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Osteochondroplastic tracheobronchopathy: Four case reports. 骨软骨增生性气管支气管病:四份病例报告
IF 1.2
Medwave Pub Date : 2024-04-08 DOI: 10.5867/medwave.2024.03.2792
Luis Alejandro Rodríguez Hidalgo, Natalia Carolina Cribillero Meza, Diana Cecilia Ruíz Caballero, L. C. Concepción Urteaga, Amalia Guadalupe Vega Fernández, Jorge Luis Cornejo Portella
{"title":"Osteochondroplastic tracheobronchopathy: Four case reports.","authors":"Luis Alejandro Rodríguez Hidalgo, Natalia Carolina Cribillero Meza, Diana Cecilia Ruíz Caballero, L. C. Concepción Urteaga, Amalia Guadalupe Vega Fernández, Jorge Luis Cornejo Portella","doi":"10.5867/medwave.2024.03.2792","DOIUrl":"https://doi.org/10.5867/medwave.2024.03.2792","url":null,"abstract":"Introduction\u0000Osteochondroplastic tracheobronchopathy is a rare benign chronic disease of unknown etiology. Bronchoscopy remains the gold standard for diagnosing osteochondroplastic tracheobronchopathy. Its typical findings are described as a cobblestone, rock garden, mountainscape, or stalactite cave appearance. The present work aims to show the main clinical features of this rare pathology.\u0000\u0000\u0000Clinical cases\u0000The clinical data of four middle-aged patients, three men and one woman, were analyzed. The main clinical symptoms were chronic cough, dyspnea, and dysphonia. The patient's preliminary diagnosis was made by computed axial tomography of the chest, confirmed by bronchoscopy and histopathological examination. Treatment included medication for symptoms and, in one case, cryosurgery and argon plasma coagulation.\u0000\u0000\u0000Discussion\u0000Diagnosing osteochondroplastic tracheobronchopathy was not easy, given its uncommon nature and non-specific symptoms often found in other pathologies. No case series articles on this pathology have been published in Peru. Therefore, we used the original articles published in other countries to reference our findings.\u0000\u0000\u0000Conclusion\u0000Osteochondroplastic tracheopathy is a benign disease that typically affects adults. Men are more likely to be affected. Its clinical manifestations are non-specific and frequently of pharyngeal origin, and the cause is not yet defined. Chest computed axial tomography combined with bronchoscopy are the main diagnostic procedures. There is no standard treatment with consistent therapeutic effects.","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140731619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical and radiographic characterization of external root resorption. 外牙根吸收的临床和放射学特征。
IF 1.2
Medwave Pub Date : 2024-04-04 DOI: 10.5867/medwave.2024.03.2780
Agustina Buchi-Velazquez, Daniela Escobar-Torres, Valentina Veloso, Nicolás Ferraro
{"title":"Clinical and radiographic characterization of external root resorption.","authors":"Agustina Buchi-Velazquez, Daniela Escobar-Torres, Valentina Veloso, Nicolás Ferraro","doi":"10.5867/medwave.2024.03.2780","DOIUrl":"https://doi.org/10.5867/medwave.2024.03.2780","url":null,"abstract":"Introduction\u0000The following bibliographic review was carried out with the purpose of recognizing the clinical and radiographic characteristics that must be considered in the diagnosis of external root resorption, including treatments.\u0000\u0000\u0000Methods\u0000A bibliographic search was carried out in PubMed/Medline, Cochrane Library and Google Scholar databases under the term \"external root resorption\", from 2010 to 2022 in Spanish and English. Experimental studies and bibliographic reviews were selected, and finally 17 articles were included.\u0000\u0000\u0000Results\u0000The results obtained indicated that each type of resorption presents specific clinical characteristics that differentiate them, these are: for external inflammatory resorption a negative pulp vitality; for replacement external resorption the absence of mobility and metallic percussion; for cervical external resorption a pink coloration of the crown; superficial external resorption does not present any type of clinical symptoms and transient apical collapse presents a transient change in color.\u0000\u0000\u0000Conclusion\u0000External root resorptions require accurate and early diagnosis. A clinical examination should be performed with emphasis on the following: probing, coloration, mobility, and vitality tests.","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140742087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Accreditation systems for midwifery training programs worldwide: A scoping review. 全球助产士培训项目的认证体系:范围审查。
