Ethnic Populations Research Articles

Rise in Autism Spectrum Disorder Diagnoses: A Comparative Analysis of Pre-pandemic and Pandemic Periods.

Introduction This study analyzes the rise in autism spectrum disorder (ASD) diagnoses by comparing pre-pandemic (2017-2019) and pandemic period (2021-2023) data from two private pediatric practices with different populations in New York. The year 2020 was out of the analysis to focus on the impact after the shutdowns on ASD, and there were disruptions in clinic operations during that year. Clinic I primarily served an African-American ethnic population, while Clinic II primarily served an Asian population. Methods A retrospective analysis was conducted using de-identified patient numbers from the electronic medical records (EMR) of two private clinics. Only the numbers of new patients diagnosed each year were included from January 1, 2017, to December 31, 2019 (pre-pandemic), and January 1, 2021, to December 31, 2023 (pandemic). Sixteen ASD International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) codes were included in this analysis. Descriptive and inferential statistics were used to find important patterns and determine statistical significance. Results The study included 537 patients, 182 from Clinic I and 355 from Clinic II. Clinic I demonstrated a significant increase in ASD diagnoses, from 63 (pre-pandemic) to 119 (pandemic) (χ2=17.23; p=0.000033). Clinic II demonstrated a significant increase in ASD diagnoses, from 149 (pre-pandemic) to 206 (pandemic) (χ2=9.15; p=0.00248). Conclusion The significant increase in ASD diagnoses in two private pediatric practices with different populations indicates a notable association with the shutdown periods and the pandemic. Factors such as disrupted routines, changes in access to healthcare services, and increased parental awareness may have contributed to this rise. Further longitudinal studies are needed to understand the long-term impacts of the pandemic on ASD diagnoses and care.

Abstract B120: Understanding Barriers and Facilitators Affecting Participation in Cancer Clinical Research Studies for Racially and Ethnically Diverse Populations in Rural North Carolina

Abstract Increasing representation of minoritized racial and ethnic populations in cancer clinical research studies has been declared a priority in the US for many years. Additionally, it is widely recognized that people living in rural areas of the US have limited access to cancer clinical research studies, and solutions are needed to extend participation opportunities to rural cancer patients. Underrepresentation of minoritized racial and ethnic populations and rural communities perpetuates health inequities, and solutions are needed to remove barriers and implement facilitators for participation. However, a review of existing literature found a lack of attention on the intersection of race and rurality and the needs and values of these populations as it pertains to cancer research. To address this concern, we used a sequential mixed method, community-engaged approach to explore the barriers and facilitators affecting participation in cancer clinical research from the perspectives of cancer survivors and their caregivers, as well as cancer healthcare professionals in rural North Carolina (NC). We used existing publicly available data to identify and characterize four of the most rural, racially and ethnically diverse, and medically underserved counties in NC. The principal investigator collaborated with cancer centers, churches, and American Indian tribal leaders in NC to administer surveys to cancer survivors and caregivers to assess their beliefs and experiences regarding cancer clinical research. Eligible participants included persons who had been diagnosed with cancer or a caregiver of someone diagnosed with cancer. In addition, we conducted key informant interviews with cancer health care professionals providing cancer care in the selected rural NC counties. We analyzed surveys and interview responses with descriptive statistics. Forty-three cancer survivors/caregivers completed surveys and twenty-two cancer healthcare professionals completed semi-structured interviews. Cancer survivors and caregivers indicated that the lack of invitation to participate in cancer clinical research was their greatest barrier to participation, whereas cancer healthcare professionals cited the lack of transportation as the perceived greatest barrier for patients. Cancer survivors, caregivers and healthcare professionals agreed that having support from clinical research personnel would be amongst the most helpful facilitators, along with opportunities to participate in clinical research studies close to home. Cancer healthcare professionals suggested the lack of trust in clinical research was a barrier for their patients; however, cancer survivors and caregivers in this study indicated lack of trust was not a significant barrier to their participation. Recommendations to address barriers and promote facilitators to participation in cancer clinical research include the importance of engaging the community, addressing unconscious bias, decentralizing clinical trials, and providing recruitment materials in culturally responsive formats. Citation Format: Amy Garrett, Karine Dubé, Lisa Spees, Ronny Bell, Marjory Charlot, Sandra Greene. Understanding Barriers and Facilitators Affecting Participation in Cancer Clinical Research Studies for Racially and Ethnically Diverse Populations in Rural North Carolina [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B120.

