Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

Williams-Beuren syndrome (WBS) is a genetic disease characterized by distinct facial features,short stature,hypotonia,mental retardation,overfriendly and hyper-social behavior,congenital heart disease,infantile hypercalcemia,arterial hypertension and other variable clinical manifestations in organs and systems such as the kidneys,eyes,gastrointestinal and osteoarticular systems (Morris and Mervis,2000).This mental retardation syndrome occurs in 1/20,000 live births (Meyer-Lindenberg et al.,2006).It is caused by a 1.55-1.84 Mb microdeletion in 7q 11.23,a region containing approximately 28genes.Depending on the genes deleted,the phenotypes of WBS patients range from isolated supravalvular aortic stenosis (SVAS) to full expression of the WBS characteristics.Most cases are sporadic (Ewart et al.,1993;Perez Jurado et al.,1996).     

Evaluation of Antibody-Dependent Enhancement of SARS-CoV Infection in Rhesus Macaques Immunized with an Inactivated SARS-CoV Vaccine

正Dear Editor,In 2003,severe acute respiratory syndrome coronavirus(SARS-CoV)emerged in Guangdong Province,China,infected more than 8000 individuals,and resulted in a 10%mortality rate(Rota et al.2003).Later,in 2012,a novel CoV,Middle East respiratory syndrome coronavirus(MERS-CoV),was isolated from the sputum of a man in Saudi Arabia(Perl et al.2014).Notably,MERS-CoV     

Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients

<正>Marfan syndrome(MFS)(OMIM 154700) is a relatively common autosomal dominant genetic disease that causes skeletal, ocular,and cardiovascular defects and was first described by a French pediatrician in 1896(Bitterman and Sponseller, 2017). Its prevalence rate is 1/3000 e1/5000, and more than 25% of cases are sporadic(Chiu et al., 2014). Studies have shown that about 90% of MFS is caused by variants in the fibrillin-1 gene(FBN1, OMIM 134797).     

Artemisinin analogue SM934 protects against lupus-associated antiphospholipid syndrome via activation of Nrf2 and its targets

Kidney is a major target organ in both antiphospholipid syndrome(APS) and systemic lupus erythematosus(SLE). The etiology of antiphospholipid syndrome nephropathy associated lupus nephritis(APSN-LN) is intricate and remains largely unrevealed.We proposed in present work, that generation of antiphospholipid antibodies(a PLs), especially those directed towards the oxidized neoepitopes, are largely linked with the redox status along with disease progression. Moreover, we observed that compromised antioxidative capacity coincided with turbulence of inflammatory cytokine profile in the kidney of male NZW×BXSB F1 mice suffered from APSN-LN. SM934 is an artemisinin derivative that has been proved to have potent immunosuppressive properties. In current study, we elaborated the therapeutic benefits of SM934 in male NZW×BXSB F1 mice,a murine model develops syndrome resembled human APS associated with SLE, for the first time. SM934 treatment comprehensively impeded autoantibodies production, inflammatory cytokine accumulation and excessive oxidative stress in kidney.Among others, we interpreted in present work that both anti-inflammatory and antioxidative effects of SM934 is closely correlated with the enhancement of Nrf2 signaling and expression of its targets. Collectively, our finding confirmed that therapeutic strategy simultaneously exerting antioxidant and anti-inflammatory efficacy provide a novel feasible remedy for treating APSN-LN.     

Association of HLA classⅠand classⅡgenes with severe acute respiratory syndrome in the northern Chinese population

