Genetic Analyses of the Mouse Deafness Mutations Varitint-Waddler (Va) and Jerker (Espnje)

Genetic studies on spontaneous mouse mutants with hearing defects have provided important insights into the function of genes expressed in inner ear hair cells. Here we report on our genetic analyses of the deaf mutants varitint-waddler (Va) and jerker (Espnje). A high-resolution genetic map localizes VaJ to a 0.14 ± 0.08 cM region between D3Mit85 and D3Mit259 on distal chromosome 3. By comparative mapping, the human ortholog resides at 1p22.3 between markers D1S3449 and D1S2252. To study the effect of different genetic backgrounds on the hearing phenotype, Espnje and VaJ were crossed to various inbred strains. Auditory-evoked brainstem response tests on F2 progeny demonstrate that expression, inheritance, and penetrance of the hearing phenotype are solely controlled by the mutant allele. To test for a genetic interaction between Espnje and Cdh23v, auditory function was analyzed in double heterozygotes; no significant increases of thresholds of sound pressure levels were observed. The results establish the framework for cloning the Va gene and provide valuable insights into the genetics of deafness mutations in the mouse.     

In vivo intrarater and interrater precision of measuring apparent bone mineral density in vertebral subregions using supine lateral dual-energy x-ray absorptiometry.

Analysis of apparent bone mineral density (BMD) in the lumbar spine is commonly based on anteroposterior (AP) scanning using dual-energy X-ray absorptiometry (DXA). Although not widely used, clinically important information can also be derived from lateral scanning. Vertebral bone density, and therefore strength, can may vary in different subregions of the vertebral body. Therefore, subregional BMD measurements might be informative about fracture risk. However, the intrarater and interrater precision of in vivo subregional BMD assessments from lateral DXA remains unknown. Ten normal, young (mean: 24 yr) and 10 older (mean: 63 yr) individuals with low BMD were scanned on one occasion using an AP/lateral sequence. Each lateral scan was reanalyzed six times at L2 by three raters to determine the intrarater and interrater precision in selecting seven regions of interest (subregions). Precision was expressed using percentage coefficients of variation (% CV) and intraclass correlation coefficients (ICC). Intrarater precision ranged from ICC(1,1) 0.971 to 0.996 (% CV: 0.50-3.68) for the young cohort and ICC(1,1) 0.934 to 0.993 (% CV: 1.46-5.30) for the older cohort. Interrater precision ranged from ICC(2,1) 0.804 to 0.915 (% CV: 1.11-2.35) for the young cohort and ICC(2,1) 0.912 to 0.984 (% CV: 1.85-4.32) for the older cohort. Scanning a subgroup of participants twice with repositioning was used to assess short-term in vivo precision. At L2, short-term in vivo precision ranged from ICC(1,1) 0.867 to 0.962 (% CV: 3.38-9.61), at L3 from ICC(1,1) 0.961 to 0.988 (% CV: 2.02-5.57) and using an L2/L3 combination from ICC(1,1) 0.942 to 0.980 (% CV: 2.04-4.61). This study demonstrated moderate to high precision for subregional analysis of apparent BMD in the lumbar spine using lateral DXA in vivo.     

自体骨膜游离移植的实验研究--不同龄动物大块关节软骨缺损修复的比较

目的研究比较自体骨膜移植软骨再生修复不同龄动物大块关节软骨缺损。方法用52只不同龄家兔自体骨膜游离移植修复大块关节软骨缺损,比较移植骨膜生发层朝向关节腔与松质骨时再生软骨的差别。结果经不同时期肉眼和组织学检查证实,幼年兔和成年兔的骨膜移植都能生成软骨,修复大块关节软骨缺损。在成年兔骨膜再生的软骨与成年兔本身周围正常软骨的厚度、组织结构一样。移植骨膜生发层朝向关节腔与松质骨二者间再生软骨结果无明显差别。结论骨膜具有再生软骨的能力,可用来移植修复关节软骨的缺损。骨膜移植生发层不同朝向对软骨再生无明显影响。成年后骨膜移植修复关节软骨缺损能够生成与自身相适应的软骨。     

Role of Multiple Scouting Biopsies before Mohs Micrographic Surgery for Extramammary Paget's Disease

Background. Extramammary Paget's disease (EMPD) frequently extends subclinically, resulting in high recurrence rates after surgical excision. Mohs micrographic surgery (MMS) improves cure rates but may require time-consuming reexcision of subclinical extension. A mechanism to estimate the location and extent of subclinical extension would be helpful.
Objective. To describe and evaluate a technique for multiple scouting biopsies before MMS for EMPD.
Method. A retrospective review of patients at Mayo Clinic who had multiple scouting biopsies before MMS for EMPD without dermal invasion.
Technique. The clinical extent of EMPD is identified. The scouting biopsy sites are determined and documented with photographs. The scouting biopsy specimens are sent for permanent sections. The results of the scouting biopsies help guide the extent of the initial Mohs layer. The tumor is cleared with MMS. An additional 1 mm peripheral margin of tissue is usually submitted for permanent sections.
Results. Multiple scouting biopsies were done in five patients. Four of the five patients had at least one true-positive result. At least one true-negative result was obtained in all five patients. Two patients had at least one false-negative result.
Conclusion. Multiple scouting biopsies before MMS for EMPD without dermal invasion can be a beneficial adjuvant technique.
DAVID L. APPERT, MD, CLARK C. OTLEY, MD, P. KIM PHILLIPS, MD, AND RANDALL K. ROENIGK, MD, HAVE INDICATED NO SIGNIFICANT INTEREST WITH COMMERCIAL SUPPORTERS.     

