Dolor pélvico en mujeres con episiotomía versus mujeres con desgarro perineal de segundo grado / Pelvic pain in women with episiotomy versus women with second-degree perineal tear

Introducción: El dolor pélvico es una de las disfunciones del suelo pélvico más comunes en el posparto, influyendo el grado de lesión y el momento en el que se valora. El grado de afección de una episiotomía medio-lateral es similar al desgarro perineal de segundo grado, por ello se decidió realizar un estudio que recogiera el grado de dolor referido mediante el Cuestionario de dolor de McGill. Material y métodos: Se realizó un estudio epidemiológico observacional, longitudinal prospectivo, de cohortes dinámicas, entre 384 mujeres, de las cuales 255 tuvieron un desgarro de segundo grado y a 129 se les practicó una episiotomía. Se realizó una valoración del suelo pélvico, junto con una recogida de datos (realización o no de masaje perineal, ejercicios musculares de suelo pélvico, presencia de Kristeller, tipo de sutura) así como el grado y tipo de dolor mediante el cuestionario de McGill, durante el puerperio inmediato, a las 6 semanas y a los 6 meses del posparto. Resultados: En el puerperio inmediato más del 50% de las mujeres refirieron algún tipo de sensación dolorosa, sin encontrar diferencias significativas entre ambas cohortes. Mientras que, a lo largo de la evolución del estudio, se produjo una disminución progresiva del dolor en ambas cohortes. Ya a las 6 semanas de posparto, menos del 33% de las mujeres refirieron alguna sensación dolorosa, considerándose como ausencia de dolor según los criterios del cuestionario de McGill. Conclusión:La presencia de episiotomía o desgarro perineal de segundo grado no ha tenido relación con el dolor perineal.(AU)

Introduction: Pelvic pain is one of the most common pelvic floor dysfunctions in the postpartum period, depending on the degree of injury and the time at which it is assessed. The degree of involvement of a mediolateral episiotomy is similar to that of a second degree perineal tear, therefore it was decided to conduct a study to collect the degree of pain reported using the McGill Pain Questionnaire. Material and methods: An observational, prospective longitudinal epidemiological study of dynamic cohorts was conducted among 384 women, of whom 255 had a second-degree tear and 129 had undergone an episiotomy. An assessment of the pelvic floor was carried out, together with data collection (performance or not of perineal massage, pelvic floor muscle exercises, presence of Kristeller, type of suture) as well as the degree and type of pain using the McGill Questionnaire, in the immediate puerperium, at six weeks, and six months of postpartum. Results: In the immediate puerperium more than 50% of women reported some type of painful sensation, without finding significant differences between both cohorts. However, as the study evolved, there was a progressive decrease in pain in both cohorts. By six weeks postpartum, less than 33% of women reported a painful sensation, considered as absence of pain according to the criteria of the McGill questionnaire. Conclusion: The presence of episiotomy or second degree perineal tear was not related to perineal pain.(AU)

Discordancia del tratamiento de la enfermedad pulmonar obstructiva crónica según la guía GesEPOC vs. GOLD / Discordance in treatment of chronic obstructive pulmonary disease following GesEPOC Guideline vs. GOLD

Introducción En España, el tratamiento farmacológico de la enfermedad pulmonar obstructiva crónica se basa en la Global Initiative for Chronic Obstructive Lung Disease (GOLD) y la Guía española de la enfermedad pulmonar obstructiva crónica (GesEPOC). El objetivo principal de este estudio fue evaluar la concordancia entre los tratamientos de inicio asignados por GOLD y GesEPOC. Material y métodos Estudio de simulación. Se emplearon las siguientes variables: FEV1%, exacerbaciones, disnea inicial, eosinofilia en sangre, antecedente de asma y grado de reversibilidad en la prueba broncodilatadora. Cuatro neumólogos clasificaron/asignaron un tratamiento a cada paciente (2 de ellos según GOLD y 2 según GesEPOC). Se calculó el coeficiente Kappa de Cohen global. Resultados Se incluyeron 467 pacientes. La concordancia entre el tratamiento recomendado por GOLD y GesEPOC fue pobre (Kappa: 0,17, IC 95%: 0,12-0,23). Conclusión Existe una pobre concordancia entre GOLD y GesEPOC a la hora de iniciar tratamiento en los pacientes con enfermedad pulmonar obstructiva crónica (AU)

