提示:目前本站文摘的参考中文大部分是机器翻译结果,尚且存在不足之处。希望广大用户积极参与翻译修改。
1
参考中文标题:
特殊DXA骨密度值的深潜海洋哺乳动物讲坛:一个新的骨适应的技术洞察力,水生生物。
PMID及链接:
19198832 http://www.syyxw.com/Archive/Detail/19198832
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
2
参考中文标题:
成像胸壁感染。
PMID及链接:
19183990 http://www.syyxw.com/Archive/Detail/19183990
摘 要:
A wide variety of infections can affect the chest wall including pyogenic, tuberculous, fungal, and some other unusual infections. These potentially life-threatening disorders are frequent especially among immunocompromised patients but often misdiagnosed by physical examination and radiographs. The purpose of this article is to describe the clinical and imaging features of these different chest wall infections according to the different imaging modalities with emphasis on ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI). The outcome of chest wall infection depends on early diagnosis, severity of the immunosuppression, offending organism, and extent of infection. Because clinical findings and laboratory tests may be not contributive in immunocompromised patients, imaging plays an important role in the early detection and precise assessment of the disease. US, CT, and MRI are all useful: bone destruction is more accurately detected with CT whereas soft tissue involvement are better visualized with US and MRI. CT and US are also used to guide percutaneous biopsy and drainage procedures. MR images are helpful in pre-operative planning of extensive chest wall infections.
参考中文摘要:
各种各样的感染可能会影响胸壁包括化脓性,结核,真菌,和其他一些不寻常的感染。这些潜在威胁生命的疾病的频繁尤其是免疫功能低下患者,但往往被误诊的身体检查和X光片。本文的目的是描述的临床和影像学特征,这些不同胸壁感染根据不同的成像方式,重点放在超声(美国) ,计算机断层扫描( CT )和磁共振成像( MRI ) 。结果胸壁感染取决于早期诊断,严重的免疫抑制,得罪有机体,和程度的感染。由于临床表现和实验室检测可能不是有贡献的免疫功能低下患者,成像中起着重要作用的早期发现和准确地评估这一疾病。美国, CT和MRI检查都是有用:骨破坏更精确地检测出的CT ,而软组织更好地参与可视化与美国和MRI 。 CT和美国,也用来指导穿刺活检及排水程序。磁共振成像有助于术前规划的广泛胸壁感染。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
3
参考中文标题:
磁共振成像的出以下的骨盆肌肉骨骼恶性肿瘤半部截肢。
PMID及链接:
19697024 http://www.syyxw.com/Archive/Detail/19697024
摘 要:
OBJECTIVE: To describe our experience of the magnetic resonance imaging (MRI) appearances after hindquarter amputation, focusing on the normal pattern of time-related changes in signal intensity within the amputation flap and appearances of local disease recurrence. MATERIALS AND METHODS: This was a retrospective review of the records of patients identified on our orthopaedic oncology database who had undergone hindquarter amputation at our centre. Examinations were divided into one group consisting of 'normal' postoperative findings and another group demonstrating local recurrence. 'Normal' postoperative findings were assessed for signal intensity, morphology and presence of the 'muscle texture sign' within the amputation flap. Examinations were grouped according to time from surgery. Examinations demonstrating local recurrence were assessed for site, signal intensity, morphology and axial dimensions of recurrent tumour. Comparison was made to pre-operative imaging. RESULTS: Thirty-five patients with postoperative MR images were identified. Seventy-seven examinations were reviewed (range 1-18 per patient). The 'normal group' comprised 18 patients (seven female, 11 male, mean age 44 years, range 16-75 years), with 47 examinations reviewed. The 'muscle texture sign' was preserved in all examinations in this group. Up to 6 months after surgery, 100% (10) of examinations showed hyperintense T2- and short-tau inversion recovery (STIR-weighted) signals within the muscle flap, indicating oedema. Only after 4 years was the muscle flap signal isointense in all cases (13). Up to 6 months after surgery, 50% (5 of 10) of examinations demonstrated flap swelling, but after 1 year, 100% (28) showed atrophy. Twenty percent (2 of 10) of examinations 0-6 months from