An original defibrillation lead implantation to avoid tricuspid prosthesis damage

We report the case of a 67-year-old woman suffering from Ebstein's disease, who underwent three cardiac operations for bypass, tricuspid prosthesis and pacemaker implantation, and who needed an implantable cardioverter defibrillator for recurrent syncopes related to ventricular tachycardia. Because of the tricuspid prosthesis we chose to implant the defibrillation lead in the inferior vena cava. We collected satisfactory pacing and sensing data and performed a successful defibrillation test during the procedure. This configuration appears to be a safe alternative to conventional implantation in the coronary sinus, as already described in the literature for a few cases.

Fifty Years of Fertilization Experiments on Pinus pinaster in Southwest France: The Importance of Phosphorus as a Fertilizer

Data from 50 years of fertilization trials on Maritime pine (Pinus pinaster) were compiled to investigate how growth was affected by fertilization or improved nutrient availability. The results demonstrated that only trees fertilized with phosphorus (P) fertilizers showed an overall improvement in productivity. The effects were significant mainly at wetter sites and were less effective at drier sites. The form of P fertilizer does not seem to be important, and a rate of about 17-35 kg of P ha 1 applied as a single dose at stand establishment was found to be sufficient to obtain a significant improvement in growth. Foresters can expect an increase of 20-40% cumulative volume at rotation age or a reduction of 4-5 years in rotation length due to fertilization with P. The duration of the effect of P fertilization on the annual increment varied (up to 20 years after application in the best cases). The high P-fixing capacity of these soils appears to be the most important factor in explaining differential responsiveness to P fertilizers, but stand developmental stage or the appearance of other limitations such as nitrogen may also explain the decline in the effectiveness of P fertilization with age. FOR .S CI. 55(5): 390-402.

Methodology and Baseline Characteristics for the Sarcopenia and Hip Fracture Study: A 5-Year Prospective Study

Age-related hip fractures are associated with poor functional outcomes, resulting in substantial personal and societal burden. There is a need to better identify reversible etiologic predictors of suboptimal functional recovery in this group.

Recurrent and Injurious Falls in the Year Following Hip Fracture: A Prospective Study of Incidence and Risk Factors From the Sarcopenia and Hip Fracture Study

The incidence and etiology of falls in patients following hip fracture remains poorly understood.

Sialic acid feeding aged rats rejuvenates stimulated salivation and colon enteric neuron chemotypes

Old age is linked to numerous changes of body functions such as salivation, gastrointestinal motility, and permeability all linked to central and enteric nervous system decline. Thus, gut motility and barrier functions suffer. Sialic acid plays a key role in the nervous system at large and for many receptor functions specifically. Decreased sialylation in the elderly suggests an endogenous sialic acid deficit. We used a rat model of aging, to ask whether sialic acid feeding would affect (i) stimulated salivation, (ii) gut functions, and (iii) sialic acid levels and neuronal markers in brain and gut. We observed reduced levels of pilocarpine-stimulated salivation in old versus young rats and restored this function by sialic acid feeding. Brain ganglioside bound sialic acid levels were found lower in aged versus young rats, and sialic acid feeding partly restored the levels. The hypothalamic expression of cholinergic and panneuronal markers was reduced in aged rats. The expression of the nitrergic marker nNOS was increased upon sialic acid feeding in aged rats. Neither fecal output nor gut permeability was different between young and aged rats studied here, and sialic acid feeding did not alter these parameters. However, the colonic expression of specific nervous system markers nNOS and Uchl1 and the key enzyme for sialic acid synthesis GNE were differentially affected in young and aged rats by sialic acid feeding indicating that regulatory mechanisms change with age. Investigation of sialic acid supplementation as a functional nutrient in the elderly may help those who suffer from disorders of reduced salivation. Further research is needed to understand the differential effects of sialic acid feeding in young and aged rats.

