Heterozygous variants in USP25 cause genetic generalized epilepsy.

USP25 encodes ubiquitin-specific protease 25, a key member of the deubiquitinating enzyme family that is involved in neural fate determination. Although abnormal expression in Down's syndrome was reported previously, the specific role of USP25 in human diseases has not been defined. In this study, we performed trio-based whole exome sequencing in a cohort of 319 cases (families) with generalized epilepsy of unknown aetiology.

A Novel Prognostic Model Predicts Outcomes in Non-Metastatic Nasopharyngeal Carcinoma Based on Inflammation, Nutrition, and Coagulation Signature.

Purpose: This study aimed to assess the prognostic and predictive value of a circulating hematological signature (CHS) and to develop a CHS-based nomogram for predicting prognosis and guiding individualized chemotherapy in non-metastatic nasopharyngeal carcinoma (NPC) patients.

Patients And Methods: NPC patients were recruited between January 2014 and December 2017 at the Jiangxi Cancer Hospital. The CHS was constructed based on a series of hematological indicators.

Risk factors for renal outcomes in children with antineutrophil cytoplasmic antibody-associated vasculitis: a nationwide retrospective study in China.

Background: Pediatric antineutrophil cytoplasmic antibody-associated vasculitis (AAV) is a life-threatening systemic vasculitis featured by liability to renal involvement. However, there are few studies on the risk factors and predictive models for renal outcomes of AAV in children.

Methods: Data from 179 AAV children in multiple centers between January 2012 and March 2020 were collected retrospectively.

Novel Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 () gene and displays an inherited autosomal recessive pattern. In this study, we identified eight mutations, including three novel mutations (c.1103A > G/p.

[Clinicopathological features of children with lupus nephritis with positive antineutrophil cytoplasmic antibody].

Objective: To study the clinicopathological features of children with lupus nephritis (LN) with positive anti-neutrophil cytoplasmic antibody (ANCA).

Methods: A retrospective analysis was performed for the children who were diagnosed with LN in the First Affiliated Hospital of Sun Yat-sen University from January 2003 to December 2019. According to the results of serum ANCA, they were divided into two groups: ANCA-positive group (=59) and ANCAnegative group (=454).

Dihydropyrazothiazole derivatives as potential MMP-2/MMP-8 inhibitors for cancer therapy.

MMP-2/MMP-8 is established as one of the most important metalloenzymes for targeting cancer. A series of dihydropyrazothiazole derivatives (E1-E18) bearing a salicylaldehyde group linked to Pyrazole ring were designed, synthesized, and evaluated for their pharmacological activity as MMP-2/MMP-8 inhibitors. Among them, compound E17 exhibited most potent inhibitory activity (IC = 2.

Codon Optimization Significantly Improves the Expression Level of α -Amylase Gene from Bacillus licheniformis in Pichia pastoris.

α-Amylase as an important industrial enzyme has been widely used in starch processing, detergent, and paper industries. To improve expression efficiency of recombinant α-amylase from Bacillus licheniformis (B. licheniformis), the α-amylase gene from B.

Infliximab is superior to other biological agents for treatment of active ulcerative colitis: A meta-analysis.

Aim: To compare the efficacy and safety of biological agents for the treatment of active ulcerative colitis (UC).

Methods: PubMed, MEDLINE, EMBASE and the Cochrane library were searched to screen relevant articles from January 1996 to August 2014. The mixed treatment comparison meta-analysis within a Bayesian framework was performed using WinBUGS14 software.

High-level expression and characterization of a thermostable xylanase mutant from Trichoderma reesei in Pichia pastoris.

A gene encoding xylanase 2 mutant from Trichoderma reesei (T2C/T28C, named mxyn2) was cloned into the Pichia pastoris X33 strain using the vector pPICZαA. Recombinant Mxyn2p was functionally expressed in P. pastoris X33 and secreted into the supernatant.

Isolation and Sequence Analysis of Highly Pathogenic Porcine reproductive and respiratory syndrome virus from Swine Herds in the Jilin Province of China.

The aim of the present study was to determine the causative agent of infected swines in the Jilin province of China and assess its genetic characteristics. Virus was isolated from tissues suspected of being infected by porcine reproductive and respiratory syndrome virus (PRRSV) and inoculated onto MARC-145 cells. Virus detection was carried out by RT-PCR, immunofluorescence, electron microscopy and sequencing.

