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1.
Eur Respir J ; 62(5)2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37945032

RESUMO

BACKGROUND: Observational studies suggest asthma is a risk factor for coronary heart disease (CHD) and sex modifies the risk, but they may suffer from methodological limitations. To overcome these, we applied a "triangulation approach", where different methodologies, with different potential biases, were leveraged to enhance confidence in findings. METHODS: First, we conducted an observational study using UK medical records to match asthma patients 1:1, by age, sex and general practitioner (GP) practice, to the general population. We measured the association between asthma and incident CHD (myocardial infarction: hospitalisation/death) by applying minimal sufficient adjustment: model 1, smoking, body mass index, oral corticosteroids, atopy and deprivation; model 2, additionally adjusting for healthcare behaviour (GP consultation frequency). Second, we conducted a Mendelian randomisation (MR) study using data from the UK Biobank, Trans-National Asthma Genetic Consortium (TAGC) and Coronary Artery Disease Genome-wide Replication and Meta-analysis consortium (CARDIoGRAM). Using 64 asthma single nucleotide polymorphisms, the effect of asthma on CHD was estimated with inverse variance-weighted meta-analysis and methods that adjust for pleiotropy. RESULTS: In our observational study (n=1 522 910), we found asthma was associated with 6% increased risk of CHD (model 1: HR 1.06, 95% CI 1.01-1.13); after accounting for healthcare behaviour, we found no association (model 2: HR 0.99, 95% CI 0.94-1.05). Asthma severity did not modify the association, but sex did (females: HR 1.11, 95% CI 1.01-1.21; males: HR 0.91, 95% CI 0.84-0.98). Our MR study (n=589 875) found no association between asthma and CHD (OR 1.01, 95% CI 0.98-1.04) and no modification by sex. CONCLUSIONS: Our findings suggest that asthma is not a risk factor for CHD. Previous studies may have suffered from detection bias or residual confounding.


Assuntos
Asma , Doença da Artéria Coronariana , Infarto do Miocárdio , Feminino , Humanos , Masculino , Análise de Variância , Asma/complicações , Asma/epidemiologia , Asma/genética , Estudo de Associação Genômica Ampla , Infarto do Miocárdio/epidemiologia , Polimorfismo de Nucleotídeo Único , Fatores de Risco , Análise da Randomização Mendeliana
2.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1535139

RESUMO

Introducción: La equinococosis esplénica es una enfermedad zoonótica adquirida de forma accidental por el humano como huésped intermediario. Reporte de caso: paciente mujer de 26 años de edad, con dolor abdominal localizado en hipocondrio izquierdo, moderada intensidad, calmaba con antiespasmódicos endovenosos; antecedente de dolor abdominal de larga data y procedente de región de Huancavelica, Perú hace 6 años. En examen clínico del abdomen: ruidos hidroaéreos; presentes, simétrico, blando, depresible, doloroso a la palpación en hipocondrio izquierdo, impresiona esplenomegalia, timpanismo conservado; en ecografía menciona quiste hidatídico a nivel del bazo Gharbi IV; en tomografía abdominopélvica con contraste muestra bazo con lesión quística heterogénea, de pared parcialmente calcificada y áreas de densidad grasa que se extiende hasta ligamento gastroesplénico, con diámetro de 73 mm x 54 mm; concluyendo equinococosis extrahepática (equinococosis esplénica), realizándose esplenectomía total. Conclusión: enfermedad rara, incluso en áreas endémicas, que plantea desafíos para su diagnóstico y tratamiento.


SUMMARY Introduction: Splenic echinococcosis is a zoonotic disease accidentally acquired by humans as an intermediate host. Case report: a 26-year-old female patient with abdominal pain located in the left hypochondrium, moderate intensity, calmed with intravenous antispasmodics; a history of long-standing abdominal pain and from the Huancavelica region, Peru, 6 years ago. On clinical examination of the abdomen: hydro-air sounds; present, symmetrical, soft, depressible, painful on palpation in the left hypochondrium, impression of splenomegaly, preserved tympany; the ultrasound mentions a hydatid cyst at the level of the spleen Gharbi IV; Contrast-enhanced abdominal and pelvic tomography shows a spleen with a heterogeneous cystic lesion, with a partially calcified wall and areas of fatty density that extend to the gastrosplenic ligament, with a diameter of 73 mm x 54 mm; concluding extrahepatic echinococcosis (splenic echinococcosis), performing total splenectomy. Conclusion: rare disease, even in endemic areas, which poses challenges for its diagnosis and treatment.

