A fatal case of seronegative,late-onset systemic lupus erythematosus presenting with motor sensory axonal polyneuropathy

Abstract

Systemic lupus erythematosus is a multisystemic, autoimmune, inflammatory disorder predominantly affecting young females. Its onset may be abrupt or insidious, presenting with a broad range of clinical and immunological features. We report an unusual case of elderly-onset systemic lupus erythematosus in a woman initially diagnosed with discoid lupus, and subsequently admitted to hospital due to a progressive psycho-motor deficit. Electrophysiological measurements suggested a diagnosis of acute motor sensory axonal neuropathy. Unusual clinical features and negative serology led to diagnostic uncertainty. This case report offers information on the course of the disease through the entire chain of the health care delivery (from primary to tertiary). Despite the efforts of the hospital staff, it was not possible to save the life of the woman.     

Extraskeletal osteosarcoma of penis: A case report

Extraskeletal osteosarcoma (EOS) is rare and commonly arises in the retroperitoneum, limbs, head and neck. There is no significant difference between EOS and other malignant tumors in soft tissue. Localized pain and swelling are the common presenting symptoms. Clinical diagnosis of EOS is difficult, imaging techniques may be helpful and careful, and the histopathological analysis is necessary. The common histological variants of EOS include: osteoblastoma, chondroblastoma, and fibroblastoma, and other unusual subtypes were reported occasionally. It should be distinguished with myositis ossificans, malignant mesenchymoma, giant cell tumor and parosteal osteosarcoma. We present an EOS arising in the penis. The primary site and histological category of the tumor were extremely rare. We hope the case will be helpful to the recognition of clinical signs, iconography and histopathology of EOS.     

手部恶性腱鞘巨细胞瘤七例报告

目的　探讨手部恶性腱鞘巨细胞瘤的诊断和治疗。方法　分析 7例恶性腱鞘巨细胞瘤的发病过程及治疗结果。其中 3例曾作广泛切除术 3次 ,每次术后均复发。 1例多次复发者作全手切除 ,4例作肿瘤切除及局部组织广泛切除。结果　 7例术后获得随访 4～ 6年 ,均未见复发及转移。结论　对有明显复发倾向的恶性腱鞘巨细胞瘤应考虑作截肢手术     

骨巨细胞瘤GCF－5抗原的cDNA克隆化及其在大肠杆菌中的表达

目的 ＧＣＦ－５是骨巨细胞瘤（ＧＣＴ）特异性单抗,其抗原是了解ＧＣＴ特性的途径之一。为了利用这一途径,对ＧＣＦ－５抗原的ｃＤＮＡ进行了克隆及表达。方法 盐酸胍和有机溶剂法提取总ＲＮＡ,Ｏｌｉｇｏ（ｄＴ）－Ｃｅｌｌｕｌｏｓｅ亲和层析法分离ｍＲＮＡ,反转录合成ｃＤＮＡ,用λｇｔ１１Ｓｆｉ－Ｎｏｔ表达载体构建ｃＤＮＡ文库,免疫学筛选并克隆ＧＣＦ－５抗原的ｃＤＮＡ,大肠杆菌Ｙ１０８９表达含ＧＣＦ－５抗原的     

CT angiographic imaging characteristics of thoracic idiopathic aortitis

BackgroundIdiopathic aortitis (IA) is characterized by giant cell or lymphoplasmacytic inflammation of aorta without a secondary cause.ObjectiveWe undertook a retrospective case–control study to identify characteristic CT angiographic findings in these patients and to correlate them with known atherosclerotic risk factors.MethodsIA cases and controls with noninflammatory aneurysm (control group I) and patients with secondary aortitis (control group II) were identified with a pathology database. Preoperative CT angiographic images of thoracic aorta were reviewed. Diameter of thoracic aorta, wall thickness, and calcification were measured at various sites. Traditional atherosclerotic risk factors were identified from case records and included hypertension, hyperlipidemia, diabetes mellitus, and smoking.ResultsTwenty-two idiopathic aortitis cases were compared with 18 patients in control group I and 16 patients in control group II. No differences were found in prevalence of hypertension and diabetes, but hyperlipidemia was more prevalent in the control group I than in cases (72% vs 36%; P = .03). Current smoking was more prevalent in cases (24%) than for patients in control group I (6%) and group II (19%) but not statistically significant (P = .18 and .69, respectively). Thoracic aortic diameters at various points were significantly larger in cases than for patients in control group I. Calcification was more frequent in cases than for patients in control group II. No differences in wall thickness were found. No meaningful correlation was observed between atherosclerotic risk factors and aortic diameter and calcification scores.ConclusionsPatients with IA have significantly larger and more diffuse dilatation of the thoracic aorta than patients with noninflammatory aneurysms.     

