ABSTRACT
Dissolved inorganic nutrient concentrations in the surface waters (0 to 5 m) of the Northern Gulf of Mexico (NGoM) were analyzed from 1985 to 2019 (> 10,000 observations) to determine spatiotemporal trends and their connection to nutrients supplied from the Mississippi/Atchafalaya River (MAR). In the NGoM, annual mean dissolved inorganic P (DIP) concentrations increased significantly over time, while dissolved inorganic N (DIN) concentrations showed no temporal trend. With greater salinity, mean DIN:DIP decreased from above the Redfield ratio of 16 to below it, reflecting DIN losses and the more conservative behavior of DIP with salinity. Over the same time period, annual mean P (total dissolved P, DIP, dissolved organic P) loading from the MAR to the NGoM significantly increased, annual mean DIN and total dissolved N loading showed no temporal trend, and dissolved organic N loading significantly decreased. Though DIP increased in the MAR, MAR DIP alone was insufficient to explain the surface distribution of DIP with salinity. Therefore, increases in surface DIP in the NGoM are not simply a reflection of increasing MAR DIP, pointing to temporal changes in other DIP sources. The increase in NGoM DIP suggests greater N limitation for phytoplankton, with implications for N fixation and nutrient management.
ABSTRACT
Predicting water quality and the human health risks associated with sewage-derived microbes requires understanding the fate and transport of these contaminants. Sewage-derived pathogen risks are typically assessed and monitored by measuring concentrations of fecal indicating bacteria (FIB), like Enterococcus sp. Previous research demonstrated that a high fraction of FIB is particle-associated, which can alter FIB dynamics within secondary water bodies. In this study, we experimentally quantified the effect of particle association on dark, temperature- and light-dependent growth and sinking rates of enterococci. Particle association significantly increased dark growth rates, light-dependent growth rates (i.e. decreased mortality), and sinking rates, relative to free-living enterococci. Simulations using a novel, 1-dimensional model parameterized by these rates indicate greater persistence (T90) for particle-associated enterococci in water bodies across a wide range of diffuse attenuation coefficients of light (Kd) and turbulent diffusivity (D) values. In addition, persistence of both fractions increased in simulated turbid and turbulent waters, compared to clear and/or quiescent conditions. Simulated persistence of both fractions also increased when enterococci discharges occurred later in a diel cycle (towards sunset, as opposed to sunrise), especially for the free-living population, because later discharges under our model conditions allowed both fractions to mix deeper before inactivation via sunlight. Model sensitivity testing revealed that T90 variability was greatest when dark growth rates were altered, suggesting that future empirical studies should focus on quantifying these rates for free-living and particle-associated sewage-derived microbes. Despite greater sensitivity of T90 to variability in dark growth rates, omitting light-dependent growth rates from simulations dramatically influenced T90 values. Our results demonstrate that particle association can increase enterococci persistence in receiving waters and highlight the importance of incorporating particle association in future water quality models.
Subject(s)
Enterococcus , Escherichia coli , Feces , Humans , Sewage , Water Microbiology , Water QualityABSTRACT
Estuarine and coastal waterways are commonly monitored for fecal and sewage contamination to protect recreator health and ecosystem functions. Such monitoring programs commonly rely on cultivation-based counts of fecal indicator bacteria (FIB) in water column samples. Recent studies demonstrate that sediments and beach sands can be heavily colonized by FIB, and that settling and resuspension of colonized particles may significantly influence the distribution of FIB in the water column. However, measurements of sediment FIB are rarely incorporated into monitoring programs, and geographic surveys of sediment FIB are uncommon. In this study, the distribution of FIB and the extent of benthic-pelagic FIB coupling were examined in the urbanized, lower Hudson River Estuary. Using cultivation-based enumeration, two commonly-measured FIB, enterococci and Escherichia coli, were widely distributed in both sediment and water, and were positively correlated with each other. The taxonomic identity of FIB isolates from water and sediment was confirmed by DNA sequencing. The geometric mean of FIB concentration in sediment was correlated with both the geometric mean of FIB in water samples from the same locations and with sediment organic carbon. These two positive associations likely reflect water as the FIB source for underlying sediments, and longer FIB persistence in the sediments compared to the water, respectively. The relative representation of other fecal associated bacterial genera in sediment, determined by 16S rRNA gene sequencing, increased with the sequence representation of the two FIB, supporting the value of these FIB for assessing sediment contamination. Experimental resuspension of sediment increased shoreline water column FIB concentrations, which may explain why shoreline water samples had higher average FIB concentrations than samples collected nearby but further from shore. In combination, these results demonstrate extensive benthic-pelagic coupling of FIB in an urbanized estuary and highlight the importance of sediment FIB distribution and ecology when interpreting water quality monitoring data.