Abstract B170: Advancing cancer disparities research through the integration of new data: Opportunities from the National Institutes of Health All of Us Research Program

Abstract The NIH All of Us Research Program is building one of the largest, richest, and most diverse health datasets of its kind. The program aims to promote health equity across multiple health conditions including cancer by making a comprehensive and diverse dataset available to over 10,000 vetted and registered researchers on its Researcher Workbench (RW). The RW offers access to various data types including genomics, electronic health records, physical measurements, wearable data, and survey data on social determinants of health (SDOH) and self- reported cancer diagnoses. The latest data release (Q3 2024), also known as the Curated Data Repository (CDR Version 8) includes data from over 630,000 participants, with more than 80% from populations underrepresented in biomedical research (UBR). Racial, ethnic minoritized populations and other underrepresented groups are more likely to experience health-related disparities and inequities. While previous data releases included aggregate categories, new data released in CDR Version 8 considers the interplay of self-identified categories of demographic descriptors and allows the examination of comorbidities, while emphasizing the importance of identifying appropriate comparator groups in research and considering the heterogeneity that exists within and across groups. It includes a 40% increase in array data, a 67% increase in srWGS data, and a 150% increase in long-read sequences, as well as data from expanded EHR sources, DHT devices, a new Life Functioning Survey, and racial and ethnic subcategories for more than 610,000 participants. This vast and diverse dataset release enables the examination of the intersecting impact of SDOH on cancer-related outcomes both within and across racial and ethnic populations, including populations experiencing health-related disparities and inequities. The extensive data release is facilitated by a two-pronged approach: A robust community and participant engagement model and the All of Us Health Equity strategic plan (HESP). The program employs a socioecological model for participant recruitment and retention, specifically targeting UBR groups. This multi-level approach encompasses activities ranging from targeted outreach and awareness campaigns to establishing trust and fostering collaborative partnerships with communities and participants. HESP complements these efforts by promoting the integration of equity considerations across the research lifecycle through the promotion of data equity and data justice. This community engagement and equity integrated approach guarantees that participants who reflect the demographic diversity of cancer patients in the United States and territories are actively engaged in shaping and benefiting from cancer disparities research. This session will update the scientific audience on recent data expansions available to researchers, provide examples of how that data can be used to examine disparities in cancer outcomes and prevention, and demonstrate the importance of community engagement and health equity in advancing research. Citation Format: Karriem S Watson, JoAnn Smith, Nandita Rahman, Ryan Lupi, Rubin Baskir, Romuladus Azuine, Janeth Sanchez. Advancing cancer disparities research through the integration of new data: Opportunities from the National Institutes of Health All of Us Research Program [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B170.

Abstract B111: A needs assessment of genetic and hereditary breast cancer awareness in Southern California women diagnosed with a genetic mutation

Abstract Background: Breast cancer is a global public health dilemma, considering the public awareness the issue has garnered over the years it continues to be diagnosed in advanced stages. Genetic mutations can increase the risk of developing breast cancer. Literature findings have identified the lack of knowledge surrounding genetic breast cancer susceptibility. Methods: In partnership with Southern California Chapter of The Breasties (SoCal Breasties), an all inclusive nonprofit organization that creates a community for survivors, previvors, thrivers, and caregivers impacted by breast and gynecological cancers, 20 women with a breast cancer related genetic mutation diagnosis were surveyed in a cross-sectional study to determine the need for health education on breast cancer genetic susceptibility. Of the 20 women surveyed, the racial/ethnic identities of the respondents is as follows: 10% identified as Asian American/Pacific Islander; 5% identified as Black; 35% identified as Hispanic/Latinx; 5% identified as “Mixed Race: Black, White”; 40% identified as White; and 5% identified as Ashkenazi Jewish, White. Results: 70% of survey respondents identified not having adequate knowledge of genetic breast cancer susceptibility prior to diagnosis. When looking at racial and ethnic groups, Black, Hispanic/Latinx, and Asian American/Pacific Islander women made up 71% of the population that lacked proper knowledge of the topic when compared to their white counterparts. 75% identified health education as the most needed resource for genetic breast cancer susceptibility. When asked to share one piece of insight, the most common sentiment expressed was “Knowledge is Power.”Conclusions: There is a need for greater health education on genetic breast cancer susceptibility, especially in racial and ethnic minority populations. Health educators and public health professionals should consider generating awareness campaigns and partnering with community based organizations to disseminate proper knowledge. In addition, resources and awareness campaigns should be culturally tailored and linguistically appropriate to meet the needs of all racial and ethnic groups. Citation Format: Dayanara Ruiz. A needs assessment of genetic and hereditary breast cancer awareness in Southern California women diagnosed with a genetic mutation [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B111.

