• 【比目鱼肌的代谢特征与高血压父母的后代中胰岛素作用有关。】 复制标题 收藏 收藏
    DOI:10.1016/j.metabol.2006.06.010 复制DOI
    作者列表:Kratochvílová S,Vyhnanovská P,Vlasáková Z,Hájek M,Skibová J,Pelikánová T
    BACKGROUND & AIMS: :Insulin resistance affecting skeletal muscle metabolism is present in the prehypertensive state. The aim of our study was to test the hypothesis that blood pressure value is related to skeletal muscle composition, measured by (31)P magnetic resonance (MR) spectroscopy, and to insulin sensitivity in the offspring of hypertensive parents (OH) and healthy controls. Study groups consisted of 10 healthy young lean OH with normal glucose tolerance, confirmed with oral glucose tolerance test, and 13 controls matched for age, sex, and body mass index. Insulin action was estimated as glucose disposal (M), glucose metabolic clearance rate (MCR), and insulin sensitivity index (M/I) during a 10-hour hyperinsulinemic euglycemic clamp. The sum of immunoreactive insulin values from the oral glucose tolerance test was calculated. (31)P MR spectroscopy was performed on a whole-body MR scanner (Siemens Vision, Erlangen, Germany) operating at 1.5 T and equipped with actively shielded gradient coils. There were no differences in common metabolic and anthropometric parameters between OH and controls except for the blood pressure, which was in the range of normal to high-normal level in OH. Mean blood pressure was significantly higher in OH (95.73 +/- 4.39 vs 83.76 +/- 3.95 mm Hg; P < .001). Trend toward insulin resistance was registered in OH with significantly lower M/I (0.74 +/- 0.47 vs 1.42 +/- 0.65 mg x kg(-1) x min(-1) x mIU(-1) x L(-1); P < .05). There were no significant differences in total serum magnesium (sMg) levels between OH and controls, although a positive correlation exists between sMg and insulin sensitivity expressed as M (r = 0.63, P < .01), MCR (r = 0.54, P < .01), and M/I (r = 0.51, P < .05). No differences in signal intensities of phosphocreatine (PCr), phosphomonoesters, phosphodiesters, inorganic phosphates (Pi), adenosine triphosphates (Patp and betaATP), and calculated concentrations of intracellular ionized magnesium (Mgi) and H(+) ions between the groups were detected. Systolic blood pressure correlates positively with PCr/Patp (r = 0.43, P < .05), Pi/Patp (r = 0.413, P < .05), and Pi/betaATP (r = 0.48, P < .05). Diastolic blood pressure correlates positively only with the ratio Pi/betaATP (r = 0.42, P < .05). The sum of immunoreactive insulin values correlates with PCr/betaATP (r = 0.53, P < .01) and with Pi/betaATP (r = 0.6, P < .01). In conclusion, increase in blood pressure and insulin resistance were confirmed in offspring of OH. Insulin sensitivity is related to sMg and the elevation of blood pressure is associated with the activation of energy metabolism in skeletal muscle. The relationship between muscle energetic characteristics and markers of insulin resistance suggests that the alteration of energy metabolism may be present in early stages of metabolic syndrome.
    背景与目标: :在高血压前状态下,会影响骨骼肌新陈代谢的胰岛素抵抗。我们研究的目的是检验以下假设:血压值与通过(31)P磁共振(MR)光谱法测量的骨骼肌成分以及高血压父母(OH)和健康对照的后代的胰岛素敏感性有关。研究组包括10名健康正常的年轻瘦肉OH,其葡萄糖耐量正常,经口服葡萄糖耐量试验确认,另有13个对照的年龄,性别和体重指数匹配。在10小时高胰岛素正常血糖钳制期间,胰岛素作用估计为葡萄糖处置(M),葡萄糖代谢清除率(MCR)和胰岛素敏感性指数(M / I)。计算来自口服葡萄糖耐量试验的免疫反应性胰岛素值的总和。 (31)P MR光谱是在全身MR扫描仪(Siemens Vision,Erlangen,德国)上以1.5 T操作并配备有源屏蔽梯度线圈进行的。 OH和对照组之间的共同代谢和人体测量学参数没有差异,除了血压处于OH正常水平到高正常水平的范围之内。 OH的平均血压显着升高(95.73 /-4.39与83.76 /-3.95 mm Hg; P <.001)。在OH中出现胰岛素抵抗的趋势,M / I显着降低(0.74 /-0.47对1.42 /-0.65 mg x kg(-1)x min(-1)x mIU(-1)x L(-1); P <.05)。尽管sMg与胰岛素敏感性之间呈正相关,以M(r = 0.63,P <.01),MCR(r = 0.54,P < .01)和M / I(r = 0.51,P <.05)。在两组之间没有发现磷酸肌酸(PCr),磷酸单酯,磷酸二酯,无机磷酸盐(Pi),三磷酸腺苷(Patp和betaATP)的信号强度以及计算出的细胞内离子化镁(Mgi)和H()浓度的差异。收缩压与PCr / Patp(r = 0.43,P <.05),Pi / Patp(r = 0.413,P <.05)和Pi / betaATP(r = 0.48,P <.05)正相关。舒张压仅与Pi / betaATP比率呈正相关(r = 0.42,P <.05)。免疫反应性胰岛素值的总和与PCr / betaATP(r = 0.53,P <.01)和Pi / betaATP(r = 0.6,P <.01)相关。总之,在OH的后代中证实了血压升高和胰岛素抵抗。胰岛素敏感性与sMg有关,血压升高与骨骼肌能量代谢的激活有关。肌肉能量特性与胰岛素抵抗标志物之间的关系表明,能量代谢的改变可能在代谢综合征的早期出现。
  • 【I型糖尿病易感性候选基因的分析:2q31-35号染色体上基因的病例对照和家庭关联研究。】 复制标题 收藏 收藏
    DOI:10.2337/diab.46.6.1069 复制DOI
    作者列表:Owerbach D,Naya FJ,Tsai MJ,Allander SV,Powell DR,Gabbay KH
    BACKGROUND & AIMS: Recent genome searches suggest a putative linkage of many loci to susceptibility to type I diabetes. The chromosome 2q31-35 region is reported to be linked to susceptibility to type I diabetes and is thought to contain several diabetes susceptibility loci. These candidate genes include the HOXD gene cluster, BETA2, CTLA4, CD28, IGFBP2, and IGFBP5. Association studies in populations and families are required to confirm and/or identify the actual susceptibility loci. We hereby report several previously unknown DNA polymorphisms for HOXD8, BETA2, and IGFBP5, which we have used along with previously known polymorphisms of HOXD8 and CTLA4 to test whether these candidate loci are the susceptibility genes on chromosome 2q31-35. Using a case-control design with a subsequent family-association approach to confirm associations, we find no evidence that these candidate genes are associated with susceptibility to type I diabetes.