3.
Asian Pac J Cancer Prev ; 23(11): 3623-3628, 2022 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-36444573

RESUMO

OBJECTIVE: We estimated the mortality trends for prostate cancer in Peru and its geographical areas between 2003 and 2017. MATERIAL AND METHODS: We obtained recorded prostate cancer deaths from the Peruvian Ministry of Health Database between 2003 and 2017. Age-adjusted mortality rates per 100,000 men-year were computed with the direct method using the world standard SEGI population. We estimated the annual percent change (APC) using the Joinpoint regression program. RESULTS: A total of 38,617 prostate cancer deaths were reported between 2003 and 2017, with a mortality rate ranging from 18.21 to 19.94 deaths per 100,000 men-year. Since 2006, Peru has experienced a decrease of 2.2 deaths per year, whereas the mortality rate in the coastal region has declined by 2.9% per year.  The highlands and rainforest regions showed stable trends throughout the entire study period. According to provinces, only Moquegua had a significant decrease (APC: -6.0, 95%CI: -11.4, -0.2, p<0.05) from 2003 to 2017. CONCLUSIONS: Although mortality rates are decreasing, there is a high mortality burden by prostate cancer in Peru and by geographical regions, being mostly concentrated in the coastal region. The rainforest provinces deserve the most attention. Our findings suggest wide health care disparities among the different regions of Peru that need greater public health attention to reduce the burden of mortality by prostate cancer.


Assuntos
Próstata , Neoplasias da Próstata , Masculino , Humanos , Peru/epidemiologia , Neoplasias da Próstata/epidemiologia , Pelve , Bases de Dados Factuais
4.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1431306

RESUMO

Introducción: Los aneurismas intracerebrales son hallazgos incidentales en estudios de imágenes realizado por otros diagnósticos. Reporte de Caso: Paciente femenino de 35 años, que presentó sincope después de cefalea de gran intensidad sin ceder a tratamiento convencional de AINES; con antecedente de cefalea de larga data y tratamiento esporádico. Al examen: neurológico: despierta, asimetría facial, disartria, fuerza muscular disminuida en ambos miembros inferiores, no signos meníngeos; el informe tomográfico cerebral sin contraste indicó: lesiones cerebrales expansivas de etiología a determinar a nivel de ambos lados de diencéfalo: descartar glioma vs aneurismas; Angiotac cerebral con contraste, refleja aneurismas de carótida interna intracraneal bilateral y cerebral media (en espejo). Posteriormente la paciente fue evaluada por neurocirujano de turno, quien indica referir a centro de mayor complejidad, por no contar con instrumental necesario para intervención quirúrgica; paciente fallece camino a centro de referencia. Conclusiones: Al ser una patología poco frecuente, no es considerada como una primera opción de sospecha diagnostica tras un evento de cefalea.


Background: Intracerebral aneurysms are incidental findings in imaging studies performed for other diagnoses. Case Report: 35- year-old female patient, who presented syncope after severe headache without yielding to conventional treatment with NSAIDs; with a history of long-standing headache and sporadic treatment. On examination: neurological: awake, facial asymmetry, dysarthria, decreased muscle strength in both lower limbs, no meningeal signs; the brain tomographic report without contrast indicated: expansive brain lesions of etiology to be determined at both sides of the diencephalon: rule out glioma vs aneurysms; cerebral Angiotac with contrast, reflects bilateral intracranial internal carotid and middle cerebral (mirror) aneurysms. Subsequently the patient was evaluated by the neurosurgeon on duty, who indicated to refer to a center of higher complexity, for not having the necessary instruments for surgery; patient died on the way to the referral center. Conclusions: Being a rare pathology, it is not considered as a first option for diagnostic suspicion after a headache event.

5.
Lancet Reg Health Am ; 16: 100376, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36777153

RESUMO

Background: An up-to-date analysis of gastric cancer mortality among Hispanic/Latino populations is required for estimating disease burden and assessing the effectiveness of clinical and preventive strategies. Methods: We retrieved gastric cancer deaths between 1997 and 2017 (as available) from the Surveillance, Epidemiology, and End Results Program (United States Hispanics) and the World Health Organization databases (Puerto Rico, 16 Latin American and Caribbean countries). Joinpoint regression analysis was used to examine trends in age-standardized mortality rates (ASMR; per 100 000 person-years) and calculate average annual percent changes (AAPCs) by country (or territory), age group (25-49 and ≥50 years), and sex. Trends were compared to assess slope parallelism. Findings: In 2017, Chile (31·8), Colombia (24·3) and Costa Rica (24·3) had the highest ASMR of gastric cancer for men, while Guatemala (17·2), Peru (13·5), and Costa Rica (13·3) had the highest ASMR for women. Small-to-moderate mortality declines (AAPCs ranged -4 to -0.5%) were observed between 1997 and 2017. In almost all countries, trends decreased among individuals aged ≥50 years. However, age-specific trends were not parallel (p-values <0.05) in Brazil, Colombia, Mexico, the United States, and Venezuela for both men and women, and in five additional countries for only women; with a few countries showing stable or slightly increasing trends for individuals aged 25-49 years. Interpretation: Overall gastric cancer mortality rates in Hispanics/Latinos declined in the last two decades. However, there was a notable variation in trends by country, sex, and age group. Continued and targeted prevention efforts are needed to reduce the disease burden in these vulnerable populations. Funding: Universidad Cientifica del Sur, Peru, and National Cancer Institute, United States.