Introduction Pharmacological treatment of chronic obstructive pulmonary disease in Spain is usually chosen according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) or Spanish guidelines for chronic obstructive pulmonary disease (GesEPOC). The main objective of this study was to evaluate the degree of concordance between treatment for newly diagnosed chronic obstructive pulmonary disease patients according to GOLD and GesEPOC. Material and methods Simulation study. The following variables were used: FEV1%, exacerbations, dyspnoea at first evaluation, blood eosinophilia, personal history of asthma, and degree of bronchodilator reversibility. Four investigators classified and assigned a treatment to each patient (2 using GOLD criteria and the other 2 using GesEPOC). Global Kappa index was calculated. Results The database included 467 patients. Agreement between treatment decided using GOLD and GesEPOC was poor (Kappa: 0.17, 95% CI: 0.12-0.23). Conclusion There is a poor agreement between GOLD and GesEPOC recommendations for initial chronic obstructive pulmonary disease treatment (AU)

Discordance in treatment of chronic obstructive pulmonary disease following GesEPOC guideline vs. GOLD.

INTRODUCTION: Pharmacological treatment of chronic obstructive pulmonary disease in Spain is usually chosen according to the Global Initiative for Chronic Obstructive Lung Disease (GOLD) or Spanish guidelines for chronic obstructive pulmonary disease (GesEPOC). The main objective of this study was to evaluate the degree of concordance between treatment for newly diagnosed chronic obstructive pulmonary disease patients according to GOLD and GesEPOC. MATERIAL AND METHODS: Simulation study. The following variables were used: FEV1%, exacerbations, dyspnoea at first evaluation, blood eosinophilia, personal history of asthma, and degree of bronchodilator reversibility. Four investigators classified and assigned a treatment to each patient (2 using GOLD criteria and the other 2 using GesEPOC). Global Kappa index was calculated. RESULTS: The database included 467 patients. Agreement between treatment decided using GOLD and GesEPOC was poor (Kappa: 0.17, 95% CI: 0.12-0.23). CONCLUSION: There is a poor agreement between GOLD and GesEPOC recommendations for initial chronic obstructive pulmonary disease treatment.

Yersinia pseudotuberculosis serotype O:1 infection in a captive Seba's short tailed-fruit bat (Carollia perspicillata) colony in Switzerland.

BACKGROUND: Between February and April 2016, a slight increase in mortality was observed in a colony consisting of 400 captive Seba's short-tailed bats (Carollia perspicillata). These animals cohabited with other nocturnal animal species in a dome of a private zoo in Switzerland. RESULTS: Gross and histological analysis of two (14.3%) out of the 13 animals submitted for necropsy within this period revealed a necrosuppurative pneumonia, hepatitis, splenitis, enterocolitis, and endometritis, with abundant intralesional colonies of Gram-negative rods. Yersinia (Y.) pseudotuberculosis serotype O:1 and biotype 1 belonging to the sequence type ST90 was isolated from the affected organs in both animals. Following this diagnosis, » of the colony (99 animals) was culled and submitted for gross and histopathological analysis, and a bacterial culture selective for Yersinia spp. of lung, liver, and spleen was performed. From these 99 animals, one gravid female was tested and found to be positive for Y. pseudotuberculosis in the absence of clinical symptoms and histopathological lesions. PCR analysis of altogether three bacterial isolates for virulence factors revealed the presence of the ail gene, and one isolate was also positive for the virF and yadA plasmid genes. CONCLUSIONS: These findings suggest that Carollia perspicillata are susceptible to lethal yersiniosis but do not represent a regular reservoir for Y. pseudotuberculosis. Culling of » of the population was sufficient to limit the spread of this infection among the colony. Moreover, no infections were detected in cohabitant nocturnal animals and caretakers, indicating that the zoonotic risk in this case was low.

Canine sterile neutrophilic dermatosis (resembling Sweet's syndrome) with severe extracutaneous manifestations.

