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Background Sickle Cell Disease (SCD) causes profound suffering and decrements in daily functioning. Demand is growing for valid and reliable measures to systematically document these effects, particularly in adults. The Adult Sickle Cell Quality of Life Measurement System, ASCQ-Me℠, was developed for this purpose. ASCQ-Me℠ is one of four measurement systems housed within the Person–Centered Assessment Resource (PCAR), funded by the National Institutes of Health, to support clinical research. To help users select the best of these measures for adults with SCD, we evaluated and compared two PCAR systems: one designed to be “universally applicable” (the Patient-Reported Outcome Measurement Information System, PROMIS®) and one designed specifically for SCD (ASCQ-Me℠). Methods Respondents to PROMIS and ASCQ-Me questions were 490 adults with SCD from seven geographically-disbursed clinics within the US. Data were collected for six ASCQ-Me measures (Emotional Impact, Sleep Impact, Social Impact, Stiffness Impact, Pain Impact, SCD Pain Episode Frequency and Severity) and ten PROMIS measures (Pain Impact, Pain Behavior, Physical Functioning, Anxiety, Depression, Fatigue, Satisfaction with Discretionary Social Activities, Satisfaction with Social Roles, Sleep Disturbance, and Sleep-Related Impairment). Statistical analyses, including analysis of variance and multiple linear regression, were conducted to determine the sensitivity of measures to SCD severity. SCD severity was assessed via a checklist of associated treatments and conditions. Results For those with the most severe SCD, PROMIS scores showed worse health compared to the general population for nine of ten health domains: the magnitude of the difference ranged 0.5 to 1.1 standard deviation units. The PROMIS domains most severely affected were Physical Functioning and Pain (Impact and Behavior). Significant differences by tertile of the SCD-MHC were shown for most PROMIS short forms and all ASCQ-Me short and fixed forms. In most models, ASCQ-Me measures explained statistically significant unique variance in SCD-MHC scores complementary to that explained by corresponding PROMIS measures. Conclusions Study results supported the validity of both PROMIS and ASCQ-Me measures for use in adults with SCD. Compared to comparable PROMIS scores, most ASCQ-Me scores were better predictors of SCD disease severity, as measured by a medical history checklist. The clinical implications of these results require further investigation.

Environmental pollution is regarded as one of the most substantial threats facing freshwater ecosystems. Two contaminant types in particular, metals and pesticides, represent both long‐term and widespread hazards to aquatic environments. Contamination negatively affects the health of aquatic flora and fauna. Constructed wetlands are an important mitigation measure for managing stormwater in urban landscapes. Given that constructed wetlands are designed to capture and retain contaminants from stormwater in sediments, the resulting chemical profiles are largely representative of contamination in the surrounding local catchment and aquatic environments. Environmental DNA is expanding the field of aquatic monitoring, introducing the ability to assess biological profiles quickly and reliably, and expanding the knowledge of how contamination affects ecosystems down to a microbial level. Here, we used environmental DNA (eDNA) metabarcoding to characterize the sedimentary microbial profiles of nine urban stormwater wetlands and one rural wetland with low levels of contamination and assess the variation in community structures between sites as well as between the inlet and outlet within each site. We found significant variation in microbial communities between the rural (reference) wetland and stormwater wetlands, variation between some stormwater wetlands, and between over half of the inlets to outlets. The bacterial phyla Cyanobacteria and Proteobacteria were mostly driving this variation, along with Planctomycetota and Bacteroidota. We also found correlations between microbial community structure and chemical occurrences, particularly zinc and barium, with the latter not previously reported to be associated with microbial dynamics in freshwater environments. Our study validates the ability of eDNA metabarcoding to reliably evaluate sedimentary microbial profiles in stormwater wetlands and highlights its value in the assessment and prediction of contamination in these environments. Constructed wetlands are designed to retain contaminants from stormwater which would otherwise pose significant threats to freshwater ecosystems downstream. Here, we utilized the ability of environmental DNA metabarcoding to assess biological profiles quickly and reliably to characterize the sedimentary microbial profiles of nine urban stormwater wetlands and one rural wetland, and compare against their chemical profiles. We found significant variation between the microbial communities driven primarily by Cyanobacteria and Proteobacteria, and identified zinc and barium as key chemicals influencing microbial community structure.

