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1.
MSMR ; 31(2): 9-15, 2024 02 20.
Artículo en Inglés | MEDLINE | ID: mdl-38466970

RESUMEN

Uterine fibroids are the most common benign tumors of the uterus among women of reproductive age, disproportionally affecting non-Hispanic Black women compared to other races and ethnicities. This report is an update of a 2011 MSMR report that examined uterine fibroids among female active component service members in the U.S. Armed Forces from 2001 to 2010. Incident uterine fibroids were identified for this report from inpatient and outpatient medical encounter data from 2011 to 2022. Health care burden was estimated utilizing uterine fibroid-related inpatient and outpatient diagnostic and procedure codes. Crude incidence rates and incidence rate ratios were calculated to compare rate differences between subpopulations. A total of 16,046 new uterine fibroid cases were identified, with an incidence rate of 63.5 cases per 10,000 person-years (95% confidence interval: 62.5-64.5). The highest incidence rates were observed among service women 40 years and older, non-Hispanic Black women, and those who served in the Army. Health care burden analysis showed that, even with increases in medical encounters and individuals affected, the numbers of hospital bed days declined over time. The decline in uterine fibroid-related hospital bed days could be attributed to early diagnoses and minimally-invasive treatments. Continued promotion of uterine fibroid awareness can potentially help further reduce uterine fibroid-related impacts on military readiness.


Asunto(s)
Leiomioma , Personal Militar , Neoplasias Uterinas , Femenino , Humanos , Incidencia , Carga del Cuidador , Leiomioma/epidemiología , Neoplasias Uterinas/epidemiología
2.
J Cosmet Dermatol ; 22(12): 3237-3240, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37944932

RESUMEN

Patient expectations in cosmetic dermatology exhibit significant variations across countries, cultures, and ethnicities, thereby reflecting individual desires, concerns, and goals. While some individuals seek aesthetic enhancements, others prioritize addressing specific skin conditions within the context of beauty norms in their respective countries. The provision of personalized and culturally sensitive care plays a crucial role in meeting these diverse expectations. Skin characteristics and concerns differ among ethnicities, influencing treatment preferences. For instance, individuals with darker skin tones may prioritize the treatment of pigmentation disorders, whereas those with lighter skin tones may focus on achieving a fair complexion. Furthermore, differences in facial anatomy among various ethnicities necessitate tailored treatment approaches. This commentary aims to contribute to the effective understanding and management of patient expectations, ultimately leading to satisfactory outcomes. Additional research and regional studies are required to further deepen our understanding of patient expectations in cosmetic dermatology and enable the delivery of improved and culturally appropriate care on a global scale.


Asunto(s)
Técnicas Cosméticas , Dermatología , Humanos , Comparación Transcultural , Motivación , Belleza , Estética
3.
Eur J Surg Oncol ; 49(12): 107109, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37866153

RESUMEN

OBJECTIVES: To perform a qualitative systematic review exploring the influencing factors within the surgical decision-making (SDM) processes following a breast cancer diagnosis in non-caucasian women globally. STUDY DESIGN: Qualitative systemic review following PRISMA guidelines. METHODS: A comprehensive search strategy was applied to four databases. 5243 papers were screened using a composed inclusion and exclusion criteria resulting in 10 total papers to be included. These papers underwent JBI quality assessment and ConQual assessment to ensure strength in validation, reliability, and quality. RESULTS: Six main overarching themes relating to SDM were determined: fear, information, patient-doctor relationship, wellbeing, external influences, and culture. All ethnicities experienced fear in one way. Misinformation was widely experienced in concordance with either a lack of education (Iranian and Ghanian women) or language barriers (immigrant populations). Trust was overarching in all patient-doctor relationships, some being overshadowed by an authoritative dynamic in Ghanian and Iranian women. Well-being, both psychological and body image was noted in all but the Ghanian and Iranian women. Every ethnicity experienced external influences involving either others, time or cost. Lastly, cultural expectations and beliefs of the doctor was present in all native or immigrant Asian communities. CONCLUSIONS: The study identified several factors which were common between ethnicities, notably multifactorial fear, well-being factors, opinions and trust of others, and timing. Conversely, information availability and the nature of patient-doctor relationships varied widely between ethnicities. The study has identified some realistic and achievable focus areas for practice improvement, but also notes the challenges of changing long-established cultural norms.


