23 results on '"Guosong Shen"'
Search Results
2. Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors
- Author
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Xueping Shen, Zhi Li, Xuekui Pan, Juan Yao, Guosong Shen, Su Zhang, Minyue Dong, and Lihong Fan
- Subjects
Genetics ,Molecular Medicine ,Genetics (clinical) - Abstract
The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal dysplasias. The typical phenotypes include the Pelger−Huet anomaly (PHA) and embryonic lethal Greenberg dysplasia (GRBGD). With the further study of this gene, other phenotypes have been found in different individuals. This retrospective study analyzed recurrent prenatal moderate skeletal dysplasias in Chinese fetuses. Nothing malformed was detected in the fetal karyotype and microarray, while the whole-exome sequencing identified a homozygous variant (NM_002296.4:c.1757G>A, NP_002287.2:p.Arg586His) in exon 14 of the LBR gene in both fetuses. Mutation analysis in the parents confirmed that the c.1757G>A variation is heterozygous by Sanger sequencing. Intensive analysis on bioinformatics and familial co-segregation suggest that the homozygous variation in the LBR gene is responsible for this recurrent prenatal moderate skeletal dysplasia. Moreover, moderate skeletal dysplasias differ from typical GRBGD phenotypes. Our findings are based on the DNA base test and the prenatal diagnosis of skeletal dysplasia, which can be helpful in proper phenotyping and contribute to a better understanding of the correlation between the phenotype and genotype.
- Published
- 2023
3. Asymmetric Aminations and Kinetic Resolution of Acyclic <scp>α‐Branched</scp> Ynones
- Author
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Faqian He, Guosong Shen, and Xiaoyu Yang
- Subjects
Chemistry ,Computational chemistry ,Enantioselective synthesis ,General Chemistry ,Amination ,Kinetic resolution - Published
- 2021
4. [Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I]
- Author
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Xinli, Zhang, Guosong, Shen, Liming, Pan, Xueping, Shen, and Yaqin, Zhang
- Subjects
Male ,Mutation ,XYY Karyotype ,Humans ,Sex Chromosome Disorders ,Genetic Testing ,Child - Abstract
To explore the genetic basis for a child with mental retardation.The child was subjected to chromosomal microarray analysis (CMA) and targeted capture next-generation sequencing for the exons of genes related to genetic and metabolic diseases. Candidate variants were verified by Sanger sequencing of the child and his parents.CMA suggested that the child has a 47,XYY karyotype. Next-generation sequencing revealed that the child has harbored compound heterozygous variants of the AUH gene, including c.677GA (p.R226H) and c.373CT (p.R125W), which were respectively inherited from his parents. Based on the American college of Medical Genetics and Genomics (ACMG) standards and guidelines, the c.677GA (P.r226h) variant was predicted as variant of uncertain significance (PM2+PP4+PP3), whilst the c.373CT (P.R125W) variant was predicted as likely pathogenic (PM1+PM2+PP3+PP4).The child had XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I due to biallelic pathogenic variants of the AUH gene.
- Published
- 2022
5. Asymmetric synthesis of planar-chiral macrocycles
- Author
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Shaoze, Yu, Guosong, Shen, Faqian, He, and Xiaoyu, Yang
- Abstract
A novel enantioselective macrocyclization method has been developed for the asymmetric synthesis of planar-chiral macrocycles through chiral phosphoric acid-catalyzed intramolecular addition of the hydroxy group with the allenamide moiety. A series of planar-chiral macrocycles bearing various ring sizes (18-member to 22-member) and various functional groups were generated with good to high enantioselectivities.
