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Current status of the genetic susceptibility in attenuated adenomatous polyposis

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World Journal of Gastrointestinal oncology 2019年第12期11卷 1101-1114页

作者： Víctor Lorca Pilar Garre Laboratorio de oncología Molecular Grupo de Investigación Clínica y Traslacional en OncologíaHospital Clínico San CarlosMadrid 28040Spain Laboratorio de oncología Molecular Servicio de OncologíaHospital Clínico San CarlosMadrid 28040Spain

Adenomatous polyposis(AP)is classified according to cumulative adenoma number in classical AP(CAP)and attenuated AP(AAP).Genetic susceptibility is the major risk factor in CAP due to mutations in the known high predisposition genes APC and MUTYH.However,the contribution of genetic susceptibility to AAP is lower and less understood.New predisposition genes have been recently proposed,and some of them have been validated,but their scarcity hinders accurate risk estimations and prevalence calculations.AAP is a heterogeneous condition in terms of severity,clinical features and heritability.Therefore,clinicians do not have strong discriminating criteria for the recommendation of the genetic study of known predisposition genes,and the detection rate is low.Elucidation and knowledge of new AAP high predisposition genes are of great importance to offer accurate genetic counseling to the patient and family members.This review aims to update the genetic knowledge of AAP,and to expound the difficulties involved in the genetic analysis of a highly heterogeneous condition such as AAP.

关键词： Attenuated adenomatous polyposis Genetic susceptibility High predisposition gene Genetic heterogeneity Colorectal cancer

Cardiovascular prevention in elderly patients

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Journal of Geriatric Cardiology 2022年第5期19卷 377-392页

作者： Clara Bonanad Rosa Fernández-Olmo Sergio García-Blas Jose Antonio Alarcon Pablo Díez-Villanueva Carmen Rus Mansilla Héctor García-Pardo Pablo Toledo Ana Ayesta Eva Pereira Antoni Carol Almudena Castro-Conde Carmen de Pablo-Zarzoso Manuel Martínez-Sellés Vicente Arrarte Raquel Campuzano Albert Ariza-Solé servicio de Cardiología Hospital Clínico Universitario de ValenciaValenciaSpain Instituto de Investigación Sanitaria INCLIVA ValenciaSpain servicio Cardiología Hospital Universitario de Jaén Spain servicio Cardiología Hospital de Donosti Spain servicio de Cardiología Hospital Universitario La Princesa de MadridSpain servicio de Cardiología Hospital Alto Gudalquivir de AndújarJaénSpain servicio de Cardiología Hospital Rio Hortega de ValladolidSpain servicio Cardiología Hospital Clínico San Cecilio de Granada Spain servicio de Cardiología Hospital Universitario Central de AsturiasSpain servicio de Cardiologia Hospital de LugoSpain servicio de Cardiología Hospital Moisés Broggi de BarcelonaSpain servicio de Cardiología Hospital Universitario de la Paz de Madrid Spain servicio de Cardiología Hospital Ramón y Cajal de MadridSpain department of Cardiology.Hospital Universitario Gregorio Marañón CIBERCV.Universidad EuropeaUniversidad Compluten servicio de Cardiología del Hospital General de Alicante Spain servicio de Cardiología Hospital Universitario Fundación de Alcorcón de MadridSpain servicio de Cardiología Hospital Bellvitge de BarcelonaBioheartGrup de Malalties CardiovascularsInstitut d’InvestigacióBiomèdica de BellvitgeIDIBELLL’Hospitalet de LlobregatBarcelonaSpain

In recent decades,life expectancy has been increasing significantly.In this scenario,health interventions are ne-cessary to improve prognosis and quality of life of elderly with cardiovascular risk factors and cardiovascular disease.However,the number of elderly patients included in clinical trials is low,thus current clinical practice guidelines do not include specific re-commendations.This document aims to review prevention recommendations focused in patients≥75 years with high or very high cardiovascular risk,regarding objectives,medical treatment options and also including physical exercise and their inclusion in cardiac rehabilitation programs.Also,we will show why geriatric syndromes such as frailty,dependence,cognitive impair-ment,and nutritional status,as well as comorbidities,ought to be considered in this population regarding their important pro-gnostic impact.

