The association of combined vitamin C and D deficiency with bone mineral density and vertebral fracture.

PURPOSE: Both vitamin C and D deficiencies are extremely common in clinical practice, especially in elderly population. Unfortunately, the role of vitamin C deficiency in osteoporosis related consequences is often neglected. The aim of the present study is to analyse if combined vitamin C and D deficiency would have an association with bone mineral density (BMD) and osteoporotic vertebral fracture (OVF). METHODS: Ninety-nine post-menopausal female patients admitted in the department of spine surgery of third affiliated hospital of Sun Yat-sen University were enrolled in the study. The participants were divided into four groups; vitamin D deficiency alone (comparator group), vitamin C deficiency alone and combined vitamin C and D deficiency as experimental group. The levels of vitamin C, vitamin D, calcium, phosphorous, BMD and condition of OVF were analysed. RESULTS: There were statistically significant differences between the groups in terms of vitamin C and D levels. In terms of lumbar BMD, significant differences were observed between vitamin D deficiency alone and combined vitamin C and D deficiency. Only the combined vitamin C and D deficiency had a significant negative association with lumbar BMD and T-score. Similarly, combined vitamin C and D deficiency had a significant positive association with lumbar osteoporosis. None of the groups had any significant association with OVF. Combined vitamin C and D deficiency was found to be significantly associated with lower lumbar BMD and osteoporosis. CONCLUSION: Combined vitamin C and D deficiency results in lower bone mineral density and higher risk of osteoporosis. We believe that existence of deficiencies of both vitamins could have a synergistic effect. Therefore, we recommend that vitamin C and D should be routinely measured in clinical practice.

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study.

INTRODUCTION: Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and poses a challenge to clinicians. METHODS: A foetus and a child from a 36-year-old pregnant woman with a birth history of abnormal children were enrolled in this study. Pregnant women undergo amniocentesis for prenatal diagnosis at the gestational age of 12+ 3 weeks. Chromosomal microarray (CMA) analysis and whole-exome sequencing (WES) were employed to investigate the chromosomal copy number and single gene variants. Literature retrieval and data analysis were performed for genotype and phenotype collection analysis. RESULTS: No chromosomal abnormalities or CNVs were detected in the entire family through karyotype and familial CMA analyses. WES identified a nonsense pathogenic variant in CLCN5 of the X chromosome, c.1942 C > T (exon 11, NM_000084), which was inherited from his mother, who exhibited regular clinical features. CONCLUSION: This study suggests that children with low-molecular-weight proteinuria and hypercalciuria should undergo prompt genetic testing to exclude Dent disease.

Accuracy of cytokeratin 19 fragment in the diagnosis of bladder cancer.

Aim: CYFRA21-1 is a biomarker of cancer and has a promising future in the diagnosis of bladder cancer. The purpose of this study was to assess the diagnostic accuracy of CYFRA21-1 for bladder cancer. Methods: We included articles from the Cochrane Library, Web of Science, PubMed and Embase. Meta-DiSc 1.4 and Stata 12.0 were used for data analysis. Results: Twenty-eight articles were analyzed, and the results are as follows: sensitivity, specificity, PLR, NLR, DOR and AUC were 0.69 (95% CI [0.67, 0.71]), 0.81 (95% CI [0.80, 0.83]), 5.99 (95% CI [4.42, 8.11]), 0.31 (95% CI [0.25, 0.38]), 24.58 (95% CI [15.15, 39.89]) and 0.8917, respectively. Conclusion: CYFRA21-1 has a high diagnostic efficiency for bladder cancer.