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Yosemite National Park (Yosemite) and the broader Sierra Nevada Mountains encompass elevational gradients and biodiversity patterns that can facilitate shifting species ranges and, therefore, accommodate conservation translocations (Singer, Papouchis, & Symonds, [22]; Powell I et al i ., [18]; Elsen, Monahan, & Merenlender, [8]; Joseph & Knapp, [13]). Conservation translocations - the release of individuals to reestablish, augment, or newly establish populations - are increasingly used to address the biodiversity crisis (Seddon, [21]; IUCN, [11]). In the animal conservation arena, broader research agendas that implement a more expansive approach can include examining institutional and sociocultural attitudes toward different conservation options as well as conducting pilot studies that test bold, on-the-ground conservation actions before implementing them at a larger scale. Safe harbor: translocating California red-legged frogs to a climate refuge in Yosemite National Park. [Extracted from the article]

Background and purpose: There is debate as to whether the apparent rebound after fingolimod discontinuation is related to the discontinuation itself or whether it is due to the natural course of highly active multiple sclerosis (MS). Our aim was to survey the prevalence of severe reactivation and rebound after discontinuation of fingolimod in a cohort of Italian patients with MS. Methods: Patients with relapsing–remitting MS who were treated with fingolimod for at least 6 months and who stopped treatment for reasons that were unrelated to inefficacy were included in the analysis. Results: A total of 100 patients who had discontinued fingolimod were included in the study. Fourteen patients (14%) had a relapse within 3 months after fingolimod discontinuation, and an additional 12 (12%) had a relapse within 6 months. According to this study's criteria, 10 patients (10%) had a severe reactivation. Amongst these patients, five (5%) had a reactivation that was considered to be a rebound. Conclusions: The present study showed that more than 26% of patients are at risk of having a relapse within 6 months after fingolimod discontinuation. Nevertheless, the risk of severe reactivations and rebound is lower than has been previously described. [ABSTRACT FROM AUTHOR]

Tonelli A, Romaniello R, Grasso R, Cavallini A, Righini A, Bresolin N, Borgatti R, Bassi MT. Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. Infantile neuroaxonal dystrophy, INAD, is a severe progressive psychomotor disorder with infantile onset and characterized by the presence of axonal spheroids throughout the central and peripheral nervous systems. A subset of INAD patients shows also brain iron accumulation which represents instead the distinctive feature of the idiopathic neurodegeneration with brain iron accumulation, NBIA. These diseases share the same causative gene, PLA2G6, encoding iPLA2-VIA, a calcium-independent phospholipase. Mutations that lead to a complete absence of protein are associated with a severe INAD profile, while compound heterozygous mutations with possibly a residual protein activity are instead associated with the less severe NBIA phenotype. Here we describe two INAD patients both with an unusually rapid disease progression and a peculiar neuroradiological presentation in one of them. Compound heterozygosity for a large intragenic deletion and a nonsense mutation was found in one of them while the other is carrying two novel splice-site mutations. Breakpoint-sequence analysis suggests a non-allelic-homologous-recombination (NAHR) event, probably underlying the rearrangement. These findings, while supporting the genotype-phenotype correlation already observed in INAD patients, provide the first sequence characterization of a genomic rearrangement in PLA2G6 gene, thus orienting the search for missing mutant alleles in PLA2G6 related diseases. [ABSTRACT FROM AUTHOR]

Objective: To compare introital ultrasound with colpocystodefecography (CCD) in quantifying the anorectal angle and in the diagnosis of posterior pelvic floor disorders. Methods: Forty-three consecutive women with functional impairment of the posterior pelvic floor were enrolled after a clinical evaluation. Using both CCD and introital ultrasound examination, the anorectal angle was measured during squeezing to evaluate the strength of voluntary muscle contraction and during straining to assess pelvic floor relaxation. Rectocele depth and the presence of intussusception were assessed. The performance of CCD and that of introital ultrasound were compared. Results: Good concordance was obtained between introital ultrasound and CCD. The intraclass correlation coefficient was 0.82 (95% CI, 0.69-0.89) for measurement of the anorectal angle during squeezing and 0.67 (95% CI, 0.47-0.81) during straining. Rectoceles > 4 cm on CCD were detected by introital ultrasound in 100% of cases, and there was 91% agreement for rectal intussusception. Cohen's kappa index was moderate for rectocele assessment (0.41, P < 0.01) and excellent for intussusception (0.91, P < 0.001). It was also noted that introital ultrasound could be used to detect pelvic floor dyssynergia. Conclusions: Introital ultrasound is a simple, accurate, non-invasive method with which to assess anorectal dynamics. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article concerning three-dimensional transperineal ultrasonography for evaluation of the anal sphincter complex.

We assessed WT1 expression (expressed as messenger copies/10(4) ABL1) from marrow cells of 122 patients with acute myeloid leukaemia (AML), before and after an unmanipulated allogeneic haemopoietic stem cell transplant (HSCT). The median age was 44 years (15-69), 59% were in first remission, 74% received a myeloablative conditioning regimen and the median follow up was 865 d (34-2833). Relapse was higher in 67 patients with WT1 expression, at any time post-HSCT, exceeding 100 copies (54%), as compared to 16%, for 55 patients with post-HSCT WT1 expression <100 copies (P < 0·0001). Similarly, actuarial 5-year survival (OS) was 40% vs. 63%, respectively (P = 0·03). In multivariate Cox analysis, WT1 expression post-HSCT was the strongest predictor of relapse (Hazard Ratio [HR] 4·5, P = 0·0001), independent of disease phase (HR 2·3, P = 0·002). Donor lymphocyte infusions (DLI) were given to 17 patients because of increasing WT1 levels: their OS was 44%, vs. 14% for 21 patients with increasing WT1 expression who did not receive DLI (P = 0·004). In conclusion, WT1 expression post-HSCT is a strong predictor of leukaemia relapse and survival in AML; WT1 may be used as a marker for early interventional therapy., (© 2013 Blackwell Publishing Ltd.)