Asunto(s)
Neoplasias de la Mama , Humanos , Femenino , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/psicología , Irán , Reproducibilidad de los Resultados , Investigación Cualitativa , Etnicidad
4.
Vector Borne Zoonotic Dis ; 23(9): 458-464, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37566524

RESUMEN

Background: There are few reports of tick-borne pathogens infecting dogs living in indigenous communities of Brazil. Herein, we aimed to molecularly detect vector-borne pathogens in dogs from two indigenous communities in the Brazilian Amazon. Materials and Methods: We surveyed 327 dogs raised in Amazon region at 2 distinct indigenous ethnicities for the molecular detection of tick-borne pathogens (114 from Tapirapé and 213 from Karajá indigenous ethnicity). Whole blood samples were subjected to PCR and sequencing for Ehrlichia, Babesia, and Hepatozoon. Univariate and multivariate analyses were used to investigate the factors affecting the pathogen infection patterns in dogs. Results: Among the 327 blood samples, 40 were positive for Ehrlichia canis (12.2%), 2 for Anaplasma platys (0.61%), and 204 were positive for Hepatozoon canis (66.5%). Binary Logistic Regression showed association between E. canis infection and ethnicity (p = 0.010) and tick attachment (p = 0.041). Karajá dogs were 3.4 times (95% CI 1.3-8.5) more likely to be positive for E. canis than Tapirapé dogs. Dogs with ticks were 2.5 times more likely (95% CI 1.0-7.6) to be positive for E. canis than dogs without ticks. Conclusions: Our survey expands the knowledge regarding the presence of vector-borne pathogens in dogs from indigenous communities in the Amazon region.


Asunto(s)
Enfermedades de los Perros , Ehrlichiosis , Enfermedades por Picaduras de Garrapatas , Garrapatas , Perros , Animales , Enfermedades por Picaduras de Garrapatas/epidemiología , Enfermedades por Picaduras de Garrapatas/veterinaria , Brasil/epidemiología , Ehrlichia/genética , Anaplasma/genética , Ehrlichia canis/genética , Enfermedades de los Perros/epidemiología , Ehrlichiosis/epidemiología , Ehrlichiosis/veterinaria
5.
BMC Nutr ; 9(1): 85, 2023 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-37443077

RESUMEN

BACKGROUND: Minority ethnic groups are a fast-growing population in many high-income countries, partly due to the increasing population of immigrants and second-generation migrants. The dietary practices of some of these minority ethnic groups might make them to be disproportionately affected by obesity and increase their risks of developing non-communicable diseases. Population-specific interventions and strategies are vital to addressing poor nutritional practices among this population. Thus, this study systematically reviewed the perceptions of dietary intake amongst Black, Asian and other minority ethnic groups in high-income countries. METHODS: This systematic review was conducted in line with the guidelines of the Joanna Briggs Institute (JBI) methodology for systematic reviews, using a meta-aggregative design. This systematic review identified and synthesised qualitative literature on the perceptions of dietary intake amongst BlackAsian and other minority  ethnic groups in high-income countries. An extensive and comprehensive database search was conducted between January 2000 - May 2022 and included twenty (20) studies that met the eligibility criteria from six countries. The included studies were assessed for quality using the JBI qualitative assessment and review instrument. The JBI data extraction tools were used to retrieve relevant data from included articles, and the data were thematically analysed. RESULTS: We identified eight major themes across this database: (1) "Social and Cultural Factors," (2) "Availability and Accessibility," (3) "Family and Community Influences," (4) "Food Preferences", (5) "Home Country Food Versus Host Country Food" (6) "Dietary Acculturation" (7) "Health and Healthy Eating" (8) "Perception of Nutritional Information." CONCLUSION: Overall, Black, Asian, and other minority ethnic groups individuals were found to be aware of the effects of unhealthy eating on their health, and some of them have nutritional knowledge, but social and cultural factors, including structural factors, were deterrents to their healthy eating behaviours. An important finding from this review is that some participants believed that nutritional information, based on bio-medical science, was intended for only White population groups and that it was antagonistic to their cultural and community well-being.

