Paroxysmal eye–head movements in Glut1 deficiency syndrome

Objective:To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS).Methods:We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients.Results:A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually &lt;5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement.Conclusions:Paroxysmal eye–head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder.</jats:sec

A Sporozoite Asparagine-Rich Protein Controls Initiation of Plasmodium Liver Stage Development

Plasmodium sporozoites invade host hepatocytes and develop as liver stages (LS) before the onset of erythrocytic infection and malaria symptoms. LS are clinically silent, and constitute ideal targets for causal prophylactic drugs and vaccines. The molecular and cellular mechanisms underlying LS development remain poorly characterized. Here we describe a conserved Plasmodium asparagine-rich protein that is specifically expressed in sporozoites and liver stages. Gene disruption in Plasmodium berghei results in complete loss of sporozoite infectivity to rodents, due to early developmental arrest after invasion of hepatocytes. Mutant sporozoites productively invade host cells by forming a parasitophorous vacuole (PV), but subsequent remodelling of the membrane of the PV (PVM) is impaired as a consequence of dramatic down-regulation of genes encoding PVM-resident proteins. These early arrested mutants confer only limited protective immunity in immunized animals. Our results demonstrate the role of an asparagine-rich protein as a key regulator of Plasmodium sporozoite gene expression and LS development, and suggest a requirement of partial LS maturation to induce optimal protective immune responses against malaria pre-erythrocytic stages. These findings have important implications for the development of genetically attenuated parasites as a vaccine approach

Not a “Mom Thing”: Predictors of Gatekeeping in SameSex and Heterosexual Parent Families

The current study is the first to examine parental gatekeeping in both same-sex (57 female, 51 male) and heterosexual (n 82) couples, all of whom became parents via adoption. Aspects of the individual, the couple, and the work context, measured preadoption, were examined as predictors of gatekeeping. Gatekeeping refers to attitudes and behaviors aimed at regulating and limiting the involvement of the other parent in housework and child care and was measured 2 years postadoption. Findings revealed that women in heterosexual relationships reported higher gatekeeping compared with all other groups, and men in same-sex relationships reported higher gatekeeping compared with women in same-sex relationships and men in heterosexual relationships. Across the full sample, lower job autonomy predicted higher gatekeeping in both housework and child care, whereas greater relationship ambivalence, greater perceived parenting skill, and lower perceived partner parenting skill predicted higher gatekeeping in child care. Findings provide insight into how gatekeeping behaviors and beliefs are enacted in diverse types of couples and suggest that work factors should be taken into account when conducting research on, and seeking to improve, coparenting relationships

Needs Assessment of Suicide Prevention in Vermont Middle and High Schools

Introduction. Adolescent suicide is epidemic. 17% of high school students con- sidered suicide and 8% attempting to take their lives in 2015 nationwide. Vermont has seen a 2% increase within the last two years according to the VT Youth Risk Behavior Survey. School is one of several settings where effective suicide interventions could take place. Previous studies have identified means prevention as an effective way to combat adolescent suicide. This study aims to identify training levels and comfort of school staff in dealing with suicidality. Methods. A survey was emailed to all schools in Vermont covering grades 6-12. The survey addressed employee demographics, training, perception of suicide in their school, and concern regarding lethal means. Questions were multiple choice, scaled and free responses. Data was analyzed using SPSS and free responses were organized using thematic content analysis. Results. 126 responses represented 46% of Vermont middle and high schools. 77% agreed or strongly agreed that they felt confident in recognizing a student with suicidality. Respondents were not comfortable implementing lethal means prevention. Respondents identified early intervention and trusting communicative relationships as key to prevention, and identified lack of time, protocols, and resources as obstacles. Discussion. Respondents identified suicidality in 2.2% of their students, com- pared to the YRBS that recognized 12% of adolescents. Survey technique may con- tribute to this discrepancy, but it is also likely that schools are failing to identify students at risk. A lack of comfort recognizing suicidality and implementing prevention techniques warrants standardized training, screening and response protocols.https://scholarworks.uvm.edu/comphp_gallery/1265/thumbnail.jp

Do Physiological Integration and Soil Heterogeneity Influence the Clonal Growth and Foraging of Schoenoplectus pungens ?

Physiological integration and foraging behavior have both been proposed as advantages for clonal growth in heterogeneous environments. We tested three predictions concerning their short- and long-term effects on the growth of the clonal perennial sedge Schoenoplectus pungens (Pers.) Volk. ex Schinz and R. Keller: (1) growth would be greatest for clones with connected rhizomes and on heterogeneous soil, (2) clones would preferentially place biomass in the nutrient-rich patches of a spatially heterogeneous environment, and (3) physiological integration would decrease a clone’s ability to forage. We tested our predictions by growing S. pungens clones for 2 years in an experimental garden with two severing treatments (connected and severed rhizomes) crossed with two soil treatments (homogeneous and heterogeneous nutrient distribution). Severing treatments were only carried out in the first year. As predicted, severing significantly decreased total biomass and per capita growth rate in year one and individual ramet biomass both in year one and the year after severing stopped. This reduction in growth was most likely caused by severing damage, because the total biomass and growth rate in severed treatments did not vary with soil heterogeneity. Contrary to our prediction, total biomass and number of ramets were highest on homogeneous soil at the end of year two, regardless of severing treatment, possibly because ramets in heterogeneous treatments were initially planted in a nutrient-poor patch. Finally, as predicted, S. pungens concentrated ramets in the nutrient-rich patches of the heterogeneous soil treatment. This foraging behavior seemed enhanced by physiological integration in the first year, but any possible enhancement disappeared the year after severing stopped. It seems that over time, individual ramets become independent, and parent ramets respond independently to the conditions of their local microsite when producing offspring, a life-history pattern that may be the rule for clonal species with the spreading “guerrilla” growth form.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/43887/1/11258_2005_Article_2429.pd