Subject(s)
Bacteria/isolation & purification , Feces/microbiology , Geologic Sediments/microbiology , Water Microbiology , Water Quality , Bathing Beaches , Cities , Estuaries , New YorkABSTRACT
The widespread use of pharmaceuticals by human populations results in their sustained discharge to surface waters via wastewater treatment plants (WWTPs). In this study, 16 highly prescribed pharmaceuticals were quantified along a 250â¯km transect of the Hudson River Estuary and New York Harbor to describe their sources and spatial patterns. Sampling was conducted over two dry weather periods in May and July 2016, at 72 sites which included mid-channel and nearshore sites, as well as locations influenced by tributaries and WWTP outfalls. The detection frequency of the study pharmaceuticals was almost identical between the May and July sampling periods at 55% and 52%, respectively. Six pharmaceuticals were measurable at 92% or more of the sites during both sampling periods, illustrating their ubiquitous presence throughout the study area. Individual pharmaceutical concentrations were highly variable spatially, ranging from non-detect to 3810â¯ng/L during the study. Major factors controlling concentrations were proximity and magnitude of WWTP discharges, inputs from tributaries and tidal mixing. Two compounds, sucralose and caffeine, were evaluated as tracers to identify wastewater sources and assess pharmaceutical behavior. Sucralose was useful in identifying wastewater inputs to the river and concentrations showed excellent correlations with numerous pharmaceuticals in the study. Caffeine-sucralose ratios showed potential in identifying discharges of untreated wastewater occurring during a combined sewage overflow event. Many of the study pharmaceuticals were present throughout the Hudson River Estuary as a consequence of sustained wastewater discharge. Whereas some concentrations were above published effects levels, a more complete risk assessment is needed to understand the potential for ecological impacts due to pharmaceuticals in the Hudson River Estuary.
Subject(s)
Pharmaceutical Preparations/analysis , Wastewater/analysis , Water Pollutants, Chemical/analysis , Environmental Monitoring/methods , Estuaries , Humans , New York , Rivers/chemistry , Sewage , Sucrose/analogs & derivatives , Sucrose/analysis , Waste Disposal, Fluid , Wastewater/chemistry , WeatherABSTRACT
The marine eukaryotic alga Heterosigma akashiwo (Raphidophyceae) is known for forming ichthyotoxic harmful algal blooms (HABs). In the past 50 years, H. akashiwo blooms have increased, occurring globally in highly eutrophic coastal and estuarine systems. These systems often incur dramatic physicochemical changes, including macronutrient (nitrogen and phosphorus) enrichment and depletion, on short timescales. Here, H. akashiwo cultures grown under nutrient replete, low N and low P growth conditions were examined for changes in biochemical and physiological characteristics in concert with transcriptome sequencing to provide a mechanistic perspective on the metabolic processes involved in responding to N and P stress. There was a marked difference in the overall transcriptional pattern between low N and low P transcriptomes. Both nutrient stresses led to significant changes in the abundance of thousands of contigs related to a wide diversity of metabolic pathways, with limited overlap between the transcriptomic responses to low N and low P. Enriched contigs under low N included many related to nitrogen metabolism, acquisition, and transport. In addition, metabolic modules like photosynthesis and carbohydrate metabolism changed significantly under low N, coincident with treatment-specific changes in photosynthetic efficiency and particulate carbohydrate content. P-specific contigs responsible for P transport and organic P use were more enriched in the low P treatment than in the replete control and low N treatment. These results provide new insight into the genetic mechanisms that distinguish how this HAB species responds to these two common nutrient stresses, and the results can inform future field studies, linking transcriptional patterns to the physiological ecology of H. akashiwo in situ.
