一个面向C＋＋的度量工具的设计与实现

在讨论面向对象度量若干方法的基础上,着重介绍了一个关于度量Ｃ＋＋代码的度量工具的设计和实现。     

A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region

We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7–81 years) and were used in a gene-linkage analysis. Linear regression analysis of the audiograms, using binaural mean thresholds, disclosed on average a descending slope of approximately 10 dB/octave at any age and an annual threshold increase at any frequency of about 0.7 dB/year. There may have been substantial congenital impairment at higher frequencies, but longitudinal analysis of hearing impairment in the youngest case, who was followed from age 5 years, suggested that the most significant changes in hearing may have occurred in the first two decades of life. Linkage analysis was carried out with special attention to the DFNA2 region because hearing trends were very similar to families previously linked to DFNA2. Linkage to DFNA2 was established with maximum lod scores of 4.7 and 3.2 for the flanking markers of the DFNA2 region (D1S432;MYCL1). Received: 25 February 1999 / Accepted: 11 June 1999     

A dominant form of neuronal ceroid-lipofuscinosis

Summary The study of the ultrastructure of the sural nerve and peripheral blood lymphocytes of a boy with late-infantile neuronal ceroid-lipofuscinosis revealed the presence of curvilinear bodies and fingerprint profiles. The elder sister of the patient died at the age of 7 years after progressive mental and motor deterioration. The same kind of cytoplasmic inclusions was found in the lymphocytes of the father of these children, who had had epilepsy since the age of 32. Clinical data and the results of the ultrastructural study suggest that in the same family two different forms of ceroid-lipofuscinosis appear and that the disease is inherited as an autosomal dominant trait. This family seems to suggest the nosological unity of clinically different forms of ceroid-lipofuscinosis.This work was supported by AMDA grant 1979–1980     

Adult from of basal cell navevus syndrome: A family study

Summary A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and retinal detachment, and severe neurological abnormality: bilateral pyramidal involvement, fasciculation in all limbs and gait ataxia. Skull radiographs showed internal frontal hyperostosis; CT scan showed calcification of the falx cerebri, and multiple arachnoid cysts were shown by myelography. A naevoid lesion had previously been removed from the left forearm. There was a history of ophthalmological symptoms in the mother and the daughter of the propositus. His son has café au lait spot on the abdomen and dentigerous cysts. The diagnosis of an adult form of basal cell naevus syndrome with an autosomal dominant mode of inheritance is discussed.This work was supported by grants from the F.R.S.M. of Belgium no. 3.4543.77 (Prof. P. Danis) and no. 3.4538.76 (Prof. C. Coërs) and the Free University of Brussels     

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

Measurements of the intraorbital optic nerve were made using high-resolution coronal MRI in 10 adults with autosomal dominant optic atrophy. Comparisons were made with previous studies of 10 normal adult subjects. The cross-sectional diameters of the optic nerve and the perineural subarachnoid space were measured and a ratio of there diameters at anterior, mid and posterior positions along the optic nerve was determined. We found a statistically significant difference in the mean optic nerve: sheath ratio between the control group and patients with autosomal dominant optic atrophy. At anterior, mid and posterior locations along the optic nerve it is significantly smaller in patients with optic atrophy. We have demonstrated that the loss of ganglion cells, previously documented in dominant optic atrophy, is associated with a significant loss of optic nerve tissue and thinning of the nerve along its length. Received: 6 July 1999/Accepted: 22 July 1999     

Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene

Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADASIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene. Received: 17 February 1999 Accepted: 23 July 1999     

口腔癌前病变和鳞癌组织中hMSH2蛋白表达的初步探讨

目的:探讨错配修复基因hMSH2的表达与口腔鳞癌发生、发展的关系.方法:采用Western Blot和免疫组化方法检测正常口腔上皮组织、癌旁组织和鳞癌组织中hMSH2的蛋白含量和组织分布.结果:Western Blot检测发现口腔正常上皮组织与癌旁上皮组织的hMSH2表达无明显差异(P＞0.05),而鳞癌上皮内hMSH2蛋白表达较前两者显著增加(P＜0.05).免疫组化结果显示正常上皮内仅见基底层细胞胞核阳性表达;癌旁上皮内hMSH2蛋白表达与异常增生程度有关,异常增生明显的上皮,胞核阳性表达的细胞亦较多;hMSH2蛋白在鳞癌上皮全层细胞胞核内呈阳性表达.所有细胞的胞浆均未见阳性表达.结论:在口腔鳞癌组织中hMSH2蛋白表达水平升高,表明hMSH2的表达在口腔鳞癌的发生、发展过程中可能存在表观遗传调节.     

Nephrolithiasis associated with autosomal dominant polycystic kidney disease: contemporary urological management

PURPOSE: We evaluate the role of contemporary urological intervention in patients with nephrolithiasis associated with autosomal dominant polycystic kidney disease. MATERIALS AND METHODS: Intervention for upper tract stones associated with autosomal dominant polycystic kidney disease was performed in 5 women and 2 men 29 to 65 years old (mean age 47). Indications for intervention consisted of flank pain in 6 patients and/or hematuria in 2. A total of 12 procedures (mean 1.7 per patient) were performed, including shock wave lithotripsy in 6 patients, percutaneous nephrolithotomy in 2, retrograde endoscopy or manipulation in 3 and extended pyelonephrolithotomy in 1. RESULTS: All patients were rendered stone-free or had only residual "dust." Hospital stay for 5 patients was 1 night or less and there were no complications. Renal function for each patient was stable or improved as measured by serum creatinine. CONCLUSIONS: Most patients with autosomal dominant polycystic kidney disease who require intervention for nephrolithiasis can be safely and effectively treated with essentially any or all contemporary, minimally invasive techniques. The choice of intervention can be based primarily on size and location of the upper tract stones rather than the associated presence of polycystic kidneys.     

先天性广泛眼外肌纤维化综合征一家系临床表型及基因连锁定位分析

目的 分析一个先天性广泛眼外肌纤维化综合征(CFEOM)家系的临床表型，并通过连锁分析方法来定位该家系的致病基因。方法 对家系中的所有患者进行临床检查。根据目前已知的两种常染色体显性遗传类型的CFEOM的遗传学位点12p11．2-q12(FEOM1)和16q24(FEOM3)选取微卫星进行连锁分析研究。结果 家系中4名患者具有典型的CFEOM表现。连锁分析显示，微卫星D12S59、D12S1048、D12S1648在所有患者中与疾病呈现共分离现象，其中D12S1048最大Lod值为1．91，而在微卫星D12S61和D12S1090处出现重组，表明该家系的致病基因位于这两个微卫星之间。结论此家系属常染色体显性遗传的CFEOM 1型，其致病基因定位于12p11．2-q12的D12S61和D12S1090之间。     

相对封闭区域内人指纹的遗传特性研究

不同民族指纹纹型分布不同 ,同民族、不同地区人的指纹纹型分布也有差异。以一个较封闭群体为对象 ,研究指纹的遗传规律 ,发现斗型和尺箕型具有较强的显性特征。决定尺箕的基因可能也影响弓型纹型的表达 ,决定斗型纹型的基因可能也影响双箕斗纹型的表达