter domiciliary oxygen therapy,and were provided domiciliary oxygen therapy management,nursing education and intervention according to results of family oxygen therapy compliance,symptom identification and oxygen safety,and family oxygen therapy confidence evaluated by family oxygen therapy tracking table.Other 30 cases of patients with stable COPD treated by bilateral nasal catheter domiciliary oxygen therapy and routine nursing during the same period of time were selected as the control group.Both groups were provided nursing care for at least 6 months.Nursing adherence,acute episode,patient satisfaction,and quality of life score before and after nursing of two groups were compared.Results Compared with the control group,nursing adherence and patient satisfaction after 6 months in the experimental group were higher,while rate of patients with acute episodes ≥ 2 times in the experimental group was lower (P＜0.05).Compared with that before nursing intervention,quality of life scores of two groups after nursing intervention were lower(P＜0.05).Compared with the control group,quality of life scores of the experimental group were all decreased (P＜0.05).Conclusion Nursing intervention based on domiciliary oxygen therapy tracking tables quantitative classification can effectively reduce the incidence of acute episodes,improve patient's nursing compliance,patient satisfaction,and quality of life.

Quality of abstracts for randomised controlled trials published in Journal of Clinical Anesthesiology based on CONSORT for Abstracts / 临床麻醉学杂志

Objective To assess the quality of randomized controlled trials(RCT)abstracts published in Journal of Clinical Anesthesiology by CONSORT for Abstracts.Methods Articles invol-ving human RCTs published from 2012 to 2013 were reviewed and searched through WanFang Med Online.Trials involving animal experiments,in vitro,RCTs without abstract,and meta-analyses were excluded.According to the CONSORT checklists for abstracts,the quality of abstracts for RCT were assessed.Results In total,392 RCT abstracts were analysed.The median word counts of ab-stracts was 364 (IQR 306-444),sample size was 60 (IQR 40-80).Almost all abstracts provided an appropriate description of conclusions (100%), numbers randomized (99.0%) and objective (99.0%).The majority of abstracts described interventions (94.6%)and participants (82.4%).Re-quirements present in less than 50% of the abstracts were details regarding trial design (46.2%)and harms (48.7%).The descriptions of randomization (13.3%),blinding (1.8%),methods-outcome (3.6%)and results-outcome (9.7%)were very low.Moreover,title,recruitment and numbers ana-lysed were not reported.Conclusion The quality of RCT abstracts and adherence to the CONSORT checklist for abstracts remains poor,and the CONSORT for Abstracts should be endorsed to improve the quality of RCT abstracts as early as possible.