IF 1.2
Medwave Pub Date : 2024-04-02 DOI: 10.5867/medwave.2024.03.2800
J. Ortiz-Contreras, Rodrigo Orellana-Cole, Pablo Galvez-Ortega, Sol East
{"title":"Accreditation systems for midwifery training programs worldwide: A scoping review.","authors":"J. Ortiz-Contreras, Rodrigo Orellana-Cole, Pablo Galvez-Ortega, Sol East","doi":"10.5867/medwave.2024.03.2800","DOIUrl":"https://doi.org/10.5867/medwave.2024.03.2800","url":null,"abstract":"Accreditation of midwifery training programs aims to improve the quality of midwifery education and care. The study aimed to diagnose the accreditation systems of midwifery programs worldwide, identifying characteristics, standards, and differences. According to Arksey and O'Malley's framework, a scoping review was conducted by searching databases, grey literature, and accreditation system websites. A total of 2574 articles and 198 websites related to education accreditation were identified, selecting 47 that addressed midwifery programs. The results show that while a global accreditation system in midwifery from the International Confederation of Midwives exists, it has been scarcely used. There is considerable heterogeneity across accreditation systems, with higher-income countries having more robust and specific systems. In contrast, accreditation is less common in lower-income countries and often depends on international support. The diversity across accreditation systems reflects differing needs, resources, and cultural approaches. The need for standardization and global improvement of accreditation systems is highlighted. Strengthening the International Confederation of Midwives accreditation system as a global system, with standards adaptable to each country or region according to their local contexts, could be key to advancing the professionalization and recognition of midwifery worldwide.","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140754421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mental telehealth in a public child and adolescent psychiatry unit during the pandemic: a qualitative implementation study. 大流行期间公立儿童和青少年精神病科的心理远程保健:定性实施研究。
IF 1.2
Medwave Pub Date : 2024-03-21 DOI: 10.5867/medwave.2024.02.2777
Francisca García, Melannie Klagges, Fanny Leyton, Ingrid Nogales, Carolina Mickman, Claudio Martínez, Alemka Tomicic
{"title":"Mental telehealth in a public child and adolescent psychiatry unit during the pandemic: a qualitative implementation study.","authors":"Francisca García, Melannie Klagges, Fanny Leyton, Ingrid Nogales, Carolina Mickman, Claudio Martínez, Alemka Tomicic","doi":"10.5867/medwave.2024.02.2777","DOIUrl":"10.5867/medwave.2024.02.2777","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic led to a prompt implementation of remote care, especially in mental health care. The evidence supporting this modality of care is still emerging, with few qualitative studies describing its implementation in Latin American countries. This study aims to understand the perspectives of therapists and patients regarding the use of telehealth in a child and adolescent mental health unit of a Chilean public service.</p><p><strong>Methods: </strong>This is a qualitative study. Two focus groups were defined with 14 professionals, and 16 in-depth interviews were conducted with users of an outpatient child and adolescent psychiatry unit. The data were analyzed using the grounded theory model.</p><p><strong>Results: </strong>In the group of therapists, four main categories emerged: background of mental telehealth, implementation, mental telehealth from the therapist's position, and projections. Three main categories emerged in the patient's group: implementation, evaluation of mental telehealth users, and projections.</p><p><strong>Conclusions: </strong>There are elements in common between the opinions of patients and therapists. Something to note within the patient's group is that, despite accepting remote care and recognizing its positive aspects, aside from the pandemic context, they prefer face-to-face or mixed care.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184853","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Developing a breast cancer screening decision aid in Spanish for average-risk women: a mixed methods study. 用西班牙语为普通风险妇女开发乳腺癌筛查决策辅助工具:一项混合方法研究。
IF 1.2
Medwave Pub Date : 2024-03-14 DOI: 10.5867/medwave.2024.02.2726
Paula Riganti, María Victoria Ruiz Yanzi, Juan Victor Ariel Franco, Josefina Chiodi, Mónica Regueiro, Karin Silvana Kopitowski
