Manejo del aneurisma de aorta abdominal sintomático no roto: últimos adelanto / Management of symptomatic unruptured abdominal aortic aneurysms: state of the art

RESUMEN El aneurisma de aorta abdominal (AAA) sintomático no roto es una patología que involucra a aquellos pacientes con AAA intacto, pero que presentan dolor abdominal y/o lumbar atribuido al aneurisma. Esta forma de presentación clínica es po tencialmente mortal dado que su etiopatogenia comprende cambios agudos en la pared aórtica, incluyendo inflamación, lo que incrementa la probabilidad de ruptura inminente. Está claro que estos pacientes deben ser derivados a reparación del AAA. Sin embargo, el momento de la intervención es controvertido. Por lo tanto, el objetivo del presente trabajo fue revisar la información actualizada sobre el abordaje diagnóstico-terapéutico del AAA sintomático no roto.

ABSTRACT Symptomatic unruptured abdominal aortic aneurysm (AAA) refers to a group of patients with intact AAA but who present abdominal and/or lumbar pain attributed to the aneurysm. This form of clinical presentation is potentially fatal since its etiopathogenesis, involving acute changes in the aortic wall, including inflammation, increases the probability of impending rupture. It is clear that these patients should be referred to AAA repair. However, the timing of the intervention is contro versial. Therefore, the aim of the present work was to review updated information on the diagnostic-therapeutic approach of symptomatic unruptured AAA.

The Bidimensional Model of Mental Health: an empirical approach in a general population sample / El Modelo Bidimensional de Salud Mental: una aproximación empírica en una muestra de la población general

Background: Comprehensive mental health research is proposed as an important resource for individual well-being, as opposed to indicators of psychopathology. Objectives: We present an approach to the Bidimensional Model of Mental Health (BDSM) that considers psychological distress and subjective well-being as two separate but related dimensions. Methods: In a sample of 290 adults from the community, with 55.2% women and a mean age of 28.6 (Dt = 12.0). Results: The continuous results confirm a two-dimensional structure of psychopathology (PS) and subjective well-being (BS). The proposed model proposes classification into four groups according to the above result, namely, complete mental health (high BS, low PS, 62.2%), vulnerable (low BS, low PS, 11.4%), symptomatic but content (high BS, high PS, 11.4%) and troubled (low BS, high PS, 15%). The categorical results indicate that the problem and symptomatic groups obtained higher mean scores in trait worry, experiential and behavioral avoidance, and in turn, the symptomatic group scored higher in resistance to distress and in the more adaptive cognitive emotional regulation strategies; on the contrary, the vulnerable group obtained lower means in the latter. The results of the vulnerable and symptomatic groups confirm the coexistence of well-being and psychopathology. Conclusions: The promotion of subjective well-being is proposed when considering health in a more comprehensive way, because of its potential to generate profound and lasting benefits for individuals and the community in general.

Introducción: La regulación de las emociones implica modular las experiencias de las emociones para facilitar el logro de los objetivos, por el contrario, las dificultades en las mismas son un patrón de experiencias emocionales que interfieren con el comportamiento dirigido a un objetivo. Objetivos: Presentamos una aproximación al Modelo Bidimensional de Salud Mental (BDSM) que consideran la angustia psicológica y el bienestar subjetivo como dos dimensiones separadas pero relacionadas. Método: En una muestra es de 290 personas adultas de la comunidad, con un 55,2% mujeres y una media de edad de 28,6 (Dt = 12.0). Resultados: Los resultados confirman una estructura bidimensional de psicopatología (PS) y bienestar subjetivo (BS), negativamente relacionados. El modelo propone la clasificación en cuatro grupos atendiendo al resultado anterior, a saber, salud mental completa (BS alto, PS baja, 62,2%), vulnerable (BS bajo, PS baja, 11,4%), sintomático pero contento (BS alto, PS alta, 11,4%) y con problemas (BS bajo, PS alta, 15%). Los resultados señalan que los grupos con problemas y sintomáticos obtienen puntuaciones medias más elevadas en la preocupación rasgo, la evitación experiencial y conductual, y a su vez, el grupo sintomático puntúa más elevado en resistencia al malestar y en las estrategias de regulación emocional cognitivas más adaptativas. El grupo vulnerable obtiene medias más bajas en estas últimas. Los resultados de los grupos vulnerables y sintomáticos confirman la coexistencia del bienestar y la psicopatología. Conclusiones: Los resultados se discuten atendiendo a los estudios revisados, y dada la relevancia de las estrategias de regulación emocional en la satisfacción con la vida y la resistencia al malestar, se proponen tratamientos transdiagnósticos de la regulación de las emociones.

El Modelo Bidimensional de Salud Mental: una aproximación empírica en una muestra de la población general

Introducción: La regulación de las emociones implica modular las experiencias de las emociones para facilitar el logro de los objetivos, por el contrario, las dificultades en las mismas son un patrón de experiencias emocionales que interfieren con el comportamiento dirigido a un objetivo. Objetivos: Presentamos una aproximación al Modelo Bidimensional de Salud Mental (BDSM) que consideran la angustia psicológica y el bienestar subjetivo como dos dimensiones separadas pero relacionadas. Método: En una muestra es de 290 personas adultas de la comunidad, con un 55,2% mujeres y una media de edad de 28,6 (Dt = 12.0). Resultados: Los resultados confirman una estructura bidimensional de psicopatología (PS) y bienestar subjetivo (BS), negativamente relacionados. El modelo propone la clasificación en cuatro grupos atendiendo al resultado anterior, a saber, salud mental completa (BS alto, PS baja, 62,2%), vulnerable (BS bajo, PS baja, 11,4%), sintomático pero contento (BS alto, PS alta, 11,4%) y con problemas (BS bajo, PS alta, 15%). Los resultados señalan que los grupos con problemas y sintomáticos obtienen puntuaciones medias más elevadas en la preocupación rasgo, la evitación experiencial y conductual, y a su vez, el grupo sintomático puntúa más elevado en resistencia al malestar y en las estrategias de regulación emocional cognitivas más adaptativas. El grupo vulnerable obtiene medias más bajas en estas últimas. Los resultados de los grupos vulnerables y sintomáticos confirman la coexistencia del bienestar y la psicopatología. Conclusiones: Los resultados se discuten atendiendo a los estudios revisados, y dada la relevancia de las estrategias de regulación emocional en la satisfacción con la vida y la resistencia al malestar, se proponen tratamientos transdiagnósticos de la regulación de las emociones.

