畸形性骨炎研究进展

畸形性骨炎是局限性骨重建异常的疾病,其病因尚未完全阐明,认为主要是病毒感染和遗传因素。易感基因定位于染色体１８ｑ２１－２２,其确切发病机理还不清楚,可能由于其中突变或受损后增加破骨细胞和其前体对麻疹病毒或亚粘液病毒等的易感性而致病。治疗药物有降钙素和二膦酸盐,近年更多采用新一代二膦酸盐制剂能显著缓解症状,控制病情发展,且副作用较少。     

畸形性骨炎研究进展

畸形性骨炎是局限性骨重建异常的疾病 ,其病因尚未完全阐明 ,认为主要是病毒感染和遗传因素。易感基因定位于染色体 1 8q2 1 2 2 ,其确切发病机理还不清楚 ,可能由于基因突变或受损后增加破骨细胞和其前体对麻疹病毒或亚粘液病毒等的易感性而致病。治疗药物有降钙素和二膦酸盐 ,近年更多采用新一代二膦酸盐制剂能显著缓解症状 ,控制病情发展 ,且副作用较少。     

畸形性骨炎的临床及影像学表现

目的 分析畸形性骨炎的临床及影像学表现.方法 回顾性分析8例畸形性骨炎的临床及影像学表现.结果 8例中6例为多骨病变,2例为单骨病变.受累骨X线平片均表现外形增大、增粗,骨小梁增粗,夹杂片状低密度区,均无骨膜反应和软组织肿块.CT扫描显示骨外形改变,骨小梁增粗,骨小梁间为正常脂肪密度.MRI检查显示骨外形变化,粗大骨小梁,骨髓腔内为正常脂肪信号.合并骨折时可出现相应表现.4例进行病理学检查,只有1例提示为畸形性骨炎.结论 畸形性骨炎有典型影像学表现,是诊断依据之一.熟悉畸形性骨炎的影像学表现可以减少误诊.     

颌骨畸形性骨炎1例报告

畸形性骨炎多发于下肢骨及颅骨,颌骨少见。2001年4月15日,我们收治1例下颌骨畸形性骨炎患者。现报告如下。患者女,26岁。1年前发现右下颌肿胀,抗生素治疗无效,X线摄片拟诊为“右下颌囊肿”,因怀孕未继续治疗,分娩5个月后来我院就诊。口腔颌面部检查:右下颌角膨隆,可扪及2.5cm×3.5cm肿物,质硬、无压痛,牙齿无松动。1年前X线片呈现典型的囊肿表现:右下颌体后部8765区及下颌角囊状透光阴影,约4.7cm×6.1cm,边界清晰,为线样骨质硬化环包绕,相应部位下颌骨明显膨隆,骨皮质形成菲薄的骨壳。8765牙根吸收,8受压移位。1a后X线片示:下颌膨隆略减轻…     

畸形性骨炎的诊断和治疗

本文介绍畸形性骨炎的基本病变,总结了9例患者EHDP和CT治疗的剂量、效果和副作用。     

一个家族中遗传性畸形性骨炎七例

畸形性骨炎亦称畸形性骨营养不良即Ｐａｇｅｔ骨病，是一种原因尚不明的慢性进行性、局限性骨病，我们收集一个家族７例发病，现将研究结果报道如下。一、发病情况：同一家族３代人中共７人发病，男３例，女４例，年龄为１４～６８岁。Ⅰ１为祖代，Ⅱ１为父代，Ⅲ２至Ⅲ６为子代，子代中有１男４女得病，如图示为三代人１０名成员中７人得病，病程（１１．５±８．５）年。三代中均无近亲结婚。图１　遗传性畸形性骨炎家系二、症状、体征：起病隐匿，有乏力、失眠、头晕、头痛、视力减退、骨痛，１例有失明、多饮，６例有皮肤灼热感。７例颅…     

Paget'z骨病(畸形性骨炎)七例临床分析

对本院在1991至2007年间收治的7例畸形性骨炎患者的临床表现、影像学检查以及治疗进行分析:(1)6例表现为全身不同部位的骨痛、骨畸形,以长骨为著;(2)血碱性磷酸酶水平明显增高;(3)影像学检查可见骨破坏和骨硬化并存;(4)患者均应用二膦酸盐治疗;(5)2例骨畸形严重者行病变骨清除术和矫形术.畸形性骨炎是一种骨破坏和骨增生并存的代谢性骨病,主要表现为受累骨疼痛和畸形等,二膦酸盐是首选的治疗药物,病变严重时需行手术治疗.     

