• 【两年的随访中缺乏管状腺瘤的自发消退。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Bersentes K,Fennerty MB,Sampliner RE,Garewal HS
    BACKGROUND & AIMS: OBJECTIVE:Change in colon polyp size over time has not been well characterized. It has been inferred that some polyps will increase in size, leading to an increased risk of progressing to cancer, whereas other polyps may spontaneously regress. To develop a better understanding of the natural history of colon polyps, we prospectively investigated change in polyp size over a 2-yr period.

    METHODS:Patients were enrolled if they had an endoscopically detected proximal rectal or sigmoid polyp measuring 3-9 mm. The index polyp site was then permanently marked with an adjacent India ink tattoo to allow definitive future localization of the polyp. Patients underwent flexible sigmoidoscopy at 6-month intervals, and at each examination, the polyp size was carefully measured with open biopsy forceps. After a maximum of 2 yr, each polyp was removed and the histology determined.

    RESULTS:Thirty polyps were followed in 26 patients who completed the study. Twelve polyps were tubular adenomas (TA), one was tubulovillous, 14 were hyperplastic polyps (HP), two had no pathological diagnosis, and one was a leiomyoma. HP were more likely to decrease in size than were TA. Three polyps demonstrated fast growth rates (2-4 mm/yr), and all were TA. Two polyps were removed early because their size had reached 1 cm or more. Both of those polyps were TA. No polyps regressed completely during the 2 yr of the study; neither did we find consistent linear growth rates.

    CONCLUSIONS:In contrast to prior reports, in this study, after polyps had been definitively localized with India ink, we observed no complete polyp regressions.

    背景与目标: 目标 : 结肠息肉大小随时间的变化尚未得到很好的表征。据推断,一些息肉的大小会增加,导致发展为癌症的风险增加,而其他息肉可能会自发消退。为了更好地了解结肠息肉的自然史,我们前瞻性地研究了2年内息肉大小的变化。
    方法 : 如果患者在内窥镜下检测到的近端直肠或乙状结肠息肉测量3-9毫米。然后,将索引息肉部位永久标记为相邻的印度墨水纹身,以便将来对息肉进行明确的定位。患者每隔6个月接受一次柔性乙状结肠镜检查,每次检查时,均使用开放式活检钳仔细测量息肉大小。最多2年后,切除每个息肉并确定组织学。
    结果 : 对完成研究的26例患者进行了30例息肉的随访。12个息肉为管状腺瘤 (TA),1个为管状绒毛状息肉,14个为增生性息肉 (HP),2个无病理诊断,1个为平滑肌瘤。HP比TA更有可能缩小。三个息肉显示出快速的生长速率 (2-4毫米/年),并且都是TA。由于两个息肉的大小已达到1厘米或更多,因此早期移除了两个息肉。这两个息肉都是TA。在研究的2年中,没有息肉完全消退; 我们也没有发现一致的线性增长率。
    结论 : 与先前的报告相反,在本研究中,在印度墨水明确定位息肉之后,我们没有观察到完全的polyp回归。
  • 【十二指肠球术后胰腺脓肿的自发愈合。】 复制标题 收藏 收藏
    DOI:10.1097/00000441-199707000-00010 复制DOI
    作者列表:Kawachi S,Ogawa T,Ukita M,Shiroko J,Kawase Y,Adachi S,Kametani M,Kamikubo K
    BACKGROUND & AIMS: A 70-year-old man was admitted to the hospital because of sudden, upper abdominal and back pain. Laboratory and image data indicated acute pancreatitis. Shortly after the admission, pancreatic and liver abscess with bacteremia developed. Antibiotic therapy seemed effective. A month later, spontaneous fistulization of the pancreatic abscess to the duodenal bulb was found by gastroduodenal fiberscopy. Injection of contrast medium into the duodenal orifice showed that the fistula was draining the abscess and that no other fistula formed from the abscess. Endoscopic retrograde cholangiopancreatogram indicated no fistula formation to the pancreatic duct. The pancreatic abscess became smaller and was not visible using computerized tomography and ultrasonography 3 months later and thereafter. Closure of the duodenal orifice was ascertained by the endoscopy. It is suggested that retrograde infection from the fistula was prevented by the single fistulization to the acidic duodenal bulb, which is not supposed to allow most bacterial growth. Pancreatic abscess usually necessitates operative treatment, even with fistulization to the alimentary tract. It seems likely that the single, small fistulization to the bulb, in addition to the lack of underlying disease and medical and nutritional support, facilitated the spontaneous healing process.