Sickle cell disease (SCD) is a genetic blood disorder that affects approximately 100,000 individuals in the United States, with the highest prevalence among Black or African American populations. While advances in care have improved survival, comprehensive state-level data on the prevalence of SCD remain limited, which hampers efforts to optimize health care services. To address this gap, the Colorado Sickle Cell Data Collection (CO-SCDC) program was established in 2021 as part of the Centers for Disease Control and Prevention's initiative to enhance surveillance and public health efforts for SCD. The objectives of this study were to describe the establishment of the CO-SCDC program and to provide updated estimates of the prevalence and birth prevalence of SCD in Colorado, including geographic dispersion. Additional objectives include evaluating the accuracy of case identification methods and leveraging surveillance activities to inform public health initiatives. Data were collected from Health Data Compass (a multi-institutional data warehouse) containing electronic health records from the University of Colorado Health and Children's Hospital Colorado for the years 2012-2020. Colorado newborn screening program data were included for confirmed SCD diagnoses from 2001 to 2020. Records were linked using the Colorado University Record Linkage tool and deidentified for analysis. Case definitions, adapted from the Centers for Disease Control and Prevention's Registry and Surveillance System for Hemoglobinopathies project, classified cases as possible, probable, or definite SCD. Clinical validation by hematologists was performed to ensure accuracy, and prevalence rates were calculated using 2020 US Census population estimates. In 2019, 435 individuals were identified as living with SCD in Colorado, an increase of 16%-40% over previous estimates, with the majority (n=349, 80.2%) identifying as Black or African American. The median age of individuals was 19 years. The prevalence of SCD was highest in urban counties, with concentrations in Arapahoe, Denver, and El Paso counties. Birth prevalence of SCD increased from 11.9 per 100,000 live births between 2010 and 2014 to 20.1 per 100,000 live births between 2015 and 2019 with 58.5% (n=38) of cases being hemoglobin (Hb) SS or HbSβ0 thalassemia subtypes. The study highlighted a 67% (n=26) increase in SCD births over the decade, correlating with the growth of the Black or African American population in the state. The CO-SCDC program successfully established the capacity to perform SCD surveillance and, in doing so, identified baseline prevalence estimates for SCD in Colorado. The findings highlight geographic dispersion across Colorado counties, highlighting the need for equitable access to specialty care, particularly for rural populations. The combination of automated data linkage and clinical validation improved case identification accuracy. Future efforts will expand surveillance to include claims data to better capture health care use and address potential underreporting. These results will guide public health interventions aimed at improving care for individuals with SCD in Colorado.

Port Phillip Bay, Australia, is a large semi-closed bay with over four million people living in its catchment basin. The Bay receives waters from the Yarra River which drains the city of Melbourne, as well as receiving the discharges of sewage treatment plants and petrochemical and agricultural chemicals. A 1999 study demonstrated that fish inhabiting Port Phillip Bay showed signs of effects related to pollutant exposure despite pollution management practices having been implemented for over a decade. To assess the current health status of the fish inhabiting the Bay, a follow up survey was conducted in 2015. A suite of biomarkers of exposure and effects were measured to determine the health status of Port Phillip Bay sand flathead (Platycephalus bassensis), namely ethoxyresorufin-O-deethylase (EROD) activity, polycyclic aromatic hydrocarbons (PAH) biliary metabolites, carboxylesterase activity (CbE) and DNA damage (8-oxo-dG). The reduction in EROD activity in the present study suggests a decline in the presence of EROD activity-inducing chemicals within the Bay since the 1990s. Fish collected in the most industrialised/urbanised sites did not display higher PAH metabolite levels than those in less developed areas of the Bay. Ratios of PAH biliary metabolite types were used to indicate PAH contaminant origin. Ratios indicated fish collected at Corio Bay and Hobsons Bay were subjected to increased low molecular weight hydrocarbons of petrogenic origin, likely attributed to the close proximity of these sites to oil refineries, compared to PAH biliary metabolites in fish from Geelong Arm and Mordialloc. Quantification of DNA damage indicated a localised effect of exposure to pollutants, with a 10-fold higher DNA damage level in fish sampled from the industrial site of Corio Bay relative to the less developed site of Sorrento. Overall, integration of biomarkers by multivariate analysis indicated that the health of fish collected in industrialised areas was compromised, with biologically significant biomarkers of effects (LSI, CF and DNA damage) discriminating between individuals collected in industrialised areas from observations made in fish collected in less developed areas of the Bay.