- Published
- 2022
6. The targeted exome sequencing strategy (NeoExome) for Chinese newborns with the pilot study of 3423 neonates
- Author
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Lin Zou, Ziyang Cao, Xiaoyan He, Dongjuan Wang, Maosheng Gu, Feng Suo, Rong Qiang, Ruixue Zhang, ChengRong Song, Xiaohua Wang, Bo Zhu, Donghua Cao, Haihua Yu, Yiping Qu, Guosong Shen, Jian Wu, Xiaobin Wang, Zhengyu Jin, Pengpeng Wang, Jinxia Wang, Hongyang Zhang, Zijun Yan, and Guangjun Yu
- Abstract
Newborn screening (NBS) is an effective way for 3-step prevention of birth defects. The suitable technology and rational NBS screening diseases are critical for each country and area. High-throughput sequencing has shown high application potential in NBS. However, lack of sequencing strategy for monogenic inherited diseases NBS in China. In this study, we systematically evaluated the application efficiency of different sequencing approaches for NBS, and a gene-disease association list (NeoExome panel) for the Chinese population with 601 genes was designed based on the top rare disease list and databases. In the 1000 Genomes Project, 7.6% (23/301) were NGS positive. Among the 3249 neonates recruited, NGS positive rate was 12.0%. In the 200 conventional NBS (+) subgroup, 118 were NGS positive, with 76.3% (90/118) neonates harboring consistent results of conventional NBS and NGS; in the conventional NBS (-) subgroup, the NGS positive rate was 8.9% (271/3049). Our study designed a personal NBS targeted-sequencing NeoExome panel of monogenic inherited diseases for Chinese, which has shown acceptable performance.
- Published
- 2022
7. A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing
- Author
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Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, and Xueping Shen
- Subjects
musculoskeletal diseases ,Genetics ,Molecular Medicine ,Genetics (clinical) - Abstract
Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation sequencing. To confirm the pathogenicity of the variant, we generated an appropriate minigene construct based on HeLa and HEK293T cell lines. Splicing assay indicated that the mutated minigene led to aberrant splicing of COL2A1 pre-mRNA and produced an alternatively spliced transcript with a skipping of partial exon 48, which generated a predicted in-frame deletion of 15 amino acids (p. Gly1131_Pro1145del) in the COL2A1 protein. Due to the pathogenicity of the variation, we performed prenatal diagnosis on the proband’s wife, which indicated that the fetus carried the same mutation.
- Published
- 2022
8. A Novel Mutation c.3392GT of
- Author
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Lihong, Fan, Longfei, Ji, Yuqing, Xu, Guosong, Shen, Kefeng, Tang, Zhi, Li, Sisi, Ye, and Xueping, Shen
- Abstract
Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in
- Published
- 2021
9. [Analysis of pathogenic variants of USH2A gene in a child with Usher syndrome type II]
- Author
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Kefeng, Tang, Liyan, Jiang, Juan, Yao, Sheng, Yang, and Guosong, Shen
- Subjects
Extracellular Matrix Proteins ,Humans ,Family ,Exons ,Child ,Usher Syndromes ,Introns ,United States - Abstract
To detect pathogenic variant in a child featuring Usher syndrome type II.Peripheral blood samples of the child and his parents were collected for the analysis of variants of hearing impairment-related genes. The findings were verified in 100 individuals with normal hearing.The child was found to harbor compound heterozygous variants of the USH2A gene, namely c.8224-1GC in intron 41 and c.5678CG(p.Ser1893X) in exon 28, which were inherited respectively from his mother and father. Based on the American College of Medical Genetics and Genomics standards and guidelines, both c.8224-1GC and c.5678CG(p.Ser1893X) variants of USH2A gene were predicted to be pathogenic(PVS1+PM2+PM3).The compound heterozygous variants c.8224-1GC and c.5678CG of the USH2A gene probably underlay the disease in this child. Above finding has enriched the spectrum of USH2A gene variants.