    背景与目标: 一名70岁的老人因突然上腹部和背部疼痛入院。实验室及影像资料提示急性胰腺炎。入院后不久,出现了胰腺和肝脓肿伴菌血症。抗生素治疗似乎有效。一个月后,胃十二指肠纤维镜检查发现胰腺脓肿对十二指肠球的自发性纤维化。将造影剂注射到十二指肠孔中,表明瘘管正在排出脓肿,并且脓肿没有形成其他瘘管。内镜逆行胰胆管造影显示胰管无瘘形成。3个月后及其后,使用计算机断层扫描和超声检查看不到胰腺脓肿。通过内窥镜检查确定十二指肠口的闭合。建议通过对酸性十二指肠球的单次纤维化来防止瘘管的逆行感染,这不应允许大多数细菌生长。胰腺脓肿通常需要手术治疗,即使对消化道进行造瘘。除了缺乏潜在的疾病以及医学和营养支持外,球茎的单一小纤维化似乎很可能促进了自发愈合过程。
  • 【通过自发性破裂进入胆道来解决包虫肝囊肿。】 复制标题 收藏 收藏
    DOI:10.1016/s0168-8278(97)80479-5 复制DOI
    作者列表:Becker K,Frieling T,Saleh A,Häussinger D
    BACKGROUND & AIMS: Among the complications of hydatid liver disease, spontaneous cyst rupture into the biliary tract is unusual, occurring in 3.2-17% of cases. Its endoscopic management has been reported rarely, and corresponding complete photodocumentation is unique. Such a case is described and comprehensively illustrated in a 48-year-old immunocompromised man, presenting with upper abdominal pain, obstructive jaundice, and fever. Impaction of hydatid material into the common bile duct and the papilla of Vater was relieved endoscopically, and the patient was consecutively treated with two courses of mebendazole. This management resulted in complete clinical resolution of hepatic hydatosis after 8 months of follow-up. Complications of overt cyst perforation may be allergic, obstructive, secondary infectious, or metastatic. Ultrasound and computed tomography are complementary tools for diagnosis of hepatic echinococcosis, with endoscopic retrograde cholangiography being the "gold standard" in confirming rupture into the biliary system. Laboratory results are usually non-specific. While surgical excision is the treatment of choice, selected patients may primarily be managed endoscopically, followed by anthelminthic therapy.

    背景与目标: 在包虫肝病的并发症中,自发性囊肿破裂进入胆道是罕见的,发生在3.2-17% 的病例中。它的内窥镜管理很少有报道,相应的完整照片记录是独一无二的。在一名48岁的免疫功能低下的男子中描述并全面说明了这种情况,该男子表现为上腹痛,阻塞性黄疸发热。内镜下减轻了包虫物质进入胆总管和Vater乳头的影响,并连续接受了两个疗程的甲苯咪唑治疗。经过8个月的随访,这种治疗可使肝囊肿的临床完全消退。显性囊肿穿孔的并发症可能是过敏性,阻塞性,继发性感染或转移性。超声和计算机断层扫描是诊断肝包虫病的补充工具,内窥镜逆行胆管造影是确认胆道系统破裂的 “金标准”。实验室结果通常是非特异性的。虽然手术切除是首选的治疗方法,但选定的患者可能主要是内镜治疗,然后是驱虫疗法。
  • 【[自发性双侧VA夹层动脉瘤伴SAH的病例]。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Nishimu YA,Ikeda A,Sugita R,Maeda K,Nakamua S,Takerroto M,Shibuya M
    BACKGROUND & AIMS: :We report a case of bilateral vertebral artery (VA) dissecting aneurysm presenting subarachnoid hemorrhage (SAH). It was difficult to decide which side was responsible for SAH because the patient's symptom and head CT suggested that the left VA aneurysm had ruptured, but angiography and MRA showed an irregular pearl and string sign on the right side. He was successfully treated by trapping of the right VA dissecting aneurysm and we confirmed by intraoperative evaluation that the right VA dissecting aneurysm had ruptured. The left unruptured aneurysm decreased its size spontaneously. In the treatment of the bilateral VA dissecting aneurysms, angiography needs to be performed over and over again because contralateral unruptured aneurysm may grow or rupture due to increased hemodynamic stress. Various combinations of direct sugery with or without arterial reconstruction and endovascular treatment should be considered when treating bilateral VA dissecting aneurysms.
