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991.
目的 探讨肝黏膜相关淋巴组织淋巴瘤的临床病理特征。方法 对1例罕见多脏器恶性肿瘤术后肝黏膜相关淋巴瘤病例结合文献进行临床、病理和免疫组化分析。结果 患者于8年和3年前先后发生胃恶性间质瘤、阴囊阴茎皮肤湿疹样癌,有长期化疗史。肿瘤组织学以单核样B细胞为主,并有淋巴滤泡和淋巴上皮病变形成。免疫表型示瘤细胞CD45、CD79α、CD20阳性,CD5、CD10、ALK、TdT阴性,bcl—2、Ki—67少数肿瘤细胞阳性。结论 肝黏膜相关淋巴瘤可以发生于多脏器恶性肿瘤术后,其发病可能与长期使用免疫抑制剂有关,诊断本病时需与肝继发性淋巴瘤及肝的炎性假瘤鉴别。 相似文献
992.
Gabrielle T. Lemire Éliane Beauregard‐Lacroix Philippe M. Campeau Stefan Parent Marjolaine Roy‐Beaudry Dorothée Dal Soglio Andrée Grignon Françoise Rypens Sandrine Wavrant Marie‐Ange Delrue 《American journal of medical genetics. Part A》2020,182(4):664-672
Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte‐Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty‐six fetuses with VD were identified at a mean gestational age of 20 weeks. Forty‐seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%–29.3%]). Fifty‐three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty‐four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non‐isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD. 相似文献
993.
目的 探讨全关节镜下微创复位固定术治疗SandersⅡ、Ⅲ型跟骨关节内骨折的临床疗效。方法 前瞻性随机对照研究。纳入2017年3月—2020年12月徐州仁慈医院足踝外科Sanders Ⅱ、Ⅲ型跟骨骨折患者40例,其中男36例、女4例,年龄18~58(39.6±10.8)岁,左侧22例、右侧18例,Sanders Ⅱ型16例、Ⅲ型24例。40例患者数字表法随机分为关节镜组(采用关节镜下跟骨关节内骨折微创复位、经皮螺钉固定术治疗)、大“L”形切口组(采用传统的大“L”形切口跟骨骨折复位钢板内固定术治疗),每组20例。观察指标:(1)比较2组患者性别、年龄、体质量指数(BMI)、骨折类型、术前美国足踝外科学协会(AOFAS)踝-后足功能评分等基线资料差异;(2)比较2组患者手术切口长度、手术时间、术中出血量、住院时间、术后切口愈合情况等围术期资料差异;(3)术后观察局部有无麻木感、是否钢板外露、切口皮肤坏死、术后1年是否有创伤性关节炎等手术并发症情况;(4)对比分析2组患者末次随访时AOFAS踝-后足功能评分、Gissnae角和Bohler角。结果 (1)2组患者性别、年龄、BMI、骨折类型、术前AOFAS踝-后足功能评分等基线资料比较,差异均无统计学意义(P值均>0.05)。(2)关节镜组患者的切口长度(0.94±0.08)cm、术中出血量(7.20±1.98)mL、手术时间(41.45±9.96)min、住院时间(8.45±2.01)d,大“L”形切口组患者的切口长度(14.35±1.63)cm、术中出血量(27.35±10.35)mL、手术时间(90.65±12.08)min、住院时间(17.15±6.72)d,关节镜组优于大“L”形切口组,差异均有统计学意义(t=-36.70、-8.54、-14.04、-5.54,P值均<0.001)。(3)术后平均随访12.3个月。术后关节镜组切口均甲级愈合,无创伤性关节炎、足背皮肤麻木。大“L”形切口组20例中,18例患者切口甲级愈合,2例患者切口皮缘坏死、钢板外露,予腓肠神经营养逆行岛状皮瓣修复后伤口愈合;有4例患者术后感足背外侧麻木,经治疗分别于术后8~14个月痊愈。(4)末次随访时AOFAS踝-后足功能评分关节镜组为(92.10±3.16)分、大“L”形切口组为(91.3±2.45)分,术后2组患者跟骨的Gissnae角和Bohler角均在正常范围内,组间比较差异均无统计学意义(P值均>0.05)。结论 与传统的切开复位内固定术相比较,全关节镜下微创手术治疗Sanders Ⅱ、Ⅲ型跟骨关节内骨折,具有手术切口小、手术时间短、内固定牢固、切口愈合好、疗程短、术后瘢痕不明显、功能恢复快等优势。 相似文献
994.