6.
Am J Cancer Res ; 11(9): 4127-4140, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34659880

RESUMO

Drug resistance is one of the main causes of chemotherapy failure. Although several factors are involved in cancer drug resistant, the exporter pumps overexpression that mediates the drugs flow to outside the cells and reduces both the drugs intracellular concentration and effectiveness, has been one of the most important challenges. Overexpression of ABCC3, a member of the ABCC subfamily, has been strongly associated to the resistance to multiple drugs. ABCC3 has been found highly expressed in different types of cancers and is associated with poor prognosis and resistance to treatments. In this review, we summarize the molecular mechanisms involved in cancer drug resistance and discuss the current knowledge about the structure, function and role of ABCC3 in drug resistance, as well as, the expression status of ABCC3 in different types of cancer. We also provide evidences that place ABCC3 as a potential therapeutic target for improving the cancer treatment by focusing on the need of developing more effective cancer therapies to target ABCC3 in translational researches.

7.
Gac Med Mex ; 157(M1): 1-11, 2021 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-34979533

RESUMO

Ovarian cancer is the third most frequent gynaecological malignancy worldwide and in Mexico, with a high mortality rate, due to that in many cases its diagnosis is made in advanced stages. Prognosis is important for determining the subtype and the degree of evolution. During lasts years, the management of ovarian cancer has undergone an important evolution with the incorporation of new therapeutic options, which in turn represent an increase in the survival of these patients. We present recommendations for the management of ovarian cancer developed by an expert panel Mexican based on available evidence so far and the characteristics of health care in the country.


El cáncer de ovario es la tercera neoplasia maligna ginecológica más frecuente globalmente y también en México, con una elevada tasa de mortalidad debido a que en muchos casos su diagnóstico se realiza en etapas avanzadas. Para establecer su pronóstico es importante la determinación del subtipo y del grado de evolución. En los últimos años, el manejo del cáncer de ovario ha sufrido una importante evolución con la incorporación de nuevas opciones terapéuticas, que a su vez representan un incremento en la supervivencia de estas pacientes. Se presentan las recomendaciones para el manejo del cáncer de ovario elaboradas por un panel de expertos mexicanos basadas en la evidencia disponible hasta el momento y en las características de la atención sanitaria del país.


Assuntos
Neoplasias Ovarianas , Carcinoma Epitelial do Ovário/tratamento farmacológico , Humanos , México/epidemiologia , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/epidemiologia
8.
Gac. méd. Méx ; 157(spe1): 1-11, feb. 2021.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1375488

RESUMO

Resumen El cáncer de ovario es la tercera neoplasia maligna ginecológica más frecuente globalmente y también en México, con una elevada tasa de mortalidad debido a que en muchos casos su diagnóstico se realiza en etapas avanzadas. Para establecer su pronóstico es importante la determinación del subtipo y del grado de evolución. En los últimos años, el manejo del cáncer de ovario ha sufrido una importante evolución con la incorporación de nuevas opciones terapéuticas, que a su vez representan un incremento en la supervivencia de estas pacientes. Se presentan las recomendaciones para el manejo del cáncer de ovario elaboradas por un panel de expertos mexicanos basadas en la evidencia disponible hasta el momento y en las características de la atención sanitaria del país.


Abstract Ovarian cancer is the third most frequent gynaecological malignancy worldwide and in Mexico, with a high mortality rate, due to that in many cases its diagnosis is made in advanced stages. Prognosis is important for determining the subtype and the degree of evolution. During lasts years, the management of ovarian cancer has undergone an important evolution with the incorporation of new therapeutic options, which in turn represent an increase in the survival of these patients. We present recommendations for the management of ovarian cancer developed by an expert panel Mexican based on available evidence so far and the characteristics of health care in the country.

9.
Rev. salud pública ; 22(2): e212, mar.-abr. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1139441

RESUMO

RESUMEN El 11 de marzo de 2020 la OMS declara el estado de pandemia por COVID-19. Para el 31 de julio de 2020, se han reportado 17 106 007 casos y 668 910 muertes a nivel global. La región de las Américas ha reportado 9 152 173 casos (53%) y 351 121 muertes (52,2%), por lo que resulta de interés el análisis de los datos en países de esta región. Argentina, Chile y Colombia, debido a sus características culturales, políticas y económicas, presentan similitudes que favorecen su estudio y comparación. Objetivo Realizar un análisis exploratorio de variables relacionadas con los sistemas de salud y datos epidemiológicos de COVID-19 en Argentina, Chile y Colombia. Metodología Estudio descriptivo de variables reportadas por los organismos oficiales de cada Estado. Resultados Se presentaron diferencias importantes en los casos activos, el número de pruebas realizadas y la mortalidad entre los tres países. La Ciudad Autónoma de Buenos Aires presenta la mayor tasa de casos activos a julio de 2020. De estos tres países, Colombia presenta las mayores cifras de fallecimientos confirmados por COVID-19 con cierre a 31 de julio de 2020. Se sugiere la unificación de un sistema de información para América Latina que permita hacer un monitoreo integral de variables de interés, que favorezca la calidad de los datos y que unifique el lenguaje técnico.(AU)