6.
JMIR Res Protoc ; 12: e40545, 2023 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-37327055

RESUMEN

BACKGROUND: The unequal distribution of academic and professional outcomes between different minority groups is a pervasive issue in many fields, including surgery. The implications of differential attainment remain significant, not only for the individuals affected but also for the wider health care system. An inclusive health care system is crucial in meeting the needs of an increasingly diverse patient population, thereby leading to better outcomes. One barrier to diversifying the workforce is the differential attainment in educational outcomes between Black and Minority Ethnic (BME) and White medical students and doctors in the United Kingdom. BME trainees are known to have lower performance rates in medical examinations, including undergraduate and postgraduate exams, Annual Review of Competence Progression, as well as training and consultant job applications. Studies have shown that BME candidates have a higher likelihood of failing both parts of the Membership of the Royal Colleges of Surgeons exams and are 10% less likely to be considered suitable for core surgical training. Several contributing factors have been identified; however, there has been limited evidence investigating surgical training experiences and their relationship to differential attainment. To understand the nature of differential attainment in surgery and to develop effective strategies to address it, it is essential to examine the underlying causes and contributing factors. The Variation in Experiences and Attainment in Surgery Between Ethnicities of UK Medical Students and Doctors (ATTAIN) study aims to describe and compare the factors and outcomes of attainment between different ethnicities of doctors and medical students. OBJECTIVE: The primary aim will be to compare the effect of experiences and perceptions of surgical education of students and doctors of different ethnicities. METHODS: This protocol describes a nationwide cross-sectional study of medical students and nonconsultant grade doctors in the United Kingdom. Participants will complete a web-based questionnaire collecting data on experiences and perceptions of surgical placements as well as self-reported academic attainment data. A comprehensive data collection strategy will be used to collect a representative sample of the population. A set of surrogate markers relevant to surgical training will be used to establish a primary outcome to determine variations in attainment. Regression analyses will be used to identify potential causes for the variation in attainment. RESULTS: Data collected between February 2022 and September 2022 yielded 1603 respondents. Data analysis is yet to be competed. The protocol was approved by the University College London Research Ethics Committee on September 16, 2021 (ethics approval reference 19071/004). The findings will be disseminated through peer-reviewed publications and conference presentations. CONCLUSIONS: Drawing upon the conclusions of this study, we aim to make recommendations on educational policy reforms. Additionally, the creation of a large, comprehensive data set can be used for further research. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/40545.

8.
Front Psychol ; 14: 1173314, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37034944
9.
Genet Med ; 25(9): 100846, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37061873

RESUMEN

PURPOSE: Polygenic risk scores (PRSs) are a major component of accurate breast cancer (BC) risk prediction but require ethnicity-specific calibration. Ashkenazi Jewish (AJ) population is assumed to be of White European (WE) origin in some commercially available PRSs despite differing effect allele frequencies (EAFs). We conducted a case-control study of WE and AJ women from the Predicting Risk of Cancer at Screening Study. The Breast Cancer in Northern Israel Study provided a separate AJ population-based case-control validation series. METHODS: All women underwent Illumina OncoArray single-nucleotide variation (SNV; formerly single-nucleotide polymorphism [SNP]) analysis. Two PRSs were assessed, SNV142 and SNV78. A total of 221 of 2243 WE women (discovery: cases = 111; controls = 110; validation: cases = 651; controls = 1772) and 221 AJ women (cases = 121; controls = 110) were included from the UK study; the Israeli series consisted of 2045 AJ women (cases = 1331; controls = 714). EAFs were obtained from the Genome Aggregation Database. RESULTS: In the UK study, the mean SNV142 PRS demonstrated good calibration and discrimination in WE population, with mean PRS of 1.33 (95% CI 1.18-1.48) in cases and 1.01 (95% CI 0.89-1.13) in controls. In AJ women from Manchester, the mean PRS of 1.54 (1.38-1.70) in cases and 1.20 (1.08-1.32) in controls demonstrated good discrimination but overestimation of BC relative risk. After adjusting for EAFs for the AJ population, mean risk was corrected (mean SNV142 PRS cases = 1.30 [95% CI 1.16-1.44] and controls = 1.02 [95% CI 0.92-1.12]). This was recapitulated in the larger Israeli data set with good discrimination (area under the curve = 0.632 [95% CI 0.607-0.657] for SNV142). CONCLUSION: AJ women should not be given BC relative risk predictions based on PRSs calibrated to EAFs from the WE population. PRSs need to be recalibrated using AJ-derived EAFs. A simple recalibration using the mean PRS adjustment ratio likely performs well.


