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2.
J Mater Cycles Waste Manag ; : 1-17, 2023 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-37360946

RESUMEN

Construction and demolition waste (CDW) is an environmental problem that affects all regions of the world. Particularly in the Brazilian Amazon Forest region, the volume of CDW generated almost doubled between 2007 and 2019. Indeed, despite Brazil having environmental regulations for waste management, these have been insufficient to solve the environmental problem because there is no CDW reverse supply chain (RSC) properly developed in the Amazon region. Previous studies have proposed a conceptual model of a CDW RSC but have hitherto failed to apply them against real world practice. This paper, therefore, attempts to test existing conceptual models that describe a CDW RSC against real industry practice prior to developing an applied model of a CDW RSC for the Brazilian Amazon. To modify the conceptual model for CDW RSC, qualitative data through 15 semi-structured interviews with five different types of stakeholders of the Amazonian CDW RSC were collected and analyzed using qualitative content analysis methods using NVivo software. The proposed applied model includes present and future reverse logistics (RL) practices, and strategies and tasks necessary for the implementation of a CDW RSC in the city of Belém of Pará, in the Brazilian Amazon. Findings reveal that several overlooked problems, particularly the limitations of the existing legal framework in Brazil, are not enough to promote a robust CDW RSC. This is perhaps the first study to examine CDW RSC in the Amazonian rainforest. Arguments provided in this study highlight the necessity for an Amazonian CDW RSC that must be promoted and regulated by the government. This can be addressed by the utilizing public-private partnership (PPP) for developing a CDW RSC.

4.
Theor Appl Genet ; 136(4): 72, 2023 Mar 23.
Artículo en Inglés | MEDLINE | ID: mdl-36952017

RESUMEN

KEY MESSAGE: Here, we provide an updated set of guidelines for naming genes in wheat that has been endorsed by the wheat research community. The last decade has seen a proliferation in genomic resources for wheat, including reference- and pan-genome assemblies with gene annotations, which provide new opportunities to detect, characterise, and describe genes that influence traits of interest. The expansion of genetic information has supported growth of the wheat research community and catalysed strong interest in the genes that control agronomically important traits, such as yield, pathogen resistance, grain quality, and abiotic stress tolerance. To accommodate these developments, we present an updated set of guidelines for gene nomenclature in wheat. These guidelines can be used to describe loci identified based on morphological or phenotypic features or to name genes based on sequence information, such as similarity to genes characterised in other species or the biochemical properties of the encoded protein. The updated guidelines provide a flexible system that is not overly prescriptive but provides structure and a common framework for naming genes in wheat, which may be extended to related cereal species. We propose these guidelines be used henceforth by the wheat research community to facilitate integration of data from independent studies and allow broader and more efficient use of text and data mining approaches, which will ultimately help further accelerate wheat research and breeding.


Asunto(s)
Fitomejoramiento , Triticum , Triticum/genética , Fenotipo , Genes de Plantas , Grano Comestible/genética
5.
Sci Rep ; 13(1): 575, 2023 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-36631529

RESUMEN

Tungsten heavy alloys have been proposed as plasma facing material components in nuclear fusion reactors and require experimental investigation in their confirmation. For this purpose, a 90W-7Ni-3Fe alloy has been selected and microstructurally manipulated to present a multiphase brick-and-mortar structure of W-phase 'bricks' surrounded by a ductile 'mortar'. This work draws inspiration from nature to artificially imitate the extraordinary combination of strength and stiffness exhibited by mollusks and produce a nacre-mimicking metal matrix composite capable of withstanding the extremely hostile environment of the reactor interior and maintaining structural integrity. The underlying mechanisms behind this integrity have been probed through high-resolution structural and chemical characterization techniques and have revealed chemically diffuse phase boundaries exhibiting unexpected lattice coherency. These features have been attributed to an increase in the energy required for interfacial decohesion in these systems and the simultaneous expression of high strength and toughness in tungsten heavy alloys.

