Clinical outcome upon infection with SARS-CoV-2 ranges from silent infection to lethal COVID-19. We have found an enrichment in rare variants predicted to be loss-of-function (LOF) at the 13 human loci known to govern TLR3- and IRF7-dependent type I interferon (IFN) immunity to influenza virus, in 659 patients with life-threatening COVID-19 pneumonia, relative to 534 subjects with asymptomatic or benign infection. By testing these and other rare variants at these 13 loci, we experimentally define LOF variants in 23 patients (3.5%), aged 17 to 77 years, underlying autosomal recessive or dominant deficiencies. We show that human fibroblasts with mutations affecting this pathway are vulnerable to SARS-CoV-2. Inborn errors of TLR3- and IRF7-dependent type I IFN immunity can underlie life-threatening COVID-19 pneumonia in patients with no prior severe infection.

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To understand the complex physiological process underlying pig testis development and spermatogenesis, this study aims to characterize the change in miRNA and mRNA profiles at four developmental stages of embryonic and postnatal testes, including 60 dpc (days post coitus, E60), 90 dpc (E90), 30-day-old (D30) and 180-day-old (D180). A total of 304 mature, 50 novel miRNAs, and 8343 differentiallyexpressed genes were identified. 93 (48 up and 45 down), 104 (49 up and 55 down), 122 (49 up and 73 down) differentially-expressed miRNAs, as well as 1007 (646 up and 361 down), 1929 (911 up and 1018 down), 7420 (3998 up and 3422 down) differentially-expressed genes were identified in E90 vs. E60, D30 vs. E90 and D180 vs. D30, respectively. Integrating analysis of miRNA and mRNA expression profiles predicted more than 50 000 miRNA-mRNA interaction sites. GO and KEGG pathway analysis of the predicted target genes illustrated the likely roles of differentially expressed miRNAs in testis development and spermatogenesis. For example, PI3K-Akt signaling pathway and Hippo signaling pathway related development, and carbon metabolism, fatty acid metabolism, protein digestion and absorption, were involved in metabolite synthesis. These integrated high-throughput expression data show that miRNA is a critical factor in porcine testis development, providing a useful resource to understand global genome expression change in porcine testis development and spermatogenesis.

is one of the most commonly performed operations in head and neck surgery with the majority currently performed as an inpatient procedure.  In the current cost-conscious healthcare environment, outpatient parotidectomy is increasingly performed (with or without percutaneous drain) to allow better utilisation of hospital resources.  No previous work has compared the outcomes of outpatient versus inpatient parotidectomy.  This systematic review and meta-analysis shows that outpatient parotidectomy compares favourably to inpatient procedure in post-operative complications and readmission rates.

The incidence of malignant transformation of fibrous dysplasia (FD) is very rare. Thus, the available knowledge of its characteristics, management, and survival is scarce. Here, we present a systemic review of fibrous dysplasia that had undergone malignant transformation. A comprehensive search was performed on PubMed electronic database. The survival rates and hazard ratios of age, gender, past history of previous radiotherapy, type of FD, and treatment were collected from the published articles and analyzed. Forty-eight cases were eligible for inclusion in the study. Patient's age, gender, past history radiotherapy, and type of FD did not influence the overall survival (OS). The Kaplan Meier analysis showed that the patients who had not received any treatment had poor prognosis with a median survival of 4 months. The patients that received surgery had significantly longer OS than that in the biopsy group. The prognosis of malignant transformation of FD is relatively poor, and surgery is the optimal treatment of choice. Nevertheless, the efficacy of postoperative adjuvant therapy to patient OS is still undefined.