The Yutian earthquake of 12 February 2014

An earthquake of Ms (surface wave magnitude) 7.3 occurred in Yutian county in China on 12 February 2014 with the epicentral intensity of IX. The direct economic loss was about 1,080.612 million Yuan. This letter presents details of the tectonic features of the region, the damage caused by the earthquake, and the emergency response soon after the earthquake. The observed tectonic features show that the earthquake resulted from movement along the Altyn Tagh fault (left lateral strike-slip) system

IgG4-related idiopathic hypertrophic pachymeningitis: one case report and review of the literature

Objective To study the clinical, neuroimaging and histopathological features of IgG4-related idiopathic hypertrophic pachymeningitis (IHP). Methods One case of pathologically confirmed IgG4-related IHP was reported, and related literature of the clinical, radiological and pathological characteristics of this disease was reviewed. Postoperative specimen was sent to Department of Pathology, Xuanwu Hospital. It was sliced and then stained with HE method and examined by immunohistochemistrical study (S-100, Ki-67, CD20, CD3, IgG, IgG4). Results The case was a 55-year-old male patient with IHP. The clinical manifestations of IHP were variable. The patient firstly presented seizures of epilepsy showing left limb convulsions. Brain contrast-enhanced MRI showed that the pachymenx was partly thickened with line-like or nodular enhancement. Microscopically, meningeal biopsies showed dura mater encephali was thickened and hardened. Under microscope, meningeal biopsies showed abnormal thickening of the pachymenx with fibrous connective tissue hyperplasia and infiltration of many inflammatory cells. Inflammatory cells were mainly composed of lymphocytes and plasmocytes with a small amount of eosinophils. Immunohistochemistrical study showed a large number of lymphocytes with expression of IgG, and a small part with expression of IgG4. The treatment of IgG4-related IHP with hormones and immunosuppressive agents was effective. Conclusion IHP is a class of unknown etiologic diseases, with dural fibrous inflammatory lesion, and part of the IHP patients may be suffering from IgG4-related IHP. DOI：10.3969/j.issn.1672-6731.2011.05.01

Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Abstract Background Lynch syndrome (LS) is the most common hereditary colorectal cancer (CRC) syndrome. This condition is characterized by germline variants in DNA mismatch repair (MMR) genes, including MLH1, MSH2, MSH6, and PMS2. In this study, we analyzed the molecular defects and clinical manifestations of two families affected with CRC and proposed appropriate individual preventive strategies for all carriers of the variant. Methods We recruited two families diagnosed with CRC and combined their family history and immunohistochemical results to analyze the variants of probands and those of other family members by using whole exome sequencing. Subsequently, gene variants in each family were screened by comparing them with the variants available in the public database. Sanger sequencing was performed to verify the variant sites. An online platform ( https://www.uniprot.org ) was used to analyze the functional domains of mutant proteins. Results A novel frameshift variant (NM_001281492, c.1129_1130del, p.R377fs) in MSH6 and a known deleterious variant (NM_000249.4:c.1731G > A, p.S577S) in MLH1 were identified in the two families with CRC. Using bioinformatics tools, we noted that the frameshift variant reduced the number of amino acids in the MSH6 protein from 1230 to 383, thereby leading to no MSH6 protein expression. The silent variant caused splicing defects and was strongly associated with LS. 5-Fluorouracil-based adjuvant chemotherapy is not recommended for patients with LS. Conclusions The novel frameshift variant (MSH6, c.1129_1130del, p.R377fs) is likely pathogenic to LS, and the variant (MLH1, c.1731G > A, p.S577S) has been further confirmed to be pathogenic to LS. Our findings underscore the significance of genetic testing for LS and recommend that genetic consultation and regular follow-ups be conducted to guide individualized treatment for cancer-afflicted families, especially those with a deficiency in MMR expression

Database Resources of the National Genomics Data Center, China National Center for Bioinformation in 2021

The National Genomics Data Center (NGDC), part of the China National Center for Bioinformation (CNCB), provides a suite of database resources to support worldwide research activities in both academia and industry. With the explosive growth of multiomics data, CNCB-NGDC is continually expanding, updating and enriching its core database resources through big data deposition, integration and translation. In the past year, considerable efforts have been devoted to 2019nCoVR, a newly established resource providing a global landscape of SARS-CoV-2 genomic sequences, variants, and haplotypes, as well as Aging Atlas, BrainBase, GTDB (Glycosyltransferases Database), LncExpDB, and TransCirc (Translation potential for circular RNAs). Meanwhile, a series of resources have been updated and improved, including BioProject, BioSample, GWH (Genome Warehouse), GVM (Genome Variation Map), GEN (Gene Expression Nebulas) as well as several biodiversity and plant resources. Particularly, BIG Search, a scalable, one-stop, cross-database search engine, has been significantly updated by providing easy access to a large number of internal and external biological resources from CNCB-NGDC, our partners, EBI and NCBI. All of these resources along with their services are publicly accessible at https://bigd.big.ac.cn