A growing population of adults living with severe, chronic childhood-onset health conditions has created a need for specialized health care delivered by providers who have expertise both in adult medicine and in those conditions. Optimal care of these patients requires systematic approaches to healthcare transition (HCT). Guidelines for HCT exist, but gaps in care occur, and there are limited data on outcomes of HCT processes. The Single Disease Workgroup of the Lifespan Domain Task Force of the National Center for Advancing Translational Sciences Clinical and Translational Science Award programs convened a group to review the current state of HCT and to identify gaps in research and practice. Using cystic fibrosis and sickle cell disease as models, key themes were developed. A literature search identified general and disease-specific articles. We summarized key findings. We identified literature characterizing patient, parent and healthcare provider perspectives, recommendations for transition care, and barriers to effective transition. With increased survival of patients with severe childhood onset diseases, ongoing study of effective transition practices is essential as survival increases for severe childhood onset diseases. We propose pragmatic methods to enhance transition research to improve health and key outcomes.

This exploratory study aims to investigate the health of sand flathead (Platycephalus bassensis) sampled from five sites in Port Phillip Bay, Australia using gas chromatography-mass spectrometry (GC-MS) metabolomics approaches. Three of the sites were the recipients of industrial, agricultural, and urban run-off and were considered urban sites, while the remaining two sites were remote from contaminant inputs, and hence classed as rural sites. Morphological parameters as well as polar and free fatty acid metabolites were used to investigate inter-site differences in fish health. Significant differences in liver somatic index (LSI) and metabolite abundance were observed between the urban and rural sites. Differences included higher LSI, an increased abundance of amino acids and energy metabolites, and reduced abundance of free fatty acids at the urban sites compared to the rural sites. These differences might be related to the additional energy requirements needed to cope with low-level contaminant exposure through energy demanding processes such as detoxification and antioxidant responses as well as differences in diet between the sites. In this study, we demonstrate that metabolomics approaches can offer a greater level of sensitivity compared to traditional parameters such as physiological parameters or biochemical markers of fish health, most of which showed no or little inter-site differences in the present study. Moreover, the metabolite responses are more informative than traditional biomarkers in terms of biological significance as disturbances in specific metabolic pathways can be identified.

The FDA approved hydroxyurea for use in adults with sickle cell disease (SCD) in 1998. In 2002, the NHLBI published recommendations for the use of hydroxyurea in this patient population. The purpose of this study was to evaluate providers’ awareness of the NHLBI recommendations regarding hydroxyurea prescribing, whether these recommendations have changed providers’ practices and how these providers prescribed hydroxyurea. We chose to survey a select group of providers of care to adults with SCD, members of the Sickle Cell Adult Provider Network. The response rate was 47%. Eighty-one percent of respondents reported they had read the NHLBI recommendations on hydroxyurea use, and 76% of respondents agreed with the NHLBI recommendations. Only 45% of respondents to this survey reported that they prescribe hydroxyurea to every eligible patient. Black respondents reported a higher percentage of their eligible patients being on hydroxyurea than white respondents. Seventy-seven percent of respondents thought that hydroxyurea was effective or very effective in patients with SCD. Ninety-four percent of black versus 73% of white versus 40% of other race respondents thought that hydroxyurea was effective or very effective in SCD patients (p=0.006). The results of this survey suggest that lack of awareness, agreement and belief in the benefits of hydroxyurea contributes to providers underprescribing hydroxyurea.

