Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Underrepresented populations”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources
PubMedDate not supplied

The role of the architectural environment in community health: an evidence-based initiative.

This discussion reports the status of a 12-year program administered by a statewide health agency to strategically assess, redevelop, and monitor the architectural and facility management performance of its network of community-based public health care facilities. A protocol, the Strategic Facility Improvement initiative, has directly resulted in significant improvements to the major share of a network of over 100 community clinic and clinical support facilities in the State of Louisiana. The SFI initiative provides oversight with respect to the allocation of public health capital improvement infrastructural resources and has guided completion of 55 facility replacement or renovation projects to date. Its administrative mission, organizational structure, and field methodology is presented as a vehicle to significantly improve the architectural condition of clinical and clinical support environments for underrepresented patient populations. The SFI process is discussed as an evidence-based means to foster greater systemic success in capital improvement efforts within public sector health agencies in the United States and in international contexts.

Architecture↗
PubMed2024

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

BACKGROUND: A comprehensive understanding of the genetic basis of rare diseases and their regulatory mechanisms is essential for human molecular genetics. However, the genetic mutant spectrum of pathogenic genes within the Chinese population remains underrepresented. Here, we reported previously unreported functional ABHD12 variants in two Chinese families and explored the correlation between genetic polymorphisms and phenotypes linked to PHARC syndrome. METHODS: Participants with biallelic pathogenic ABHD12 variants were recruited from the Chinese Deafness Genetics Cohort. These participants underwent whole-genome sequencing. Subsequently, a comprehensive literature review was conducted. RESULTS: Two Han Chinese families were identified, one with a compound heterozygous variant and the other with a novel homozygous variant in ABHD12. Among 65 PHARC patients, including 62 from the literature and 3 from this study, approximately 90% (57 out of 63) exhibited hearing loss, 82% (50 out of 61) had cataracts, 82% (46 out of 56) presented with retinitis pigmentosa, 79% (42 out of 53) experienced polyneuropathy, and 63% (36 out of 57) displayed ataxia. Seventeen different patterns were observed in the five main phenotypes of PHARC syndrome. A total of 33 pathogenic variants were identified in the ABHD12. Compared with other genotypes, individuals with biallelic truncating variants showed a higher incidence of polyneuropathy (p = 0.006), but no statistically significant differences were observed in the incidence of hearing loss, ataxia, retinitis pigmentosa and cataracts. CONCLUSIONS: The diagnosis of PHARC syndrome is challenging because of its genetic heterogeneity. Therefore, exploring novel variants and establishing genotype-phenotype correlations can significantly enhance gene diagnosis and genetic counseling for this complex disease.

Humans↗
PubMed1994

Future management opportunities for minorities in managed care.

Current proposals for health care reform emphasize managed care in an effort to achieve universal coverage and access to health care for all Americans. One of the many strategies to achieve this goal is to create a new health care workforce by supporting the recruitment and education of health professionals from population groups underrepresented in health care. To help insure that the managed care industry will be adequately prepared to face the challenges of reform, the Group Health Foundation of the Group Health Association of America, Inc., has crafted an innovative Minority Training Program--a management training program in the field of managed care. The program involves resident fellows who will train in select health maintenance organizations (HMOs) in the Washington, DC/Baltimore metropolitan area. To augment training, the fellows will simultaneously participate in a comprehensive didactic program especially designed to prepare each fellow for a first or middle-management position in an HMO or a similar managed care organization. Following successful completion of the first years in Washington, DC, the program will be broadened to other geographical areas.

Health Facility Administrators↗
PubMedDate not supplied

The evolution of a hospital-based decentralized case management model.

The authors present a case study of a highly integrated case management program and the redefinition of the clinical practice model that evolved across the continuum of care as the integration process was achieved. The central leadership role of the clinical care coordinator (an advanced staff nurse role) as the front-line link between the case manager and the staff nurses was seen as one key in the model's success. Success was further enhanced by: development of objective-based versus time-oriented pathways; involvement of home health earlier, especially in the more complex discharge plans; and a refocus of the patient education process. Future initiatives include refocusing the patient education component as part of a "Steps to Recovery" approach that includes appropriate aspects of the objective-based clinical pathways and expanding the number of case management models to include currently underrepresented patient populations.

Case Management↗
PubMed1999

Home-care use and expenditures among Medicaid beneficiaries with AIDS.

