Biotinidase deficiency is an autosomal recessive genetic disease with the decrease of biotinidase activity,which is caused by mutations of biotinidase gene.In recent years,with the development of genetic metabolic disease screening,biotinidase deficiency has been diagnosed constantly.Its incidence is about 1 ∶ 60 000 persons overseas and its clinical manifestations are complicated with high mortality and morbidity.In this paper,advances on pathogenesis,clinical manifestations,diagnosis and treatment of biotinidase deficiency will be reviewed.

The HPLC-ELSD method was used in the content determination of astragaloside, astragalosideⅠ, astragalosideⅡand astragalosideⅢ in Mongolia Radix Astragali (Astragalus membranaceus(Fisch.) Bge. var. mongholicus(Bge.) Hsiao) among 16 batches from various habitats. The DIKMA Diamonsil C18 (150 mm× 4.6 mm, 5μm) was adopted with acetonitrile and water as the mobile phase at a gradient mode program. The flow rate was 1.0 mL·min-1. And the column temperature was 30℃. The ELSD detector parameters were the drift tube temperature at 90℃, and the air flow rate of 2.8 L·min-1. The SPSS 16.0 software was used in the cluster analysis of content determination. The results showed that when the injection volume was within the range of 0.093 2-1.02μg (r = 0.999 5), 0.789-8.78μg (r = 0.999 7), 0.506-3.13μg (r = 0.999 6), and 0.016 1-1.38μg (r = 0.999 2) for astragaloside, astragalosideⅠ, astragalosideⅡ and astragalosideⅢ, respectively, the average recoveries were 97.55%, 98.61%, 99.68%, 98.58%with RSD of 1.2%, 1.3%, 1.3%, 1.2%, respectively. The results of cluster analysis showed that the single using of astragaloside as index was unable to differentiate Mongolia Radix Astragali from various habitats. However, the simultaneous determination of 4 types of astragalosides as indexes can differentiate Mongolia Radix Astragali from various habitats. It was concluded that the method was simple, quick and accurate, which can directly reflect the quality status of Mongolia Radix Astragali from different origins. It also provided new ideas for the quality control of Mongolia Radix Astragali.

BACKGROUND: It has been recently found that endothelial progenitor cells (EPCs) can promote injured endothelial healing. There is a supposition that in-stent restenosis possibly correlates with the number and/or activity of EPCs.OBJECTIVE: To comparatively observe the number and activity of circulating EPCs in patients with and without coronary in-stent restenosis, and to verify the above-mentioned supposition.DESIGN, TIME AND SETTING: This study, a comparative observation, was performed at the Department of Internal Medicine, Beijing Shijitan Hospital, Department of Internal Medicine, First Hospital, Peking University, and Department of Physiology and Pathophysiology, Peking University Health Science Center between March 2005 and May 2007.PARTICIPANTS: According to the coronary angiography, 15 patients were recruited into the restenosis group and 17patients with patent stents were selected into the control group.METHODS: Total peripheral mononuclear cells were isolated from blood of patients with restenosis or control subjects by Ficoll density-gradient centrifugation. These cells were plated on dishes coated with human fibronection. After 7 days in culture, the nature of adherent cells was confirmed by direct fluorescent staining with the use of 1,1'-dioctadecyl-3,3,3',3'-tetramethylindocarbocyanide percholate-labelled acetylated low-dencity lipoprotein and fluorescein isothiocyanate-labeled ulex europaeus agglutinin-Ⅰ under a laser scanning confocal microscope. Cells demonstrating double-positive fluorescence were identified as differentiating EPCs.MAIN OUTCOME MEASURES: After 7 days of culture, EPCs were counted under an inverted microscope. Proliferation of EPCs was determined using the MTT colorimetric assay. Migration of EPCs was assayed using the scratch assay qualitatively. EPCs adhesion was performed by replating cells on fibronectin-coated dishes and then counting the adherent cells.RESULTS: The number of EPCs was significantly reduced in patients with in-stent restenosis compared with that in the control group (P = 0.001). The proliferative activities were impaired in the in-stent restenosis group than in the control group(P < 0.05). In addition, the migrative activities were also impaired in the in-stent restenosis group, but no significant difference in adherent activities existed between the two groups (P > 0.05).CONCLUSION: The number and functional activities of proliferation and migration of EPCs were decreased in patients with in-stent restenosis, which may be related to the number and/or activities of EPCs.

