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1.
Dental Press J Orthod ; 29(2): e2423206, 2024.
Article de Anglais | MEDLINE | ID: mdl-38775599

RÉSUMÉ

OBJECTIVE: This study aimed to compare the nasopharynx and oropharynx airway dimensions of Caucasians, Blacks, Japanese, Japanese Brazilians, and Black Caucasians. METHODS: A sample of 216 lateral radiographs of untreated young Brazilian subjects (mean age of 12.94 years; SD 0.88) were divided into five groups: Black Caucasian, Black, Caucasian, Japanese, and Japanese Brazilian. Lateral radiographs were used to measure the oropharynx (from the midpoint on the soft palate to the closest point on the anterior pharyngeal wall) and the nasopharynx (from the intersection of the posterior border of the tongue and the inferior border of the mandible to the closest point on the posterior pharyngeal wall). Analyses of variance (ANOVA) and Tukey's test were performed (p< 0.05). RESULTS: The linear dimension of the oropharynx was similar among the different ethnic groups. Caucasian individuals presented a significantly greater linear dimension of the nasopharynx than Black Caucasian and Black individuals. CONCLUSIONS: All the groups had similar buccopharyngeal values. However, Caucasian individuals had significantly higher values when compared to Black Caucasians and Black individuals.


Sujet(s)
Asiatiques , 38410 , Céphalométrie , Mandibule , Partie nasale du pharynx , Partie orale du pharynx , 38413 , Adolescent , Enfant , Femelle , Humains , Mâle , Brésil/ethnologie , Occlusion dentaire , Ethnies , Japon/ethnologie , Mandibule/anatomie et histologie , Mandibule/imagerie diagnostique , Partie nasale du pharynx/anatomie et histologie , Partie nasale du pharynx/imagerie diagnostique , Partie orale du pharynx/anatomie et histologie , Partie orale du pharynx/imagerie diagnostique , Palais mou/anatomie et histologie , Palais mou/imagerie diagnostique , Langue/anatomie et histologie , Langue/imagerie diagnostique , 38409
3.
Braz J Otorhinolaryngol ; 90(4): 101430, 2024.
Article de Anglais | MEDLINE | ID: mdl-38603971

RÉSUMÉ

OBJECTIVE: This study aimed to use validated measures to evaluate the functional and esthetic outcomes in patients who underwent functional rhinoplasty for Internal Nasal Valve Dysfunction (INVD) in Korea. METHODS: A retrospective review of consecutive patients who underwent functional rhinoplasty for INVD confirmed by endoscopic findings and the modified Cottle test between 2016 and 2018 was performed. Nasal obstruction was assessed with the Visual Analog Scale (VAS) and nasal obstruction symptom evaluation (NOSE) scale. Acoustic rhinometry was performed pre- and post-operatively. The Minimal Cross-Sectional Area (MCA) of the nose was measured. Objective assessment of the esthetic outcomes was performed with the Objective Rhinoplasty Outcome Score (OROS), which assesses tip rotation, projection, width, dorsal height, width, length, symmetry, and the overall result. RESULTS: Fifty-seven patients (46 men and 11 women; mean age, 30.5 ±â€¯12.3 years) who underwent functional rhinoplasty were included in this study. The VAS and NOSE scores indicated functional improvement in all cases (all p < 0.001). There were no significant between-group differences (VAS score, p = 0.274; NOSE score, p = 0.952). The objective functional outcomes evaluated using MCA on the concave (p = 0.478) and convex (p = 0.631) sides did not differ significantly pre- and post-operatively. The subjective evaluation of esthetic satisfaction revealed no between-group difference. Moreover, 31 out of 44 patients (70.5%) with static INVD and nine out of 14 patients (64.3%) with dynamic or combined INVD showed excellent outcomes. Regarding objective esthetic outcomes, scores for the eight factors were >3, and there was no significant difference between the two groups (all p > 0.05). CONCLUSIONS: Functional rhinoplasty, including extracorporeal septoplasty and spreader grafting, may be a viable option for correcting INVD with functional and esthetic improvement. Dynamic INVD is less prevalent among Asians, and there was no significant difference in the surgical outcomes compared with those of static INVD. LEVEL OF EVIDENCE: Level 4.