Asunto(s)
Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Judíos , Femenino , Humanos , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/etnología , Neoplasias de la Mama/genética , Estudios de Casos y Controles , Judíos/genética , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Población Blanca/genética , Herencia Multifactorial
11.
Expert Opin Drug Metab Toxicol ; 19(1): 27-41, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36755439

RESUMEN

INTRODUCTION: Various pharmacogenomic (PGx) variants differ widely in different ethnicities. and clinical outcomes associated with these variants may also be substantially varied. Literature was searched in different databases, i.e. PubMed, ScienceDirect, Web of Science, and PharmGKB, from inception to 30 June 2022 for this review. AREAS COVERED: Certain PGx variants were distinctly varied in Asian populations compared to the other human populations, e.g. CYP2C19*2,*3,*17; CYP2C9*2,*3; CYP2D6*4,*5,*10,*41; UGT1A1*6,*28; HLA-B*15:02, HLA-B*15:21, HLA-B*58:01, and HLA-A*31:01. However, certain other variants do not vary greatly between Asian and other ethnicities, e.g. CYP3A5*3; ABCB1, and SLCO1B1*5. As evident in this review, the risk of major adverse cardiovascular events (MACE) was much stronger in Asian patients taking clopidogrel and who inherited the CYP2C19 loss-of-function alleles, e.g. CYP2C19*2 and*3, when compared to the western/Caucasian patients. Additionally, the risk of carbamazepine-induced severe cutaneous adverse drug reactions (SCARs) for the patients inheriting HLA-B*15:02 and HLA-B*15:21 alleles varied significantly between Asian and other ethnicities. In contrast, both Caucasian and Asian patients inheriting the SLCO1B1*5 variant possessed a similar magnitude of muscle toxicity, i.e. myopathy. EXPERT OPINION: Asian countries should take measures toward expanding PGx research, as well as initiatives for the purposes of obtaining clinical benefits from this newly evolving and economically viable treatment model.


Asunto(s)
Asiático , Farmacogenética , Humanos , Clopidogrel , Citocromo P-450 CYP2C19/genética , Citocromo P-450 CYP2D6 , Antígenos HLA-B , Transportador 1 de Anión Orgánico Específico del Hígado , Asiático/genética
12.
Alzheimers Dement ; 19(4): 1331-1342, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36111689

RESUMEN

INTRODUCTION: We studied the replication and generalization of previously identified metabolites potentially associated with global cognitive function in multiple race/ethnicities and assessed the contribution of diet to these associations. METHODS: We tested metabolite-cognitive function associations in U.S.A. Hispanic/Latino adults (n = 2222) from the Community Health Study/ Study of Latinos (HCHS/SOL) and in European (n = 1365) and African (n = 478) Americans from the Atherosclerosis Risk In Communities (ARIC) Study. We applied Mendelian Randomization (MR) analyses to assess causal associations between the metabolites and cognitive function and between Mediterranean diet and cognitive function. RESULTS: Six metabolites were consistently associated with lower global cognitive function across all studies. Of these, four were sugar-related (e.g., ribitol). MR analyses provided weak evidence for a potential causal effect of ribitol on cognitive function and bi-directional effects of cognitive performance on diet. DISCUSSION: Several diet-related metabolites were associated with global cognitive function across studies with different race/ethnicities. HIGHLIGHTS: Metabolites associated with cognitive function in Puerto Rican adults were recently identified. We demonstrate the generalizability of these associations across diverse race/ethnicities. Most identified metabolites are related to sugars. Mendelian Randomization (MR) provides weak evidence for a causal effect of ribitol on cognitive function. Beta-cryptoxanthin and other metabolites highlight the importance of a healthy diet.