INTRODUCTION: Sterile neutrophilic dermatosis is a rare disease in dogs, similar to Sweet's syndrome in humans. This case report describes the treatment of a 2-year old Bearded Collie that was presented with a 3-week history of fever, hind-limb weakness, peripheral lymphadenomegaly and leucocytosis. Blood tests revealed severe leukocytosis, renal azotaemia, elevated liver enzymes and bilirubinaemia. Skin lesions started to appear in week four. Histology revealed a sterile neutrophilic dermatitis resembling Sweet's syndrome. The dog displayed extracutaneous manifestations, including fever, polyarthritis, a severe leukemoid reaction, anaemia, hepatopathy and nephropathy. Issues regarding the use of criteria for the diagnosis of Sweet's syndrome in humans that are used for dogs with sterile neutrophilic dermatosis, are discussed in this case report. The condition resolved with dexamethasone and mycophenolate mofetil as a novel steroid-sparing therapy. Three months later the dog relapsed, which rapidly responded to short-term dexamethasone treatment and temporarily increased mycophenolate mofetil dosage.

INTRODUCTION: La dermatose neutrophilique stérile est une maladie rare chez le chien, semblable au syndrome de Sweet chez l'homme. Ce rapport de cas décrit le traitement d'un Bearded Collie de 2 ans présentant des antécédents de fièvre pendant 3 semaines, une faiblesse des membres postérieurs, une lymphadénomégalie périphérique et une leucocytose. Les analyses de sang ont révélé une leucocytose grave, une azotémie rénale, une élévation des enzymes hépatiques et une bilirubinémie. Des lésions cutanées ont commencé à apparaître à la quatrième semaine. L'histologie a révélé une dermatite neutrophilique stérile ressemblant au syndrome de Sweet. Le chien présentait des manifestations extracutanées telles que fièvre, polyarthrite, réaction leucémoïde sévère, anémie, hépatopathie et néphropathie. Les questions relatives à l'utilisation des critères de diagnostic du syndrome de Sweet chez l'homme chez les chiens atteints de dermatose neutrophilique stérile sont abordées dans le présent rapport de cas. La maladie a été traitée avec la dexaméthasone et le mycophénolate mofétil en tant que thérapie innovante permettant d'économiser des stéroïdes. Trois mois plus tard, le chien a rechuté mais a rapidement répondu à un traitement de courte durée à la dexaméthasone et à une augmentation temporairement la dose de mycophénolate mofétil.

Congenital Cutaneous Panadnexal Papillomatous Hamartomas in a Calf.

Several cauliflower-like alopecic masses arose on the head of an otherwise healthy, full-term newborn Jersey × Belgian blue heifer, which was humanely destroyed shortly after birth due to the severity of the skin lesions. Microscopically, the masses were composed of multiple papillary projections displaying well-differentiated sebaceous glands surrounded by a moderate number of well-developed sweat glands, as well as embryonic and fully developed, but dysplastic hair follicles. Thick branching connective tissue stalks supported these adnexal components. The papillated surface, the predominance of sebaceous glands, the presence of embryonic hair follicles and the well-differentiated sweat glands were compatible with nevus sebaceous, a rare form of cutaneous hamartoma described in man, dogs, cats and cattle. However, the cauliflower-like growth pattern, the presence of supportive thick branching connective tissue stalks and the relative abundance of dysplastic hair follicles in association with nevus sebaceous has not been described in the human or veterinary literature. A diagnosis of panadnexal papillomatous hamartoma was made in this case.

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

We report the analysis of altogether 1050 suspected hereditary breast/ovarian cancer (HBOC) families, 524 fully screened for BRCA1/BRCA2 mutations and 526 tested only for the most common mutations. Of the 119 families with pathogenic mutations, 40 (33.6%) had the BRCA2 c.156_157insAlu rearrangement and 15 (12.6%) the BRCA1 c.3331_3334del mutation, the former being specific of Portuguese ancestry and the latter showing a founder effect in Portugal. Interestingly, the two most common mutations were found in a significant proportion of the HBOC families with an a priori BRCAPRO mutation probability <10%. We recommend that all suspected HBOC families from Portugal or with Portuguese ancestry, even those fulfilling moderately stringent clinical-criteria for genetic testing, should be specifically analyzed for the two most common BRCA1/BRCA2 founder mutations, and we here present a simple method for this first tier test. Screening of the entire coding regions of BRCA1 and BRCA2 should subsequently be offered to those families with a mutation probability ≥10% if none of those founder mutations are found.