关键词： prevention patients cardiovascular

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain

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World Journal of Gastroenterology 2005年第37期11卷 5770-5776页

作者： Ana Sánchez de Abajo Miguel de la Hoya Alicia Tosar Javier Godino Juan Manuel Fernández Jose Lopez Asenjo Beatriz Perez Villamil Pedro Perez Segura Eduardo Diaz-Rubio Trinidad Caldes Laboratorio de oncología Molecular Hospital Clinico San Carlos Madrid Spain servicio de Anatomía Patológica Hospital Clinico San Carlos Madrid Spain servicio de oncología Médica Hospital Clinico San Carlos Madrid Spain

AIM: To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2.METHODS: We used PCR-based DGGE assay and direct Sequencing to screen for hMSH6 gene in 91 HNPCC families.RESULTS: we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one nonsense mutation, and four silent mutations. Among the 10 germ-line mutations identified in the Spanish cohort,8 were novel, perhaps, suggesting different mutational spectra in the Spanish population. detailed pedigrees were constructed for the three families with a possible pathogenic hMSH6 mutation. The two silent mutations H388H and L758L, detected in a person affected of colorectal cancer at age 29, produce loss of the wild-type allele in the tumor sample. Immunohistochemical analysis showed that expression of MSH6 protein was lost only in the tumors from the carriers of V878A and Q263X mutations.CONCLUSION: Altogether, our results indicate that disease-causing germ-line mutations of hMSH6 are very less frequent in Spanish HNPCC families.

关键词：基因突变 hMSH6 结肠癌直肠癌西班牙遗传因素

Effectiveness of sacubitril-varsartan versus angiotensin converting enzyme inhibitors in patients hospitalized for acute heart failure:a retrospective cohort study of the RICA registry

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Journal of Geriatric Cardiology 2022年第11期19卷 802-810页

作者： Llanos Soler-Rangel Manuel Méndez-Bailón JoséPérez-Silvestre JoséMaría Fernández-Rodríguez Beatriz Cuesta García Adrián Argüelles-Curto Álvaro González-Franco Alicia Conde-Martel Sara Carrascosa-García Marta Sánchez-Marteles JoséManuel Cerqueiro-González Noel Lorenzo-Villalba Manuel Montero-Pérez-Barquero Llanos Soler-Rangel Servicio de Medicina InternaHospital Universitario Infanta SofíaFIIB HUIS HHENMadridSpain servicio de Medicina Interna Hospital Clínico San CarlosInstituto de Investigación San Carlos(IdISSC)Spain servicio de Medicina Interna Consorcio Hospital General Universitario de ValenciaSpain servicio de Medicina Interna Hospital Carmen y Severo OchoaCangas del NarceaAsturiasSpain servicio de Medicina Interna Hospital Universitario Central de AsturiasOviedoSpain servicio de Medicina Interna Hospital Universitario de Gran Canaria Dr NegrínSpain servicio de Medicina Interna Hospital Clínico Universitario Lozano Blesa de ZaragozaZaragozaSpain Hospital Universitario Lucus Augusti de Lugo LugoSpain Service de Médecine Interne Diabète et Maladies MétaboliquesHôpitaux Universitaires de StrasbourgFrance servicio de Medicina Interna IMIBIC/Hospital Universitario Reina SofíaCórdobaSpain