Background: Comprehensive mental health research is proposed as an important resource for individual well-being, as opposed to indicators of psychopathology. Objectives: We present an approach to the Bidimensional Model of Mental Health (BDSM) that considers psychological distress and subjective well-being as two separate but related dimensions. Methods: In a sample of 290 adults from the community, with 55.2% women and a mean age of 28.6 (Dt = 12.0). Results: The continuous results confirm a two-dimensional structure of psychopathology (PS) and subjective well-being (BS). The proposed model proposes classification into four groups according to the above result, namely, complete mental health (high BS, low PS, 62.2%), vulnerable (low BS, low PS, 11.4%), symptomatic but content (high BS, high PS, 11.4%) and troubled (low BS, high PS, 15%). The categorical results indicate that the problem and symptomatic groups obtained higher mean scores in trait worry, experiential and behavioral avoidance, and in turn, the symptomatic group scored higher in resistance to distress and in the more adaptive cognitive emotional regulation strategies; on the contrary, the vulnerable group obtained lower means in the latter. The results of the vulnerable and symptomatic groups confirm the coexistence of well-being and psychopathology. Conclusions: The promotion of subjective well-being is proposed when considering health in a more comprehensive way, because of its potential to generate profound and lasting benefits for individuals and the community in general.

Diagnosis of blackleg from cattle tissue impregnated in common filter paper / Diagnóstico de carbúnculo sintomático a partir de papel filtro comum impregnado com tecido bovino

ABSTRACT: Blackleg, an acute myonecrosis caused by Clostridium chauvoei, is usually underdiagnosed since the rapid transport of adequate samples for laboratory testing is difficult. This study tested a direct polymerase chain reaction (PCR) technique using common filter paper impregnated with cattle tissue samples obtained from animals suspected with blackleg. Twenty-five samples, belonging to eleven animals from Rio Grande do Sul State, Brazil, were analyzed. The direct PCR technique identified eight positive animals corroborating with results from microbiological culture. Skeletal muscle was the most common tissue type used in this study and when the animal was positive the pathogen was always detected in this tissue. Storage time of the impregnated filter paper at room temperature did not prove to be a limiting factor for the quality of the results indicating that this procedure can be carried out in the field and samples be sent in regular mail. Our results suggested that direct PCR of common filter paper impregnated with cattle tissue is a practical and economical alternative for the diagnosis of blackleg.

RESUMO: Carbúnculo sintomático, uma mionecrose aguda causada por Clostridium chauvoei, costuma ser subdiagnosticada, pois o transporte rápido de amostras adequadas para exames laboratoriais é complicado. O objetivo deste estudo foi testar a técnica de reação em cadeia da polimerase (PCR) direta, utilizando papel filtro comum impregnado com amostras de tecido bovino obtidas de animais suspeitos de carbúnculo sintomático. Foram analisadas 25 amostras, pertencentes a onze animais do estado do Rio Grande do Sul, Brasil. A técnica de PCR direta identificou oito animais positivos, corroborando com os resultados da cultura microbiológica. O músculo esquelético foi o tecido mais utilizado neste estudo e quando o animal foi positivo, o patógeno sempre foi detectado neste tecido. O tempo de armazenamento do papel filtro impregnado, à temperatura ambiente, não se mostrou um fator limitante para a qualidade dos resultados, indicando que esse procedimento pode ser realizado no local e as amostras enviadas por correio normal. Nossos resultados sugerem que a PCR direta usando papel filtro comum impregnado com tecido bovino é uma alternativa prática e econômica para o diagnóstico de carbúnculo sintomático.

Clostridial diseases diagnosed in cattle from the South of Rio Grande do Sul, Brazil. A forty-year survey (1978-2018) and a brief review of the literature / Clostridioses diagnosticadas em bovinos no sul do Rio Grande do Sul. Uma pesquisa de quarenta anos (1978-2018) e breve revisão da literatura

Clostridial diseases are important causes of livestock losses in the southern Rio Grande do Sul. Since 1978 annual surveys conducted at the "Laboratório Regional de Diagnóstico" of the "Universidade Federal de Pelotas" (LRD-UFPel) have shown that clostridial diseases represent 10.40% of the bacterial diseases diagnosed in cattle and 1.65% of all diseases diagnosis in cattle over a 40-year period. The purpose of this study is to review the clinical, epidemiological and pathological aspects of the clostridial diseases diagnosed in cattle from January 1978 to December 2018 at the LRD-UFPel in the hopes that it will constitute a useful guide for field veterinary practitioners and interested farmers. We assessed and review the necropsy protocols of 6,736 cattle; these necropsies were performed either by LRD-UFPel faculty or by field veterinary practitioners; 111 outbreaks (1.65%) were diagnosed as clostridial disease, distributed as follows: 35 outbreaks of tetanus, 34 of blackleg, 23 of bacillary hemoglobinuria, 11 of malignant edema (gas gangrene), and eight of botulism. Approximately 904, from a total of 42,480 cattle at risk, died in these outbreaks.(AU)

Clostridioses são doenças produzidas por alguma das espécies do gênero Clostridium e são importantes causas de perdas pecuárias no sul do Rio Grande do Sul. Pesquisas anuais realizadas no Laboratório Regional de Diagnóstico da Faculdade de Veterinária da Universidade Federal de Pelotas (LRD-UFPel) desde 1978 demonstraram que as clostridioses representaram 11,1% das doenças bacterianas diagnosticadas em bovinos e 1,65% de todos os diagnósticos de doenças em bovinos ao longo de 40 anos. O objetivo deste estudo é revisar os aspectos clínicos, epidemiológicos e patológicos das clostridioses diagnosticadas de janeiro de 1978 a dezembro de 2018, pelo LRD/UFPel com a intenção de que esse trabalho possa servir de guia útil para os veterinários de campo e fazendeiros interessados. Foram avaliados e revisados os protocolos de necropsia de 6.736 bovinos; essas necropsias foram realizadas pelo pessoal do LRD/UFPel ou por veterinários de campo. Cento e quatro (1,16%) casos foram diagnosticados como clostridioses, distribuídos da seguinte forma: 35 surtos de tétano, 34 de carbúnculo sintomático, 23 de hemoglobinúria bacilar, 11 de edema maligno (gangrena gasosa) e oito de botulismo. Aproximadamente 904, de um total de 42.480 bovinos sob-risco, morreram nesses surtos.(AU)