surgery showed hyperintense T1-weighted signal within the muscle flap, consistent with fatty infiltration, but after 2 years, 100% (20) showed a hyperintense T1-weighted signal. The 'local recurrence' group comprised 20 patients (six female, 14 male, mean age 45.7 years, range 14-69 years), with 30 examinations demonstrating recurrent disease or metastasis. There were 23 recurrent tumours, of which 43% (10) were in the muscle component of the amputation flap, 13% (3 of 23) were in subcutaneous tissues of the flap, 13% (3 of 23) were at the posterior margin of the bone resection and 13% (3 of 23) were paraspinal. All recurrent tumours demonstrated hyperintense T2 and STIR signals. The signal intensity pattern of recurrence closely followed that of the original tumour. The 'muscle texture sign' was absent in all examinations demonstrating recurrence in muscle flap. CONCLUSION: A pattern of time-related signal intensity and morphological changes is observed within normal hindquarter amputation flaps on MRI. Recurrent disease is most likely to occur within the muscle flap, typically of high T2-weighted signal intensity and characteristically follows the signal pattern of the original tumour.
参考中文摘要:
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
4
参考中文标题:
积极联系增加腘动脉血管壁的厚度和广义骨关节炎:是办公自动化的一部分,也是代谢综合征?
PMID及链接:
19575196 http://www.syyxw.com/Archive/Detail/19575196
摘 要:
PURPOSE: The purpose of the study was to determine if a positive association exists between arterial vessel wall thickness and generalized osteoarthritis (OA). Our hypothesis is that generalized OA is another facet of the metabolic syndrome. MATERIALS AND METHODS: The medical ethical review board of our institution approved the study. Written informed consent was obtained from each patient prior to the study. Magnetic resonance (MR) images of the knee were obtained in 42 patients who had been diagnosed with generalized OA at multiple joint sites. Another 27 MR images of the knee were obtained from a matched normal (non-OA) reference population. Vessel wall thickness of the popliteal artery was quantitatively measured by dedicated software. Linear regression models were used to investigate the association between vessel wall thickness and generalized OA. Adjustments were made for age, sex, and body mass index (BMI). Confidence intervals (CI) were computed at the 95% level and a significance level of alpha = 0.05 was used. RESULTS: Patients in the generalized OA population had a significant higher average vessel wall thickness than persons from the normal reference population (p < or = alpha), even when correction was made for sex, age, and BMI. The average vessel wall thickness of the popliteal artery was 1.09 mm in patients with generalized OA, and 0.96 mm in the matched normal reference population. CONCLUSION: The association found between increased popliteal artery vessel wall thickness and generalized osteoarthritis suggests that generalized OA might be another facet of the metabolic syndrome.
参考中文摘要:
目的:研究的目的是,确定一个积极的协会,如果之间存在着动脉血管壁的厚度和广义骨关节炎( OA ) 。我们的假设是,广义的另一个方面是办公自动化的代谢综合征。材料与方法:医学伦理审查委员会的机构批准了研究。书面知情同意,获得每个病人之前的研究。磁共振(先生)图像膝关节得到了谁在42例被诊断广义联合办公,在多个地点。另一位27 MR图像膝关节获得了匹配正常(非办公自动化)参考人口。血管壁的厚度腘动脉定量测量专用软件。线性回归模型,用于研究的相关性血管壁的厚度和广义办公。调整了年龄,性别和体质指数( BMI ) 。置信区间( CI )的计算在95 %的水平和意义的阿尔法= 0.05使用。结果:患者在全身骨关节炎有显着的人口平均血管壁的厚度比人的正常参考人口( p </= alpha), even when correction was made for sex, age, and BMI. The average vessel wall thickness of the popliteal artery was 1.09 mm in patients with generalized OA, and 0.96 mm in the matched normal reference population. CONCLUSION: The association found between increased popliteal artery vessel wall thickness and generalized osteoarthritis suggests that generalized OA might be another facet of the metabolic syndrome.