    背景与目标: 最近的基因组搜索表明,许多基因位点与I型糖尿病易感性的推测联系。据报道,染色体2q31-35与I型糖尿病易感性相关,并被认为含有几个糖尿病易感性基因座。这些候选基因包括HOXD基因簇,BETA2,CTLA4,CD28,IGFBP2和IGFBP5。需要在人群和家庭中进行协会研究,以确认和/或识别实际的易感基因座。我们在此报告了HOXD8,BETA2和IGFBP5的几种先前未知的DNA多态性,并将其与HOXD8和CTLA4的先前已知多态性一起用于测试这些候选基因座是否为2q31-35染色体上的易感性基因。使用病例对照设计和随后的家庭关联方法来确认关联,我们没有发现这些候选基因与I型糖尿病易感性相关的证据。

  • 3 The gene family that cheats Mendel. 复制标题 收藏 收藏

    【欺骗孟德尔的基因家族。】 复制标题 收藏 收藏
    DOI:10.7554/eLife.28567 复制DOI
    作者列表:Shropshire JD,Rokas A
    BACKGROUND & AIMS: :Some alleles of the wtf gene family can increase their chances of spreading by using poisons to kill other alleles, and antidotes to save themselves.
    背景与目标: :wtf基因家族的某些等位基因可以通过使用毒药杀死其他等位基因和解毒剂来拯救自己,从而增加传播的机会。
  • 【通过核酸碱基的四分之一化与芳香族氨基酸的突出堆积相互作用:X射线晶体学特征和生物学意义。】 复制标题 收藏 收藏
    DOI:10.1016/0003-9861(90)90251-s 复制DOI
    作者列表:Ishida T,Ueda H,Segawa K,Doi M,Inoue M
    BACKGROUND & AIMS: :In order to investigate the mode of interaction between the N-quarternized cytosine base and the aromatic amino acid, the crystal structure of the 3-methyl-cytidine-5'-monophosphate:tryptamine complex was analyzed by X-ray diffraction. The complex crystals were stabilized by extensive hydrogen bond formations in which eight independent water molecules per complex pair participated. A prominent stacking interaction, characterized by a parallel alignment of both rings with a separation distance of ca. 3.4 A, was observed between the cytosine base and the indole ring. Combining the present results with X-ray crystallographic data on the adenine--and guanine--aromatic amino acid interactions, we summarize the structural characteristics observed in the stacking interaction of the N-quarternized nucleic acid base with the aromatic amino acid and discuss their biological implications, especially in connection with the significance of N-protonation of nucleic acid base for selective recognition by protein.
    背景与目标: :为了研究N-季铵化的胞嘧啶碱基与芳族氨基酸之间的相互作用方式,通过X射线衍射分析了3-甲基胞苷-5'-单磷酸酯:色胺的配合物的晶体结构。复杂的晶体通过广泛的氢键形成而稳定,其中每个复杂对参与八个独立的水分子。突出的堆叠相互作用,其特征在于两个环的平行排列的间隔距离为ca。在胞嘧啶碱基和吲哚环之间观察到3.4A。结合本研究结果与X射线晶体学数据进行的关于腺嘌呤-鸟嘌呤-芳香族氨基酸相互作用的研究,我们总结了在N-季铵化核酸碱基与芳香族氨基酸的堆叠相互作用中观察到的结构特征,并对其进行了讨论生物学意义,特别是与核酸碱基的N质子化对于蛋白质选择性识别的意义有关。
  • 【三级护理中心引起的深静脉血栓形成的特征。】 复制标题 收藏 收藏
    DOI:10.1016/j.jvsv.2017.02.006 复制DOI
    作者列表:Brownson KE,Brahmandam A,Huynh N,Reynolds J,Fares WH,Lee AI,Dardik A,Ochoa Chaar CI
    BACKGROUND & AIMS: OBJECTIVE:Provoked deep venous thrombosis (DVT) is precipitated by a specific event. This paper compares the characteristics of provoked DVT in patients with transient risk (TR) factors and patients with continuous risk (CR) factors. METHODS:A retrospective review of records of all consecutive patients diagnosed with DVT between January 2013 and August 2014 was performed. Patients with provoked DVT were included in the TR group if the provoking event resolved in 2 weeks and they did not have ongoing risk of thrombosis. Patients in the CR group had a provoked DVT with ongoing risk of thrombosis due to individual factors deemed to be ongoing risks of thrombosis, such as cancer, hypercoagulable disorder, and prolonged immobilization. Demographics, risk factors, association with pulmonary embolism (PE) and its severity, risk of recurrent venous thromboembolism (VTE), and mortality were compared between the two groups. RESULTS:A total of 838 patients were diagnosed with DVT, and 50.7% (425) were provoked. There were 127 (29.9%) patients with TR and 298 (70.1%) with CR. TR patients were younger (60.4 ± 16.3 vs 65.9 ± 16.0; P = .001). TR was more likely to be provoked by surgery (70.9% vs 55.4%; P = .003), whereas CR was more likely to be provoked by immobilization (21.5% vs 12.6%; P = .032). CR patients were affected by cancer (48.7%) and hypercoagulable disorders (4.4%). TR patients were more likely to have calf DVTs (36.2% vs 26.2%; P = .047). There was a trend toward lower association with PE on presentation in TR (17.3% vs 21.1%; P = .072), but that did not reach statistical significance. However, TR factors were more likely to be associated with low-risk PE compared with CR factors (30.2% vs 54.6%; P = .040). After mean follow-up of 7.2 months, CR had higher risk of recurrent VTE (14.0% vs 6.8%; P = .045) and mortality (23.5% vs 7.1%; P < .0001). CONCLUSIONS:Provoked DVT with CR factors affects older patients and is associated with high recurrence of VTE and mortality compared with provoked DVT with TR factors.