    背景与目标: : 我们报告一例双侧椎动脉 (VA) 夹层动脉瘤,表现为蛛网膜下腔出血 (SAH)。由于患者的症状和头部CT提示左VA动脉瘤破裂,因此很难确定是哪一侧引起SAH的原因,但是血管造影和MRA在右侧显示不规则的珍珠和弦征。通过捕获右VA夹层动脉瘤成功治疗了他,我们通过术中评估确认右VA夹层动脉瘤破裂。左未破裂的动脉瘤会自发减小其大小。在双侧VA夹层动脉瘤的治疗中,由于血流动力学压力增加,对侧未破裂的动脉瘤可能会生长或破裂,因此需要一遍又一遍地进行血管造影。在治疗双侧VA夹层动脉瘤时,应考虑直接切除有或没有动脉重建以及血管内治疗的各种组合。
  • 5 Spontaneous vitreous hemorrhage in children. 复制标题 收藏 收藏

    【儿童自发性玻璃体出血。】 复制标题 收藏 收藏
    DOI:10.1016/j.ajo.2013.05.042 复制DOI
    作者列表:Sudhalkar A,Chhablani J,Jalali S,Mathai A,Pathengay A
    BACKGROUND & AIMS: PURPOSE:To determine the clinical profile, causes, and outcomes of "spontaneous" vitreous hemorrhage in children (<18 years). DESIGN:Retrospective computer-assisted chart review. METHODS:Charts of 124 eyes of 76 children who presented with nontraumatic, nonsurgical vitreous hemorrhage between 2002 and 2012 were reviewed. All children underwent an appropriate ocular and systemic examination. Data collected included demographics, visual acuity, cause of "spontaneous" vitreous hemorrhage, ocular and systemic findings at presentation and at last follow-up, investigations, management details, and visual outcomes. RESULTS:The median age was 153.45 ± 56.19 months. There were 39 female and 37 male patients. Forty-eight patients had bilateral vitreous hemorrhage. The most common presenting complaints were diminished vision (96.45%) and behavioral changes (87.24%). The mean baseline BCVA in logMAR was 2.25 ± 1.11. The most common causes included vasculitis (34.6%) and hematologic disorders (27.4%). Patients were given medical therapy (topical and/or systemic) or underwent laser photocoagulation (29%) and/or surgery (55.6%). Twenty-nine eyes (23.3%) did not require any intervention. The mean number of surgeries was 1.89 ± 1.45 (range 1-4 surgeries). The mean final visual acuity was 0.76 ± 0.58 logMAR and was significantly better than the baseline (P < .001). The best anatomic and visual outcomes were seen in vasculitis, whereas congenital disorders such as retinoschisis had the worst. CONCLUSIONS:Spontaneous pediatric vitreous hemorrhage has a diverse etiology, vasculitis being the most common cause in our series. A comprehensive evaluation (systemic and ocular) is required to ensure that vision- and life-threatening conditions are not missed.
    背景与目标:
  • 【复发性自然流产与记忆T卵泡辅助细胞关系的研究。】 复制标题 收藏 收藏
    DOI:10.1111/aji.12714 复制DOI
    作者列表:Luan X,Kang X,Li W,Dong Q
    BACKGROUND & AIMS: PROBLEM:Immune tolerance with respect to a semi-allogeneic fetus plays a key role in the establishment of a pregnancy. Memory T follicular helper (Tfh) cells have a central role in the regulation of the adaptive immune response. Much of our knowledge of memory Tfh cells' function comes from immune-related diseases. However, the true physiological characteristics of memory Tfh cells and their mode of action in pregnancy remain unclear. METHODS OF STUDY:Deciduas and blood were obtained from 25 recurrent spontaneous abortion (RSA) patients undergoing surgical abortion and 19 normal women in early pregnancy undergoing elective termination. RSA patients were grouped into antibody-positive patients and antibody-negative patients, respectively. The memory Tfh cells with the CD4+ CXCR5+ PD1+ CCR7- and CD4+ CXCR5+ PD-1+ ICOS+ phenotypes were assessed by flow cytometry. The B cells were evaluated by flow cytometry. A correlation analysis of the subsets of memory Tfh cells and B cells in antibody-positive RSA patients was made by the Pearson test. RESULTS:Memory Tfh cells with the CD4+ CXCR5+ PD1+ CCR7- and CD4+ CXCR5+ PD-1+ ICOS+ phenotypes showed a significant increase in RSA patients compared to women with a normal pregnancy who had chosen termination. When RSA patients were grouped according positive or negative antibodies, it was surprising to find that decidual CD4+ CXCR5+ PD-1+ ICOS+ memory Tfh cells significantly increased in RSA patients with positive antibody compared to RSA patients with negative antibody. However, the percentages of CD4+ CXCR5+ PD1+ CCR7- memory Tfh cells did not change in the deciduas of the two groups. Circulating and decidual B cells significantly increased in antibody-positive RSA patients compared with antibody-negative RSA patients. Correlation analysis indicated a strong association between the decidual CD4+ CXCR5+ PD-1+ ICOS+ memory Tfh cells and B cells in antibody-positive RSA patients. CONCLUSION:These new findings provide unique insights into memory Tfh cells in mediating feto-maternal immune tolerance.
