ABSTRACT
The use of whole exome sequencing (WES) for the detection of disease-causing variants of genetic diseases and for non-invasive prenatal screening (NIPS) of fetal aneuploidies are two major clinical applications of next generation sequencing (NGS). This article has summarized the official documents developed and updated by the American College of Medical Genetics and Genomics (ACMG) on governing WES and NIPS. These include the development of expert consensus policies and position statements on an ongoing basis to guide clinical application of NGS technology and variant analysis, establish evidence-based practical resources, as well as standards and guidelines to govern diagnosis and screening. These ACMG documents are valuable references to Chinese geneticists, but direct adoption of these standards and guidelines may not be practical due to the differences in disease-associated variant frequencies in Chinese population, socioeconomic status, and medical practice between the two countries. It is hoped that this review could facilitate the development of NGS and NIPS standards and guidelines that are consistent with international standards and concordant with medical genetics practice in China to provide high-quality, efficient and safe clinical services for patients and their families with genetic diseases.
Subject(s)
Female , Humans , Pregnancy , China , Consensus , Genomics , High-Throughput Nucleotide Sequencing , Technology , United StatesABSTRACT
Objective To analyze the clinical characteristics and risk factors for adult community-acquired pneumonia (CAP) caused by Gram-negative bacilli in Tangshan, and provide reference for the early identification of Gram-negative bac?teria CAP and the clinical use of antibiotics. Methods Data of retrospective general information, physical examination, aux?iliary examination and pathogen were collected in patients with CAP in respiratory department from 6 hospitals in Tangshan between October 2011 to September 2012. According to the above data, the prognosis of patients with the team score (PORT) was calculated. The sputum samples were isolated for pathogen identification. Univariate logistic regression analysis and multivariate logistic regression analysis were performed for risk factors of Gram-negative bacilli. Results A total of 195 strains were isolated from 172 (32.45%) patients in 530 patients with CAP. There were 154 strains of Gram-negative ba?cilli (78.97%) and 41 strains of Gram-positive bacteria (21.03%) in 195 bacterial strains. Univariate logistic regression anal?ysis showed the possible risk factors of Gram-negative bacilli in patients with CAP including age≥65 years old, using antibi?otics before hospitalization, basic diseases, cerebrovascular disease, malnutrion, white blood cell abnormal, neutrophil count17.1μmol/L and blood urea nitrogen>7.1 mmol/L. Multivariate logistic regression analysis showed the independent risk factors of Gram-negative bacilli in patients with CAP including us?ing antibiotics before hospitalization (OR=2.327, 95%CI 1.453-3.725), white blood cell abnormal (OR=2.904, 95%CI 1.879-4.490), PORT classification≥Ⅲ(OR=3.839, 95%CI 2.427-6.071), and blood urea nitrogen elevated (OR=4.133, 95%CI 2.585-6.606). Conclusion Clinical empirical anti-infection treatment should consider the risk factors including using antibiotics before hospitalization, white blood cell abnormal, PORT classification≥Ⅲ and blood urea nitrogen>7.1 mmol/L in patients with susceptible to Gram-negative bacteria infection.
ABSTRACT
<p><b>OBJECTIVE</b>To observe the dynamic changes of pulmonary function and inhaled corticosteroid (ICS) doses during subcutaneous immunotherapy (SCIT) with standardized house dust mite vaccine (Alutard) in children with mild to moderate allergic asthma.</p><p><b>METHODS</b>One hundred children with mild to moderate allergic asthma were randomized into SCIT group and control group for treatment with SCIT plus ICS and with ICS only, respectively. The pulmonary function and ICS doses were evaluated before and every 3 months during the 2 years of treatment.</p><p><b>RESULTS</b>No significant difference was found in the pulmonary functions between the two groups before the treatment (P>0.05). After 3 months of treatment, FEV1% and PEF% in SCIT group were significantly higher than those in the control group [(103.19∓2.07)% vs (97.52∓1.92)%, and (105.56∓3.21)% vs (96.35∓2.7)%, respectively]; at 21 months, FEF50% and FEF25% were significantly higher in SCIT group than in the control group [(105.69∓3.29)% vs (94.61∓3.12)%, and (106.60∓3.71)% vs (92.92∓3.31)%, respectively]. A significant difference was found in ICS doses between SCIT group and the control group after 9 months of treatment (147.14∓6.41 vs 170∓4.95 µg/day, P<0.05), and the difference increased as the treatment prolonged.</p><p><b>CONCLUSION</b>SCIT combined with ICS can improve the ventilation function of the large airways early after the commencement of treatment, but its effect on small airways can be delayed. SCIT for 2 years shows a good therapeutic effect and can reduce the doses of ICS in children with mild to moderate allergic asthma.</p>