Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process

Autor: Mona Mahfood, Rania Harati, Jihen Chouchen, Abdullah Al Mutery, Walaa Kamal Eddine Ahmad Mohamed, Abdelaziz Tlili

Publikováno v: Saudi Journal of Biological Sciences
Saudi Journal of Biological Sciences, Vol 28, Iss 8, Pp 4421-4429 (2021)

The development of next generation sequencing techniques has facilitated the detection of mutations at an unprecedented rate. These efficient tools have been particularly beneficial for extremely heterogeneous disorders such as autosomal recessive no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64784a76361bd03c51d0cb19e0388e9
http://europepmc.org/articles/PMC8324942

Accuracy of rapid antigen detection test for nasopharyngeal swab specimens and saliva samples in comparison with RT-PCR and viral culture for SARS-CoV-2 detection

Autor: Yuri Furusawa, Naoki Hasegawa, Terumichi Nakagawa, Yoshifumi Uwamino, Mika Nagata, Rika Inose, Kiyoko Iwatsuki-Horimoto, Mitsuru Murata, Yuko Sakai-Tagawa, Wataru Aoki, Yoshihiro Kawaoka, Hiromitsu Yokota

Publikováno v: Journal of Infection and Chemotherapy

Introduction Rapid antigen detection (RAD) tests are convenient tools for detecting the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in clinics, and testing using saliva samples could decrease the risk of infection during sample colle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::805a0e439b6f3c69f5282f8fea4eea66
http://europepmc.org/articles/PMC8052479

New insights into the pathophysiology and clinical care of rare primary liver cancers

Autor: François Cauchy, Olivier Soubrane, Elia Gigante, Valérie Paradis, Nathalie Ganne-Carrié, Jean-Charles Nault, Maxime Ronot

Publikováno v: JHEP Reports Innovation in Hepatology
JHEP Reports Innovation in Hepatology, Elsevier, 2021, 3, pp.100174-. ⟨10.1016/j.jhepr.2020.100174⟩
JHEP Reports
JHEP Reports Innovation in Hepatology, 2021, 3, pp.100174-. ⟨10.1016/j.jhepr.2020.100174⟩

International audience; Hepatocholangiocarcinoma, fibrolamellar carcinoma, hepatic haemangioendothelioma and hepatic angiosarcoma represent less than 5% of primary liver cancers. Fibrolamellar carcinoma and hepatic haemangioendothelioma are driven by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ab7088568fdb8caf56f1efb63cf2cd
https://hal.archives-ouvertes.fr/hal-03493211

An AI-based radiomics nomogram for disease prognosis in patients with COVID-19 pneumonia using initial CT images and clinical indicators

Autor: Xianchun Zeng, Xingzhi Xie, Mudan Zhang, Jun Liu, Chencui Huang, Xinfeng Liu, Rongpin Wang

Publikováno v: International Journal of Medical Informatics

Background This study utilized a comprehensive nomogram to evaluate the prognosis of patients with COVID-19 pneumonia. Methods: COVID-19 pneumonia data was divided into training set (256 of 321, 80%), internal validation set (65 of 321, 20%) and inde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8aa54f51265ba6eba97224a17c4093d
https://doi.org/10.1016/j.ijmedinf.2021.104545

Insights into forsythia honeysuckle (Lianhuaqingwen) capsules: A Chinese herbal medicine repurposed for COVID-19 pandemic

Autor: Hui Nan, Xiaodong Ren, Pengcheng Yu, Hong Liu, Qiao Guaiping, Wenqiang Cao, Liu Yuzhi, Ju Xingke, Li Han, Jia Minyi, Lei Tian, Li Juan, Liang Chengyuan

Publikováno v: Phytomedicine Plus
Phytomedicine Plus, Vol 1, Iss 2, Pp 100027-(2021)

Highlights • The present review summarizes the plausible molecular mechanism of specific LH capsules in the control of SARS-COV-2 infection and the inhibition of cytokine storms caused by IL-6. • Preclinical and clinical trials of LH capsules in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed6ee319ef2e397034c14aa22649908
https://doi.org/10.1016/j.phyplu.2021.100027