Familial Juvenile Nephronophthisis in Two Siblings — Histological Findings at an Early Stage —

We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN.     

医学美学与美容医学的整体学科研究

回顾医学美学与美容医学形成独立的学科系统的十多年来的发展历程，认为这个新兴学科在“整体学科”方面还存在一些学术问题有待人们进一步探讨。并认为，所谓“整体学科研究”是遵循该学科发展的内在规律所进行的各项研究的总和，是该学科发展的灵魂。学者们的任务在于：通过“整体学科研究”寻求其学科内在规律，经一代代同道有志者坚持不懈的努力，达到学科完善的目的。     

胰腺实性-假乳头状瘤影像与病理诊断分析

目的 探讨胰腺实性-假乳头状瘤的影像及病理学的诊断要点。资料与方法 回顾分析11例经手术切除、病理学和免疫组织化学证实的胰腺实性一假乳头状瘤患者的临床资料，以比较其影像和病理学特点。结果 (1)本病多发于30岁以下女性，临床主要表现为腹痛。(2)CT、MRI表现为肿瘤内有实性和囊性结构，可分为3型；特征性表现为“浮云征”。(3)肿瘤大部分位于胰腺，多有完整包膜，不伴有胆总管扩张。(4)病理学特点为肿瘤实性部分由实性区、假乳头区及两者过渡区以不同比例混合而成。囊性区由坏死、液化、陈旧性出血组成。(5)肿瘤的囊实性结构是形成“浮云征”的病理基础。结论 胰腺实性-假乳头状瘤有相对特征性的影像和病理学表现，术后预后较好。     

脊髓运动诱发电位在脊髓肿瘤手术中的监测应用

目的探讨脊髓运动诱发电位(SCMEP)在脊髓肿瘤手术中监测的应用价值.方法采用硬膜外电极在椎管内直接刺激脊髓记录脊髓运动诱发电位(SCMEP)监测脊髓肿瘤手术,并对17例肿瘤患者的手术监测的记录结果进行回顾性分析.结果SCMEP由于病变部位及性质、刺激电极与记录电极间的距离不同,波幅及潜伏期的差异较大,电极安放后与手术结束时的结果个体对照,相差不显著(P=0.083;P=0.387).7例术中波幅降低超过预警值20%,5例经短暂休息或改变手术方向后,波幅恢复正常.结论SCMEP的波幅变化是提示脊髓损伤的可靠性灵敏指标,对辅助医生进行手术安全操作,缩短手术时间,提高手术质量,减少术后神经功能障碍起到重要作用.     

Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis.

A genome-wide screen was conducted using a large white sample to identify QTLs for FNCS geometry. We found significant linkage of FNCS parameters to 20q12 and Xq25, plus significant epistatic interactions and sex-specific QTLs influencing FNCS geometry variation. INTRODUCTION: Bone geometry, a highly heritable trait, is a critical component of bone strength that significantly determines osteoporotic fracture risk. Specifically, femoral neck cross-sectional (FNCS) geometry is significantly associated with hip fracture risk as well as genetic factors. However, genetic research in this respect is still in its infancy. MATERIALS AND METHODS: To identify the underlying genomic regions influencing FNCS variables, we performed a remarkably large-scale whole genome linkage scan involving 3998 individuals from 434 pedigrees for four FNCS geometry parameters, namely buckling ratio (BR), cross-sectional area (CSA), cortical thickness (CT), and section modulus (Z). The major statistical approach adopted is the variance component method implemented in SOLAR. RESULTS: Significant linkage evidence (threshold LOD = 3.72 after correction for tests of multiple phenotypes) was found in the regions of 20q12 and Xq25 for CT (LOD = 4.28 and 3.90, respectively). We also identified eight suggestive linkage signals (threshold LOD = 2.31 after correction for multiple tests) for the respective geometry traits. The above findings were supported by principal component linkage analysis. Of them, 20q12 was of particular interest because it was linked to multiple FNCS geometry traits and significantly interacted with five other genomic loci to influence CSA variation. The effects of 20q12 on FNCS geometry were present in both male and female subgroups. Subgroup analysis also revealed the presence of sex-specific quantitative trait loci (QTLs) for FNCS traits in the regions such as 2p14, 3q26, 7q21 and 15q21. CONCLUSIONS: Our findings laid a foundation for further replication and fine-mapping studies as well as for positional and functional candidate gene studies, aiming at eventually finding the causal genetic variants and hidden mechanisms concerning FNCS geometry variation and the associated hip fractures.     

臀肌挛缩症的围手术期护理

臀肌挛缩症（gluteal muscle contracture，GMC）是由多种原因引起的臀肌及其筋膜纤维变性、挛缩，导致髋关节功能受限所表现的特有步态、体征的临床综合征。1989年陆裕朴在国内已有系统回顾后，我国病例报道逐渐增多，普及各大省市，特别是那些偏远的山区或基层农村。由于医疗卫生条件差，再加上人们的医疗卫生、保健知识缺乏，导致对本病的认识不足，该病的发病率农村明显的高于城镇。轻者造成患儿异常姿势和特殊步态。严重的可导致骨关节畸形、骨盆倾斜、跛行等。影响患者的正常发育及生活能力。     

米非司酮作用于兔输卵管收缩活动与Ca^2＋关系的研究

通过“结合化学分离与原子吸收分光光度法”对Ca^2 含量测定和离体输卵管肌条收缩记录方法，研究米非司酮（Ru486)对增加假孕（4d)兔输卵管平滑肌收缩频率，而不改变其收缩张力和振幅时与Ca^2 之间的关系，结果提示：（1）Ru486对输卵管分泌液和组织内Ca^2 的含量分布无明显影响；（2）Ru486具有降低细胞外液高Ca^2 浓度促Ca^2 内流，而使收缩增强的效应，且能协同Ca^2 通道阻断剂（Verapamil)抑制细胞外Ca^2 内流，而致收缩减弱的效应。     

51例早孕妇女绒毛超氧化物歧化酶测定结果分析

本文采用改良的邻革之酚自氧化法,对51例无遗传性疾病早孕妇女绒毛细胞进行了SOD活力测定。其比活力为426.2±48.4u/mg蛋白(x±SD),测定值范围为217.2～589.1u/mg蛋白,P95>915.0u/mg蛋白。