Sujet(s)
Esthétique , Obstruction nasale , Rhinoplastie , Humains , Rhinoplastie/méthodes , Femelle , Mâle , Adulte , Études rétrospectives , Obstruction nasale/chirurgie , Résultat thérapeutique , Jeune adulte , Asiatiques , République de Corée , Rhinométrie acoustique , Échelle visuelle analogique , Adulte d'âge moyen
4.
AIDS Educ Prev ; 36(2): 103-112, 2024 04.
Article de Anglais | MEDLINE | ID: mdl-38648177

RÉSUMÉ

The purpose of this analysis is to describe HIV tests and associated outcomes for Asian people reached by the Centers for Disease Control and Prevention (CDC) HIV testing program. We analyzed CDC-funded HIV tests among Asian individuals in the United States, Puerto Rico, and the U.S. Virgin Islands (2014-2020). Of the 415,560 tests, the positivity of new diagnoses was higher among males (0.49%, aPR = 7.64) than females (0.06%), and in the West (0.42%, aPR = 1.15) than in the South (0.25%). In non-health care settings, positivity was highest among men who have sex with men (MSM; 0.87%) and transgender people (0.46%). Linkage to HIV medical care among Asian people was 87.5%, and 70.7% were interviewed for partner services. Our findings suggest that improvements are crucial, particularly for Asian MSM, in linkage to care and interview for partner services.


Sujet(s)
31808 , Infections à VIH , Dépistage du VIH , Dépistage de masse , Humains , Mâle , Infections à VIH/diagnostic , Infections à VIH/prévention et contrôle , Infections à VIH/ethnologie , Femelle , États-Unis , Dépistage du VIH/statistiques et données numériques , Adulte , Dépistage de masse/statistiques et données numériques , Dépistage de masse/méthodes , Adulte d'âge moyen , Jeune adulte , Homosexualité masculine/statistiques et données numériques , Homosexualité masculine/ethnologie , Porto Rico , Asiatiques/statistiques et données numériques , Traçage des contacts , Partenaire sexuel , Adolescent , Iles Vierges des États-Unis , Personnes transgenres/statistiques et données numériques , 23895/statistiques et données numériques , Entretiens comme sujet , Minorités sexuelles/statistiques et données numériques
5.
Nutrients ; 16(8)2024 Apr 19.
Article de Anglais | MEDLINE | ID: mdl-38674904

RÉSUMÉ

The global population is at risk of vitamin D deficiency due to low exposure to sunlight and low intake of the vitamin through diet. The aim of this study was to investigate in women the association between vitamin D status and parathyroid hormone (PTH), ultraviolet radiation, lifestyle, ethnicity, social conditions, and residential greenness. A 1-year longitudinal study assessed vitamin D status in 309 women living at latitude 51°14' N. Blood samples were taken four times throughout the year for analysis of 25(OH)D and serum PTH concentration. After each seasonal visit, the individuals completed 4-day diet diaries and used two dosimeter badges for 1 week to estimate weekly UVR exposure. A questionnaire was applied to provide information about lifestyle and their ethnicity. Residential greenness was measured by Normalized Difference Vegetation Index (NDVI), within a 1000 m radius around each participant's home address. Women living in greener spaces were more likely to have improved vitamin D status (RR: 1.51; 95%CI: 1.13-2.02), as well as those who were more exposed to UVR (RR: 2.05; 95%CI: 1.44-2.92). Our results provide an insight into the connection between residential greenness, lifestyle, and vitamin D status comparing two ethnicities in a country with a temperate climate and with a high degree of urbanization.


Sujet(s)
Asiatiques , Mode de vie , Carence en vitamine D , Vitamine D , 38413 , Adulte , Sujet âgé , Femelle , Humains , Adulte d'âge moyen , Études longitudinales , Hormone parathyroïdienne/sang , Caractéristiques de l'habitat , Lumière du soleil , Rayons ultraviolets , Royaume-Uni/épidémiologie , Vitamine D/sang , Vitamine D/analogues et dérivés , Carence en vitamine D/sang , Carence en vitamine D/ethnologie , Carence en vitamine D/épidémiologie , Populations d'Asie du Sud
6.
J Biosoc Sci ; 56(4): 609-624, 2024 Jul.
Article de Anglais | MEDLINE | ID: mdl-38572603

