| 1 | Next-generation sequencing:toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure显示文摘A large proportion of patients with idiopathic spermatogenic failure(SPGF;oligozoospermia or nonobstructive azoospermia[NOA])do not receive a diagnosis despite an extensive diagnostic workup.Recent evidence has shown that the etiology remains undefined in up to 75%of these patients.A number of genes involved in germ-cell proliferation,spermatocyte meiotic divisions,and spermatid development have been called into play in the pathogenesis of idiopathic oligozoospermia or NOA.However,this evidence mainly comes from case reports.Therefore,this study was undertaken to identify the molecular causes of SPGF.To accomplish this,15 genes(USP9Y,NR5A1,KLHL10,ZMYND15,PLK4,TEX15,TEX11,MEIOB,SOHLH1,HSF2,SYCP3,TAF4B,NANOS1,SYCE1,and RHOXF2)involved in idiopathic SPGF were simultaneously analyzed in a cohort of 25 patients with idiopathic oligozoospermia or NOA,accurately selected after a thorough diagnostic workup.After next-generation sequencing(NGS)analysis,we identified the presence of rare variants in the NR5A1 and TEX11 genes with a pathogenic role in 3/25(12.0%)patients.Seventeen other different variants were identified,and among them,13 have never been reported before.Eleven out of 17 variants were likely pathogenic and deserve functional or segregation studies.The genes most frequently mutated were MEIOB,followed by USP9Y,KLHL10,NR5A1,and SOHLH1.No alterations were found in the SYCP3,TAF4B,NANOS1,SYCE1,or RH0XF2 genes.In conclusion,NGS technology,by screening a specific custom-made panel of genes,could help increase the diagnostic rate in patients with idiopathic oligozoospermia or NOA. | Rossella Cannarella Rosita A Condorelli Stefano Paolacci Federica Barbagallo Giulia Guerri Matteo Bertelli Sandro La Vignera Aldo E Calogero | 2021 | Asian Journal of Andrology2021，23，1： | 2 |
| 2 | COVID-19 vaccine candidates and vaccine development platforms available worldwide显示文摘The pandemic caused by the worldwide spread of the coronavirus,which first appeared in 2019,has been named coronavirus disease 19(COVID-19).More than 4.5 million deaths have been recorded due to the pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),according to the World Health Organization.COVID-19 Dashboard in September 2021.Apart from the wildtype,other variations have been successfully transmitted early in the outbreak although they were not discovered until March 2020.Modifications in the SARS-CoV-2 genetic material,such as mutation and recombination,have the ability to modify the viral life span,along with transitivity,cellular tropism,and symptom severity.Several processes are involved in introducing novel vaccines to the population,including vaccine manufacturing,preclinical studies,Food and Drug Administration permission or certification,processing,and marketing.COVID-19 vaccine candidates have been developed by a number of public and private groups employing a variety of strategies,such as RNA,DNA,protein,and viral vectored vaccines.This comprehensive review,which included the most subsequent evidence on unique features of SARS-CoV-2 and the associated morbidity and mortality,was carried out using a systematic search of recent online databases in order to generate useful knowledge about the COVID-19 updated versions and their consequences on the disease symptoms and vaccine development. | Nilgun Duman Zahraa ALzaidi Busra Aynekin Duygu Taskin Busra Demirors Abdulbaki Yildirim Izem Olcay Sahin Faik Bilgili Eda Tahir Turanli Tommaso Beccari Matteo Bertelli Munis Dundar | 2021 | Journal of Pharmaceutical Analysis2021，11，6： | 0 |
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