ABSTRACT On March 11, 2020 the WHO declared the state of pandemic by COVID-19. As of July 29, 2020, 17 106 007 cases and 668 910 deaths have been reported globally. The region of the Americas has reported 9 152 173 cases (53%) and 351 121 deaths (52,2%), so the aggregate analysis of the data in countries in this region is of interest. Argentina, Chile and Colombia, due to their demographic and economic characteristics, are countries that can be studied. Objetive Analyze variables related to health systems and epidemiological data of SARS-CoV-2 virus disease in Argentina, Chile and Colombia. Methods A descriptive study of variables reported by the official organisms of each state was used. Results There is an important difference in active cases and mortality among the three countries; the Autonomous City of Buenos Aires has the highest number of active cases as of July 2020. Colombia has the highest numbers of deaths confirmed by COVID-19 in the months of February to July 2020. We suggest the unification of an information system for Latin America that allows a comprehensive monitoring of variables, improves the qua-lity of data and unifies the technical language.(AU)


Assuntos
Humanos , Infecções por Coronavirus/epidemiologia , Betacoronavirus , Análise por Conglomerados , Morbidade , América Latina/epidemiologia
10.
Medisur ; 17(5): 706-718, sept.-oct. 2019. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1091226

RESUMO

RESUMEN Las anemias hemolíticas son un grupo de trastornos en los que se produce una destrucción precoz del hematíe. Las manifestaciones clínicas derivadas de esta hemolisis es lo que se conoce como síndrome hemolítico, en el que los resultados de la lámina periférica varían según la causa de la hemólisis, por lo que este examen constituye una valiosa orientación. Esta revisión bibliográfica aborda los resultados del estudio del frotis de sangre periférica en diferentes causas de anemia hemolítica y se describen las alteraciones morfológicas y semicuantitativas de las células de la sangre periférica con el objetivo de que constituya una guía que sugiera un diagnóstico precoz por la gravedad de algunas afecciones del síndrome hemolítico.


ABSTRACT Hemolytic anemia is a group of disorders in which there is an early destruction of the red blood cell. The group of clinical manifestations derived from this hemolysis is known as hemolytic syndrome, in which the results of the peripheral lamina vary according to the cause of the hemolysis, reason why this examination constitutes a valuable orientation. This bibliographical review addresses the results of the peripheral blood smear study in different causes of hemolytic anemia and describes the morphological and semi-quantitative alterations of peripheral blood cells with the aim of providing a guideline that suggests an early diagnosis due to the seriousness of some conditions of hemolytic syndrome.

11.
Medisur ; 17(4): 525-539, jul.-ago. 2019. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1091204

RESUMO

RESUMEN La anemia es una condición común en el anciano y significa un factor de riesgo por el incremento de la morbimortalidad en esta etapa de la vida, la cual reduce no solo la capacidad funcional y la movilidad, sino también la calidad de vida. Constituye un especial problema de salud en el adulto mayor a causa de su gran prevalencia. Su predominio aumenta con la edad, pero no debe ser considerada como consecuencia inevitable del envejecimiento, sino que es resultado de una elevada frecuencia de enfermedades anemizantes y varias de ellas se observan con mucha reiteración en esta etapa de la vida. Se realiza una revisión bibliográfica de la anemia en el adulto mayor para reunir en un solo contexto los diferentes estudios realizados respecto a este tema donde se describen las diversas causas del síndrome anémico en este grupo etáreo, se realiza un breve resumen de su fisiopatología, efectos negativos y diferentes complicaciones.


ABSTRACT Anemia is a common condition in the elderly and is a risk factor due to the increase in morbidity and mortality at this stage of life, which reduces not only the functional capacity and mobility, but also the quality of life. It constitutes a special health problem in the elderly due to its high prevalence. Its predominance increases with age, but it should not be considered as an unavoidable consequence of aging, but as the result of a high frequency of anemic diseases that are observed with repeatedly at this stage of life. The aim of this bibliographical review is to compile the different studies conducted on this topic and to describe the various causes of anemic syndrome in this age group. Its pathophysiology, negative effects and different complications are summarized.

