basement membrane

基底膜
  • 文章类型: Case Reports
    从乳房外来源转移到乳房的情况极为罕见,卵巢,主要是高级别浆液性癌,是最常见的起源。我们报告了一名48岁女性晚期卵巢粘液性癌的乳腺转移病例,该病例迄今未在文献中报道。该病例以其以乳晕皮疹为特征的非典型表现值得注意,临床提示乳头Paget病。这种独特的临床情况,再加上组织病理学检查显示原位癌成分,在辨别肿瘤起源方面提出了诊断挑战。我们强调需要提高病理学家的认识,以避免将转移性癌误诊为原发性乳腺肿瘤,具有重大临床意义的潜在陷阱。
    Metastases to the breast from extramammary sources are extremely rare, with the ovary, primarily high-grade serous carcinoma, being the most common origin. We report a case of breast metastases from advanced stage ovarian mucinous carcinoma in a 48-year-old female- a case hitherto unreported in the literature. The case is noteworthy for its atypical presentation marked by an areolar rash, clinically suggestive of Paget disease of the nipple. This unique clinical scenario, coupled with histopathological examination revealing in-situ-like carcinoma component, posed a diagnostic challenge in discerning the tumour origin. We emphasize the need for heightened awareness among pathologists to avoid misdiagnosing metastatic carcinomas as primary breast tumours, a potential pitfall with significant clinical implications.
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  • 文章类型: Journal Article
    背景:探讨椭球区(EZ)相关角度参数对原发性黄斑裂孔手术结果的预测价值。
    方法:这是一项回顾性研究。纳入2018年至2021年诊断为大黄斑裂孔(MH)(最小直径>500μm)的患者。所有患者都接受了25号平面玻璃体切除术,内部限制膜(ILM)剥离和空气填塞。术前和术后2周测量频域OCT(SD-OCT)和最佳矫正视力(BCVA)。通过ImageJ测量经典和角度相关参数。角度规则性(AR)定义为垂直和水平方向的角度参数的标准偏差。
    结果:纳入76只眼进行分析;24只眼在术后2周显示未闭合的黄斑裂孔,52只眼显示闭合的黄斑裂孔。术前,MLD(P<0.001),初次手术后未能闭合孔的患者的BD(P=0.009)和EZ/ELM破裂直径(P=0.002和0.025)明显大于成功的患者。EZ-MH(P=0.018),EZ-NFL(P=0.006),EZ-GCL(P=0.004),EZ-INL(P=0.002),EZ-OPL(P=0.009)和EZ-ONL(P=0.011)角均小于未闭合孔患者。EZ-NFL的AR(P=0.009),EZ-GCL(P=0.009),EZ-OPL(P=0.023),未闭合患者的EZ-ONL(P=0.048)和Basal-NFL(P=0.030)角度明显大于闭合组。EZ-NFL(P=0.015),EZ-GCL(P=0.004),EZ-INL(P<0.001),EZ-OPL(P<0.001),EZ-ONL(P<0.001),未闭孔患者的基底角度(P=0.023)和基底NFL角度(P<0.001)在手术后明显增大。
    结论:黄斑裂孔大,EZ相关角度和AR角度增加的患者在原发性MH手术后更有可能出现不成功的结果。因此,与EZ相关的角度可能是预测手术结果的有价值的参数。
    BACKGROUND: To explore the predictive value of Ellipsoid Zone (EZ) -related angle parameters for the outcome of primary macular hole surgery.
    METHODS: This was a retrospective study. Patients diagnosed with large macular hole (MH) (minimum diameter > 500 μm) between 2018 and 2021 were enrolled. All patients underwent 25-gauge pars plana vitrectomy, internal limiting membrane (ILM) peeling and air tamponade. Spectral-domain OCT (SD-OCT) and best corrected visual acuity (BCVA) were measured in preoperative and 2-week post-operative. Classic and angle related parameters were measured via ImageJ. Angle regularity (AR) were defined as the standard deviation of the angle parameters in vertical and horizontal direction.