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
5
参考中文标题:
慢性运动室综合征的前臂摩托车车手:结果MRI上。
PMID及链接:
19609523 http://www.syyxw.com/Archive/Detail/19609523
摘 要:
INTRODUCTION: The purpose of this prospective study was to demonstrate the findings of MRI in motocross racers with chronic exertional compartment syndrome (CECS) of the forearm. MATERIALS AND METHODS: Racers with proven CECS and without CECS and male individuals not involved in strenuous activities with the forearm were included. Signal intensity (SI) and signal-to-noise ratio (SNR) obtained before and after exercise were compared (D-SNR). RESULTS: Magnetic resonance imaging after exercise showed an increase in SI and SNR in the muscles on T2-WI. The SI increase was obvious in the flexor digitorum superficialis (FDS) and profundus (FDP) in all CECS patients. In addition, a minor SI and SNR increase in the extensor carpi radialis longus (ECRL) was noted. In the non-symptomatic group of motocross racers, there was only a minor increase in SI and the SNR, which was similar in the FDP and ECRL muscles. In the untrained individuals a remarkable increase in the SI and SNR of the FDS/FDP-ECRL was noted. This increased SI and SNR was not present in the majority of non-symptomatic racers. CONCLUSION: Post-exertional MRI produces significant findings in CECS of the forearm. The motocross racers without post-exertional oedema in the FDP/FDS had no CECS.
参考中文摘要:
导言:这样做的目的是前瞻性研究的结果表明MRI在摩托车赛车慢性运动室综合征( CECS )前臂。材料与方法:赛车证明CECS和CECS和男子个人没有参与艰苦的活动,前臂被列入。信号强度( SI )和信号信噪比( SNR )获得运动前后进行了比较(丁信噪比) 。结果:磁共振成像显示,运动后增加了SI和信噪比的肌肉在T2加权像。社会主义增长明显屈指浅(科特迪瓦)和深(自民党)在所有CECS患者。此外,未成年人SI和信噪比增加,桡侧腕长( ECRL )指出。在非症状组的摩托车车手,只有轻微增加, SI和信噪比,这是同类中的果糖和ECRL肌肉。在未受过训练的人明显增加的SI和信噪比的科特迪瓦/果糖- ECRL指出。这就增加了SI和信噪比不在场的大多数非症状赛车。结论:后运动产生重大的MRI结果CECS前臂。没有的摩托车车手后劳力水肿的果糖/科特迪瓦没有CECS 。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
6
参考中文标题:
年龄骨髓依赖T2变化在小儿手腕MRI检查。
PMID及链接:
19662404 http://www.syyxw.com/Archive/Detail/19662404
摘 要:
OBJECTIVE: Hyperintensity of the bone marrow on fluid-sensitive sequences can be seen on magnetic resonance imaging (MRI) during childhood, even in the absence of bone pathology. They can be related to hematopoietic marrow, normal and abnormal bone remodeling. We sought to investigate whether hyper intensity of the bone marrow on MRI of the wrist is age-dependent and to evaluate if this signal follows a consistent age-related pattern. MATERIALS AND METHODS: Thirty-one wrist 1.5 T MR images of children (7-18 years) without suspected bone pathology were evaluated for foci of hyperintense bone marrow seen on fluid-sensitive coronal sequences using a scale of 1-3. Correlation of frequency, location and intensity of these foci with age was obtained. Results were analyzed for distribution in single bones and in the following regions: distal forearm, first/second carpal rows, and metacarpal bases. RESULTS: A total of 448 bones were evaluated. Eighty-eight out of 448 (21 out of 31 wrists) showed hyperintense bone marrow seen on fluid-sensitive sequences. The distribution was: radius in 19, ulna in 19, first metacarpal base in 11, scaphoid in 9, lunate in 6, pisiform in 6, and fifth metacarpal base in 1. The involvement of the first and second carpal rows and the metacarpal bases was almost similar (13, 12, and 12 respectively). In the distal forearm, the intensity was similar to or higher than that in the wrist (2.2 vs. 2.0). Frequency decreased with age (100% at 7-9 and 25% at 16-18 years). CONCLUSION: Foci of hyperintense bone marrow seen on fluid-sensitive sequences can be seen on MRI of the wrist during childhood even without apparent symptoms. It shows a consistent pattern with maturation: frequency and intensity decrease and there is distal-to-proximal resolution. This may be a normal finding that may represent normal bone remodeling or decreasing hematopoietic marrow and should not be confused with pathological bone marrow edema.