- Published
- 2021
10. [Prenatal diagnosis of a fetus with chromosome 18p deletion and duplication]
- Author
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Wenwen, Li, Huifen, Shao, Juan, Yao, Chunxia, Shi, Xinmiao, Yang, Jinghui, Zhang, Xinli, Zhang, and Guosong, Shen
- Subjects
Fetus ,Pregnancy ,Karyotyping ,Prenatal Diagnosis ,Humans ,Female ,Chromosome Deletion ,Chromosomes - Abstract
To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
- Published
- 2021
11. Iron sulfur clusters in protein nanocages for photocatalytic hydrogen generation in acidic aqueous solutions
- Author
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Weijian Chen, Fan Zhu, Xiantao Hu, Fude Feng, Shuyi Li, Chi Zhang, Xiao Li, and Guosong Shen
- Subjects
Aqueous solution ,010405 organic chemistry ,Chemistry ,Supramolecular chemistry ,chemistry.chemical_element ,General Chemistry ,010402 general chemistry ,Photochemistry ,01 natural sciences ,Sulfur ,0104 chemical sciences ,Catalysis ,Nanocages ,Photocatalysis ,Moiety ,Hydrogen production - Abstract
We took advantage of the iron binding affinity of apoferritin to immobilize iron–sulfur clusters into apoferritin up to 312 moieties per protein, with a loading rate as high as 25 wt%. The photocatalytic hydrogen generation activity in acidic aqueous solutions was achieved with TONs up to 31 (based on a single catalyst moiety) or 8.3 × 103 (based on a single protein) upon 3 h of visible light irradiation. The present study provides a versatile strategy to construct uniform protein/photocatalyst supramolecular systems with FeFe-H2ase activity.
- Published
- 2019
12. [Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes]
- Author
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Wenwen, Li, Rong, Fang, Xueping, Shen, Juan, Yao, Jianying, Xue, and Guosong, Shen
- Subjects
Male ,Fetus ,Pregnancy ,Prenatal Diagnosis ,Chromosome Duplication ,Humans ,Female ,Polymorphism, Single Nucleotide ,In Situ Hybridization, Fluorescence ,Translocation, Genetic - Abstract
To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in three fetuses.The three fetuses were predicted to have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). G-banding chromosomal karyotyping analysis were carried out on amniotic fluid samples of the fetuses and peripheral blood samples from their parents. Single nucleotide polymorphism array (SNP-array) was used to determine the origin, size and genetic effect of sSMCs.In fetus 1, SNP array has detected two microduplications respectively at 4p16.3p15.2 (24.7 Mb) and 18p11.32q11.2 (20.5 Mb) which, as verified by fluorescence in situ hybridization (FISH), have derived from a balanced 46,XY,t(4;18)(p15.2q11.2) translocation carried by its father. Fetus 2 has carried a de novo microduplication of 15q11.2-q13.3 (9.7 Mb). The sequence of SMC in fetus 3 has derived from 21q11.2-q21.1 (8.3 Mb), which was inherited from its mother.Both NIPT and SNP-array are highly accurate for the detection of sSMC. SNP-array can delineate the origin and size of abnormal chromosomes, which in turn can help with clarification of sSMC-related genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
- Published
- 2020
13. [Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome]
- Author
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Kefeng, Tang, Xueping, Shen, Yan, Shu, Juan, Yao, and Guosong, Shen
- Subjects
Arthrogryposis ,Male ,Troponin T ,Pregnancy ,Prenatal Diagnosis ,Mutation ,Humans ,Female ,Genetic Testing ,Pedigree - Abstract
To provide genetic testing and prenatal diagnosis for a woman with Sheldon-Hall syndrome.The woman was subjected to targeted capture and next-generation sequencing for variant of genes associated with skeletal disorders. And the result was verified in her parents and fetus.The woman was found to harbor a c.188GA variant of the TNNT3 gene, which was also found in her affected mother and the fetus. Her grandmother and grandmother's brother had similar manifestations, which was in line with an autosomal dominant inheritance. The same variant was not found in her father.The c.188GA variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.