Asunto(s)
Cognición , Dieta Saludable , Humanos , Dieta Mediterránea , Hispánicos o Latinos , Ribitol , Estados Unidos , Blanco , Negro o Afroamericano
13.
Oral Radiol ; 39(2): 341-348, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-35927529

RESUMEN

OBJECTIVE: This study aimed to assess the dimensional and morphological measurements of the frontal air sinuses in different ages and genders in the two ethnicities. MATERIALS AND METHODS: This retrospective study included 360 subjects (160 males and 200 females) of both ethnicities. Subjects were divided based on age and gender into four groups, including an equal number of both males and females, for each age and ethnic group. The frontal air sinus dimensions were measured utilizing lateral cephalometric radiographs and computed using Winceph version 9.0 software. The frontal air sinus dimensions were compared between age groups in both genders and between ethnicity using an independent sample t test. The relationship between the frontal air sinus dimensions and subjects' age was evaluated using Pearson's correlation coefficient. RESULT: The frontal air sinuses measurements were larger in males than females in both ethnicities, except for the frontal sinus index, which was found to be larger in females than males. The frontal air sinus surface area and height showed statistically significant differences between the two age groups in both ethnicities (P < 0.05). The Arabian-Caucasian patients had a larger frontal sinus surface area, height, and depth than the Han-Chinese patients in both age groups. CONCLUSION: The size of the frontal air sinus increases with age; and continues to expand after the age of 20 years. Based on the Arabian-Caucasian and Han-Chinese sub-population findings, the frontal sinus is an effective tool for determining gender and appears to have potential in ethnicity identification.


Asunto(s)
Seno Frontal , Humanos , Masculino , Femenino , Adulto Joven , Adulto , Seno Frontal/diagnóstico por imagen , Seno Frontal/anatomía & histología , Etnicidad , Estudios Retrospectivos , Pueblos del Este de Asia , Cefalometría
14.
Front Public Health ; 10: 1034227, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36582365

RESUMEN

Background: While increased age is an established risk factor for COVID-19, there is great heterogeneity in outcomes within age groups. This is because chronological age does not reflect health, unlike biological age. We intend to investigate the association between accelerated ageing and COVID-19 outcomes through the lens of three measures, namely phenotypic age acceleration (PhenoAgeAccel), telomere length (Adjusted T/S Ratio) and facial ageing, and to examine whether there are differences across ethnic groups. Methods: Taking participants from the UK Biobank, we associated accelerated ageing with severe COVID-19 outcomes, defined as COVID-related hospitalisation or death. Separate logistic regressions models were created for age and the three accelerated ageing-related variables, adjusting for a variety of covariates in each model. Multivariable logistic regression models were also created within White, Black, Asian and Other ethnic groups to assess for potential differing associations. Forward likelihood ratio logistic regression models were created to evaluate importance of the variables and to assess for patterns of association across the total population and ethnic groups. Results: After adjusting for all covariates, the odds ratio (OR) and 95% confidence interval (95% CI) of COVID-19 severe outcomes for age was 1.080 (1.074-1.086). After further adjusting age for the accelerated ageing variables, the ORs were 1.029 (1.020-1.039) for PhenoAgeAccel and 0.847 (0.772-0.929) for Facial Ageing's "Younger Than You Are" while Adjusted T/S ratio and "Older Than You Are" were statistically insignificant. The OR for age remained similar across ethnic groups. Both PhenoAgeAccel and younger facial ages in the White population and PhenoAgeAccel in the Black population had ORs of 1.031 (1.021-1.042), 0.853 (0.774-0.939), and 1.049 (1.001-1.100), respectively. Both Adjusted T/S Ratio and older facial ages showed statistical insignificance in all ethnicities. In forward logistic regression, age and PhenoAgeAccel were the age-related variables selected most frequently in all models. Interpretation: Accelerated ageing is associated with increased COVID-19 severity. The mechanisms at work here are likely immunosenescence and inflamaging. This association indicates that anti-ageing treatment may improve COVID-19 outcome. The results within ethnic groups and that of telomere length were inconclusive, but point to a need for future, more focused research on the topic.