    RESULTS: Seventy-six eyes were included for analysis; 24 eyes showed an unclosed macular hole at the 2-week postoperative and 52 eyes showed a closed hole. Preoperatively, MLD (P < 0.001), BD (P = 0.009) and diameter of EZ/ELM disruption (P = 0.002 and 0.025) in patients failed to close the hole after primary surgery were significantly larger than those succeeded. EZ-MH (P = 0.018), EZ-NFL (P = 0.006), EZ-GCL (P = 0.004), EZ-INL (P = 0.002), EZ-OPL (P = 0.009) and EZ-ONL (P = 0.011) angles were smaller in patients with unclosed hole. AR of the EZ-NFL (P = 0.009), EZ-GCL (P = 0.009), EZ-OPL (P = 0.023), EZ-ONL (P = 0.048) and Basal-NFL (P = 0.030) angles among the unclosed patients were significantly larger than those of the closed group. EZ-NFL (P = 0.015), EZ-GCL (P = 0.004), EZ-INL (P < 0.001), EZ-OPL (P < 0.001), EZ-ONL (P < 0.001), Basal (P = 0.023) and Basal-NFL (P < 0.001) angles of hole-unclosed patients enlarged significantly after the surgery.
    CONCLUSIONS: Patients with large macular holes and an increased EZ-related angle and angle AR are more likely to experience unsuccessful outcomes following primary MH surgery. Therefore, EZ-related angles hold potential as valuable parameters for predicting the surgical outcome.
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  • 文章类型: Case Reports
    COVID-19感染的肾脏受累是多种多样的,并恶化其预后和预后。然而,COVID-19感染与肾小球肾炎的相关性异常。我们报道了一名46岁的COVID-19女性,在发病两周后患有急性肾损伤和ANCA相关性肾小球肾炎。肾脏活检显示新月体肾小球肾炎和抗肾小球基底膜抗体(GBM-Ab)的存在。她接受类固醇和口服环磷酰胺治疗,反应良好,不需要血浆置换。血浆抗GBM-Abs为阴性。这种情况表明肾脏中存在抗GBM-Abs,与COVID-19肺损伤在时间上相关。血浆抗体的缺乏可能是由于短暂的生产和肾小球吸附,但致病作用不明。
    Renal involvement in COVID-19 infection is varied and worsens its outcome and prognosis. However, the association of COVID-19 infection with glomerulonephritis is exceptional. We report a 46-year-old woman with COVID-19 who had an acute kidney injury and ANCA associated glomerulonephritis two weeks after the onset of the disease. The kidney biopsy showed a crescentic glomerulo-nephritis and the presence of anti-glomerular basement membrane antibodies (GBM-Abs). She was treated with steroids and oral cyclophosphamide with good response without requiring plasmapheresis. Plasma anti GBM-Abs were negative. This case suggests that the presence of anti-GBM-Abs in the kidney, was temporally related to COVID-19 pulmonary damage. The absence of plasma antibodies is probably due to transient production and glomerular adsorption, but with unknown pathogenic role.
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  • 文章类型: Review
    背景:历史上,由于缺乏明显的临床症状,Alport综合征,儿童中普遍存在的遗传性肾病,也是肾衰竭的主要原因,经常被误诊为其他肾脏疾病。
    方法:本文对一例诊断为Alport综合征的患儿的临床资料进行了全面回顾和分析,其中以肾病综合征为主要表现。在这种情况下,男性儿童从6岁开始表现出症状,最初被诊断为肾病综合征。因此,口服类固醇药物,证明无效。由于持续性蛋白尿和镜下血尿,进行了肾活检.免疫荧光染色显示IV型胶原的α3,α4和α5链没有异常表达。值得注意的是,电子显微镜显示基底膜部分撕裂和蛛网膜。遗传测试表明半合子COL4A5受体剪接位点突变c.4707-1(IVS50)G>A,继承自母亲。
    结论:这个特定的突变位点,这是同类报道中的第一个,为现有的Alport综合征基因突变谱增加了有价值的信息。因此,它强调了临床医生加深对罕见肾脏疾病的理解的重要性,有助于提高诊断准确性和改善患者护理。
    Historically, due to the lack of distinct clinical symptoms, Alport syndrome, a hereditary kidney disease prevalent in children and a leading cause of kidney failure, has often been misdiagnosed as other kidney conditions.