Molecular characterization of virulence genes cctA, nanA, and fliC in Clostridium chauvoei from Rio Grande do Sul and São Paulo State, Brazil / Caracterização molecular dos genes de virulência cctA, nanA e fliC em Clostridium chauvoei isolados no Rio Grande do Sul e São Paulo, Brasil

ABSTRACT: Clostridium chauvoei toxin A (CctA), neuraminidase (NanA), and flagellin (FliC) proteins contribute to the pathogenicity of Clostridium chauvoei, the causative agent of blackleg in cattle. The aim of this study was to analyze the genetic variability of cctA, nanA, and fliC genes in C. chauvoei isolates from the Rio Grande do Sul and São Paulo state- Brazil, during different sampling periods. The presence of these genes was verified through PCR amplification and partial gene sequencing of 17 strains. Alignment of PCR amplicons combined with bioinformatics analysis was used in an attempt to study the variability across C. chauvoei solates. The similarity among the partial sequences of cctA and nanA genes was 100%. The sequencing of fliC revealed three different paralog alleles of flagellin, and two strains were seen to be polymorphic, with amino acid alterations in the predicted protein. Overall, this study indicates that strains of C. chauvoei isolated in Brazil are highly conserved with respect to the virulence factors evaluated.

RESUMO: Toxina A de Clostridium chauvoei (CctA), neuraminidase (NanA) e flagelina (FliC) são proteínas que contribuem para a patogenicidade de Clostridium chauvoei, o agente causador do carbúnculo sintomático em bovinos. O objetivo deste estudo foi analisar a variabilidade genética dos genes cctA, nanA, e fliC em C. chauvoei isolados em diferentes períodos no Rio Grande do Sul e São Paulo. A presença destes genes foi verificada pela amplificação dos produtos da PCR e sequenciamento parcial dos genes de 17 cepas. Os alinhamentos da amplificação dos produtos da PCR combinados com a análise de bioinformática foram utilizados na tentativa de avaliar a variabilidade dos genes entre os isolados de C. chauvoei. A similaridade do sequenciamento parcial dos genes cctA e nanA foi 100%. O sequenciamento do fliC revelou três alelos paralogos diferentes de flagelina e duas cepas mostraram polimorfismos, causando alterações na sequência de aminoácidos. As cepas de C. chauvoei isoladas no Brasil mostraram-se altamente conservadas em relação aos fatores de virulência avaliados neste estudo.

Blackleg in a free-range brown brocket deer (Mazama gouazoubira) / Carbúnculo sintomático em veado virá de vida livre (Mazama gouazoubira)

A case of blackleg in a brown brocket deer (Mazama gouazoubira) associated with trauma from being hit by a car in southern Rio Grande do Sul is reported. The clinical signs included fever, dehydration and lethargy that worsened progressively until 36 hours after the accident, when the animal died. In the fore right limb, there was a comminuted closed fracture of the radius and ulna but no skin wounds were observed. Grossly, the musculature of the pelvic limbs presented hemorrhage, edema and emphysema. Microscopically, the muscles of both rear legs had necrosis, edema, hemorrhage and mild inflammatory infiltration of neutrophils. Clostridium chauvoei was cultured from affected skeletal muscles, and it was also detected by immunohistochemistry, confirming a diagnosis of blackleg. The overlapping habitat of cattle and brown brocket deer is proposed as a predisposing factor in this case and alerts to spillover cases maybe happening in this region. In addition, blackleg should be included as differential diagnoses of deer with post-traumatic myositis.(AU)

Descreve-se um caso de carbúnculo sintomático em um veado-virá (Mazama gouazoubira), macho, jovem, resgatado após atropelamento em uma rodovia na região sul do Rio Grande do Sul. O cervídeo apresentou febre, desidratação e letargia, progredindo para a morte em 36 horas. No membro torácico direito foi observado fratura cominutiva fechada de rádio e ulna sem a presença de feridas perfurantes. Na necropsia foi observada hemorragia, edema e enfisema na musculatura dos membros pélvicos. Microscopicamente, os músculos dos membros pélvicos apresentaram necrose, edema, hemorragia e discreto infiltrado inflamatório neutrofílico. Houve o isolamento de Clostridium chauvoei e marcação positiva na técnica de IHQ com anticorpo monoclonal anti-C. chauvoei, confirmando o diagnóstico de carbúnculo sintomático. A sobreposição de habitat entre bovinos domésticos e cervídeos pode ser um fator de risco para esta doença e chama a atenção para casos de "spillover" que podem estar ocorrendo na região. Adicionalmente, sugere-se que o carbúnculo sintomático seja incluído nos diagnósticos diferenciais de cervídeos que apresentam miosite pós-traumática.(AU)

Blackleg in cattle in the state Mato Grosso do Sul, Brazil: 59 cases / Carbúnculo sintomático em bovinos em Mato Grosso do Sul: 59 casos

This study aimed to review cases of blackleg (Clostridium chauvoei infection) diagnosed in cattle from Midwestern Brazil from 1994 to 2014 considering epidemiological, clinical, necropsy and histopathological findings. Also the following laboratory tests were used for the diagnosis of some cases of blackleg: microbiological culture and identification of the agent, microbiological culture and identification of the agent by the polymerase chain reaction (PCR), and identification of the agent in formalin fixed paraffin embedded tissues (FFPE). Criteria for presumptive diagnosis of blackleg included necrohemorrhagic emphysematous myositis consisting of inflammatory infiltrate, coagulative necrosis of myofiber, interstitial edema, hemorrhage, and gas bubbles between myofibers. Fifty nine cases from 51 outbreaks of blackleg were found, which corresponded to 1.1% of 5,375 cattle deaths investigated. In five of those outbreaks, samples of affected muscles cultures for the identification of pathogenic clostridia were made. Another three samples of similar material were cultured for clostridia with subsequent identification of the isolate by PCR. Twelve samples of FFPE affected muscle fragments were submitted to PCR for identification of the etiological agent. Except for January, cases were observed in each month of the year, with higher numbers in July-October. Most affected cattle were in the age of 7-12 years, but calves younger than 6 month-old and older than 24 months were also observed. Vaccination histories were scarce. In 32 outbreaks some vaccination history was available, but only in two of those vaccination has been carried out properly. In 56 six cases the skeletal muscles were involved. Muscles of the hind limbs were the most affected. In ten cases muscles of the tongue, myocardium and diaphragm were also affected. In three of the cases the visceral form was observed. Deaths occurred after a clinical course of 6-24 hours, but in most cases cattle were found death. Sudden death was the outcome in visceral cases (cardiac) blackleg. Clostridium chauvoei was confirmed to be the cause by culturing in 5 cases, and by PCR and histopatology in 8 cases. Bacterial culture followed by PCR did not demonstrate C. chauvoei. Calculation of the economic impact indicates that blackleg is a frequent disease in the state of Mato Grosso do Sul (MS) that inflicts significant economic loss. The amount of these losses would be reduced through proper vaccination programs against the prevalent strains of C. chauvoei in the region.(AU)