参考中文摘要:
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
7
参考中文标题:
的存在和淋巴管的情况下,在成人椎间盘突出:病理关系到光盘。
PMID及链接:
19727710 http://www.syyxw.com/Archive/Detail/19727710
摘 要:
OBJECTIVE: Although the normal adult human intervertebral disc is considered to be avascular, vascularised cellular fibrous tissue can be found in pathological conditions involving the disc such as disc herniation. Whether lymphatics vessels form a component of this reparative tissue is not known as the presence or absence of lymphatics in herniated and normal disc tissue is not known. We examined spinal tissues and discectomy specimens for the presence of lymphatics. METHODS: The examination used immunohistochemistry to identify the specific lymphatic endothelial cell markers,podoplanin and LYVE1. RESULTS: Lymphatic vessels were not found in the nucleus pulposus or annulus fibrosus of intact, non-herniated lumbar and thoracic discs but were present in the surrounding ligaments. Ingrowth of fibrous tissue was seen in 73% of herniated disc specimens of which 36% contained LYVE1+/podoplanin + lymphatic vessels. Lymphatic vessels were not seen in the sacrum and coccyx or biopsies of four sacrococcygeal chordomas, but they were noted in surrounding extra-osseous fat and fibrous tissue at the edge of the infiltrating tumour. CONCLUSION: Our findings indicate that lymphatic vessels are not present in the normal adult intervertebral disc but that, when there is extrusion of disc material into surrounding soft tissue, there is ingrowth of reparative fibrous tissue containing lymphatic vessels. Our findings also indicate that chordoma, a tumour of notochordal origin, spreads to regional lymph nodes via lymphatics in para-spinal soft tissues.
参考中文摘要:
目的:虽然正常成人椎间盘被认为是缺血性,vascularised纤维组织细胞可在涉及诸如椎间盘突出症的病理条件下找到光盘。无论淋巴血管形成修复组织的这个组件不被称为存在或在腰椎间盘组织和正常不知道的情况下淋巴管。我们审查了存在的淋巴组织和椎间盘切除术脊柱标本。方法:采用免疫组织化学,以确定具体的淋巴管内皮细胞标记,Podoplanin与LYVE1考试。结果:淋巴管未发现髓核或完整,不腰和胸部光盘纤维环但在周围韧带存在。纤维组织内生被视为73%的腰椎间盘标本,其中36%含有LYVE1 + /的podoplanin +淋巴管。淋巴管没有出现在骶尾骨或4骶尾部脊索瘤活检,但他们在周围在肿瘤浸润边缘外骨脂肪和纤维组织指出。结论:我们的研究结果表明,淋巴管,不存在正常成人椎间盘但到周围的软组织,当出现的光盘材料挤压后,其修复含淋巴管纤维组织长入。我们的研究结果还表明,脊索瘤,脊索起源的肿瘤,扩散到区域淋巴结经淋巴管段脊髓软组织。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
8
参考中文标题:
放射测量较小的转子及其临床意义中。
PMID及链接:
19277649 http://www.syyxw.com/Archive/Detail/19277649
摘 要:
OBJECTIVE: Femoral fracture is a major cause of morbidity and mortality in elderly persons. Surgery, the main choice of treatment of femoral fracture, may result in some complications severely affecting patients' daily activities due to femoral malalignment. The lesser trochanter is an important anatomical structure of the femur which could be used as an anatomical landmark during and after operation to evaluate femoral alignment. To predict femoral rotational malalignment during surgery, the relationship between the height and width of the lesser trochanter and femoral rotation at different angles was investigated. METHODS: Fifty healthy adult volunteers (25 men and 25 women) were enrolled in this study and a total of 900 radiographs of proximal femurs were taken in the following positions: neutral position, 5 degrees, 10 degrees, 15 degrees, and 20 degrees internal rotation, and 5 degrees, 10 degrees, 15 degrees, and 20 degrees external rotation, respectively. The cranio-caudal and transverse