{"title":"Developing a breast cancer screening decision aid in Spanish for average-risk women: a mixed methods study.","authors":"Paula Riganti, María Victoria Ruiz Yanzi, Juan Victor Ariel Franco, Josefina Chiodi, Mónica Regueiro, Karin Silvana Kopitowski","doi":"10.5867/medwave.2024.02.2726","DOIUrl":"10.5867/medwave.2024.02.2726","url":null,"abstract":"<p><strong>Introduction: </strong>We aimed to develop a decision aid to support shared-decision making between physicians and women with average breast cancer risk when deciding whether to participate in breast cancer screening.</p><p><strong>Methods: </strong>We included women at average risk of breast cancer and physicians involved in supporting the decision of breast cancer screening from an Academic Hospital in Buenos Aires, Argentina. We followed the International Patient Decision Aid Standards to develop our decision aid. Guided by a steering group and a multidisciplinary consultancy group including a patient advocate, we reviewed the evidence about breast cancer screening and previous decision aids, explored the patients' information needs on this topic from the patients' and physicians' perspective using semi-structured interviews, and we alpha-tested the prototype to determine its usability, comprehensibility and applicability.</p><p><strong>Results: </strong>We developed the first prototype of a web-based decision aid to use during the clinical encounter with women aged 40 to 69 with average breast cancer risk. After a meeting with our consultancy group, we developed a second prototype that underwent alpha-testing. Physicians and patients agreed that the tool was clear, useful and applicable during a clinical encounter. We refined our final prototype according to their feedback.</p><p><strong>Conclusion: </strong>We developed the first decision aid in our region and language on this topic, developed with end-users' input and informed by the best available evidence. We expect this decision aid to help women and physicians make shared decisions during the clinical encounter when talking about breast cancer screening.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140131824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Emergency preparedness and response sensitive of migrant populations in Chile: post-pandemic perspectives. 智利移民的应急准备和反应敏感性:大流行后的视角。
IF 1.2
Medwave Pub Date : 2024-03-13 DOI: 10.5867/medwave.2024.02.2788
Alice Blukacz, Báltica Cabieses, Alexandra Obach, Alejandra Carreño, Edward Mezones-Holguín
{"title":"Emergency preparedness and response sensitive of migrant populations in Chile: post-pandemic perspectives.","authors":"Alice Blukacz, Báltica Cabieses, Alexandra Obach, Alejandra Carreño, Edward Mezones-Holguín","doi":"10.5867/medwave.2024.02.2788","DOIUrl":"10.5867/medwave.2024.02.2788","url":null,"abstract":"<p><p>On August 31, 2023, the Chilean government ended the health alert for COVID-19. This milestone invites us to reflect on lessons learned in emergency preparedness and response regarding migrant populations in the country. In this context, three perspectives are presented. The first focuses on avoiding pointing to individual responsibility for non-compliance with prevention measures, as this approach ignores structural and historical inequities. Emergency recommendations should be constructed considering a collective approach and diverse sociocultural and political contexts. The second perspective calls for considering and addressing migration as a social determinant of health. During the pandemic, changes in the governance of migration around the world made migration processes more precarious, with risks to the physical and mental health of migrants, which needs better planning and evidence-based decision-making in future pandemics. The third perspective focuses on promoting intercultural health, as effective communication of contagion risks and preventive measures were hampered among migrant populations with diverse worldviews and interpretations of health and disease processes. Responding to the needs of historically marginalized communities requires establishing ways of life that respect diversity in narratives and everyday practices. Governments and health systems must incorporate migration into their emergency preparedness and response strategies, creating the conditions for optimal compliance.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140120072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of suicidal behavior in Coquimbo, Chile, between 2018 and 2020. 2018 年至 2020 年期间智利科金博自杀行为的特征。