    This article presents a comprehensive review and analysis of clinical data concerning a child diagnosed with Alport syndrome, where nephrotic syndrome served as the primary manifestation. The male child in this case exhibited symptoms starting at the age of 6, initially diagnosed as nephrotic syndrome. Consequently, oral steroid medication was administered, proving ineffective. Due to persistent proteinuria and microscopic hematuria, a renal biopsy was performed. Immunofluorescence staining revealed no abnormal expression of the α3, α4, and α5 chains of type IV collagen. Notably, electron microscopy revealed the basement membrane to be partially torn and arachnoid. Genetic testing indicated a hemizygous COL4A5 acceptor-splice-site mutation c.4707-1(IVS50)G > A, inherited from his mother.
    This specific mutated locus, being the first of its kind reported, adds valuable information to the existing gene mutation spectrum of Alport syndrome. Consequently, it emphasizes the importance for clinicians to deepen their understanding of rare kidney diseases, contributing to enhanced diagnostic accuracy and improved patient care.
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  • 文章类型: Journal Article
    目的:本研究的目的是确定巨大的特发性黄斑裂孔的闭合率,行玻璃体切割术和360度带蒂内翻内界膜瓣治疗,不采用正面朝下姿势,并确定视力改善,黄斑裂孔闭合的类型,和外部视网膜完整性作为次要结果。
    方法:本回顾性病例系列分析了所有接受玻璃体切除术治疗的患者,360度带蒂倒置内界膜瓣,还有气体填塞,术后没有正面朝下的姿势。年龄,性别,视力下降的时间,其他眼病,收集晶状体状态。在术前和术后随访期间(术后15天和2个月)记录最佳矫正视力和光学相干断层扫描结果。
    结果:这项研究纳入了19例患者的20只眼,平均年龄是66岁.手术后2个月进行的光学相干断层扫描显示19只(95%)眼的孔闭合。中位最佳矫正视力从术前+1.08改善至术后2个月+0.66LogMAR(p<0.001),在早期治疗糖尿病视网膜病变研究图表上,视力改善的中位数为20个字母(0.4LogMAR)。观察到V(47.36%)和U(52.63%)类型的闭合。
    结论:360度带蒂倒置内界膜瓣技术,没有面朝下的姿态,提供了很高的闭合率(95%),外层恢复,V型和U型中央凹闭合轮廓,除了在大多数黄斑裂孔(甚至黄斑裂孔>650μm)的情况下的视力改善。对于无法进行传统的术后面朝下定位进行大黄斑孔治疗的患者,该技术可能是可行的替代方法。
    This study aimed to determine closure rates of large idiopathic macular holes treated with pars plana vitrectomy and 360-degree pedicled inverted internal limiting membrane flap without face-down posturing and define visual improvement, types of macular hole closure, and external retina integrity as secondary outcomes.
    This retrospective case series analyzed all patients who were treated by vitrectomy, 360-degree pedicled inverted internal limiting membrane flap, and gas tamponade, without face-down posturing postoperatively. Age, sex, time of visual acuity reduction, other ocular pathologies, and lens status were collected. The best-corrected visual acuity and optical coherence tomography results were recorded during pre- and postoperative follow-up examinations (15 days and 2 months after surgery).
    This study enrolled 20 eyes of 19 patients, and the mean age was 66 years. Optical coherence tomography performed 2 months after surgery revealed hole closure in 19 (95%) eyes. The median best-corrected visual acuity improved from +1.08 preoperatively to +0.66 LogMAR 2 months postoperatively (p<0.001), with a median of 20 letters of visual improvement (0.4 LogMAR) on the Early Treatment Diabetic Retinopathy Study chart. V (47.36%)- and U (52.63%)-types of closure were observed.
    The 360-degree pedicled inverted internal limiting membrane flap technique, without face-down posturing, provided a high closure rate (95%), external layer recovery, and V- and U-type foveal closure contours, in addition to visual improvement in most cases of large macular holes (even macular holes >650 μm). This technique may be a viable alternative to patients in whom traditional postoperative face-down positioning for large macular hole treatment is not possible.