RÉSUMÉ

Around half of the population of Suriname, who are mainly of African and South Asian descent, migrated to the Netherlands at the end of the previous century, where they face higher perinatal and maternal mortality and up to 5 years lower life expectancy than European-Dutch. Analyses by ancestry are needed to address these inequalities, but the law prohibits registration by ancestry. Therefore, a list of Surinamese surnames was compiled and validated to identify the largest groups, African-Surinamese or South Asian-Surinamese ancestry in health research. A complete database of Surinamese surnames was provided by the National Population Registry of Suriname. Surname recognition by researchers of Surinamese ancestry was used. Disagreement was resolved using historical registers and through discussion. The list was further validated against contemporary lists of Surinamese surnames with self-defined ancestry, obtained during population and clinical studies in Suriname and the Netherlands. All 71,529 Surinamese surnames were encoded, as African-Surinamese (34%), South Asian-Surinamese (18%), Brazilian or other Iberian (17%), Indonesian-Surinamese (13%), Chinese-Surinamese (5%), First Nation (2%), and other (10%). Compared to self-defined ancestry, South Asian-Surinamese surname coding had 100% sensitivity, 99.8% specificity, and 99.9% accuracy. For African-Surinamese, who may have Dutch surnames, these values depended on geocoding. With a known Surinamese origin, sensitivity, specificity, and accuracy were, respectively, 97.3%, 100%, and 98.6%, but without this information, there was interference of African-Surinamese with European-Dutch surnames in the Dutch validation sample. In conclusion, the Surinamese Surname List has a high accuracy in identifying persons of Surinamese ancestry. This quick, inexpensive, and nonintrusive method, which is unaffected by response bias, might be a valuable tool in public health research to help address the profound health disparities by ancestry.


Sujet(s)
Noms , Humains , Suriname/ethnologie , Pays-Bas , 38410/statistiques et données numériques , Asiatiques/statistiques et données numériques , Femelle , Enregistrements , Ethnies/statistiques et données numériques , Mâle , Recherche biomédicale/histoire
7.
Clin Neurol Neurosurg ; 239: 108213, 2024 04.
Article de Anglais | MEDLINE | ID: mdl-38479034

RÉSUMÉ

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P), or, Okinawa type, is a rare neuromuscular disorder characterized by proximal dominant neurogenic atrophy and distal sensory alterations with an autosomal dominant inheritance pattern. We present a case of a Brazilian woman of Okinawan ancestry, with symmetrical proximal weakness, fasciculations, absent patellar reflexes and positive familial history for the same symptoms. These findings led to genetic testing, which identified a variant in the TFG gene (c.854 C>T;p.(Pro285Leu), confirming the diagnosis of HMSN-P. HMSN-P seemed to be restricted to populations in Okinawa, however, other HMSN-P cases were described in several parts of the world, especially in South America. This case report emphasizes the importance of considering HMSN-P in patients presenting with clinical features resembling proximal myopathy, especially in individuals with Okinawan ancestry.


Sujet(s)
Neuropathie héréditaire motrice et sensitive , Maladies musculaires , Femelle , Humains , Neuropathie héréditaire motrice et sensitive/diagnostic , Neuropathie héréditaire motrice et sensitive/génétique , Brésil , Asiatiques , Pedigree
8.
Ann Hepatol ; 29(3): 101287, 2024.
Article de Anglais | MEDLINE | ID: mdl-38266674

RÉSUMÉ

INTRODUCTION AND OBJECTIVES: Autoimmune hepatitis (AIH) is a prevalent noninfectious liver disease. However, there is currently a lack of noninvasive tests appropriate for evaluating liver fibrosis in AIH patients. The objective of this study was to develop and validate a predictive model for noninvasive assessment of significant liver fibrosis (S ≥ 2) in patients to provide a reliable method for evaluating liver fibrosis in individuals with AIH. MATERIALS AND METHODS: The clinical data of 374 AIH patients were analyzed. A prediction model was established through logistic regression in the training set, and bootstrap method was used to validate the models internally. In addition, the clinical data of 109 AIH patients were collected for external verification of the model.The model was expressed as a nomogram, and area under the curve (AUC) of the receiver operating characteristic (ROC), calibration curve, and decision curve analysis were used to evaluate the accuracy of the prediction model. RESULTS: Logistic regression analysis revealed that age, platelet count (PLT), and the A/G ratio were identified as independent risk factors for liver fibrosis in AIH patients (P < 0.05). The diagnostic model that was composed of age, PLT and A/G was superior to APRI and FIB-4 in both the internal validation (0.872, 95%CI: 0.819-0.924) and external validation (0.829, 95%CI: 0.753-0.904). CONCLUSIONS: Our predictive model can predict significant liver fibrosis in AIH patients more accurately, simply, and noninvasively.