12.
J Endocr Soc ; 3(7): 1417-1422, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31286108

RESUMO

Postprandial hyperinsulinemic hypoglycemia is an uncommon yet well-established complication of Roux-en-Y gastric bypass (RYGB) that can result in serious morbidity and adversely affect quality of life. It is often unrecognized and may be difficult to diagnose. Management is challenging. As the number of bariatric procedures increases in parallel with the obesity epidemic, clinicians will be tasked to offer effective medical therapies for this complication. Two patients presented several years after RYGB with severe postprandial hypoglycemia. In one of the patients, we were able to document simultaneous postprandial hypoglycemia and hyperinsulinemia. Conventional treatment approaches, including medical nutrition therapy, acarbose, diazoxide, and octreotide, were either ineffective or limited by poor tolerance. Nifedipine and verapamil were used adjunctively with dietary modification, resulting in resolution of symptomatic hypoglycemic episodes. These agents are therapeutic options that can be used for some patients refractory to more traditional treatments. They should be tried before surgical procedures are considered for affected patients. These two cases demonstrate that calcium channel blockers may be efficacious and appropriate for select patients refractory to dietary interventions alone.

13.
Rev. panam. salud pública ; 42: e78, 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-961747

RESUMO

RESUMEN Objetivo. Caracterizar los servicios de genética médica de Venezuela con el fin de conocer la distribución de sus recursos, servicios, tecnologías y formación profesional. Métodos. Se realizó una investigación descriptiva, de tipo documental, entre febrero y noviembre de 2016 de los servicios de genética, mediante la revisión de fuentes documentales primarias y el uso de una ficha de recolección de datos en las instituciones de investigación para información referente a disponibilidad de recursos humanos, servicios de atención y diagnóstico, así como formación profesional, y la base de datos de la Sociedad Venezolana de Genética Humana, que permitió identificar los recursos humanos en centros de genética. El criterio de inclusión fue instituciones con recursos humanos formados en genética. Resultados. Los criterios fueron cumplidos por cuatro instituciones de investigación, siete universidades y cuatro hospitales, todos del sector público. En estas instituciones trabajan 124 profesionales, 56 son médicos y 68 se desempeñan en el área de laboratorio. Sesenta y dos por ciento de los profesionales pertenecen a las instituciones de investigación; estas cuentan con servicios de atención clínico, diagnóstico molecular, bioquímico y, con menos frecuencia, los análisis citogenéticos, prenatales y forenses. Cinco regiones del país tienen entre dos y cuatro médicos genetistas por millón de habitantes. El 96% de los profesionales de laboratorio se localizan en dos regiones (Capital y Zuliana), cinco regiones carecen de ellos. Las instituciones de investigación han formado en genética el 40% de los recursos humanos actuales del país. Conclusiones. Los servicios de genética presentan gran variabilidad de opciones diagnósticas, un acceso limitado y grandes aportes en formación profesional; se requieren políticas coordinadas que los integre y disminuya las brechas.


ABSTRACT Objective. To characterize medical genetics services in Venezuela and describe the distribution of their resources, services, technologies, and professional training. Methods. A descriptive, documentary study of genetic services was conducted between February and November 2016, involving a review of primary documentary sources and the use of a data collection form in research institutions to obtain information on the availability of human resources, clinical care, and diagnostic services, as well as professional training. Furthermore, the Venezuelan Society of Human Genetics database was used to identify the human resources available in genetics centers. The criterion for inclusion was being an institution with staff trained in genetics. Results. The inclusion criterion was met by four research institutions, seven universities, and four hospitals, all in the public sector. A total of 124 professionals work in these institutions; 56 of them are physicians and 68 are laboratory staff. Of these professionals, 62% are affiliated with research institutions, which offer patient care services, molecular and biochemical diagnostic services, and, more rarely, cytogenetic, prenatal, and forensic testing. Five regions of the country have between two and four physicians specializing in genetics per million inhabitants. Of the laboratory professionals, 96% are located in two regions (Capital and Zuliana); five regions have none. Research institutions have provided training in genetics to 40% of the country's current human resources. Conclusions. Genetics services show great variability in terms of diagnostic options. They train large numbers of professionals, but access is limited. There is a need for coordinated policies to integrate these services and reduce existing gaps.


