RESUMO
Carotid Intima-media thickness (CIMT) and plaque are well established markers of subclinical atherosclerosis and are widely used for identifying subclinical atherosclerotic disease. We performed association analyses using Metabochip array to identify genetic variants that influence variation in CIMT and plaque, measured using B-mode ultrasonography, in rheumatoid arthritis (RA) patients. Data on genetic associations of common variants associated with both CIMT and plaque in RA subjects involving Mexican Americans (MA) and European Americans (EA) populations are presented in this article. Strong associations were observed after adjusting for covariate effects including baseline clinical characteristics and statin use. Susceptibility loci and genes and/or nearest genes associated with CIMT in MAs and EAs with RA are presented. In addition, common susceptibility loci influencing CIMT and plaque in both MAs and EAs have been presented. Polygenic Risk Score (PRS) plots showing complementary evidence for the observed CIMT and plaque association signals are also shown in this article. For further interpretation and details, please see the research article titled "A Genetic Association Study of Carotid Intima-Media Thickness (CIMT) and Plaque in Mexican Americans and European Americans with Rheumatoid Arthritis" which is being published in Atherosclerosis (Arya et al., 2018) [1].(Arya et al., in press) Thus, common variants in several genes exhibited significant associations with CIMT and plaque in both MAs and EAs as presented in this article. These findings may help understand the genetic architecture of subclinical atherosclerosis in RA populations.
RESUMO
BACKGROUND AND AIMS: Little is known about specific genetic determinants of carotid-intima-media thickness (CIMT) and carotid plaque in subjects with rheumatoid arthritis (RA). We have used the Metabochip array to fine map and replicate loci that influence variation in these phenotypes in Mexican Americans (MAs) and European Americans (EAs). METHODS: CIMT and plaque were measured using ultrasound from 700 MA and 415 EA patients with RA and we conducted association analyses with the Metabochip single nucleotide polymorphism (SNP) data using PLINK. RESULTS: In MAs, 12 SNPs from 11 chromosomes and 6 SNPs from 6 chromosomes showed suggestive associations (p < 1 × 10-4) with CIMT and plaque, respectively. The strongest association was observed between CIMT and rs17526722 (SLC17A2 gene) (ß ± SE = -0.84 ± 0.18, p = 3.80 × 10-6). In EAs, 9 SNPs from 7 chromosomes and 7 SNPs from 7 chromosomes showed suggestive associations with CIMT and plaque, respectively. The top association for CIMT was observed with rs1867148 (PPCDC gene, ß ± SE = -0.28 ± 0.06, p = 5.11 × 10-6). We also observed strong association between plaque and two novel loci: rs496916 from COL4A1 gene (OR = 0.51, p = 3.15 × 10-6) in MAs and rs515291 from SLCA13 gene (OR = 0.50, p = 3.09 × 10-5) in EAs. CONCLUSIONS: We identified novel associations between CIMT and variants in SLC17A2 and PPCDC genes, and between plaque and variants from COL4A1 and SLCA13 that may pinpoint new candidate risk loci for subclinical atherosclerosis associated with RA.
Assuntos
Artrite Reumatoide/etnologia , Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/etnologia , Doenças das Artérias Carótidas/genética , Espessura Intima-Media Carotídea , Americanos Mexicanos/genética , Placa Aterosclerótica , Polimorfismo de Nucleotídeo Único , População Branca/genética , Idoso , Artrite Reumatoide/diagnóstico , Carboxiliases/genética , Doenças das Artérias Carótidas/diagnóstico por imagem , Feminino , Perfilação da Expressão Gênica/métodos , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas Facilitadoras de Transporte de Glucose/genética , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Sequência com Séries de Oligonucleotídeos , Fenótipo , Valor Preditivo dos Testes , Medição de Risco , Fatores de Risco , Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética , Texas/epidemiologiaRESUMO
Joint destruction in rheumatoid arthritis (RA) is heritable, but knowledge on specific genetic determinants of joint damage in RA is limited. We have used the Immunochip array to examine whether genetic variants influence variation in joint damage in a cohort of Mexican Americans (MA) and European Americans (EA) with RA. We studied 720 MA and 424 EA patients with RA. Joint damage was quantified using a radiograph of both hands and wrists, scored using Sharp's technique. We conducted association analyses with the transformed Sharp score and the Immunochip single nucleotide polymorphism (SNP) data using PLINK. In MAs, 15 SNPs from chromosomes 1, 5, 9, 17 and 22 associated with joint damage yielded strong p-values (p < 1 × 10(-4) ). The strongest association with joint damage was observed with rs7216796, an intronic SNP located in the MAP3K14 gene, on chromosome 17 (ß ± SE = -0.25 ± 0.05, p = 6.23 × 10(-6) ). In EAs, 28 SNPs from chromosomes 1, 4, 6, 9, and 21 showed associations with joint damage (p-value < 1 × 10(-4) ). The best association was observed on chromosome 9 with rs59902911 (ß ± SE = 0.86 ± 0.17, p = 1.01 × 10(-6) ), a synonymous SNP within the CARD9 gene. We also observed suggestive evidence for some loci influencing joint damage in MAs and EAs. We identified two novel independent loci (MAP3K14 and CARD9) strongly associated with joint damage in MAs and EAs and a few shared loci showing suggestive evidence for association.