Valor nutricional de híbridos de sorgo em diferentes estádios de maturação / Nutritional value of hybrids of sorghum in different maturation stages

Avaliaram-se a composição bromatológica e a digestibilidade in vitro das plantas, folhas, colmos e panículas de três híbridos de sorgo (BRS 610, BR 700 e BRS 655) colhidos em três estádios de maturação (leitoso, pastoso e farináceo). O delineamento utilizado foi o inteiramente casualizado, em arranjo fatorial 3x3 (híbridos x estádios de maturação), sendo as médias comparadas pelo teste SNK (P<0,05). Os teores de matéria seca (MS) das plantas variaram de 25,73% a 43,96% e aumentaram com a maturidade. A concentração de proteína bruta (PB) das plantas manteve-se inalterada (P>0,05) entre as idades de corte para todos os híbridos. Os teores de fibra insolúvel em detergente neutro (FDN) e fibra insolúvel em detergente ácido (FDA) das plantas não foram influenciados pelo estádio de maturação. Os coeficientes de digestibilidade in vitro da MS (DIVMS) das plantas do BRS 610 não variaram com a maturidade, mas para o BR 700 e BRS 655 apresentaram redução entre o estádio leitoso e o farináceo. As variações observadas nas porcentagens de MS, PB, FDN, FDA e DIVMS das frações folha, colmo e panícula ocorreram de forma diferente entre os híbridos com o avanço da maturidade. Os híbridos BR 700 e BRS 655 devem ser ensilados no estádio leitoso, enquanto o BRS 610 pode ser colhido nos três estádios de maturação avaliados.

The nutritional value of the plants, leaves, stems and panicles of three hybrids of sorghum (BRS 610, BR 700 and BRS 655) at three maturation stages (milk, soft dough and flour) were evaluated. A complete randomized design was used in a factorial arrangement 3x3 (hybrids x ages of cut), and the means were compared by SNK (P<0.05). Dry matter contents of the plants varied from 25.73% to 43.96% and increased with maturity. The percentage of crude protein (CP) of the plants remained constant (P>0.05) among cuts for all the hybrids. The values of neutral detergent fiber (NDF) and acid detergent fiber (ADF) of the plants were not affected by maturation stages. The in vitro dry matter digestibility (IVDMD) of the plants of BRS 610 didn't change with maturity, but decreased between milk and floury stages for BR 700 and BRS 655. Differences in the percentages of DM, CP, NDF, ADF and IVDMD of the plant fractions (leaves, steam and panicle) occurred differently among hybrids with the advance of maturity. The hybrids BR 700 and BRS 655 should be ensiled at milk stage, while the BRS 610 can be harvested at the three maturation stages evaluated.

Improving reading comprehension: From metacognitive intervention on strategies to the intervention on working memory executive processes / Mejorando la comprensión lectora: Desde la intervención metacognitiva en estrategias a la intervención en los procesos ejecutivos de la memoria operativa

Many students may read fluently but have difficulties constructing meaning from texts. Difficulties with reading comprehension have many implications at school. In particular, problems understanding texts interfere with studying and learning from text. Reading comprehension has improved in the last 30 years focusing on intervention programs that work with strategies in which metacog-nition plays a crucial role. However, recent years have seen relevant advances in the study of the relationship between working memory (WM), particularly executive processes, and reading comprehension. In this paper, we present how the last 20 years of our research has evolved regarding metacognitive intervention from text comprehension strategies, as the main idea and summarization to the intervention on WM's executive processes during reading. Thus, our more recent empirical data has shown that text comprehension can be improved after specific training on the executive functions of working memory (e.g., focusing, switching, connecting and updating mental representations, and the inhibition of irrelevant information) in Primary school students.

Muchos estudiantes pueden leer de forma fluida pero presentan dificultades para construir significados a partir de los textos. Las dificultades de compresión lectora tienen varias implicaciones en la escuela. En particular, los problemas de comprensión de textos interfieren con el estudio y el aprendizaje desde el texto. La comprensión de lectura se ha mejorado en los últimos 30 años enfocándose en los programas de intervención que trabajan con estrategias en las cuales la metacognición juega un papel crucial. Sin embargo, en años recientes han sido relevantes los avances en el estudio de las relaciones entre la memoria de trabajo (WM), particularmente el proceso ejecutivo, y la comprensión de lectura. En este artículo presentamos la manera como se ha desarrollado nuestra investigación en los últimos 20 años, en relación con intervención metacognitiva desde las estrategias de comprensión de textos, tales como la idea principal y el resumen en la intervención sobre el proceso ejecutivo de WM durante la lectura. Así, nuestros datos empíricos recientes han mostrado que la comprensión de textos puede ser mejorada después del tratamiento específico sobre las funciones ejecutivas de memoria de trabajo (e.g., enfocándose, cambiando, conectando y actualizando las representaciones mentales y la inhibición de información irrelevante) en niños de escuela primaria.