This article compares the use and cost of home-care services among traditional Medicaid recipients with acquired immunodeficiency syndrome (AIDS) and among participants in a statewide Human Immunodeficiency Virus (HIV)/AIDS-specific home and community-based Medicaid waiver program in New Jersey, using Medicaid claims and AIDS surveillance data. Waiver program participation appears to mitigate racial and risk group differences in the probability of home-care use. However, the program's successes are confined to its enrollees of which subgroups of the AIDS population are underrepresented. Our findings suggest the need to expand access to home-care programs to racial minorities and injection drug users (IDUs) with HIV/AIDS.

Acquired Immunodeficiency Syndrome↗
PubMed1988

Representation of the black elderly in Detroit metropolitan nursing homes.

This paper presents the results of an analysis of the distribution of black elderly patients in the long-term care systems of Detroit City, Wayne, and Oakland counties, Michigan. These areas were chosen because of their proximity to Wayne State University and because Detroit has a large black population. Wayne and Oakland counties are largely suburban areas. Black, long-term care utilization was compared with the black elderly representation of the base population in these three locations. The sex-specific distribution between whites and blacks in long-term care populations revealed that black men utilized the greatest amount of long-term care and were more dependent on Medicaid. One hundred twenty-one licensed nursing homes were contacted by telephone and a follow-up questionnaire was sent to the respondents during the five-month study périod.It has been observed nationally that the elderly black population is underrepresented in the long-term care system. The findings obtained in this study, however, are not in agreement with the national trend. In Detroit, the black elderly are represented in nursing homes in approximate proportion to their representation in the larger community.This analysis raises questions of need vs utilization of long-term care by the black elderly in urban areas. This is the first study of black elderly long-term care representation in a specific urban area in the United States.

Black or African American↗
PubMed1997

Analgesia for emergency centers' orthopaedic patients: does an ethnic bias exist?

Several prior studies have demonstrated that Hispanics treated in some emergency centers were prescribed less analgesia than white patients with similar extremity trauma. The purpose of this study was to determine if other institutions had a similar experience with regard to undermedication of certain ethnic groups. Two cohorts were studied, 1 adult and 1 pediatric group. The adult group consisted of 84 patients seen at Maricopa Medical Center, Phoenix, Arizona, between January 1, 1992, and December 31, 1992, who were treated for isolated long bone fractures requiring a closed reduction. The pediatric group consisted of 63 children younger than 16 years, seen between January 1, 1992, and April 30, 1993, with isolated distal radius or ulna fractures requiring a closed reduction. Results indicated that Hispanics were not likely to be undermedicated for fracture reduction in this level I trauma emergency center compared with whites. It is thought that a hospital with a larger populations of underrepresented minorities may be more sensitive than other private institutions.

Adult↗
PubMed1998

Development of a multidisciplinary primary care program at the Drew University of Medicine and Science.

This article describes a required primary care curriculum for all third and fourth year medical students at the Drew/UCLA Medical Education Program. The curriculum is a supplement to the traditional medical school clinical requirements. Key features of the primary care core curriculum in the third year include a weekly half-day multidepartmental continuity clinic in a community health center serving underrepresented minority populations, a weekly didactic conference on primary care and society, a weekly clinical workshop on primary care skills, a weekly case review conference, and an orientation to primary care research methods. Fourth year medical students select a primary care subinternship that extends half days for 10 weeks in a community-based ambulatory care clinic. Fourth-year students also are required to select a mentor and conduct a research project on a primary care topic. Continuity of care records suggest that this program has been successful in allowing medical students to assume primary responsibility for a set of patients and to maintain significant levels of continuity of care over the course of the year. The evolution of the program, problems encountered, and anticipated changes in the curriculum are discussed.

California↗
PubMed2025

Largest-Scale Genomic Resource Reconstructing the Genetic Origin, Population Structure, and Biological Adaptations of the Hui People.

Historical and archaeological records indicate that the Maritime and Land Silk Roads played a pivotal role in facilitating Trans-Eurasian migrations and cultural exchanges. However, the extent to which population movements or the spread of ideas shape Chinese Hui populations remains debated. We present the largest genomic resource to date, including 2,280 Hui individuals sequenced or genotyped from 30 diverse regions, to examine the genetic origins, population structure, and biological adaptations of this underrepresented group in global human genome research. We identified a detailed population structure characterized by five distinct genetic lineages of the Hui, influenced by geography and varying gene flow. The admixture history and demographic events suggest that the northwestern and northern Hui lineages emerged from demic diffusion during the Tang and Yuan Dynasties via the Land Silk Road. In contrast, the southern and island Hui lineages reflect cultural diffusion along the Maritime Silk Road, while the mixed southern-northern lineage likely developed through a combination of demic and cultural diffusion. Our findings support a hybrid model for Hui formation, indicating that both demographic processes and sociocultural transmissions contributed to their population history. We identified east-west highly differentiated variants and pre- and post-admixture adaptations in Hui genomes, demonstrating that admixture-driven adaptive or neutral variants impacted susceptibility to cardiovascular diseases and immune- and diet-related traits. These adaptive signatures include post-admixture signals of SLC24A5 and ECHDC1 in the Hui, as well as pre-admixture signals of the HLA region, BCL2A1, and KCNH8 in the East Asian source. Overall, our study suggests that Han-related genetic components helped the Hui population rapidly adapt to new local environments. Additionally, the frequency spectrum of clinically essential variants differed significantly between Hui and Han individuals, emphasizing the importance of including underrepresented populations in genomic research to promote health equity.