3-hydroxy-3-methylglutaric aciduria is a rare organic aciduria inherited by autosomal recessive trait.It is caused by the mutations in 3-hydroxy-3-methylglutaryl-CoA lyase gene.The clinical onset usually occurs in the neonatal and infant period.In recent years,with the development of technology for screening inherited metabolic diseases,the number of children with 3-hydroxy-3-methylglutaric aciduria are increasing.The incidence of this disease is about 1 ∶ 100 000 in reports of Europe and the United States.The incidence in China is unknown.In this paper,the advances on pathogenesis,clinical manifestations,diagnosis and treatment of 3-hydroxy-3-methylglutaric aciduria will be reviewed so as to improve the understanding of this disease and provide reference for its clinical diagnosis and treatment.

OBJECTIVE: To explore the clinical and genetic characteristics of a very early-onset inflammatory bowel disease (VEO-IBD) type 28 child with atypical clinical manifestations. METHODS: A VEO-IBD type 28 child with atypical clinical manifestations admitted to the Department of Neonatology, Children's Hospital Affiliated to Shandong University on November 5, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral venous blood samples of the child and his parents were collected for high-throughput sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 50-day-old male, had manifested bronchitis, ulcerative stomatitis, eczema and slightly loose stool. High-throughput sequencing revealed that he has harbored compound heterozygous variants of the IL-10RA gene, namely c.299T>G (p.V100G) and c.301C>T (p.R101W), which were inherited from his father and mother, respectively. Bioinformatic analysis showed that both variants have been recorded in the HGMD database, though the c.299T>G variant has not been included in the gnomAD, 1000 Genomes, ExAC and ESP6500 databases, while the c.301C>T variant has a low population frequency. Both variants were predicted to be deleterious by the online software including SIFT, PolyPhen-2 and Mutation Taster. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PS3+PM2_Supporting+PP3). CONCLUSION The c.299T>G and c.301C>T variants of the IL-10RA gene probably underlay the VEO-IBD type 28 in this child. Above finding has expanded the phenotypic spectrum of VEO-IBD type 28 due to variants of the IL-10RA gene and provided a reference for the clinical diagnosis of this disease.
Humans ; Child ; Male ; Computational Biology ; Diarrhea ; Gene Frequency ; Inflammatory Bowel Diseases/genetics* ; Mutation

Objective : To explore the nucleotide variation and protein amino acid changes of E4 and L2 genes of Human Papillomavirus 16 (HPV16) , and to analyze the evolutionary characteristics of HPV16 virus. Methods : 40 HPV16 infection⁃positive cervical exfoliated cells samples and tissue cell samples were collected from hospital , viral DNA was extracted , Sanger sequencing perform in cervical exfoliated cells DNA and high⁃throughput sequencing technology sequenced in cervical tissues DNA for E4 and L2 genes of HPV16 , HPV16 E4 and L2 gene phylogenetic evolution trees were constructed , and variation of HPV16 E4 and L2 genes were analyzed. Results : There were 72 HPV16 E4 variant samples with nucleotide variants (4 missense mutations and 7 synonymous mutations) at 10 sites , HPV16 L2 gene variants in 74 samples , and nucleotide variants (23 missense mutations and 18 synonymous mutations) at 40 sites. The variation frequency of T4177C , A4288C and A4654C in cervical cancer was significantly higher than that in non⁃cervical cancer, and the difference was statistically significant (P < 0. 05) . Conclusion ① The main HPV16 virus strains in Xinjiang are European strains , and a few are Asian strains. ② The mutation frequency of T4177C , A4288C and A4654C in HPV16 L2 gene is higher than that in non⁃cervical cancer, and G4181A is related to the Asian strain.