Critically ill children with SARS-COV-2 Omicron infection at a national children medical center, Guangdong, China.

Background: SARS-CoV-2 infection is described as asymptomatic, mild, or moderate disease in most children. SARS-CoV-2 infection related death in children and adolescents is rare according to the current reports. COVID-19 cases increased significantly in China during the omicron surge, clinical data regarding pediatric critical patients infected with the omicron variant is limited.

Clinical application of SARS-CoV-2 antibody detection and monoclonal antibody therapies against COVID-19.

The purpose of this study was to investigate the clinical application of severe acute respiratory distress syndrome coronavirus-2 (SARS-CoV-2) specific antibody detection and anti-SARS-CoV-2 specific monoclonal antibodies (mAbs) in the treatment of coronavirus infectious disease 2019 (COVID-19). The dynamic changes of SARS-CoV-2 specific antibodies during COVID-19 were studied. Immunoglobulin M (IgM) appeared earlier and lasted for a short time, while immunoglobulin G (IgG) appeared later and lasted longer.

Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.

Background: Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinically, IMO can be diagnosed with medical examination, bone mineral density test and whole genome sequencing.

Case Presentation: We present the case of a 4-month-old male infant with abnormal skull development, hypocalcemia and premature closure of the cranial sutures.

Capillary electrophoresis based on nucleic acid analysis for diagnosing inherited diseases.

Most hereditary diseases are incurable, but their deterioration could be delayed or stopped if diagnosed timely. It is thus imperative to explore the state-of-the-art and high-efficient diagnostic techniques for precise analysis of the symptoms or early diagnosis of pre-symptoms. Diagnostics based on clinical presentations, hard to distinguish different phenotypes of the same genotype, or different genotypes displaying similar phenotypes, are incapable of pre-warning the disease status.

Regulation of JAK/STAT signal pathway by miR-21 in the pathogenesis of juvenile idiopathic arthritis.

Background: Overexpression of the components of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) signalling pathway is the key factor of the pathogenic mechanisms underlying systemic juvenile idiopathic arthritis (sJIA). The study aims to investigate the association between miR-21 and the JAK/STAT signal pathway in JIA.

Methods: Total RNA was extracted from peripheral blood mononuclear cells (PBMCs) in active JIA patients.

Clinical and laboratory features, treatment, and outcomes of macrophage activation syndrome in 80 children: a multi-center study in China.

Background: Macrophage activation syndrome (MAS) is a major cause of morbidity and mortality in pediatric rheumatology. We aimed to further understand the clinical features, treatment, and outcome of MAS in China.

Methods: A multi-center cohort study was performed in seven hospitals in China from 2012 to 2018.

Capillary Electrophoresis Based on Nucleic Acid Detection as Used in Food Analysis.

Food safety and food production are closely related to the health of consumers. Food-related accidents often cause tremendous losses of personnel and property. Thus, rapid detection and analysis of ingredients in food, tracing food sources, studying the optimal conditions for food production, and more are vital for preventing incidents related to safety.

Effect of miR-19a and miR-21 on the JAK/STAT signaling pathway in the peripheral blood mononuclear cells of patients with systemic juvenile idiopathic arthritis.

Overexpression of the components of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) signaling pathway are key factors of the pathogenic mechanisms underlying systematic juvenile idiopathic arthritis (SJIA). The present study aimed to investigate the association between microRNA (miR)-19a, miR-21 and the JAK/STAT signaling pathway. A total of 20 patients with SJIA were included in the study, and peripheral blood mononuclear cells (PBMCs) from 20 normal controls were also collected.

[Analysis of single nucleotide polymorphisms at IL-6-174 and TNF-β NcoI in Chinese Han children in Guangzhou, China].

Objective: To investigate the single nucleotide polymorphisms (SNPs) at interleukin 6 (IL-6)-174 and TNF-β NcoI in Chinese Han children in Guangzhou, China and to provide basic information for study on the association between IL-6-174 and TNF-β NcoI polymorphisms and systemic inflammatory response syndrome (SIRS).

Methods: Allele-specific polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism were used to determine the SNPs at IL-6-174 and TNF-β NcoI in 481 children selected from the Han population in Guangzhou in 2012. Genotype analysis and comparison with other populations were made with reference to relevant literature.

Leflunomide inhibits the apoptosis of human embryonic lung fibroblasts infected by human cytomegalovirus.

Background: The immunomodulatory drug leflunomide (LEF) is frequently used for treating human cytomegalovirus (HCMV), but its antiviral mechanism is still unclear. In this study,we therefore investigated the effects of the active LEF metabolite A771726 on the HCMV lifecycle in human embryonic lung fibroblasts. We clarified the mechanism of LEF antiviral infection, and provide a new way to treat immune dysfunction patients with HCMV infection.

Penicilliosis in children without HIV infection--are they immunodeficient?

Background: Penicillium marneffei infection is indigenous to Southeast Asia. Majority of penicilliosis occurs in patients with AIDS, and less commonly with secondary immunodeficiencies. Penicilliosis is rare in otherwise healthy persons, but information on their immunological status is often lacking.

Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for IL2RG, JAK3, IL7R, RAG1, RAG2, DCLRE1C, LIG4, AK2, and ZAP70 mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient's gender, immune phenotype, and inheritance pattern. Mutations were identified in 26 patients, including IL2RG (n = 19), IL7R (n = 2), JAK3 (n = 2), RAG1 (n = 1), RAG2 (n = 1), and DCLRE1C (n = 1).

[HLA-DRB1 allelic polymorphism in children with juvenile idiopathic arthritis].

Objective: To investigate the predisposing alleles of HLA-DRB1 genes in Han children with juvenile idiopathic arthritis (JIA) from Guangdong Province, China.

Methods: Polymerase chain reaction-specific sequence primers (PCR-SSP) method was used to type HLA-DRB1 subregions in 94 Han children with JIA and 226 Han healthy controls.

Results: The frequency of HLA-DRB1*08 allele in the JIA group was significantly higher than that in the control group (P=0.

Characterization of eight polymorphic microsatellite loci for the leopard coralgrouper (Plectropomus leopardus Lacepède).

Eight polymorphic microsatellite loci were isolated and characterized from a microsatellite DNA-enriched DNA library for the leopard coralgrouper (Plectropomus leopardus Lacepède, 1802), a popular food fish in the East Indies. These loci showed polymorphism information content ranging from 0.493 to 0.

Characterization of 12 polymorphic microsatellite loci for the whitespotted bamboo shark (Chiloscyllium plagiosum Bennett).

Twelve polymorphic microsatellite loci without linkage disequilibrium were isolated and characterized from a microsatellite DNA-enriched DNA library for the whitespotted bamboo shark (Chiloscyllium plagiosum Bennett, 1830). These loci show polymorphism information content ranging from 0.384 to 0.

The association with the -159C/T polymorphism in the promoter region of the CD14 gene and juvenile idiopathic arthritis in a Chinese Han population.

Objective: Juvenile idiopathic arthritis (JIA) is generally considered to be caused by interaction of genetic and environmental factors. We investigated the association of a C-to-T transition in the promoter region of the CD14 gene on chromosome 5q31.1 and JIA in a Chinese Han population.

Gene polymorphism of vascular endothelial growth factor in children with Henoch-Schonlein purpura nephritis.

Objective: To study the relationship of -634G/C gene polymorphism of vascular endothelial growth factor (VEGF) with Henoch-Schonlein purpura nephritis (HSPN) in children.

Methods: One hundred ethnic Han children with HSP, including 50 children with concurrent nephritis (HSPN group) and 50 children without nephritis (HSP without nephritis group), were enrolled. Fifty age-, sex-and ethnics-matched healthy children were used as the control group.

Macrophage activation syndrome in 13 children with systemic-onset juvenile idiopathic arthritis.

Background: Macrophage activation syndrome (MAS) is a severe, potentially life-threatening condition induced by chronic rheumatic diseases, especially systemic-onset juvenile idiopathic arthritis (SoJIA) in childhood. This study aimed to analyze the clinical and laboratory characteristics of systemic-onset juvenile idiopathic arthritis (SoJIA) with macrophage activation syndrome (MAS) in 13 patients.

Methods: Clinical and laboratory data of 13 SoJIA patients with MAS treated in our hospital from January 2003 to October 2007 were analyzed.

Characterization of eight polymorphic microsatellite loci for the giant grouper (Epinephelus lanceolatus Bloch).

Eight polymorphic microsatellite loci were isolated and characterized using a small insert genomic DNA library for the giant grouper (Epinephelus lanceolatus Bloch, 1790), a commercially valuable marine fish in tropical waters. They showed polymorphism information content ranging from 0.177 to 0.

[Glutathione S-transferase M1, T1 genotypes and the risk of mountain sickness].

Objective: To explore the relationship between genetic polymorphisms of glutathione S-transferase (GST) M1, T1 and susceptibility to mountain sickness.

Methods: Forty-three soldiers with acute mountain sickness and 80 healthy soldiers matching with sex/age and training under the same condition were divided into case group and control group. A multiple polymerase chain reaction method was used to detect GSTM1 and GSTT1 genes in genomic DNA isolated from peripheral blood cells from both cases and controls.

[Relationship between heat stress protein 70 gene polymorphisms and the risk of acute mountain sickness].

Objective: To investigate the relationship between heat stress proteins 70 (HSPs70) gene polymorphism and the risk of acute mountain sickness.

Methods: Fifty-six soldiers with acute mountain sickness and 173 soldiers without that were chosen as cases and controls. HSP70-1, HSP70-2 genotypes were analyzed by using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.

[Clinical characteristics and prognosis of 33 children with severe acute respiratory syndrome in Guangzhou area].

Objective: Since the outbreak of a highly contagious new pneumonia, atypical pneumonia or severe acute respiratory syndrome (SARS) occurred in Guangzhou area, 33 children with this syndrome were treated in the authors' hospital. The present study aimed to understand clinical characteristics and prognosis of pediatric SARS patients in Guangzhou area.

Methods: Clinical manifestations, laboratory and radiologic findings, therapeutic approaches and prognosis of the 33 children with SARS in Guangzhou area were analyzed.