Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations / 中华医学杂志(英文版)

BACKGROUND@#Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations.@*METHODS@#Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School of Medicine. Mutations were screened by whole-exome sequencing. In addition, clinical features such as AAO, onset site and disease duration were extracted and compared between JALS patients carrying FUS and SPTLC1 mutations through a literature review.@*RESULTS@#A novel and de novo SPTLC1 mutation (c.58G>A, p.A20T) was identified in a sporadic patient. Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective SPTLC1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with SPTLC1 mutations had an earlier AAO (7.9 ± 4.6 years vs. 18.1 ± 3.9 years, P  < 0.01), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P  < 0.01), and no onset of bulbar.@*CONCLUSION@#Our findings expand the genetic and phenotypic spectrum of JALS and help to better understand the genotype-phenotype correlation of JALS.

Current status of smoking and passive smoking among aged 45 to 65 years old females in five cities of China / 中华流行病学杂志

<p><b>OBJECTIVE</b>To investigate the current status of smoking and passive smoking among Chinese females to provide evidence for related strategy development.</p><p><b>METHODS</b>Data from 32 720 women aged 45-65 years old who participated in the 2008 to 2010 Chinese Multi-center Women Breast Cancer Screening Project, were used to analyze the prevalence rates of smoking/heavy smoking, daily smoking, smoking cessation, successful smoking cessation, passive smoking, etc.</p><p><b>RESULTS</b>A total of 913 females, accounted for 2.8% of all the women in the study, had reported the history of smoking. There were significant differences seen regarding the prevalence rates of smoking in different regions (Beijing, 2.8%; Tianjin, 5.9%; Nanchang, 1.7%; Feicheng, 0.9%; Shenyang, 1.8%). The prevalence rates of current smoking, daily smoking, and heavy smoking were 1.8%, 1.0% and 0.2%, respectively. The prevalence rates of smoking and current smoking increased with age but not the prevalence rates of daily smoking and heavy smoking. Among the smokers, the median initiation age of smoking, the median daily cigarette per day, and median year of smoking were 30 years old, 10 cigarette, and 16 years, respectively. And the prevalence rates of smoking cessation and successful smoking cessation were 19.1% and 8.2%. The prevalence rate of passive smoking was 45.7% (12 730/27 874). After combing the number of smokers and the number of passive smokers, the total exposure rate to tobacco was 41.8% (13 670/32 720).</p><p><b>CONCLUSION</b>There was a relatively low level of smoking among Chinese females, so as the rate of smoking cessation. However, passive smoking presented a relatively high level among Chinese females.</p>

Development and Evaluation of the Scale for Assessing the Report Quality of Clinical Trials / 药物流行病学杂志

Objective:To develop the instrument for the evaluation of the report quality of clinical trials with the modified Delphi method in combination with panel discussions, and assess its validity and reliability. Method: For the development of the instrument, the modified Delphi method in combination with a panel discussion was applied. The consulting panel included pharmacologists, clinical doctors, epidemiologists, statisticians and editors of journal. 30 reports for the therapy of hypertension published in 2000 were selected for the estimation of the instrument of the validity and reliability. The interclass correlation coefficient (ICC) was used to test the reliability. The CONSORT statement was used as a control, and a Kendall correlation was worked out to estimate the validity. Result:A total of 10 specialists took part in the consultation. During the first round of consultation, the expert harmonious coefficient (W) reached to 0. 505 and 19 items were identified. A total of 100 scores were distributed to the 19 items in the second round, and finally the scale was completed. After scoring the 30 reports on hypertension therapy by two readers independently, the interclass correlation coefficients (ICC) of the total score were 0.921,and 0.987 in the introduction part, 0.875 in materials and methods, 0.902 in results, and 0.966 in the discussion and others, P