Sujet(s)
Hépatite auto-immune , Cirrhose du foie , Nomogrammes , Valeur prédictive des tests , Courbe ROC , Humains , Hépatite auto-immune/complications , Hépatite auto-immune/sang , Hépatite auto-immune/diagnostic , Cirrhose du foie/diagnostic , Cirrhose du foie/sang , Femelle , Mâle , Adulte d'âge moyen , Adulte , Numération des plaquettes , Modèles logistiques , Facteurs de risque , Reproductibilité des résultats , Chine/épidémiologie , Techniques d'aide à la décision , Aire sous la courbe , Facteurs âges , Marqueurs biologiques/sang , Études rétrospectives , Jeune adulte , Asiatiques , Sujet âgé , Peuples d'Asie de l'Est
9.
Facial Plast Surg ; 40(2): 223-233, 2024 Apr.
Article de Anglais | MEDLINE | ID: mdl-37879353

RÉSUMÉ

For decades, the placement of follicular units (FUs) into incisions in the recipient area was exclusively carried out using forceps. In 1992, Dr. Choi introduced an instrument known as the "implanter," which had the advantage of simultaneously creating incisions and placing FUs without damaging sensitive parts. Its initial popularity was greater in the East, primarily due to the characteristics of Asian hair. Asian hair is typically straight and thick, with FUs mostly consisting of just one or two hair.With the description of the follicular unit excision (FUE) technique in 2002 and its widespread adoption nearly a decade later, the advantages of using the implanter also gained popularity in the West. The uniformity in the size of FUs provided by the FUE technique and the possibility of delegating the placement were key attractions in the use of this placement tool. In addition to the traditional Korean implanter with a sharp needle, other implanters and inserters have been described.The choice of implantation technique depends on individual adaptation and the advantages and disadvantages offered by each instrument. Although forceps allow for safe placement in the hands of well-trained teams, the increased fragility of FUs obtained with the FUE technique has led to the growing acceptance of techniques that employ implanters and inserters.


Sujet(s)
Follicule pileux , Poils , Humains , Follicule pileux/transplantation , Poils/transplantation , Asiatiques , Prélèvement d'organes et de tissus , Transplantation autologue
10.
Int J Public Health ; 68: 1606380, 2023.
Article de Anglais | MEDLINE | ID: mdl-38090667

RÉSUMÉ

Objectives: To gain insight in the motives and determinants for the uptake of healthy lifestyles by South-Asian Surinamese people to identify needs and engagement strategies for healthy lifestyle support. Methods: We used a mixed-method design: first, focus groups with South-Asian Surinamese women; second, a questionnaire directed at their social network, and third, interviews with health professionals. Qualitative content analysis, basic statistical analyses and triangulation of data were applied. Results: Sixty people participated (n = 30 women, n = 20 social network, n = 10 professionals). Respondent groups reported similar motives and determinants for healthy lifestyles. In general, cardiometabolic prevention was in line with the perspectives and needs of South-Asian Surinamese. However, there seems to be a mismatch too: South-Asian Surinamese people missed a culturally sensitive approach, whereas professionals experienced difficulty with patient adherence. Incremental changes to current lifestyles; including the social network, and an encouraging approach seem to be key points for improvement of professional cardiometabolic prevention. Conclusion: Some key points for better culturally tailoring of preventive interventions would meet the needs and preferences of the South-Asian Surinamese living in the Netherlands.


Sujet(s)
Asiatiques , Maladies cardiovasculaires , Femelle , Humains , Maladies cardiovasculaires/prévention et contrôle , Études transversales , Pays-Bas , Mâle
11.
Ciênc. rural (Online) ; 53(1): 1-16, 2023. tab, graf
Article de Anglais | VETINDEX | ID: biblio-1410718

RÉSUMÉ

Agriculture trade remains the economic fulcrum of most African countries as the continent continues to host the largest percent of arable land. This research analyzed the Economic Community of West African States (ECOWAS) and China's agricultural products trade determinants based on 19 years (2000-2018) panel dataset of West African countries aggregate agricultural products exports ($) and macroeconomic variables; GDP, population, arable land, language investment, and trade association(WTO)) as predictors. The PPML estimation method was employed due to its prediction accuracy, the size of the data, and potential hetroskadacity issues. With a 78.5% prediction power, the model explained the variation in ECOWAS-China agricultural trade (Exports). GDPj, lnPOPj, lnPOPi, and lnARLj, LndLj, ConfInsj, and WTOij were positive and statistically significant determinants of trade as hypothesized by existing trade literature. In addition, the China's population (lnPOPj) had a value of 0.5877, which is significant at the 5% level, indicating that a 1% increase in the Chinese population significantly increases trade in agricultural products with ECOWAS states. The coefficient of distance (Dij) is -4.4573 statistically significant at the 1% level, indicating that distance between partners impedes trade flow. There are unidentified barriers that delay the progress of trade in agricultural products between ECOWAS and China. Based on the above findings, Investments in ECOWAS arable lands demand urgent attention if significant progress in exports is expected, additionally, governments of both partners should assist Agricultural research and development to identify and rectify stifling trade barriers. Furthermore, as trade between ECOWAS and China has not yet reached its full peak, studies on export determinants of individual Agro-commodities and potentials are needed to enrich literature.


