Congenital Ureteral Ectopia in Continent and Incontinent-Related Entlebucher Mountain Dogs: 13 Cases (2006–2009)

Ectopic ureters (EUs) associated with varying combinations of urinary incontinence, hydronephrosis, and urinary tract infection have been identified in related North American Entlebucher Mountain Dogs.To characterize the disease phenotype in affected dogs and evaluate possible modes of inheritance.Twenty client-owned Entlebucher Mountain Dogs. Nine dogs had clinical signs of urinary tract disease.Prospective case series in which 17 dogs were evaluated with excretory urography, ultrasonography, and urethrocystoscopy. Three additional dogs were evaluated by necropsy alone. Clinical and pedigree histories from 165 North American Entlebuchers were compiled for analysis.Eleven female and 2 male dogs were found to have EUs. Six females and 1 male were continent. Bilateral intravesicular ectopic ureters (IVEUs) were identified in 9 dogs, bilateral extravesicular ectopic ureters (EVEUs) in 3 dogs, and 1 dog had IVEU and EVEU. Hydronephrosis was identified in 5 dogs, 3 of which had bilateral IVEUs. Two necropsied dogs had bilateral hydronephrosis with presumed ureterovesical junction obstruction associated with chronic granulation tissue or lymphoplasmacytic inflammation. Twenty-six dogs with EUs were identified in the pedigree. Because of incomplete penetrance, mode of inheritance could not be determined.Ureteral ectopia is common in North American Entlebucher Mountain Dogs and clinical signs alone could not reliably predict disease phenotype. EVEUs were associated with urinary incontinence and occasionally hydronephrosis. IVEUs were clinically silent or associated with hydronephrosis. Further analyses are necessary to confirm and characterize the hereditary nature of the disorder.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/79070/1/j.1939-1676.2010.0562.x.pd

Charcot-Marie-Tooth Disease: Seventeen Causative Genes

Charcot-Marie-Tooth disease (CMT) is the most common form of inherited motor and sensory neuropathy. Moreover, CMT is a genetically heterogeneous disorder of the peripheral nervous system, with many genes identified as CMT-causative. CMT has two usual classifications: type 1, the demyelinating form (CMT1); and type 2, the axonal form (CMT2). In addition, patients are classified as CMTX if they have an X-linked inheritance pattern and CMT4 if the inheritance pattern is autosomal recessive. A large amount of new information on the genetic causes of CMT has become available, and mutations causing it have been associated with more than 17 different genes and 25 chromosomal loci. Advances in our understanding of the molecular basis of CMT have revealed an enormous diversity in genetic mechanisms, despite a clinical entity that is relatively uniform in presentation. In addition, recent encouraging studies - shown in CMT1A animal models - concerning the therapeutic effects of certain chemicals have been published; these suggest potential therapies for the most common form of CMT, CMT1A. This review focuses on the inherited motor and sensory neuropathy subgroup for which there has been an explosion of new molecular genetic information over the past decade

X-linked neuropathy: Gene localization with DNA probes

We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in four families with X‐linked neuropathy. Despite clinical variability, all four families showed the same linkage pattern. We found evidence in each family of linkage to the marker DXYS1 on the proximal long arm of the X chromosome, as reported by others. We also found linkage to p58—1 (DXS14) on the proximal short arm. We found only loose linkage or nonlinkage to nine other markers located elsewhere on the chromosome. Our analysis places the gene defect for this disorder in the region of DXYS1 and p58—1, near the centromere of the X chromosome

Developing a Plastic Recycling Economy

This project developed the framework for developing a local plastic recycling economy in Akyem Dwenase, Ghana. The current form of waste disposal - burning plastics - negatively impacts the environment and personal health. The proposed system would recycle plastic, and these returns would be granted on an individual and communal level to support various needs such as education, healthcare, and infrastructure. By combining a co-design approach with local leaders and interviews with community members, incentives were identified and added to the model to reinforce participation and sustainability. The included manual walks through the recycling process and provides options for future implementation