沙培林增强人腹腔巨噬细胞抗癌免疫功能的研究

目的:探讨腹腔内注射沙培林增强人腹腔抗癌免疫功能的机制。方法:72例早中期胃肠道肿瘤患者术前48h和24h腹腔内分别注射生理盐水和5KE的沙培林,术中采集腹腔内巨噬细胞,计数并测定乳酸脱氢酶(LDH)和酸性磷酸酶(ACP)的活性,巨噬细胞吞噬活力,一氧化氮(NO)的分泌以及对人胃癌MKN1细胞的细胞毒性进行分析。同时采集大网膜,对大网膜乳斑的数量和面积进行观察。结果:沙培林显著增加腹腔巨噬细胞(PMΦ)的数量和NO的分泌,增强LDH和ACP的活性,吞噬活力,以及抗癌细胞毒性,也显著增加了大网膜乳斑的数量和面积。结论:腹腔内注射沙培林可显著增加人大网膜乳斑的数量和面积,并因此增加PMΦ的数量,增强PMΦ的活性。因而增强了腹腔巨噬细胞的免疫功能。     

Voiding patterns in men and women with lower urinary tract symptoms combined with nocturia

AIM: We evaluated differences between men and women with lower urinary tract symptoms (LUTS) combined with nocturia. METHODS: A total of 71 age-matched female-male pairs (median 58, range 20-81 years) who had moderate to severe LUTS and nocturia of more than once per night were enrolled in this study. RESULTS: In the younger group (<50 years), the International Prostate Symptom Score (I-PSS) results of the sexes were not significantly different. However, although total I-PSS results in the elderly group (> or =50 years) were not significantly different, quality of life index scores for women were higher (P = 0.002). On frequency-volume (FV) charts, mean total daytime voided volume (DVV) was significantly higher in younger men than in younger women (P = 0.017), but the mean nocturnal polyuria index (NPi) for women was higher than that for men (P = 0.047). However, maximum DVV (P = 0.009), mean DVV (P < 0.0001), total DVV (P < 0.0001), and mean nocturnal urine volume (P = 0.009) were significantly higher in elderly men than in elderly women. However, numbers of daytime voids were not different. CONCLUSION: Elderly women with LUTS have lower functional bladder capacities than elderly men, as suggested by their smaller mean voided volumes. However, no significant differences were observed between numbers of daytime voids, which was probably due to the smaller total daytime voided volumes of elderly women. In addition, although NPi for younger women and nocturnal urine volume for elderly men was higher, no other differences were observed in terms of other night-time parameters.     

Up-regulation of urinary UPIII mRNA levels in vesicoureteral reflux patients: Potential application as a screening test for vesicoureteral reflux

OBJECTIVES: Vesicoureteral reflux (VUR) is the most common congenital urinary tract anomaly. This disease can pose a major threat to the kidneys as twenty percent of patients with endstage renal disease are reported to have VUR. Although genetic studies for uroplakin III (UPIII) have been reported recently, no study has focused on UPIII gene expression in VUR patients. We describe here the up-regulation of UPIII mRNA in exfoliated urinary cells from primary VUR patients. METHODS: A real-time RT-PCR for UPIII mRNA was performed on exfoliated urothelial cells from 18 primary VUR and 38 control samples. UPIII mRNA copies were calculated for each sample. The statistical differences were assessed by the Mann-Whitney U test. Receiver operator characteristic curves were constructed for analysis of the diagnostic values. RESULTS: UPIII mRNA was found to be up-regulated to a greater extent in VUR than in control exfoliated urinary cells (mean +/- SE: 497.0 +/- 178.5 copies vs. 69.0 +/- 10.0 copies, respectively, P < 0.001). In evaluating the measurement of urinary UPIII mRNA as a screening test for VUR, the sensitivity was 77.8% and the specificity was 76.3% by the best diagnostic cutoff point. CONCLUSIONS: This is the first report demonstrating up-regulation of UPIII in mRNA levels in VUR patients. We submit that the quantitative measurement of urinary UPIII mRNA has a potential of developing into the first non-invasive screening test for VUR.     

应用胫前肌瓣修复胫骨骨髓炎合并软组织缺损

自1999年1月-2005年3月,应用胫前肌瓣修复胫骨骨髓炎合并软组织缺损13例,同时辅以中药治疗,获得较满意的效果,现报告如下。1临床资料本组13例,男9例,女4例;年龄18⁶7岁,平均32岁。致伤原因:车祸伤6例,挤压伤4例,烧伤1例,坠落伤2例。胫骨上1/3段1例,中1/3段2例,下1/3段5例,中下2/3段5例。病程12d³0个月,外露骨有干燥、硬化、发白、变黑,周围有肉芽、瘢痕组织、脓性分泌物等。外露骨纵形长0·6⁸·0cm,皮肤缺损面积最大为4cm×10cm。2治疗方法2·1手术方法在硬膜外麻醉下,股部上止血带,术区常规消毒。首先切除溃疡及外露胫骨周围瘢痕,清除髓腔内分泌物及