O comércio agrícola continua sendo o sustentáculo econômico da maioria dos países africanos, visto que o continente continua a hospedar a maior porcentagem de terras aráveis. Este trabalho analisou os determinantes do comércio de produtos agrícolas de paises do oeste da África ECOWAS e da China com base em um conjunto de dados de painel de 19 anos (2000-2018) dos países da África Ocidental, agregando exportações de produtos agrícolas ($) e variáveis macroeconômicas (PIB, população, terras aráveis, investimento linguístico e associação comercial (OMC)) como preditores. O método de estimativa PPML foi empregado devido à sua precisão de previsão, o tamanho dos dados e possíveis problemas de heteroscedasticidade. Com um poder de previsão de 78,5%, o modelo explicou a variação do comércio agrícola Comunidade Económica dos Estados da África Ocidental (CEDEAO) -China (Exportações). GDPj, lnPOPj, lnPOPi e lnARLj, LndLj, ConfInsj e WTOij foram determinantes positivos e estatisticamente significativos do comércio, conforme hipotetizado pela literatura comercial existente. Além disso, a população chinesa (lnPOPj) teve um valor de 0,5877, o que é significativo ao nível de 5%, indicando que um aumento de 1% na população chinesa aumenta significativamente o comércio de produtos agrícolas com os estados da Comunidade Económica dos Estados da África Ocidental (CEDEAO).O coeficiente de distância (Dij) é -4,4573 estatisticamente significativo no nível de 1%, indicando que a distância entre os parceiros impede o fluxo comercial. Existem barreiras não identificadas que atrasam o progresso do comércio de produtos agrícolas entre a Comunidade Económica dos Estados da África Ocidental (CEDEAO) e a China. Com base nas conclusões acima, os investimentos em terras aráveis da Comunidade Económica dos Estados da África Ocidental (CEDEAO) exigem atenção urgente se houver progresso significativo nas exportações. Além disso, os governos de ambos os parceiros devem ajudar a pesquisa e o desenvolvimento agrícola a identificar e retificar as barreiras comerciais sufocantes. Além disso, como o comércio entre a Comunidade Económica dos Estados da África Ocidental (CEDEAO) e a China ainda não atingiu o seu pico, são necessários estudos sobre os determinantes das exportações de produtos agrícolas individuais e potenciais para enriquecer a literatura.


Sujet(s)
Asiatiques , Agriculture , Commerce des Produits
12.
Braz. j. biol ; 83: e249756, 2023. tab, graf
Article de Anglais | LILACS, VETINDEX | ID: biblio-1345533

RÉSUMÉ

Abstract Ri chicken is the most popular backyard chicken breed in Vietnam, but little is known about the growth curve of this breed. This study compared the performances of models with three parameters (Gompertz, Brody, and Logistic) and models containing four parameters (Richards, Bridges, and Janoschek) for describing the growth of Ri chicken. The bodyweight of Ri chicken was recorded weekly from week 1 to week 19. Growth models were fitted using minpack.lm package in R software and Akaike's information criterion (AIC), Bayesian information criterion (BIC), and root mean square error (RMSE) were used for model comparison. Based on these criteria, the models having four parameters showed better performance than the ones with three parameters, and the Richards model was the best one for males and females. The lowest and highest value of asymmetric weights (α) were obtained by Bridges and Brody models for each of sexes, respectively. Age and weight estimated by the Richard model were 8.46 and 7.51 weeks and 696.88 and 487.58 g for males and for females, respectively. Differences in the growth curves were observed between males and female chicken. Overall, the results suggested using the Richards model for describing the growth curve of Ri chickens. Further studies on the genetics and genomics of the obtained growth parameters are required before using them for the genetic improvement of Ri chickens.


Resumo O frango Ri é a raça de frango de quintal mais popular do Vietnã, mas pouco se sabe sobre a curva de crescimento dessa raça. Este estudo comparou o desempenho de modelos com três parâmetros (Gompertz, Brody e Logistic) e modelos contendo quatro parâmetros (Richards, Bridges e Janoschek) para descrever o crescimento do frango Ri. O peso corporal do frango Ri foi registrado semanalmente da semana 1 à semana 19. Os modelos de crescimento foram ajustados usando o pacote minpack.lm no software R e o critério de informação de Akaike (AIC); critério de informação bayesiano (BIC) e erro quadrático médio (RMSE) foram usados ​​para comparação de modelos. Com base nesses critérios, os modelos com quatro parâmetros apresentaram melhor desempenho do que os com três parâmetros, sendo o modelo de Richards o melhor para homens e mulheres. O menor e o maior valor dos pesos assimétricos (α) foram obtidos pelos modelos Bridges e Brody para cada um dos sexos, respectivamente. A idade e o peso estimados pelo modelo de Richard foram de 8,46 e 7,51 semanas e 696,88 e 487,58 g para homens e mulheres, respectivamente. Diferenças nas curvas de crescimento foram observadas entre frangos machos e fêmeas. No geral, os resultados sugeriram o uso do modelo de Richards para descrever a curva de crescimento de frangos Ri. Mais estudos sobre a genética e genômica dos parâmetros de crescimento obtidos são necessários antes de usá-los para o melhoramento genético de frangos Ri.