脑弥漫性轴索损伤的CT诊断（附40例分析）

在急性脑外伤患者的ＣＴ片研究弥漫性轴索损伤的ＣＴ征象，目的是为ＤＡＩ的诊断提供影像学依据。回顾性分析经临床确诊的４０例ＤＡＩ患者的早期ＣＴ表现，结合文献提出ＤＡＩ的ＣＴ诊断标准：脑白质内单发或多发无占位效应的小出血灶，中线结构无移位；蛛网膜下腔出血或脑池内出血；脑室内出血；弥漫性脑肿胀。     

Axonal Sprouting Following Incomplete Spinal Cord Injury: An Experimental Model

Abstract

Recovery of function following incomplete spinal cord injury may in part result from growth of new connections by spared descending pathways. It has been difficult to demonstrate such anatomical reorganization with traditional anatomic techniques. This study utilizes an immunocytochemical method to demonstrate axonal growth cones within the lumbar spinal cord in rats recovering from an incomplete midthoracic spinal cord injury. Adult rats underwent subtotal section of the midthoracic cord sparing the left lateral funiculus and a portion of the left ventral funiculus. Light microscope immunocytochemistry was performed on sections of lumbar spinal cord with antibodies to identify sprouting axons. These antibodies were used to determine the distribution of growth cones on both sides of the lumbar spinal cord in experimental and control animals. Growth cones were first observed three days after the spinal cord lesion. Specific labeling, similar in appearance to previous reports of growth cone identification, was apparent within the intermediate gray and ventral horns on both sides of the cord. These data support the hypothesis of collateral sprouting distal to the lesion site following incomplete spinal cord injury. It further supports the idea that recovery of function following incomplete spinal cord injury is, in part, mediated by spared descending pathways. (J Spinal Cord Med 1997; 20:200-206)     

胸腰椎骨巨细胞瘤手术治疗后复发的原因分析

目的:探讨胸腰椎骨巨细胞瘤(giant cell tumor,GCT)手术治疗后复发的原因.方法:2005年1月～2010年9月我院手术治疗胸腰椎GCT共20例,男10例,女10例;年龄11～49岁,平均34.0岁,＜30岁者7例,30～60岁者13例.病变位于胸椎13例,腰椎7例;病灶仅累及单节段脊椎15例,双节段1例,3个节段4例;均为Enneking S3期.15例为首次手术治疗,5例因复发而再次手术.行刮除术9例,经瘤包膜外彻底切除术7例,全脊椎整块切除术(TES)4例.手术时间168～690min,平均440.5min;术中出血量为1050～8500ml,平均3286ml.术后放疗7例.采用卡方Fisher精确检验,分析术后GCT复发率与患者性别、年龄、病变节段、首次手术与否、手术方式、手术时间、术中出血量、术后放疗与否的相关性.结果:3例失访,17例随访18～86个月,平均48.0个月.11例患者未见复发,6例患者局部复发.病灶累及胸椎者的术后复发率为3/11,腰椎为3/6;男性患者术后复发率为2/9,女性为4/8;年龄＜30岁者术后复发率为1/6,30～60岁者为5/11;首次手术治疗的术后复发率为5/13,因复发再次手术的复发率为1/4;手术时间＜7h者复发率为4/6,≥7h者为2/11;术中出血量＜3000ml者术后复发率为2/7,≥3000ml者为4/10;采用刮除术者术后复发率为6/7,采用经瘤包膜外彻底切除术及整块切除术者无复发,采用刮除术的复发率明显高于另外两组;术后放疗者复发率为5/7,未行放疗者为1/10.局部复发组患者的性别、年龄、病变受累节段、手术次数、手术时间及术中出血量与未复发组比较无统计学差异(P＞0.05),手术方式及术后放疗与否复发组与未复发组比较有统计学差异(P＜0.05).结论:胸腰椎GCT手术治疗后的复发与手术方式直接相关,整块切除或经瘤的包膜外彻底切除可明显降低复发率.     

A novel technique using hydrophilic polymers to promote axonal fusion

The management of traumatic peripheral nerve injury remains a considerable concern for clinicians. With minimal innovations in surgical technique and a limited number of specialists trained to treat peripheral nerve injury, outcomes of surgical intervention have been unpredictable. The inability to manipulate the pathophysiology of nerve injury (i.e., Wallerian degeneration) has left scientists and clinicians depending on the slow and lengthy process of axonal regeneration (~1 mm/day). When axons are severed, the endings undergo calcium-mediated plasmalemmal sealing, which limits the ability of the axon to be primarily re-paired. Polythethylene glycol (PEG) in combination with a bioengineered process overcomes the inability to fuse axons. The mechanism for PEG axonal fusion is not clearly understood, but multiple studies have shown that a providing a calcium-free environment is essential to the process known as PEG fusion. The proposed mechanism is PEG-induced lipid bilayer fusion by removing the hydration barrier surrounding the axolemma and reducing the activation energy required for membrane fusion to occur. This review highlights PEG fusion, its past and current studies, and future directions in PEG fusion.     

Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature

Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.