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1.
Background: Identification of germline and somatic BRCA1/2 mutations in ovarian cancer is important for genetic counseling and treatment decision making with poly ADP ribose polymerase inhibitors. Unfortunately, data on the frequency of BRCA1/2 mutations in Vietnamese patients are scare. Methods: We aim to explore the occurrence of BRCA1/2 mutations in 101 Vietnamese patients with ovarian cancer including serous (n = 58), endometrioid (n = 14), mucinous (n = 24), and clear cell (n = 5) carcinomas. BRCA1/2 mutations were detected from formalin-fixed parafin-embedded tumor samples using the OncomineTM BRCA Research Assay on Personal Genome Machine Platform with Ion Reporter Software for sequencing data analysis. The presence of pathogenic mutations was confirmed by Sanger sequencing. Results: We found no BRCA2 mutation in the entire cohort. Four types of pathogenic mutations in BRCA1 (Ser454Ter, Gln541Ter, Arg1751Ter, and Gln1779AsnfsTer14) were detected in 8 unrelated patients (7.9%) belonging to serous and endometrioid carcinoma groups. Except for the c.1360_1361delAG (Ser454Ter) mutation in BRCA1 exon 11 that was somatic, the other mutations in exons 11, 20, and 22 were germline.  Interestingly, the recurrent Arg1751Ter mutation in BRCA1 exon 20 appeared in 4 patients, suggesting that this is a founder mutation in Vietnamese patients. Conclusion: Mutational analysis of tumor tissue using next generation sequencing allowed the detection of both germline and somatic BRCA1/2 mutations.  相似文献   
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Salivary glands tumours are uncommon tumours showing a large diversity of histological types. This article presents a synthesis of patterns and paths of invasion of parotid glands tumours in order to propose an approach of the delineation of primary tumour clinical target volumes and of the selection of lymph nodes target volumes. This article does not discuss treatment indications but defines clinical target volumes to treat if radiotherapy is indicated. Postoperative situation being the most frequent, the delineation of primary tumour clinical target volume is based on an anatomical approach.  相似文献   
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This article provides a proposal for the selection and delineation of clinical target volumes for the treatment with radiation of submandibular glands tumours. This article does not deal with external radiotherapy indications but specifies the volumes to be treated if radiotherapy is chosen. High-risk and low-risk peritumoral clinical target volumes are described based on the probability of local tumoral spread. High-risk and low-risk clinical target volumes are illustrated on CT-scan slices. A proposal for the selection of nodal clinical target volumeis also proposed.  相似文献   
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Theories of adult brain development, based on neuropsychological test results and structural neuroimaging, suggest differential rates of age‐related change in function across cortical and subcortical sub‐regions. However, it remains unclear if these trends also extend to the aging dopamine system. Here we examined cross‐sectional adult age differences in estimates of D2‐like receptor binding potential across several cortical and subcortical brain regions using PET imaging and the radiotracer [18F]Fallypride in two samples of healthy human adults (combined N = 132). After accounting for regional differences in overall radioligand binding, estimated percent difference in receptor binding potential by decade (linear effects) were highest in most temporal and frontal cortical regions (~6–16% per decade), moderate in parahippocampal gyrus, pregenual frontal cortex, fusiform gyrus, caudate, putamen, thalamus, and amygdala (~3–5%), and weakest in subcallosal frontal cortex, ventral striatum, pallidum, and hippocampus (~0–2%). Some regions showed linear effects of age while many showed curvilinear effects such that binding potential declined from young adulthood to middle age and then was relatively stable until old age. Overall, these data indicate that the rate and pattern of decline in D2 receptor availability is regionally heterogeneous. However, the differences across regions were challenging to organize within existing theories of brain development and did not show the same pattern of regional change that has been observed in gray matter volume, white matter integrity, or cognitive performance. This variation suggests that existing theories of adult brain development may need to be modified to better account for the spatial dynamics of dopaminergic system aging.  相似文献   
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目的 汉化进食障碍患者家庭顺应量表,并检验其信效度。方法 根据Brislin翻译模式将量表翻译成中文,通过专家函询和预调查对量表进行文化调适和修订。将量表应用于300例进食障碍患者照顾者检验信效度。结果 中文版进食障碍患者家庭顺应量表的量表水平内容效度指数为0.918。探索性因子分析结果显示5个因子可解释总变异量的49.862%。量表的各维度得分与量表总分呈中高度相关,各维度得分之间呈中低度相关或不相关。量表总Cronbach′s α为0.877,重测信度为0.883。结论 中文版进食障碍患者家庭顺应量表具有较好的信效度,可用于测量进食障碍患者的家庭顺应情况。  相似文献   
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BACKGROUND CONTEXT

Both open surgical resection (OSR) and radiofrequency ablation (RFA) have been reported for spinal osteoid osteoma (OO).

PURPOSE

To verify the clinical safety and efficiency of RFA with OSR in treating spinal OO.

STUDY DESIGN

Retrospective cohort study.

PATIENT SAMPLE

Twenty-eight consecutive patients with spinal OO who underwent either RFA or OSR in our institute between September 2006 and December 2016.

OUTCOME MEASURES

The age, gender, lesion distribution, surgical time, estimated blood loss, complications, local recurrence, visual analogue scale (VAS), and the modified Frankel grade were documented.

METHODS

We retrospectively reviewed 28 patients with spinal OO who had been treated in our hospital from September 2006 to December 2016. Patients were followed at 3, 6, 12, and 24 months after the index surgery. The minimum follow-up period was 12 months. This study was funded by Peking University Third Hospital (Y71508-01) (¥ 400,000).

RESULTS

Twelve and 16 patients were treated with CT-guided percutaneous RFA and OSR, respectively. Spinal OO locations were cervical in 4, thoracic in 4, lumbar in 3, and sacral vertebra in 1 in the RFA group and cervical in 12, thoracic in 1, and lumber in 3 in the OSR group. RFA showed shorter operating time, less blood loss, and less in-hospital stay than open surgery [105.0 ± 33.8 minutes vs. 186.4 ± 53.5 minutes (p < .001), 1 (0 to 5) ml vs. 125 (30–1200) ml (p < .001) and 1 (1–3) days vs. 6 (3–10) days (p < .001), respectively]. At last follow-up, one patient underwent a secondary RFA for recurrence. VAS improvement was 7.5 (3–10) and 6.5 (4–9) (p = .945) in the RFA and OSR groups, respectively. The overall complication rate was 8.3% (1/12) and 18.8% (3/16) in the RFA and OSR groups, respectively.

CONCLUSIONS

If there is sufficient cerebrospinal fluid between the spinal OO lesion and spinal cord/nerve root (more than 1 mm), RFA is effective and safe for treatment of well-selected spinal OO, showing reduced operating time, blood loss, in-hospital stay, and complications compared to OSR. However, OSR is still recommended in cases with spinal cord/nerve root compression.  相似文献   
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