Asunto(s)
COVID-19 , Etnicidad , Humanos , COVID-19/epidemiología , Envejecimiento , Población Negra , Factores de Riesgo
15.
J Pers Med ; 12(11)2022 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-36579562

RESUMEN

Genetic polymorphisms in cytochrome P450 genes can cause variation in metabolism. Thus, single nucleotide variants significantly impact drug pharmacokinetics, toxicity factors, and efficacy and safety of medicines. The distribution of CYP450 alleles varies drastically across ethnicities, with significant implications for personalized medicine and the healthcare system. We combined whole-genome and exome sequencing data to provide a review of CYP450 allele polymorphisms with clinical importance. Data were collected from 800 unrelated Iranians (100 subjects from 8 major ethnicities of Iran), more than 32,000 unrelated Europeans (other than Caucasian), and four Middle Eastern countries. We analyzed the frequencies and similarities of 17 CYP450 frequent alleles related to nine important CYP450 isoenzymes and homozygous and heterozygous genotypes based on these alleles in eight major Iranian ethnics by integrating these data with population-specific linkage information and compared these datasets with mentioned populations.

16.
J Clin Med Res ; 14(10): 400-408, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36406944

RESUMEN

Background: Patient portal (PP) use varies among different patient populations, specifically among those with diabetes mellitus (DM). In addition, it is still uncertain whether PP use could be linked to improved clinical outcomes. Therefore, the aim of this paper was to determine PP use status for patients, recognize factors promoting PP use, and further identify the association between PP use and clinical outcome among diabetic patients of different races and ethnicities. Methods: This was a single-center cross-section study. Patients were divided into non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic/Latino groups. PP use was compared among these three groups. Multivariate logistic regressions were used to determine factors associated with PP use, serum glycemic control, and emergency department (ED) hospitalizations. Results: A total of 77,977 patients were analyzed. The rate of PP use among patients of NHW (24%) was higher than those of NHB (19%) and Hispanic/Latinos (18%, P < 0.0001). The adjusted odds ratio (AOR) of insurance coverage associated with PP use was 2.12 (2.02 - 2.23, P < 0.0001), and having a primary care physician (PCP) associated with PP use was 3.89 (3.71 - 4.07, P < 0.0001). In terms of clinical outcomes, the AOR of PP use associated with serum glycemic control was 0.98 (0.90 - 1.05, P = 0.547) and ED hospitalization was 0.79 (0.73 - 0.86, P < 0.0001). Conclusion: PP use disparity occurred among NHB and Hispanic/Latino patients in the ED. Having insurance coverage and PCPs seem to correlate with PP use. PP use did not seem to associate with serum glycemic control among DM patients present in the ED but could possibly reduce patient hospitalizations.

17.
J Pharm Bioallied Sci ; 14(Suppl 1): S304-S306, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36110776

RESUMEN

Introduction: Establishing an accurate vertical dimension at occlusal (VDO) is a challenge. Hence, we aim to find the association between the VDO and the Thumb Length (TL). Materials and Methods: We piloted an observational study by evaluating the VDO and the TL among the Dravidian and Aryan ethnicities with 200 volunteers. The comparisons were made applying the "linear regression analysis" to find the correlation of both. Results: We observed that a strong and positive relation was established for the two parameters of VDO and TL for both the ethnicities. Conclusion: We can suggest from our study that the thumb length can be used as an aid for the occlusal vertical dimension estimation.