畸形性骨炎1例报道

目的分析1例Paget骨病(Paget's disease of bone,PDB)患者诊治经过,以期提高临床医生对该病的认识,减少误诊及提高及时治疗率,减少其致残率。方法整理1例PDB患者的临床资料、实验室检查、X线片特征及病理特征,给予单次静脉注射唑来膦酸盐5 mg,3、6、9个月后观察相关指标变化,评价治疗效果。结果 PDB患者经唑来膦酸盐治疗后,临床症状缓解,血清碱性磷酸酶、总Ⅰ型前胶原氨基端延长肽、β胶原特殊序列显著持续下降。结论单次静脉给予唑来膦酸盐是治疗PDB的良好选择。提高医生对PDB的认识是避免误诊的最佳手段。加强长期随访是治疗的重要一部分。     

胃癌骨转移误诊为强直性脊柱炎一例

患者 ,女性 ,3 2岁。因腰骶部疼痛进行性加重 2个月就诊。入院前 2个月无明显诱因出现持续性下腰部疼痛 ,活动翻身时加重 ,有晨僵 ,休息时无明显缓解 ,余关节无红肿 ,无发热 ,精神食欲差。曾在当地多家医院就诊 ,诊断不清 ,症状逐渐加重。体格检查 :生命体征正常 ,颈部未见异常 ,腹软 ,无包块 ,腰部前屈、侧弯、后伸活动均受限 ,骶髂关节处和耻骨联合处压痛明显 ,双下肢关节无红肿 ,直腿抬高试验 (+ ) ,双 4字试验(+ )。血沉 40ｍｍ /ｈ ,ＨＬＡ Ｂ 2 7(+ ) ,血Ｈｂ 9.7× 10 9/Ｌ ,补体Ｃ3 、Ｃ4正常。蛋白电泳正常 ,骶髂关节Ｘ线片及ＣＴ…     

Paget's disease of bone

Paget's disease of bone is characterized by an anarchic bone remodelling, associated with morphological and functional abnormalities of osteoclasts. Its prevalence and incidence rates decreased gradually over the past two decades; the reason for this remains unclear. The aetiology of the disease is still obscure, the paramyxoviral theory being very controversial. Recent advances in understanding of the disease come from genetic studies, with the identification of specific mutations in the p62-sequestosome gene, which could be involved in pathogenetic mechanisms leading to increased osteoclast activity. The disease affects one or several bone pieces, leading to bone pain, deformities, characteristic imaging features, and increased markers of bone remodelling. The long-lasting disease activity leads to complications, including arthropathies, neurological compressions, fissures or fractures and, rarely, osteosarcomatous transformation of a pagetic lesion. Potent bisphosphonates have proven their efficacy in reducing symptoms and disease activity. They are currently used as the first-line treatment with the goal of normalizing bone remodelling and, hopefully, preventing late complications.     

Sarcomatous degeneration in Paget's bone disease

Summary The authors report 12 cases (8 men and 4 women) of sarcomatous degeneration in Paget's bone disease, with an average age of 72.3 years. Sarcomatous degeneration occurred often in polyostotic Paget's disease, and osteitis deformans was seen in 4 cases. Femur and pelvis were the most affected bones. Pain was a constant feature, whereas tumefaction and fracture were less common. Osteolytic lesions were more frequent than condensed or mixed lesions and radiological signs of malignancy were usually found. Seven cases were histologically clasiified as osteogenic sarcoma and 3 cases as fibrosarcoma. Electron microscopy was performed on 2 osteogenic sarcomas and in 1 case revealed microcylindrical inclusion in Pagetic osteoclasts and in multinucleated giant tumor cells, but none in mononucleated tumor cells. The average survival time for the patients in this study was only 4.5 months.     