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  • DOI:
    文章类型: Case Reports
    异基因造血干细胞移植(HSCT)后,移植物抗宿主病(GVHD)可能发展,可能会影响多个器官。尽管HSCT后肾病综合征的出现很少见,有时它发生在GVHD的设置。由于GVHD引起的蛋白尿患者的肾活检最常见的组织学发现是膜性肾小球肾炎(MGN)。然而,在肾小管基底膜(TBM)和肾小球基底膜(GBM)中免疫复合物沉积的报道极为罕见。在这里,我们介绍了一名65岁的女性,六年前患有HSCT,她因肾病综合征被转诊到德黑兰的Shariati医生医院。二级血清学实验室检查均正常。组织病理学研究显示弥漫性GBM和TBM增厚,尖峰形成,光镜下肾小管间质区炎性单核细胞浸润和急性肾小管损伤。免疫荧光染色显示GBM中的免疫复合物沉积,系膜细胞,和TBM。DOI:10.52547/ijkd.7550。
    Following allogenic hematopoietic stem cell transplantation (HSCT), graft-versus-host disease (GVHD) may develop which may affect several organs. Although the presence of nephrotic syndrome after HSCT is rare, sometimes it occurs in the setting of GVHD. The most common histological finding on kidney biopsy of patients with proteinuria owing to GVHD is membranous glomerulonephritis (MGN). However, reports of immune complex deposition in the tubular basement membrane (TBM) and glomerular basement membrane (GBM) are extremely rare. Herein we present a 65-year-old female with a history of HSCT at six years ago who was referred to Dr.Shariati Hospital in Tehran with nephrotic syndrome. Secondary serologic laboratory tests were all normal. The histopathologic study indicated diffuse GBM and TBM thickening, spike formation, infiltration of inflammatory mononuclear cells in tubulointerstitial area and acute tubular injury in light microscopy. Immunofluorescence staining showed immune complex deposits in GBM, mesangial cells, and TBM.  DOI: 10.52547/ijkd.7550.
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  • 文章类型: Case Reports
    Pierson综合征和X连锁Alport综合征分别由LAMB2和COL4A5的致病变异引起,都会影响肾脏和眼睛的基底膜。这项研究描述了具有纯合LAMB2致病性变异体的个体的眼部特征,并比较了Pierson综合征与Alport综合征中报告的异常。
    一名28岁男子10年前出现肾衰竭,随后进行了房间隔缺损修复,根据他可能诊断为局灶性和节段性肾小球硬化(FSGS),他被怀疑患有遗传性肾病,他年轻的时候在演讲中,还有他的心脏异常.然后,他接受了整个外显子组测序和正式的眼科检查。
    发现患者具有纯合的可能致病错义变体(p。(Arg1719Cys))在LAMB2中与Pierson综合征的诊断相符。他的视力正常,正常视神经球和角膜大小,和正常的晶状体外观直接检查。经过进一步测试,他的角膜显示中央变薄。角膜内皮多态性也增加,减少的中央凹反射,和钝化的中央凹弯曲,与X连锁Alport综合征的特征相似。
    我们的患者患有Pierson综合征或FSGS5型,有或没有眼部异常,\"与他的\"温和\"LAMB2错觉变体一致。Pierson综合征和X连锁Alport综合征的眼部特征相似,表明LAMB2和COL4A5的突变对基底膜和眼部损伤的发病机理具有相似的作用。
    Pierson syndrome and X-linked Alport syndrome result from pathogenic variants in LAMB2 and COL4A5, respectively, and both affect basement membranes in the kidney and the eye. This study describes the ocular features in an individual with a homozygous LAMB2 pathogenic variant and compares the reported abnormalities in Pierson syndrome with those in Alport syndrome.
    A 28-year-old man who developed kidney failure 10 years previously and subsequently had an atrial septal defect repair was suspected of having genetic kidney disease on the basis of his likely diagnosis of Focal and Segmental Glomerulosclerosis (FSGS), his young age at presentation, and his cardiac anomaly. He then underwent Whole Exome Sequencing and a formal ophthalmological examination.
    The patient was found to have a homozygous Likely Pathogenic missense variant (p.(Arg1719Cys)) in LAMB2 consistent with the diagnosis of Pierson syndrome. He had normal visual acuity, normal optic globe and cornea size, and normal lens appearance on direct examination. Upon further testing, his cornea demonstrated central thinning. There was also increased corneal endothelial pleomorphism, a reduced foveal reflex, and a blunted foveal curvature, similar to the features seen in X-linked Alport syndrome.