Humans↗
PubMed2003

Rates of refusal to participate in research studies among men and women.

Studies have indicated that, among persons with serious mental illness, women may be less likely to participate in clinical research studies than men. This study examined refusal rates by gender in four recent studies that included persons with a range of diagnoses and that used various interventions and methods. Examination of the four studies indicated that women are no more likely than men to decline to participate in studies but that women may be underrepresented in target populations. When feasible, oversampling may be useful to increase the participation of women or of any other underrepresented demographic group in research studies.

Adult↗
PubMed1992

Mutations in Jewish patients with Gaucher disease.

DNA from 100 unrelated patients, 97 of whom were Jewish and three half-Jewish, was analyzed for 22 mutations known to cause Gaucher disease. All but seven of the alleles were identified as having previously described mutations. Five of the unidentified mutations proved to be a previously undescribed nucleotide substitution in a splice junction (IVS2+1) that causes skipping of exon 2. Thus, only 2 of 197 alleles remained unidentified. Homozygotes for the most common mutation, that a nucleotide (nt) 1226, manifested, on average, the mildest disease and the latest age of onset. The mutation at nt 84 and the newly described IVS2+1 mutation, which do not produce any enzyme, were associated with earlier onset and more severe disease. Five of the mutations were considered to be "public," in the sense that they were found in more than one unrelated individual. Screening for these five mutations permitted detection of 97.5% of all Gaucher alleles in this patient population. Because the mutation at nt 1226 is underrepresented in the patient population and because not all homozygotes come to medical attention, screening the Ashkenazi population using DNA analysis should detect approximately 99% of all heterozygotes.

Alleles↗
PubMed1983

Apartheid and medical education: the training of black doctors in South Africa.

An analysis is presented of the numbers of medical students in South African medical schools and of medical graduates produced annually. The data are analyzed according to ethnic groups. It is shown that gross discrepancies exist, and that black (African) and "Colored" sectors of the population are seriously underrepresented. This pattern is found for the total number of medical students; the ratio of number of medical students in each ethnic group to the total population of that group; the number of medical schools to which blacks may, in terms of the government's apartheid policy, be freely admitted; the absolute numbers of medical graduates drawn from each ethnic group and the percentage of the total number of medical practitioners stemming from each population group; and the ratio of the numbers of medical graduates in each ethnic group to the total population of that group. No matter which yardstick is employed, marked discrepancies are apparent. It is maintained that the separate and inferior schooling system for blacks, under the apartheid policy, is not providing suitably qualified medical student material from the African and "Colored" population groups; and that the State (under which all South African medical schools fall) has not permitted existing medical school facilities to be freely opened for the medical training of blacks, nor has it made available sufficient facilities for the medical training of blacks. It is concluded that the apartheid policy, with its many ramifications at primary, secondary, and tertiary educational levels, has constituted the most serious setback to medical education in southern Africa. It has left medical education in southern Africa over 30 years behind a point where it could and should have been.

Black or African American↗
PubMed1998

Emergency department utilization by adolescents in the United States.