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder which displays considerable inter- and intra-familial variability in phenotypic expression. To evaluate the genetic component of variable expressivity in NF1, we examined the phenotypic correlations between affected relatives in 750 NF1 patients from 275 multiplex families collected through the NF-France Network. Twelve NF1-related clinical features, including five quantitative traits (number of café-au-lait spots of small size and of large size, and number of cutaneous, subcutaneous and plexiform neurofibromas) and seven binary ones, were scored. All clinical features studied, with the exception of neoplasms, showed significant familial aggregation after adjusting for age and sex. For most of them, patterns of familial correlations indicated a strong genetic component with no apparent influence of the constitutional NF1 mutation. Heritability estimates of the five quantitative traits ranged from 0.26 to 0.62. Moreover, we investigated for the first time the role of the normal NF1 allele in the variable expression of NF1 through a family-based association study. Nine tag SNPs in NF1 were genotyped in 1132 individuals from 313 NF1 families. No significant deviations of transmission of any of the NF1 variants to affected offspring was found for any of the 12 clinical features examined, based on single marker or haplotype analysis. Taken together, our results provided evidence that genetic modifiers, unlinked to the NF1 locus, contribute to the variable expressivity of the disease.

Natural mutations of the anti-Müllerian hormone type II receptor found in persistent Müllerian duct syndrome affect ligand binding, signal transduction and cellular transport

The anti-Müllerian hormone type II (AMHRII) receptor is the primary receptor for anti-Müllerian hormone (AMH), a protein produced by Sertoli cells and responsible for the regression of the Müllerian duct in males. AMHRII is a membrane protein containing an N-terminal extracellular domain (ECD) that binds AMH, a transmembrane domain, and an intracellular domain with serine/threonine kinase activity. Mutations in the AMHRII gene lead to persistent Müllerian duct syndrome in human males. In this paper, we have investigated the effects of 10 AMHRII mutations, namely 4 mutations in the ECD and 6 in the intracellular domain. Molecular models of the extra- and intracellular domains are presented and provide insight into how the structure and function of eight of the mutant receptors, which are still expressed at the cell surface, are affected by their mutations. Interestingly, two soluble receptors truncated upstream of the transmembrane domain are not secreted, unless the transforming growth factor beta type II receptor signal sequence is substituted for the endogenous one. This shows that the AMHRII signal sequence is defective and suggests that AMHRII uses its transmembrane domain instead of its signal sequence to translocate to the endoplasmic reticulum, a characteristic of type III membrane proteins.

Common variants in LSP1 , 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased breast cancer risks in the general population. In a previous study, we demonstrated that the minor alleles at three of these SNPs, in FGFR2, TNRC9 and MAP3K1 , also confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 at LSP1 , rs13387042 at 2q35 and rs13281615 at 8q24 have since been reported to be associated with breast cancer in the general population, and in this study we evaluated their association with breast cancer risk in 9442 BRCA1 and 5665 BRCA2 mutation carriers from 33 study centres. The minor allele of rs3817198 was associated with increased breast cancer risk only for BRCA2 mutation carriers [hazard ratio (HR) = 1.16, 95% CI: 1.07–1.25, P -trend = 2.8 × 10 −4 ]. The best fit for the association of SNP rs13387042 at 2q35 with breast cancer risk was a dominant model for both BRCA1 and BRCA2 mutation carriers ( BRCA1 : HR = 1.14, 95% CI: 1.04–1.25, P = 0.0047; BRCA2 : HR = 1.18 95% CI: 1.04–1.33, P = 0.0079). SNP rs13281615 at 8q24 was not associated with breast cancer for either BRCA1 or BRCA2 mutation carriers, but the estimated association for BRCA2 mutation carriers (per-allele HR = 1.06, 95% CI: 0.98–1.14) was consistent with odds ratio estimates derived from population-based case–control studies. The LSP1 and 2q35 SNPs appear to interact multiplicatively on breast cancer risk for BRCA2 mutation carriers. There was no evidence that the associations vary by mutation type depending on whether the mutated protein is predicted to be stable or not.

IVF outcome in patients with orthotopically transplanted ovarian tissue

Chemo- or radiotherapy can induce premature ovarian failure (POF), and ovarian tissue cryopreservation and transplantation may be proposed to restore ovarian function. Our aim was to evaluate the quality of oocytes and embryos derived from frozen-thawed transplanted ovarian tissue.

Session 42: ART, clinical: Outcome 2