    Our patient had a later onset form of Pierson syndrome or \"FSGS type 5, with or without ocular abnormalities,\" consistent with his \"milder\" LAMB2 missense variant. The resemblance of the ocular features in Pierson syndrome and X-linked Alport syndrome suggests that mutations in LAMB2 and COL4A5 have similar effects on basement membranes and the pathogenesis of ocular damage.
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  • 文章类型: Case Reports
    抗肾小球基底膜(GBM)抗体肾炎通过免疫球蛋白G(IgG)对GBM进行线性免疫荧光染色来定义,通常与GBM破裂有关,纤维蛋白样坏死,和新月形成。临床上,肾功能迅速恶化的患者,常伴有血尿。典型的肾脏病理表现包括坏死性和新月体肾小球肾炎。相比之下,血栓性微血管病(TMA)的特征是微血管血栓形成,这也可能导致急性肾损伤。血栓性微血管病与一些系统性疾病相关,具有微血管病性溶血性贫血的特征性临床特征。血小板消耗,多器官衰竭.很少报道与TMA相关的抗GBM肾炎。我们描述了一种不寻常的非典型抗GBM疾病,没有新月形成或坏死,但具有与内皮细胞损伤和肾小球受限TMA一致的光学显微镜和超微结构特征。
    Anti-glomerular basement membrane (GBM) antibody nephritis is defined by linear immunofluorescence staining of GBM by immunoglobulin G (IgG), typically associated with GBM rupture, fibrinoid necrosis, and crescent formation. Clinically, the patients present with rapidly worsening renal function, often with hematuria. Typical renal pathologic findings include necrotizing and crescentic glomerulonephritis. In contrast, thrombotic microangiopathy (TMA) is characterized by microvascular thrombosis, which can also lead to acute kidney injury. Thrombotic microangiopathy is associated with some systemic diseases and has characteristic clinical features of microangiopathic hemolytic anemia, platelet consumption, and multiple organ failure. Anti-GBM nephritis associated with TMA has rarely been reported. We describe an unusual case of atypical anti-GBM disease without crescent formation or necrosis but with light microscopic and ultrastructural features consistent with endothelial cell injury and glomerular-limited TMA.
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  • 文章类型: Case Reports
    上皮基底膜角膜营养不良是一种罕见的实体,以角膜上皮与基底膜附着障碍继发的复发性角膜糜烂为特征。迄今为止,主要是眼科方面的病例已经报道,很少强调这个病变的病理学。在这里,我们旨在描述显微镜并讨论病例的临床和治疗方面。
    Epithelial basement membrane corneal dystrophy is a rare entity, characterized by recurrent corneal erosions secondary to a disorder in the attachment of the corneal epithelium to the basement membrane. To date, mainly the ophthalmological aspect of cases has been reported, with little emphasis on the pathology of this lesion. Here we aim to describe the microscopy and discuss the clinical and therapeutic aspects of a case.
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  • 文章类型: Case Reports
    化生性乳腺癌(MBC)是一组异质的浸润性乳腺癌(IBC),其特征在于肿瘤上皮向鳞状细胞和/或间充质出现元件分化。本研究描述了一名42岁女性的病例,该女性接受了乳房切除术和前哨淋巴结活检,其左乳房有两个肿瘤。切除的肿瘤之一被诊断为具有神经内分泌(NE)分化的MBC,另一个被诊断为无特殊类型的IBC。MBC肿瘤包含由基底层组成的基质,其病灶区域为粘液样基质和鳞状分化。据我们所知,本研究是首次报道MBC产生突出的基底层。患者存活时间超过10年,没有复发,并已口服和注射抗癌药物治疗。
    Metaplastic breast carcinoma (MBC) is a heterogeneous group of invasive breast carcinomas (IBCs) characterized by the differentiation of the neoplastic epithelium toward squamous cells and/or mesenchymal-appearing elements. The present study describes the case of a 42-year-old woman who underwent a mastectomy and sentinel lymph node biopsy for two tumors in their left breast. One of the resected tumors was diagnosed as MBC with neuroendocrine (NE) differentiation and the other was diagnosed as IBC of no special type. The MBC tumor contained a matrix composed of basal lamina with a focal area of myxoid matrix and squamoid differentiation. To the best of our knowledge, the present study is the first report of MBC producing prominent basal lamina. The patient has remained alive and well for >10 years without recurrence, and has been treated with oral and injected anticancer drugs.
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