RESUMO Objetivo. Caracterizar os serviços de genética médica da Venezuela com a finalidade de conhecer a distribuição dos recursos, prestação de serviços, tecnologias usadas e formação profissional nesta área. Métodos. Uma pesquisa descritiva documental dos serviços de genética médica foi realizada de fevereiro a novembro de 2016. Foi feita uma revisão das fontes documentais primárias nas instituições de pesquisa com o preenchimento de fichas de coleta de dados com informação sobre a disponibilidade de recursos humanos, prestação de serviços de atendimento e diagnóstico e formação profissional. Foi feita também uma revisão do banco de dados da Sociedade Venezuelana de Genética Humana para identificar os recursos humanos nos centros de genética. O critério de inclusão do estudo foi ser uma instituição com recursos humanos formados em genética. Resultados. Os critérios do estudo foram satisfeitos por 4 instituições de pesquisa, 7 universidades e 4 hospitais, todos da rede pública. Foram identificados 124 profissionais trabalhando nestas instituições: 56 médicos e 68 funcionários da área de laboratório. Sessenta e dois por cento dos profissionais pertencem a instituições de pesquisa que prestam serviços de atendimento clínico e diagnóstico molecular e bioquímico e, menos frequentemente, realizam análises citogenéticas, pré-natais e forenses. Cinco regiões do país têm entre 2 e 4 médicos geneticistas por milhão de habitantes. Além disso, 96% dos profissionais de laboratório estão distribuídos em 2 regiões (capital e Zuliana), sendo que não há nenhum profissional em 5 regiões. As instituições de pesquisa formam atualmente 40% dos recursos humanos em genética do país. Conclusões. Os serviços de genética médica são caracterizados por grande variabilidade nas opções diagnósticas, acesso limitado e grande contribuição para a formação profissional. Fazem-se necessárias políticas coordenadas para integrar e reduzir as lacunas.


Assuntos
Humanos , Serviços em Genética , Recursos Humanos , Genética Médica/organização & administração , Venezuela
14.
Infectio ; 21(4): 255-266, oct.-dic. 2017. tab, graf
Artigo em Inglês | LILACS, COLNAL | ID: biblio-892740

RESUMO

Congenital transmission of Chagas disease has not been extensively studied in Colombia, and there are no standardized processes in the health system regarding the specific diagnosis, treatment and follow-up of this disease. To generate recommendations on congenital Chagas disease and Chagas in women of childbearing age in Colombia, a consensus of experts was developed. An extensive literature search through the Medline database was carried out using the MeSH terms: «Chagas disease/congenital¼, «prevention and control¼, «diagnosis¼, «therapeutics¼ and «pregnancy¼. Appropriate abstracts were selected and the full texts were analyzed. The relevant information was synthesized, classified, and organized into tables and figures and was presented to a panel of experts, which was composed of 30 professionals from various fields. Based on the Delphi methodology, three rounds of consultation were conducted. The first and second rounds were based on electronic questionnaires that measured the level of consensus of each question among the participants. The third round was based on a face-to-face discussion focusing on those questions without consensus in the previous consultations. The evidence was adapted to national circumstances on a case-by-case basis, and the content the final document was approved. These recommendations are proposed for use in routine medical practice by health professionals in Colombia.


La transmisión congénita de la enfermedad de Chagas ha sido poco estudiada en Colombia y existen pocos procedimientos rutinarios en el sistema de salud para el manejo de esta enfermedad. Por ello se desarrolló un consenso de expertos dirigido a generar recomendaciones de diagnóstico y tratamiento de Chagas con- génito y orientación a mujeres en edad fértil. Con ese propósito se realizó una búsqueda extensiva de la literatura, empleando una combinación de términos Mes (Chagas, Chagas congénito, prevención, control, diagnóstico, tratamiento y embarazo) para reflejar el estado del arte en cada tema de interés. Después de ello, se leyeron los resúmenes y aquellos seleccionados para análisis del texto completo. La literatura relevante se sintetizo, clasifico y organizo en tablas y se presentó al panel de expertos, el cual estaba constituido por 30 profesionales en diferentes áreas. Mediante la metodología Delphi se realizaron 2 rondas de cuestionarios virtuales y una reunión presencial en los cuales se evaluaron los niveles de acuerdo entre los participantes. Los puntos con falta de consenso durante las 2 rondas virtuales se expusieron durante las mesas de discusión en la ronda presencial. La evidencia utilizada se adaptó a las particularidades nacionales según el caso y se aprobó el contenido del documento final. Se propone que estas recomendaciones sean usadas por profesionales de la salud en Colombia.


Assuntos
Humanos , Feminino , Adolescente , Adulto , Doença de Chagas/congênito , Consenso , Orientação/fisiologia , Doença de Chagas/tratamento farmacológico , Colômbia
15.
Ann Hepatol ; 15(6): 902-906, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27740524

