47例不明原因婴儿期癫癎性脑病的基因突变分析

目的 探讨不明原因婴儿期癫癎性脑病（EE）的基因突变特点。方法 以47例不明原因婴儿期EE患儿为研究对象，利用二代测序技术对所有患儿及其父母进行基因突变分析。结果 47例患儿中23例检出基因突变，其中13例为新发突变、10例为父亲或母亲存在杂合突变。23例基因突变阳性患儿中，17例检出EE相关基因突变（14例为离子通道类基因突变），2例检出先天性遗传代谢病相关基因突变，2例检出脑结构异常相关基因突变，2例检出精神智力发育迟滞相关基因突变。结论 婴儿期EE可能存在基因突变，以离子通道类基因突变为主。     

Identification of Genes Differentially Expressed in Cultured Human Osteoblasts Versus Human Fibroblasts by DNA Microarray Analysis

Little is known about patterns of gene expression from cells populating the connective tissues. This study investigated the possible variance of gene expression profile between human osteoblasts (HO) and human fibroblasts (HF) in vitro, using DNA microarray technology. Clustering identification was used to compare expression patterns between HO and HF for biological significance. Our results showed that genes encoding the extracellular matrix or apoptosis-related proteins tended to be expressed in greater abundance in HO, while more proteolysis-related proteins were expressed in higher level in HF. Significant differences in expression were also noted with genes related to signaling pathways. To confirm the array results, three genes (periostin, MFG-E8, MMP-10) were selected and analyzed independently by RT-PCR and northern blot. The results were found consistent with the array data in HO and HF. The present findings suggest that HO and HF differ not only phenotypically but in the expression level of tissue specific genes to assure the turnover and homeostasis of their respective tissues.     

Evaluation of human epidermal growth factor receptor 2 (HER2) single nucleotide polymorphisms (SNPs) in normal and breast tumor tissues and their link with breast cancer prognostic factors

Amplification of the human epidermal growth factor receptor 2 (HER2) gene is associated with worse prognosis and decreased overall survival in breast cancer patients. The HER2 gene contains several polymorphisms; two of the best-characterized HER2 polymorphisms are Ile655Val and Ala1170Pro. The aim of this study was to evaluate the association between these two HER2 polymorphisms in normal breast and breast cancer tissues and known breast cancer prognostic factors in a retrospective cohort study of 73 women with non-metastatic HER2-positive breast cancer. HER2 polymorphisms were assessed in breast cancer tissue and normal breast tissue using TaqMan assay. Ala1170Pro polymorphism in normal breast tissue was associated with age at diagnosis (p = 0.007), tumor size (p = 0.004) and lymphovascular invasion (p = 0.06). Similar significant associations in cancer tissues were observed. No association between the Ile655Val polymorphism and prognostic factors were observed. However, we found significant differences in the distribution of Ile655Val (p = 0.03) and Ala1170Pro (p = 0.01) genotypes between normal breast and breast tumor tissues. This study demonstrates that only the Ala1170Pro polymorphism is associated with prognostic factors in HER2-positive breast cancer patients. Moreover, our results suggest that both HER2 polymorphisms could play a significant role in carcinogenesis in non-metastatic HER2-positive breast cancer women.     

Effect of Exercise on Taxane Chemotherapy–Induced Peripheral Neuropathy in Women With Breast Cancer: A Randomized Controlled Trial

BackgroundChemotherapy-induced peripheral neuropathy (CIPN) is a dose-limiting adverse effect of taxanes. We sought to evaluate the effect of exercise on taxane CIPN in women with breast cancer.Patients and MethodsWomen (n = 27) were randomized to immediate exercise (IE, during taxane chemotherapy) or delayed exercise (DE, after chemotherapy). Supervised aerobic, resistance, and balance training was offered 3 days a week for 8-12 weeks. CIPN symptoms and quality of life were assessed using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ) C30 and CIPN20 (scored from 0 to 100). The percentage of participants reporting moderate to severe sensory symptoms (‘3/4’ or ‘4/4’ for CIPN20 sensory items) was also evaluated, along with clinical sensory testing at the lower limb (vibration sense and pinprick). Taxane treatment adherence, including relative dose intensity, was extracted from patient medical records. Assessments occurred at: baseline (before taxane chemotherapy), pre-cycle 4 (before the final taxane cycle), the end of chemotherapy, and follow-up (10-15 weeks after chemotherapy).ResultsNo differences in the EORTC QLQ CIPN20 symptom scores were detected between groups at any time point. At pre-cycle 4, there was a significant difference between groups in patient-reported moderate to severe numbness in the toes or feet (IE: n = 1, 9%, DE: n = 7, 50%, P = .04) and impaired vibration sense in the feet (IE: n = 2, 18%, DE: n = 10, 83%, P < .01). Overall global health status/quality of life was higher in IE compared to DE at the end of chemotherapy (P = .05), yet both groups had worse CIPN20 sensory (Δ24.3 ± 4.6, P < .01) and motor symptom scores (Δ10.5 ± 1.9, P < .01) relative to baseline. By the end of chemotherapy, no differences between groups were found for moderate to severe numbness in the toes or feet (P = 1.0) or impaired vibration sense in the feet (P = .71). More IE participants received ≥ 85% relative dose intensity (IE: n = 12, 100%, DE: n = 10, 67%, P < .05).ConclusionExercise may attenuate CIPN over the course of taxane chemotherapy and possibly improve taxane adherence in women with breast cancer. These findings, as well as whether exercise can attenuate CIPN by the end of taxane chemotherapy, should be confirmed in larger trials.     

局部晚期非小细胞肺癌放疗剂量提升研究进展

局部晚期非小细胞肺癌的RTOG0617研究显示进一步提高放疗剂量并没有带来生存获益,这促进了剂量提升策略的改变。目前多项研究通¹⁸FDG高摄取区域局部加量、同步加量调强放疗、改变剂量分割模式等探索更为有效的剂量提升手段,并取得一系列进展。PET-CT技术及调强放疗技术的广泛应用,为放疗剂量优化和提升提供了广阔空间。