The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families.

The MSH2 c.388_389del mutation has occasionally been described in Lynch families worldwide. At the Portuguese Oncology Institute in Porto, Portugal, we have identified 16 seemingly unrelated families with this germline mutation. To evaluate if this alteration is a founder or a recurrent mutation we performed haplotype analysis in the 16 Portuguese index cases and 55 relatives, as well as in four index cases and 13 relatives reported from Germany, Scotland, England, and Argentina. In the Portuguese families we observed a shared haplotype of approximately 10 Mb and all were originated from the north of Portugal. These results suggest that this alteration is a founder mutation in Portugal with a relatively recent origin. In the reported families outside Portugal with this mutation different haplotype backgrounds were observed, supporting the hypothesis that it occurred de novo on multiple occasions. We also conclude that the high proportion of families with the MSH2 c.388_389del mutation indicates that screening for this alteration as a first step may be cost-effective in the genetic testing of Lynch syndrome suspects of Portuguese ancestry, especially those originating from the north of Portugal.

Estudio normativo de ambigüedad léxica en castellano, en niños y en adultos / No disponible

Se presenta un estudio normativo sobre ambigüedad léxica, en el que seanaliza un corpus de 113 palabras ambiguas en castellano. A partir de lasdefiniciones escritas por los participantes, se reúnen los diferentessignificados de cada palabra aportados tanto por niños como por adultos, asícomo la frecuencia relativa, el grado de dominancia y el orden derecuperación de las distintas acepciones. Además, se recopilan los valores deotros índices de relevancia psicolingüística: longitud de la palabra,frecuencia léxica y familiaridad subjetiva. El interés de los parámetros quese proporcionan se debe, por una parte, a que se extienden a palabrasambiguas no incluidas en otros estudios normativos y, por otra, a queinforma de las acepciones actualmente en uso entre la población infantil yadulta que utiliza el castellano como primera lengua, por lo que tiene unamplio abanico de aplicaciones en la investigación cognitiva y evolutivaactuales(AU)

The interpretation of indicative and subjunctive concessives.

Using a priming paradigm in the context of a reading comprehension task, the possibilities that people keep in mind in order to understand indicative and subjunctive concessive sentences were examined and compared to those from factual and counterfactual 'if A, not-B' conditionals. The length of time it took people to read conjunctive descriptions (i.e., A and B, A and not-B, not-A and B, not-A and not-B) after they had been primed by the different types of linguistic form was measured. The results suggest that, whereas indicative 'even though' concessives and 'if, not' conditionals are understood by keeping in mind just a single possibility ('A and B' and 'A and not-B', respectively), the initial representations of subjunctive 'even if' concessive-conditionals and 'if, not' counterfactuals are compatible with a multiple-model representation. The implications of these results are discussed within the mental models framework.

¿Sigue vigente el by-pass ilio-femoral como tratamiento de las lesiones oclusivas ilíacas extensas unilaterales? / Are vigent the ilio femoral by-pass as treatment of iliacs oclusive unilateral lesions?