Severe acute respiratory syndrome (SARS) was a major epidemic at the beginning of the 21^st century. This highly infectious disease is caused by a novel coronavirus (SARS-CoV), whose immune reaction is still not completely understood. This study described the genetic patterns of HLA-A, -B, and -DRB1 loci in patients from Beijing who survived SARS, and examined whether an association between HLA genes and susceptibility/resistance to SARS exists. A total of 148 Chinese Han SARS survivors were recruited to donate convalescent plasma in 2003. HLA low-resolution genotyping was carried out using PCR-SSP. Allele frequencies were compared with published frequencies of HLA alleles from 11 755 unrelated northern Chinese Han bone marrow donors by Fisher''s exact test. In this cohort, 13, 25 and 13 alleles were observed at HLA-A, -B, and -DRB1 loci respectively. Fisher''s exact tests revealed four alleles (A*26, DRB1*04, DRB1*09, and DRB1*16) that showed a nominal association significance with the SARS virus (P<0.05), yet none of these associations remained significant after correction. Our study suggests that HLA polymorphisms were unlikely to have contributed significantly to either the susceptibility or resistance to the SARS-Cov infection in patients who survived SARS in the Northern Chinese population, thus leaving an open question for future studies into a possible association HLA class Ⅰ and class Ⅱ genes with SARS in patients who were unable to survive the infection.     

Turning the corner from observation to intervention in human genetics

正In the early 1990s,shortly after we identified the genetic defect in FMR1 that results in fragile X syndrome(Verkerk et al.,1991),I attended a conference sponsored by the US National Fragile X Foundation.This biannual meeting mixes families and scientists in a very productive and enlightening way.One of the keynote talks was from a scientist who was generating viral vectors for use in gene therapy.This researcher suggested that gene replacement therapy for fragile X syndrome would soon be a reality given the     

The spike protein of severe acute respiratory syndrome (SARS) is cleaved in virus infected Vero-E6 cells

INTRODUCTION The severe acute respiratory syndrome (SARS), causedby SARS-associated coronavirus (SARS-CoV) [1], wasrecently identified as a new clinical entity. It apparentlybegan in Guangdong province of China in November of2002 and has spread to sever…     

Australian Hajj pilgrims’ knowledge about MERS-CoV and other respiratory infections

<正>Dear Editor,With the intense crowding in mass gatherings such as Hajj,there is a high risk of acquisition of airborne in-fections with the potential for its transmission in the pilgrims’country of origin(Memish Z A,et al.,2014).The risk of importing serious infections from Hajj has escalated since the emergence of the Middle East respiratory syndrome coronavirus(MERS-CoV)in Saudi Arabia and other neighbouring countries from September2012.Active surveillance of Hajj pilgrims in 2012 and 2013     

Orally administered BZL-s RNA-20 oligonucleotide targeting TLR4 effectively ameliorates acute lung injury in mice

The global COVID-19 pandemic emerged at the end of December 2019. Acute respiratory distress syndrome(ARDS) and acute lung injury(ALI) are common lethal outcomes of bacterial lipopolysaccharide(LPS), avian influenza virus, and SARS-Co V-2.Toll-like receptor 4(TLR4) is a key target in the pathological pathway of ARDS and ALI. Previous studies have reported that herbal small RNAs(s RNAs) are a functional medical component. BZL-s RNA-20(Accession number: B59471456; Family ID:F2201.Q001979.B11) is a...     

Studying bona fide SARS-CoV-2 biology in a BSL-2 biosafety environment using a split-virus-genome system

<正>Dear Editor,Severe acute respiratory syndrome coronavirus 2(SARSCoV-2) was identified as the pathogen causing the coronavirus disease(COVID-19), which sometimes resulted in fatal pneumonia(Hu et al., 2021). SARS-CoV-2 is a biosafety level 3(BSL-3) pathogen, and the requirement for high containment conditions is a bottleneck for basic research on viral biology.     

Recombinant scFv antibodies against E protein and N protein of severe acute respiratory syndrome virus

Severe acute respiratory syndrome (SARS) brought aglobal outbreak in spring of 2003 [1–3], and more andmore attention has been paid on it when a new caseresurfaced in Singapore last September [4]. By the endof May in 2003, WHO reported a cumulative total of 8202infected cases with 725 deaths from 28 countries.Because of the high transmission and morality rate ofSARS, scientists in many countries have made theirefforts in studying SARS coronavirus (SARS-CoV)[5, 6]. Several genomes of…     

Biomarkers for Primary Sjgren's Syndrome

Primary Sjo¨gren's syndrome(p SS) is a systemic autoimmune disease with exocrine gland dysfunction and multi-organ involvement. Recent progress in understanding the pathogenesis of p SS offers an opportunity to find new biomarkers for the diagnosis and assessment of disease activity. Screening noninvasive biomarkers from the saliva and tears has significant potential. The need for specific and sensitive biomarker candidates in p SS is significant. This review aims to summarize recent advances in the identification of biomarkers of Sjo¨gren syndrome, trying to identify reliable, sensitive, and specific biomarkers that can be used to guide treatment decisions.     