Este estudo foi realizado com o objetivo de descrever casos de carbúnculo sintomático (infecção por Clostridium chauvoei) diagnosticados em bovinos do Centro-Oeste brasileiro de 1994-2014, avaliando a epidemiologia, os sinais clínicos, os achados de necropsia e a histopatologia; objetivou-se também avaliar os seguintes testes laboratoriais para o diagnóstico de carbúnculo sintomático: cultura microbiológica e identificação do agente, cultura microbiológica e identificação do agente por reação em cadeia de polimerase (PCR) e identificação do agente em material fixado em formol e incluído em parafina (FFIP). Os critérios para o diagnóstico presuntivo de carbúnculo sintomático incluíram miosite necro-hemorrágica enfisematosa, caracterizada por infiltrado inflamatório, necrose de coagulação de miofribras, edema intersticial, hemorragia e bolhas de gás em meio às miofribras. Cinquenta e nove casos oriundos de 51 surtos foram encontrados, o que corresponde a 1,1% das 5.375 mortes de bovinos investigadas. Em cinco desses casos, amostras do músculo afetado foram cultivadas para clostrídios patogênicos. Amostras semelhantes de outros três animais foram cultivadas para clostrídios e os isolamentos identificados subsequentes por PCR. Doze fragmentos de músculo afetado FFIP foram submetidos a PCR para identificação do agente etiológico. Com exceção de janeiro, os casos de carbúnculo sintomático foram observados em todos os meses do ano com uma maior incidência em junho-outubro. A faixa etária da maioria dos bovinos afetados era de 7-12 anos de idade, mas bovinos mais jovens que 6 meses e mais velhos que 24 meses foram também afetados. Os históricos de vacinação eram escassos nesses surtos. Em 32 surtos havia alguma informação sobre a vacinação, mas em apenas dois casos a vacinação tinha sido realizada adequadamente. Cinquenta e seis casos de carbúnculo sintomático deste estudo eram casos clássicos afetando os músculos esqueléticos. Os músculos mais afetados foram os dos membros pélvicos. Em dez casos os músculos da língua, miocárdio e diafragma estavam também afetados. Apenas três dos casos apresentaram a forma visceral (cardíaca). O curso clínico foi de 6-24 horas, mas na maioria dos casos os bovinos foram encontrados mortos. Em casos da forma visceral ocorria morte súbita. Clostridium chauvoei foi confirmado como o agente causal por cultura em cinco casos e por PCR em amostra FFIP em 8 casos. Cultura bacteriana seguida de PCR do isolado não demonstrou C. chauvoei. Carbúnculo sintomático é uma doença frequente em bovinos no Mato Grosso do Sul podendo provocar importantes prejuízos para os produtores rurais. Esses prejuízos podem ser reduzidos através de um programa de vacinação adequado usando-se vacinas eficazes contra cepas de C. chauvoei prevalentes na região.(AU)

Hiperparatiroidismo primario clásico secundario a un adenoma paratiroideo / Secondary classic primary hyperparathyroidism to a parathyroid adenoma

Objetivo: Notificar un caso de hiperparatiroidismo primario sintomático secundario a un adenoma de paratiroideo. Caso: Femenina de 34 años con cuadro de 4 años de evolución con múltiples fracturas patológicas, pérdida depeso, astenia. Los exámenes revelaron hipercalcemia, hipofosfemia y PTH elevada (968 pg/ml). Se hospitalizó para manejo de dolor articular severo asociado a multiples fracturas de fragilidad, realizándose niveles de PTH reportando niveles elevados (968 pg/mL) y gammagrama y Spect de paratiroides material 25mci 99m MIBI que evidencio patrón sugestivo de adenoma paratiroideo inferior izquierdo. Para lo cual se realiza exéresis del adenoma. Discusión: Hiperparatiroidismo primario (PHPT), un trastorno endocrino común caracterizado por hipercalcemia y niveles elevados o inadecuadamente normales de PTH, su diagnóstico se base en una evaluación bioquímica. Un de las principales causas es el adenoma o hiperplasia deparatiroides

Objective: To report a case of symptomatic primary hyperparathyroidism secondary to a parathyroid adenoma. Case: A 34-year-old woman with a 4-year history with multiple pathologicalfractures, weight loss, asthenia. The examinations revealed hypercalcemia, hypophosphimia and elevated PTH (968 pg / ml). He was hospitalized for severe joint pain management associated with multiple fragility fractures, with high levels of PTH (968 pg / mL) and gammagram and parathyroid prospect material 25mci 99m MIBI evidencing a pattern suggestive of lower left parathyroid adenoma. For which exeresis of the adenoma is performed. Discussion: Primary hyperparathyroidism (PHPT), a common endocrine disorder characterized by hypercalcemia and elevated or inadequately normal levels of PTH. Its diagnosis is based on a biochemical evaluation. One of the main causes is parathyroid adenoma orhyperplasia

CONDICIONES DE SALUD Y TRABAJO ASOCIADAS AL DOLOR LUMBAR EN LOS OPERARIOS DEL ÁREA DE PRODUCCIÓN DE UNA EMPRESA DE LÁCTEOS EN BARRANQUILLA / CONDITIONS OF HEALTH AND WORK ASSOCIATED WITH LUMBAR PAIN IN THE OPERATORS OF THE PRODUCTION AREA OF A LACTEOS COMPANY IN BARRANQUILLA