BACKGROUND Sacubitril-valsartan has been shown to reduce hospitalizations and mortality in patients with heart failure(HF)and reduced ejection fraction.The PIONEER-HF trial demonstrated that initiation of the drug during acute HF hospitalization reduced NT-proBNP levels and a post-hoc analysis of the trial found a reduction in HF hospitalizations and deaths.Real-life studies in the elderly population are scarce.The aim of our study was to assess the effectiveness of sacubitril-valsartan versus angiotensin converting enzyme inhibitors(ACEI)in elderly patients who initiate this treatment during hospitalization for acute HF.METHODS We conducted a retrospective cohort study using the Spanish acute heart failure registry(RICA)comparing rehospitalizations and deaths at 3 months and 1 year among patients aged 70 years or older who had initiated treatment with sacubitrilvalsartan during hospitalization for acute HF versus those treated with ACEI.RESULTS One hundred and ninety-nine patients hospitalized between October 2016 and November 2020 were included,with a median age of 82 years and high rate of comorbidity.Of these,107 were treated with sacubitril-valsartan and 92 with ACEI.The adjusted OR for readmission for HF at 3 months was 0.906(95%CI:0.241-3.404)and for the combined variable readmission for HF or death at 3 months was 0.696(95%CI:0.224-2.167).The adjusted OR for HF readmission at one year was 0.696(95%CI:0.224-2.167).and for the combined variable HF readmission or death at one year 0.724(95%CI:0.325-1.612).CONCLUSION Treatment with sacubitril-valsartan initiated early in hospitalization for HF in elderly patients with high comorbidity was associated with a trend towards a reduction in readmissions and death due to HF compared to treatment with ACEI,which did not reach statistical significance either at 3 months or 1 year of follow-up.

关键词： patients initiated admission

Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)gene.However,the molecular mechanisms underlying HO remain poorly understood.As a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

Coagulase Negative Staphylococcus Causes Catheter Associated Bacteriemia in a Patient with Esophagus Adenocarcinome

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Journal of Cancer Therapy 2012年第5期3卷 627-629页

作者： A. Copca-álvarez M. A. Cabrera-Suarez G. Pulido-Reyes J. Alcoba-Florez M. Morales S. Mendez-Alvarez servicio de Medicina Interna servicio de Microbiología Hospital U. Ntra. Sra. de Candelaria Santa Cruz de Tenerife 38010 Spain servicio de oncología Médica Unidad de Investigación

We report a case of a man suffering esophagus adenocarcinome who acquired catheter associated bacteriemia caused by a coagulase negative Staphylococcus. This CoNS was sensible to linezolid, teicoplanine, vancomycin and rifampicin. This information was relevant for antibiotherapy planning. The patient was successfully treated with teicoplanin together with the catheter exchange. In conclusion, infections should be treated with adequate doses and duration of antibiotics together with catheter exchange. Pre-emptive measurements in the cancer patient and establishing the most adequate treatment are imperative for obtaining good results.

关键词： Coagulase Negative Staphylococcus Catheter Bacteriemia Teicoplanin Esophagus Adenocarcinome

Thrombin activation and liver inflammation in advanced hepatitis C virus infection

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World Journal of Gastroenterology 2016年第18期22卷 4427-4437页

作者： Emilio González-Reimers Geraldine Quintero-Platt Candelaria Martín-González Onán Pérez-Hernández Lucía Romero-Acevedo Francisco Santolaria-Fernández servicio de Medicina Interna Hospital Universitario de Canarias Universidad de La Laguna

Hepatitis C virus(HCV) infection is associated with increased thrombotic risk. Several mechanisms are involved including direct endothelial damage by the HCV virus, with activation of tissue factor, altered fibrinolysis and increased platelet aggregation and activation. In advanced stages, chronic HCV infection may evolve to liver cirrhosis, a condition in which alterations in the portal microcirculation may also ultimately lead to thrombin activation, platelet aggregation, and clot formation. Therefore in advanced HCV liver disease there is an increased prevalence of thrombotic phenomena in portal vein radicles. Increased thrombin formation may activate hepatic stellate cells and promote liver fibrosis. In addition, ischemic changes derived from vascular occlusion by microthrombi favor the so called parenchymal extinction, a process that promotes collapse of hepatocytes and the formation of gross fibrous tracts. These reasons may explain why advanced HCV infection may evolve more rapidly to end-stage liver disease than other forms of cirrhosis.