Mohammad M. Al‐Qattan Fowzan S. Alkuraya 《American journal of medical genetics. Part A》2019,179(2):266-279
Cenani–Lenz (C–L) syndrome is characterized by oligosyndactyly, metacarpal synostosis, phalangeal disorganization, and other variable facial and systemic features. Most cases are caused by homozygous and compound heterozygous missense and splice mutations of the LRP4 gene. Currently, the syndrome carries one OMIM number (212780). However, C–L syndrome‐like phenotypes as well as other syndactyly disorders with or without metacarpal synostosis/phalangeal disorganization are also known to be associated with specific LRP4 mutations, adenomatous polyposis coli (APC) truncating mutations, genomic rearrangements of the GREM1‐FMN1 locus, as well as FMN1 mutations. Surprisingly, patients with C–L syndrome‐like phenotype caused by APC truncating mutations have no polyposis despite the increased levels of β catenin. The LRP4 and APC proteins act on the WNT (wingless‐type integration site family) canonical pathway, whereas the GREM‐1 and FMN1 proteins act on the bone morphogenetic protein (BMP) pathway. In this review, we discuss the different mutations associated with C–L syndrome, classify its clinical features, review familial adenomatous polyposis caused by truncating APC mutations and compare these mutations to the splicing APC mutation associated with syndactyly, and finally, explore the pathophysiology through a review of the cross talks between the WNT canonical and the BMP antagonistic pathways. 相似文献
995.
Apolipoprotein E modulates immune activation by acting on the antigen-presenting cell 总被引:3,自引:0,他引:3
Apolipoprotein E (ApoE) is synthesized by a variety of cells including macrophages. These cells activate T lymphocytes by antigen presentation, while the T-cell cytokine, interferon-gamma, inhibits macrophage ApoE expression. ApoE inhibits T-cell proliferation in culture but its role in immune responses has been unclear. The ApoE-deficient (E0) mouse permits an evaluation of the immunological role of ApoE. We have analysed T-cell responses to an exogenous antigen (ovalbumin) and polyclonal mitogen (concanavalin A) in E0 and ApoE+/+ mice. Macrophages of E0 mice stimulated T-cell activation more effectively as antigen-presenting cells than macrophages from ApoE+/+ mice. Both proliferation and interferon-gamma secretion were enhanced in T cells activated in the context of antigen-presenting cells from E0 mice. Since the macrophage-T-cell interaction depends on interactions between cell surface molecules, we assessed the expression of such molecules after in vivo stimulation with interferon-gamma. This treatment caused an increased expression of the co-stimulatory surface proteins CD40 and CD80, and also of the major histocompatibility complex class II molecules I-Ab on macrophages of E0 mice compared with ApoE+/+. Our data suggest that ApoE inhibits T-cell activation by reducing the density of immune stimulatory proteins on antigen-presenting cells. 相似文献
996.
LJM, a 41-year-old schizophrenic Chinese man with bilateral anterior cingulate gyrus (Brodmann's area 24) lesions and also a small lesion in right amygdala after an operation, was compared with normal as well as brain-damaged and schizophrenic controls in identification of morphed facial expressions of six basic emotions. In repeated administrations of the test for recognition of facial emotions, over a 1- year period, LJM performed significantly worse for expressions of fear compared with the three groups of controls. Recognition of other emotions was not significantly different from that of the controls, except that his recognition of disgust during the first session (but not in two subsequent sessions) was worse than normal and brain-damaged controls but not worse than schizophrenic controls. The dissociation between recognition of fear and other emotions supported the view that the brain has separable networks for processing different emotions, and that the right amygdala as well as the anterior part of bilateral cingulate gyrus are possible substrates involved in the special network for perception of fear. The results from the various groups of Chinese subjects indicate that they perceive emotions in a categorical manner, and that the six basic emotions are likely to be cross-cultural universals. 相似文献
997.
