Novel variants in DNAH6 cause male infertility associated with multiple morphological abnormalities of the sperm flagella (MMAF) and ICSI outcomes / 亚洲男科学杂志(英文版)

Variations in the dynein axonemal heavy chain gene, dynein axonemal heavy chain 6 (DNAH6), lead to multiple morphological abnormalities of the flagella. Recent studies have reported that these deficiencies may result in sperm head deformation. However, whether DNAH6 is also involved in human acrosome biogenesis remains unknown. The purpose of this study was to investigate DNAH6 gene variants and their potential functions in the formation of defective sperm heads and flagella. Whole-exome sequencing was performed on a cohort of 375 patients with asthenoteratozoospermia from the First Affiliated Hospital of Anhui Medical University (Hefei, China). Hematoxylin and eosin staining, scanning electron microscopy, and transmission electron microscopy were performed to analyze the sperm morphology and ultrastructure. Immunofluorescence staining and Western blot analysis were conducted to examine the effects of genetic variants. We identified three novel deleterious variants in DNAH6 among three unrelated families. The absence of inner dynein arms and radial spokes was observed in the sperm of patients with DNAH6 variants. Additionally, deficiencies in the acrosome, abnormal chromatin compaction, and vacuole-containing sperm heads were observed in these patients with DNAH6 variants. The decreased levels of the component proteins in these defective structures were further confirmed in sperm from patients with DNAH6 variants using Western blot. After intracytoplasmic sperm injection (ICSI) treatment, the partner of one patient with a DNAH6 variant achieved successful pregnancy. Overall, novel variants in DNAH6 genes that contribute to defects in the sperm head and flagella were identified, and the findings indicated ICSI as an effective clinical treatment for such patients.

Analysis of the epidemiological characteristics of new occupational pneumoconiosis in Jiangxi Province, 2010-2019 / 中国职业医学

OBJECTIVE: To analyze the epidemiological characteristics of new occupational pneumoconiosis(hereinafter referred to as pneumoconiosis) in Jiangxi Province from 2010 to 2019. METHODS: The data of new pneumoconiosis cases in Jiangxi Province from 2010 to 2019 were collected through the Occupational Disease and Occupational Disease Health Information Monitoring Subsystem in the China Disease Prevention and Control Information System, and a retrospective analysis was conducted. RESULTS: From 2010 to 2019, there were 4 450 new cases of pneumoconiosis in Jiangxi Province. Among these cases, the main disease types were coal workers′ pneumoconiosis and silicosis, accounting for 98.5%. The number of new cases of pneumoconiosis showed a decreasing trend with the increase of years for the last ten years(P<0.05). The median age and the 0 th-100 th percentile [M(P_0-P_(100))] of new-onset pneumoconiosis diagnosis was 56.6(34.0-97.0) years old. The service length M(P_0-P_(100)) with dust-exposure was 12.0(1.0-48.0) years. The main industry of the new pneumoconiosis cases was concentrated in the coal mining and washing industry(63.4%). The distribution of economic types of enterprises with new pneumoconiosis cases was mainly state-owned enterprises(70.0%). The enterprise scale was medium-sized and small enterprises(65.9% in total). The types of work were mainly coal blenders, rock drillers, and coal miners, accounting for 56.5%. CONCLUSION: The incidence of occupational pneumoconiosis in Jiangxi Province is not optimistic. It is necessary to strengthen the prevention and control of occupational diseases on workers exposed to dust in key industries, enterprises and types of work.

Investigation on the current status of silica dust hazard in workplaces in Jiangxi Province / 中国职业医学

OBJECTIVE: To analyze the current status of silica dust hazard in workplaces of Jiangxi Province. METHODS: The level of silica dust in the air of workplaces, occupational health examination of the dust-exposed workers and diagnosis of occupational disease in 1 557 enterprises in Jiangxi Province were investigated and analyzed. RESULTS: The 1 557 enterprises were included in eight industries, and the main types of enterprises were non-coal mining, ceramic products manufacturing and stone processing industry(a total of 85.16%). There were 4 029 jobs/positions that were involved in exposure to silica dust in these workplaces. Among them, the exposure concentration of time weighted average(C_(TWA)) of total dust and respirable dust exceeded 21.52% and 20.55%, respectively. The posts where the total dust and respirable dust that exceed the standard were found in the quartz sand processing industry, non-ferrous metal smelting industry and stone processing industry, that were the top three among the eight industries(all P<0.01). Among the 828 posts with C_(TWA) of respiratory dust exceeding the standard, the C_(TWA) exceeding rate of mild-, moderate-and high-hazardous jobs were 3.87%(156/4 029), 1.66%(67/4 029) and 15.02%(605/4 029), respectively. Among 23 643 dust-exposed workers, the detection rates of occupational contraindications and suspected silicosis were 2.06% and 1.51%, and the prevalence of silicosis was 1.21%. CONCLUSION: Silica dust hazard in workplaces of quartz sand processing industry, non-ferrous metal smelting industry and stone processing industry are serious in Jiangxi Province. The supervision and management of occupational health should be further strengthened to guarantee the occupational health of workers.

The effect of Gynostemma pentaphyllum (GP) on plasma lipoprotein metabolism and lipoperoxidation lipoprotein in the experimental hyperglycemia rats / 中国应用生理学杂志

<p><b>AIM</b>To study the regulation mechanism of GP on plasma lipoprotein metabolism and To explore its mechanism of anti-lipoperoxidation in the experimental hyperglycemia rats.</p><p><b>METHODS</b>The rats were raised with high fat diet for six weeks,and the model of hyperglycemia was then established. After that, those rats were treated with high or low dose of GP and xuezhikang as a masculine comparison for four weeks. Then, those rat were executed, and detected the plasma TC, TG, LDL-C, HDL-C, GSH-Px, at the same time the SOD, CAT and MDA concentration also be mensurated.</p><p><b>RESULTS</b>The results showed that high and low dose of GP could decrease the concentration of serum LDL-C, cholesterol and triglyceride remarkably and raise the concentration of HDL-C. The activity of GSH-Px, SOD and CAT in GP groups were promoted and the level of MDA was decreased distinctly.</p><p><b>CONCLUSION</b>The GP can therapy the abnormity of serum lipid and has obviously anti-lipoperoxidation affection.</p>