Dysplasia epiphysealis hemimelica of the scaphoid bone

We report a rare case of dysplasia epiphysealis hemimelica (DEH) in the wrist of a 7-year-old boy. Clinical, radiological and histopathological manifestations are discussed. The correct diagnosis of DEH, however, was made by the confrontation of the radiological and pathological data. The radiologist should inform the pathologist correctly about the imaging findings in order to avoid misdiagnosis of the lesion as osteochondroma. Received: 17 March 1998; Revision received: 30 June 1998; Accepted: 20 August 1998     

Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation.     

Trevor's disease and whole-body MRI

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare disease characterized by osteocartilaginous overgrowth involving single or multiple epiphyses on the medial or the lateral side of an affected limb. DEH usually becomes clinically evident in childhood.Imaging has a major role in the diagnosis of DEH. Typical location and radiographical features, together with a distinct distribution usually permit diagnosis. Magnetic resonance imaging (MRI) is often used as an additional imaging modality to evaluate the lesion.Whole-body MR imaging (WBMRI) currently has become a relatively fast imaging method having good sensitivity to detect lesions in the larger bones of the skeleton. In Trevor's disease, WBMRI can demonstrate (clinically and radiographically unsuspected) additional lesions throughout the affected limb without use of ionizing radiation, revealing the typical distribution pattern of DEH.We propose to add WBMRI to the routine MRI examination performed to evaluate the lesion itself. WBMRI may have a clear therapeutic advantage: if a distribution pattern typical of DEH is found, it constitutes a strong argument in favor of Trevor's disease which may avoid the need to perform biopsy.     

Trevor's disease (dysplasia epiphysealis hemimelica) located at the hand: case report and review of the literature

Trevor's disease, also known as dysplasia epiphysealis hemimelica (DEH), is a rare developmental bone dysplasia, characterized by benign osteocartilaginous overgrowth. The lesion arises from an epiphysis. Its localization may be different, and it mostly occurs unilateral. In this report, we present a 40 years old woman suffering from Trevor's disease with unusual localization at the hand. Because of significant symptoms surgical excision was chosen.     

Dedifferentiated chondrosarcoma in patients with multiple osteochondromatosis: report of a case and review of the literature

 Multiple osteochondromatosis (MOS) is a familial disorder of autosomal dominant transmission characterized by the development of multiple exostoses and often derangements of epiphyseal cartilage, sometimes resulting in long bone growth retardation. Patients with the disorder appear to be at increased risk for developing secondary chondrosarcomas. Rarely, dedifferentiated chondrosarcomas may also occur. We report a single case of a 27-year-old man with multiple osteochondromatosis who developed a fatal dedifferentiated chondrosarcoma. Radiographically, the neoplasm arose from the pelvis completely destroying the left pubic ramus. Subsequently, the patient underwent preoperative chemotherapy followed by a left external hemipelvectomy. On pathologic examination, the tumor was characterized by high-grade pleomorphic sarcoma sharply juxtaposed to a low-grade chondrosarcoma. The patient ultimately died of widespread metastatic sarcoma.     

伴皮质下梗死和白质脑病常染色体显性遗传性脑动脉病CT平扫特点

目的：探讨伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）CT平扫特点。方法：对8例经临床、MRI、病理学及基因检查确诊为CADASIL患者的CT平扫资料进行回顾性分析。结果：CADASIL患者脑CT平扫特点主要表现为颞极、额叶前部白质疏松,可伴有腔隙性梗死灶,随年龄增长上述病灶逐渐加重。结论：CADASIL病例CT平扫存在特征性的脑白质病变,CT对该病的筛选有重要作用。     

Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda

 We describe twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia (SED) tarda. The proband presented at 17 years with nystagmus and esotropia due to a severe Chiari malformation. A milder, asymptomatic Chiari I malformation was seen in his brother and tonsillar ectopia in his father. Although these malformations have not been described in patients with SED, they are relatively common in other bony abnormalities, particularly those involving the cranio-cervical junction. The concordance of the Chiari malformations or tonsillar ectopia in all three family members with SED suggests that this association is not coincidental. It seems possible that the downward displacement of the cerebellum occurs secondary to primary osseous abnormality, rather than due to a primary disturbance of embryological development. The lack of additional brain malformations in our patients is consistent with this theory.     

