Unusual hyperpigmented patches,an undeveloped breast and a cataract in a female with incontinentia pigmenti

A 19‐year‐old female and her mother visited our department with a history of unusual reticular brown‐black patches on their trunks and limbs since infancy. Besides the obviously fulsome hyperpigmentation, the daughter also showed other unusual clinical manifestations such as generalized hypohidrosis, especially on the hyperpigmented patches, cicatricial alopecia, a cataract on her right eye, abnormal teeth and a right dysplastic breast. The mother had a median diastema between her maxillary central incisors, hypoplasia of the enamel, hypohidrosis and hyperpigmented patches on her left thoracic region. Analysis of the NEMO (NF‐κB essential modulator) gene in the patient and her mother revealed a deletion of exons 4–10. Their EDA and EDAR genes were normal.     

Immunohistochemical localization of steroid receptor coactivators in chondrosarcoma: An in vivo tissue microarray study

Chondrosarcoma is the second most common type of primary bone malignancy following up osteosarcoma, characterized by resistance to conventional chemotherapeutic agents and radiation regimens. The p160 family members steroid receptor coactivator-1 and -3 (SRC-1 and SRC-3) have been implied in the regulation of cancer growth, migration, invasion, metastasis and chemotherapeutic resistance; but we still lack detailed information about the levels of SRCs in chondrosarcoma. In this study, expression of SRC-1 and SRC-3 in chondrosarcoma was examined by immunohistochemistry with tissue microarrays; the four score system (0, 1, 2 and 3) was used to evaluate the staining. The results showed that there were no gender-, site- or age-differences regarding the expression of SRC-1 or SRC-3 (p > 0.05); organ (bone or cartilage) -differences were only detected for SRC-1 but not SRC-3 (p < 0.05). Significant higher levels of SRC-1 and SRC-3 were detected in MDC and PDC when compared to WDC. Our study clearly demonstrated differentiation-dependant expression of SRC-1 and SRC-3 in chondrosarcoma, may be novel targets for the prognosis and/or treatment of chondrosarcoma, would have opened a new avenue and established foundation for studying chondrosarcoma.     

Causality assessment of circulating Vitamin D level on venous thromboembolism: A Mendelian randomization study

Background and aimsThe associations of vitamin D level with venous thromboembolism (VTE) reported in observational studies, whereas these causal associations were uncertain in European population. Therefore, we used Mendelian randomization (MR) method to explore the causal associations between 25-hydroxyvitamin D (25(OH)D) concentrations and the risk of VTE and its subtypes [including deep vein thrombosis (DVT) and pulmonary embolism (PE)].Methods and resultsWe used three kinds of genetic instruments to proxy the exposure of 25(OH)D, including genetic variants significantly associated with 25(OH)D, expression quantitative trait loci of 25(OH)D target genes, and genetic variants within or nearby 25(OH)D target genes. MR analyses did not provide any evidence for the associations of 25(OH)D levels with VTE and its subtypes (p > 0.05). The summary-data-based MR (SMR) analyses indicated that elevated expression of VDR was associated with decreased risk of VTE (OR = 0.81; 95% CI, 0.65–0.998; p = 0.047) and PE (OR = 0.67; 95% CI, 0.50–0.91; p = 0.011), and expression of AMDHD1 was associated with PE (OR = 0.93; 95% CI, 0.88–0.99; p = 0.027). MR analysis provided a significant causal effect of 25(OH)D level mediated by gene AMDHD1 on PE risk (OR = 0.09; 95% CI, 0.01–0.60; p = 0.012).ConclusionOur MR analysis did not support causal association of 25(OH)D level with the risk of VTE and its subtypes. In addition, the expression of VDR and AMDHD1 involved in vitamin D metabolism showed a strong association with VTE or PE and might represent targets for these conditions.     

Evaluation of adalimumab biosimilar candidate (HS016) in Chinese patients with active ankylosing spondylitis based on a health survey: sub-analysis of a phase 3 study

Clinical Rheumatology - The equivalence of the biosimilar HS016 to adalimumab (Humira) for the treatment of active ankylosing spondylitis (AS) patients has been previously validated. The aim was to...     

阿托伐他汀钙对老老年高血压合并高脂血症患者的降脂作用及安全性观察

目的 探讨阿托伐他汀钙在老老年高血压合并高脂血症患者中的降脂作用及安全性.方法 选择68例老老年患者,均服用阿托伐他汀钙20 mg(每晚1次),观察服药前后血脂、肝肾功能及肌酸激酶的变化情况.结果 与治疗前比较,治疗后患者的甘油三脂(TG)、总胆固醇(TCH)、低密度脂蛋白胆固醇(LDL-C)水平降低,高密度脂蛋白胆固醇(HDL-C)水平升高,患者的丙氨酸氨基转移酶(ALT)、天冬氨酸氨基转移酶(AST)、肌酐(Cr)、尿素氮(BUN)、肌酸激酶(CK)无明显变化.结论 老老年高血压合并高脂血症患者应用阿托伐他汀钙降脂作用明显,且安全性较好.