diameters of the lesser trochanter were obtained on a PACS Workstation. RESULTS: The height and width of the lesser trochanter increased with external rotation and decreased with internal rotation and the values showed statistical significance between different positions or different genders. Between 20 degrees of internal rotation to 20 degrees of external rotation, the mean height increased from 0.58 cm to 1.23 cm in men and from 0.44 cm to 1.19 cm in women. The corresponding mean values for width were from 2.53 cm to 4.44 cm in men, and from 2.08 cm to 3.86 cm in women, respectively. The height and width of the lesser trochanter were both highly correlated to the position of femur and the linear relationship was established approximately. The morphological alteration of lesser trochanter also changed obviously when the femurs rotated. CONCLUSIONS: The height and width of the lesser trochanter is linearly related to femoral rotation and could be used as a reference for prevention of femoral malalignment during surgery.
参考中文摘要:
目的:股骨骨折是一个重要的发病和死亡的主要原因中老年人。外科手术,主要选择治疗股骨骨折,可能会导致一些并发症,严重影响病人的日常活动,由于股骨异常。小转子是一个重要的解剖结构股骨可以用来作为解剖标志期间和手术后,评估股对齐。预测股骨手术中旋转异常之间的关系的高度和宽度小转子和股骨旋转不同的角度进行了研究。方法:健康成人志愿者( 25男25女)参加了这项研究,共900片股骨近端采取了以下职位:中立的立场, 5度, 10度, 15度和20度的内部轮换, 5度, 10度, 15度和20度的外旋分别。颅骶管和横向直径较小的转子上获得的PACS工作站。结果:高度和宽度的增加较少转子与外部轮换和降低内部轮换和价值观显示统计学上的意义不同的立场或不同性别。 20度之间的内部轮换,以20度的外旋,平均身高增加了从0.58厘米到1.23厘米的男性和来自0.44厘米以一点一九厘米妇女。相应的平均值为宽度分别来自二点五三厘米以四点四四厘米男子,并从二点〇八厘米以三点八六厘米妇女分别。的高度和宽度小转子都是高度相关的立场,股骨和线性关系确定了约。形态学改变较小转子也发生了变化明显时,股骨旋转。结论:高度和宽度的小转子是线性关系股骨旋转,可以用作参考,以防止手术中股骨异常。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
9
参考中文标题:
估计pretraumatic股antetorsion双边股骨干骨折。
PMID及链接:
19609522 http://www.syyxw.com/Archive/Detail/19609522
摘 要:
OBJECTIVE: To describe a system for measurement of the pretraumatic femoral antetorsion angle post-bilateral femoral shaft fracture with the use of new imaging software which allows segmentation and three dimensional (3D) reconstruction of DICOM (digital imaging and communications in medicine) images. MATERIAL AND METHODS: This case involved a 20-year-old patient with bilateral femoral shaft fractures. Following initial clinical examination, CT scans of both femurs were performed. Subsequently, the DICOM datasets were uploaded to the new software tool. Following segmentation and 3D reconstruction, pretraumatic femoral antetorsion angles were determined. RESULTS: Femoral antetorsion was described and assessed in two ways by referring to the intersection of the posterior condylar plane and (1) a line drawn between the center of the femoral head and femoral neck, (2) a line drawn between the centers of the femoral head and greater trochanter. Using these definitions, values for femoral antetorsion were found to be, respectively, 20 degrees at the right fracture site and 19 degrees on the left site, and 33 degrees bilaterally. DISCUSSION: The investigators describe in this current technical report the use of new imaging software which enables the calculation of femoral AV following reduction of virtual fracture fragments which are created from standard DICOM images. We believe that this 3D reconstruction method of measuring the antetorsion angle can be integrated into a regular treatment algorithm and may potentially optimize clinical outcomes.