关键词： Coagulation Liver cirrhosis Hepatitis C virus Fibrogenesis Parenchymal extinction Portal thrombosis

Full-term pregnancy in breast cancer survivor with fertility preservation: A case report and review of literature

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World Journal of Clinical Cases 2019年第1期7卷 58-68页

作者： Marta Garrido-Marín Pedro Maria Argacha Luís Fernández Florencia Molfino Fina Martínez-Soler Avelina Tortosa Pepita Gimenez-Bonafé department of Physiological Sciences Physiology Unit Faculty of Medicine and Health Sciences Bellvitge Campus Universitat de BarcelonaIDIBELL L’Hospitalet del Llobregat Hospital Universitari General de Catalunya servicio de oncología Médica Consorcio Corporación Sanitaria Parc Taulí Instituto de Reproducción Cefer department of Basic Nursing Faculty of Medicine and Health Sciences Universitat de Barcelona IDIBELL L’Hospitalet del Llobregat

A 43-year-old woman with an associated history of gynecological pathology and breast cancer with only one cryopreserved embryo wished to be a mother.Several factors that influenced the success of the pregnancy in this case were analyzed. Favorable factors included: triple positive breast cancer [positive hormone receptors and positive human epidermal growth factor receptor 2],which is more hormosensitive and chemosensitive; absence of metastasis; correct endometrium preparation; and the patient's optimistic attitude and strict health habits. In contrast, the factors against success were: breast cancer; adjuvant breast cancer therapy gonadotoxicity; the age of the patient(> 40-year-old);endometriosis; ovarian cyst; hydrosalpinx; submucosal fibroids and the respective associated surgery done for the above-mentioned pathology(all resolved prior to the embryo transfer); and a low quantity of ovules(low ovarian reserve) after ovarian stimulation. This is a very special clinical case of a patient with theoretically low pregnancy success probability due to the consecutive accumulation of gynecological and oncological pathologies, who nonetheless became pregnant and delivered a full-term infant and was able to provide adequate breastfeeding.

关键词： Breast cancer Fertility preservation Gonadotoxicity Pregnancy In vitro fertilization Hydrosalpinx Endometriosis Case report

Final Results of a Phase II Study of Bevacizumab, Cisplatin and Pemetrexed as First-Line Therapy for Patients with Advanced Non-Squamous Non-Small Cell Lung Cancer

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Journal of Cancer Therapy 2016年第7期7卷 455-463页

作者： Guillermo López Vivanco Eider Azkona Sergio Carrera Aintzane Sancho Itziar Rubio Juan Manuel Mañé Begoña Calvo Unai Aresti Aitziber Buque Inés Marrodán Alberto Muñoz servicio de oncología Médica Hospital de Cruces Bilbao Spain

Background: Efficacy and safety data for cisplatin and pemetrexed plus bevacizumabinnon squamousnon non-small cell lung cancer (NSCLC) are still limited. Nevertheless, either bevacizumab plus platinum doublet or pemetrexed plus platinum is approved options for first line therapy. Predictive factors for bevacizumab are needed. KRAS is one of the most common oncogenic drivers in lung cancer. Its prognostic and predictive value in NSCLC is under investigation. Patients and methods: This trial evaluates the addition of bevacizumab 7.5 mg/kg to cisplatin 75 mg/m2 plus pemetrexed 500 mg/m2 as first line treatment in stage IV non-squamous NSCLC patients. Maintenance bevacizumab was received as monotherapy until progressive disease, unacceptable toxicityor consent with drawal. The primary objective was progression free survival (PFS). Secondary objectives included overall survival (OS), safety, global objective responses and the determination of KRAS mutation at baseline. Results: From March 2009 to March 2012, 31 patients were enrolled. Mean age was 59.19 (standard deviation (SD) 8.53). From all the patients included in this trial, 67.70% were men. KRAS was wild type in 19 patients (58.06%);in 7 (22.58%) was mutated and was unknown in 6 patients (19.35%). Median PFS for KRAS mutated patients was 4 months, whereas for the KRAS wild type it was 7.9 months (P = 0.0031). Median OS was 4 months for the KRAS population, and 16.1 months for the KRAS wild type (P = 0.0032). Twenty four patients (77.42%) experienced at least a grade 3 - 4 adverse event. The most common grade 3 - 4 toxicity was asthenia. Conclusions: Both PFS and OS were statistically longer for the KRAS wild type patients compared with the KRAS mutated population (P = 0.0031). Median OS was shorter than the reported in previous trials with bevacizumab. Nevertheless, focussing on the OS for KRAS wild type patients, this achieves a result or 16.1 months. Therefore, this would be a consistent data supporting to qualify this parameter as a pred

关键词： Non-Small-Cell Lung Cancer Bevacizumab Pemetrexed Predictive Biomarker KRAS