Turner syndrome is a sex chromosome disease with a female clinical phenotype.Most pa-tients are diagnosed in childhood or adolescence because of growth delays,and a small number of patients are diagnosed due to TS-related diseases.Women with Turner syndrome can develop hyper-tension in childhood and adolescence,and the prevalence of hypertension increases with age.The pathogenesis is unclear and may be multifactorial,similar to essential hypertension.In this review arti-cle,we explore possible mechanisms,blood pres-sure management,and treatment recommenda-tions for hypertension in patients with Turner syn-drome.

Adult ; Atherosclerosis ; Cardiovascular Diseases ; China ; Habits ; Humans ; Lipids

From 1987 to 2017, cardiovascular disease (CVD) had been ranking the first cause of death in Suzhou, and the mortality rate showed an upward trend annual percentage changes (APC=0.62%, P=0.001), while the standardized mortality rate showed a downward trend (APC=-2.65%, P<0.001). The probability of premature death of CVD declined consistently from 7.06% in 1987 to 2.00% in 2017 (APC=-4.45%, P<0.001). When the life expectancy was set at 70, the potential years of life lost rate (PYLLR) decreased from 6.35‰ in 1987 to 3.30‰ in 2017, and the standardized PYLLR decreased from 7.30‰ to 2.68‰. When the life expectancy was set at 75, the PYLLR decreased from 10.12‰ to 5.19‰, and the standardized PYLLR decreased from 11.44‰ to 3.88‰. With the increase of years, all PYLLR and standardized PYLLR showed a significantly downward trend (APC=-2.51%--3.89%, P<0.001).

Objective: To investigate the relationship between physical activity (PA) and the risk of incident hypertension among population in rural areas of China. Methods: The Community Intervention of Metabolic Syndrome in China & Chinese Family Health Study (CIMIC) was conducted in 2007-2008. Data on PA, smoking, drinking, blood pressure and other variables were obtained at baseline. Then the follow-up study of incident hypertension was performed during 2012-2015. A total of 41 457 participants aged ≥18 years and free from hypertension at baseline were included in the final analyses. PA was calculated as metabolic equivalent (MET) for each participant. Cox proportional hazard models were used to explore the relationship of PA with incident hypertension according to the quartiles of PA. Results: A total of 6 780 participants developed hypertension during an average follow up of 5.8 years. The annual incidence of hypertension was 2.80%. Compared to participants in the first quartile of PA, HR (95%CI) of incident hypertension decreased with the level of PA of 0.92 (0.86, 0.99), 0.72 (0.67, 0.77) and 0.70 (0.65, 0.75) for the 2^nd, 3^rd and 4^th quartile, respectively (P_trend<0.001). In subgroup analyses, compared to the first quartile, hazards of hypertension among normotensive participants (systolic blood pressure less than 120 mmHg (1 mmHg=0.133 kPa) and diastolic blood pressure less than 80 mm Hg) in the 2^nd, 3^rd and 4^th quartile were 0.82 (0.70, 0.95), 0.73 (0.63, 0.85) and 0.78 (0.67, 0.90), respectively (P_trend=0.002). Among participants with prehypertension (systolic blood pressure from 120 to 139 mmHg and/or diastolic blood pressure from 80 to 89 mmHg), similar trend for the relationship of PA and incident hypertension was also found with HR (95%CI) of 0.94 (0.87, 1.01), 0.71 (0.65, 0.77) and 0.66 (0.61, 0.71) for the 2^nd, 3^rd and 4^th quartile, respectively (P_trend<0.001). Conclusion There was linear trend association between PA and incident hypertension. Increased PA in daily life may be a protective factor against hypertension.

Objective: To explorer factors related to spontaneous reduction in twin pregnancy following assisted reproductive technology. Methods: 2 848 twin pregnant women with treatment of vitro fertilization-embryo transfer (IVF-ET) or intra cytoplasmic sperm injection (ICSI) cycles were enrolled at Assisted Reproductive Centre of the First Affiliated Hospital of Nanjing Medical University, Nanjing Maternity Hospital and Shengjing Hospital of China Medical University from January 2013 to December 2016 respectively. Basic features of subjects, relevant clinical indicators, factors of assisted reproductive therapy and pregnancy outcome were collected from clinical assisted reproductive technology management system. According to the pregnancy outcome, the subjects with spontaneous reduction were classified as case group (n=686), and those with normal twin birth were classified as control group (n=2 162). The features of subjects in the two groups were compared. Non-conditional logistics regression model was used to analyze the related factors of the occurrence of spontaneous reduction. Results: The age of case group and control group were (30.6±4.3) and (30.2±4.0) years old respectively. After the adjustment of male sterile factor, compared to the subjects with luteinizing hormone level on the day of human chorionic gonadotropin administration (HCG) <1.43 IU/L, OR (95%CI) of the subjects with value at 2.59-5.10 IU/L was1.62 (1.08-2.42).Compared to the subjects with number of transferred embryo as 1, OR (95%CI) of the subjects with value as 3 was 0.23 (0.07-0.74). Compared to the subjects with stage of transferred embryo as cleavage stage, OR (95%CI) of the subjects with blastula stage was 0.42 (0.27-0.67). Conclusion Luteinizing hormone level on day of HCG, number and stage of embryo transfer are related factors to spontaneous reduction in twin pregnancy following assisted reproductive technology.