Subject(s)
Dinoflagellida/genetics , Dinoflagellida/physiology , Harmful Algal Bloom/physiology , Nitrates/toxicity , Phosphates/toxicity , Stress, Physiological/genetics , Transcription, Genetic , Dinoflagellida/drug effects , Gene Expression Regulation/drug effects , Stress, Physiological/drug effects , Transcription, Genetic/drug effectsABSTRACT
The concentration and composition of bioavailable nitrogen (N) and phosphorus (P) in the upper ocean shape eukaryotic phytoplankton communities and influence their physiological responses. Phytoplankton are known to exhibit similar physiological responses to limiting N and P conditions such as decreased growth rates, chlorosis, and increased assimilation of N and P. Are these responses similar at the molecular level across multiple species? To interrogate this question, five species from biogeochemically important, bloom-forming taxa (Bacillariophyta, Dinophyta, and Haptophyta) were grown under similar low N, low P, and replete nutrient conditions to identify transcriptional patterns and associated changes in biochemical pools related to N and P stress. Metabolic profiles, revealed through the transcriptomes of these taxa, clustered together based on species rather than nutrient stressor, suggesting that the global metabolic response to nutrient stresses was largely, but not exclusively, species-specific. Nutrient stress led to few transcriptional changes in the two dinoflagellates, consistent with other research. An orthologous group analysis examined functionally conserved (i.e., similarly changed) responses to nutrient stress and therefore focused on the diatom and haptophytes. Most conserved ortholog changes were specific to a single nutrient treatment, but a small number of orthologs were similarly changed under both N and P stress in 2 or more species. Many of these orthologs were related to photosynthesis and may represent generalized stress responses. A greater number of orthologs were conserved across more than one species under low P compared to low N. Screening the conserved orthologs for functions related to N and P metabolism revealed increased relative abundance of orthologs for nitrate, nitrite, ammonium, and amino acid transporters under N stress, and increased relative abundance of orthologs related to acquisition of inorganic and organic P substrates under P stress. Although the global transcriptional responses were dominated by species-specific changes, the analysis of conserved responses revealed functional similarities in resource acquisition pathways among different phytoplankton taxa. This overlap in nutrient stress responses observed among species may be useful for tracking the physiological ecology of phytoplankton field populations.
ABSTRACT
With rising atmospheric CO2, phytoplankton face shifts in ocean chemistry including increased dissolved CO2 and acidification that will likely influence the relative competitive fitness of different phytoplankton taxa. Here we compared the physiological and gene expression responses of six species of phytoplankton including a diatom, a raphidophyte, two haptophytes, and two dinoflagellates to ambient (~400 ppm) and elevated (~800 ppm) CO2. Dinoflagellates had significantly slower growth rates and higher, yet variable, chlorophyll a per cell under elevated CO2. The other phytoplankton tended to have increased growth rates and/or decreased chlorophyll a per cell. Carbon and nitrogen partitioning of cells shifted under elevated CO2 in some species, indicating potential changes in energy fluxes due to changes in carbon concentrating mechanisms (CCM) or photorespiration. Consistent with these phenotypic changes, gene set enrichment analyses revealed shifts in energy, carbon and nitrogen metabolic pathways, though with limited overlap between species in the genes and pathways involved. Similarly, gene expression responses across species revealed few conserved CO2-responsive genes within CCM and photorespiration categories, and a survey of available transcriptomes found high diversity in biophysical CCM and photorespiration expressed gene complements between and within the four phyla represented by these species. The few genes that displayed similar responses to CO2 across phyla were from understudied gene families, making them targets for further research to uncover the mechanisms of phytoplankton acclimation to elevated CO2. These results underscore that eukaryotic phytoplankton have diverse gene complements and gene expression responses to CO2 perturbations and highlight the value of cross-phyla comparisons for identifying gene families that respond to environmental change.
ABSTRACT
Heterotrophic bacteria resistant to tetracycline and ampicillin were assessed in waterways of the New York City metropolitan area using culture-dependent approaches and 16S rRNA gene sequence analysis of resultant isolates. Resistant microbes were detected at all 10 sampling sites in monthly research cruises on the lower Hudson River Estuary (HRE), with highest concentrations detected at nearshore sites. Higher frequency sampling was conducted in Flushing Bay, to enumerate resistant microbes under both dry and wet weather conditions. Concentrations of ampicillin- and tetracycline-resistant bacteria, in paired samples, were positively correlated with one another and increased following precipitation. Counts of the fecal indicator, Enterococcus, were positively correlated with levels of resistant bacteria, suggesting a shared sewage-associated source. Analysis of 16S rRNA from isolates identified a phylogenetically diverse group of resistant bacteria, including genera containing opportunistic pathogens. The occurrence of Enterobacteriaceae, a family of enteric bacteria, was found to be significantly higher in resistant isolates compared to total heterotrophic bacteria and increased following precipitation. This study is the first to document the widespread distribution of antibiotic-resistant bacteria in the HRE and to demonstrate clearly a link between the abundance of antibiotic-resistant bacteria and levels of sewage-associated bacteria in an estuary.