The capacity of primary school inclusive teachers meets the requirements of the 2018 general education program

The profession of integration teaching is currently receiving considerable attention. The competency framework for teachers is assessed based on the 2018 General Education Program (GEP), which emphasizes the development of students' personal competencies and sets new competency requirements for teachers. This program provides detailed guidelines for teaching and learning in the modern era. The objective of this study is to evaluate the extent to which teachers' training and teaching competencies align with the 2018 GEP. The present study surveyed 611 primary school integration teachers across 32 schools serving disabled students in five provinces and cities within Vietnam. In this study, an assessment of teachers' competencies in various aspects of education and teaching was conducted. The results revealed high levels of proficiency among teachers in assessing and nurturing students' qualities and competencies, as well as in devising pedagogical strategies to enhance students' inherent capabilities. The limited language proficiency, particularly in local and foreign languages, has significant implications for ethnic minority students, who rely on native language instruction for effective learning. This limitation hinders the implementation of the 2018 GEP, especially in regions with a high density of ethnic minority populations. Additionally, teachers showed proficiency in creating safe and culturally educational environments and establishing relationships among students, teachers, and parents. Nevertheless, collaboration with families and communities to achieve educational goals exhibited lower competency levels. Furthermore, teachers demonstrated capabilities in researching and updating subject knowledge, along with supporting colleagues in developing professional competencies. The study also explored stakeholders' perceptions regarding educational practices, indicating varying levels of correctness in responses. This study significantly contributes to the evaluation of current primary school teacher competencies and offers valuable data for school managers, administrators, and teachers to gain a more holistic understanding of this matter.

Developing a Dietary Questionnaire for Rural Mexican Americans.

Latinos form the largest ethnic population in the United States (18.5%), and the majority are Mexican Americans (61.4%). Many Mexican Americans have unique dietary behaviors, yet few food frequency questionnaires explicitly define Mexican American diets. The objective of this work was to engage with a population of rural Mexican Americans to develop a Mexican American food frequency questionnaire. Because acculturation is linked to dietary intake, we also examined acculturation by diet. We used mixed methods with three phases: (1) a qualitative phase in which a sample of rural Mexican-Americans (N = 15) identified and provided rich data about foods they ate; (2) a developmental phase in which 4day food records were completed sequentially by two new and different samples of Mexican Americans (N = 19); and 3) a preliminary assessment phase where a new sample of Mexican Americans (N = 49) completed the final food frequency questionnaire. The final questionnaire included many traditional Mexican foods and beverages identified by study participants as part of their typical diet. Traditional Mexican foods and beverages were consumed regularly; little variation in diet was seen by level of acculturation. Respondents perceived diets containing commercial sugar-sweetened beverages as unhealthful, but not those with traditional Mexican drinks, which may represent an unappreciated source of added sugar in the diet. Future work includes studies examining dietary patterns in other urban and rural communities with traditional Mexican diets.

Outcomes by Race and Ethnicity Following a Medicare Bundled Payment Program for Joint Replacement

The Comprehensive Care for Joint Replacement (CJR) model, a traditional Medicare bundled payment program for lower-extremity joint replacement, is associated with care for patients outside traditional Medicare. Whether CJR model outcomes have differed by patient race or ethnicity outside of traditional Medicare is unclear. To evaluate outcomes associated with the CJR model among Hispanic patients not enrolled in traditional Medicare. This cohort study used hospitalization data from California's Patient Discharge Dataset for all patients who underwent lower-extremity joint replacement in California between January 1, 2014, and December 31, 2017. In California, 3 metropolitan statistical areas (MSAs) were randomly selected to participate in CJR in April 2016. Hospitals not participating in other Medicare Alternative Payment Models were included in the treated group if they were in these 3 MSAs and in the control group if they were in the remaining 23 MSAs. The data analysis was performed between October 1 and December 31, 2023. Comprehensive Care for Joint Replacement program implementation. The main outcomes were hospital length of stay and home discharge rates by race and ethnicity. Home discharge status included self-care, the use of home health services, and hospice care at home. Event study, difference-in-differences, and triple differences models were used to estimate differential changes in health care service use by race and ethnicity for patients in the treated MSAs compared with the control MSAs before vs after CJR implementation. Of 309 834 hospitalizations (patient mean [SD] age, 68.3 [11.3] years; 60.6% women; 14.8% Hispanic; 72.4% non-Hispanic White), 48.0% were in treated MSAs and 52.0% in control MSAs. The CJR program was associated with an increase in home discharge rates for patients without traditional Medicare coverage; however, the increase differed by patient race and ethnicity. The increase was 0.05 (95% CI, 0.02-0.08) percentage points higher for Hispanic patients with Medicare Advantage and 0.03 (95% CI, 0.01-0.04) percentage points higher for Hispanic patients without Medicare compared with their non-Hispanic White counterparts. This cohort study shows that CJR program outcomes differed by race and ethnicity for patients covered outside traditional Medicare, with home discharge rates increasing more for Hispanic compared with non-Hispanic White patients. These findings suggest the importance of considering differential outcomes of Medicare payment policies for racial and ethnic minority patient populations beyond the initially targeted groups.