In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.
Blotting, Western ; BRCA2 Protein ; Breast Neoplasms* ; Breast* ; Drug Resistance ; Female ; Fluorescent Antibody Technique ; Genes, BRCA2 ; High-Throughput Nucleotide Sequencing ; Humans ; Mass Screening ; Nonsense Mediated mRNA Decay* ; Ovarian Neoplasms ; Pedigree ; Prostate ; RNA, Messenger ; Siblings

Objective To compare the tumor sizes of primary lesions in pancreatic cancer based on CT scan and postoperative pathological analysis and measure the extent of filtration under a microscope,and to determine the CTV in radiotherapy target delineation.Methods A total of 19 patients with pancreatic cancer who were admitted to PLA General Hospital and Air Force General Hospital,PLA from 2013 to 2014 were analyzed.In 15 patients,the maximum diameters of tumor cross-section were measured based on the images of preoperative multi-slice spiral CT and postoperative gross samples,respectively.In 19 patients,the extent of tumor infiltration was measured on pathological sections under a microscope and the actual extent of infiltration was calculated.The paired t-test was applied to analyze the differences in the results of different measurement methods.Results In the 15 patients,the maximum tumor diameters measured with gross samples and CT scan were 33.6 mm and 30.1 mm,respectively (P=0.000),and the median and mean of the differences were 3.1 mm (1.2-8.0 mm) and 3.6±2.0 mm,respectively (95％ CI 1.2-6.0).In the 19 patients,the maximum actual infiltration distance and the maximum distance measured were 3.50 mm and 3.19 mm,respectively (P=0.000),and the median and mean of the differences were 0.31 mm (0.15-0.50 mm) and 0.30±0.09 mm,respectively.The maximum distance between the margin of primary lesions and the infiltrating lesions was 5.21 mm,with a median of 3.34 mm (2.19-5.21 mm) and a mean of 3.50± 0.88 mm (95％ CI 2.19-5.06).Conclusions Contrast-enhanced CT scan underestimates the actual size of primary lesions in pancreatic cancer,and an extension of 5 mm outside gross tumor volume (GTV) as CTV may not be sufficient.It is recommended to extend another 1-3 mm outside GTV as CTV.

Objective To observe the clinical efficacy of duloxetine in the treatment of malignant neuropathic pain with depression.Methods 60 patients were randomly divided into two groups as study group(30 cases) and contrdl group(30 cases) and treated for 4 weeks.The patients of study group were treated with duloxetine and oxycontin,and the patients of control group were treated with oxycontin only.Numberical rating scale (NRS) on pain,criteria of pain relief and Hamilton depression scale(HAMD,17 items) score were used to assess the therapeutic effect before and after treatment.Results By the end of the fourth week of treatment,the average usage of oxycontin of the study group was significantly less than control group((45.6±8.5) mg vs (88.2±5.2)mg,P＜0.05).The effective rate of pain relief in the study group was significantly higher than that in control group (93.3％ vs 73.3％,P＜0.05).Comparing pre-treatment,the score of HAMD of the study group had a remarkable decrease ((11.45±4.56) vs (23.07±5.47),P＜0.01).In comparison to the score of control group,study group had a significant effect ((11.45±4.56) vs (18.75±4.21),P＜0.01).Conclusion Duloxetine is one of effective agents in the treatment of malignant neuropathic pain with depression,which can alleviate depression and relieve pain.Duloxetine have mild adverse effects and good tolerance.

BACKGROUND:Ligamentum flavum hypertrophy is one of the most important factors of lumbar spinal stenosis, but the molecular mechanism is stil not very clear. OBJECTIVE:To explore the role of basic fibroblast growth factor, connective tissue growth factor and transforming growth factor β1 in hypertrophy of the lumbar ligamentum flavum. METHODS: The ligamentum flavum samples were divided into three groups according to different diseases: control group (acquired from the patients with lumbar spinal canal tumor,n=6), lumbar disc herniation (LDH) group (acquired from the patients with LDH,n=6) and lumbar spinal stenosis (LSS) group (acquired from the patients with LSS,n=6). Then the mRNA expressions of basic fibroblast growth factor, connective tissue growth factor, transforming growth factor β1 and colagen I, III, V of the ligamentum flavum were detected using real-time quantitative RT-PCR method. The roles of basic fibroblast growth factor, connective tissue growth factor and transforming growth factor β1 were explored. RESULTS AND CONCLUSION:The expression of basic fibroblast growth factor mRNA in the LSS group was significantly higher than that in the LDH and control groups (bothP < 0.05); the expression of connective tissue growth factor mRNA was not found statisticaly different among the three groups, although it was slightly higher in the LSS group (P> 0.05); the expression of transforming growth factor β1 mRNA was significantly higher in the LSS group than in the LDH and control groups (bothP < 0.01). The colagen I mRNA expressed significantly higher in the LSS group than the LDH and control groups (bothP < 0.05), but both the colagen III and V mRNA showed no significant difference among the three groups (P> 0.05). This study indicate that both basic fibroblast growth factor and transforming growth factor β1 play important roles in the formation process of the lumbar ligamentum flavum hypertrophy, and the main type of the colagen in the hypertrophied ligamentum flavum is colagen I.