INTRODUCCIÓN. Con el desarrollo de las técnicas endovasculares se han visto ampliadas las opciones quirúrgicas para las lesiones oclusivas ilíacas unilaterales, de ahí la necesidad de crear un consenso (TASC) para homogeneizar el tratamiento de las mismas atendiendo al tipo de lesión y características clínicas de los pacientes.OBJETIVO. El objetivo de este trabajo es valorar la utilidad del by-pass ilio-femoral en el momento actual para el tratamiento de las lesiones oclusivas ilíacas unilaterales tipos TASC C y D, mediante el análisis de nuestra experiencia con un seguimiento a largo plazo. PACIENTES Y MÉTODO. Se analizan retrospectivamente 267 by-pass ilio-femorales realizados en nuestro centro, a lo largo de 33 años (1972-2005), estudiando el cuadro clínico, factores de riesgo, antecedentes, tipo y extensión de la lesión y lesiones asociadas así como la técnica quirúrgica realizada y resultados de la misma en cuanto a permeabilidad y morbimortalidad. RESULTADOS. La presentación con un cuadro clínico de gravedad supuso el 65,54%. Hasta un 49,45 % presentaban afectación de todo el eje ilíaco. La permeabilidad al primer año, 5 años y 15 años fue del 93,3%, 81,29% y 76%, respectivamente. La mortalidad supuso un 1,87%, relacionada con 3 casos de IAM, un caso de EAPo y uno de reagudización de EPOC. Las complicaciones supusieron un 9,47%, recogiendo como complicaciones inmediatas 4 casos de trombosis aguda del injerto, 2 de sangrado anastomótico, 5 de infección superficial de herida quirúrgica y 6 de reagudización de patología cardiorrespiratoria. Como complicaciones tardías registramos 9 casos (3,37%): 5 casos de aneurisma anastomótico y 4 de infección protésica. CONCLUSIÓN. Nuestro criterio, actualmente, es que para las lesiones oclusivas ilíacas extensas, en pacientes con bajo riesgo quirúrgico, el by-pass ilio-femoral es una técnica que sigue estando vigente y muestra unos excelentes resultados de permeabilidad a largo plazo, con un bajo índice de complicaciones (AU)

INTRODUCTION. With the development of the endovascular techniques has been extended the surgical options for the unilateral ilío-femoral occlusions disease, of there the necessity to create a consensus (TASC) to homogenizated the treatment of the same ones taking care of the type of injury and clinical characteristics of the patients. OBJECTIVE. The objective of this work is to value the utility of by-pass ilio-femoral at the present moment for the treatment of he ilíacs arteries occlusions injuries unilateral types TASC C and D, by means of the analysis of our experience with a pursuit in the long term. PATIENTS AND METHODS. 267 are analyzed retrospectively by-pass ilio-femoral by-pass made in our center, throughout 33 years (1972-2005), studying the clinical picture, factors of risk, antecedents, type and extension of the injury and associate injuries as well as the surgical technique made and results of same as far as permeability and the morbimortality RESULTS. The presentation with a clinical picture of gravity supposed 65.54%. Until a 49.45% they presented/displayed affectation of all ilíac arteries. The permeability to the first year, 5 years and 15 years was of 93.3%, 81.29% and 76%, respectively. Mortality supposed a 1.87%, related to 3 cases of IAM, a case of EAPo and one of reacutization of EPOC. The complications supposed a 9.47%, gathering like immediate complications 4 cases of acute thrombosis of the graft, 2 of bled anastomotic, 5 of superficial infection of surgical wound and 6 of reacutization of cardiac pathology. As delayed complications we registered 9 cases (3.37%): 5 cases of anastomotic aneurysm and 4 of prosthetic infection. CONCLUSION. Our criterion, at the moment, is that for the extensive ilíacs occlusions lesions, in patients with low surgical risk, by-pass ilio-femoral is a technique that continues being effective and shows excellent results of long term permeability, with a low index of complications (AU)

Genetic diversity and phylogenetic analysis of Feline Coronavirus sequences from Portugal.

The distribution of FCoV Types I and II in a Portuguese cat population was studied by a RT-PCR assay targeting the 3'-end of the viral RNA. For a period of 3 years, 120 samples were collected and 57 were found positive for FCoV RNA. Within the positive samples the presence of FCoV Type I was found in 79%. Type II was only detected in 3.5% in animals with Feline Infectious Peritonitis. The remaining 17.5% could not be differentiated. These viral sequences, comprising a region within gene S were further subjected to a heteroduplex mobility assay (HMA) detecting the presence of viral quasispecies in 17% of the samples. Phylogenetic analysis for FCoV Type I revealed high genetic diversity between the Portuguese sequences and other previously characterized strains, while Type II tree showed a higher genetic homogeneity. This study confirmed the presence of FCoV Types I and II circulating in Portugal and detected high genetic diversity between circulating strains suggesting that the virus persists within the host as mixed viral populations.