Racial and Ethnic Differences in the Prevalence of Severe Aortic Stenosis by Echocardiography.

Understanding the burden of aortic stenosis (AS) across diverse racial and ethnic populations is important to ensure equitable resource allocation. This study explored whether severe AS rate varies by race and ethnicity. The rates of severe AS, stratified by race and ethnicity, were calculated among 615,038 adults with a transthoracic echocardiogram. Logistic regression analysis was performed to identify factors associated with severe AS. Severe AS rates ranged from 0.08% in adults < 50 years old to 3.8% in those ≥ 90 years old. Compared to non-Hispanic White and Asian American [adjusted odds ratio (aOR) = 0.47, 95% confidence interval (CI): 0.42-0.53] and non-Hispanic Black (aOR = 0.44, 95% CI: 0.39-0.50) patients were less likely to have severe AS, whereas Hispanic patients (aOR = 0.91, 95% CI: 0.87-0.98) had near similar likelihood. Age was the strongest risk factor for severe AS (compared to age < 50 years, aOR = 21.8, 95% CI: 17.8-26.6 for age 80-89 years, and aOR = 43.8, 95% 35.5-54.0 for age ≥ 90 years). Additional factors associated with severe AS included male sex (aOR = 1.38, 95% CI: 1.30-1.46) and diabetes (aOR = 1.23, 95% CI: 1.15-1.31). Asian American and non-Hispanic Black adults had lower rates of severe AS compared to White and Hispanic patients. The rate of severe AS progressively increases with age in all racial and ethnic groups, with higher rates in men compared with women. With a demographic shift toward an aging and more diverse population, the burden of AS is anticipated to rise. Ensuring adequate allocation of resources to meet the evolving needs of a diverse population remains a shared health care imperative.

PSLBII-12 Cloning and analysis of target-specific CRISPR RNA and screening primers to create β-lactoglobulin knock-out goat fibroblast cell lines for nuclear transfer

Abstract Goat milk and meat are primary or additional source of income for small farmers in large parts of the world. Goat farming is increasing in southeastern United States, due to influx of ethnic populations. Goat milk is rich in health promoting nutrients compared with other livestock milk; however, its consumption results in allergenicity in humans due to presence of β-lactoglobulin protein in milk. Although some efforts have been made to eliminate allergenicity by modifying β-lactoglobulin gene, especially in Chinese goats, more research is needed to make it a reality. The objective of this study was to design, clone and characterize CRISPR RNA (crRNA) in a plasmid vector containing Cas 9 expression cassette as well as design and analyze PCR primers for efficient screening of edited genomes as a prelude to create and analyze β-lactoglobulin knock-out goats. Three crRNAs, two from exon 1 and one from exon 2 of goat β-lactoglobulin gene with 5 base hangovers were designed and cloned individually in GeneArt CRISPR Nuclease plasmid Vector. Sequence analysis of selected plasmid clones using U 6 promoter primer, upstream of the crRNA insert, confirmed that at least 3 clones of each crRNA had the right sequence. Additionally, 4 sets (forward and reverse) of primers to amplify 4 loci in β-lactoglobulin gene flanking the crRNA sequences in goat genome were designed. PCR amplification using genomic DNA isolated from goat blood as well as goat skin fibroblasts (GSF) confirmed expected single bands of 655, 812, 502 and 437 bps with respective primer sets. Transfection of 3 crRNA clones in GSF cells and their analysis for site-specific genome modification is in progress. In conclusion, we have designed, cloned, and tested crRNA in a plasmid vector along with 4 sets of PCR primers to screen for edited genomes which will be useful to create β-lactoglobulin edited goats to eliminate milk allergenicity.

Impacts of DROSHA (rs10719) and DICER (rs3742330) Variants on Breast Cancer Risk and Their Distribution in Blood and Tissue Samples of Egyptian Patients.