Introducción: El dolor lumbar de origen laboral, es considerado unode los problemas más comunes en salud pública, afectando de tal forma el bienestar y la calidadde vida de los trabajadores. Objetivo:Identificar las condiciones de salud y trabajo asociadas aldolor lumbaren los operarios del área de producción de una empresa de lácteos en la ciudad de Barranquilla. Metodología:El tipo de estudio que se realizó es descriptivode corte transversal. Se tomó una muestra aleatoria de 80 individuosdel área de producción, quienes a través de un consentimiento informado dieron el aval para que seaplicara elCuestionario Nórdico de autorreporte de molestias o síntomas, instrumento diseñado y validado por Kuorinka.Resultados:Seidentificó que el 59% deltotal de los trabajadores encuestados reportaron dolor lumbar durante el último año, seguido de dolor en muñecas con un 40% del total.El 43% de los trabajadores reporta que el dolor en la columna lumbar les ha impedido realizar actividades en casa o en el trabajo.El 82% de los síntomas reportados por los trabajadores están localizados en la columna lumbar. De los 31 operarios sintomáticos de columna lumbar, el 67.74% este en sobrepeso con IMC igual o mayor a 25.Conclusiones:Los resultados del estudio demuestran que el dolor lumbar es un problema de gran impacto,por endese deben realizar intervenciones preventivas, enfocadas en mejorar el sistema de trabajo a través del diseño de herramientas y equipos que disminuyan el esfuerzo físico de los trabajadores

Introduction:Labor-related back pain is considered one of the most common problems in public health, affecting the well-being and quality of life of workers.Objective:To identify the health and work conditions associated with back pain in the operatives of the production area of a dairy company in the city of Barranquilla.Methodology:The type of study that was carried out is descriptive of cross section. A random sample of 80 individuals from the production area was taken, who through an informed consent gave the endorsement to apply the Nordic Questionnaire self-report of discomfort or symptoms, instrument designed and validated by Kuorinka. Results:It was identified that 59% of the total workers surveyed reported lumbar pain during the last year, followed by pain in dolls with 40% of the total. 43% of workers report that pain in the lumbar spine has prevented them from doing activities at home or at work. 82% of the symptoms reported by workers are located in the lumbar spine. Of the 31 symptomatic workers of the lumbar spine, 67.74% were overweight with a BMI equal to or greater than 25.Conclusions:The results of the study show that back pain is a problem of great impact, therefore preventive interventions should be made, focused on improving the work system through the design of tools and equipment that reduce the physical effort of workers

Correlates of Pelvic Floor Disorders in Women Fifty years and Over Attending Out-patient Gynaecology and Urology Clinics at a Tertiary Hospital in Kingston and St Andrew, Jamaica / Correlatos de los Trastornos del Suelo Pélvico en Mujeres de Cincuenta años o más que Asisten a las Clínicas Externas de Ginecología y Urología en un Hospital Terciario in Kingston y Saint Andrew, Jamaica

ABSTRACT Objective: To identify correlates of pelvic floor disorders in a clinic-based sample of women fifty years and older. Method: Two hundred and sixty-three randomly selected gynaecology and urology clinic attendees fifty years and older provided information on health, reproductive history, sociodemographics and pelvic floor disorders. Associations between having at least one pelvic floor disorder and the other variables were explored using bivariate and multivariate analyses. Results: Approximately, 52% of women had at least one pelvic floor disorder and each additional vaginal delivery increased these odds by 14%, controlling for important health and sociodemographic variables. Conclusion: Pelvic floor disorders can negatively affect quality of life in older age. Given the increased likelihood of their occurrence with each vaginal delivery, reproductive and post-reproductive health services should prioritise female pelvic medicine, pelvic floor strengthening and physical therapy to improve women's genitourinary health.

RESUMEN Objetivo: Identificar los correlatos de los trastornos del suelo pélvico en una muestra clínica de mujeres de 50 años o más. Método: Doscientos sesenta y seis mujeres de cincuenta años o más, que asisten a la clínica de ginecología y urología, fueron seleccionadas aleatoriamente. Dichas pacientes proporcionaron información sobre salud, historial reproductivo, y trastornos sociodemográficos del suelo pélvico. Las asociaciones entre tener al menos un trastorno del suelo pélvico y las otras variables se exploraron mediante análisis bivariantes y multivariantes. Resultados: Aproximadamente 52% de las mujeres tenían al menos un trastorno del suelo pélvico, y cada parto vaginal adicional aumentó estas probabilidades en un 14%, controlando las variables sanitarias y sociodemográficas importantes. Conclusión: Los trastornos del suelo pélvico pueden afectar negativamente la calidad de vida en la edad avanzada. Dada la mayor probabilidad de que ocurran con cada parto vaginal, los servicios de salud reproductiva y pos reproductiva deben priorizar la medicina pélvica femenina, el fortalecimiento del suelo pélvico y la terapia física para mejorar la salud genitourinaria de las mujeres.

Pasaje al acto y acto: más allá de la comunidad de estructura / Passage to the act and act: beyond the community of structure

El presente trabajo se enmarca en el proyecto de investigación UBACyT (2014-2017): "Articulación de las conceptualizaciones de J. Lacan sobre la libertad con los conceptos fundamentales que estructuran la dirección de la cura: interpretación, transferencia, posición del analista, asociación libre y acto analítico". Director: Pablo D. Muñoz. Acreditado y financiado para el Período:01-08-2014 al 31-07-2016. Participación en calidad de becario con el proyecto de investigación UBACyT (2013-2015): "La responsabilidad del sujeto por el pasaje al acto en Louis Althusser". Si bien, tal y como se ha propuesto anteriormente (Grieco, 2013), la lectura del acto homicida de Louis Althusser como pasaje al acto resulta satisfactoriamente aplicable, se propone la delimitación conceptual entre las categorías de pasaje al acto y acto, con el objeto de poder confirmar, o llegado el caso refutar, el estatuto de pasaje al acto del asesinato en cuestión. Se considera además la categoría de acto sintomático, propuesta por J. Allouch (Allouch, 1992). Se concluye que la lectura del pasaje al acto es la más precisa a la hora de delimitar las coordenadas del acto homicida.

UBACyT research project (2014-2017): \"Articulation of J. Lacan´s conceptualizations on freedom with the fundamental concepts that structure the cure direction: interpretation, transfer, analyst position, free association and analytic act\". Director: Pablo D. Muñoz. Accredited and financed for the period: 01-08-2014 to the 31-07-2016. UBACyT research project (2013-2015): \"Subjective responsibility for the passage to act on Louis Althusser\". This work proposes the conceptual delimitation between passage to act andact, in order to confirm, or eventually refute, the passage to the act lecture of Louis Althusser´s crime (Grieco, 2013). It is also considered the symptomatic act lecture proposed by J. Allouch (Allouch, 1992). It is concluded that the passage to the act lecture is the most accurate in order to explain the coordinates of the homicidal act.