18.
Am J Transl Res ; 14(5): 3464-3471, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35702131

RESUMEN

OBJECTIVE: Obstructive Sleep Apnea (OSA) is a heterogeneous disorder with a complex interplay of genetic and environmental factors. Over the years, with advancement in genotyping and sequencing techniques, various loci have shown an association with OSA. It is pertinent to understand the status of these associated variants in different ethnic groups. The aim of the study was to assess the genetic affinity among different population groups by evaluating the risk allele frequencies of variants associated with OSA. METHOD: The variants associated with OSA were obtained from the GWAS catalog with a significant p value of <5 × 10-7; 95 variants were obtained (www.ebi.ac.uk/gwas). Further, the variants were narrowed down on the basis of risk allele frequencies (>5%). The fst was calculated to assess the genetic affinity between super population groups and among the sub-population groups present in the 1000 genome project. RESULT: The fst values observed indicated all super populations were genetically related (SAS, AMR, EAS and EUR) except in the African (AFR) population group. Further, the closely related super population i.e., SAS, AMR, EAS and EUR when bifurcated on the basis of sub-population groups shows population stratification and SAS population groups form separate clusters on the MDS plot. CONCLUSION: The study highlights genetic heterogeneity among different population groups that gets diluted and results are biased when the samples are pooled irrespective of their endogamous groups. Our results provide insight to researchers to target specific endogamous groups for future studies on OSA.

19.
Metabolomics ; 18(7): 45, 2022 06 28.
Artículo en Inglés | MEDLINE | ID: mdl-35763080

RESUMEN

Type 2 diabetes (T2D) associated health disparities among different ethnicities have long been known. Ethnic variations also exist in T2D related comorbidities including insulin resistance, vascular complications and drug response. Genetic heterogeneity, dietary patterns, nutrient metabolism and gut microbiome composition attribute to ethnic disparities in both manifestation and progression of T2D. These factors differentially regulate the rate of metabolism and metabolic health. Metabolomics studies have indicated significant differences in carbohydrate, lipid and amino acid metabolism among ethnicities. Interestingly, genetic variations regulating lipid and amino acid metabolism might also contribute to inter-ethnic differences in T2D. Comprehensive and comparative metabolomics analysis between ethnicities might help to design personalized dietary regimen and newer therapeutic strategies. In the present review, we explore population based metabolomics data to identify inter-ethnic differences in metabolites and discuss how (a) genetic variations, (b) dietary patterns and (c) microbiome composition may attribute for such differences in T2D.


Asunto(s)
Diabetes Mellitus Tipo 2 , Microbioma Gastrointestinal , Aminoácidos , Diabetes Mellitus Tipo 2/metabolismo , Microbioma Gastrointestinal/genética , Humanos , Lípidos , Metabolómica
20.
Genes Dis ; 9(4): 928-940, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35685475

RESUMEN

Latin-America (LATAM) is the second region in gastric cancer incidence; gastric adenocarcinoma (GA) represents 95% of all cases. We provide a mutational landscape of GA highlighting a) germline pathogenic variants associated with hereditary GA, b) germline risk variants associated with sporadic GA, and c) somatic variants present in sporadic GA in LATAM, and analyze how this landscape can be applied for precision medicine. We found that Brazil, Chile, Colombia, Mexico, Peru, and Venezuela are the countries with more published studies from LATAM explicitly related to GA. Our analysis displayed that different germline pathogenic variants for the CDH1 gene have been identified for hereditary GA in Brazilian, Chilean, Colombian, and Mexican populations. An increased risk of developing somatic GA is associated with the following germline risk variants: IL-4, IL-8, TNF-α, PTGS2, NFKB1, RAF1, KRAS and MAPK1 in Brazilian; IL-10 in Chilean; IL-10 in Colombian; EGFR and ERRB2 in Mexican, TCF7L2 and Chr8q24 in Venezuelan population. The path from mutational landscape to precision medicine requires four development levels: 1) Data compilation, 2) Data analysis and integration, 3) Development and approval of clinical approaches, and 4) Population benefits. Generating local genomic information is the initial padlock to overcome to generate and apply precision medicine.

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