Sujet(s)
Humains , Animaux , Mâle , Femelle , Poulets , Modèles théoriques , Poids , Théorème de Bayes , Asiatiques , Modèles biologiques
13.
JCO Precis Oncol ; 6: e2200517, 2022 11.
Article de Anglais | MEDLINE | ID: mdl-36370464

RÉSUMÉ

PURPOSE: Whether germline multigene panel testing (MGPT) should be performed in all individuals with colorectal cancer (CRC) remains uncertain. Therefore, we aimed to determine the yield and potential clinical impact of MGPT across a large, diverse CRC cohort. METHODS: This was a retrospective cohort study of adults with CRC who underwent MGPT of > 10 genes at a commercial laboratory between March 2015 and May 2021. All data were prospectively collected through a single commercial laboratory and retrospectively analyzed. RESULTS: A total of 34,244 individuals with a history of CRC underwent germline MPGT and were included in the analysis. This cohort was predominantly female (60.7%), White (70.6%), and age 50 years or older (68.9%), with 35.5% also reporting a noncolorectal malignancy. At least one pathogenic/likely pathogenic germline variant (PGV) was found in 4,864 (14.2%), with 3,111 (9.1%) having a PGV associated with increased CRC/polyposis risk and 1,048 (3.1%) having an otherwise clinically actionable PGV. Larger gene panels were not clearly associated with higher yield of clinically actionable PGVs. PGVs were more prevalent in individuals of Ashkenazi Jewish descent (P < .001) and Hispanic ethnicity (P < .001). Across all ages, panel sizes, and races/ethnicities, the rate of clinically actionable PGVs on MGPT was 7.9% or greater. A variant of uncertain significance was identified in 13,094 individuals (38.2%). Identification of a variant of uncertain significance associated with panel size (P < .001) and was lower in individuals of Ashkenazi Jewish descent (P < .001), but higher in Black, Asian, and Hispanic individuals (P < .001). CONCLUSION: To our knowledge, this is the largest study to date examining MGPT in CRC, demonstrating high rates of clinically actionable variants detected across all age groups, panel sizes, and racial/ethnic groups. This work supports consideration of broadening germline genetic testing criteria for individuals with CRC.


Sujet(s)
Tumeurs colorectales , Dépistage génétique , Adulte , Humains , Femelle , Adulte d'âge moyen , Mâle , Études rétrospectives , Tumeurs colorectales/diagnostic , Asiatiques , Ethnies
14.
Article de Anglais | MEDLINE | ID: mdl-36197420

RÉSUMÉ

Although tuberculosis (TB) is a serious public health concern, we still don't understand why only 10% of people infected will develop the disease. Apoptosis plays a role in the interaction of Mycobacterium tuberculosis (Mtb) with the human host and it may be modified by subtle alterations in the B-cell lymphoma 2 (BCL2) gene, an anti-apoptotic regulatory element. Therefore, we investigated whether there is an association between BCL2 polymorphisms and susceptibility to TB by analyzing 130 TB cases, 108 subjects with latent TB infection (LTBI), and 163 healthy controls (HC). Logistic regression was used to calculate odds ratios (ORs) and 95% confidential intervals (95% CIs) for possible associations between single nucleotide polymorphisms (SNPs) in BCL2 and the risk of tuberculosis. We found that the G allele of rs80030866 (OR=0.62, 95%CI:0.42-0.91, P=0.015), and also the G allele of rs9955190 (OR=0.58, 95%CI:0.38-0.88, P=0.011) were less frequent in the TB group compared with the LTBI group. In addition, individuals with rs2551402 CC genotype were more likely to have LTBI than those with AA genotype (OR=2.166, 95%CI:1.046-4.484, P=0.037). Our study suggests that BCL2 gene polymorphisms may be correlated with susceptibility to both TB and LTBI.