IF 1.2
Medwave Pub Date : 2024-03-05 DOI: 10.5867/medwave.2024.02.2770
Patricia Paz-Soto, Larry Games-Díaz, Muriel Ramírez-Santana
{"title":"Characterization of suicidal behavior in Coquimbo, Chile, between 2018 and 2020.","authors":"Patricia Paz-Soto, Larry Games-Díaz, Muriel Ramírez-Santana","doi":"10.5867/medwave.2024.02.2770","DOIUrl":"10.5867/medwave.2024.02.2770","url":null,"abstract":"<p><strong>Introduction: </strong>Suicidal behavior is a public health problem worldwide. The World Health Organization estimated 700 000 deaths for the year 2021.</p><p><strong>Objective: </strong>This study aimed to estimate the prevalence of suicidal behavior and describe its related factors in the Coquimbo Region, Chile, between 2018 and 2020.</p><p><strong>Methods: </strong>2190 suicide attempt notifications from the regional epidemiological surveillance system were analyzed, corresponding to 1781 people, along with 217 reports from the Forensic Medical Service of people who died by suicide.</p><p><strong>Results: </strong>The overall suicide rate for the region during that period was 9.79 deaths per 100 000 inhabitants. The 2018 rates were standardized according to available information, with direct methods for the regional rate (9.55 per 100 000 inhabitants) and indirect methods for the communes. Rural communes presented higher rates than urban ones. Women showed a higher risk of attempts (OR 1.28; 95% CI 1.23 to 1.33) and a lower risk of suicide compared to men (0.086; 0.06 to 0.13). Young people had a higher risk of suicide attempts and a lower risk of suicide compared to older people. The increased suicide rates in older people (70 to 79 years) during 2020 are noteworthy. Basic education level is a risk variable for suicide (2.21; from 1.15 to 4.23), compared to having higher education. Previous suicide attempts and psychiatric pathology are risk factors.</p><p><strong>Conclusions: </strong>Suicide prevalence and related factors are similar to those reported in other studies and national reports, highlighting rurality and higher risk in older male adults. In contrast to suicides, attempts are more frequent in women and young people. A history of mental health problems, previous attempts, and family violence are risk factors for both outcomes. Knowing the patterns of suicidal behavior in the population is fundamental for its prevention.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140039778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Challenges in surveillance of all cancer cases: The Chilean National Cancer Registry. 监测所有癌症病例的挑战:智利国家癌症登记处。
IF 1.2
Medwave Pub Date : 2024-02-27 DOI: 10.5867/medwave.2024.01.2771
Carla Taramasco, Carla Rimassa, Johana Acevedo
{"title":"Challenges in surveillance of all cancer cases: The Chilean National Cancer Registry.","authors":"Carla Taramasco, Carla Rimassa, Johana Acevedo","doi":"10.5867/medwave.2024.01.2771","DOIUrl":"10.5867/medwave.2024.01.2771","url":null,"abstract":"<p><p>Cancer causes millions of deaths worldwide, making its registration essential. There are clinical, hospital, and population-based registries in place. The latter is the gold standard for information on cancer incidence and survival in a defined region. Chile has five population-based registries located in specific areas of the country. The Chilean National Cancer Registry emerged with the challenge of creating a tool encompassing all three types of registries to identify the number of cancer cases by type. Its design involved a series of actions to achieve consensus among various actors regarding information, validation, and events to be registered. Four stages were identified in the care and registration process: suspected diagnosis, morphological confirmation (biopsy), clinical resolution (oncology committee, including treatment recommendations), treatment, and oncological follow-up. The platform's development (from 2018 to 2021) involved gathering information and agreements on the requirements for co-designing the registry, including a successful pilot program with over 20 public and private healthcare facilities that recorded nearly 7500 cancer cases. The deployment and use of the National Cancer Registry at a national level depends on the healthcare authority. It is an information system that continuously and systematically collects, stores, processes, and analyzes data on all cancer cases and types occurring in the country. This work presents the design and development of the tool, the challenges addressed, as well as its strengths and weaknesses.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139983318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Urinary incontinence in health workers as a predisposing factor for presenteeism in Chile: A mixed-methods exploratory study. 在智利,医务工作者尿失禁是造成旷工的一个诱因:一项混合方法探索性研究。