6.
J Laryngol Otol ; 137(7): 718-724, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36382425

RESUMEN

OBJECTIVE: A literature review and meta-analysis was performed to assess for difference in rate of complications and need for revision surgery between endoscopic stapler-assisted diverticulotomy and endoscopic carbon dioxide laser diverticulotomy. The hypothesis was that endoscopic stapler-assisted diverticulotomy has a lower complication rate but endoscopic carbon dioxide laser diverticulotomy has a lower need for revision surgery. METHOD: This was a systematic review of English-language studies comparing endoscopic stapler-assisted diverticulotomy and endoscopic carbon dioxide laser diverticulotomy for the treatment of Zenker's diverticulum. Meta-analysis of results with regard to rate of pharyngeal perforation, major post-operative complication and need for re-operation was performed. RESULTS: Nine retrospective studies were included with pooled analysis of 417 endoscopic stapler-assisted diverticulotomy and 413 endoscopic carbon dioxide laser diverticulotomy cases. Meta-analysis found no significant difference in rate of pharyngeal perforation, major complication or need for re-operation between the two groups. CONCLUSION: This study demonstrated both endoscopic stapler-assisted diverticulotomy and endoscopic carbon dioxide laser diverticulotomy to be a safe alternative to open surgery for Zenker's diverticulum. Both appear to be similar in terms of adverse events and efficacy. The authors recommend either approach, guided by surgeon's preference and experience, where patients are unsuitable for an open surgery approach.


Asunto(s)
Terapia por Láser , Enfermedades Faríngeas , Divertículo de Zenker , Humanos , Estudios Retrospectivos , Divertículo de Zenker/cirugía , Endoscopía , Rayos Láser , Terapia por Láser/efectos adversos , Terapia por Láser/métodos , Enfermedades Faríngeas/etiología , Esofagoscopía/métodos , Resultado del Tratamiento
7.
J Laryngol Otol ; 137(9): 1022-1026, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36167605

RESUMEN

BACKGROUND: This study aimed to establish whether histology tonsillectomy is justified for unilateral tonsil enlargement. METHODS: A retrospective review was conducted of histology tonsillectomies in three health organisations over five years, with strict exclusion criteria, focusing on benign-appearing unilateral tonsil enlargement. RESULTS: Ninety paediatric and 233 adult cases were included. No paediatric cases and five adult cases of malignancy were detected. All malignant cases presented with other symptoms. Using binary logistic regression, a history of rapid unilateral tonsil enlargement was the only factor found to be significantly associated with malignant outcome. Thirty-three per cent of subjectively larger tonsils were smaller on post-operative histological measurement. Of the cases, 12.1 per cent re-presented with post-tonsillectomy bleeding. CONCLUSION: The authors recommend avoiding histology tonsillectomy for unilateral tonsil enlargement unless 'red flag' signs of malignancy are present, with particular attention to rapid unilateral tonsil enlargement. This study demonstrated discrepancy between clinical examination findings and true tonsil asymmetry; there may be a role for cross-sectional imaging prior to histology tonsillectomy in high-risk patients.


Asunto(s)
Tonsila Faríngea , Neoplasias Tonsilares , Tonsilectomía , Humanos , Niño , Adulto , Tonsila Palatina/cirugía , Tonsilectomía/métodos , Neoplasias Tonsilares/patología , Estudios Retrospectivos , Tonsila Faríngea/patología , Hipertrofia/cirugía
8.
PLoS One ; 17(9): e0273408, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36048901

RESUMEN

Access to antiretroviral therapy (ART) led to epidemiological changes in human immunodeficiency virus (HIV) associated lymphoma in high-income countries such as reductions in diffuse large B-cell lymphoma (DLBCL) and stable or increased Hodgkin lymphoma (HL) and Burkitt lymphoma (BL). In 2016, Malawi implemented a universal ART (UART) policy, expanding ART eligibility to all persons living with HIV (PLWH). We compare the distribution of lymphoma subtypes and baseline HIV and prognostic characteristics for lymphoma patients in Malawi before and after implementation of UART. We enrolled patients with pathologically confirmed incident lymphoproliferative disorders into a observational clinical cohort. At diagnosis, a comprehensive clinicopathological evaluation was performed. Of 412 participants, 156 (38%) were pre-UART (2013-June 2016) and 256 (62%) post-UART (July 2016-2020). HIV prevalence was 50% in both groups. The most common pre-UART diagnoses were DLBCL [75 (48%)], low-grade non-Hodgkin lymphoma (NHL) [19 (12%)], HL [17 (11%)] and, BL [13 (8%)]. For post-UART they were DLBCL [111 (43%)], NHL [28 (11%)], BL [27 11%)] and, HL [20 (8%)]. Among PLWH, 44 (57%) pre-UART initiated ART prior to lymphoma diagnosis compared to 99 (78%) post-UART (p = 0.02). HIV-ribonucleic acid was suppressed <1000 copies/mL in 56% (33/59) pre-UART and 71% (73/103) post-UART (p = 0.05). CD4 T-cell counts were similar for both groups. We observed similar findings in the subset of participants with DLBCL. Overall, there were no significant changes in incident lymphoma subtypes (p = 0.61) after implementation of UART, but HIV was better controlled. Emerging trends bear monitoring and may have implications for prognosis and health system priority setting. Trial registration: ClinicalTrials.gov identifier: NCT02835911.


