ALBERT

Description: Background: Common measures and common data elements (CDEs) for sickle cell disease (SCD) are needed to help improve data quality and data comparability necessary for meta-analyses, guidelines development, and implementation science. In recent years, the National Heart, Lung, and Blood Institute (NHLBI) has undertaken several activities to develop CDEs and measures for SCD. These include developing 1) the Sickle Cell Quality of Life Measurement Information System (ASCQ-Me); 2) clinical practice recommendations for the management of SCD; and 3) a lexicon and consensus definitions for the most frequently occurring complications of SCD. In 2014, the NHLBI funded an Administrative Supplement to the PhenX Toolkit to identify common measures to further promote data comparability across SCD research. The Web-based PhenX Toolkit (consensus measures for Phen otypes and eX posures, https://www.phenxtoolkit.org/) provides a catalog of 449 standard measures and associated interoperability resources to help investigators improve quality of data collection and identify opportunities for collaborative research. The development and maintenance of PhenX Toolkit content is driven by the scientific research community. A Steering Committee, comprised of 11 scientists with a wide range of expertise, provides overarching guidance for the project and Working Groups (WG) of subject matter experts select measures for inclusion the PhenX Toolkit. Methods: An 11 member Sickle Cell Disease Research and Scientific Panel (SRSP) was assembled to provide guidance to the project, establish a Core Collection of SCD-related measures, and to define the scope of two Specialty Collections: 1) Cardiovascular, Pulmonary, and Renal Complications and 2) Neuroglogy, Quality of Life, and Health Services. For each Specialty Collection, a Working Group (WG) of seven SCD experts was convened to select high priority measures for inclusion in the Toolkit. Each WG selected representative measures available in the published literature or already in the Toolkit using a consensus process which included input from the scientific community. For each measure, the Toolkit provides a description of the measure, the rationale for its inclusion, detailed protocol(s), and supporting documentation. The Toolkit also provides data collection worksheets and data dictionaries to help integrate PhenX measures into their study design. To support investigators who want to collect data via the Web, PhenX protocols are available as REDCap Instrument Zip files. Results: The Sickle Cell Disease Core and Specialty Collections were released into the Toolkit in August of 2015. The Core Collection, which includes 25 measures covering demographics, socioeconomic status, anthropometrics, pulse oximetry, hemoglobin characterization, history of transfusion, and SCD-related pain episodes, is recommended for use by all NHLBI-funded investigators performing human subjects SCD research. The Specialty Collections are recommended for use within more specialized research areas. The Cardiovascular, Pulmonary, and Renal Specialty Collection includes 11 measures that address heart disease, lung function, and biomarkers for hemolysis, anemia, and iron overload. The Neurology, Quality of Life, and Health Services Specialty Collection includes 8 measures that address developmental delays, stroke risk factors and outcomes, quality of life, and quality of care. A list of other potentially relevant measures from the Toolkit was also developed and annotated for SCD. These measures, including the process, criteria, and rationale for their selection, will be presented. We now have consensus phenotypes of complications in SCD that are available for use in future clinical and epidemiologic studies and for use in harmonizing data across previous studies Implications: For researchers, adoption and use of PhenX standard measures will promote collaborations with clinicians and patients, facilitate cross-study analysis domestically and internationally, accelerate translational research, and lead to greater understanding of phenotypes and epigenetics in SCD. For clinicians, using PhenX measures will help improve patient care and quality of life. Consistent use of these standard measures will establish a common currency to help better understand the etiology, progression, and treatment of SCD. Funding provided by U01 HG004597 and U41 HG007050. Disclosures Klings: Pfizer: Consultancy; Actelion Pharmaceuticals: Research Funding. Panepinto:HRSA, NIH: Research Funding; NKT Therapeutics, Inc: Consultancy.

Description: Background: Quality of life (QOL) is a broad term that is clinically meaningless unless operationalized and measured as a patient outcome. Health-related quality of life (HRQOL) instruments, such as the SF36, are useful for comparisons among different patient populations. However, to measure disease-specific HRQOL, which enables determination of changes related to a disease or its treatments, it is necessary to develop and validate an instrument in a specific patient population. Disease-specific HRQOL describes the impact of a disease on patients’ well-being and functioning. Objective: The aim of this project is to develop and validate a psychometrically-sound questionnaire to measure HRQOL among adults with sickle cell disease (SCD) which will be useful for incorporation of HRQOL in research. Methods: Phase 1 of the project involved a review of published literature on HRQOL for adults with SCD which enabled construction of an initial taxonomy of domains. Qualitative data collection methods--focus groups (FG), and critical incident (CII) and key informant (KII) interviews—were used to identify SCD-specific HRQOL domains. FG, CII and KII were conducted with 100 patients and 15 providers to obtain specific descriptions of how SCD affects people’s lives. Patients were recruited in geographically diverse areas in the USA. Fifty-five percent were recruited through local chapters of the Sickle Cell Disease Association of America, and included any type of SCD. FG, CII, and KII continued until no new incidents were reported. Project team members individually and independently coded all incidents and classified them according to domains in the taxonomy. The initial taxonomy was revised to include information from the FG and interviews. Each domain was further divided into categories and subcategories until no additional details could be extracted from the incidents. Inter-rater reliability was determined using the kappa-statistic. Results: The taxonomy includes the following domains: (1) Emotions (2) Attitudes and Beliefs (3) Family/Social Relationships (4) Morbidities/Co-Morbidities (5) Sexuality and Reproduction (6) Medical Care (7) Health Insurance (8) Employment (9) Education (10) Faith/Spirituality (11) Altruism (12) Stress/Control/Predictability (13) Activity Limitations (14) Housing (15) Community. Within each domain are categories and subcategories that further describe issues that are affected by SCD and its treatment. For example, the domain Morbidities and Co-Morbidities includes sleep disturbance, addiction, pain, and medical complications. The project team derived specific questionnaire items from the taxonomy to create an item bank which will be tested in cognitive interviews during Phase 2 of the project to create a usable subset of items. The subset will be field-tested with patients to assess the instrument’s psychometric properties and to insure its feasibility. Discussion: The taxonomy is a comprehensive model of issues that affect adult SCD patients. It includes well-being and functioning, which are HRQOL outcomes, and patient preferences, satisfaction with and access to care, which are not traditionally assessed by HRQOL instruments. After validation and development of supporting materials, the project team will disseminate these resources and provide consultative services to the research community.