    背景与目标:
  • 【锰增强磁共振成像描述急性和慢性疼痛模型中的大脑活动: 研究实验性自发性疼痛的新窗口?】 复制标题 收藏 收藏
    DOI:10.1016/j.neuroimage.2017.06.034 复制DOI
    作者列表:Devonshire IM,Burston JJ,Xu L,Lillywhite A,Prior MJ,Watson DJG,Greenspon CM,Iwabuchi SJ,Auer DP,Chapman V
    BACKGROUND & AIMS: :Application of functional imaging techniques to animal models is vital to understand pain mechanisms, but is often confounded by the need to limit movement artefacts with anaesthesia, and a focus on evoked responses rather than clinically relevant spontaneous pain and related hyperalgesia. The aim of the present study was to investigate the potential of manganese-enhanced magnetic resonance imaging (MEMRI) to measure neural responses during on-going pain that underpins hyperalgesia in pre-clinical models of nociception. As a proof of concept that MEMRI is sensitive to the neural activity of spontaneous, intermittent behaviour, we studied a separate positive control group undergoing a voluntary running wheel experiment. In the pain models, pain behaviour (weight bearing asymmetry and hindpaw withdrawal thresholds (PWTs)) was measured at baseline and following either intra-articular injection of nerve growth factor (NGF, 10µg/50µl; acute pain model, n=4 rats per group), or the chondrocyte toxin monosodium iodoacetate (MIA, 1mg/50µl; chronic model, n=8 rats per group), or control injection. Separate groups of rats underwent a voluntary wheel running protocol (n=8 rats per group). Rats were administered with paramagnetic ion Mn2+ as soluble MnCl2 over seven days (subcutaneous osmotic pump) to allow cumulative activity-dependent neural accumulation in the models of pain, or over a period of running. T1-weighted MR imaging at 7T was performed under isoflurane anaesthesia using a receive-only rat head coil in combination with a 72mm volume coil for excitation. The pain models resulted in weight bearing asymmetry (NGF: 20.0 ± 5.2%, MIA: 15 ± 3%), and a reduction in PWT in the MIA model (8.3 ± 1.5g) on the final day of assessment before undergoing MR imaging. Voxel-wise and region-based analysis of MEMRI data did not identify group differences in T1 signal. However, MnCl2 accumulation in the VTA, right Ce amygdala, and left cingulate was negatively correlated with pain responses (greater differences in weight bearing), similarly MnCl2 accumulation was reduced in the VTA in line with hyperalgesia (lower PWTs), which suggests reduced regional activation as a result of the intensity and duration of pain experienced during the 7 days of MnCl2 exposure. Motor cortex T1-weighted signal increase was associated with the distance ran in the wheel running study, while no between group difference was seen. Our data suggest that on-going pain related signal changes identified using MEMRI offers a new window to study the neural underpinnings of spontaneous pain in rats.
    背景与目标: : 将功能成像技术应用于动物模型对于了解疼痛机制至关重要,但通常由于需要限制麻醉的运动伪影,并且关注诱发反应而不是临床相关的自发性疼痛和相关的痛觉过敏而感到困惑。本研究的目的是研究锰增强磁共振成像 (MEMRI) 在持续疼痛期间测量神经反应的潜力,这种疼痛是伤害感受的临床前模型中痛觉过敏的基础。为了证明MEMRI对自发的间歇性行为的神经活动敏感,我们研究了一个单独的阳性对照组,并进行了自愿的跑步轮实验。在疼痛模型中,在基线和关节内注射神经生长因子 (NGF,10 µ g/50 µ l; 急性疼痛模型,每组n = 4只大鼠) 后测量疼痛行为 (负重不对称和后爪戒断阈值 (PWTs)),或软骨细胞毒素碘乙酸单钠 (MIA,1mg/50 µ l; 慢性模型,每组n = 8只大鼠) 或对照注射。不同组的大鼠接受了自愿轮跑方案 (每组n = 8只大鼠)。在7天内 (皮下渗透泵) 给大鼠以顺磁性离子Mn2作为可溶性MnCl2,以允许在疼痛模型中或在一段时间内累积活动依赖性神经积累。在异氟醚麻醉下,使用仅接收的大鼠头线圈和72毫米体积线圈进行激发,在7t下进行T1-weighted MR成像。疼痛模型导致负重不对称 (NGF: 20.0 ± 5.2%,MIA: 15 ± 3%),并且在进行MR成像之前的评估的最后一天,MIA模型中的PWT降低 (8.3 ± 1.5g)。对MEMRI数据进行的体素分析和基于区域的分析未识别T1信号的组差异。然而,VTA,右Ce杏仁核和左扣带回中的MnCl2积累与疼痛反应呈负相关 (负重差异更大),类似地,VTA中的MnCl2积累与痛觉过敏 (较低的PWTs) 相一致,这表明由于MnCl2暴露7天期间经历的疼痛强度和持续时间导致区域激活减少。在车轮运行研究中,运动皮层T1-weighted信号的增加与行驶距离有关,而组之间没有差异。我们的数据表明,使用MEMRI识别出的与疼痛相关的持续信号变化为研究大鼠自发性疼痛的神经基础提供了新的窗口。
  • 【肿瘤坏死因子-α 和氧化状态是无法解释的反复自然流产的重要参与因素。】 复制标题 收藏 收藏
    DOI:10.1515/CCLM.2007.138 复制DOI
    作者列表:El-Far M,El-Sayed IH,El-Motwally Ael-G,Hashem IA,Bakry N
    BACKGROUND & AIMS: BACKGROUND:Many factors have been implicated in the pathogenesis of unexplained recurrent spontaneous abortion (URSA). The current study was conducted to determine the possible role of antioxidant status and tumor necrosis factor-alpha (TNF-alpha) in URSA. METHODS:Reduced glutathione (GSH), glutathione reductase (GSH-R), glutathione peroxidase (GSH-PX), catalase (CAT), superoxide dismutase (SOD), nitric oxide (NO), malondialdehyde (MDA) and TNF-alpha were assayed in women suffering unexplained first-trimester abortions. Two groups were included, the first represented by 24 women with URSA (number of abortions 3-5) and the second included 16 women with URSA (number of