SPARC在常染色体显性多囊肾病患者体液中的表达及其分泌研究

目的研究富含半胱氨酸的酸性分泌糖蛋白(SPARC)在常染色体显性多囊肾病(ADPKD)患者体液中的浓度及其分泌来源。方法采用ELISA法测定ADPKD患者血浆、尿液、囊肿液以及正常人血浆、尿液中的SPARC浓度;采用Westernblot方法比较检测人肾小管上皮细胞(HKC)和囊肿衬里上皮细胞培养液中的SPARC蛋白水平。结果ADPKD患者囊肿液中SPARC浓度为3628.75±1445.90ng/ml,显著高于血浆和尿液中的SPARC浓度(P<0.01);ADPKD组尿液中的SPARC含量比对照组明显升高(1253.16±544.81ng/mlvs123.91±28.37ng/ml,P<0.01),而两组血浆中SPARC浓度无明显差别。HKC和囊肿衬里上皮细胞培养液中均检测到SPARC蛋白表达,光密度检测两种细胞所分泌的SPARC蛋白与相应的GAPDH条带光密度比值分别为35.56%和71.15%。结论ADPKD患者囊液和尿液中增多的SPARC可能来自囊肿衬里上皮细胞及扩张的小管和集合系统。     

常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病的颅脑MRI表现

目的 提高对常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)的颅脑MRI表现的认识.方法 对一家系2代5例患者进行头颅常规MR和MR血管成像(MRA)检查.对经Notch3基因检查或皮肤组织活检超微病理检查确诊的3例和经MRI与临床诊断的1例CADASIL的MRI资料进行分析.结果 MR检查的5例中4例CADASIL均获得明确诊断,1例排除诊断.4例CADASIL均见两侧颞叶、额叶和顶叶大致对称性皮层下与侧脑室旁白质病灶,呈长T1、长T2信号,但枕叶累及甚少且皮层不受累;O'Sullivan征阳性4例,皮层下腔隙性损害(SLLs)征阳性2例;3例半卵圆中心可见多发圆形或卵圆形囊性梗死即"黑洞",4例均见多发圆点状血管周间隙即"胡椒罐盖"样征象;4例全部显示胼胝体单发或多发斑片状显著长T1、长T2信号,其中2例伴萎缩;内囊前肢与外囊均受累,呈"人"字征;基底节和脑干可见单发或多发陈旧性腔隙性梗死灶;1例伴右侧小脑小片状梗死灶;4例全部有轻度至中度的脑干、小脑和大脑萎缩;MRA颅内Ⅰ-Ⅲ级较大动脉均未见明显异常.结论 CADASIL的颅脑MRI表现具有一定的特征性,可为CADASIL的初诊和筛选提供重要依据.     

常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病患者的MR定量指标及其与临床的关系

目的 对常染色体显性遗传性脑动脉病伴皮层下梗死和白质脑病(CADASIL)患者的白质高信号和脑体积进行定量分析,并探讨其与临床的关系.方法 15例通过病理检查确诊为CADASIL的患者进行常规MR扫描,统计脑半卵圆中心、内囊后肢、外囊、胼胝体和颞极白质受病变累及情况.利用计算机后处理软件计算标准化颅脑体积和白质高信号占颅脑体积的百分比,并与年龄、美国国立卫生研究院卒中量表(NIHSS)和简易精神状态检查(MMSE)量表评分进行Spearman相关性分析.结果 CADASIL患者的白质病变累及部位依次为:半卵圆中心(13/15)、颞极白质(10/15)、外囊(8/15)、内囊后肢(5/15)、胼胝体(4/15).白质高信号占颅脑体积的百分比为(5.7±1.4)%,标准化颅脑体积为(1602±58)×103mm3.年龄与标准化颅脑体积呈负相关(r=-0.555,P＜0.05);白质高信号百分比与NIHSS、MMSE量表评分分别呈正、负相关(r=0.522,P＜0.05;r=-0.679,P＜0.01);标准化颅脑体积与NIHSS评分呈负相关(r=-0.624,P＜0.05).结论 CADASIL患者的白质高信号和脑体积可以定量测量,这两种影像学指标可以在一定程度上反映患者的病情.白质高信号的发展可能预示患者认知功能的下降.     

89SrCl联合依班膦酸钠治疗多发性骨转移癌疼痛

目的 观察89SrCl2联合依班膦酸钠治疗多发性骨转移癌疼痛与单独应用依班膦酸钠或89SrCl2治疗的临床疗效。方法84例骨转移癌疼痛患者,分为3个治疗组,其中30例采用89SrCl,联合依班膦酸钠方法,26例采用单纯89SrCl2治疗,28例采用依班膦酸钠治疗。用SPSS13．0统计软件,疗效比较采用行×列表资料的r检验。结果联合治疗组骨痛缓解总有效率为96．6％（29／30）,依班膦酸钠组及89SrCl2治疗组总有效率分别为71．4％（20／28）和73．1％（19／26）。联合用药组与单独用药组治疗后骨痛缓解有效率（X2=7．497）,全身状况Kamofsky评分提高率[80．0％（24／30）与50．0％（14／28）,53．8％（14／26）,X2=35．476]和病灶治疗有效率[47．6％（50／105）与11．2％（11／98）,22．2％（20／90）,X2=6．564]间比较差异有统计学意义（P均〈0．05）。结论89SrCl2联合依班膦酸钠是治疗骨转移性癌疼痛较为有效和可行的方法。联合用药临床疗效优于单独用药。     