参考中文摘要:
目的:描述一个系统的测量pretraumatic股antetorsion角后双边股骨干骨折使用新的成像软件,能够分割和三个三维( 3D )重建的DICOM (数字成像和通信医学)的图像。材料与方法:这宗个案涉及一名20岁的病人,双边股骨干骨折。以下初步临床检查, CT扫描均股骨进行。随后, DICOM标准的数据上传到新的软件工具。下面的分割和三维重建, pretraumatic股antetorsion角度进行了测定。结果:股骨antetorsion被描述和评估的方法有两种提到的交汇后髁飞机( 1 )之间划出一条线的中心股骨头和股骨颈, ( 2 )画线的中心之间的股骨头大转子。使用这些定义,价值股antetorsion被发现,分别在20度的权利骨折网站和19度左侧的网站,以及33度双边。讨论:在这个调查说明目前的技术报告,使用新的图像软件,使计算的AV股骨以下减少虚拟骨折碎片是由标准DICOM标准的图像。我们认为,这三维重建测量方法antetorsion角度可被集成在常规治疗方法,且有可能优化临床结果。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
10
参考中文标题:
单方面增生左后弓和相关椎体劈裂在胶质瘤的水平。
PMID及链接:
19633840 http://www.syyxw.com/Archive/Detail/19633840
摘 要:
We report on a 5-year-old girl with unilateral hyperplasia of the left posterior arch of C6 associated with spina bifida occulta at the same level. Anteroposterior and lateral radiographs of the cervical spine showed hypertrophy of the left lamina as well as overgrowth and elongation of the left spinous process of the sixth cervical vertebra. Computed tomography (CT) examination better depicted this congenital variant and clearly showed the associated schisis of the posterior arch at the same level. Magnetic resonance (MR) imaging examination ruled out other spinal anomalies. The neck pain, the young age of the patient and the local aesthetic abnormality contributed to the surgical indication. To the best of our knowledge, this is the first case in the English literature of unilateral hyperplasia of a posterior cervical arch. Only one previous study has reported a similar congenital anomaly, but it was limited to the left side of the spinous process.
参考中文摘要:
我们报告一个5岁的小女孩的单方面增生左后弓的C6与脊柱裂,隐性在同一水平。前后和侧面的X光片显示,颈椎肥大的左侧板以及过度和伸长左棘突第六颈椎。计算机断层扫描( CT )检查更好地描述这一先天性变异,并清楚地表明,相关劈裂后拱在同一水平。磁共振(先生)影像学检查排除其他脊髓异常。颈部疼痛,年轻的年龄,病人和当地的审美异常有助于手术适应证。据我们所知,这是第一宗案件中英文文献的单方面增生的颈椎后路拱。只有一个先前的研究报告了类似的先天性异常,但仅限于左侧棘突。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
11
参考中文标题:
与病理骨折和骨关节病的遗传结骨发育不良。
PMID及链接:
19756588 http://www.syyxw.com/Archive/Detail/19756588
摘 要:
A father and daughter both had multiple pathological fractures and nodal osteoarthropathy. The father, aged 50 years, had at least 20 healed fractures of the axial and appendicular skeleton, sustained by minor trauma over his 50-year lifespan, many of which had been surgically fixed prior to his first presentation to us. Fractures of the clavicles, thoracic cage and long bones of the arms and legs, had healed with malalignment and deformity. Healed fractures were complicated by ankylosis of the cervical vertebrae and both elbows. He also had osteoarthritis of the hands, with exuberant osteophytosis, and profound perceptive deafness. His general health was good, his intellect and facies were normal, and his sclerae were white. The daughter, aged 27 years, had sustained at least seven fractures of the axial and appendicular skeleton following trivial injuries, in distribution similar to those of the father.She had also experienced painful swelling of the fingers,which preceded progressive development of nodal osteoarthropathy.Her hearing was normal. In both individuals,biochemical and immunological investigations yielded normal results. It was not possible for molecular studies to be undertaken. Pedigree data were consistent with autosomal dominant transmission, and this disorder appeared to be a previously undocumented heritable skeletal dysplasia.