Creación de un Hospital de Día en un Centro Sociosanitario / Creation of a Day Hospital in a Social-Health Centre

Dentro del marco de la Atención Continuada al paciente mayor con un alto riesgo de fragilidad y con la intención de interconectar distintos niveles asistenciales, se ofrece un servicio sociosanitario ambulatorio diurno, con el objetivo de dar una atención integral adaptada a los pacientes y a sus familias (AU)

This work presents the creation of an out-patients day social-health service within framework of Continuous Care for elderly patients with a high risk of fragility and with the aim of interconnecting different levels of care, in order to provide all-embracing care adapted to the patients and their families (AU)

MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.

Germline MLH1 and MSH2 mutations are scarce in young colorectal cancer patients with negative family history of the disease. To evaluate the contribution of germline MSH6 mutations to early-onset colorectal cancer, we have analysed peripheral blood of 38 patients diagnosed with this disease before 45 years of age and who presented no family history of hereditary nonpolyposis colorectal cancer-related cancers. Blood samples from 108 healthy volunteers were analysed for those genetic alterations suspected to affect the function of MSH6. Of the seven (18.4%) MSH6 alterations found, we have identified three novel germline mutations, one 8 bp deletion leading to a truncated protein and two missense mutations resulting in the substitution of amino acids belonging to different polarity groups. High-frequency microsatellite instability was found in the patient with the MSH6 deletion, but not in the other 27 carcinomas analysed. No MLH1 promoter methylation was detected in tumour tissue. Our findings suggest that germline MSH6 mutations contribute to a subset of early-onset colorectal cancer. Further studies are warranted to understand the genetic and environmental factors responsible for the variable penetration of MSH6 germline mutations, as well as to identify other causes of early-onset colorectal cancer.

The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys.

Fragile X syndrome is associated with an unstable CGG repeat sequence in the 5' untranslated region of the first exon of the FMR1 gene. The present study involved the evaluation of factors implicated in CGG repeat stability in a normal sample from two Basque valleys (Markina and Arratia), to discover whether the Basque population shows allelic diversity and to identify factors involved, by using the data in conjunction with previous findings. The study was based on a sample of 204 and 58 X chromosomes from the Markina and Arratia valleys, respectively. The CGG repeat, the AGG interspersion and two flanking microsatellite markers, FRAXAC1 and DXS548, were examined. In the Markina valley, gray zone alleles (> or =35 CGG repeats) were associated with anchoring AGGs, with the longest 3' pure CGG repeats of the valley (=15), with the 5' instability structure 9+n and with one principal fragile X FRAXAC1-DXS548 haplotype 42-50. In the Arratia valley, gray zone alleles (> or =35 CGG repeats) showed the highest frequency among the Basque samples analyzed, and were associated with anchoring AGGs, with the longest 3' pure repeats (> or =20), with the 5' instability structure 9+n and with one "normal" FRAXAC1-DXS548 haplotype 38-40 (these data from Arratia suggest the existence of a "protective" haplotype). The results showed, on the one hand, differences between Markina and Arratia in factors implicated in CGG repeat instability and, on the other hand, a great similarity between the general Basque sample from Biscay and the Markina valley.

Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation.

One of the most commonly mutated mismatch repair genes in human nonpolyposis colorectal cancer (HNPCC) is MLH1. We identified a splice site mutation in MLH1 in a colorectal cancer proband (T-to-A at position -11 of intron 1 splice acceptor) and investigated its functional consequences by RT-PCR, using lymphocyte mRNA from the proband, two noncarrying siblings, and one unrelated individual. Subcloning of PCR products followed by sequencing of individual clones revealed increased transcript heterogeneity in the mutation carrier, attributable to the presence of a variety of mRNA forms lacking exon 2, or combinations of exons 2, 4, 6, 9, and 10. The full-length transcript subcloned from the mutation carrier was detected with a much reduced frequency, suggesting that only the wild-type allele produced functional MLH1 mRNA. The three noncarriers expressed some previously described transcripts and several novel variants, but none that lacked exon 2. The results are consistent with the hypothesis that this splice site mutation causes skipping of MLH1 exon 2 in a large proportion of mRNA transcripts derived from the mutated allele. Such an observation strengthens the case for identifying the mutation as pathogenic in this HNPCC family, which is of interest given the rarity of exon skipping defects resulting from splice acceptor site mutations outside the invariant AG dinucleotide.