- Published
- 2020
14. [Genetic analysis of a child with global developmental delay and neurofibromatosis type 1]
- Author
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Xinli, Zhang, Guosong, Shen, and Jun, Zhang
- Subjects
Neurofibromatosis 1 ,Phenotype ,Cafe-au-Lait Spots ,Developmental Disabilities ,Genes, Neurofibromatosis 1 ,Humans ,Female ,Genetic Testing ,Child - Abstract
To explore the genetic basis for a child with global developmental delay and neurofibromatosis type 1 (NF1).The patient underwent clinical examination. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants.The child had cafe au lait spots all over her body, pigmentation in the back, and global developmental delay as assessed by Gese II. Cranial MRI revealed globular abnormal density in the lower hemisphere of left posterior cranial fossa. WES detected a novel variant of the NF1 gene, c.6513-6515del (p.Tyr2171), which was strongly correlated with her clinical phenotype. The same variant was not found in either parent and was unreported previously.The c.3842TG variant of the NF1 gene probably underlay the NF1 and global developmental delay in this child, for whom prompt symptomatic treatment and regular follow-up were recommended.
- Published
- 2020
15. [Identification of LINS1 gene variant in a patient with severe mental retardation]
- Author
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Xinli, Zhang, Liming, Pan, and Guosong, Shen
- Subjects
Comparative Genomic Hybridization ,Intellectual Disability ,Homozygote ,High-Throughput Nucleotide Sequencing ,Humans ,Proteins ,Child - Abstract
To explore the genetic basis of a child with idiopathic mental retardation.Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.
- Published
- 2020
16. [Analysis of SYNE1 gene variant in an infant featuring epilepsy and developmental disorders]
- Author
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Xinli, Zhang, Xueping, Shen, Liming, Pan, Fengfeng, Qi, and Guosong, Shen
- Subjects
Male ,Cytoskeletal Proteins ,Epilepsy ,Seizures ,Child, Preschool ,Developmental Disabilities ,Intellectual Disability ,Mutation ,Humans ,Infant ,Nuclear Proteins ,Nerve Tissue Proteins - Abstract
To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.
- Published
- 2019
17. [Genetic analysis and prenatal diagnosis for a pedigree affected with X-linked Norrie disease]
- Author
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Xinmiao, Yang, Wenwen, Li, Xueping, Shen, Huifen, Shao, and Guosong, Shen
- Subjects
Pregnancy ,Prenatal Diagnosis ,Retinal Degeneration ,Humans ,Female ,Genetic Diseases, X-Linked ,Nerve Tissue Proteins ,Nervous System Diseases ,Blindness ,Eye Proteins ,Spasms, Infantile ,Pedigree - Abstract
To detect mutation of NDP gene in a pedigree affected with Norrie disease.Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.Sanger sequencing has revealed a c.2TC (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.The c.2TC mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
- Published
- 2019
18. A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age
- Author
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Shi-ming Lü, Yan Zeng, Zhengyou Miao, Yuning Zhu, Guosong Shen, Shaohua Tang, Hua Wang, Zhiyang Chen, Weihua Yan, Zhengfeng Xu, Liangpu Xu, Bao-Sheng Zhu, He Wang, and Xu-ming Bian
- Subjects
Adult ,China ,medicine.medical_specialty ,Trisomy 13 Syndrome ,Genetic counseling ,Chromosome Disorders ,Trisomy ,Prenatal diagnosis ,advanced maternal age ,lcsh:Gynecology and obstetrics ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Obstetrics and Gynaecology ,medicine ,Humans ,030212 general & internal medicine ,Advanced maternal age ,Sex Chromosome Aberrations ,lcsh:RG1-991 ,Retrospective Studies ,Chromosome Aberrations ,Gynecology ,Fetus ,030219 obstetrics & reproductive medicine ,genetic counseling ,prenatal diagnosis ,Chromosomes, Human, Pair 13 ,medicine.diagnostic_test ,business.industry ,Incidence ,Incidence (epidemiology) ,Obstetrics and Gynecology ,amniotic fluid ,Middle Aged ,medicine.disease ,clinically significant chromosome abnormalities ,Karyotyping ,Pregnancy Trimester, Second ,Amniocentesis ,Chromosome abnormality ,Female ,Down Syndrome ,Chromosomes, Human, Pair 18 ,business ,Trisomy 18 Syndrome ,Maternal Age - Abstract