Background Providers and patients have called for improved understanding of the health care requirements of adults with sickle cell disease (SCD) and have identified the need for a systematic, reliable and valid method to document the patient-reported outcomes (PRO) of adult SCD care. To address this need, the Adult Sickle Cell Quality of Life Measurement System (ASCQ-Me) was designed to complement the Patient Reported Outcome Measurement Information System (PROMIS®). Here we describe methods and results of the psychometric evaluation of ASCQ-Me item banks (IBs). Methods At seven geographically-disbursed clinics within the US, 556 patients responded to questions generated to assess cognitive, emotional, physical and social impacts of SCD. We evaluated the construct validity of the hypothesized domains using exploratory factor analysis (EFA), parallel analysis (PA), and bi-factor analysis (Item Response Theory Graded Response Model, IRT-GRM). We used IRT-GRM and the Wald method to identify bias in responses across gender and age. We used IRT and Cronbach’s alpha coefficient to evaluate the reliability of the IBs and then tested the ability of summary scores based on IRT calibrations to discriminate among tertiles of respondents defined by SCD severity. Results Of the original 140 questions tested, we eliminated 48 that either did not form clean factors or provided biased measurement across subgroups defined by age and gender. Via EFA and PA, we identified three subfactors within physical impact: sleep, pain and stiffness impacts. Analysis of the resulting six item sets (sleep, pain, stiffness, cognitive, emotional and social impacts of SCD) supported their essential unidimensionality. With the exception of the cognitive impact IB, these item sets also were highly reliable across a broad range of values and highly significantly related to SCD disease severity. Conclusion ASCQ-Me pain, sleep, stiffness, emotional and social SCD impact IBs demonstrated exceptional measurement properties using modern and classical psychometric methods of evaluation. Further development of the cognitive impact IB is required to improve its sensitivity to differences in SCD disease severity. Future research will evaluate the sensitivity of the ASCQ-Me IBs to change in SCD disease severity over time due to health interventions.

The role of pulmonary hypertension as a cause of mortality in sickle cell disease (SCD) is controversial. We evaluated the relationship between an elevated estimated pulmonary artery systolic pressure and mortality in patients with SCD. We followed patients from the walk-PHaSST screening cohort for a median of 29 months. A tricuspid regurgitation velocity (TRV)≥ 3.0 m/s cuttof, which has a 67-75% positive predictive value for mean pulmonary artery pressure ≥ 25 mm Hg was used. Among 572 subjects, 11.2% had TRV ≥ 3.0 m/sec. Among 582 with a measured NT-proBNP, 24.1% had values ≥ 160 pg/mL. Of 22 deaths during follow-up, 50% had a TRV ≥ 3.0 m/sec. At 24 months the cumulative survival was 83% with TRV ≥ 3.0 m/sec and 98% with TRV < 3.0 m/sec (p < 0.0001). The hazard ratios for death were 11.1 (95% CI 4.1-30.1; p < 0.0001) for TRV ≥ 3.0 m/sec, 4.6 (1.8-11.3; p = 0.001) for NT-proBNP ≥ 160 pg/mL, and 14.9 (5.5-39.9; p < 0.0001) for both TRV ≥ 3.0 m/sec and NT-proBNP ≥ 160 pg/mL. Age > 47 years, male gender, chronic transfusions, WHO class III-IV, increased hemolytic markers, ferritin and creatinine were also associated with increased risk of death. A TRV ≥ 3.0 m/sec occurs in approximately 10% of individuals and has the highest risk for death of any measured variable. The study is registered in ClinicalTrials.gov with identifier: NCT00492531.

1. Aquatic ecosystems near urban areas are often ecologically impaired, but causative factors are rarely identified. Effects may be revealed by considering multiple lines of evidence at different levels of biological organization. 2. Biological impairment is evident in the urban section of the Upper Dandenong Creek Catchment (Victoria, Australia). We assessed whether episodic sewage spills or other pollutants were the cause of poor ecological condition in the stream. The evidence evaluated included chemical and invertebrate assessments, caging studies of mudsnails Potamopyrgus antipodarum, antioxidant biomarkers and endocrine disruption-related endpoints in fish (Carassius auratus and Gambusia holbrooki) and toxicological studies with chironomids (Chironomus tepperi). 3. A combination of metals and pesticides is likely to be affecting the aquatic fauna across all biological levels, with macroinvertebrate communities, P. antipodarum and C. tepperi populations and C. auratus individuals all ecologically impaired. Adverse alterations to aquatic fauna were consistently seen in Bungalook Creek and persisted downstream of this confluence into Dandenong Creek. 4. In addition, chemical assessments and toxicity identification evaluation (TIEs) resulted in several point sources of both metals and pesticides being identified as origins of impairment. This contrasted with an expectation that adverse effects were likely to be associated with sewer-related pollution. As a consequence, target areas and specific pollutants were identified for remediation instead of an expensive sewer upgrade. 5. Synthesis and applications. The results demonstrate that it is important to investigate biological effects in different taxa, in both the laboratory and field, to understand which stressors are causing adverse effects on faunal assemblages. When adverse effects are seen across multiple levels of biological organization and caused by the same pollutant from an identifiable source, there is a clear remedial path for managers.