    背景与目标: 目的:诱发深静脉血栓形成(DVT)是由特定事件引起的。本文比较了短暂风险(TR)因子和持续风险(CR)因子引起的DVT的特征。
    方法:回顾性分析2013年1月至2014年8月间所有诊断为DVT的连续患者的病历。如果挑衅事件在2周内解决并且他们没有持续的血栓形成风险,则将挑衅性DVT的患者纳入TR组。 CR组的患者患有诱发性DVT,具有持续的血栓形成风险,原因是被认为是持续的血栓形成风险的个体因素,例如癌症,高凝性疾病和长时间的固定。比较了两组的人口统计学,危险因素,与肺栓塞(PE)的关联及其严重性,复发性静脉血栓栓塞(VTE)的风险和死亡率。
    结果:总共诊断为DVT的838例患者,引起了50.7%(425)的挑衅。有127名(29.9%)的TR患者和298名(70.1%)的CR患者。 TR患者较年轻(60.4±16.3 vs 65.9±16.0; P = .001)。 TR更有可能由手术引起(70.9%vs 55.4%; P = .003),而CR更有可能由固定引起(21.5%vs 12.6%; P = .032)。 CR患者受癌症(48.7%)和高凝性疾病(4.4%)的影响。 TR患者更有可能患有小腿深静脉血栓(36.2%vs 26.2%; P = .047)。在TR中出现与PE的关联性较低的趋势(17.3%对21.1%; P = .072),但这没有统计学意义。然而,与CR因子相比,TR因子更可能与低风险PE相关(30.2%vs 54.6%; P = .040)。平均随访7.2个月后,CR复发VTE(14.0%vs 6.8%; P = .045)和死亡率(23.5%vs 7.1%; P <.0001)的风险更高。
    结论:诱发性DVT伴CR因素会影响老年患者,与诱发性DVT伴TR因素相比具有较高的VTE复发率和死亡率。
  • 【有和没有肾结石病家族史的健康学童尿结石的危险因素。】 复制标题 收藏 收藏
    DOI:10.1007/s00467-012-2368-5 复制DOI
    作者列表:Sáez-Torres C,Grases F,Rodrigo D,García-Raja AM,Gómez C,Frontera G
    BACKGROUND & AIMS: BACKGROUND:The prevalence of lithiasis is increasing at all ages. This study aimed to assess the crystallization risk in urine from healthy school children and to determine urinary parameters that are most associated with it. METHODS:Urine samples were obtained from 184 children aged 5-12 years: a spot sample collected in the afternoon, and a 12-h overnight sample. Information was obtained regarding family histories of lithiasis. Urine volume, pH, and biochemical parameters of stone risk were measured. Crystallization risk was defined by the presence of specific urine conditions that had previously been associated with stone formation in vitro. RESULTS:Crystallization risk was observed in 15 % of spot urine samples and 54 % of 12-h samples. Metabolic abnormalities and a low urinary volume were more frequently detected in children with crystallization risk. Calcium excretion and calcium/citrate ratio were higher in children with a family history of lithiasis. CONCLUSIONS:We observed a high prevalence of crystallization risk in urine, especially in children with a family history of the disease. Low urinary volume was the factor most associated with increased risk. Adequate fluid intake at an early age may be a simple and effective measure to reduce the incidence of nephrolithiasis.