Objective: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate prenatal screening and diagnostic technologies. Materials and Methods: Second trimester amniocentesis and fetal karyotype results of 46,258 women were retrospectively reviewed. All women were ≥ 35 years old with singleton pregnancies. The rates of clinically significant chromosomal abnormalities (CSCAs), incidence of chromosomal abnormalities, and correlations with age were determined. Results: From 2001 to 2010, the proportion of women of advanced maternal age undergoing prenatal diagnosis increased from 20% to 46%. The mean age was 37.4 years (range, 35–46 years). A total of 708 cases of CSCAs, with a rate of 1.53% were found. Trisomy 21 was the most common single chromosome abnormality and accounted for 55.9% of all CSCAs with an incidence of 0.86%. Trisomy 13, trisomy 18, and trisomy 21, the most common chromosome autosomal aneuploidies, accounted for 73.6% of all CSCAs, with a rate of 1.13%. As a group, the most common chromosomal aneuploidies (13/18/21/X/Y) accounted for 93.9% of all abnormalities, with a rate of 1.44%. The incidence of trisomy 21, trisomy 13/18/21 as a group, and 13/18/21/X/Y as a group was significantly greater in women aged 39 years and older (p
- Published
- 2016
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19. [Pre-implantation genetic screening of discarded embryos through whole genome amplification and next-generation sequencing]
- Author
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Yurong, Zhu, Chunling, Liu, Sheng, Yang, Peng, Liu, and Guosong, Shen
- Subjects
Adult ,Chromosome Aberrations ,Fetal Diseases ,Blastocyst ,Pregnancy ,Aborted Fetus ,High-Throughput Nucleotide Sequencing ,Humans ,Female ,Fertilization in Vitro ,Genetic Testing ,Preimplantation Diagnosis - Abstract
To assess the value of whole-genome amplification (WGA) and next generation sequencing (NGS) for the pre-implantation screening of discarded embryos.In total 476 discarded embryos were collected. After continued culture, 23 high-quality blastocysts were obtained. Blastocysts graded as 4BC or above based on Gardner classification were subjected for blastula biopsy. Five to ten nourish ectoderm cells were hatched with a biopsy needle. Following WGA and NGS, deletion and/or duplication of chromosomal fragments and numerical chromosomal aberrations were analyzed.In total 148 trophoblast cells were obtained from the 23 blastocysts. Following WGA, 60 amplification products were selected for NGS. The results showed that there were 39 abnormal chromosomes derived from 14 blastocysts, which gave an abnormal rate of blastocyst of 60.87% (14/23).WGA combined with NGS can enable pre-implantation genetic screening for discarded embryos, which may improve the efficacy of in vitro fertilization as well as reduce the risk for birth defects.
- Published
- 2018
20. [Genetic analysis of two cases with Dandy-Walker deformed fetus]
- Author
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Juan, Yao, Rong, Fang, Xueping, Shen, Guosong, Shen, and Su, Zhang
- Subjects
Adult ,Pregnancy ,Prenatal Diagnosis ,Humans ,Female ,Chromosome Deletion ,Dandy-Walker Syndrome ,Polymorphism, Single Nucleotide ,Chromosome Banding - Abstract
To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.Alteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.