Conocimientos, percepciones y prácticas de personal de salud en la detección de sintomáticos respiratorios en una región de muy alto riesgo de trasmisión de tuberculosis en el Perú / Knowledge, perceptions and practices of health care workers about detection ofrespiratory symptomatics in a very high risk region of tuberculosis transmission in Peru

Introducción. Tacna es una región de muy alto riesgo de transmisión de tuberculosis. Sin embargo, se ha encontrado que el rendimientodiagnóstico de la baciloscopia en sus establecimientos de salud es del 1,5%. Objetivo. Describir los conocimientos, percepcionesy prácticas sobre detección de sintomáticos respiratorios (SR). Diseño. Estudio transversal. Lugar. Establecimientos de salud de laDirección Regional de Salud de Tacna. Participantes. Profesionales de salud (médicos y enfermeras). Intervenciones. Cuestionarioestructurado auto-administrado y anónimo, elaborado por los autores del estudio en base a la vigente “Norma Técnica de Salud parala Atención Integral de las Personas Afectadas por Tuberculosis”. Principales medidas de resultado. Frecuencia absoluta y relativa deconocimientos adecuados, percepciones y prácticas sobre detección de sintomáticos respiratorios. Resultados. De 178 profesionalesde salud (médicos y enfermeras), 89,9% conocían la definición de SR; 93,3% sabía que debe solicitarse dos muestras de esputo a losSR; 22,5% conocía el indicador que evalúa la calidad de detección de SR, y 28,1%, el indicador que evalúa la capacidad del personalpara realizar la baciloscopia entre los sintomáticos respiratorios identificados; 49,4% sabía que la meta del indicador de intensidadde búsqueda es 5 por 100 atenciones en mayores de 15 años y 60,8% señaló haber leído la norma técnica vigente. Conclusiones. Enel estudio, existió una brecha en el conocimiento de médicos y enfermeras en la detección de sintomáticos respiratorios. Esta brechafue mayor en el conocimiento sobre los indicadores operacionales de detección.

Introduction. Tacna is a region with very high risk of tuberculosis transmission; however, the diagnostic performance of directsmears in their healthcare centers is 1.5%. Objectives. To describe the knowledge, perceptions and practices about detectionof respiratory symptomatic subjects. Design. Cross sectional study. Setting. Health care centers of Tacna Regional HealthDirectorate. Participants. Health professionals including physicians and nurses. Interventions. A structured self-administered,anonymous questionnaire, developed by the authors, based on the current "Technical Standard for Comprehensive Management ofPeople Affected by Tuberculosis", was applied to 178 health professionals (physicians and nurses). Main outcome measures. Absoluteand relative frequency of adequate knowledge, perceptions and practices on detection of respiratory symptomatic subjects. Results. Inthe study, 89.9% knew the definition of respiratory symptomatic, 93.3% was aware that two sputum specimens should be requested tothe respiratory symptomatic persons, 22.5% recognized the indicator that assesses the quality of detection of respiratory symptomatic,and 28.1% knew the indicator that assesses the ability of staff to perform the smear in identified respiratory symptomatic. 49.4%distinguished that the goal of the search intensity indicator is 5 per 100 attentions in people older than 15 years, and 60.8% reportedhaving read the current technical standard. Conclusions. A gap in the knowledge of physicians and nurses in the detection of respiratorysymptomatic subjects was found. This gap was greater in knowledge about operational indicators of detection.

Tuberculosis vertebral / Spinal tuberculosis

Introducción: la tuberculosis es una enfermedad infecciosa. Es una importante causa de incapacidad y muerte en muchas zonas del mundo. Además de la localización pulmonar, que es la más frecuente, puede ocurrir una diseminación del bacilo hacia otros órganos, dando lugar a la llamada tuberculosis extrapulmonar, que puede afectar cualquier órgano o tejido, incluyendo la columna vertebral. Caso clínico: se presenta un caso con tuberculosis vertebral en un paciente de una institución cerrada de la ciudad de Pinar del Río; este debutó inicialmente con síntomas respiratorios y toma del estado general. Se le realizó una tomografía axial computarizada de mediastino que mostró lesiones óseas a nivel vertebral. El tratamiento actual resultó favorable. Conclusiones: la forma clínica extrapulmonar es de presentación menos frecuente, sin embargo, su diagnóstico es de mucha importancia en este grupo poblacional muy vulnerable.

Introduction: tuberculosis is an infectious disease. It is a major cause of disability and death in many parts of the world. Pulmonary location is the most common, where a dissemination of the bacillus may occur and infect other organs and tissues, leading to extrapulmonary tuberculosis, including the spine. Clinical case: the case of a patient admitted in a closed-treatment unit in Pinar del Río city presented vertebral extrapulmonary tuberculosis, who initially presented respiratory symptoms and poor general status. A computed tomography [CT] of the mediastinum showed osseous lesions at vertebral level. Current treatment provided a favorable improvement. Conclusions: extrapulmonary clinical presentation is less common; however, its diagnosis is very important for this very vulnerable population group.

Psicosis sintomáticas / Symptomatic psychoses

En el estudio de las psicosis existe un grupo, las psicosis sintomáticas, que son comunes dentro del ámbito clínico en general y que son de relevancia fundamental para todo médico, psiquiatra o no psiquiatra. Se define a las psicosis sintomáticas como alteraciones mentales que son causadas por determinadas condiciones somáticas y que no dependen de una desviación primaria. El término sintomático alude a aquellas psicosis que son producto de una noxa que tiene un efecto sobre el cerebro independientemente del origen y etiología.

In the study of psychosis there is a group, the symptomatic psychosis, that are common in the medical field in general, and relevant for all physicians (psychiatrists and other physicians who are not psychiatrists). Symptomatic psychoses are defined as all kind of mental illnesses that are caused by somatic conditions and that do not depend from a primary deviation. The term “symptomatic” refers to that kind of psychosis that is product of an injury that has an effect on the brain, independently of the origin and ethiology.

