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81.
Kun Hwang MD PhD Ei Tae Kim MD Se Il Lee MD DMSc 《The Journal of foot and ankle surgery》2005,44(6):473-477
The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence. 相似文献
82.
Benign schwannoma of the pancreas 总被引:2,自引:0,他引:2
Labile Togba Soumaoro Kenichi Teramoto Tohru Kawamura Noriaki Nakamura Takahiro Sanada Kenichi Sugihara Shigeki Arii 《Journal of gastrointestinal surgery》2005,9(2):288-290
Reported cases of intrapancreatic schwannomas have recently increased in the literature. However, none of these cases were
diagnosed clearly as schwannoma preoperatively. We herein describe the clinicopathologic findings of a solitary benign schwannoma
occurring in the head of the pancreas. Additionally, the differential diagnosis versus other cystic- and solid-appearing pancreatic
masses is briefly discussed. 相似文献
83.
Hung J. Kim Torrance Jackson Konrad Noben–Trauth 《Journal of the Association for Research in Otolaryngology》2003,4(1):83-90
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. 相似文献
84.
Abstract Surgical treatment of proximal humeral fractures still remains a challenge. This is primarily due to the fact that sufficient
implant fixation in humeral head fractures is often not achieved due to substantial bone tissue loss with increasing age.
In the last few years the locking plates and locking nails have been introduced into clinical practice with varying results.
The biomechanical studies have focused on locking plate osteosynthesis as well. The following paper focuses on bone quality,
biomechanical studies and biology of proper osteosynthesis and reviews the most recent literature. 相似文献
85.
Andrew M Briggs John D Wark Susan Kantor Rayson Teh Alison M Greig Nicola L Fazzalari Kim L Bennell 《Journal of clinical densitometry》2005,8(3):314-319
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. 相似文献
86.
87.
Uta Kraus-Tiefenbacher Lelia Bauer Antonella Scheda Carola Schoeber Joerg Schaefer Volker Steil Frederik Wenz 《BMC cancer》2007,7(1):178
Background
For patients suffering of recurrent breast cancer within the irradiated breast, generally mastectomy is recommended. The normal tissue tolerance does not permit a second full-dose course of radiotherapy to the entire breast after a second breast-conserving surgery (BCS). A novel option is to treat these patients with partial breast irradiation (PBI). This approach is based on the hypothesis that re-irradiation of a limited volume will be effective and result in an acceptable frequency of side effects. The following report presents a single center experience with intraoperative radiotherapy (IORT) during excision of recurrent breast cancer in the previously irradiated breast. 相似文献88.
89.
90.
Jae-Seung Paick Soo Woong Kim Seung-June Oh Ja Hyeon Ku 《International journal of urology》2007,14(8):699-703
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. 相似文献