<Emphasis Type="Italic">Bcl11b</Emphasis>mutations identified in murine lymphomas increase the proliferation rate of hematopoietic progenitor cells

Background  

The telomeric region of mouse chromosome 12 has previously shown frequent allelic loss in murine lymphoma. The Bcl11b gene has been identified and suggested as a candidate tumor suppressor gene within this region. In this study, we aimed to elucidate whether Bcl11b is mutated in lymphomas with allelic loss, and whether the mutations we detected conferred any effect on cell proliferation and apoptosis.     

Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

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.     

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.     

Biology and Biomechanics in Osteosynthesis of Proximal Humerus Fractures

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.     

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.