Rendimiento diagnóstico de la baciloscopía en sintomáticos respiratorios usuarios de establecimientos de salud del primer nivel en un distrito de Lima Metropolitana / Diagnostic performance of sputum smear microscopy in respiratory symptomatics users of primary care level facilities of a district of Lima Metropolitana

Objetivo: Determinar el rendimiento de la baciloscopía en sintomáticos respiratorios (SR) que acuden a cuatro establecimientos de salud del primer nivel de atención de un distrito de Lima Metropolitana. Métodos: Se realizó un estudio de fuentes secundarias de tipo observacional y corte transversal. Se utilizó el Libro de Registro de Sintomáticos Respiratorios del año 2012 de cuatro establecimientos de salud del distrito de Santa Anita. Se determinó el porcentaje de baciloscopía positivas para los SR registrados en el libro de registros, además se calcularon tres indicadores operacionales incluidos en la Norma Técnica de Salud para el Control de la Tuberculosis (NTSCTB). Resultados: Se analizó los datos de 4 845 sintomáticos respiratorios identificados (SRI) en el libro de registro, de los cuales 4 726 fueron SR examinados (SREx) según la NTSCTB. Del total de SREx, 2,4% fueron casos de tuberculosis (TB) pulmonar con frotis positivo. La proporción de SREx entre los SRI fue del 97,5%; la proporción de baciloscopía con diagnóstico positivo entre el total de baciloscopía de diagnóstico fue de 2,0% y el promedio de baciloscop¡a entre los SREx fue de 1,9. Conclusiones: El rendimiento de la baciloscopía entre SR es menor a lo reportado en otros estudios. Si bien algunos indicadores operacionales se encuentran cercanos a la meta que establece la NTSCTB, la proporción de baciloscopía con diagnóstico positivo entre el total de baciloscopía realizadas reflejan posibles fallas en el proceso de identificación de los SR en el primer nivel de atención.

Objective: To determine the yield of smear sputum within symptomatic respiratory (SR) that assists to four primary health levels setting of a Lima Metropolitana district. Methods: A cross sectional study of secondary data was performed. The percentage of positive smears between SR registered in the Symptomatic register book was calculated. Also were calculated three indicators included in the Health Technical Standard for the Control of Tuberculosis. Results: 4 845 identified symptomatic respiratory (ISR) were in the register books of which 4 726 were examined symptomatic respiratory (ESR). 2,4% of ESR was tuberculosis smear positive. The proportion of ESR between ISR was 97,5% ; the proportion of positive smears within the total of smears performed was 2,0% and the mean of the smears between ESR was 1,9%. Conclusions: The yield of sputum smear between ESR is lesser that reported in other studies. Although some operational indicators are close to the goal established by technical standard, the proportion of positive smears within total of smears performed reflects possible failures in the identification process of symptomatic respiratory at the primary health level.

Prevalence of patients with respiratory symptoms through active case finding and diagnosis of pulmonary tuberculosis among prisoners and related predictors in a jail in the city of Carapicuíba, Brazil / Prevalência de sintomáticos respiratórios através da busca ativa, diagnóstico de tuberculose pulmonar entre pessoas privadas de liberdade e fatores associados em uma cadeia pública no município de Carapicuíba, Brasil

BACKGROUND: Prisons offer a fertile setting for the transmission of tuberculosis due to the presence of many classic risk factors for both infection and disease: overcrowding, poor ventilation, and little sunlight. Prisoners are often malnourished and have poor hygiene and are more likely to have a background of alcohol and drug abuse. OBJECTIVES: To determine the prevalence of prisoners with respiratory symptoms and pulmonary tuberculosis (PTB) through active case finding in a prisoner population of the county jail of Carapicuíba, and to study possible related variables. METHODS: This was a cross-sectional study, and respiratory symptomatic individuals (RSI) were detected through active case finding. Socio-demographic data were collected from inmates' judicial history using a specific questionnaire. The RSI provided sputum specimens for detection of acid fast bacilli and culture for mycobacterium identification. RESULTS: Among the 397 prisoners studied, 154 reported respiratory symptoms for more than three weeks, and were considered RSI; the variables associated with RSI were: having already been tried and incarcerated for more than six months and seven were diagnosed as PTB (1,763 cases/ 100,000 inhabitants). CONCLUSIONS: The prevalence of RSI and PTB cases were respectively 39 and 35 times greater than the general population.

INTRODUÇÃO: Estabelecimentos prisionais são um campo favorável para a transmissão de tuberculose (TB), devido a presença de vários fatores de risco clássicos, tanto para a infecção como para a doença: aglomeração, falta de ventilação e de iluminação, como também o fato de os detentos receberem uma nutrição deficitária e os locais possuí-rem condições de higiene precárias; uma grande proporção dos detentos apresentam história pregressa de alcoolismo e uso de drogas ilícitas nas dependências desses estabelecimentos. OBJETIVOS: Determinar a prevalência de sintomáticos respiratórios (RSI) e casos de tuberculose pulmonar (TBP) através da busca ativa em população privada de liberdade na cadeia pública do município de Carapicuíba e estudar os prováveis fatores associados. MÉTODO: O desenho de estudo foi do tipo corte transversal, realizou-se a busca ativa de RSI e os dados sociodemográficos foram coletados em questionários específicos a partir dos processos judiciais dos participantes. Os RSI foram submetidos ao exame de baciloscopia e cultura para micobactérias do escarro. RESULTADOS: Dos 397 detentos estudados, 154 relataram tosse por mais de três semanas, considerados RSI. Os fatores associados à presença de sintomas respiratórios foram estar preso há mais de seis meses e ter sido julgado. Foram diagnosticados 7 casos de tuberculose pulmonar, 1.763 casos por 100.000 detentos. CONCLUSÕES: A prevalência de RSI e casos de TBP foram 39 e 35 vezes superior ao encontrado na população em geral respectivamente.

Mionecroses clostridiais bovinas / Bovine clostridial myonecrosis

As mionecroses são enfermidades altamente fatais, representadas pelo carbúnculo sintomático e edema maligno. Com o objetivo de determinar a ocorrência dos diferentes clostrídios envolvidos nas mionecroses em bovinos no Brasil, foi realizado um estudo retrospectivo a partir de 30 casos suspeitos de carbúnculo sintomático e edema maligno. Empregou-se a técnica de estreptavidina biotina peroxidase em tecidos de bovinos fixados em formol e incluídos em parafina de arquivos de patologia de diferentes estados do país. Foram detectados 21 Clostridium chauvoei (70%), cincoClostridium septicum(17%), seguidos de doisC. chauvoeiassociado aoC. septicum (7%), um C. chauvoei mais Clostridium sordellii (3%) e um C. chauvoei mais Clostridium novyi tipo A (3%). Este é o primeiro diagnóstico de C. novyi tipo A no Brasil, e o primeiro relato da ocorrência de C. chauvoei associado à lesão no miocárdio. Os achados da maior ocorrência de C. chauvoei e C. septicum corroboram com estudos anteriores no país. Estes dados sobre a ocorrência dos agentes responsáveis pelas mionecroses em diferentes estados do país são de extrema importância frente às decisões relativas ao controle dessas enfermidades.