多发伤并长骨损伤的固定方式与处理时机

目的 分析严重多发伤与长骨损伤的救治关系,探讨骨折固定方式与处理时机.方法 对随机采集的357例多发伤并长骨损伤患者按其长骨损伤特征、固定方式以及处理时间分组进行回顾性分析,采用ALS、ISS和TRISSRTS法对创伤的严重程度进行3个层次衡量评定,以控制组内和组间的可比性与统计学分析.结果 全组长骨损伤AIS最大值(MAIS)=3.28 ±1.15,并发其他部位伤MAIS=4.45 ±1.69,ISS=35.57 ±19.64,Ps=0.67±0.29.伤员生存危险与长骨损伤状况及所并发损伤的部位或器官有关,组合或混合方式固定患者并发损伤部位和长骨数多而伤情复杂,后期固定患者多存在延迟骨折固定的影响因素.结论 建立损害控制的概念,依据伤情进行分类救治有助于权衡骨折治疗利弊并做合理选择或分期实施.     

Polyostotic fibrous dysplasia (McCune-Albright) with rare multiple epiphyseal lesions in association with aneurysmal bone cyst and pathologic fracture

Fibrous dysplasia, including McCune-Albright syndrome, is a genetic, non-inheritable benign bone disorder that may involve a single or multiple bone, typically occurring in the diaphysis or the metaphysis of long bones. In very rare instances polyostotic fibrous dysplasia present involvement of the epiphysis in long bones. Aneurysmal bone cysts are benign, expansile, lytic bone lesions formed by cystic cavities containing blood, that may occur de novo or secondary to other lesions of bone, including fibrous dysplasia. We report a case of an 18-year-old female with polyostotic fibrous dysplasia (McCune-Albright syndrome) with diaphyseal and unusual multiple foci of epiphyseal involvement of long bones as well as in the patella, and a simultaneous aneurysmal bone cyst of the left femoral neck with pathologic fracture. This is the first report of a simultaneous aneurysmal bone cyst in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome) with involvement of diaphysis and epiphysis of long bones, highlighting that fibrous dysplasia should be included in the differential diagnosis of polyostotic tumors involving the diaphysis as well as the epiphysis. In patients with polyostotic fibrous dysplasia there should be an active search for lesions in the epiphysis.     

Endometrioid endometrial carcinoma of no-specific-molecular-profile with multiple bone metastases and muscle involvement: Case report and review of the literature

Bone metastasis and muscular involvement in endometrial carcinoma are rare, and information on molecular profiles of endometrial carcinoma with bone metastasis is scarce. We present a case of an 83-year old woman with a poorly differentiated endometrioid adenocarcinoma of no-specific-molecular-profile with para-aortic lymph node involvement, who underwent surgery, received adjuvant chemotherapy and vaginal brachytherapy but declined external beam radiotherapy. Fifteen months after the initial diagnosis she presented with pain in her right leg. Imaging showed an osteolytic lesion in the right femur with soft-tissue involvement. She underwent an open biopsy and protective osteosynthesis. Histologically, infiltrates of both bone and muscle were consistent with metastasis derived from endometrioid endometrial carcinoma. She received concomitant palliative chemotherapy and external beam radiotherapy to the right femur. Eleven months later, she presented with an acute hemiparesis caused by a right-sided subacute, superior frontal gyrus infarct, which also showed aggressive bone metastasis of the left sphenoid bone. She subsequently died 2 weeks later. This is a rare case of multiple bone metastases and muscle involvement in endometrial carcinoma. To our knowledge, this is the first reported such case in endometrial carcinoma showing no-specific-molecular-profile.     