    背景与目标: 背景:石斑症的患病率在各个年龄段都在增加。这项研究旨在评估健康学童尿液中结晶的风险,并确定与其最相关的尿液参数。
    方法:从184名5-12岁的儿童中获取尿液样本:下午收集现场样本,并收集12小时的过夜样本。获得了有关石尿症家族史的信息。测量尿液体积,pH值和结石风险的生化参数。结晶风险是由以前与体外结石形成有关的特定尿液条件定义的。
    结果:在15%的现货尿液样本和54%的12小时样本中观察到结晶风险。具有结晶风险的儿童更经常检测到代谢异常和尿量低。有结石病家族史的儿童的钙排泄和钙/柠檬酸比更高。
    结论:我们观察到尿液中结晶风险的患病率很高,尤其是在有该病家族史的儿童中。低尿量是与增加风险最相关的因素。早期摄入足够的液体可能是减少肾结石症发生率的一种简单有效的措施。
  • 【功能性胃灼热:临床特征和预后。】 复制标题 收藏 收藏
    DOI:10.1097/MEG.0b013e32835b108f 复制DOI
    作者列表:Surdea Blaga T,Dumitrascu D,Galmiche JP,Bruley des Varannes S
    BACKGROUND & AIMS: OBJECTIVES:Patients with heartburn and normal upper gastrointestinal endoscopy, normal oesophageal acid exposure, no symptom-reflux association and who fail to respond to a proton-pump inhibitor are classified as having functional heartburn (FH). This study aimed (i) to characterize the symptoms and functional abnormalities of patients with FH and (ii) to describe their clinical outcome. MATERIALS AND METHODS:Among all patients referred for 24 h multichannel intraluminal impedance-pH (MII-pH), patients with FH were identified. The clinical characteristics and high-resolution oesophageal pressure topography recordings of FH patients were analyzed at the time of the 24-h MII-pH test. A symptom-related and health-related quality-of-life questionnaire was then sent to FH patients to assess the long-term outcome. RESULTS:Forty patients fulfilled the criteria for FH, representing 8.5% of the referred population. Twenty-two months after initial testing, 66% of patients still suffered from heartburn. The rate of mixed reflux (liquid/gas) was higher in patients with persisting heartburn at the final evaluation (63 vs. 50%, P=0.04). Sixty-six per cent of patients had one or more manometric abnormalities. Acid clearance time in MII-pH was significantly higher in patients with weak peristalsis than patients with normal peristalsis (60 ± 45 vs. 31 ± 19 s, P=0.03). A high rate of mixed reflux and/or a manometric abnormality were associated with a higher risk of persistent heartburn. CONCLUSION:FH is a chronic disorder with persisting symptoms in two-thirds of patients. An increased rate of mixed reflux and/or the presence of manometric abnormalities are associated with a higher risk of persisting symptoms and may help to identify the population with unmet therapeutic needs.
    背景与目标: 目的:患有胃灼热和正常上消化道内窥镜检查,正常食道酸暴露,无症状-反流关联且对质子泵抑制剂无反应的患者被归类为功能性胃灼热(FH)。这项研究旨在(i)表征FH患者的症状和功能异常,以及(ii)描述其临床结局。
    材料与方法:在所有接受24 h多通道管腔内阻抗pH(MII-pH)治疗的患者中,均鉴定出FH患者。在24小时MII-pH测试时分析了FH患者的临床特征和高分辨率的食管压力地形图记录。然后将症状相关和健康相关的生活质量调查表发送给FH患者,以评估其长期预后。
    结果:40例患者符合FH标准,占推荐人群的8.5%。初始测试后的22个月,仍有66%的患者患有胃灼热。在最终评估中,持续性烧心患者的混合反流(液体/气体)比率更高(63%vs. 50%,P = 0.04)。 66%的患者有一个或多个压力异常。蠕动较弱的患者在MII-pH中的酸清除时间明显长于正常蠕动的患者(60±45 vs. 31±19 s,P = 0.03)。混合反流率高和/或测压异常与持续性烧心的风险较高相关。
    结论:FH是一种慢性疾病,在三分之二的患者中持续存在症状。混合反流率的增加和/或压力异常的存在与持续存在症状的风险较高有关,可能有助于确定治疗需求未得到满足的人群。
  • 【滨海马里尼布拉菌(Marinilabilianitroatireducens sp。) nov。,一种从海洋太阳能盐分离器分离出的Marinilabiliaceae科的脂解细菌。】 复制标题 收藏 收藏
    DOI:10.1007/s10482-012-9834-8 复制DOI
    作者列表:Shalley S,Pradip Kumar S,Srinivas TN,Suresh K,Anil Kumar P
    BACKGROUND & AIMS: :A Gram-negative, rod shaped, motile bacterium, was isolated from a marine solar saltern sample collected from Kakinada, India. Strain AK2(T) was determined to be positive for nitrate reduction, catalase, Ala-Phe-Pro-arylamidase, β-galactosidase, β-N-acetylglucosaminidase, β-glucosidase, β-xylosidase, α-glucosidase, α-galactosidase and phosphatase activities, hydrolysis of aesculin, Tween 20/40/60/80 and urea. It was determined to be negative for oxidase, lysine decarboxylase and ornithine decarboxylase activities and could not hydrolyze agar, casein, gelatin and starch. The predominant fatty acids were identified as iso-C(15:0) (28.2 %), anteiso-C(15:0) (23.2 %), iso-C(13:0) (19.9 %) and iso-C(15:0) 3-OH (13.9 %). Strain AK2(T) was found to contain menaquinone with seven isoprene units (MK-7) as the sole respiratory quinone and phosphatidylethanolamine, one unidentified phospholipid and three unidentified lipids as polar lipids. The 16S rRNA gene sequence analysis indicated the strain AK2(T) as a member of the genus Marinilabilia and is closely related to Marinilabilia salmonicolor with pair-wise sequence similarity of 98.2 %. Phylogenetic analysis of 16S rRNA gene revealed that the strain AK2(T) clustered with M. salmonicolor. However, DNA-DNA hybridization with M. salmonicolor JCM 21150(T) showed a relatedness of 48 ± 0.5 % with respect to strain AK2(T). The DNA G+C content of the strain was determined to be 40.2 mol%. Based on the phenotypic characteristics and phylogenetic inference, it is proposed that the strain AK2(T) represents a novel species of the genus Marinilabilia, for which the name Marinilabilia nitratireducens sp. nov. is proposed. The type strain of M. nitratireducens sp. nov. is AK2(T) (= MTCC 11402(T) = JCM 17679(T)).