Clostridial myonecroses are highly fatal diseases, characterized by black leg and malignant oedema. In order to determine the occurrence of the different agents involved in Brazilian clostridial myonecrosis, a retrospective study was conducted concerning 30 suspected cases of blackleg and gas gangrene using a streptavidin-biotin peroxidase technique in formalin-fixed, paraffin-embedded tissues of cattle from the archives of pathology of different states of Brazil. The clostridia predominantly detected wereClostridium chauvoei(70%), followed by Clostridium septicum (5 cases or 17%), C. chauvoei plus C. septicum (2 cases or 7%), C. chauvoei plus Clostridium sordellii (1 case or 3%), C. chauvoei plus Clostridium novyi type A (1 case or 3%). This is the first diagnosis of C. novyi type A in Brazil. The findings of the higher occurrence of C. chauvoei and C. septicum concur with previous works in Brazil. This article also includes the first report in Brazil of the occurrence of C. chauvoei associated with a lesion in the myocardium. Thus, this study supplies important data about the occurrence of the agents responsible for clostridial myonecrosis in different states of Brazil, these data being important for decisions relative to control of these diseases.

Perspectivas del paciente en relación con la calidad de los esputos para baciloscopias en tuberculosis / The outlook of patients with respect to the quality of sputum smears for bacilloscopy in tuberculosis

INTRODUCCIÓN: la tuberculosis (TB) es aún un grave problema de salud para muchos países. Un aspecto importante es la efectividad en la pesquisa de las personas sintomáticas respiratorias (SR) sospechosas de la enfermedad. OBJETIVO: evaluar la factibilidad de la aplicación de encuestas epidemiológicas rápidas para algunos aspectos de la recolección y calidad de los esputos en sintomáticos respiratorios. MÉTODOS: se aplicó un cuestionario previamente validado por expertos a personas sintomáticas respiratorias de 10 municipios de Ciudad de La Habana en enero-febrero de 2006. Para la selección de los sintomáticos respiratorios, se ejecutó un muestreo por conglomerados trietápico. RESULTADOS: la encuesta tuvo buena aceptación de la población investigada, que aportó los datos solicitados. El tiempo promedio de duración de la tos fue 15,3 d; 87,1 por ciento de las muestras de esputos se obtuvo en las primeras horas de la mañana y 80 por ciento de los investigados las consideraron de buena calidad. CONCLUSIONES: estos hallazgos son aceptables e importantes para la vigilancia y control de la tuberculosis en esta provincia y muestran la utilidad de las encuestas.

INTRODUCTION: tuberculosis is still one of the most serious health problems in many countries and one important aspect is the effective screening of respiratory symptomatic TB suspects. OBJECTIVES: to evaluate the feasibility in the administration of rapid epidemiological surveys for some aspects of sputum smears collection and quality in respiratory symptomatic TB suspects. METHODS: a previously expert-validated questionnaire was administered to people with respiratory symptoms from January to February 2006 in ten municipalities of Ciudad de la Habana province. For the selection of the respiratory symptomatic suspects, a three-phase cluster sampling was performed. RESULTS: the survey was well accepted by the study population which provided the requested data. Cough persisted for 15,3 days; 87,1 percent of sputum smears were taken early in the morning and 80 percent of the studied people considered it as good. CONCLUSIONS: these findings are acceptable and important for TB surveillance and control in this province and show the usefulness of these surveys.

Mutación fundadora en una familia argentina con cáncer colorrectal hereditario / Detection of a founder mutation in an Argentine family with hereditary non polyposis colorectal cancer

El cáncer colorrectal hereditario no poliposo (CCHNP) se relaciona con mutaciones en los genes reparadores de ADN (MLH1, MSH2 y MSH6). La mayoría de estas alteraciones son familia-específicas y su detección suele requerir la secuenciación completa de los genes relacionados. Se detectó una mutación puntual (2269-2270insT) en el último codón del gen MLH1 en familias de un área del norte de Italia (Reggio Emilia) y su origen se considera debido a un efecto fundador. En este trabajo presentamos una familia mendocina con CCHNP portadora de la misma mutación, cuyos ancestros eran oriundos de Reggio Emilia. Para la detección de la mutación se diseñó una estrategia basada en PCR y posterior corte enzimático. La mutación fue hallada en tres integrantes de la familia estudiada, dos de los cuales no presentaban sintomatología clínica. Estos pacientes fueron seguidos preventivamente mediante colonoscopias. La metodología utilizada en nuestro laboratorio fue específica y sensible para la detección de una mutación previamente registrada y permitió realizar el diagnóstico genético molecular en el país, evitando el envío de muestras al extranjero. Es de importancia destacar que el diagnóstico genético pre-sintomático de cáncer hereditario, enfocado desde un grupo multidisciplinario de profesionales, permite un mejor seguimiento y apoyo a las familias afectadas.

Hereditary non polyposis colorectal cancer (HNPCC) has been related to mutations in the DNA mismatch repair genes (MLH1, MSH2 y MSH6). Mutation detection analysis requires the complete sequencing of these genes, given the high frequency of family-specific alterations. A point mutation (2269- 2270insT) in the last codon of the MLH1 gene has been detected in families from a northern region of Italy (Reggio Emilia).Given that this alteration was registered only in people from this region, it has been considered a founder mutation. In this work, we present an Argentine HNPCC family whose ancestors were natives from the Reggio Emilia, Italy, and who were carriers for this mutation. In order to detect the genetic alteration, a PCR was developed followed by a restriction enzyme incubation assay. The mutation was detected in 3 family members, two of them without clinical symptoms. The PCR/restriction enzyme methodology has been sensitive and specific for the detection of this mutation. It has allowed the performance of a pre-symptomatic genetic diagnosis in the Argentine HNPCC family, avoiding sending samples abroad. It is worth mentioning that pre-symptomatic diagnosis of hereditary cancers allows enhanced surveillance and support for the affected families when it is performed by a multidisciplinary group.