MicroRNAs (miRNAs) are small, noncoding RNAs that regulate gene expression and play critical roles in tumorigenesis. Genetic variants in miRNA processing genes, DROSHA and DICER, have been implicated in cancer susceptibility and progression in various populations. However, their role in Egyptian patients with breast cancer (BC) remains unexplored. This study aims to investigate the association of DROSHA rs10719 and DICER rs3742330 polymorphisms with BC risk and clinical outcomes. This case-control study included 209 BC patients and 106 healthy controls. Genotyping was performed using TaqMan assays in blood, tumor tissue, and adjacent non-cancerous tissue samples. Associations were analyzed using logistic regression and Fisher's exact test. The DROSHA rs10719 AA genotype was associated with a 3.2-fold increased risk (95%CI = 1.23-9.36, p < 0.001), and the DICER rs3742330 GG genotype was associated with a 3.51-fold increased risk (95%CI = 1.5-8.25, p = 0.001) of BC. Minor allele frequencies were 0.42 for rs10719 A and 0.37 for rs3742330 G alleles. The risk alleles were significantly more prevalent in tumor tissue than adjacent normal tissue (rs10719 A: 40.8% vs. 0%; rs3742330 G: 42.7% vs. 0%; p < 0.001). However, no significant associations were observed with clinicopathological features or survival outcomes over a median follow-up of 17 months. In conclusion, DROSHA rs10719 and DICER rs3742330 polymorphisms are associated with increased BC risk and more prevalent in tumor tissue among our cohort, suggesting a potential role in miRNA dysregulation during breast tumorigenesis. These findings highlight the importance of miRNA processing gene variants in BC susceptibility and warrant further validation in larger cohorts and different ethnic populations.

The causes of Ukrainian Famine Mortality, 1932-33

Abstract We construct a novel panel dataset for interwar Soviet Union to study the causes of Ukrainian famine mortality (Holodomor) during 1932-33 and document several facts: i) Ukraine produced enough food in 1932 to avoid famine in Ukraine; ii) 1933 mortality in the Soviet Union was increasing in the pre-famine ethnic Ukrainian population share and iii) was unrelated to food productivity across regions; iv) this pattern exists even outside of Ukraine; v) migration restrictions exacerbated mortality; vi) actual and planned grain procurement were increasing and actual and planned grain retention (production minus procurement) were decreasing in the ethnic Ukrainian population share across regions. The results imply that anti-Ukrainian bias in Soviet policy contributed to high Ukrainian famine mortality, and that this bias systematically targeted ethnic Ukrainians across the Soviet Union.

Adelola Adeyole (1935-2021): Early descriptor of congenital dermoid or epidermoid inclusion cyst over the anterior fontanelle and below the galea aponeurotica.

The author wished to detail the life and contributions of Dr. Adelola Adeloye, MBBS, MS, FWCS, FRCS, FACS, FRCP, in hope to pay homage to this giant in Global Neurosurgery. Dr. Adelola Adeloye was born on July 18, 1935 in Illesa, Osun State, present-day South-West Nigeria. The Adeloye-Odeku disease is an eponym for a congenital dermoid or epidermoid inclusion cyst (CDIC/CEDIC) over the anterior fontanelle and below the galea aponeurotica. In 1971, Adeloye and Odeku first described these cysts in 18 Nigerian patients. While overall rare and predominantly noted in children, the Adeloye-Odeku disease has been found to impact adults too. In terms of rarity, CDICs make up 0.1-0.5% of cranial tumors and 0.2% of inclusion cysts. CDICs can be distinguished from CEDICs through histopathology as dermoid cysts may contain hair follicles, sweat, sebaceous glands, and teeth, whereas CEDICs usually are only composed of keratinized debris and epidermal tissue. Assumed first to be an African cyst, cases of the Adeloye-Odeku disease were subsequently reported in other ethnic populations: Turkish, Czechs, Slovaks, Chinese, Japanese, Canadians, Saudi Arabians, Indians, Caucasians, Bangladeshis, Spaniards, and Brazilians.

The Gypsy condition in Kiskunhalas: work, consumption, and indebtedness after socialism

ABSTRACT The article outlines the recent history of the Gypsy minority in the town of Kiskunhalas, Bács-Kiskun county, with an emphasis on its changing economic situation. Gypsy households benefited from secure employment until the late 1980s. Some of them were able to profit from the embourgeoisement opportunities available to all citizens in the socialist mixed economy. Under postsocialist conditions, however, most Gypsies face uncertainty and hardship in everyday life. Theoretically, the article engages with the work of Michael Stewart, who has argued that the demise of socialism and the replacement of central planning and compulsory wage-labour by the freedoms of market society brought opportunities for Gypsies to prosper economically, as well as to reassert a cultural identity which had been stymied for decades. I argue that this libertarian perspective overlooks the very real disadvantages that most members of the minority experienced after 1990, and which they have continued to experience in different forms under Fidesz-led governments since 2010. Like the poorest segments of the ethnic Hungarian population, Gypsies are exposed to neoliberal capitalism in its distinctive postsocialist populist form. The article concludes with an exploration of everyday financialization: indebtedness entrenches class differences and has negative consequences for persons, households and communities.