    背景与目标: :从印度Kakinada收集的海洋太阳能盐分离器样本中分离出革兰氏阴性,棒状,能动细菌。确定菌株AK2(T)对硝酸盐还原,过氧化氢酶,Ala-Phe-前芳酰胺酶,β-半乳糖苷酶,β-N-乙酰氨基葡糖苷酶,β-葡萄糖苷酶,β-木糖苷酶,α-葡萄糖苷酶,α-半乳糖苷酶和磷酸酶活性,七叶皂苷,Tween 20/40/60/80和尿素的水解。它被确定为氧化酶,赖氨酸脱羧酶和鸟氨酸脱羧酶活性阴性,并且不能水解琼脂,酪蛋白,明胶和淀粉。主要脂肪酸被鉴定为iso-C(15:0)(28.2%),anteiso-C(15:0)(23.2%),iso-C(13:0)(19.9%)和iso-C( 15:0)3-OH(13.9%)。发现菌株AK2(T)含有具有七个异戊二烯单元(MK-7)的甲基萘醌作为唯一的呼吸醌和磷脂酰乙醇胺,一个未确定的磷脂和三个未确定的脂质作为极性脂质。 16S rRNA基因序列分析表明,菌株AK2(T)是马里尼布拉马氏菌属的成员,与马里尼拉鲑鱼色密切相关,成对序列相似性为98.2%。 16S rRNA基因的系统发育分析表明,菌株AK2(T)与沙门氏菌成簇。但是,与鲑鱼支原体JCM 21150(T)的DNA-DNA杂交显示出与菌株AK2(T)的相关性为48±0.5%。测得该菌株的DNA G C含量为40.2mol%。根据表型特征和系统发育推论,建议菌株AK2(T)代表Marinilabilia属的一个新种,其名称为Marinilabilianitroatireducens sp。十一月被提议。硝化分枝杆菌的类型菌株。十一月是AK2(T)(= MTCC 11402(T)= JCM 17679(T))。
  • 【神经性厌食症青少年的增强认知行为疗法:家庭疗法的替代方案?】 复制标题 收藏 收藏
    DOI:10.1016/j.brat.2012.09.008 复制DOI
    作者列表:Dalle Grave R,Calugi S,Doll HA,Fairburn CG
    BACKGROUND & AIMS: :A specific form of family therapy (family-based treatment) is the leading treatment for adolescents with anorexia nervosa. As this treatment has certain limitations, alternative approaches are needed. "Enhanced" cognitive behaviour therapy (CBT-E) is a potential candidate given its utility as a treatment for adults with eating disorder psychopathology. The aim of the present study was to establish, in a representative cohort of patients with marked anorexia nervosa, the immediate and longer term outcome following CBT-E. Forty-nine adolescent patients were recruited from consecutive referrals to a community-based eating disorder clinic. Each was offered 40 sessions of CBT-E over 40 weeks from a single therapist. Two-thirds completed the full treatment with no additional input. In these patients there was a substantial increase in weight together with a marked decrease in eating disorder psychopathology. Over the 60-week post-treatment follow-up period there was little change despite minimal subsequent treatment. These findings suggest that CBT-E may prove to be a cost-effective alternative to family-based treatment.
    背景与目标: :一种特殊形式的家庭治疗(基于家庭的治疗)是神经性厌食症青少年的主要治疗方法。由于这种治疗有一定的局限性,因此需要其他方法。鉴于“增强型”认知行为疗法(CBT-E)可用于患有饮食失调症的心理病理学成年人,因此是一种潜在的候选药物。本研究的目的是在具有明显神经性厌食症的患者的代表性队列中建立CBT-E术后的近期和长期预后。从连续转诊到社区饮食失调诊所招募了49名青少年患者。一位治疗师在40周内为每位患者提供了40次CBT-E疗程。三分之二的人完成了全部治疗,没有其他投入。在这些患者中,体重显着增加,而进食障碍的精神病理学显着下降。在治疗后的60周随访期内,尽管后续治疗最少,但变化不大。这些发现表明,CBT-E可能被证明是替代基于家庭的治疗的一种经济有效的选择。
  • 【香蕉MADS-box家族的全基因组分析与果实的发育和成熟密切相关。】 复制标题 收藏 收藏
    DOI:10.1038/s41598-017-03897-1 复制DOI
    作者列表:Liu J,Zhang J,Zhang J,Miao H,Wang J,Gao P,Hu W,Jia C,Wang Z,Xu B,Jin Z
    BACKGROUND & AIMS: :Proteins encoded by MADS-box genes are important transcription factors involved in the regulation of flowering plant growth and development. Currently, no systematic information exists regarding the MADS-box family in the important tropical fruit banana. Ninety-six MADS-box genes were identified from the banana (Pahang) A genome. Phylogenetic analysis indicated that Musa acuminata MCM1-AGAMOUS- DEFICIENS-SRF (MaMADS) could be divided into MIKCc, MIKC*, Mα/β and Mγ groups. MIKCc could be further divided into 11 subfamilies, which was further supported by conserved motif and gene structure analyses. Transcriptome analysis on the Feng Jiao (FJ) and BaXi Jiao (BX) banana cultivars revealed that MaMADS genes are differentially expressed in various organs, at different fruit development and ripening stages, indicating the involvement of these genes in fruit development and ripening processes. Interactive network analysis indicated that MaMADS24 and 49 not only interacted with MaMADS proteins themselves, but also interacted with hormone-response proteins, ethylene signal transduction and biosynthesis-related proteins, starch biosynthesis proteins and metabolism-related proteins. This systematic analysis identified candidate MaMADS genes related to fruit development and ripening for further functional characterization in plants, and also provided new insights into the transcriptional regulation of MaMADS genes, facilitating the future genetic manipulation of MADS-mediated fruit development and ripening.