Assuntos
Artrite Reumatoide/genética , Artrite Reumatoide/patologia , Proteínas Adaptadoras de Sinalização CARD/genética , Articulações/patologia , Proteínas Serina-Treonina Quinases/genética , Artrite Reumatoide/etnologia , Feminino , Estudos de Associação Genética/métodos , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Americanos Mexicanos/genética , Pessoa de Meia-Idade , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Estados Unidos , População Branca/genética , Quinase Induzida por NF-kappaBRESUMO
El conocimiento de la anatomía de la vía biliar y sus variantes para la realización de una cirugía segura, resulta fundamental. La extirpación de la vesícula requiere cuidadosa atención, conocer muy bien la anatomía de la región, teniendo en cuenta la posibilidad de variaciones anatómicas. La mala interpretación de la anatomía percibida más que una falta en la destreza técnica es la causa de la lesión de la vía biliar durante la colecistectomía. Diferenciar el límite y el contenido del trígono cistohepático. Diseñar las áreas de Visión Crítica y de Seguridad como medida de seguridad en el paciente quirúrgico. Revisión de 458 partes quirúrgicos de colecistectomías de enero/2010 a octubre/2012, en el Servicio de Cirugía General del Hospital Aeronáutico Central, y disección de 12 cadáveres adultos formolizados al 10% en la III Cátedra de Anatomía - Facultad de Medicina - Universidad de Buenos Aires. De 458 colecistectomías, se clasificaron los partes quirúrgicos, dividiéndose según menciona: triángulo de Calot en 247 (53,93%); triángulo hepatocístico en 59 (12,88%); área de visión crítica en 152 (33,18%); ninguno mencionó al triángulo de Budde o trígono cistohepático. Se disecaron 12 cadáveres adultos donde se identificó: arteria cística originándose de arteria hepática derecha en 9 (75%); originándose de arteria hepática izquierda en 2 (16,66%) y originándose de arteria hepática en 1 (8,34%). En 7 (58,35%) se la visualiza en trígono cistohepático. El conocimiento de la anatomía de la vía biliar y sus variantes para la realización de una cirugía segura, resulta fundamental. El triángulo descrito por Calot corresponde a la mitad inferior del triángulo descrito por Buddé. El sector lateral (Triangulo de Seguridad) es el verdadero área de visión critica a disecar por la menor probabilidad de lesionar estructuras nobles.
Knowing the anatomy of the bile duct and its anatomical variations becomes essential to safely perform any surgery. Gallbladder resection requires careful attention: knowing the region's anatomy by heart and taking into account the possibility of anatomical variations. Misunderstanding the anatomy is not only a failure in technical ability but also a cause of injury to the bile duct during a cholescystectomy. The objectives of this study were, to distinguish the boundaries and content of the trigonum cystohepaticum. Furthermore, to design the areas of Safety and Critical Vision as a safety measure for the patient undergoing surgery. Analysis of 458 surgical reports on cholecystectomies performed from January 2010 to October 2012 by the Hospital Aeronáutico's General Surgery Department, and dissection of 12 adult cadavers preserved in a 10% formalin solution at the IIIrd Chair of Anatomy, School of Medicine, University of Buenos Aires. From 458 cholecystectomies, surgical reports were classified as mentioning: Calot triangle, 247 (53.93%); cystohepatic triangle, 59 (12.88%); critical vision area, 152 (33.18%). None of them mentioned Buddé triangle or trigonum cystohepaticum. Twelve adult cadavers were dissected in which we identified the cystic artery: originating from right hepatic artery, 9 (75%); originating from left hepatic artery, 2 (16.66%); and originating from hepatic artery, 1 (8.34%). Trigonum cystohepaticum is observed in 7 cadavers (58.35%). Knowing the anatomy of the bile duct and its anatomical variations becomes essential to safely perform any surgery. The triangle described by Calot is the lower half of the triangle described by Buddé. The lateral portion (Safety Triangle) is the area of critical vision to be dissected due to the lower probability of injuring noble structures.