Sujet(s)
Tuberculose latente , Mycobacterium tuberculosis , Tuberculose , Asiatiques , Études cas-témoins , Prédisposition génétique à une maladie/génétique , Humains , Tuberculose latente/génétique , Mycobacterium tuberculosis/génétique , Polymorphisme de nucléotide simple/génétique , Protéines proto-oncogènes c-bcl-2/génétique , Tuberculose/génétique
15.
Braz J Biol ; 84: e264369, 2022.
Article de Anglais | MEDLINE | ID: mdl-36287528

RÉSUMÉ

Panax vietnamensis Ha et Grushv. is a precious medicinal species native to the tropical forests of Vietnam. Due to habitat loss and over-harvesting, this species is endangered in Vietnam. To conserve the species, we investigated genetic variability and population structure using nine microsatellites for 148 individuals from seven populations across the current distribution range of P. vietnamensis in Vietnam. We determined a moderate genetic diversity within populations (HO = 0.367, HE = 0.437) and relatively low population differentiation (the Weir and Cockerham index of 0.172 and the Hedrick index of 0.254) and showed significant differentiation (P < 0.05), which suggested fragmented habitats, over-utilization and over-harvesting of P. vietnamensis. Different clustering methods revealed that individuals were grouped into two major clusters, which were associated with gene flow across the geographical range of P. vietnamensis. This study also detected that ginseng populations can have undergone a recent bottleneck. We recommend measures in future P. vietnamensis conservation and breeding programs.


Sujet(s)
Panax , Humains , Panax/génétique , Panax/composition chimique , Vietnam , Amélioration des plantes , Répétitions microsatellites/génétique , Asiatiques , Variation génétique/génétique
16.
Arch Oral Biol ; 143: 105529, 2022 Nov.
Article de Anglais | MEDLINE | ID: mdl-36058090

RÉSUMÉ

OBJECTIVES: This study aimed to investigate polymorphisms in genes considered molecular biomarkers of type 2 diabetes mellitus (T2DM) to assess whether they are associated with periodontitis, and relating them to the periodontal status, glycemic and lipid profile of the subjects. DESIGN: We investigated individuals who underwent complete periodontal examination and biochemical evaluation. We categorized them into three groups: (i) periodontitis with T2DM (Periodontitis+T2DM group, n = 206); (ii) periodontitis without T2DM (Periodontitis group, n = 346); and (iii) healthy individuals without Periodontitis or T2DM (Healthy group, n = 345). We investigated three single nucleotide polymorphisms (SNPs) for AGER, RBMS1 and VEGFA genes. We applied multivariate logistic and multiple linear regression models for all groups and stratified the subjects by sex and smoking habits. RESULTS: Compared with RBMS1-rs7593730-CC+CT genotype carriers, RBMS1-rs7593730-TT carriers were more susceptible to periodontitis [odds ratio (OR) = 2.29; 95% confidence interval (CI) = 1.04-5.01; P-value = 0.033]. Among AGER-rs184003-CC carriers, never smokers had reduced risks of periodontitis and Periodontitis+T2DM than ever smokers. For either RBMS1-rs7593730-CC or VEGFA-rs9472138-CC carriers, never smokers had less susceptibility to develop periodontitis than ever smokers. Compared with AGER-rs184003-CC carriers, AGER-rs184003-AA carriers presented fewer remaining teeth. VEGFA-rs9472138-TT carriers showed a lower percentage of sites with characteristics of active periodontal disease (bleeding on pocket probing and interproximal clinical attachment level) compared with VEGFA-rs9472138-CC carriers. CONCLUSIONS: In the studied population, AGER rs184003, RBMS1 rs7593730, and VEGFA rs9472138, which are considered genetic markers for T2DM, were associated with periodontitis without T2DM or periodontitis together with T2DM.


Sujet(s)
Diabète de type 2 , Parodontite , Asiatiques , Études cas-témoins , Protéines de liaison à l'ADN/génétique , Diabète de type 2/génétique , Marqueurs génétiques , Prédisposition génétique à une maladie , Humains , Lipides , Parodontite/génétique , Polymorphisme de nucléotide simple , Protéines de liaison à l'ARN/génétique , Récepteur spécifique des produits finaux de glycosylation avancée , Facteur de croissance endothéliale vasculaire de type A
17.
PLoS One ; 17(8): e0271767, 2022.
Article de Anglais | MEDLINE | ID: mdl-35925921