    背景与目标: MADS-box基因编码的蛋白质是重要的转录因子,参与开花植物生长发育的调控。目前,在重要的热带水果香蕉中,尚无有关MADS盒家族的系统信息。从香蕉(彭亨州)A基因组中鉴定出96个MADS-box基因。系统发育分析表明,Musus acuminata MCM1-AGAMOUS-DEFICIENS-SRF(MaMADS)可以分为MIKCc,MIKC *,Mα/β和Mγ组。 MIKCc可以进一步分为11个亚家族,这由保守的基序和基因结构分析进一步支持。凤角(FJ)和八喜角(BX)香蕉品种的转录组分析表明,MaMADS基因在不同器官中处于不同的果实发育和成熟阶段差异表达,表明这些基因参与了果实发育和成熟过程。交互网络分析表明,MaMADS24和49不仅与MaMADS蛋白本身相互作用,而且还与激素响应蛋白,乙烯信号转导和生物合成相关蛋白,淀粉生物合成蛋白和代谢相关蛋白相互作用。这项系统分析确定了与果实发育和成熟有关的候选MaMADS基因,以进一步在植物中进行功能表征,也为MaMADS基因的转录调控提供了新见识,从而促进了MADS介导的果实发育和成熟的未来遗传调控。
  • 【整个哺乳动物NEDD8连接酶家族中独特的N末端乙酰化依赖性相互作用的结构保守性。】 复制标题 收藏 收藏
    DOI:10.1016/j.str.2012.10.013 复制DOI
    作者列表:Monda JK,Scott DC,Miller DJ,Lydeard J,King D,Harper JW,Bennett EJ,Schulman BA
    BACKGROUND & AIMS: :Little is known about molecular recognition of acetylated N termini, despite prevalence of this modification among eukaryotic cytosolic proteins. We report that the family of human DCN-like (DCNL) co-E3s, which promote ligation of the ubiquitin-like protein NEDD8 to cullin targets, recognizes acetylated N termini of the E2 enzymes UBC12 and UBE2F. Systematic biochemical and biophysical analyses reveal 40- and 10-fold variations in affinities among different DCNL-cullin and DCNL-E2 complexes, contributing to varying efficiencies of different NEDD8 ligation cascades. Structures of DCNL2 and DCNL3 complexes with N-terminally acetylated peptides from UBC12 and UBE2F illuminate a common mechanism by which DCNL proteins recognize N-terminally acetylated E2s and how selectivity for interactions dependent on N-acetyl-methionine are established through side chains recognizing distal residues. Distinct preferences of UBC12 and UBE2F peptides for inhibiting different DCNLs, including the oncogenic DCNL1 protein, suggest it may be possible to develop small molecules blocking specific N-acetyl-methionine-dependent protein interactions.
    背景与目标: :尽管在真核细胞溶质蛋白中普遍存在这种修饰,但对乙酰化N末端的分子识别知之甚少。我们报告说,人类DCN样(DCNL)co-E3s的家族,促进泛素样蛋白NEDD8与cullin目标的连接,识别E2酶UBC12和UBE2F的乙酰化N末端。系统的生化和生物物理分析表明,不同DCNL-cullin和DCNL-E2复合物之间的亲和力变化为40倍和10倍,从而导致不同NEDD8连接级联反应的效率不同。具有来自UBC12和UBE2F的N末端乙酰化肽的DCNL2和DCNL3配合物的结构阐明了DCNL蛋白质识别N末端乙酰化E2的共同机制以及如何通过识别远端残基的侧链建立依赖N-乙酰甲硫氨酸的相互作用的选择性。 UBC12和UBE2F肽对抑制不同的DCNL(包括致癌DCNL1蛋白)的偏好不同,这表明可能开发出阻断特定N-乙酰基-蛋氨酸依赖性蛋白相互作用的小分子。
  • 【在系统性红斑狼疮患者及其家庭成员的大量不同集合中,传统检测与基于珠子检测之间的自身抗体特异性比较。】 复制标题 收藏 收藏
    DOI:10.1002/art.34651 复制DOI
    作者列表:Bruner BF,Guthridge JM,Lu R,Vidal G,Kelly JA,Robertson JM,Kamen DL,Gilkeson GS,Neas BR,Reichlin M,Scofield RH,Harley JB,James JA
    BACKGROUND & AIMS: OBJECTIVE:Replacement of standard immunofluorescence methods with bead-based assays for antinuclear antibody (ANA) testing is a new clinical option. The aim of this study was to evaluate a large, multiethnic cohort of patients with systemic lupus erythematosus (SLE), blood relatives, and unaffected control individuals for familial aggregation and subset clustering of autoantibodies by high-throughput serum screening technology and traditional methods. METHODS:Serum samples (1,540 SLE patients, 1,154 unaffected relatives, and 906 healthy, population-based controls) were analyzed for SLE autoantibodies using a bead-based assay, indirect immunofluorescence (IIF), and immunodiffusion. Autoantibody prevalence, sensitivity for disease detection, clustering of autoantibodies, and associations between newer methods and standard immunodiffusion results were evaluated. RESULTS:The frequencies of ANAs in the sera from African American, Hispanic, and European American patients with SLE were 89%, 73%, and 67%, respectively, by BioPlex 2200 bead-based assay and 94%, 84%, and 86%, respectively, by IIF. When comparing the serum prevalence of 60-kd Ro, La, Sm, nuclear RNP A, and ribosomal P autoantibodies across assays, the sensitivity of detection ranged from 0.92 to 0.83 and the specificity ranged from 0.90 to 0.79. Autoantibody cluster analysis showed associations of autoantibody specificities in 3 subsets: 1) 60 kd Ro, 52-kd Ro, and La, 2) spliceosomal proteins, and 3) double-stranded DNA (dsDNA), chromatin, and ribosomal P. Familial aggregation of Sm/RNP, ribosomal P, and 60-kd Ro in SLE patient sibling pairs was observed (P ≤ 0.004). Simplex-pedigree SLE patients had a greater prevalence of dsDNA (P = 0.0003) and chromatin (P = 0.005) autoantibodies compared to patients with a multiplex SLE pedigree. CONCLUSION:The frequencies of ANAs detected by a bead-based assay are lower than those detected by IIF in European American patients with SLE. These assays have strong positive predictive values across ethnic groups, provide useful information for clinical care, and provide unique insights into familial aggregation and autoantibody clustering.