Description: Abstract 4771 In December 2010, the US Department of Health and Human Services released Healthy People 2020 (HP2020) Objectives for the nation. For the first time in its thirty-year history, US health objectives include rare blood disorders and blood safety (BDBS). HP2020 is a public health program that incorporates current clinical evidence and best practices in medicine and public health to identify public health priorities. The objectives are not clinical practice guidelines. Rather, they are scientifically-based, quantified goals to improve the health of specific populations, such as children and older adults. Their development and implementation necessitate partnerships among governmental agencies, organizations, private companies, and medical and health associations at the local, state and national levels. Partners collaborate on implementing activities to reach targeted health objectives for specific populations using educational campaigns, media and other communication venues. NHLBI led the effort with HRSA, CDC, FDA, and the Office of the Secretary to develop, vet and plan implementation of the BDBS objectives. The development process was based on qualitative research methods such as key informant interviews, semi-structured interviews and categorization of data into patterns. For example, categorization of interview results (“data”) identified specific objective topics, such as screening for complications and penicillin prophylaxis in sickle cell patients aged 4 months to 5 years. Other BDBS Objective topics are: vaccinations; patient and family referrals; care in a medical home; disease-modifying therapies; avoidable hospitalizations; high school completion; community health education; awareness of carrier status; joint health; and alloimmunization in chronic transfusion. http://healthypeople.gov/2020/topicsobjectives2020/default.aspx By sponsoring the BDBS objectives, lead governmental agencies commit to collecting, analyzing and reporting data on progress. We adopted the default target of a 10% improvement for each objective by 2020. If targets for each objective are met, the question will be: What is the impact of reaching these targets on morbidity, mortality and quality of life for patients with sickle cell disease, thalassemias and hemophilia? Disclosures: Hassell: NIH: Research Funding.

Description: During the RV Polarstern expedition to the southern Weddell Sea, in Feb 2021, a breeding colony of notothenioid icefish (Neopagetopsis ionah, Nybelin 1947) of globally unprecedented extent has been discovered. The colony, at time of survey, covered at least ~240 square kilometres of the eastern flank of the Filchner Trough and was comprised of fish nests at a density of 0.26 nests per square metre, representing an estimated minimum total of ~60 million active nests, and an associated fish biomass of 〉 60,000 tonnes. The majority of nests were each occupied by 1 adult fish guarding 1735 eggs (±433 SD). Bottom water temperatures adjacent to the nests were up to 2 °C warmer than the surrounding bottom waters, indicating a spatial correlation between the modified Warm Deep Water (mWDW) upflow onto the Weddell Shelf and active nesting.

Description: A breeding colony of notothenioid icefish (Neopagetopsis ionah, Nybelin 1947) of globally unprecedented extent has been discovered in the southern Weddell Sea, Antarctica. The colony was estimated to cover at least �240 km2 of the eastern flank of the Filchner Trough, comprised of fish nests at a density of 0.26 nests per square meter, representing an estimated total of �60 million active nests and associated fish biomass of 〉60,000 tonnes. The majority of nests were each occupied by 1 adult fish guarding 1,735 eggs (±433 SD). Bot- tom water temperatures measured across the nesting colony were up to 2�C warmer than the surrounding bottom waters, indicating a spatial correlation between the modified Warm Deep Water (mWDW) upflow onto the Weddell Shelf and the active nesting area. Historical and concurrently collected seal movement data indicate that this concentrated fish biomass may be utilized by predators such as Weddell seals (Lep- tonychotes weddellii, Lesson 1826). Numerous degraded fish carcasses within and near the nesting colony suggest that, in death as well as life, these fish provide input for local food webs and influence local biogeo- chemical processing. To our knowledge, the area surveyed harbors the most spatially expansive continuous fish breeding colony discovered to date globally at any depth, as well as an exceptionally high Antarctic sea- floor biomass. This discovery provides support for the establishment of a regional marine protected area in the Southern Ocean under the Convention on the Conservation of Antarctic Marine Living Resources (CCAMLR) umbrella.

Description: Multibeam data were collected during RV Polarstern cruise PS124 (2021-02-04 to 2021-03-30). Multibeam sonar system was Atlas Hydrographic Hydrosweep DS 3 multibeam echo sounder. Data are processed with Caris HIPS, including sound velocity correction with SV data from CTDs and World Ocean Atlas 13 (https://doi.org/10.7289/v5f769gt), tidal correction with TPXO9_atlas_v5 (https://www.tpxo.net/global/tpxo9-atlas), and manual cleaning. The soundings are combined in daily files, the format is XYZ ASCII (〈Lon〉 〈Lat〉 〈Depth in meters, positive up, relative to mean sea level〉). Additional blockmedian grids have been computed with depth dependent cell size to visualize the data. These grids are not meant for scientific analysis or navigation, but for overview purposes only.