The Spectrum of Self-Limited Infantile Epilepsy Syndromes

AbstractInfantile epilepsy syndromes' nomenclature has changed over time. The International League Against Epilepsy (ILAE) revised its 2021 classification and definition of epilepsy syndromes in neonates and infants, replacing the term “benign” with “self-limited,” and now identifies them as “self-limited infantile epilepsy” (SeLIE). SeLIE is characterized by seizures that begin during infancy and resolve spontaneously with normal developmental progress. The recognition of infantile seizures with favorable outcomes dates back more than 60 years, as noted by Fukuyama in Japan. Thirty years later, Watanabe et al reported benign focal seizures in infancy, with the majority of cases being nonfamilial. These seizures' self-limited nature during infancy has since been acknowledged in various countries, spanning diverse ethnic populations beyond Japan. Infants who undergo such seizures are now recognized as having self-limited nonfamilial infantile epilepsy (SeLNFIE). Initially, Vigevano et al detailed the familial variant in five infants, coining the term “benign familial infantile seizures” to characterize this condition, now known as self-limited familial infantile epilepsy (SeLFIE). SeLNFIE and SeLFIE may present similarly with the exception of a positive family history. After the initial description and classification of these syndromes (familial and nonfamilial) in the ILAE's 1989 Classification of Epilepsies and Epileptic Syndromes, several less frequently encountered related syndromes have been recognized. These conditions comprise a spectrum including SeLFIE with choreoathetosis and paroxysmal dyskinesia, now termed infantile convulsions with paroxysmal choreoathetosis syndrome (ICCA); self-limited focal epilepsy in infancy with midline spikes and waves during sleep (SeLIMSE); self-limited infantile seizures with mild gastroenteritis (SeLISwG); SeLFIE associated with familial hemiplegic migraine (FHM); and self-limited familial neonatal-infantile epilepsy (SeLFNIE). This review aims to document the prevalence of these SeLIEs, elucidate their unique characteristics, and underscore their self-limited nature.

Racial and Ethnic Disparities in Autologous Hematopoietic Cell Transplantation Utilization in Multiple Myeloma Have Persisted Over Time Even After Referral to a Transplant Center

Despite the use of autologous hematopoietic cell transplantation (AHCT) in treatment of multiple myeloma (MM) for almost 40 years and its persistence as standard of care in transplantation-eligible patients with MM even after the advent of novel agents, AHCT remains underutilized, especially in racial and ethnic minority populations. As part of a multipronged effort to quantify disparities in AHCT utilization in MM by race and ethnicity and over time in our own cancer center, we conducted an institutional review of all new patients seen at an academic transplant center for consultation for MM between 2012 and 2022, to calculate AHCT utilization and investigate the factors associated with AHCT utilization. Race and ethnicity were self-reported. Baseline characteristics were analyzed in 3 groups: non-Hispanic White (NHW), non-Hispanic Black (NHB), and Others. Reasons for not undergoing AHCT in the EHR were recorded. Multivariate analyses evaluated the effect of group on AHCT utilization, controlling for covariates related to patients not undergoing AHCT by overall cohort and consult period. Of the 1266 patients, 13.4% were NHB. The median age at consult was 66 (IQR, 23-97) years overall, 66 (IQR, 23-97) years for NHWs, 63 (IQR, 25-85) years for NHBs, and 59.5 (IQR, 31-79) years for Others (P < .01). AHCT utilization was 76% overall, 64.7% in NHBs, 76.8% in Others, and 77.8% in NHWs (P < .01). Age, cytogenetics, stage, comorbidities, and time from diagnosis to consult were associated with receipt of AHCT. From 2012-2017 to 2018-2022, NHB AHCT utilization increased from 57.5% to 69.8% (P = .10). For those who did not receive AHCT, patient preference, older age, comorbidity, early mortality, and lack of caregiver support were the most frequently documented reasons. The NHW group had greater AHCT utilization compared to the NHB group (odds ratio [OR], 3.32; 95% confidence interval [CI], 2.17-5.08; P < .0001). Absent cardiac (OR, 1.88; 95% CI, 1.35-2.62; P = .0002) or renal comorbidity (OR, 3.23; 95% CI, 2.03-5.15; P < .0001) was associated with receipt of AHCT. Older age at consult (OR, .89; 95% CI, .87-.90; P < .0001) and longer time from diagnosis to consult (OR, .97; 95% CI, .95-.98; P < .0001) were associated with lower AHCT utilization. While AHCT utilization increased from 2012-2017 to 2018-2022 in NHBs compared to NHWs, it remained significantly lower. Racial and ethnic AHCT underutilization has improved over time, but disparities persist. Younger age at consult, shorter time from diagnosis to consult, and lack of cardiac and renal comorbidities also are associated with AHCT utilization.

Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort

PurposeThe genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity, remains largely unexplored. Here, we aim to elucidate genomic insight from a 576 person well-phenotyped and highly consanguineous (16%) NDD cohort. MethodsWe used chromosomal microarray (CMA; N:247) and exome sequencing (ES; N:127) combined CMA, ES (N:202), and long-read genome sequencing to identify genetic etiology. Deep clinical multivariate data were coupled with genomic variants for stratification analysis. ResultsGenetic diagnosis rates were 17% with CMA, 29.92% with ES, and 37.13% with combined CMA and ES. Notably, children of consanguineous parents showed a significantly higher diagnostic yield (P < .01) compared with those from nonconsanguineous parents. Among the ES-identified pathogenic variants, 36.19% (38/105) were novel, implicating 35 unique genes. Long-read sequencing of seizure participants unresolved by combined test identified expanded FMR1 trinucleotide repeats. Additionally, we identified 2 recurrent X-linked variants in the G6PD in 3.65% (12/329) of NDD participants. These variants were absent in large-population control cohorts and cohort comprising neurodevelopmental and neuropsychiatric populations of European descendants, indicating a possible associated risk factor potentially resulting from ancient genetic drift. ConclusionThis study unveils unique clinical and genomic insights from a consanguinity rich Bangladeshi NDD cohort, highlighting a strong association of G6PD with NDD in this population.

119 Addressing inequalities in participation: Developing an inclusive sport and physical activity system across Wales, UK

Abstract Purpose Sport and physical activity participation rates remain low and are particularly apparent in areas of deprivation, among girls and women, those with a disability and minority ethnic populations. In collaboration with Sport Wales (the Welsh Government sponsored body for sport in Wales), this project seeks to facilitate the development of an inclusive sport and physical activity system. Its aim is to identify key organisations and potential leaders where participation in sport and physical activity is low and engage them in finding solutions to these challenges. A specific objective of the project is to use insight and engagement from under-represented groups to drive physical activity and sport participation, amongst children and young people, forwards. Project description The project, undertaken in two phases, was commissioned by Sport Wales. It commenced in September 2023 and is due to finish in late 2024. Phase one includes a social network analysis via an online survey to map the existing sport and physical activity network in Wales. Both a formal and informal distribution strategy for the survey was adopted. The survey seeks to ensure sufficient responses to map the network of key stakeholders and identify previously unknown organisations and individuals. The mapping should enhance our understanding of the current network and identify potential new leaders. Phase two includes the development of a national stakeholder engagement group, made up of the organisations and individuals identified in phase one. This group will act as an advisory group to Sport Wales and produce an engagement plan to inform more effective strategies to target inequalities and under-representation in sport and physical activity participation. A process evaluation is embedded into the project. Conclusions and implications Identifying the organisations and leaders in sport and physical activity in areas where participation is low, and actively engaging them in a leadership group reflects a new approach. It demonstrates a commitment by a national organisation to foster collaboration and seek alternative solutions. The project has the potential to be innovative by developing new ways of working and providing solutions to address ongoing and significant challenges in sport and physical activity participation.

An in vitro and in silico antidiabetic approach of GC–MS detected friedelin of Bridelia retusa

Bridelia retusa is a medicinal plant widely used to treat diabetes by ethnic populations worldwide, has been subjected to GC–MS-based profiling for the bark and fruit and identified 96 phytochemicals using ethyl acetate and methanol solvents. The DPPH antioxidant assay recorded that methanolic fruit extract had a maximum antioxidant activity of 83.01 % (IC50-103.03 µg/ml). The α-amylase inhibition activity was found maximum in ethyl acetate bark extract with 76.34 % (127.37 µg/ml), while methanolic fruit extract exhibited the highest α-glucosidase inhibition activity with 86.18 % (106.15 µg/ml). Subsequently, we have compared the antidiabetic potential for 3 pharmacologically significant bioactive constituents friedelin, imidazole & sylvestrene through docking and drug likeliness study and found friedelin has a maximum binding affinity with different protein targets followed by sylvestrene and is most suitable candidate for drug development for hyperglycemia. Molecular dynamics simulations revealed friedelin as the most stable binder to anti-diabetic target proteins, with notable structural insights provided by RMSD, RMSF, SASA, and PCA analyses. MM-PBSA calculations emphasized the significance of various energies with the α-amylase-Friedelin complex exhibiting the highest binding energy.