Preliminary Extraction and Identification of the 44.5 kDa Outer Membrane Proteins Isolated from Bovine Fusobacterium necrophorum (AB).

Fusobacterium necrophorum (AB) in the pharynx, respiratory tract, female reproductive tract or urinary system is the causative agent of footrot and hepatic abscesses in animals and acute Lemierre's syndrome in humans. Current methods do not effectively protect animals and humans against F. necrophorum (AB).

Non-structural protein 2 of the porcine reproductive and respiratory syndrome (PRRS) virus: a crucial protein in viral pathogenesis, immunity and diagnosis.

Porcine reproductive and respiratory syndrome (PRRS) is a swine disease of significant economic importance that causes reproductive and respiratory problems in pigs. The replicase non-structural protein 2 (Nsp2) of the porcine reproductive and respiratory syndrome virus (PRRSV) is recognized as the most variable region within the PRRSV genome. This review discusses the molecular characteristics and biological and immunological functions of the PRRSV Nsp2 and its involvement in the virus's pathogenesis.

Role of non-structural protein 2 in the regulation of the replication of the porcine reproductive and respiratory syndrome virus in MARC-145 cells: effect of gene silencing and over expression.

Porcine reproductive and respiratory syndrome (PRRS) is an economically important disease in swine-producing areas. Many vaccine strategies have been developed to control the disease, but none have yet been completely successful. The development of a cell line that can produce large yields of PRRSV vaccine is very necessary.

Phylogenetic analysis of the bovine parainfluenza virus type 3 from cattle herds revealing the existence of a genotype A strain in China.

In 2009, a bovine parainfluenza virus (BPIV3), named as NM09, was isolated using MDBK cell culture from the nasal swabs of normal cattle in China. The NM09 isolate was characterized by RT-PCR and nucleotide sequence analysis. Its complete genome was 15,456 nucleotides in length.

[Anti-depression effect of acupunctrue and moxibustion based on SSRIs medication].

Objective: To verify the anti-depression effect of acupuncture and moxibustion based on the medication with selective serotonin reuptake inhibitors (SSRIs).

Methods: Eighty cases of depression were randomly divided into an acupuncture-moxibustion-medication group (25 cases), an acupuncture-medication group (25 cases) and a medication group (30 cases). SSRIs medication was administered in all of the three groups.

[Application of "regulating spirit and conducting qi" therapy in treatment of psychological diseases].

Taking the clinical curative effects of psychological diseases treated with "regulating spirit and conducting qi" therapy as the starting point, the manipulation and technology method of "regulating spirit and conducting qi" therapy are introduced in the paper. Based on analysis of "conducting qi" therapy of Neijing (Internal Classic), it is summarized that, in "regulating spirit and conducting qi" therapy, tardiness and tenderness are taken as technical core of manipulation, individualization of patients is taken as basis, and regulation on spirit as key issue of technology, so as to rapidly, effectively and safely regulate the functional status of emotion and organism. It is aq effective technology method for treating psychological diseases, especially for insomnia, anxiety and somatic symptoms, with better curative effects.

Pathogenesis and phylogenetic analyses of canine distemper virus strain ZJ7 isolate from domestic dogs in China.

A new isolate of canine distemper virus (CDV), named ZJ7, was isolated from lung tissues of a dog suspected with CDV infection using MDCK cells. The ZJ7 isolate induced cytopathogenic effects of syncytia in MDCK cell after six passages. In order to evaluate pathogenesis of ZJ7 strain, three CDV sero-negative dogs were intranasally inoculated with its virus suspension.

[Efficacy and safety of cyclosporine A in treatment of refractory nephrotic syndrome in children: a systematic review of randomized controlled trials].

Objective: To evaluate the efficacy and safety of cyclosporine A(CsA) in the treatment of refractory nephrotic syndrome (RNS) in children.

Methods: The Cochrane library, PubMed, EMBASE, CBMdisk, CNKI and VIP were searched from the time when the databases were established to December 31, 2008. Reports on RCTs on treating RNS in children with CsA were collected.