Assuntos
Humanos , Masculino , Feminino , Adulto , Colecistectomia , Ducto Cístico/anatomia & histologia , Variação Anatômica , Ducto Hepático Comum/anatomia & histologia , Fígado/anatomia & histologia , Erros Médicos/prevenção & controle , Vesícula Biliar/anatomia & histologia , Vesícula Biliar/cirurgiaRESUMO
El análisis de la situación de salud de la comunidad es una de las actividades que contribuye a la Educación Médica Superior, a la formación de los residentes de Medicina General Integral y forma parte de los contenidos del pregrado médico. Su importancia ha motivado a realizar esta revisión, que tiene como objetivos principales destacar la actividad como instrumento docente, describir sus diferentes partes, y promover su calidad. Se revisó su historia, su vinculación con los principios didácticos, sus características, se describió los pasos a seguir y se expuso una guía práctica que incluye los principales indicadores, la cual se debe trabajar con un enfoque histórico cultural. La guía brinda los elementos necesarios para planear una estrategia educativa basada en los principales problemas de salud, aplicable a los recursos humanos en formación, facilitando el desarrollo del perfeccionamiento médico y las actividades de posgrado
The analysis of the health situation is one of the activities contributing to higher medical education, to the formation of Family Medicine residents and is part of the medical undergraduate education contents. The importance of this analysis has prompted us to make a review aimed at underlining this activity as a teaching tool, describing its different parts and promoting its quality. The history, the linking of health situation analysis with didactic principles, its characteristics were all reviewed. Also the steps to be followed were described together with a practical guideline covering the main indications, which should be used with a historical and cultural approach. The practical guide provides the necessary elements to draw an educational strategy based on the main health problems and applicable to the formation of human resources, thus facilitating the medical improvement and the development of postgraduate activities.
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Medicina Comunitária , Atenção Primária à Saúde , Diagnóstico da Situação de SaúdeRESUMO
Se hace un estudio estadístico, y se toma como muestra representativa una revisión de 153 historias clínicas de pacientes egresados del Servicio de Medicina Interna con el diagnóstico definitivo de giardiasis. Se informa que el objetivo de este trabajo consiste en correlacionar las manifestaciones clinicoalergológicas en los diferentes órganos de choque. Se indica que la respuesta alergológica constituyó el más alto porcentaje de la casuística revisada
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Humanos , Masculino , Feminino , Giardíase/diagnóstico , Giardíase/imunologiaRESUMO
Se revisan 100 expedientes clínicos de pacientes con diagnóstico preciso de cirrosis hepática, ingresados durante los años 1982-1983 en el Servicio de Medicina del Hospital Clinicoquirúrgico "Freyre de Andrade"; se analizan diferentes variables así como sus principales manifestaciones clínicas. El predominio ostensible de la enfermedad en el grupo de pacientes mayores de 60 años, nos hace pensar en una relación directa con la asistencia médica al paciente gerontogeriátrico la que, como se sabe, ha mejorado en los últimos años y se está reflejando ya en algunos aspectos de la historia natural de las enfermedades crónicas no transmisibles
Assuntos
Adulto , Pessoa de Meia-Idade , Humanos , Masculino , Feminino , Cirrose HepáticaRESUMO
La asociación del carcinoma de estómago con el grupo sanguíneo A, así como la úlcera duodenal y el grupo O, ha hecho pensar a muchos investigadores en la posibilidad de otras asociaciones. Se realiza este estudio con el objetivo de conocer la distribución de los grupos sanguíneos de 68 pacientes epilépticos de nuestro centro y compararlos con la de la población cubana supuestamente sana. Se realizan las pruebas mediante la utilización de sueros anti A, anti B y anti RhO. Se analizan los resultados generales, asi como los del subgrupo de epilépticos con antecedentes familiares de esta afección. No se observó asociación significativa en ninguno de los casos