Asunto(s)
Linfoma de Burkitt , Infecciones por VIH , Enfermedad de Hodgkin , Linfoma de Células B Grandes Difuso , Antirretrovirales/uso terapéutico , Linfoma de Burkitt/tratamiento farmacológico , Linfoma de Burkitt/epidemiología , Recuento de Linfocito CD4 , Infecciones por VIH/tratamiento farmacológico , Infecciones por VIH/epidemiología , Enfermedad de Hodgkin/tratamiento farmacológico , Enfermedad de Hodgkin/epidemiología , Enfermedad de Hodgkin/patología , Humanos , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Linfoma de Células B Grandes Difuso/epidemiología , Malaui/epidemiología
10.
Phys Ther ; 102(4)2022 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-35224644

RESUMEN

OBJECTIVE: The purpose of this study was to determine the association between baseline patient recovery expectations and outcomes following physical therapy care. METHODS: PubMed, CINAHL Complete, PEDro, SPORTDiscus, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, and PsycINFO were searched from inception to February 2021. Concepts represented in the search included physical therapy, patient expectations, patient outcomes, and their relevant synonyms. Two reviewers independently screened studies of article abstracts and full texts. Eligibility criteria included English language studies that evaluated adults seeking physical therapist intervention for any health condition where both patient outcome (recovery) expectations and functional or other outcome measures were reported. Methodologic standards were assessed using the Critical Appraisal Skills Program criteria. Data were extracted using a custom template for this review with planned descriptive reporting of results. Vote counting was used to measure reported outcomes. RESULTS: Twenty-one studies were included in this review, representing 4879 individuals. Studies were most commonly prospective cohort studies or secondary analyses of controlled trials. Varied expectation, outcome, and statistical measures that generally link patient recovery expectations with self-reported outcomes in musculoskeletal practice were used. CONCLUSION: Patient recovery expectations are commonly associated with patient outcomes in musculoskeletal physical therapy. IMPACT: Evidence supports measuring baseline patient expectations as part of a holistic examination process.


Asunto(s)
Motivación , Fisioterapeutas , Adulto , Humanos , Estudios Prospectivos
11.
Evid Based Dent ; 22(4): 162-163, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34916651

RESUMEN

Data sources Medline/PubMed, Web of Science, Scopus and Cochrane Library databases. Grey literature searches (OpenGrey, ProQuest databases), hand searches in the reference list of eligible studies and relevant journals.Study selection Randomised controlled trials (RCTs) and prospective clinical trials (PCTs) with direct comparisons between metal posts (MPs) and fibre posts (FPs). Trials contained a minimum of ten patients and endodontically treated permanent teeth that had received either single crowns or fixed partial dentures (bridges) and followed up for a minimum of one year. The primary outcome compared the difference in failure rates between FPs and MPs, with subgroup analysis comparing location (anterior/posterior), type of MP (cast post core/preformed MP) and most frequent modes of failure (debond/root fracture).Data extraction and synthesis Study selection, data collection and risk of bias assessments were completed independently by two reviewers. Disagreements were discussed with a third reviewer to reach a consensus. The risk of bias was evaluated using the Cochrane risk of bias tool (RCTs) or the ROBINS-I tool (PCTs). The quality of responses was assessed using the Grading of Recommendations Assessment, Development And Evaluation (GRADE) approach. The meta-analysis (MA) was performed using the Mantel-Haenszel method. Trial heterogeneity was assessed using random- and fixed-effects models. Inter-examiner agreement during the database search and study selection process was checked using the kappa statistic.Results After duplicates were removed, 1,026 articles were assessed and screened by title and abstract. Of these, 21 articles underwent full-text evaluation, with ten articles meeting the eligibility criteria. Eligible studies included six RCTs and four PCTs. A total of 844 endodontically treated teeth (ETT) were restored with intra-radicular posts in 704 participants. Four hundred and fifty-three ETT were restored with FPs and 391 with MPs. The mean age of participants was 42.7 (33.95-55.45) years, with a mean follow-up period of 50.95 (12-154) months. Most studies reported failures during the follow-up period, but the MA revealed no significant difference between FPs and MPs in terms of failure rates (P = 0.39; RR: 0.82 mm; CI: 0.52-1.29). Sub-analysis showed no difference in failure rates between anterior and posterior regions and no difference when comparing FPs to cast post and core vs prefabricated MPs. Root fractures and post debondings were the most common modes of failure, but within these failures, no difference was observed between FPs and MPs.Conclusions No evidence was identified for a difference in failure rates between FPs and MPs. This was independent of the type of MP and position within the arch. Reporting of RCTs and PCTs was variable and further high-quality studies are needed.


