White Pine Blister Rust Distribution in New Hampshire 1900-2018: Exploring the Impacts of an Exotic Pathogen on Forest Composition and Succession

White pine blister rust (WPBR) has been affecting New Hampshire’s white pines for more than a century, yet no data exist on the long-term effects of the non-native disease on the state’s forests, particularly with respect to the regeneration and sustainability of white pine, and forest succession. This study aimed to address the gaps in the literature by exploring: 1) the current distribution, incidence, and severity of WPBR in New Hampshire; 2) the application of two historical hazard ratings models, one climatic, and one biotic; and 3) the long-term effects of the disease on forest composition, structure, and succession. Historical blister rust maps were used to select research sites for a comparison between pine stands that had blister rust, and pine stands that were infection-free when mapped (1929-1976) by the NH Blister Rust Control Program. One hundred sites in 50 towns were revisited in the spring of 2018. This research included the development and application of: 1) a WPBR canker severity index for white pine; 2) a disease-disturbance model for WPBR; and 3) a forest succession trajectory for forests disturbed by WPBR. Results suggested that 1) WPBR incidence had increased since a 1998 statewide study; 2) native Ribes populations were well-distributed throughout the state; 3) Ribes that infected white pines were less likely to be within the historical 300-yard protection zone; 4) the historical hazard models were outdated, particularly in relation to New Hampshire’s climate; and 5) WPBR can aid natural successional processes to influence forest structure and succession. This research connected historical data with the present to improve our understanding of the relationship between WPBR and forest succession in a changing climate. During this process, several knowledge gaps were identified for future research

How Do We Build Community Resilience to Disasters in a Changing Climate? A review of interventions to improve and measure public health outcomes in the Northeastern United States

Climate change-related natural disasters, including wildfires and extreme weather events, such as intense storms, floods, and heatwaves, are increasing in frequency and intensity. These events are already profoundly affecting human health in the Northeastern United States and globally, challenging the ability of communities to prepare, respond, and recover. This paper examines the peer-reviewed literature on community resilience interventions and metrics that may apply to the Northeastern region of the United States. The overarching goal of this document is to inform local public health practitioners and planners about the availability of evidence-based strategies to strengthen and measure community resilience to climate change-related disasters. We were interested in metrics that were derived from publicly available data sources and that were developed for use by communities at a local scale, and accessible to more modestly resourced municipalities and county health agencies. We searched the literature for papers describing the strategies employed to increase community resilience and the metrics used to measure resilience as an outcome of those strategies. Specifically, we looked for those strategies or interventions that aimed to meet the U.S. Centers for Disease Control’s standards for building community resilience as part of reaching the United States’ National Preparedness Goal. Our search revealed 205 articles on community resilience in the Northeast: of those, five described evidence-based strategies. This paper discusses the five selected strategies, their applicability at a local public health level, and the metrics used to measure the extent to which community resilience had been strengthened. The paper shares two relevant case studies: 1) in Los Angeles County, to demonstrate the use of metrics in a multi-year community resilience intervention; and 2) in New Hampshire, to show how an intervention emerged through the development of a climate and health adaptation plan. We recommend the COAST project, COPEWELL Rubric for self-assessment, and Ready CDC intervention as examples of strategies that could be adapted by any community engaged in building community resilience

Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients

BACKGROUND: More than 85% of Rett syndrome (RTT) patients have heterozygous mutations in the X-linked MECP2 gene which encodes methyl-CpG-binding protein 2, a transcriptional repressor that binds methylated CpG sites. Because MECP2 is subject to X chromosome inactivation (XCI), girls with RTT express either the wild type or mutant MECP2 in each of their cells. To test the hypothesis that MECP2 mutations result in genome-wide transcriptional deregulation and identify its target genes in a system that circumvents the functional mosaicism resulting from XCI, we performed gene expression profiling of pure populations of untransformed T-lymphocytes that express either a mutant or a wild-type allele. METHODS: Single T lymphocytes from a patient with a c.473C>T (p.T158M) mutation and one with a c.1308-1309delTC mutation were subcloned and subjected to short term culture. Gene expression profiles of wild-type and mutant clones were compared by oligonucleotide expression microarray analysis. RESULTS: Expression profiling yielded 44 upregulated genes and 77 downregulated genes. We compared this gene list with expression profiles of independent microarray experiments in cells and tissues of RTT patients and mouse models with Mecp2 mutations. These comparisons identified a candidate MeCP2 target gene, SPOCK1, downregulated in two independent microarray experiments, but its expression was not altered by quantitative RT-PCR analysis on brain tissues from a RTT mouse model. CONCLUSION: Initial expression profiling from T-cell clones of RTT patients identified a list of potential MeCP2 target genes. Further detailed analysis and comparison to independent microarray experiments did not confirm significantly altered expression of most candidate genes. These results are consistent with other reported data

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Purpose: This study aimed to delineate the genetic basis of congenital ocular motor apraxia (COMA) in patients not otherwise classifiable. Methods: We compiled clinical and neuroimaging data of individuals from six unrelated families with distinct clinical features of COMA who do not share common diagnostic characteristics of Joubert syndrome or other known genetic conditions associated with COMA. We used exome sequencing to identify pathogenic variants and functional studies in patient-derived fibroblasts. Results: In 15 individuals, we detected familial as well as de novo heterozygous truncating causative variants in the Suppressor of Fused (SUFU) gene, a negative regulator of the Hedgehog (HH) signaling pathway. Functional studies showed no differences in cilia occurrence, morphology, or localization of ciliary proteins, such as smoothened. However, analysis of expression of HH signaling target genes detected a significant increase in the general signaling activity in COMA patient-derived fibroblasts compared with control cells. We observed higher basal HH signaling activity resulting in increased basal expression levels of GLI1, GLI2, GLI3, and Patched1. Neuroimaging revealed subtle cerebellar changes, but no full-blown molar tooth sign. Conclusion: Taken together, our data imply that the clinical phenotype associated with heterozygous truncating germline variants in SUFU is a forme fruste of Joubert syndrome