- Published
- 2017
21. Nutrient Status of Vitamin D among Chinese Children
- Author
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Guosong Shen, Hongwei Xu, Shuying Jiang, Zhaopin Wang, Yunxian Yu, Shuojia Wang, Su Zhang, and Minchao Li
- Subjects
0301 basic medicine ,Vitamin ,Male ,Pediatrics ,medicine.medical_specialty ,China ,Adolescent ,Cross-sectional study ,Nutritional Status ,vitamin D ,vitamin D deficiency ,Article ,03 medical and health sciences ,Health examination ,chemistry.chemical_compound ,0302 clinical medicine ,Nutrient ,children ,Risk Factors ,medicine ,Vitamin D and neurology ,Prevalence ,Humans ,030212 general & internal medicine ,Child ,Child care ,030109 nutrition & dietetics ,Nutrition and Dietetics ,business.industry ,Age Factors ,Infant, Newborn ,Infant ,Nutritional status ,deficiency ,Vitamins ,medicine.disease ,Vitamin D Deficiency ,insufficiency ,Cross-Sectional Studies ,chemistry ,adolescent ,Child, Preschool ,Sunlight ,Female ,Seasons ,business ,Food Science - Abstract
Background: Vitamin D deficiency is considered to be a public health problem. However, the nutrient status of vitamin D in Chinese children is unclear. The aim of this study was to describe the vitamin D status among children aged under 18 years in southeast China. Methods: Children who visited the Huzhou Maternal and Child Care Hospital from January 2012 to August 2015 were included in this large cross-sectional study. Serum 25-hydroxyvitamin D (25(OH)D) concentrations were measured by electrochemiluminescence immunoassay. Vitamin D status was defined as deficiency (25(OH)D < 20 ng/mL), insufficiency (25(OH)D: 20–29 ng/mL) and sufficiency (25(OH)D ≥ 30 ng/mL). The association between relevant variables and vitamin D status was analyzed by a using generalized estimated equation model and a multivariate regression model. Results: 13,997 children aged under 18 years were included. Of these, 23.3% children suffered from low vitamin D status (deficiency and insufficiency), while 76.7% had a sufficient vitamin D status. The prevalence of low vitamin D status was 29.7% in winter and 23.4% in spring, which was higher than that in summer (21.4%) and autumn (19.9%). Clinical visiting children (32.1%) suffered more from low vitamin D than health examination children (17.6%). Additionally, age and season were independently and significantly associated with 25(OH)D concentrations, respectively. Conclusions: The deficiency and insufficiency status of vitamin D was very common among newborns and children aged one to 17 years. This indicates that more sunshine and vitamin D–fortified foods are necessary among Chinese children.
- Published
- 2017
22. Overexpression of Uridine-Cytidine Kinase 2 Correlates with Breast Cancer Progression and Poor Prognosis
- Author
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Pingya He, Peipei Li, Xiyong Liu, Yun Yen, Guosong Shen, Frank Luh, Guohui Ding, and Yingying Mao
- Subjects
0301 basic medicine ,Oncology ,Cancer Research ,medicine.medical_specialty ,Uridine-cytidine kinase 2 ,Microarray ,Estrogen receptor ,Metastasis ,Biological pathway ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Internal medicine ,Gene expression ,medicine ,business.industry ,Kinase ,Cancer ,medicine.disease ,Prognosis ,030104 developmental biology ,030220 oncology & carcinogenesis ,Original Article ,Breast neoplasms ,business ,Biomarkers - Abstract
PURPOSE Uridine-cytidine kinase (UCK) 2 is a rate-limiting enzyme involved in the salvage pathway of pyrimidine-nucleotide biosynthesis. Recent studies have shown that UCK2 is overexpressed in many types of cancer and may play a crucial role in activating antitumor prodrugs in human cancer cells. In the current study, we evaluated the potential prognostic value of UCK2 in breast cancer. METHODS We searched public databases to explore associations between UCK2 gene expression and clinical parameters in patients with breast cancer. Gene set enrichment analysis (GSEA) was performed to identify biological pathways associated with UCK2 gene expression levels. Survival analyses were performed using 10 independent large-scale breast cancer microarray datasets. RESULTS We found that UCK2 mRNA expression was elevated in breast cancer tissue compared with adjacent nontumorous tissue or breast tissue from healthy controls. High UCK2 levels were correlated with estrogen receptor negativity (p
- Published
- 2016
23. [Analysis on common virus pathogens in 6089 hospitalized children with respiratory tract infection]
- Author
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Yao, Juan, Guosong, Shen, Lihong, Fan, and Wenwen, Li
- Subjects
Humans ,Child ,Child, Hospitalized ,Respiratory Tract Infections - Published
- 2015
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