RÉSUMÉ

In this study, we present the results of a genome-wide scan for signatures of positive selection using data from four tribal groups (Kokana, Warli, Bhil, and Pawara) and two caste groups (Deshastha Brahmin and Kunbi Maratha) from West of the Maharashtra State In India, as well as two samples of South Asian ancestry from the 1KG project (Gujarati Indian from Houston, Texas and Indian Telugu from UK). We used an outlier approach based on different statistics, including PBS, xpEHH, iHS, CLR, Tajima's D, as well as two recently developed methods: Graph-aware Retrieval of Selective Sweeps (GRoSS) and Ascertained Sequentially Markovian Coalescent (ASMC). In order to minimize the risk of false positives, we selected regions that are outliers in all the samples included in the study using more than one method. We identified putative selection signals in 107 regions encompassing 434 genes. Many of the regions overlap with only one gene. The signals observed using microarray-based data are very consistent with our analyses using high-coverage sequencing data, as well as those identified with a novel coalescence-based method (ASMC). Importantly, at least 24 of these genomic regions have been identified in previous selection scans in South Asian populations or in other population groups. Our study highlights genomic regions that may have played a role in the adaptation of anatomically modern humans to novel environmental conditions after the out of Africa migration.


Sujet(s)
Asiatiques , Sélection génétique , Génétique des populations , Génomique , Haplotypes , Humains , Inde , Polymorphisme de nucléotide simple , Texas
18.
Philos Trans R Soc Lond B Biol Sci ; 377(1852): 20200419, 2022 06 06.
Article de Anglais | MEDLINE | ID: mdl-35430879

RÉSUMÉ

The population of Mexico has a considerable genetic substructure due to both its pre-Columbian diversity and due to genetic admixture from post-Columbian trans-oceanic migrations. The latter primarily originated in Europe and Africa, but also, to a lesser extent, in Asia. We analyze previously understudied genetic connections between Asia and Mexico to infer the timing and source of this genetic ancestry in Mexico. We identify the predominant origin within Southeast Asia-specifically western Indonesian and non-Negrito Filipino sources-and we date its arrival in Mexico to approximately 13 generations ago (1620 CE). This points to a genetic legacy from the seventeenth century Manila galleon trade between the colonial Spanish Philippines and the Pacific port of Acapulco. Indeed, within Mexico we observe the highest level of this trans-Pacific ancestry in Acapulco, located in the state of Guerrero. This colonial Spanish trade route from East Asia to Europe was centred on Mexico and appears in historical records, but its legacy has been largely ignored. Identities and stories were suppressed due to slavery, assimilation of the immigrants as 'Indios' and incomplete historical records. Here we characterize this understudied Mexican ancestry. This article is part of the theme issue 'Celebrating 50 years since Lewontin's apportionment of human diversity'.


Sujet(s)
Asiatiques , Variation génétique , Asie , Asie du Sud-Est , Génétique des populations , Humains , Mexique , Philippines
19.
Am J Med Genet A ; 188(6): 1688-1692, 2022 06.
Article de Anglais | MEDLINE | ID: mdl-35146903

RÉSUMÉ

NEXMIF pathogenic variants have been known to produce a wide spectrum of X-linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF-related disorders. Herein, we report three individuals with NEXMIF pathogenic variants, the first two are the only males of Korean and Vietnamese descent described with this disorder to our knowledge. The last patient is a Hispanic female who harbors the same pathogenic variant as a previously described Caucasian individual, but with differing clinical presentation. These patients present with many classic symptoms of NEXMIF-related disorders including ID, epilepsy, developmental delay, and dysmorphic features. In addition, they have symptoms that have not been thoroughly described in the literature, including allergies with multiple anaphylactic events and hypothyroidism. This report is intended to raise awareness and educate about the clinical signs that may prompt testing for NEXMIF-related disorders.


Sujet(s)
Déficience intellectuelle , Protéines de tissu nerveux , Asiatiques/génétique , Femelle , Gènes liés au chromosome X , Humains , Déficience intellectuelle/diagnostic , Déficience intellectuelle/génétique , Déficience intellectuelle/métabolisme , Mâle , Protéines de tissu nerveux/génétique , Protéines de tissu nerveux/métabolisme , République de Corée
20.
Child Abuse Negl ; 127: 105573, 2022 05.
Article de Anglais | MEDLINE | ID: mdl-35220073

RÉSUMÉ

India has the highest number of suicides in the world. Indian men account for a quarter of global suicides, while Indian women account for 36% of all global suicides in the 15-39 age group. One suicide every 25 min. These are not isolated incidents. Mental health experts say that one of the main reasons for this situation is rampant domestic violence. India's official data are hugely underestimated and do not convey the true scale of the problem. Women from this country are responsible for 36% of global female suicide deaths. In a country like India, with its wide sociocultural variations, there can be multiple risk factors: hanging, pesticide consumption, drug overdose, and self-immolation. Access to these "lethal" resources is an important factor.


Sujet(s)
Violence domestique , Suicide , Asiatiques , Femelle , Humains , Inde/épidémiologie , Mâle , Répartition par sexe
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