abortions >5). The control group included 20 women within their first trimester of pregnancy and 20 non-pregnant healthy females within their follicular phase. RESULTS:We observed that the antioxidant levels measured were significantly lower in URSA groups than in the control group (p<0.05 for each comparison). Higher TNF-alpha, MDA and NO production were detected in URSA groups compared to controls (p<0.05 for each comparison). URSA 3-5 was associated with significantly higher levels of antioxidants and lower levels of TNF-alpha compared to levels in URSA >5. CONCLUSIONS:Impaired antioxidant defense and an increase in oxidative reactive species may be responsible for recurrent abortion due to possible damage produced by their generation. In addition, the level of TNF-alpha apparently contributes to the pathogenesis of URSA.
    背景与目标:
  • 【甲磺酸伊马替尼对豚鼠胃平滑肌自发性电和机械活动的影响。】 复制标题 收藏 收藏
    DOI:10.1038/bjp.2008.91 复制DOI
    作者列表:Hashitani H,Hayase M,Suzuki H
    BACKGROUND & AIMS: BACKGROUND AND PURPOSE:Effects of imatinib mesylate, a Kit receptor tyrosine kinase inhibitor, on spontaneous activity of interstitial cells of Cajal (ICC) and smooth muscles in the stomach were investigated. EXPERIMENTAL APPROACH:Effects of imatinib on spontaneous electrical and mechanical activity were investigated by measuring changes in the membrane potential and tension recorded from smooth muscles of the guinea-pig stomach. Its effects on spontaneous changes in intracellular concentration of Ca(2+) ([Ca(2+)](i)) (Ca(2+) transients) were also examined in fura-2-loaded preparations. KEY RESULTS:Imatinib (1-10 microM) suppressed spontaneous contractions and Ca(2+) transients. Simultaneous recordings of electrical and mechanical activity demonstrated that imatinib (1 microM) reduced the amplitude of spontaneous contractions without suppressing corresponding slow waves. In the presence of nifedipine (1 microM), imatinib (10 microM) reduced the duration of slow waves and follower potentials in the antrum and accelerated their generation, but had little affect on their amplitude. In contrast, imatinib reduced the amplitude of antral slow potentials and slow waves in the corpus. CONCLUSIONS AND IMPLICATIONS:Imatinib may suppress spontaneous contractions of gastric smooth muscles by inhibiting pathways that increase [Ca(2+)](i) in smooth muscles rather than by specifically inhibiting the activity of ICC. A high concentration of imatinib (10 microM) reduced the duration of slow waves or follower potentials in the antrum, which reflect activity of ICC distributed in the myenteric layers (ICC-MY), and suppressed antral slow potentials or corporal slow waves, which reflect activity of ICC within the muscle bundles (ICC-IM), presumably by inhibiting intracellular Ca(2+) handling.
    背景与目标:
  • 【两种小鼠稀位点缺失突变的分子分析: 自发稀lethal20J和辐射诱导的稀产前致死性Aa2等位基因。】 复制标题 收藏 收藏
    DOI:10.1128/mcb.10.2.501 复制DOI
    作者列表:Strobel MC,Seperack PK,Copeland NG,Jenkins NA
    BACKGROUND & AIMS: :The dilute (d) coat color locus of mouse chromosome 9 has been identified by more than 200 spontaneous and mutagen-induced recessive mutations. With the advent of molecular probes for this locus, the molecular lesion associated with different dilute alleles can be recognized and precisely defined. In this study, two dilute mutations, dilute-lethal20J (dl20J) and dilute prenatal lethal Aa2, have been examined. Using a dilute locus genomic probe in Southern blot analysis, we detected unique restriction fragments in dl20J and Aa2 DNA. Subsequent analysis of these fragments showed that they represented deletion breakpoint fusion fragments. DNA sequence analysis of each mutation-associated deletion breakpoint fusion fragment suggests that both genomic deletions were generated by nonhomologous recombination events. The spontaneous dl20J mutation is caused by an interstitial deletion that removes a single coding exon of the dilute gene. The correlation between this discrete deletion and the expression of all dilute-associated phenotypes in dl20J homozygotes defines the dl20J mutation as a functional null allele of the dilute gene. The radiation-induced Aa2 allele is a multilocus deletion that, by complementation analysis, affects both the dilute locus and the proximal prenatal lethal-3 (pl-3) functional unit. Molecular analysis of the Aa2 deletion breakpoint fusion fragment has provided access to a previously undefined gene proximal to d. Initial characterization of this new gene suggests that it may represent the genetically defined pl-3 functional unit.
