ABSTRACT
BACKGROUND: Bladder diverticula are protrusions of the mucosal and submucosal layers of the bladder through the muscular wall of the bladder. We discuss the identification and management of two unusual presentations of bladder diverticula. CASE: In two cases of bladder diverticula, one presented as pelvic organ prolapse and the other largely replaced the anterior cervix and was incidentally encountered during a loop electrosurgical excision procedure. Both were discovered intraoperatively and repaired surgically. CONCLUSION: Alternatives to pelvic organ prolapse must be in the differential diagnosis when evaluating a patient with complaints of vaginal bulging.
Subject(s)
Diverticulum/diagnosis , Urinary Bladder Diseases/diagnosis , Aged , Diverticulum/surgery , Electrosurgery/methods , Female , Humans , Middle Aged , Treatment Outcome , Urinary Bladder Diseases/surgeryABSTRACT
We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
Subject(s)
Blindness/diagnosis , Fetal Diseases/diagnosis , Prenatal Diagnosis/methods , Blindness/genetics , Chromosome Mapping , DNA/genetics , DNA Probes , Female , Fetal Diseases/genetics , Genetic Linkage , Genetic Markers , Genetic Testing/methods , Humans , Male , Pedigree , PregnancyABSTRACT
Intragenic RFLP analysis was used to provide carrier risk estimations on 100 possible female carriers from 22 Duchenne muscular dystrophy families. This enabled 78% of possible carriers to be assigned high or low risks (greater than 90% or less than 10%) as opposed to 26% assigned low risk on pedigree data alone. When a single polymorphism is not informative the use of haplotype analysis for carrier estimations is illustrated for one family.
Subject(s)
Genetic Carrier Screening , Muscular Dystrophies/genetics , Computers , Female , Haplotypes , Humans , Male , Muscular Dystrophies/epidemiology , Northern Ireland , Pedigree , Polymorphism, Restriction Fragment Length , RiskABSTRACT
Linkage disequilibrium and cystic fibrosis (CF) allele segregation were analysed in 46 CF families in Northern Ireland. The smaller (+) allele of the KM19/PstI polymorphism and the larger (-) allele of the XV-2c/TaqI polymorphism showed marked linkage disequilibrium with CF. This information can be used to alter the risk of an individual being a carrier of CF away from the expected population risk of 1 in 20. The high-risk genotypes K+K+ or X-X- have a risk of 1 in 10 and the low-risk genotypes K-K- or X+X+ have a risk of 1 in 50. A study of the segregation of CF alleles in the 46 families, using KM19 and Xv-2c, showed preferential inheritance of the paternal (79%), as opposed to the maternal (21%), CF allele by the heterozygous carriers. A mechanism that might explain this observation is discussed.