RESUMO

 Background & Aims. It is unclear whether portal vein thrombosis (PVT) unrelated to malignancy is associated with reduced survival or it is an epiphenomenon of advanced cirrhosis. The objective of this study was to assess clinical outcome in cirrhotic patients with PVT not associated with malignancy and determine its prevalence. MATERIAL AND METHODS: Retrospective search in one center from June 2011 to December 2014. RESULTS: 169 patients, 55 women and 114 men, median age 54 (19-90) years. Thirteen had PVT (7.6%). None of the patients received anticoagulant treatment. The PVT group was younger (49 [25-62] vs. 55 [19-90] years p = 0.025). Child A patients were more frequent in PVT and Child C in Non-PVT. Median Model for End Stage Liver Disease (MELD) score was lower in PVT (12 [8-21] vs. 19 [7-51] p ≤ 0.001) p ≤ 0.001). There was no difference between upper gastrointestinal bleeding and spontaneous bacterial peritonitis in the groups. Encephalopathy grade 3-4 (4 [30.8%] vs. 73 [46.8%] p = 0,007) and large volume ascites (5 [38.5%] vs. 89 [57.1%] p= 0,012) was more common in non-PVT. Survival was better for PVT (16.5 ± 27.9 vs. 4.13 ± 12.2 months p = 0.005). CONCLUSIONS: We found that PVT itself does not lead to a worse prognosis. The most reliable predictor for clinical outcome remains the MELD score. The presence of PVT could be just an epiphenomenon and not a marker of advanced cirrhosis.


Assuntos
Cirrose Hepática/epidemiologia , Veia Porta , Trombose Venosa/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiografia por Tomografia Computadorizada , Progressão da Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Cirrose Hepática/diagnóstico , Cirrose Hepática/mortalidade , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Flebografia/métodos , Veia Porta/diagnóstico por imagem , Valor Preditivo dos Testes , Prevalência , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Ultrassonografia Doppler , Trombose Venosa/diagnóstico por imagem , Trombose Venosa/mortalidade , Adulto Jovem
16.
Psychotherapy (Chic) ; 53(3): 308-13, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27631860

RESUMO

Group psychotherapy provides unique opportunities for clinical errors in the selection of patients and composition of therapy groups. This article introduces some of the difficulties and complexities that can be associated with group composition and patient selection errors. Clinical vignettes from psychodynamic/interpersonal psychotherapy groups are used to illustrate three variations of group composition and selection errors. The first vignette depicts an error in selecting a disruptive patient into a fledgling group. The second vignette portrays an unsuccessful integration of a withdrawn, inhibited patient into an active, exploratory group. The third scenario illustrates challenges associated with poor quality of object relations in homogeneous group composition. Although research on group therapy composition and patient selection is limited, relevant empirical literature is integrated in our discussion of clinical implications and recommendations. (PsycINFO Database Record


Assuntos
Caráter , Erros Médicos , Seleção de Pacientes , Adulto , Feminino , Processos Grupais , Estrutura de Grupo , Humanos , Masculino , Pessoa de Meia-Idade , Psicoterapia de Grupo
17.
Cancer ; 122(20): 3127-3135, 2016 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-27500561

RESUMO

BACKGROUND: People aged 26 to 34 years represent the greatest proportion of the uninsured, and they have the highest incidence of testicular cancers. The aim of this study was to investigate the association between insurance status and cancer outcomes in men diagnosed with germ cell tumors. METHODS: The Surveillance, Epidemiology, and End Results database was used to identify 10,211 men diagnosed with germ cell gonadal neoplasms from 2007 to 2011. Associations between insurance status and characteristics at diagnosis and receipt of treatment were examined with log-binomial regression. The association between insurance status and mortality was assessed with Cox proportional hazards regression. RESULTS: Uninsured patients had an increased risk of metastatic disease at diagnosis (relative risk [RR], 1.26; 95% confidence interval [CI], 1.15-1.38) in comparison with insured patients, as did Medicaid patients (RR, 1.62; 95% CI, 1.51-1.74). Among men with metastatic disease, uninsured and Medicaid patients were more likely to be diagnosed with intermediate/poor-risk disease (RR for uninsured patients, 1.22; 95% CI, 1.04-1.44; RR for Medicaid patients, 1.39; 95% CI, 1.23-1.57) and were less likely to undergo lymph node dissection (RR for uninsured patients, 0.74; 95% CI, 0.57-0.94; RR for Medicaid patients, 0.76; 95% CI, 0.63-0.92) in comparison with insured patients. Men without insurance were more likely to die of their disease (hazard ratio [HR], 1.88; 95% CI, 1.29-2.75) in comparison with insured men, as were those with Medicaid (HR, 1.51; 95% CI, 1.08-2.10). CONCLUSIONS: Patients without insurance and patients with Medicaid have an increased risk of presenting with advanced disease and dying of the disease in comparison with those who have insurance. Future studies should examine whether implementation of the Patient Protection and Affordable Care Act reduces these disparities. Cancer 2016;122:3127-35. © 2016 American Cancer Society.