Why continuing education and professional development trainings for Black and Minority Ethnic groups (BAME) is not translating into career progression, economic growths and bridging the employment gap in the national workforce in UK

The research objective of this study is to understand why continuing education and professional development (Lifelong Learning) the UK has not delivered the expected career advancement, economic returns and closing on the employment gap for Black and Minority Ethnic (BAME) population. Nevertheless, much funding has been put into such educational programs to improve the condition of the BAME community for career mobility and economic prospects, they remain prejudiced nevertheless. The purpose of this research will be to establish the causes of these disparities with particular emphasis on the system influences as well as the efficiency of the established CPD programmers. The research method of this study is of mixed nature, while qualitative study is followed by the quantitative one. The data was generated through Q&lt;|reserved_special_token_266|&gt; energy questionnaire survey and interviews conducted with BAME professional participants of CPD programs. Second, secondary data were collected from the governmental and organizational reports on diversity in the workforce and career advancement. in qualitative data were coded and categorized to explore the experiences of BAME people as well as measures of central tendency and dispersion were used on quantitative data in order to understand trends and co-relations. The study reveals several key outcomes: Fixed preconceptions arising out of race, scant opportunity to interact professionally, and lack of BAME personnel in dominant organizational positions ensure that BAME learners cannot advance further in their careers despite enrolling in CPD programmers. It has been established that the CPD programs are not very effective, the BAME candidates complained that the training does not make them earn a better position or get a salary increment like the white counterparts. Further, the study reveals that culture and organizations barriers and gates are among the barriers to complete inclusion and effectiveness of CPD BAME employees in their workplaces. The results have various implications for the policy-makers, educators and employers. Therefore, the current study’s findings are particularly important for policymakers to support more effective and sensitive policy measures to help BAME populations in the workplace. The authors recommend that educational institutions need to carry out changes in the content and the delivery of the CPD programs, such that they are appropriate for the BAME participants. Companies are encouraged to come up with better policies on how best to mainstream employees’ ethnicity, and how the promotion policies can be made fair and inclusive. The Authors therefore argue that while the acquisition of continuing, education and professional development are most important in career advancement, they are not in themselves adequate to either close the employment division or foster economic opportunity for BAME people in the UK. There is, therefore, a need for reforms at the system level to remove the social factors that act as hurdles to the actualization of these learning programs by BAME workers. Based on the study, the following policies, collaborative professional development, and organizational development solutions are proposed.

Efficacy and safety of intravenous ketamine treatment in Japanese patients with treatment-resistant depression: A double-blind, randomized, placebo-controlled trial.

Although the antidepressant effect of ketamine on treatment-resistant depression (TRD) has been frequently reported in North American and European countries, evidence is scarce among the Asian population. We aimed to evaluate the efficacy and safety of intravenous ketamine in Japanese patients with TRD. In this double-blind randomized placebo-controlled trial, 34 Japanese patients with TRD were randomized to receive either intravenous ketamine (0.5 mg/kg) or placebo, administered over 40 min, twice a week, for 2 weeks. The primary outcome was the change in the Montgomery Åsberg Depression Rating Scale (MADRS) total score from baseline to post-treatment. Secondary outcomes included changes in other depressive symptomatology scores and remission, response, and partial response rates. We also examined the association between baseline clinical demographic characteristics and changes in the MADRS total score. Intention-to-treat analysis indicated no significant difference in the decrease in MADRS total score between the groups (-8.1 ± 10.0 vs -2.5 ± 5.2, t[32] = 2.02, P = 0.052), whereas per-protocol analysis showed a significant reduction in the ketamine group compared to the placebo group (-9.1 ± 10.2 vs -2.7 ± 5.3, t[29] = 2.22, P = 0.034). No significant group differences were observed in other outcomes. Adverse events were more frequent in the ketamine group than in the placebo group, and no serious adverse events were reported. A higher baseline MADRS total score and body mass index were associated with a greater reduction in the MADRS total score. Intravenous ketamine outperformed placebo in Japanese patients with TRD who completed the study, suggesting that ketamine could alleviate depressive symptoms of TRD across diverse ethnic populations.