IF 1.2
Medwave Pub Date : 2024-02-27 DOI: 10.5867/medwave.2024.01.2779
Julieta Aránguiz-Ramírez, Pedro Olivares-Tirado, Cecilia Baeza-Correa, Xavier Castells
{"title":"Urinary incontinence in health workers as a predisposing factor for presenteeism in Chile: A mixed-methods exploratory study.","authors":"Julieta Aránguiz-Ramírez, Pedro Olivares-Tirado, Cecilia Baeza-Correa, Xavier Castells","doi":"10.5867/medwave.2024.01.2779","DOIUrl":"10.5867/medwave.2024.01.2779","url":null,"abstract":"<p><strong>Introduction: </strong>Urinary incontinence negatively impacts the quality of life and can harm work activities, causing presenteeism in health professionals and decreasing the quality of care and patient safety. The objective of this study is to explore the self-perception of health workers who suffer from urinary incontinence as a predisposing factor for presenteeism.</p><p><strong>Methods: </strong>Mixed study of an exploratory-descriptive nature. The sample was selected in a non-probabilistic and intentional way by criterion and convenience with a size of 14 volunteers, considering the saturation of the information. Reliability criteria defined by Guba for the process and analysis of thematic data were considered.</p><p><strong>Results: </strong>The sample had a mean age of 38.9 + 7.1 years and a mean SPS-6 score of 15.8 + 3.5 points, showing alteration in the dimension of avoiding deconcentration. The narratives in the case study provide relevant information on how urinary incontinence affects the work performance of health workers through the interruption in their day, decreases the quality of clinical care, and increases their anxiety regarding their environment.</p><p><strong>Conclusions: </strong>Urinary incontinence and presenteeism are subjective, and multidimensional experiences affect work performance. Therefore, further studies are recommended to identify predictor variables and the economic losses associated with this condition to establish improvements in the work environment and the self-care of female employees seeking greater benefits and better levels of efficiency in the organization.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139983319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New candidate SNPs for genetic association with Alzheimer's disease: a linkage disequilibrium analysis for the FCGRIIB and PILRA genes. 与阿尔茨海默病遗传相关的新候选 SNPs:FCGRIIB 和 PILRA 基因的连锁不平衡分析。
IF 1.2
Medwave Pub Date : 2024-02-26 DOI: 10.5867/medwave.2024.01.2754
Alejndro Levi-Monsalve, Sergio Vladimir Flores, Germán Manriquez, Ángel Roco-Videla
{"title":"New candidate SNPs for genetic association with Alzheimer's disease: a linkage disequilibrium analysis for the FCGRIIB and PILRA genes.","authors":"Alejndro Levi-Monsalve, Sergio Vladimir Flores, Germán Manriquez, Ángel Roco-Videla","doi":"10.5867/medwave.2024.01.2754","DOIUrl":"10.5867/medwave.2024.01.2754","url":null,"abstract":"<p><strong>Background: </strong>Two new SNPs have been recently associated to Alzheimer's disease in African American populations: FCGRIIB rs1050501 C/T, and PILRA rs1859788 A/G. The risk of Alzheimer's disease in FCGRIIB C and PILRA A allele carriers is three times higher than in non-carriers. However, the association between these and other single nucleotide polymorphisms (SNPs) has not been assessed.</p><p><strong>Methods: </strong>Linkage disequilibrium analysis, with r= 0.8 as a threshold value, was used to impute new candidate SNPs, on genomic data from both genes in 26 populations worldwide (n= 2504) from the 1000Genomes database.</p><p><strong>Results: </strong>Four SNPs (rs13376485, rs3767640, rs3767639 and rs3767641) were linked to rs1050501 and one (rs2405442) to rs1859788 in the whole sample.</p><p><strong>Conclusions: </strong>Five novel SNPs could be associated with Alzheimer's disease susceptibility and play a causal role, even if none of them are exon variants since their potential roles in the regulation of gene expression.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139972641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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