    背景与目标: : 小鼠9号染色体的稀释 (d) 毛色基因座已被200多个自发和诱变剂诱导的隐性突变鉴定。随着该基因座分子探针的出现,可以识别并精确定义与不同稀等位基因相关的分子病变。在这项研究中,已经检查了两个稀释的突变,dilute-lethal20J (dl20J) 和稀释的产前致死性Aa2。使用Southern印迹分析中的稀释基因座基因组探针,我们在dl20J和Aa2 DNA中检测到独特的限制性片段。对这些片段的后续分析表明,它们代表了缺失断点融合片段。对每个突变相关的缺失断点融合片段的DNA序列分析表明,两个基因组缺失都是由非同源重组事件产生的。自发性dl20J突变是由间隙缺失引起的,该间隙删除了稀基因的单个编码外显子。这种离散缺失与dl20J纯合子中所有稀相关表型表达之间的相关性将dl20J突变定义为稀基因的功能性空等位基因。辐射诱导的Aa2等位基因是多基因座缺失,通过互补分析,会影响稀释基因座和近端产前致死3 (pl-3) 功能单位。Aa2缺失断点融合片段的分子分析提供了接近d的先前未定义基因的途径。该新基因的初始表征表明它可能代表遗传定义的pl-3功能单元。
  • 【波兰院外心脏骤停后自发循环恢复的相关因素: 一项为期一年的回顾性研究。】 复制标题 收藏 收藏
    DOI:10.1186/s12872-020-01571-5 复制DOI
    作者列表:Czapla M,Zielińska M,Kubica-Cielińska A,Diakowska D,Quinn T,Karniej P
    BACKGROUND & AIMS: BACKGROUND:Out-of-hospital cardiac arrest (OHCA) is a common reason for calls for intervention by emergency medical teams (EMTs) in Poland. Regardless of the mechanism, OHCA is a state in which the chance of survival is dependent on rapid action from bystanders and responding health professionals in emergency medical services (EMS). We aimed to identify factors associated with return of spontaneous circulation (ROSC). METHODS:The medical records of 2137 EMS responses to OHCA in the city of Wroclaw, Poland between July 2017 and June 2018 were analyzed. RESULTS:The OHCA incidence rate for the year studied was 102 cases per 100,000 inhabitants. EMS were called to 2317 OHCA events of which 1167 (50.4%) did not have resuscitation attempted on EMS arrival. The difference between the number of successful and failed cardiopulmonary resuscitations (CPRs) was statistically significant (p < 0.001). Of 1150 patients in whom resuscitation was attempted, ROSC was achieved in 250 (27.8%). Rate of ROSC was significantly higher when CPR was initiated by bystanders (p < 0.001). Patients presenting with asystole or pulseless electrical activity (PEA) had a higher risk of CPR failure (86%) than those with ventricular fibrillation/ventricular tachycardia (VF/VT). Patients with VF/VT had a higher chance of ROSC (OR 2.68, 1.86-3.85) than those with asystole (p < 0.001). The chance of ROSC was 1.78 times higher when the event occurred in a public place (p < 0.001). CONCLUSIONS:The factors associated with ROSC were occurrence in a public place, CPR initiation by witnesses, and presence of a shockable rhythm. Gender, age, and the type of EMT did not influence ROSC. Low bystander CPR rates reinforce the need for further efforts to train the public in CPR.