    背景与目标: 目的:用基于微珠的抗核抗体(ANA)检测方法代替标准的免疫荧光方法是一种新的临床选择。这项研究的目的是通过高通量血清筛查技术和传统方法评估系统性红斑狼疮(SLE)患者,血亲和未受影响对照个体的大型,多种族队列,以进行家族聚集和自身抗体的子集聚。
    方法:使用基于珠的检测,间接免疫荧光(IIF)和免疫扩散分析血清样本(1,540名SLE患者,1,154名未受影响的亲戚和906名健康的,基于人群的对照)的SLE自身抗体。自身抗体的流行率,疾病检测的敏感性,自身抗体的聚类,以及新方法和标准免疫扩散结果之间的关联进行了评估。
    结果:通过BioPlex 2200珠基检测法,非裔,西班牙裔和欧洲裔SLE患者血清中的ANA频率分别为89%,73%和67%,分别为94%,84%和86 IIF分别为%。在整个试验中比较血清中60 kd Ro,La,Sm,核RNP A和核糖体P自身抗体的患病率时,检测的灵敏度为0.92至0.83,特异性为0.90至0.79。自身抗体簇分析显示了3个子集中的自身抗体特异性的关联:1)60 kd Ro,52 kd Ro和La,2)剪接体蛋白和3)双链DNA(dsDNA),染色质和核糖体P.家族聚集观察到SLE患者同胞对中Sm / RNP,核糖体P和60 kd Ro的变化(P≤0.004)。与具有多重SLE谱系的患者相比,单纯谱系SLE患者的dsDNA(P = 0.0003)和染色质(P = 0.005)自身抗体的患病率更高。
    结论:在美国SLE患者中,基于微珠的检测方法检测到的ANAs频率低于IIF检测的频率。这些测定法在各个族裔中都具有很强的阳性预测价值,可为临床护理提供有用的信息,并提供有关家族聚集和自身抗体聚类的独特见解。
  • 【马凡氏综合症妇女的出生特征,妊娠的产科和新生儿结局-一项全国队列研究和病例对照研究。】 复制标题 收藏 收藏
    DOI:10.1016/j.ejogrb.2017.05.026 复制DOI
    作者列表:Kernell K,Sydsjö G,Bladh M,Josefsson A
    BACKGROUND & AIMS: OBJECTIVE:The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. STUDY DESIGN:In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265). The study population was followed until 2013. A total of 364 553 mother-firstborn-offspring pairs were analyzed. Sixty-one women with Marfan syndrome became mothers. Women with Marfan syndrome were also compared to 543 healthy controls. RESULTS:Women with Marfan syndrome were more often born preterm (p<0.001), small-for-gestational age (p<0.001), and delivered by cesarean section (p=0.001). Women with Marfan syndrome had no increased risk of giving birth by cesarean section (p=0.079). No increased neonatal risks in their children were found. Women with Marfan syndrome were less likely to give birth than those without (p<0.001). There were no maternal deaths. CONCLUSIONS:Women with Marfan syndrome were more likely to be born preterm, SGA and by cesarean section. These increased risks of preterm birth and SGA babies were not found in connection with their own first childbirth. Pregnancies with known fetal Marfan syndrome have to be carefully monitored. The results are important for obstetricians giving preconception counseling and treating women with Marfan syndrome. Further studies are needed to evaluate risks during pregnancy and long-term effects of pregnancy on the cardiovascular status of women with Marfan syndrome.
