Time filter

Source Type

Boston, MA, United States

Briggs C.E.,Program in Genomics | Guo C.-Y.,Program in Genomics | Guo C.-Y.,Clinical Research Program | Schoettler C.,HU 353 | And 6 more authors.
European Journal of Human Genetics | Year: 2010

The basis for vesicoureteral reflux (VUR) is considered to be primarily genetic, with a 30-50% incidence of VUR in first-degree relatives of patients. The search for the causative gene or genes has been elusive, likely because of VUR being genetically heterogeneous with complex inheritance patterns. In this study, a genome-wide analysis of VUR with high-density single nucleotide polymorphisms was conducted with the aim of identifying susceptibility loci for VUR in 98 families with two or more affected children. Using the affected sib-pair method of analysis in 150 sib-pairs, we identified a genome-wide statistically significant linkage peak with an LOD score greater than 4 on chromosome 5 and two linkage peaks with LOD scores greater than 3.6 on chromosomes 13 and 18 were identified in these 98 families. These results suggested that multiple genes are likely to contribute to the formation of VUR phenotype. Further mapping of these linkage peaks may help identify the causative genes. © 2010 Macmillan Publishers Limited All rights reserved. Source

Nguyen H.T.,HU 353 | Sencan A.,HU 353 | Silva A.,HU 353 | Carvas F.A.,HU 353 | Bauer S.B.,HU 353
Journal of Urology | Year: 2010

Purpose: Neurogenic bladder dysfunction is a frequent occurrence in association with neoplasms involving the central nervous system. We determine whether tumor location in children with central nervous system neoplasms correlates with specific patterns of urodynamic abnormalities, alleviating the need for urodynamic investigations in these patients. Materials and Methods: A total of 62 children with the diagnosis of a central nervous system neoplasm underwent urodynamic investigation after treatment between 1994 and 2004. Patient demographics, tumor location and etiology were assessed. Urodynamic variables recorded included bladder capacity, early and late compliance, voiding pressure and post-void residual volume. For comparative analysis patients were grouped according to central nervous system level of involvement. Statistical analysis was performed, with p <0.05 considered significant. Results: Mean ± SD patient age at urodynamic evaluation was 10.6 ± 7 years. Tumor was located intracranially in 21% of patients and in the spinal cord in 79% (cervical/thoracic in 27%, lumbar in 27%, sacral in 47%). There was no correlation between tumor location and any specific bladder dynamic parameter (p >0.05). Similarly there were no significant differences in urodynamic findings in patients with intracranial vs extracranial tumors, or in those with sacral vs suprasacral involvement. Conclusions: Abnormalities in urodynamic parameters in children with a central nervous system tumor cannot be predicted based on the location of tumor involvement. Therefore, urodynamic evaluation is appropriate in all patients with neoplastic involvement of the central nervous system, regardless of the tumor location, for best management of lower urinary tract function. © 2010 American Urological Association Education and Research, Inc. Source

Discover hidden collaborations