[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development].

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.

Gut microbiota and obesity-associated osteoarthritis.

Obesity is a well-known primary risk factor for osteoarthritis (OA). In recent decades, the biomechanics-based theoretical paradigm for the pathogenesis of obesity-associated OA has been gradually but fundamentally modified. This modification is a result of accumulating evidence that biological factors also contribute to the etiology of the disease. The gut microbiota is a complicated ecosystem that profoundly influences the health of the host and can be modulated by the combined effects of environmental stimuli and genetic factors. Recently, enteric dysbacteriosis has been identified as a causal factor in the initiation and propagation of obesity-associated OA in animal models. Gut microbes and their components, microbe-associated lipid metabolites, and OA interact at both systemic and local levels through mechanisms that involve interplay with the innate immune system. However, the demonstration of causality in humans will require further studies. Nonetheless, probiotics, prebiotics, dietary habits and exercise, which aid the restoration of a healthy microbial community, are potential therapeutic approaches in the treatment of obesity-associated OA.

Studying genetic diversity in the core germplasm of confectionary sunflower (Helianthus annuus L.) in China based on AFLP and morphological analysis.

Characterization of germplasm resources of confectionary sunflower is critical to assess collection diversity and enhance utilization which is few referred. 70 germplasm representing 12 provinces of China was characterized using 8 amplified fragment length polymorphic (AFLP) primers and 17 morphological descriptors. Euclidean distance were used for AFLP and morphological data ranged from 0.32 to 1.56 and from 0.30 to 1.48 respectively. No two germplasm had a distance of zero, showing there were no duplicate entries. Cluster analysis of AFLP data were determined by SAS which 70.0% of the total germplasm (49 entries) were including in the two main clusters I and II. A wild germplasm was single in the end cluster which is at 1.56 distance level to other clusters. For morphological data, 75.7% of the germplasm (53 entries) were in two main clusters II and III. This clustering pattern for AFLP and morphological data suggested unique germplasm were generally under represented in the collection. The morphological-based clusters showed some locality separation by germplasm origin, but in general, origin did not correspond closely with the clustering pattern. Principal component analysis (PCA) showed the first seven principal components accounted for 81.33% of the total variation, of which 43.05% was contributed by the first two principal components.

Preparation of diazotized polystyrene latex and its use in agglutination assays.

The preparation of this immunological latex consisted of the following steps: the synthesis of polystyrene, polynitrostyrene, polyaminostyrene and polystyrene diazonium salt latex. The quantities of emulsifier and initiator used in the synthesis of the polystyrene latex were much larger than those used in the conventional method. Reduction of the polynitrostyrene latex involved adding latex dropwise to a large excess of 6% sodium hydrosulphite-2 N potassium hydroxide solution with sodium lauryl benzene sulphonate as an emulsifier. When the mixture was heated at 70 degrees C for 4 h, the emulsion of polyaminostyrene was diazotized. The polystyrene diazonium salt latex obtained was capable of combining with 20-40% by weight of antibody protein. The immunopolystyrene diazonium latex reagents showed a positive agglutination reaction of 78-91% when mixed with serum from patients with leptospirosis and two other infectious diseases. The test, which can be completed within 3 min has been used to assay over 1200 patient samples.