    背景与目标: 目的:目的是通过瑞典国家登记簿调查马凡综合征女性的首次分娩的出生特征,产科和新生儿结局,因为仅对马凡综合征女性的妊娠相关结局进行了稀疏调查。
    研究设计:在这项基于全国人群的队列研究和匹配的病例对照研究中,对1973年至1993年出生的瑞典妇女进行了比较,将患有马凡氏综合症(n = 273)的妇女与没有该病的妇女(n = 1 017 265)进行了比较。研究人群一直追踪到2013年。共分析了364 553对母亲-第一胎-后代。六十一名患有马凡氏综合症的妇女成为母亲。还比较了患有马凡氏综合症的女性和543名健康对照者。
    结果:马凡氏综合征的妇女更早产(p <0.001),小胎龄(p <0.001),并通过剖宫产分娩(p = 0.001)。患有马凡氏综合症的妇女通过剖宫产术分娩的风险没有增加(p = 0.079)。没有发现孩子的新生儿患病风险增加。患有马凡氏综合症的妇女比没有马芬综合症的妇女分娩的可能性更低(p <0.001)。没有孕产妇死亡。
    结论:马凡氏综合征的女性更可能早产,SGA和剖宫产。未发现早产和SGA婴儿的这些增加的风险与他们的初生有关。患有已知胎儿马凡氏综合征的孕妇必须进行仔细监测。这些结果对于产科医生进行孕前咨询和治疗患有马凡氏综合症的妇女非常重要。需要进一步的研究来评估妊娠期间的风险以及妊娠对马凡氏综合症女性心血管状况的长期影响。
  • 【易于在计划生育环境中插入宫内避孕器。】 复制标题 收藏 收藏
    DOI:10.1111/ajo.12007 复制DOI
    作者列表:Harvey C,Bateson D,Wattimena J,Black KI
    BACKGROUND & AIMS: BACKGROUND:Intrauterine devices (IUDs) provide highly effective contraception for women worldwide. Reluctance to insert IUDs in the primary care setting may relate to concern about potential difficulty and complications, particularly in nulliparous women. AIMS:To determine the practitioner, patient and procedural factors associated with abandoned IUD insertion, practitioner-reported difficulty of insertion and adverse events during IUD insertions in the family planning setting. METHODS:This was a prospective study over a 12-month period of consecutive IUD insertions in four family planning clinics across New South Wales and Queensland. Patient, practitioner and device-related factors associated with abandoned IUD insertion, practitioner-reported ease of insertion and immediate insertion-related adverse events were analysed using logistic regression. RESULTS:Of 996 insertion procedures, successful insertion occurred in 95%, and 90% were reported as easy by the inserting doctor, including 80% of those in nulliparous women. Patient characteristics associated with an abandoned insertion were nulliparity (AOR 5.19; 2.49-10.82) or caesarean section-only deliveries (AOR 5.38; 2.58-11.22) and with practitioner-reported difficult insertion, nulliparity alone (AOR 1.98; 1.11-3.54). Practitioners inserting fewer than 100 IUDs over the 12-month study period more frequently rated insertions as difficult (AOR 1.76; 1.08-2.88). Complications occurred in 34 women and were more likely in nulliparous women (AOR 4.51; 2.16-9.39). CONCLUSIONS:Most IUDs can be successfully inserted, even in nulliparous women, in a primary care setting. Referral to a specialist may be appropriate for some women who are nulliparous or had caesarean section-only deliveries, depending on the experience of the practitioner.
    背景与目标: 背景:宫内节育器(IUD)为全世界的妇女提供了高效的避孕方法。不愿意在基层医疗机构中插入宫内节育器可能与担心潜在的困难和并发症有关,特别是在未产妇中。
    目的:确定计划生育环境中与遗弃IUD插入,执业者报告的插入困难和IUD插入过程中的不良事件相关的执业者,患者和程序因素。
    方法:这是一项在新南威尔士州和昆士兰州的四个计划生育诊所连续放置宫内节育器12个月期间的一项前瞻性研究。使用logistic回归分析与被遗弃的宫内节育器插入,与医生报告的插入容易程度以及即刻插入相关的不良事件相关的患者,从业者和设备相关因素。
    结果:996例插入手术中,成功插入的发生率为95%,插入医生报告为90%容易插入,其中包括80%的未生育妇女。与被遗弃的插入相关的患者特征为无效(AOR 5.19; 2.49-10.82)或仅剖腹产(AOR 5.38; 2.58-11.22),以及从业者报告的困难插入,仅无效(AOR 1.98; 1.11-3.54)。从业者在12个月的研究期间插入少于100个宫内节育器的频率更高,其插入难度为(AOR 1.76; 1.08-2.88)。并发症发生在34名女性中,并且在未产妇中更可能发生(AOR 4.51; 2.16-9.39)。
    结论:即使在未产妇中,大多数IUD都可以在基层医疗机构中成功插入。根据从业者的经验,对于一些未生育或仅剖腹产的妇女,转诊专家可能是合适的。
  • 【与已建立的人子宫内膜上皮和基质细胞系共培养对精子运动特性的影响。】 复制标题 收藏 收藏
    DOI:10.1093/humrep/12.6.1197 复制DOI
    作者列表:Guerin JF,Merviel P,Plachot M
    BACKGROUND & AIMS: The effects of co-culture of human spermatozoa with human immortalized endometrial cells - epithelial or stromal - on sperm movement characteristics, including hyperactivation, were studied using computer-assisted sperm analysis (CASA). Epithelial and stromal cell types could be separated following 8-10 days of culture of endometrial cells originating from human biopsies. Both cell types were immortalized by the SV 40 large T antigen. Co-incubation of sperm with epithelial and stromal monolayers enhanced the rate of hyperactivation24.9% (P <0.05) and 17.8% (P = 0.05) versus 9.5% as control, respectively, whereas the majority of motility parameters remained unchanged. Conditioned media had no effect upon sperm parameters, including hyperactivation. Co-incubation with either monolayer was able to maintain sperm motility over a longer period than incubation in control medium alone.

    In four patients whose spermatozoa did not exhibit hyperactivation, co-incubation with epithelial cells, but not conditioned medium, allowed normal rates of hyperactivation (range6.9-15.6%).

    背景与目标: 使用计算机辅助精子分析(CASA)研究了人类精子与人类永生化子宫内膜细胞-上皮或基质共培养对精子运动特征(包括过度活化)的影响。在培养源自人类活组织检查的子宫内膜细胞8-10天后,可以分离上皮和基质细胞类型。两种细胞类型都可以通过SV 40大T抗原获得永生。将精子与上皮和基质单层共同孵育可提高超活化率,分别为对照组的24.9%(P <0.05)和17.8%(P = 0.05),而对照组为9.5%,而大多数运动参数保持不变。条件培养基对精子参数没有影响,包括过度激活。与单独在对照培养基中孵育相比,与任一单层一起共同孵育能够在更长的时间内维持精子活力。

    在四名精子未表现出过度激活的患者中,与上皮细胞共同孵育,但不与条件培养基共同孵育,允许正常的过度激活率(范围6.9-15.6%)。

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