Subject(s)
Anti-Bacterial Agents/pharmacology , Drug Resistance, Bacterial , Estuaries , Rain , Rivers/microbiology , Water Microbiology , Bacteria/drug effects , Sewage , Water Pollutants , WeatherABSTRACT
AIMS: This study examines elements of genetic discrimination among an at-risk, clinically undiagnosed Huntington's disease (HD) population. METHODS: Sixty at-risk individuals, either positive or negative for the HD genetic mutation, completed a survey regarding their experiences of genetic discrimination, adverse and unfair treatment, and knowledge about existing laws and policies surrounding genetic discrimination. RESULTS: Sixty eight percent of participants reported feeling "Great benefit" from knowing their genetic test results. Reported benefits of knowledge included planning for the future, making decisions, and many individuals found meaning in active participation in the HD community and in advocating for themselves or families at risk for HD. Many individuals found personal meaning and a sense of community from knowledge of this information and from the ability to participate in research. Despite these positive feelings toward gene testing, results demonstrated that 33% of participants perceived experiences of genetic discrimination, which occurred repeatedly and caused great self-reported distress. Significantly, more gene-positive respondents reported experiencing incidents of genetic discrimination, compared to gene-negative respondents. At least 58 separate incidents of discrimination were reported, the number of incidents ranged from 1 to 10, with 45% of individuals (9/20 respondents) indicating more than one event. Of the most significant events of discrimination, 58% were related to insurance, 21% to employment, 16% to transactions of daily life, and 5% to relationships. CONCLUSION: Results contribute toward validation of empirical data regarding genetic discrimination.
Subject(s)
Employment/psychology , Genetic Predisposition to Disease/psychology , Genetic Testing , Health Surveys , Huntington Disease/genetics , Huntington Disease/psychology , Adult , Aged , Australia , Female , Humans , Huntington Disease/diagnosis , Insurance, Health/legislation & jurisprudence , Male , Middle Aged , Perception , Prejudice , Surveys and QuestionnairesABSTRACT
In polluted environments, when microbial aerosols originate locally, species composition of the aerosols should reflect the polluted source. To test the connection between local environmental pollution and microbial aerosols near an urban waterfront, we characterized bacterial aerosols at Newtown Creek (NTC), a public waterway and Superfund site in a densely populated area of New York, NY, USA. Culturable bacterial aerosol fallout rate and surface water bacterial concentrations were at least an order of magnitude greater at NTC than at a neighboring, less polluted waterfront and a nonurban coastal site in Maine. The NTC culturable bacterial aerosol community was significantly different in taxonomic structure from previous urban and coastal aerosol studies, particularly in relative abundances of Actinobacteria and Proteobacteria. Twenty-four percent of the operational taxonomic units in the NTC overall (air + water) bacterial isolate library were most similar to bacterial 16S rRNA gene sequences previously described in terrestrial or aquatic environments contaminated with sewage, hydrocarbons, heavy metals, and other industrial waste. This study is the first to examine the community composition and local deposition of bacterial aerosols from an aquatic Superfund site. The findings have important implications for the use of aeration remediation in polluted aquatic environments and suggest a novel pathway of microbial exposure in densely populated urban communities containing contaminated soil and water.
Subject(s)
Aerosols/analysis , Air Microbiology , Bacteria/growth & development , Environmental Monitoring/methods , Environmental Pollutants/analysis , Environmental Pollution/statistics & numerical data , Hazardous Waste , Air Pollutants/analysis , Bacteria/isolation & purification , CitiesABSTRACT
Leukocyte 8-hydroxydeoxyguanosine (8OHdG) is an indicator of oxidative stress, impaired metabolism, and mitochondrial dysfunction, features that have been implicated in Huntington disease (HD). Increased levels of 8OHdG have been reported in the caudate, parietal cortex, and peripherally in the serum and leukocytes, in patients diagnosed with HD. However, little is known about levels in prodromal patients and changes that might occur as the disease progresses. To address these issues, 8OHdG was tracked over time for a subset of participants enrolled in the PREDICT-HD study. Participants were stratified into four groups based on proximity to HD diagnosis at study entry: Controls (gene-negative individuals), Low (low probability of near-future diagnosis), Medium, and High. Blood samples were analyzed using Liquid Chromatography Electrochemical Array, and for comparison purposes, a separate cross-sectional sample was analyzed using liquid chromatography coupled with multiple-reaction-monitoring mass spectrometry. Longitudinal data analysis showed that initial status (at study entry) and annual rate of change varied as a function of proximity group, adjusting for sex, education, age at study entry, and site effects. Overall levels were lowest for the Control group and highest for the High group, and the rate of increase varied in a similar manner. The finding that 8OHdG concentrations increased as a function of proximity to projected disease diagnosis and duration indicates support for the continued assessment of 8OHdG as a robust clinical HD biomarker.