尼尔雌醇照前多次给药对骨髓型急性放射病小鼠的防护作用及其机制研究

目的 了解抗放药尼尔雌醇照前不同给药方案对⁶⁰Co γ射线照射所致小鼠骨髓型急性放射病的防护效应的影响,并揭示其促造血恢复机制。方法 采用外周血象分析和存活率实验确定尼尔雌醇较优给药方案,再以骨髓造血干/祖细胞表面标志分析、多系骨髓细胞集落及骨髓HE病理切片等方法,分析尼尔雌醇照前2次间隔给药促进照后骨髓造血恢复的作用机制。结果 尼尔雌醇照前3次间隔给药与2次间隔给药均能提高9.0 Gy照射小鼠存活率至100%,明显优于1次给药(20%, χ²=21.66、21.66,P<0.05)。尼尔雌醇照前3次连续给药与2次间隔给药均能改善6.5 Gy照射小鼠外周血白细胞、中性粒细胞、血小板和红细胞的恢复(F=21.33、100.9、49.34、19.19, P<0.05),且比1次给药效果好(F=17.11、63.38、21.89、14.37, P<0.05)。尼尔雌醇2次间隔给药显著提高6.5 Gy照射后小鼠10 d骨髓造血干、祖细胞数(t=8.58、2.80, P<0.05);显著增强小鼠骨髓造血细胞集落形成能力,与1次给药相比,差异有统计学意义(t=4.29、6.34, P<0.05)。同时,2次间隔给药明显改善照射小鼠骨髓象的重建。结论 与传统的照前单次给药相比,尼尔雌醇照前多次给药可显著提升其对小鼠骨髓型急性放射病的辐射防护效果。考虑到核医学应急救援的实际情况,建议尼尔雌醇照前采用间隔1 d的给药方式,在减少尼尔雌醇给药次数情况下,以获得最佳的抗放效果。     

烟酰胺和碳合氧增敏89Sr治疗多发性骨转移癌的临床研究

目的评价烟酰胺和碳合氧（Carbogen）增敏^89Sr治疗多发性骨转移癌的作用、骨痛的缓解及毒副反应。方法97例恶性肿瘤多发性骨转移患者随机分为4组：烟酰胺＋Carbogen＋^89Sr治疗组（A组）；烟酰胺＋^89Sr治疗组（B组）；Carbogen＋^89Sr治疗组（C组）；^89Sr治疗组（D组）。^89SrCl2治疗采用1．48-2．22MBq／kg，静脉注射。注射^89Sr前1h开始给予烟酰胺，6g／d，分3次口服，连服5d。首次口服烟酰胺后开始吸入Carbogen（95％O2＋5％CO2）气体，6L／min，10min，每日1次，连续5d。结果A组治疗后骨痛的缓解及生活质量较B组、C组及D组有效率高（91．7％、77．3％、76．0％和69．2％），且A组与D组比较差异有统计学意义（P=0．048）。治疗后3个月复发性骨转移癌全身骨显像反应，各组之间差异无统计学意义。各组病人治疗后均有Ⅰ-Ⅱ度骨髓抑制，各组之间差异无统计学意义。结论烟酰胺＋Carbogen＋^89Sr治疗多发性骨转移癌，对骨痛的缓解及生活质量的改善有更好的疗效，且未增加^89Sr的治疗毒性反应。     

Comparative study of fluorodeoxyglucose positron emission tomography and magnetic resonance imaging for the detection of spinal bone marrow infiltration in untreated patients with multiple myeloma

Background: The presence and extent of osteolytic bone lesions in untreated patients with multiple myeloma are important factors in the staging of the disease, and the extent of bone lesions in multiple myeloma cases significantly influences decisions regarding therapy. Recently, fluorodeoxyglucose positron emission tomography (FDG-PET) and magnetic resonance imaging (MRI) have been used to detect bone marrow involvement in patients with multiple myeloma.

Purpose: To compare the efficacy of FDG-PET and MRI for the detection of bone marrow infiltration into the spine in untreated patients with multiple myeloma.

Material and Methods: Twenty-two patients with multiple myeloma underwent both FDG-PET and spine MRI. The examined spinal regions by MRI included 21 thoracic and lumbar spines, one lumbar spine, and 12 cervical spines. The following imaging sequences were performed: T1-weighted spin-echo MRI with and without fat suppression, and T2-weighted spin-echo MRI in the sagittal plane. In the patients with bone marrow abnormalities, an additional contrast-enhanced T1-weighted spin-echo MR image and a fat-suppressed T1-weighted spin-echo MR image were obtained. Patients were divided into three groups on the basis of the criteria defined by Durie and Salmon: stage I (n=9), stage II (n=3), and stage III (n=10). The number and location of lesions detected in both FGD-PET and MRI were recorded, and the lesions were compared using the McNemar test. Bone marrow biopsy results, the patient's clinical examinations, and other imaging findings (MRI, FDG-PET, etc.) were used as references.

Results: In stages I and II (37 lesions in 12 patients), FDG-PET and MRI detected lesions in 78% (29 of 37 lesions) and 86% (32 of 37 lesions), respectively. However, the difference between the abilities of FDG-PET and MRI to detect lesions was not statistically significant (P=0.317). In stage III (101 lesions in 10 patients), FDG-PET and MRI detected lesions in 80% (81 of 101 lesions) and 92% (93 of 101 lesions), respectively. The difference between the abilities of FDG-PET and MRI to detect lesions was statistically significant (P=0.038).

Conclusion: MRI is superior to FDG-PET in detecting bone marrow involvement in the spine of patients with advanced multiple myeloma.