Clinical phenotypes in individuals with a supernumerary marker chromosome (SMC) are mainly caused by gene dosage effects due to the genes located on the SMC. An additional effect may result from uniparental disomy (UPD). Consequently, the occurrence of UPD may be a confounding factor in identifying genotype-phenotype correlations in SMC syndromes. Here, we report on a patient that illustrates this problem; the phenotype of this patient was a consequence of a combined effect of gene dosage and UPD. The proband showed facial dysmorphisms, growth retardation and developmental delay. G-band karyotype of the proband's peripheral blood showed the presence of mosaic SMC. A SNP array analysis documented maternal UPD20 and 20p duplication. It is known that maternal UPD20 causes prenatal onset growth retardation and feeding difficulties. By contrast, duplication of 20p causes facial dysmorphisms, micrognathia, cleft palate, developmental delay and vertebral anomalies. Our classification of the proband's phenotype showed a mixture of these two effects. Therefore, we suggest the routine use of genome-wide SNP array towards the detailed genotype-phenotype correlations for SMC syndromes.

By lengthening the nerve to the muscle, the gracilis can be used for anal sphincter reconstruction with pudendal nerve anastomosis, negating the need for an electrical device. By detaching the origin of the gracilis muscle, its proximal portion can be used to wrap the anal canal, possibly enabling a longer functional canal with stronger constricting force and better vascularity. These modifications to past methods may improve fecal continence after the operation.

Introduction: The use of artificial urinary sphincters can improve urinary incontinence after radical prostatectomies; however, complications can arise. We hypothesized that dynamic graciloplasty improves urethral sphincter reconstruction. Materials and Methods: Models of urethral sphincter muscle reconstruction were developed in 5 adult rabbits by wrapping the gracilis muscle flap around the urethra. Intra-urethral pressure was measured in each of the models before reconstruction (control), after reconstruction, and after electrical stimulation of the flap in reconstructed models (stimulated models). Results: The mean maximum urethral closure pressure was significantly greater in the reconstruction model (69.7 (66.5-115.8) mm Hg) than in the control model (39.2 (33.7-49.6) mm Hg). The mean integral of the urethral pressure and urethral length was also significantly greater in the reconstruction model than in the control model. Furthermore, sphincter tightening was enhanced by the electrical stimulation of the flap. Conclusions: Our results support our hypothesis that the functional reconstruction of urethral sphincters using muscle flaps is promising for the treatment of urinary incontinence.

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Purpose: This cross-sectional study aimed at evaluating the healthrelated quality of life (QOL) of Japanese patients with lymphedema. Methods:A cross-sectional, descriptive study was conducted. Twenty-seven patients with lymphedema of the upper or lower limb(s) who presented the two institutions between January and December 2010 completed the Short Form 36 (SF-36: a generic health-related QOL measure).Results: All components and summary scores of the generic health-related QOL reported by the patients were statistically worse than that of the Japanese norms. The patients with symptom duration of longer than 1 year, who underwent radiation therapy, or those undergoing chemotherapy reported significantly lower QOL. Conclusion:Lymphedema significantly deteriorates the QOL of the patients. Further evaluation with longitudinal design, increased number of cases and disease-specific QOL scale is warranted to better understand the QOL of the patients.