Subject(s)
Deoxyguanosine/analogs & derivatives , Huntington Disease/diagnosis , Huntington Disease/metabolism , Leukocytes/metabolism , 8-Hydroxy-2'-Deoxyguanosine , Adult , Aged , Biomarkers/blood , Blood Specimen Collection , Chromatography, High Pressure Liquid , Cross-Sectional Studies , Deoxyguanosine/blood , Disease Progression , Electrochemistry , Female , Humans , Longitudinal Studies , Male , Mass Spectrometry , Middle Aged , Predictive Value of TestsABSTRACT
Coarse aerosols (particle diameter (D(p)) > 2 µm) produced in coastal surf zones carry chemical and microbial content to shore, forming a connection between oceanic, atmospheric, and terrestrial systems that is potentially relevant to coastal ecology and human health. In this context, the effects of tidal height, wind speed, and fog on coastal coarse aerosols and microbial content were quantified on the southern coast of Maine, USA. Aerosols at this site displayed clear marine influence and had high concentrations of ecologically relevant nutrients. Coarse aerosol concentrations significantly increased with tidal height (i.e., decreasing distance from waterline), onshore wind speed, and fog presence. As onshore wind speeds rose above 3 m s(-1), the mean half-deposition distance of coarse aerosols increased to an observed maximum of 47.6 ± 10.9 m from the water's edge at wind speeds from 5.5-8 m s(-1). Tidal height and fog presence did not significantly influence total microbial aerosol concentrations but did have a significant effect on culturable microbial aerosol fallout. At low wind speeds, culturable microbial aerosols falling out near-shore decreased by half at a distance of only 1.7 ± 0.4 m from the water's edge, indicating that these microbes may be associated with large coarse aerosols with rapid settling rates.
Subject(s)
Aerosols/analysis , Air Pollutants/analysis , Aerosols/chemistry , Air Microbiology , Air Pollutants/chemistry , Atmosphere/chemistry , Bacteria/growth & development , Bacteria/isolation & purification , Colony Count, Microbial , Environmental Monitoring/methods , Particle Size , Seawater/chemistry , Seawater/microbiology , Tidal Waves , Water Movements , WindABSTRACT
OBJECTIVE: As therapeutics are being developed to target the underlying neuropathology of Huntington disease, interest is increasing in methodologies for conducting clinical trials in the prodromal phase. This study was designed to examine the potential utility of structural MRI measures as outcome measures for such trials. METHODS: Data are presented from 211 prodromal individuals and 60 controls, scanned both at baseline and at the 2-year follow-up. Prodromal participants were divided into groups based on proximity to estimated onset of diagnosable clinical disease: far (>15 years from estimated onset), mid (9-15 years) and near (<9 years). Volumetric measurements of caudate, putamen, total striatum, globus pallidus, thalamus, total grey and white matter and cerebrospinal fluid were performed. RESULTS: All prodromal groups showed a faster rate of atrophy than controls in striatum, total brain and cerebral white matter (especially in the frontal lobe). Neither prodromal participants nor controls showed any significant longitudinal change in cortex (either total cortical grey or within individual lobes). When normal age-related atrophy (ie, change observed in the control group) was taken into account, there was more statistically significant disease-related atrophy in white matter than in striatum. CONCLUSION: Measures of volume change in striatum and white-matter volume, particularly in the frontal lobe, may serve as excellent outcome measures for future clinical trials in prodromal Huntington disease. Clinical trials using white matter or striatal volume change as an outcome measure will be most efficient if the sample is restricted to individuals who are within 15 years of estimated onset of diagnosable disease.