BACKGROUND: Adolescents in the United States have been shown to underutilize primary care services and therefore may rely heavily on emergency service. Although several small studies have explored local emergency services for youth, there are no published reports of adolescent utilization of emergency services on a national scale. Furthermore, emergency services data have not been aggregated according to the age subgroups used by the current guidelines for adolescent care. OBJECTIVE: To explore the utilization of emergency departments in the United States by early (11 to 14 years), middle (15 to 17 years), and late (18 to 21 years) adolescent subgroups. DESIGN: Secondary analysis of the emergency department component of the 1994 National Hospital Ambulatory Medical Care Survey. SETTING: Nationally representative sample of 418 emergency departments in the United States. PATIENTS: Approximately 26,547 visits by patients of all ages, representing 93.4 million total visits in 1994 and 14.8 million adolescent visits. OUTCOME MEASURES: Number of visits, health insurance, reasons for visits, urgency of visits, resulting diagnoses, and hospitalization rates. RESULTS: Adolescents accounted for 15.4% of the population and 15.8% of emergency department visits in 1994. Late adolescents were overrepresented in emergency department visits relative to their population proportion (6.8% of visits, 5.3% of population), whereas early adolescents were underrepresented (4.6% of visits, 5.9% of population). Lack of health insurance was more common among 11- to 21-year-olds (26.2%) than either children (13.6%) or adults (22.7%). By ages 18 to 21 years, 40.5% of male visits and 27.6% of female visits were uninsured. Injury-related visits were more common among adolescents (28.6%) than either children (23.1%) or adults (18.2%). Injury was the leading reason for visits among all adolescent age-sex subgroups (36.6% to 42.0% of male visits and 14.1% to 27.2% of female visits) except females aged 18 to 21 years for whom digestive reasons ranked first (18.8%). Injury was the leading diagnosis for all adolescent age-sex subgroups, with peaks at early adolescence of 61.6% for males and 45.8% for females. Across all adolescent age-sex subgroups, 3.1% to 5.3% of visits resulted in hospitalization, and 41.0% to 52.5% of visits were urgent. These rates did not differ from those of children but were lower than those of adults. CONCLUSIONS: Utilization of emergency departments increases and health insurance decreases during adolescence, suggesting that adolescents with inadequate health insurance may rely heavily on emergency departments for their health care needs. Most adolescent visits to emergency departments are not urgent and might be better treated through nonemergency, primary care sites.

Adolescent↗
PubMed2000

Involving minority and underrepresented women in clinical trials: the National Centers of Excellence in Women's Health.

Recent attention to reducing health disparities among population groups has focused on the need to include in clinical studies, especially clinical trials, participants who represent the diversity of the populations to which study results will be applied. While scientists generally applaud the goal of broadening the characteristics of participants in clinical trials, they are faced with multiple challenges as they seek to include historically underrepresented populations in their research. This article examines the historical and sociocultural context of participation by underrepresented groups, especially women and minorities, in clinical trials, identifies major barriers and challenges facing researchers, and suggests strategies for meeting these challenges. The article draws upon the experiences of the investigators affiliated with the National Centers of Excellence of Women's Health (CoEs).

Clinical Trials as Topic↗
PubMed2004

Identification and characterization of Cu(2)O- and ZnO-binding polypeptides by Escherichia coli cell surface display: toward an understanding of metal oxide binding.

We have used the FliTrx cell surface display system to identify disulfide-constrained dodecapeptides binding to the semiconducting metal oxides Cu(2)O and ZnO. Sequence analysis of the inserts revealed that the two populations exhibit similar, yet subtly different patterns of amino acid usage. Both sets of binders were enriched in arginine, tryptophan, and glycine with a higher degree of positional preference in the case of Cu(2)O binders. Tyrosine, proline, and serine were underrepresented in both populations. Peptides binding electrodeposited Cu(2)O or ZnO with high avidity could be subdivided into two classes based on pI and hydrophilicity. In the hydrophilic and positively charged Class I binders, the Arg-X-X-Arg tetrapeptide appears to be implicated in metal oxide binding, whereas Arg-Arg and Arg-Lys pairs allow for discrimination between Cu(2)O and ZnO. Molecular dynamics simulations of the disulfide-constrained peptides suggest that the aforementioned motifs are important to properly orient two basic residues that are likely to contact the metal oxides. The implications of our results in understanding the rules governing the interaction between peptides and inorganic compounds and in their use for the design of hybrid nanoarchitectures are discussed.

Amino Acid Motifs↗
PubMed2026

Evaluation of the SLC11A1 non-synonymous variant rs17235409 and tuberculosis susceptibility in a multi-ethnic population from southwestern China.