Asunto(s)
Técnica de Perno Muñón , Diente no Vital , Adulto , Coronas , Humanos , Metales , Persona de Mediana Edad , Estudios Prospectivos
12.
Syst Rev ; 10(1): 231, 2021 08 13.
Artículo en Inglés | MEDLINE | ID: mdl-34389054

RESUMEN

BACKGROUND: Sarcomas are a rare and heterogeneous group of tumors originating from mesenchymal or connective tissue. They represent less than 1% of all adult cancers. The etiology and epidemiology of sarcomas remain understudied and poorly understood. The main objective of our study was to systematically assess the association between various occupational exposures and risk of sarcomas. METHODS: We performed a systematic literature search using the PubMed, Scopus, EMBASE and Cochrane databases to identify relevant cohort and case-control studies. A meta-analysis method was applied on the incidence and mortality outcomes where the estimate with 95% confidence interval (CI) was obtained. RESULTS: We included a total of 50 publications in our systematic review and 35 in meta-analysis. For exposures to phenoxy herbicides and chlorophenols, the pooled odds ratio (OR) for sarcoma was 1.85 (95% CI: 1.22, 2.82), based on 16 studies with 2254 participants, while the pooled standardized mortality ratio was 40.93 (95% CI 2.19, 765.90), based on 4 cohort studies with 59,289 participants. For exposure to vinyl chloride monomers the pooled risk ratios for angiosarcoma of the liver and other STS were 19.23 (95% CI 2.03, 182.46) and 2.23 (95 CI 1.55, 3.22) respectively based on 3 cohort studies with 12,816 participants. Exposure to dioxins was associated with an increased STS mortality; the pooled standardized mortality ratio was 2.56 (95% CI 1.60, 4.10) based on 4 cohort studies with 30,797 participants. Finally, woodworking occupation was associated with an increased risk of STS with the pooled OR of 2.16 (95% CI 1.39, 3.36). CONCLUSIONS: Our findings suggest a positive association between higher exposure to dioxins and increased mortality from STS, between cumulative exposure to vinyl chloride monomers and increased mortality from angiosarcoma of the liver and STS, and between woodworking occupation and STS incidence. These findings were all statistically significant.


Asunto(s)
Enfermedades Profesionales , Exposición Profesional , Sarcoma , Adulto , Estudios de Cohortes , Humanos , Incidencia , Enfermedades Profesionales/epidemiología , Exposición Profesional/efectos adversos , Sarcoma/epidemiología , Sarcoma/etiología
14.
J Laryngol Otol ; 135(3): 259-263, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33509309

RESUMEN

OBJECTIVE: Treatment of locally advanced hypopharyngeal cancer can cause significant morbidity and late toxicity. Pharyngo-laryngo-oesophagectomy can achieve adequate surgical margins, but data on survival and functional outcome are limited, especially in Wales. This study aimed to describe mortality, morbidity and functional outcome following pharyngo-laryngo-oesophagectomy in a Welsh population. METHOD: This study was a retrospective case note review of pharyngo-laryngo-oesophagectomy cases in Wales over 12 years. RESULTS: Fifteen patients underwent pharyngo-laryngo-oesophagectomy; all but one underwent gastric pull-up. Median survival and disease-free survival were 17 months (range, 2-53 months) and 14 months. Censored 3-month, 1-year and 3-year survival was 93, 71 and 50 per cent, respectively. Common Terminology Criteria for Adverse Events grading of long-term dysphagia was 1 in 58 per cent, 2 in 33 per cent and 3 in 8 per cent, and 87.5 per cent achieved a 'moderate' or 'good' voice rehabilitation. CONCLUSION: These results demonstrate favourable survival and reasonable functional outcome following pharyngo-laryngo-oesophagectomy, suggesting pharyngo-laryngo-oesophagectomy should be considered in all appropriate surgical candidates.


