Developmental profiles of infants with an FMR1 premutation

Abstract Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known. Methods This exploratory study examined the cognitive, communication, and social-behavioral profiles of 26 infants with a premutation who were identified through participation in a newborn screening for fragile X syndrome pilot study. In this study, families whose newborn screened positive for an FMR1 premutation were invited to participate in a longitudinal study of early development. Twenty-six infants with the premutation and 21 matched, screen-negative comparison babies were assessed using validated standardized measures at 6-month intervals starting as young as 3 months of age. The babies were assessed up to seven times over a 4-year period. Results The premutation group was not statistically different from the comparison group on measures of cognitive development, adaptive behavior, temperament, or overall communication. However, the babies with the premutation had a significantly different developmental trajectory on measures of nonverbal communication and hyperresponsivity to sensory experiences. They also were significantly more hyporesponsive at all ages than the comparison group. Cytosine-guanine-guanine repeat length was linearly associated with overall cognitive development. Conclusions These results suggest that infants with a premutation may present with subtle developmental differences as young as 12 months of age that may be early markers of later anxiety, social deficits, or other challenges thought to be experienced by a subset of carriers

The Effects of Blast Exposure on Protein Deimination in the Brain

Oxidative stress and calcium excitotoxicity are hallmarks of traumatic brain injury (TBI). While these early disruptions may be corrected over a relatively short period of time, long-lasting consequences of TBI including impaired cognition and mood imbalances can persist for years, even in the absence of any evidence of overt injury based on neuroimaging. This investigation examined the possibility that disordered protein deimination occurs as a result of TBI and may thus contribute to the long-term pathologies of TBI. Protein deimination is a calcium-activated, posttranslational modification implicated in the autoimmune diseases rheumatoid arthritis and multiple sclerosis, where aberrant deimination creates antigenic epitopes that elicit an autoimmune attack. The present study utilized proteomic analyses to show that blast TBI alters the deimination status of proteins in the porcine cerebral cortex. The affected proteins represent a small subset of the entire brain proteome and include glial fibrillary acidic protein and vimentin, proteins reported to be involved in autoimmune-based pathologies. The data also indicate that blast injury is associated with an increase in immunoglobulins in the brain, possibly representing autoantibodies directed against novel protein epitopes. These findings indicate that aberrant protein deimination is a biomarker for blast TBI and may therefore underlie chronic neuropathologies of head injury

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study

BACKGROUND: Delays in the diagnosis of children with fragile X syndrome (FXS) suggest the possibility of newborn screening as a way to identify children earlier. However, FXS does not have a proven treatment that must be provided early, and ethical concerns have been raised about the detection of infants who are carriers. This article summarizes major findings from a multisite, prospective, longitudinal pilot screening study. METHODS: Investigators in North Carolina, California, and Illinois collaborated on a study in which voluntary screening for FXS was offered to parents in 3 birthing hospitals. FXS newborn screening was offered to >28 000 families to assess public acceptance and determine whether identification of babies resulted in any measurable harms or adverse events. Secondary goals were to determine the prevalence of FMR1 carrier gene expansions, study the consent process, and describe early development and behavior of identified children. RESULTS: A number of publications have resulted from the project. This article summarizes 10 "lessons learned" about the consent process, reasons for accepting and declining screening, development and evaluation of a decision aid, prevalence of carriers, father participation in consent, family follow-up, and maternal reactions to screening. CONCLUSIONS: The project documented public acceptance of screening as well as the challenges inherent in obtaining consent in the hospital shortly after birth. Collectively, the study provides answers to a number of questions that now set the stage for a next generation of research to determine the benefits of earlier identification for children and families

Moving forward in circles: challenges and opportunities in modelling population cycles