    背景与目标:
  • 【子宫颈一致性指数预测妊娠中期超声扫描无症状双胎妊娠自发性早产的预测价值: 一项前瞻性队列研究。】 复制标题 收藏 收藏
    DOI:10.3390/jcm9061784 复制DOI
    作者列表:van der Merwe J,Couck I,Russo F,Burgos-Artizzu XP,Deprest J,Palacio M,Lewi L
    BACKGROUND & AIMS: :Novel transvaginal ultrasound (TVU) markers have been proposed to improve spontaneous preterm birth (sPTB) prediction. Preliminary results of the cervical consistency index (CCI), uterocervical angle (UCA), and cervical texture (CTx) have been promising in singletons. However, in twin pregnancies, the results have been inconsistent. In this prospective cohort study of asymptomatic twin pregnancies assessed between 18+0-22+0 weeks, we evaluated TVU derived cervical length (CL), CCI, UCA, and the CTx to predict sPTB < 34+0 weeks. All iatrogenic PTB were excluded. In the final cohort of 63 pregnancies, the sPTB rate < 34+0 was 16.3%. The CCI, UCA, and CTx, including the CL was significantly different in the sPTB < 34+0 weeks group. The best area under the receiver operating characteristic curve (AUC) for sPTB < 34+0 weeks was achieved by the CCI 0.82 (95%CI, 0.72-0.93), followed by the UCA with AUC 0.72 (95%CI, 0.57-0.87). A logistic regression model incorporating parity, chorionicity, CCI, and UCA resulted in an AUC of 0.91 with a sensitivity of 55.3% and specificity of 88.1% for predicting sPTB < 34+0. The CCI performed better than other TVU markers to predict sPTB < 34+0 in twin gestations, and the best diagnostic accuracy was achieved by a combination of parity, chorionicity, CCI, and UCA.
    背景与目标: : 已经提出了新型的经阴道超声 (TVU) 标记物来改善自发早产 (sPTB) 的预测。宫颈一致性指数 (CCI),子宫角 (UCA) 和宫颈纹理 (CTx) 的初步结果在单例中是有希望的。然而,在双胎妊娠中,结果并不一致。在这项在18 0-22 0周之间评估的无症状双胎妊娠的前瞻性队列研究中,我们评估了TVU衍生的宫颈长度 (CL),CCI,UCA和CTx来预测sPTB <34 0周。排除所有医源性PTB。在63例妊娠的最终队列中,sPTB率 <34 + 0为16.3%。在sPTB <34 0周组中,CCI,UCA和CTx (包括CL) 有显着差异。通过CCI 0.82 (95% CI,0.72-0.93) 实现了sPTB <34 + 0周的接收器工作特性曲线 (AUC) 下的最佳面积,其次是具有AUC 0.72的UCA (95% CI,0.57-0.87)。结合了奇偶性,绒毛膜性,CCI和UCA的逻辑回归模型导致0.91的AUC,其55.3% 的敏感性和88.1% 的特异性预测sPTB <34 0。CCI在预测双胎中sPTB <34 0方面的表现优于其他TVU标记,并且通过奇偶性,绒毛膜性,CCI和UCA的组合获得了最佳的诊断准确性。
  • 【自发性冠状动脉夹层的临床特征,处理和预后。】 复制标题 收藏 收藏
    DOI:10.1161/CIRCULATIONAHA.112.105718 复制DOI
    作者列表:Tweet MS,Hayes SN,Pitta SR,Simari RD,Lerman A,Lennon RJ,Gersh BJ,Khambatta S,Best PJ,Rihal CS,Gulati R
    BACKGROUND & AIMS: BACKGROUND:Spontaneous coronary artery dissection (SCAD) is an acute coronary event of uncertain origin. Clinical features and prognosis remain insufficiently characterized. METHODS AND RESULTS:A retrospective single-center cohort study identified 87 patients with angiographically confirmed SCAD. Incidence, clinical characteristics, treatment modalities, in-hospital outcomes, and long-term risk of SCAD recurrence or major adverse cardiac events were evaluated. Mean age was 42.6 years; 82% were female. Extreme exertion at SCAD onset was more frequent in men (7 of 16 versus 2 of 71; P<0.001), and postpartum status was observed in 13 of 71 women (18%). Presentation was ST-elevation myocardial infarction in 49%. Multivessel SCAD was found in 23%. Initial conservative management (31 of 87) and coronary artery bypass grafting (7 of 87) were associated with an uncomplicated in-hospital course, whereas percutaneous coronary intervention was complicated by technical failure in 15 of 43 patients (35%) and 1 death. During a median follow-up of 47 months (interquartile range, 18-106 months), SCAD recurred in 15 patients, all female. Estimated 10-year rate of major adverse cardiac events (death, heart failure, myocardial infarction, and SCAD recurrence) was 47%. Fibromuscular dysplasia of the iliac artery was identified incidentally in 8 of 16 femoral angiograms (50%) undertaken before closure device placement and in the carotid arteries of 2 others with carotid dissection. CONCLUSIONS:SCAD affects a young, predominantly female population, frequently presenting as ST-elevation myocardial infarction. Although in-hospital mortality is low regardless of initial treatment, percutaneous coronary intervention is associated with high rates of complication. Risks of SCAD recurrence and major adverse cardiac events in the long term emphasize the need for close follow-up. Fibromuscular dysplasia is a novel association and potentially causative factor.