Tuberculosis (TB) remains a major infectious disease burden, and inter-individual heterogeneity in progression from exposure to active disease suggests contributions from host genetic factors. SLC11A1 (formerly NRAMP1) encodes a phagosomal divalent cation transporter implicated in macrophage-mediated antimicrobial defense; the non-synonymous rs17235409 polymorphism (D543N) has been evaluated in multiple populations with inconsistent results. We conducted a retrospective matched case-control study in Qiandongnan, Guizhou Province, China, including 50 patients diagnosed with TB (2022-2023) and 50 healthy controls frequency-matched by ethnicity and selected demographics. Participants were drawn from Miao, Dong, and other minority groups. Among TB cases, the frequencies of the GG, GA, and AA genotypes were 80.0%, 20.0%, and 0%, respectively, compared with 74.0%, 18.0%, and 8.0% among controls. The overall genotype distribution did not differ significantly between the 2 groups (P = .124). Under the dominant model, no significant association was observed between rs17235409 and TB susceptibility (OR = 0.71, 95% CI: 0.28-1.82; P = .635). Allelic analysis showed that the frequency of the A allele was lower in cases than in controls (10.0% vs 17.0%), but this difference was not statistically significant (OR = 0.54, 95% CI: 0.24-1.25; P = .214). Ethnicity-stratified analyses similarly showed no statistically detectable associations in Miao, Dong, or other groups. The minor allele frequency was 0.095, lower than the Han Chinese reference from 1000 Genomes. In this pilot study of multi-ethnic populations from southwestern China, no statistically significant association was identified between the SLC11A1 rs17235409 polymorphism and tuberculosis susceptibility. Although the A allele appeared less frequent among cases, the limited sample size and statistical power preclude definitive conclusions regarding modest or ethnic-specific effects. These findings provide preliminary genetic data from underrepresented ethnic minority populations and warrant validation in larger multicenter studies.

Adult↗
PubMed2026

Single-Cell Proteomics Reveals Proteome Remodeling and Cellular Heterogeneity During NGF-Induced PC12 Neuronal Differentiation.

Single-cell proteomics enables direct measurement of cellular heterogeneity during dynamic biological processes, but its application to fragile and highly adherent neuronal models remains challenging. Here, we developed and applied an optimized single-cell proteomics workflow to characterize proteome remodeling during nerve growth factor (NGF)-induced differentiation of PC12 cells. To enable reliable single-cell analysis, we implemented gentle dissociation, antiaggregation strategies, and thermal inkjet-based cell dispensing, achieving high accuracy in single-cell isolation. Inclusion of n-dodecyl-β-d-maltoside (DDM) improved recovery of membrane-associated and low-solubility proteins. Coupled with LC-ion mobility-mass spectrometry, this workflow enabled quantification of 2,000-3,000 proteins per cell across the differentiation time course. Single-cell proteomic analysis revealed progressive and heterogeneous proteome remodeling during differentiation. While undifferentiated cells formed a relatively homogeneous population, later stages (Days 4-6) exhibited increased variability, including multimodal protein abundance distributions and separation into distinct subpopulations. Dimensionality reduction, clustering, and non-negative matrix factorization identified multiple coexisting proteomic states within the same time points, reflecting asynchronous differentiation trajectories. These subpopulations were characterized by coordinated differences in pathways related to intracellular trafficking, protein translation, cytoskeletal organization, and neuronal maturation. Comparison with bulk proteomics demonstrated that proteins associated with differentiated neuronal states, including those involved in neurite formation and structural remodeling, are underrepresented in population-averaged measurements but are enriched within specific single-cell subpopulations. Temporal and cluster-resolved analyses further revealed distinct protein expression trajectories, including early decreases in cell cycle and metabolic pathways and later increases in neuronal structural and regulatory proteins. Together, this study establishes an optimized workflow for single-cell proteomics of neuronal systems and demonstrates that NGF-induced PC12 differentiation proceeds through heterogeneous and divergent proteomic states that are not resolved by bulk analysis.

Animals↗
PubMed2026

Type 2 diabetes genetics in 125,000 admixed adults from Mexico City.

Type 2 diabetes (T2D) is a highly heritable, polygenic disease with over 600 loci identified through genome-wide association studies (GWAS). However, despite possessing unique genetic variation shaped by demographic history and admixture, Latin American populations remain markedly underrepresented in global genomic research. To address this gap, we conducted genome- and exome-wide analyses of 19,431 T2D cases and 105,611 controls from the Mexico City Prospective Study (MCPS). We identified 86 independent GWAS associations, including 21 novel signals, 15 of which replicated in external cohorts. Risk alleles at novel loci were enriched in individuals with Indigenous American ancestry. Exome analyses revealed rare and ultra-rare missense variants with substantial risk effects at HNF1A and GCK, as well as a protein-damaging variant in SLC30A8 that reduced T2D risk by 45% in carriers. Integrative analyses indicate that T2D genetic architecture in Mexico is predominantly driven by common regulatory variation acting in the endocrine pancreas. Polygenic risk scores strongly stratified T2D risk and transferred to Indigenous Mexican populations. These findings demonstrate the power of large-scale genetic discovery in diverse populations to refine disease architecture and identify loci with potential therapeutic relevance.

Journal Article↗