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.

These findings may assist in genetic counseling of advanced maternal age pregnant women, and provide a basis for the selection of prenatal screening and diagnostic technologies.

PurposeUridine-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.MethodsWe 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.ResultsWe 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<0.001), advanced tumor grade (p<0.001), and poor tumor differentiation (p<0.001). GSEA revealed that UCK2-high breast cancers were enriched for gene sets associated with metastasis, progenitor-like phenotypes, and poor prognosis. Multivariable Cox proportional hazards regression analyses of microarray datasets verified that high UCK2 gene expression was associated with poor overall survival in a dose-response manner. The prognostic power of UCK2 was superior to that of TNM staging and comparable to that of multiple gene signatures.ConclusionThese findings suggest that UCK2 may be a promising prognostic biomarker for patients with breast cancer.

Background Human papillomavirus (HPV) infection is involved in cervical cancer development, and hence understanding its prevalence and genotype distribution is important. However, there are few reports on the prevalence and genotype distribution of HPV in the city of Huzhou in China. Methods In this retrospective cross-sectional study, 11,506 women who visited Huzhou Maternity & Child Health Care Hospital between January 2018 and October 2019 were enrolled. The results of HPV genotyping and cytology tests were analyzed. Results The overall prevalence of HPV infection was 15.5%. The rate of high-risk (HR) HPV infection (13.5%) was higher than that of single low-risk (LR) HPV infection (2.0%) (p&lt;0.05). The five most common HPV genotypes were HPV52 (3.3%), 16 (1.9%), 58 (1.7%), 53 (1.5%), and 81 (1.2%). The infection rate of HPV peaked in women aged 16–24 and women aged ≥55. The infection rate of HPV58 or HPV81 appeared as a single peak in women aged ≥55. The rates of HR-HPV and LR-HPV infection were higher in subjects with abnormal cytology (p&lt;0.05). Conclusions HPV infection is high in Huzhou, and HPV53 and HPV81 are the prevalent genotypes. HPV infection rate is associated with age and cytology. Regional HPV surveillance is essential to optimize current HPV prevention and vaccine development.

Neural tube defect (NTD) is a serious congenital defect, but current methods for identifying NTD are limited. We used proteomic analysis of maternal serum to identify NTD-specific proteins whose levels differed between women with NTD fetuses (n = 50) and those with healthy fetuses (n = 40). Three NTD-specific protein peaks (8,130.6, 15,941.7, and 3,960.3 m/z) were identified using MALDI-TOF-mass spectrophotemetry, and were included in a diagnostic model developed using Biomarker Patterns software. The model used cut-offs for the relative intensity of the three peaks to indicate if a case had or did not have NTD. The model identified 48 of the 50 NTD cases and 36 of the 40 control cases correctly, resulting in the sensitivity of 96.0% (48/50) and the specificity of 90.0% (36/40). The diagnostic model was also tested on 105 clinical cases at high risk for NTD, as determined by having high alpha-fetoprotein levels, resulting in the sensitivity of 100% (101/101) and the specificity of 75.0% (3/4). Using the International Protein Index database, we identified proteins with a molecular mass of 8,130.6 Da as ADP-ribosylation factor 1 and a protein similar to cold agglutinin FS-1 antibody light-chain. The 15,941.7-Da peak corresponded to vitamin K3 protein, and the identity of the 3,960.3-Da protein was unclear. Thus, this study developed a diagnostic model consisting of the three peaks which may be indicators of NTD. This new assay may be at least as accurate for diagnosing NTD compared with the commonly used clinical test that assesses alphafetoprotein levels.

Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G &gt; 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.

The aim of the present study was to report the frequency of thalassemia traits and other hemoglobinopathies in Huzhou City, Zhejiang Province, People's Republic of China (PRC), and for the future management of hemoglobinopathies. A total of 8578 pregnant women in the Huzhou region was analyzed for thalassemia traits and other hemoglobinopathies from July 1 2012 to November 30 2015. Complete blood count (CBC), and hemoglobin (Hb) variant analyses were performed with automatic counters and capillary electrophoresis (CE). High resolution melting (HRM) analysis was applied for genetic diagnosis of thalassemia. The prevalence of patients with the α-thalassemia (α-thal) trait was 1.01% (87/8578). β-Thalassemia (β-thal) was carried by 112 women with a frequency of 1.3%. The carrier rate of thalassemia genes in the studied samples was nearly 2.32%. We excluded those without iron studies, with 159 cases as our sample, a total of 63/159 cases (39.6%) also had iron deficiencies. Moreover, Hb E (HBB: c.79G > A), and Hb D-Punjab (HBB: c.364G > C) were the most common Hb variants after thalassemia trait with frequencies of 0.16 and 0.06%, respectively. Only two Hb S (HBB: c.20A > T) carriers were detected in 20 months of screening time. Hb A results could be confidently reported on all cases except the Hb D-Punjab and Hb E variants. This study provided a detailed prevalence and molecular characterization of thalassemia in the Huzhou region, and will contribute toward the development of prevention strategies and reducing excessive health care costs in this area, allowing better management of hemoglobinopathies.

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.