Assuntos
Cobertura do Seguro , Medicaid , Pessoas sem Cobertura de Seguro de Saúde/estatística & dados numéricos , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias Embrionárias de Células Germinativas/patologia , Patient Protection and Affordable Care Act , Índice de Gravidade de Doença , Adulto , Idoso , Estudos de Coortes , Bases de Dados Factuais , Seguimentos , Humanos , Incidência , Seguro Saúde , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Neoplasias Embrionárias de Células Germinativas/terapia , Prognóstico , Programa de SEER , Taxa de Sobrevida , Estados Unidos
18.
J Dig Dis ; 17(2): 128-31, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26630456

RESUMO

There are many autoimmune diseases associated with primary biliary cholangitis (PBC), known as primary biliary cirrhosis; however, the association between PBC and warm autoimmune hemolytic anemia (wAIHA) has rarely been reported. It is documented that hemolysis is present in over 50% of the patients with chronic liver disease, regardless of the etiologies. Due to the clear and frequent relationship between PBC and many autoimmune diseases, it is reasonable to suppose that wAIHA may be another autoimmune disorder seen in association with PBC. Here we reported a 53-year-old female patient diagnosed with wAIHA associated with PBC.


Assuntos
Anemia Hemolítica Autoimune/complicações , Cirrose Hepática Biliar/complicações , Anemia Hemolítica Autoimune/tratamento farmacológico , Biópsia , Quimioterapia Combinada , Feminino , Glucocorticoides/uso terapêutico , Humanos , Fígado/patologia , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/tratamento farmacológico , Cirrose Hepática Biliar/patologia , Pessoa de Meia-Idade , Prednisolona/uso terapêutico , Ácido Ursodesoxicólico/uso terapêutico
19.
Arch. venez. pueric. pediatr ; 78(3): 96-98, set. 2015. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-780124

RESUMO

En los síndromes Down (SD) y Klinefelter (SK) independientes entre si, ambas aneuploidías cromosómicas son causadas por exceso. La ocurrencia de estas dos alteraciones en un individuo es un fenómeno relativamente raro. En casos de doble aneuploidiìa donde están involucrados autosomas y cromosomas sexuales, predominan las manifestaciones clínicas relacionadas con los autosomas y se solapan las de cromosomas sexuales. Caso clínico: se trata de un paciente de dos anÞos de edad, con signos sugerentes de SD, producto del tercer embarazo de una madre de 32 anÞos. Examen físico: braquicefalia, perfil plano, hipertelorismo, desviación de las hendiduras palpebrales, orejas de baja implantación, prominencia de la sutura metópica, paladar alto y estrecho, cuello corto, diaìstasis de músculos rectos anteriores, hernia umbilical, braquidactilia, línea de Sydney en mano derecha, micro pene, hipotonía moderada. El estudio citogenético evidencio una formula cromosómica 48,XXY,+21,der(X) para el caso y 46,XX,del(Xp)(p11.3-pter) en la madre. Con esto se logró precisar una correlación genotipo-fenotipo que nos confirma el diagnóstico de síndrome Down-Klinefelter con deleción p11.3-pter de cromosoma X heredado de la madre. Las manifestaciones fenotípicas del SK solapadas por una aneuploidiìa autosómica deben evaluarse detenidamente en la pubertad.


In Down Syndrome (DS) and Klinefelter Syndrome (KS) independent of one another, both chromosome aneuploidies are caused by excess. The occurrence of these alterations in one individual is a relatively rare phenomenon. In cases of double aneuploidy in which autosomes and sex chromosomes are involved, the predominant clinical manifestations are related to autosomes and the alterations due to sex chromosomes overlap. Clinical case: The patient is a two year old boy, with signs suggestive of DS, product of the third pregnancy of a mother of 32 years of age. Physical exam: brachycephaly, flat facial profile, hypertelorism, upslanting palpebral fissures, low-set ears, prominent metopic suture, high and narrow palate, short neck, diastasis recti, umbilical hernia, brachydactyly, Sydney line in the right hand, micro pennies, moderate hypotonia. The cytogenetic study revealed a chromosomal formula 48,XXY,+21,der(X) in the case and 46,XX,del(Xp)(pter-p11.3) in the mother, which specifies a genotype-phenotype correlation and confirms the diagnosis of Down- Klinefelter Syndrome with deletion p11.3-pter of X chromosome inherited from the mother. The phenotypic manifestations of KS overlapped by an autosomal aneuploidy should be carefully assessed at puberty.

20.
Ann Hepatol ; 14(3): 416-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25864224

RESUMO

Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications.


Assuntos
Amiloidose Familiar/etiologia , Autoimunidade , Hepatite Autoimune/complicações , Cirrose Hepática Biliar/complicações , Dermatopatias Genéticas/etiologia , Adulto , Amiloidose Familiar/diagnóstico , Amiloidose Familiar/imunologia , Biópsia , Diagnóstico Diferencial , Hepatite Autoimune/diagnóstico , Hepatite Autoimune/imunologia , Humanos , Fígado/patologia , Cirrose Hepática Biliar/diagnóstico , Cirrose Hepática Biliar/imunologia , Masculino , Pele/patologia , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/imunologia , Síndrome
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