Waldenström macroglobulinemia – definition, symptoms, and treatment

Waldenstr?m macroglobulinemia (WM) is a low-grade lymphoplasmacytic lymphoma of mature IgM⁺ B-lymphocytes that remains incurable despite recent practice-altering therapeutic advances and refinements in patient care. Defining features of WM include symptoms that can either be attributed to the extent and site of tissue infiltration by tumor cells or the magnitude and immunological specificity of the monoclonal serum IgM (paraprotein). Current guidelines for the therapeutic stratification of patients with newly diagnosed WM recommend BR (bendamustin-rituximab) for bulky and/or symptomatic disease. DRC (dexamethasone-rituximab-cyclophosphamide) is a good treatment option for relapsed or refractory WM. Ibrutinib – a small-drug inhibitor of Bruton tyrosine kinase, approved for WM treatment in the United States and Europe in 2015 – is particularly effective for tumors that harbor the hallmark MYD88^L265P mutation. Plasma exchange is indicated in patients with IgM-dependent hyperviscosity syndrome. The potential development of novel drugs and combination regimens generates promise that the future of patients with WM is bright.     

Nanopore sequencing: a rapid solution for infectious disease epidemics

<正>Emerging and re-emerging infectious diseases have given rise to a large number of human infections, morbidity, and heavy economic burden, including the Middle East respiratory syndrome caused by a coronavirus in 2012, global influenza pandemic caused by the H7N9 influenza A virus in2013, Ebola epidemic in West Africa in 2014, and Lassa fever epidemic in Nigeria in 2019. The healthcare war against viruses deserves constant surveillance due to the continuous emergence of new viruses and rapid evolution of     

Two Na^＋ and Cl^- Hyperaccumulators of the Chenopodiaceae

The authors found five sodium (Na^ ) and chloride (Cl^-) hyperaccumulating halophytes in the Temperate Desert of Xinjiang, China and studied two of them (Suaeda salsa (L.) Pall. and Kalidium folium (Pall.) Moq.). K. folium and S. salsa had a NaCl content of 32.1% and 29.8%, respectively, on a dry weight basis. X-ray microanalysis of the Na in the vacuole, apoplasts and cytoplasm of the two plants indicated a ratio of 7.3:5.6:1.0 in K. folium and 7.3:6.6:1.0 in S. salsa. These data show that K. folium and S. salsa both have a high Na and Cl^- accumulating capacity, which is related to high activity of tonoplast H^ -ATPase and H^ -PPase.     

The role of monocyte-lineage cells in human immuno-deficiency virus persistence: mechanisms and progress

Human immunodeficiency virus type 1(HIV-1) persistence is a major barrier to the successful treatment and eradication of acquired immunodeficiency syndrome(AIDS).In addition to resting CD4+ T cells,a significant long-lived compartment of HIV-1 infection in vivo includes blood monocytes and tissue macrophages.Studying HIV-1 persistence in monocyte-lineage cells is critical because these cells are important HIV-1 target cells in vivo.Monocyte-lineage cells,including monocytes,dendritic cells(DCs) and macrophages,play a significant role in HIV-1 infection and transmission.These cells have been implicated as viral reservoirs that facilitate HIV-1 latency and persistence.A better understanding of HIV-1 interactions with monocyte-lineage cells can potentially aid in the development of new approaches for intervention.This minireview highlights the latest advances in understanding the role of monocyte-lineage cells in HIV-1 persistence and emphasizes new insights into the mechanisms underlying viral persistence.