Subject(s)
Brain/pathology , Disease Progression , Huntington Disease/pathology , Adult , Atrophy/pathology , Female , Humans , Huntington Disease/diagnosis , Longitudinal Studies , Magnetic Resonance Imaging/methods , Male , Middle Aged , Nerve Fibers, Myelinated/pathology , Nerve Fibers, Unmyelinated/pathology , Time FactorsABSTRACT
AIMS: A family history of Huntington disease (HD) or receiving results of HD predictive genetic testing can influence individual well-being, family relationships, and social interactions in positive and negative ways. The aim of this study was to examine benefits reported by people with an HD family history or those who have undergone predictive HD testing, as well as the personal variables associated with perceived benefits. METHODS: Seventy-four of 433 people completing the International Response of a Sample Population to HD risk (I-RESPOND-HD) survey reported benefits. Knowledge and understanding was perceived as the most common benefit from participants in both groups. The next most frequent perceived benefits from a family history were connecting with others and achieving life meaning and insights. The next most common perceived benefits from genetic testing were life planning and social support. The least common perceived benefit for both groups was renewed hope and optimism. Older age and spirituality were significantly associated with benefits in both groups. CONCLUSIONS: Perceptions of benefit may not be as likely until later years in people with prodromal HD. A developed sense of spirituality is identified as a personal resource associated with the perception of benefit from genetic testing for HD. Associations among spirituality, perceived benefits, and other indicators of personal and family well-being may be useful in genetic counseling and health care of people with prodromal HD.
Subject(s)
Family Health , Genetic Predisposition to Disease/psychology , Genetic Testing/psychology , Huntington Disease/psychology , Patient Satisfaction , Adaptation, Psychological , Adult , Child , Child of Impaired Parents/psychology , Decision Making , Female , Genetic Counseling , Humans , Huntington Disease/diagnosis , Knowledge , Male , Middle Aged , Prejudice , Risk , Self Concept , Social Support , Spirituality , Time FactorsABSTRACT
Neuroimaging studies of subjects who are gene-expanded for Huntington Disease, but not yet diagnosed (termed prodromal HD), report that the cortex is "spared," despite the decrement in striatal and cerebral white-matter volume. Measurement of whole-cortex volume can mask more subtle, but potentially clinically relevant regional changes in volume, thinning, or surface area. The current study addressed this limitation by evaluating cortical morphology of 523 prodromal HD subjects. Participants included 693 individuals enrolled in the PREDICT-HD protocol. Of these participants, 523 carried the HD gene mutation (prodromal HD group); the remaining 170 were non gene-expanded and served as the comparison group. Based on age and CAG repeat length, gene-expanded subjects were categorized as "Far from onset," "Midway to onset," "Near onset," and "already diagnosed." MRI scans were processed using FreeSurfer. Cortical volume, thickness, and surface area were not significantly different between the Far from onset group and controls. However, beginning in the Midway to onset group, the cortex showed significant volume decrement, affecting most the posterior and superior cerebral regions. This pattern progressed when evaluating the groups further into the disease process. Areas that remained mostly unaffected included ventral and medial regions of the frontal and temporal cortex. Morphologic changes were mostly in thinning as surface area did not substantially change in most regions. Early in the course of HD, the cortex shows changes that are manifest as cortical thinning and are most robust in the posterior and superior regions of the cerebrum.
Subject(s)
Cerebral Cortex/pathology , Huntington Disease/pathology , Adult , Early Diagnosis , Female , Humans , Huntington Disease/genetics , Longitudinal Studies , Magnetic Resonance Imaging , Male , Middle AgedABSTRACT
Genetic discrimination-defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)-is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States, Canada, and Australia combined. The incidence of self-reported discrimination is less than the overall worry about the risk of discrimination, which is more prevalent in each domain. Despite a relatively low rate of perceived genetic discrimination in the areas of health insurance and employment, compared to the perception of discrimination and stigma in personal relationships, the cumulative burden of genetic discrimination across all domains of experience represents a challenge to those at risk for HD. The effect of this cumulative burden on daily life decisions remains unknown.
