Multistate Models Reveal Long-Term Trends of Northern Spotted Owls in the Absence of a Novel Competitor.

Quantifying spatial and temporal variability in population trends is a critical aspect of successful management of imperiled species. We evaluated territory occupancy dynamics of northern spotted owls (Strix occidentalis caurina), California, USA, 1990-2014. The study area possessed two unique aspects. First, timber management has occurred for over 100 years, resulting in dramatically different forest successional and structural conditions compared to other areas. Second, the barred owl (Strix varia), an exotic congener known to exert significant negative effects on spotted owls, has not colonized the study area. We used a Bayesian dynamic multistate model to evaluate if territory occupancy of reproductive spotted owls has declined as in other study areas. The state-space approach for dynamic multistate modeling imputes the number of territories for each nesting state and allows for the estimation of longer-term trends in occupied or reproductive territories from longitudinal studies. The multistate approach accounts for different detection probabilities by nesting state (to account for either inherent differences in detection or for the use of different survey methods for different occupancy states) and reduces bias in state assignment. Estimated linear trends in the number of reproductive territories suggested an average loss of approximately one half territory per year (-0.55, 90% CRI: -0.76, -0.33), in one management block and a loss of 0.15 per year (-0.15, 90% CRI: -0.24, -0.07), in another management block during the 25 year observation period. Estimated trends in the third management block were also negative, but substantial uncertainty existed in the estimate (-0.09, 90% CRI: -0.35, 0.17). Our results indicate that the number of territories occupied by northern spotted owl pairs remained relatively constant over a 25 year period (-0.07, 90% CRI: -0.20, 0.05; -0.01, 90% CRI: -0.19, 0.16; -0.16, 90% CRI: -0.40, 0.06). However, we cannot exclude small-to-moderate declines or increases in paired territory numbers due to uncertainty in our estimates. Collectively, we conclude spotted owl pair populations on this landscape managed for commercial timber production appear to be more stable and do not show sharp year-over-year declines seen in both managed and unmanaged landscapes with substantial barred owl colonization and persistence. Continued monitoring of reproductive territories can determine whether recent declines continue or whether trends reverse as they have on four previous occasions. Experimental investigations to evaluate changes to spotted owl occupancy dynamics when barred owl populations are reduced or removed entirely can confirm the generality of this conclusion.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

Adult care for Duchenne muscular dystrophy in the UK.

Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. We also compare the UK experience of adult care with the care available to pediatric patients and adults in other European countries (Germany, Denmark, Bulgaria, Czech Republic, Hungary, and Poland). UK adults experience less comprehensive care compared to children in their access to specialized clinics, frequency of cardiac and respiratory assessments, and access to professional physiotherapy. Access to the latter is especially poor when compared to other European adult cohorts. Although the total number of nights in hospital (planned and unplanned admissions) is lower among UK adults than elsewhere in Western Europe, social inclusion lags behind other Western European countries. We observe that attendance at specialized clinic is associated with more frequent cardiac and respiratory assessments among adults, in line with international best practice. Attendance at such clinics in the UK, though comparable to other countries, is still far from universal. With an increasing adult population living with DMD, and cardiac and respiratory failure the leading causes of death in this population, we suggest the need for an urgent improvement in adult access to specialized clinics and to consistent, comprehensive best practice care.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.