A Novel BMPR2 Mutation Associated with Pulmonary Arterial Hypertension in an Octogenarian

We describe the case of an 83-year-old man with a family history of pulmonary hypertension (PH) who presented with severe pulmonary arterial hypertension (PAH) and later tested positive for a novel bone morphogenetic protein receptor 2 (BMPR2) gene mutation. To our knowledge, this may be the oldest reported patient with PAH in whom a BMPR2 mutation was initially identified

Genome-Wide Effects of Long-Term Divergent Selection

To understand the genetic mechanisms leading to phenotypic differentiation, it is important to identify genomic regions under selection. We scanned the genome of two chicken lines from a single trait selection experiment, where 50 generations of selection have resulted in a 9-fold difference in body weight. Analyses of nearly 60,000 SNP markers showed that the effects of selection on the genome are dramatic. The lines were fixed for alternative alleles in more than 50 regions as a result of selection. Another 10 regions displayed strong evidence for ongoing differentiation during the last 10 generations. Many more regions across the genome showed large differences in allele frequency between the lines, indicating that the phenotypic evolution in the lines in 50 generations is the result of an exploitation of standing genetic variation at 100s of loci across the genome

Characterization of selection effects on broiler lines using DNA fingerprinting

The objective of this study was to evaluate the effect of selection for body weight on the genetic variability and diversity in broiler lines. Two paternal broiler lines (LL and LLc) were used. LL line was selected for 12 generations for growth and carcass and reproduction characteristics. The LLc line was established from LL line in 1985 and mated at random. Blood samples from six chickens per line were collected and used for molecular analysis. Also, a DNA pool was made for each line to compare effects between lines. Data were analyzed considering the collected information on the presence or absence of DNA bands. Band sharing scores were calculated using the DICE coefficient. The pattern of the 21 most representative bands was used. DNA fingerprinting (DFP) showed 90.48 % of polymorphism bands for both lines. Difference between lines was not due to the presence or absence of bands, but to the frequency of such bands in each genotype. Considering that both lines had the same genetic background, changes on band frequency were probably due to selection. Selection for body weight had an effect on the band frequency as evaluated by DFP, and for this reason this technique could be used as a tool in the selection process. Results also suggest that bands 4, 5 and 19 were linked to body weight traits, and bands 9, 10, 12, 13 and 21 were linked to reproductive traits such as egg production

Surgical revision of dysfunctional filtration blebs with bleb preservation, sliding conjunctival flap and fibrin glue

Purpose The introduction of anti-metabolite regimens to glaucoma filtration surgery has improved post-operative intraocular pressure (IOP) control; however, it has also increased the frequency of dysfunctional blebs. In this study, we report a surgical technique for the repair of trabeculectomy blebs using bleb preservation, a sliding conjunctival flap, and fibrin glue.Methods This study is a retrospective, non-comparative, consecutive case series involving 10 eye samples collected from 10 patients (6 M: 4 F) with one or a combination of bleb overfiltration, dysesthesia, thinning, leak, or blebitis, in which a conjunctival flap was advanced over the failing bleb and secured in place using fibrin glue and sutures.Results All patient eyes had symptom resolution post-operatively. There were no bleb leaks or hypotonous eyes after an average follow-up of 15.2 months (range: 6-31 months). Three patients required needling augmented with 5-fluorouracil needling to maintain IOP control. IOP decreased from a mean of 13.61.8 mm Hg (with a mean of 0.7 glaucoma medications) pre-operatively to 11.70.9 mm Hg (with a mean of 0.9 glaucoma medications).Conclusion Conjunctival flap advancement with bleb preservation and adjunctive fibrin glue is a successful technique used for the treatment of bleb dysfunction. The major advantages compared with other techniques are preservation of IOP control and reduced post-operative complications, such as wound leak and the need for re-suturing