参考中文摘要:
父亲和女儿两人都多次病理性骨折和结骨关节病。的父亲,50岁,至少20轴向和附肢骨骼愈合骨折,在他的持续轻微外伤50年寿命,其中许多已经固定手术前,他首先向我们介绍。在锁骨,胸廓及手臂和腿长骨骨折,已经愈合的排列异常和畸形。骨折愈合复杂的颈椎都肘部关节强直。他还收到了手中的骨关节炎,以旺盛的骨赘,耳聋和深刻的洞察力。他的总体健康良好,他的智慧和相正常,他的巩膜是白人。女儿,年龄27岁,遭受了至少7名轴向和附肢骨骼骨折受伤后微不足道的,在分配类似father.She人也经历过痛苦的手指,这之前的结骨关节肿胀逐渐发展。她的听力是正常的。在这两个个人,生化和免疫学调查取得了正常的结果。这是不可能的分子进行研究。系谱数据均符合常染色体显性传播,这种疾病似乎是一个此前没有遗传骨骼发育不良。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
12
参考中文标题:
成人发病型糖原贮积症Ⅱ(成人发病庞贝氏症):报告和两起案件核磁共振图像。
PMID及链接:
19771425 http://www.syyxw.com/Archive/Detail/19771425
摘 要:
Glycogen storage disease type II (GSDII), also referred to as Pompe disease or acid maltase deficiency, is a rare inherited condition caused by a deficiency in acid alpha-glucosidase (GAA) enzyme activity (Tinkle andLeslie. GeneReviews, 2008. http://www.genetests.org). The condition is often classified by age of presentation,with infantile and late onset variants (Laforet et al. J Neurology 55:1122-8, 2000). Late onset tends to present with progressive proximal muscle weakness and respiratory insufficiency (Winkel et al. J Neurology 252:875-84, 2005). We report two cases of biopsy confirmed adulto nset GSDII, along with key Magnetic Resonance (MR) images.
参考中文摘要:
糖原累积病Ⅱ型(GSDII),也称为庞贝氏症或酸性麦芽糖酶缺乏症,是一种罕见的遗传条件,由阿尔法酸缺乏-葡萄糖苷酶(全球艾滋病联盟)酶活动造成的(叮当声andLeslie。GeneReviews,2008。呻/ www.genetests.org)。这种状况往往是归类编排年龄,婴幼儿和迟发性变种(拉福雷特等。ĵ神经55:1122-8,2000)。迟发性往往会与进步的近端肌肉无力及呼吸衰竭目前(温克尔等人。ĵ神经252:875-84,2005)。我们报告两例经活检adulto nset GSDII,以及重要的磁共振(MR)的图像。
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)
13
参考中文标题:
逐步恶化的63左腿,步态干扰和便秘感觉异常岁的男子。
PMID及链接:
19662402 http://www.syyxw.com/Archive/Detail/19662402
中文提供:
测试求助:
求助全文(仅为测试发帖,无法获取全文)