Asunto(s)
Terapia Combinada/mortalidad , Esofagectomía/mortalidad , Neoplasias Hipofaríngeas/cirugía , Laringectomía/mortalidad , Faringectomía/mortalidad , Supervivencia sin Enfermedad , Esofagectomía/métodos , Femenino , Humanos , Neoplasias Hipofaríngeas/mortalidad , Laringectomía/métodos , Masculino , Persona de Mediana Edad , Faringectomía/métodos , Estudios Retrospectivos , Tasa de Supervivencia , Resultado del Tratamiento , Gales
15.
J Public Health (Oxf) ; 43(1): 82-88, 2021 04 12.
Artículo en Inglés | MEDLINE | ID: mdl-33124664

RESUMEN

BACKGROUND: There is a high prevalence of COVID-19 in university-age students, who are returning to campuses. There is little evidence regarding the feasibility of universal, asymptomatic testing to help control outbreaks in this population. This study aimed to pilot mass COVID-19 testing on a university research park, to assess the feasibility and acceptability of scaling up testing to all staff and students. METHODS: This was a cross-sectional feasibility study on a university research park in the East of England. All staff and students (5625) were eligible to participate. All participants were offered four PCR swabs, which they self-administered over two weeks. Outcome measures included uptake, drop-out rate, positivity rates, participant acceptability measures, laboratory processing measures, data collection and management measures. RESULTS: 798 (76%) of 1053 who registered provided at least one swab; 687 (86%) provided all four; 792 (99%) of 798 who submitted at least one swab had all negative results and 6 participants had one inconclusive result. There were no positive results. 458 (57%) of 798 participants responded to a post-testing survey, demonstrating a mean acceptability score of 4.51/5, with five being the most positive. CONCLUSIONS: Repeated self-testing for COVID-19 using PCR is feasible and acceptable to a university population.


Asunto(s)
Prueba de Ácido Nucleico para COVID-19 , COVID-19/diagnóstico , Tamizaje Masivo , Adolescente , Adulto , Anciano , Enfermedades Asintomáticas , Estudios Transversales , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Reino Unido , Universidades , Adulto Joven
16.
Sci Adv ; 6(31): eaba8437, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32832684

RESUMEN

The nondestructive investigation of single vacancies and vacancy clusters in ion-irradiated samples requires a depth-resolved probe with atomic sensitivity to defects. The recent development of short-pulsed positron beams provides such a probe. Here, we combine depth-resolved Doppler broadening and positron annihilation lifetime spectroscopies to identify vacancy clusters in ion-irradiated Fe and measure their density as a function of depth. Despite large concentrations of dislocations and voids in the pristine samples, positron annihilation measurements uncovered the structure of vacancy clusters and the change in their size and density with irradiation dose. When combined with transmission electron microscopy measurements, the study demonstrates an association between the increase in the density of small vacancy clusters with irradiation and a remarkable reduction in the size of large voids. This, previously unknown, mechanism for the interaction of cascade damage with voids in ion-irradiated materials is a consequence of the high porosity of the initial microstructure.

17.
Knee Surg Relat Res ; 32(1): 4, 2020 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-32660639

RESUMEN

BACKGROUND: Chronic bone marrow lesions (BML) in the weight-bearing portions of the knee are often associated with symptomatic degenerative arthritis resulting in pain and dysfunction. Injection of bone substitute material like calcium phosphate has been described. Whilst some studies have reported encouraging results others have shown limited benefit of this technique. AIM: The aim was to collate the available evidence on the injection of calcium phosphate and systematically evaluate the results to answer the questions encountered in clinical decision making: (1) does it provide effective long-lasting pain relief to avoid further surgical intervention? (2) which factors (patient/surgical) significantly influence the outcome? and (3) does it adversely affect the outcomes of subsequent arthroplasty? METHODS: A literature search was performed to identify the studies describing the clinical outcomes of calcium phosphate injection for treatment of BML. We evaluated the reported clinical outcomes with respect to pain, function and complications. Isolated case reports and studies with no objective assessment of clinical outcomes were excluded. RESULTS: We noted 46 articles in the current literature of which 8 described clinical outcomes of calcium phosphate injection. Mean (plus/minus SD) score on the visual analog scale (VAS) has been reported to improve from 7.90 (± 0.38) to 2.76 (± 0.90), whereas the International Knee Documentation Committee (IKDC) score improved from 30.5 (SD not reported (NR)) to 53.0 (SD NR). Pre and post procedure Short form survey (SF-12) scores were 29.8 (SD NR) and 36.7 (SD NR), respectively. In one study, scores on the Tegner Lysholm knee scoring scale improved in 12 out of 22 patients, whereas the remainder had no change in symptoms. Extravasation of calcium phosphate into the joint was the most common complication, whereas no adverse effect has been reported on subsequent arthroplasty. CONCLUSION: Limited data from the published studies would suggest that calcium phosphate injection of BML may potentially improve pain and function. However, no evidence is currently available to clearly identify patient/surgical factors that may influence the long-term outcomes of this procedure. Hence pragmatic, prospective studies with stratified patient cohorts and robust reporting of outcome measures are essential to improve the understanding of the indications and clinical effectiveness of this novel procedure.