A high-resolution record of early Paleozoic climate

The spatial coverage and temporal resolution of the Early Paleozoic paleoclimate record are limited, primarily due to the paucity of well-preserved skeletal material commonly used for oxygen-isotope paleothermometry. Bulk-rock δ¹⁸O datasets can provide broader coverage and higher resolution, but are prone to burial alteration. We assess the diagenetic character of two thick Cambro–Ordovician carbonate platforms with minimal to moderate burial by pairing clumped and bulk isotope analyses of micritic carbonates. Despite resetting of the clumped-isotope thermometer at both sites, our samples indicate relatively little change to their bulk δ¹⁸O due to low fluid exchange. Consequently, both sequences preserve temporal trends in δ¹⁸O. Motivated by this result, we compile a global suite of bulk rock δ¹⁸O data, stacking overlapping regional records to minimize diagenetic influences on overall trends. We find good agreement of bulk rock δ¹⁸O with brachiopod and conodont δ¹⁸O trends through time. Given evidence that the δ¹⁸O value of seawater has not evolved substantially through the Phanerozoic, we interpret this record as primarily reflecting changes in tropical, nearshore seawater temperatures and only moderately modified by diagenesis. Focusing on the samples with the most enriched, and thus likely least-altered, δ¹⁸O values, we reconstruct Late Cambrian warming, Early Ordovician extreme warmth, and cooling around the Early–Middle Ordovician boundary. Our record is consistent with models linking the Great Ordovician Biodiversification Event to cooling of previously very warm tropical oceans. In addition, our high-temporal-resolution record suggests previously unresolved transient warming and climate instability potentially associated with Late Ordovician tectonic events

Lifespan-Extending Caloric Restriction or mTOR Inhibition Impair Adaptive Immunity of Old Mice By Distinct Mechanisms

Aging of the world population and a concomitant increase in age-related diseases and disabilities mandates the search for strategies to increase healthspan, the length of time an individual lives healthy and productively. Due to the age-related decline of the immune system, infectious diseases remain among the top 5–10 causes of mortality and morbidity in the elderly, and improving immune function during aging remains an important aspect of healthspan extension. Calorie restriction (CR) and more recently rapamycin (rapa) feeding have both been used to extend lifespan in mice. Preciously few studies have actually investigated the impact of each of these interventions upon in vivo immune defense against relevant microbial challenge in old organisms. We tested how rapa and CR each impacted the immune system in adult and old mice. We report that each intervention differentially altered T-cell development in the thymus, peripheral T-cell maintenance, T-cell function and host survival after West Nile virus infection, inducing distinct but deleterious consequences to the aging immune system. We conclude that neither rapa feeding nor CR, in the current form/administration regimen, may be optimal strategies for extending healthy immune function and, with it, lifespan

A First Attempt to Bring Computational Biology into Advanced High School Biology Classrooms

Computer science has become ubiquitous in many areas of biological research, yet most high school and even college students are unaware of this. As a result, many college biology majors graduate without adequate computational skills for contemporary fields of biology. The absence of a computational element in secondary school biology classrooms is of growing concern to the computational biology community and biology teachers who would like to acquaint their students with updated approaches in the discipline. We present a first attempt to correct this absence by introducing a computational biology element to teach genetic evolution into advanced biology classes in two local high schools. Our primary goal was to show students how computation is used in biology and why a basic understanding of computation is necessary for research in many fields of biology. This curriculum is intended to be taught by a computational biologist who has worked with a high school advanced biology teacher to adapt the unit for his/her classroom, but a motivated high school teacher comfortable with mathematics and computing may be able to teach this alone. In this paper, we present our curriculum, which takes into consideration the constraints of the required curriculum, and discuss our experiences teaching it. We describe the successes and challenges we encountered while bringing this unit to high school students, discuss how we addressed these challenges, and make suggestions for future versions of this curriculum.We believe that our curriculum can be a valuable seed for further development of computational activities aimed at high school biology students. Further, our experiences may be of value to others teaching computational biology at this level. Our curriculum can be obtained at http://ecsite.cs.colorado.edu/?page_id=149#biology or by contacting the authors

Functional Capacity Assessed by the Map Task in Individuals at Clinical High-Risk for Psychosis

Recent studies have recognized that signs of functional disability in schizophrenia are evident in early phases of the disorder, and, as a result, can potentially serve as vulnerability markers of future illness. However, functional measures in the psychosis prodrome have focused exclusively on real-world achievements, rather than on the skills required to carry-out a particular real-world function (ie, capacity). Despite growing evidence that diminished capacity is critical to the etiology of the established disorder, virtually no attention has been directed towards assessing functional capacity in the pre-illness stages. In the present study, we introduce the Map task, a measure to assess functional capacity in adolescent and young-adult high-risk populations