    背景与目标:
  • 【Is-/-小鼠的自发性食物过敏独立于fc ε ri介导的肥大细胞激活。】 复制标题 收藏 收藏
    DOI:10.1111/all.13219 复制DOI
    作者列表:Lexmond WS,Goettel JA,Sallis BF,McCann K,Rings EHHM,Jensen-Jarolim E,Nurko S,Snapper SB,Fiebiger E
    BACKGROUND & AIMS: BACKGROUND:Food allergies are a growing health problem, and the development of therapies that prevent disease onset is limited by the lack of adjuvant-free experimental animal models. We compared allergic sensitization in patients with food allergy or Wiskott-Aldrich syndrome (WAS) and defined whether spontaneous disease in Was-/- mice recapitulates the pathology of a conventional disease model and/or human food allergy. METHODS:Comparative ImmunoCAP ISAC microarray was performed in patients with food allergy or WAS. Spontaneous food allergy in Was-/- mice was compared to an adjuvant-based model in wild-type mice (WT-OVA/alum). Intestinal and systemic anaphylaxis was assessed, and the role of the high-affinity IgE Fc receptor (FcεRI) in allergic sensitization was evaluated using Was-/- Fcer1a-/- mice. RESULTS:Polysensitization to food was detected in both WAS and food-allergic patients which was recapitulated in the Was-/- model. Oral administration of ovalbumin (OVA) in Was-/- mice induced low titers of OVA-specific IgE compared to the WT-OVA/alum model. Irrespectively, 79% of Was-/- mice developed allergic diarrhea following oral OVA challenge. Systemic anaphylaxis occurred in Was-/- mice (95%) with a mortality rate >50%. Spontaneous sensitization and intestinal allergy occurred independent of FcεRI expression on mast cells (MCs) and basophils. CONCLUSIONS:Was-/- mice provide a model of food allergy with the advantage of mimicking polysensitization and low food-antigen IgE titers as observed in humans with clinical food allergy. This model will facilitate studies on aberrant immune responses during spontaneous disease development. Our results imply that therapeutic targeting of the IgE/FcεRI activation cascade will not affect sensitization to food.
    背景与目标:
  • 【怀孕前体重和妊娠体重增加对青春期妊娠自发性早产和妊娠持续时间的影响。】 复制标题 收藏 收藏
    DOI:10.1002/ajhb.1310010603 复制DOI
    作者列表:Scholl TO,Hediger ML,Salmon RW,Belsky DH,Ances IG
    BACKGROUND & AIMS: :We examined the influence of two measures of maternal nutritional status: prepregnant body mass (kilograms/meter2 ) and Weight gain during pregnancy (adjusted for duration of gestation) on spontaneous preterm delivery (<37 completed Weeks' gestation) and duration of gestation, as well as on low birthweight (<2,500 grams) and small-for-gestational-age (SGA) in pregnant adolescents. Inadequate Weight gain for gestation increased the risk of spontaneous preterm delivery when prematurity was reckoned by the obstetric estimate (Adjusted Odds Ratio, AOR = 1.75 95% CI 1.22-2.50) or from the mother's LMP (AOR = 1.49 95% CI 1.10-2.02). In linear models, gestation duration was significantly reduced, by more than half a week, when reckoned from eiter estimate of gestation. However, the association between preterm birth or gestation duration and prepregnancy body mass was not consistent and depended on the method of estimating gestation. Low birthweight and SGA were each significantly associated with inadequate weight gain during pregnancy as well as with prepregnant body mass. These results suggest that current maternal nutritional status, as measured by weight gain during pregnancy, may influence preterm delivery and gestation duration. The inconsistent results obtained with prepregnancy body mass may reflect a size bias inherent in the obstetric estimate of gestation, rather than effects of prepregnant maternal nutritional status on gestation.
    背景与目标: : 我们研究了两种母亲营养状况指标的影响: 怀孕前体重 (千克/米2) 和怀孕期间体重增加 (根据妊娠持续时间进行调整) 对自发早产 (<37个完整妊娠周) 和妊娠持续时间的影响,以及怀孕青少年的低出生体重 (<2,500克) 和小于胎龄儿 (SGA)。当产科估计值 (调整后的比值比,AOR = 1.75 95% CI 1.22-2.50) 或母亲的LMP (AOR = 1.49 95% CI 1.10-2.02) 估计早产时,妊娠体重增加不足会增加自发早产的风险。在线性模型中,根据eiter对妊娠的估计,妊娠持续时间显着减少了半周以上。然而,早产或妊娠持续时间与孕前体重之间的关联并不一致,并且取决于估计妊娠的方法。低出生体重和SGA均与怀孕期间体重增加不足以及怀孕前的体重显着相关。这些结果表明,以怀孕期间体重增加衡量的当前孕产妇营养状况可能会影响早产和妊娠持续时间。与孕前体重获得的不一致结果可能反映了产科妊娠估计中固有的大小偏差,而不是孕前孕妇营养状况对妊娠的影响。

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