18.
Horm Behav ; 123: 104665, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-31904360

RESUMEN

Transient shifts in testosterone occur during competition and are thought to positively influence dominance behavior aimed at enhancing social status. However, individual differences in testosterone reactivity to status contests have not been well-studied in relation to real-time expressions of competitive behavior among men and women. This research tests the association between changes in endogenous testosterone levels during competition and performance in terms of competitive endurance. Participant sex, social presence, and relative status outcomes (e.g., winning vs. losing) are tested as moderators of this relationship. In two studies, men and women (total N = 398) competed in the competitive will task (timed weight-holding) either individually or in the presence of an opponent (Study 1) or as a team with and without the presence of a competitor team (Study 2). Results showed a positive relationship between testosterone reactivity and performance for men, particularly those who won or ranked highest among their group - with increasing testosterone predicting better performance and decreasing testosterone predicting worse performance. For women, the effect only emerged among individuals who competed in dyads and lost. In Study 2, an exploratory mediation analysis revealed that individual differences in trait dominance predicted both testosterone reactivity to competition and task performance, with testosterone reactivity (moderated by sex and status outcome) partially explaining the direct relationship between dominance-related traits and behavior. Our goal was to examine testosterone reactivity in relation to real-time competitive effort and highlight the potential role of this relationship in explaining how individual differences in trait dominance produce competitive behavior.


Asunto(s)
Conducta Competitiva/fisiología , Motivación/fisiología , Testosterona/metabolismo , Volición/fisiología , Adolescente , Adulto , Femenino , Humanos , Masculino , Distancia Psicológica , Saliva/química , Saliva/metabolismo , Caracteres Sexuales , Testosterona/análisis , Rendimiento Laboral , Adulto Joven
19.
Nat Commun ; 10(1): 4857, 2019 10 24.
Artículo en Inglés | MEDLINE | ID: mdl-31649266

RESUMEN

Uterine leiomyomata (UL) are the most common neoplasms of the female reproductive tract and primary cause for hysterectomy, leading to considerable morbidity and high economic burden. Here we conduct a GWAS meta-analysis in 35,474 cases and 267,505 female controls of European ancestry, identifying eight novel genome-wide significant (P < 5 × 10-8) loci, in addition to confirming 21 previously reported loci, including multiple independent signals at 10 loci. Phenotypic stratification of UL by heavy menstrual bleeding in 3409 cases and 199,171 female controls reveals genome-wide significant associations at three of the 29 UL loci: 5p15.33 (TERT), 5q35.2 (FGFR4) and 11q22.3 (ATM). Four loci identified in the meta-analysis are also associated with endometriosis risk; an epidemiological meta-analysis across 402,868 women suggests at least a doubling of risk for UL diagnosis among those with a history of endometriosis. These findings increase our understanding of genetic contribution and biology underlying UL development, and suggest overlapping genetic origins with endometriosis.


Asunto(s)
Endometriosis/genética , Leiomioma/genética , Neoplasias Uterinas/genética , Adulto , Proteínas de la Ataxia Telangiectasia Mutada/genética , Endometriosis/epidemiología , Femenino , Proteína Forkhead Box O1/genética , Proteína Forkhead Box O1/metabolismo , Estudio de Asociación del Genoma Completo , Humanos , Leiomioma/complicaciones , Leiomioma/epidemiología , Análisis de la Aleatorización Mendeliana , Menorragia/etiología , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Modelos de Riesgos Proporcionales , Receptor Tipo 4 de Factor de Crecimiento de Fibroblastos/genética , Transducción de Señal , Telomerasa/genética , Neoplasias Uterinas/complicaciones , Neoplasias Uterinas/epidemiología , Población Blanca/genética
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