Subject(s)
Health Surveys , Huntington Disease/genetics , Huntington Disease/psychology , International Cooperation , Perception , Prejudice , Adult , Demography , Employment/legislation & jurisprudence , Female , Health Knowledge, Attitudes, Practice , Humans , Insurance, Health/legislation & jurisprudence , Male , Middle AgedABSTRACT
Genetic discrimination may be experienced in the day-to-day lives of people at risk for Huntington disease (HD), encompassing occurrences in the workplace, when seeking insurance, within social relationships, and during other daily encounters. At-risk individuals who have tested either positive or negative for the genetic expansion that causes HD, as well as at-risk persons with a 50% chance for developing the disorder but have not had DNA testing completed the International RESPOND-HD (I-RESPOND-HD) survey. One of the study's purposes was to examine perceptions of genetic stigmatization and discrimination. A total of 412 out of 433 participants provided narrative comments, and 191 provided related codable narrative data. The core theme, Information Control, refers to organizational policies and interpersonal actions. This theme was found in narrative comments describing genetic discrimination perceptions across employment, insurance, social, and other situations. These reports were elaborated with five themes: What They Encountered, What They Felt, What Others Did, What They Did, and What Happened. Although many perceptions were coded as hurtful, this was not true in all instances. Findings document that reports of genetic discrimination are highly individual, and both policy as well as interpersonal factors contribute to the outcome of potentially discriminating events.
Subject(s)
Genetic Testing/psychology , Health Surveys , Huntington Disease/genetics , Huntington Disease/psychology , Social Stigma , Adult , Employment/legislation & jurisprudence , Family , Female , Humans , Insurance, Health/legislation & jurisprudence , International Cooperation , Interpersonal Relations , Male , Middle AgedABSTRACT
Previous MRI studies with participants prior to manifest Huntington disease have been conducted in small single-site samples. The current study reports data from a systematic multi-national study during the prodromal period of Huntington disease and examines whether various brain structures make unique predictions about the proximity to manifest disease. MRI scans were acquired from 657 participants enrolled at 1 of 32 PREDICT-HD research sites. Only prodromal Huntington disease participants (those not meeting motor criteria for diagnosis) were included and subgrouped by estimated diagnosis proximity (Near, Mid, and Far) based upon a formula incorporating age and CAG-repeat length. Results show volumes of all three subgroups differed significantly from Controls for total brain tissue, cerebral spinal fluid, white matter, cortical gray matter, thalamus, caudate, and putamen. Total striatal volume demonstrated the largest differences between Controls and all three prodromal subgroups. Cerebral white matter offered additional independent power in the prediction of estimated proximity to diagnosis. In conclusion, this large cross-sectional study shows that changes in brain volume are detectable years to decades prior to estimated motor diagnosis of Huntington disease. This suggests that a clinical trial of a putative neuroprotective agent could begin as much as 15 years prior to estimated motor diagnosis in a cohort of persons at risk for but not meeting clinical motor diagnostic criteria for Huntington disease, and that neuroimaging (striatal and white matter volumes) may be among the best predictors of diagnosis proximity.
Subject(s)
Brain , Corpus Striatum/pathology , Huntington Disease/diagnosis , Huntington Disease/pathology , Nerve Fibers, Myelinated/pathology , Adult , Brain/anatomy & histology , Brain/pathology , Cross-Sectional Studies , Female , Humans , Huntington Disease/physiopathology , Magnetic Resonance Imaging/methods , Male , Middle Aged , Models, Anatomic , Phenotype , Predictive Value of TestsABSTRACT
Sea ice microbial community structure affects carbon and nutrient cycling in polar seas, but its susceptibility to changing environmental conditions is not well understood. We studied the eukaryotic microbial community in sea ice cores recovered near Point Barrow, AK in May 2006 by documenting the composition of the community in relation to vertical depth within the cores, as well as light availability (mainly as variable snow cover) and nutrient concentrations. We applied a combination of epifluorescence microscopy, denaturing gradient gel electrophoresis and clone libraries of a section of the 18S rRNA gene in order to compare the community structure of the major eukaryotic microbial phylotypes in the ice. We find that the community composition of the sea ice is more affected by the depth horizon in the ice than by light availability, although there are significant differences in the abundance of some groups between light regimes. Epifluorescence microscopy shows a shift from predominantly heterotrophic life styles in the upper ice to autotrophy prevailing in the bottom ice. This is supported by the statistical analysis of the similarity between the samples based on the denaturing gradient gel electrophoresis banding patterns, which shows a clear difference between upper and lower ice sections with respect to phylotypes and their proportional abundance. Clone libraries constructed using diatom-specific primers confirm the high diversity of diatoms in the sea ice, and support the microscopic counts. Evidence of protistan grazing upon diatoms was also found in lower sections of the core, with implications for carbon and nutrient recycling in the ice.