Population cycling is a widespread phenomenon, observed across a multitude of taxa in both laboratory and natural conditions. Historically, the theory associated with population cycles was tightly linked to pairwise consumer–resource interactions and studied via deterministic models, but current empirical and theoretical research reveals a much richer basis for ecological cycles. Stochasticity and seasonality can modulate or create cyclic behaviour in non-intuitive ways, the high-dimensionality in ecological systems can profoundly influence cycling, and so can demographic structure and eco-evolutionary dynamics. An inclusive theory for population cycles, ranging from ecosystem-level to demographic modelling, grounded in observational or experimental data, is therefore necessary to better understand observed cyclical patterns. In turn, by gaining better insight into the drivers of population cycles, we can begin to understand the causes of cycle gain and loss, how biodiversity interacts with population cycling, and how to effectively manage wildly fluctuating populations, all of which are growing domains of ecological research

Utility of decision tools for assessing plant health risks from management strategies in natural environments

Increased imports of plants and timber through global trade networks provide frequent opportunities for the introduction of novel plant pathogens that can cross‐over from commercial to natural environments, threatening native species and ecosystem functioning. Prevention or management of such outbreaks relies on a diversity of cross‐sectoral stakeholders acting along the invasion pathway. Yet, guidelines are often only produced for a small number of stakeholders, missing opportunities to consider ways to control outbreaks in other parts of the pathway. We used the infection of common juniper with the invasive pathogen Phytophthora austrocedri as a case study to explore the utility of decision tools for managing outbreaks of plant pathogens in the wider environment. We invited stakeholders who manage or monitor juniper populations or supply plants or management advice to participate in a survey exploring their awareness of, and ability to use, an existing decision tree produced by a coalition of statutory agencies augmented with new distribution maps designed by the authors. Awareness of the decision tree was low across all stakeholder groups including those planting juniper for restoration purposes. Stakeholders requested that decision tools contain greater detail about environmental conditions that increase host vulnerability to the pathogen, and clearer examples of when management practices implicated in pathogen introduction or spread should not be adopted. The results demonstrate the need to set clear objectives for the purpose of decision tools and to frame and co‐produce them with many different stakeholders, including overlooked groups, such as growers and advisory agents, to improve management of pathogens in the wider environment

Ursinus College Alumni Journal, March 1960

President\u27s page • 1960 - A democratic president • Faith in the individual • Teachers are made • Alumni elections - watch for your ballot in April • On recruiting • Recent changes in the Education Department • Attention: Alumna at work • Lamond promoted • The liberal arts • An interview with Flora Rahn Lentz, Class of 1889 • Esso grant • Summer Assembly • Dr. Lentz is dead • Dr. Rice publishes new Swedish text • Dr. Stein resigns • Medical college award • Washington regional • Lehigh Valley regional • New York City regional • Philadelphia regional • South Jersey regional • Schuylkill Valley regional • Ursinus Women\u27s Club • Facts concerning the directory • Alumnae hockeyites honored • New football coach • Fall sports\u27 record • Wrestling results • Please help us • Basketball review • New look in track facilities • Track • Vanishing crafts and their craftsmen • January 1960: Mid year report of the Loyalty Fund campaign • 1960 Loyalty Fund campaign • Alvin Weiss: Man of the year • News about ourselves • Weddings • Births • Necrology • Alumni Day Saturday, June 4, 1960https://digitalcommons.ursinus.edu/alumnijournal/1068/thumbnail.jp

Nature-based solutions for climate change in the UK: a report by the British Ecological Society

Nature-based solutions (NbS) address societal problems in ways that benefit both people and nature. The main focus of this report is the joint role of NbS for addressing the climate and biodiversity crises we currently face. Natural habitats act as NbS for climate if they sequester carbon (contributing to Net Zero targets) or provide adaptation to climate change effects (for example, reducing flooding, protecting coastline against sea-level rise or creating cool spaces in cities). As well as these climate benefits, they can enhance biodiversity, create improved and more resilient ecosystem functioning, enhance human wellbeing and provide economic benefits, in terms of monetary value and job creation. Despite the huge range of benefits NbS have, they should be seen as complementary to other climate and conservation actions, not as a replacement to them. This Executive Summary provides five key themes which emerge across the report, across the multiple habitats and multiple NbS studied. Six ‘priority’ habitats for NbS are given at the end of the summary. However, we emphasise that all habitats covered in the report can act as NbS and all can play a role in addressing the climate and biodiversity crises