Paget骨病的研究进展

Paget骨病是一种病因不明的局限性骨代谢紊乱,特点是过度骨吸收,继之形成富含血管和结缔组织的异常骨质.较多患者存在SQSTMl基因突变,在无SQSTMl基因突变的患者中也陆续发现了4个新的相关基因:CSF1、OPTN、TNFRSF11A和TM7SF4.分子生物学方面的研究发现,患者血清白细胞介素-6、巨噬细胞-集落刺...     

Clinicopathologic features of single bone metastasis in breast cancer

The most common site for metastasis in patients with breast cancer is the bone. In this case series, we investigated patients whose surgical and medical treatment for primary breast cancer was conducted at our center and first disease recurrence was limited to only 1 bone.We analyzed 910 breast cancer patients, 863 had no metastasis and 47 cases had a single bone metastasis ≥ 6 months after their first diagnosis. Demographic, epidemiological, histopathological and intrinsic tumor subtype differences between the non-metastatic group and the group with solitary bone metastases and their statistical significance were examined. Among established breast cancer risk factors, we studied twenty-nine variables.Three variables (Type of tumor surgery, TNM Stage III tumors and mixed type (invasive ductalcarsinoma + invasive lobular carcinoma) histology) were significant in multivariate logistic regression analysis. Accordingly, the risk of developing single bone metastasis was approximately 15 times higher in patients who underwent mastectomy and 4.8 and 2.8 times higher in those with TNM Stage III tumors and with mixed type (invasive ductal carcinoma + invasive lobular carcinoma) histology, respectively.In conclusion, the risk of developing single bone metastasis is likely in non-metastatic patients with Stage III tumors and possibly in mixed type tumors. Knowing this risk, especially in patients with mixed type tumors, may be instrumental in taking measures with different adjuvant therapies in future studies. Among these, treatment modalities such as prolonged hormone therapy and addition of bisphosphonates to the adjuvant treatments of stage III and mixed breast cancer patients may be considered.     

空肠克罗恩病急性穿孔1例报告

病例 罗某,男,26岁,因突发腹部疼痛1天入院。患者1天前无明显诱因突感剑突下阵发性绞痛,随后变为满腹持续性疼痛,阵发性加重,伴恶心、呕吐,呕吐为胃内容物,非喷射性。患者既往反复腹痛,未行胃镜检查,在当地医院诊断为胃病,予以雷尼替丁等对症治疗,效果欠佳,平日时有便秘,大便干结,或有时解稀便。     

Paget's骨病伴皮肤蕈样霉菌病一例报告

Paget's骨病(Paget's disease of bone,PDB),又称畸形性骨炎,系原因不明骨吸收增加的缓慢、局限性骨骼病变.可致骨再建异常,新形成不正常骨质增加,局部骨骼膨大、疏松、血管增多,易畸形和骨折.     

成人Still病误诊为肝脓肿1例报告并文献复习

成人Still病是一种以发热、畏寒、皮疹、关节肿痛、外周血白细胞增多、脾肿大等为主要临床表现的全身性疾病,目前其发病机制不详[1]。由于成人Still病缺乏早期特异性症状、体征,非专科医师对该病的认识有限,临床易出现误诊、误治,导致延误病情。笔者近期收治1例成人Still病误诊为肝脓肿的患者,报道如下。     

Positive octreotide scintigraphy and determination of lanreotide activity in Paget's disease of bone associated with phosphate diabetes: a case report

A patient with Paget's disease developed phosphate diabetes (phosphate: 1.6 mg/dl (2.5-4.4 mg/dl), with 29 ml/min phosphate clearance (Nl<15ml/min) and a 65% phosphate reabsorption rate (Nl>85%). As previously demonstrated in tumor-induced osteomalacia, we hypothesized that osteoblasts might manifest somatostatin receptor activity. The patient underwent an octreotide scan which demonstrated increased uptake localized in affected bone. Under lanreotide treatment (40 mg i.m.), the patient's bone pain improved with a concomitant decrease in phosphate alkaline level. Phosphate clearance and tubular readsorption rate of phosphate did not change significantly. We reviewed previously reported cases of associated Paget's bone disease and phosphate diabetes.