ELIZABETH A. JONES MARK CLEMENT‐JONES OLIVER F. W. JAMES DAVID I. WILSON 《Journal of anatomy》2001,198(5):555-559
Alpha‐fetoprotein (AFP) is the major serum protein during development. AFP is one of the earliest proteins to be synthesised by the embryonic liver. The synthesis of AFP decreases dramatically after birth and only trace amounts are expressed in the adult liver. The tissue distribution of AFP in early human embryogenesis has not been defined. We have studied the expression pattern of AFP mRNA in human and mouse embryos by in situ hybridisation. In humans, AFP is expressed in the hepatic diverticulum at 26 d postovulation as it differentiates from the foregut endoderm (i.e. in the most primitive hepatocytes). It is also expressed in the endoderm of the gastrointestinal tract and in the yolk sac at this age. AFP is subsequently expressed in the mesonephros and transiently in the developing pancreas. In the mouse, no expression of AFP was observed in the mesonephros but other sites of expression were similar. Thus AFP has a distinct temporospatial expression pattern during the embryonic period and this differs between human and mouse species. It is interesting that AFP is expressed by tumours such as primitive gastrointestinal, renal cell and pancreatic tumours as well as those of hepatocyte origin. This distribution reflects the sites of AFP expression during development. 相似文献
998.
Urszula Krzych Robert Schwenk Mimi Guebre‐Xabier Peifang Sun Dupeh Palmer Katherine White Isaac Chalom 《Immunological reviews》2000,174(1):123-134
Summary: Exposure to irradiated Plasmodium sporozoites (g‐spz) results in protection against malaria. Like infectious spz, g‐spz colonize hepatocytes to undergo maturation. Disruption of liver stage development prevents the generation of protection, which appears, therefore, to depend on liver stage antigens. Although some mechanisms of protection have been identified, they do not include a role for intrahepatic mononuclear cells (IHMC). We demonstrated that P. berghei g‐spz‐immune murine IHMC adoptively transfer protection to naive recipients. Characterization of intrahepatic CD4+ T cells revealed an immediate, albeit transient, response to g‐spz, while the response of CD8+ T cells is delayed until acquisition of protection. It is presumed that activated CD8+ T cells home to the liver to die; g‐spz‐induced CD8+CD45RBloCD44hi T cells, however, persist in the liver, but not the spleen, during protracted protection. The association between CD8+CD45RBloCD44hi T cells and protection has been verified using MHC class I and CD1 knockout mice and mice with disrupted liver stage parasites. Based on kinetic studies, we propose that interferon‐g, presumably released by intrahepatic effector CD8+ T cells, mediates protection; the persistence of CD8+ T cells is, in turn, linked to Plasmodium antigen depots and cytokines released by CD4+ T cells and/or NK T cells. 相似文献
999.
Osamu Kawamura Dian‐Sheng Wang Yi‐Xin Liang Akihiro Hasegawa Chika Saga Angelo Visconti 《Food and Agricultural Immunology》1994,6(4):465-467
A survey of AFM1 residues in 58 commercial milk powder samples was carried out using an enzyme‐linked immunosorbent assay (ELISA) based on a monoclonal antibody against aflatoxin M1 (AFM1). The samples were collected from the USA (10), China (28), Italy (14), New Zealand (3) and Poland (3). The ELISA was performed without the need for clean‐up procedures. The data revealed that 4 (US), 21 (Chinese) and 1 (Polish) samples were positive for AFM1, with an average of 95.5, 102.8 and 85.0 pg g‐1 of the AFM1respectively. 相似文献
1000.
Alessandra Renieri Maria Teresa Bassi Lucia Galli Jing Zhou Marisa Giani Mario de Marchi Andrea Ballabio 《Human mutation》1994,4(3):195-198
Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene. The association of AS with diffuse leiomyomatosis, a benign proliferation of smooth muscle that occurs most often in the esophagus, trachea, and female genitalia, has been reported. Recently, a deletion involving both the COL4A5 and COL4A6 genes has been reported in four unrelated families. We report an additional case with Alport's syndrome associated with leiomyomatosis carrying a deletion of both COL4A5 and COL4A6 genes. A detailed characterization of the genomic region involved in the deletion event has been performed. Our results demonstrate that the deletion removed exon l of COL4A5 and exons l and 2 of COL4A6. © 1994 Wiley-Liss, Inc. 相似文献