Search results for " Digestive System"
showing 10 items of 125 documents
Registro y seguimiento clínico de pacientes con síndrome de Peutz Jeghers en Valencia
2020
Resumen: Introducción y objetivos: El síndrome de Peutz Jeghers (SPJ) es una enfermedad rara con herencia autosómica dominante, causada por una mutación germinal del gen STK11/LKB1, localizado en el cromosoma 19p13.3, que consiste en hiperpigmentación mucocutánea, poliposis hamartomatosa y predisposición al cáncer. Se pretende identificar y registrar a los pacientes con SPJ, hacer una descripción de la enfermedad y estimar la prevalencia en Valencia (España). Materiales y métodos: Se obtuvo un listado de historias clínicas en 10 hospitales, utilizando el conjunto mínimo de base de datos de ingresos hospitalarios del Ministerio de Sanidad y Consumo de España utilizando el código CIE-9 759.6.…
Germ-free housing conditions do not affect aortic root and aortic arch lesion size of late atherosclerotic low-density lipoprotein receptor-deficient…
2020
The microbiota has been linked to the development of atherosclerosis, but the functional impact of these resident bacteria on the lesion size and cellular composition of atherosclerotic plaques in the aorta has never been experimentally addressed with the germ-free low-density lipoprotein receptor-deficient (Ldlr(-/-)) mouse atherosclerosis model. Here, we report that 16 weeks of high-fat diet (HFD) feeding of hypercholesterolemicLdlr(-/-)mice at germ-free (GF) housing conditions did not impact relative aortic root plaque size, macrophage content, and necrotic core area. Likewise, we did not find changes in the relative aortic arch lesion size. However, late atherosclerotic GFLdlr(-/-)mice …
Integrative Genome-Scale DNA Methylation Analysis of a Large and Unselected Cohort Reveals 5 Distinct Subtypes of Colorectal Adenocarcinomas
2019
BACKGROUND & AIMS: Colorectal cancer is an epigenetically heterogeneous disease, however, the extent and spectrum of the CpG island methylator phenotype (CIMP) is not clear. METHODS: Genome-scale methylation and transcript expression were measured by DNA Methylation and RNA expression microarray in 216 unselected colorectal cancers, and findings were validated using The Cancer Genome Atlas 450K and RNA sequencing data. Mutations in epigenetic regulators were assessed using CIMP-subtyped Cancer Genome Atlas exomes. RESULTS: CIMP-high cancers dichotomized into CIMP-H1 and CIMP-H2 based on methylation profile. KRAS mutation was associated significantly with CIMP-H2 cancers, but not CIMP-H1 can…
Infant gut microbiota modulation by human milk disaccharides in humanized microbiome mice
2021
Human milk glycans present a unique diversity of structures that suggest different mechanisms by which they may affect the infant microbiome development. A humanized mouse model generated by infant fecal transplantation was utilized here to evaluate the impact of fucosyl-α1,3-GlcNAc (3FN), fucosyl-α1,6-GlcNAc, lacto-N-biose (LNB) and galacto-N-biose on the fecal microbiota and host–microbiota interactions. 16S rRNA amplicon sequencing showed that certain bacterial genera significantly increased (Ruminococcus and Oscillospira) or decreased (Eubacterium and Clostridium) in all disaccharide-supplemented groups. Interestingly, cluster analysis differentiates the consumption of fucosyl-oligosacc…
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report.
2020
Abstract Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biop…
Great Expectations: Principal Investigator and Trainee Perspectives on Hiring, Supervision, and Mentoring
2018
A functioning mentor–trainee relationship is of high importance in academia. Discrepancies in expectations between principal investigators (PIs) and trainees are a source of misunderstandings and conflicts, endangering scientific progress and career advancement. In this pilot study, we sought to explore the expectations of PIs and trainees, providing consensus data from physician‐scientists and junior researchers who attended an educational workshop, entitled “The EASL/AASLD Masterclass,” in December 2017. Twenty‐three Masterclass attendees, comprising nine trainees (four Ph.D. candidates, five postdoctoral researchers) and 14 PIs, responded to an online survey. Both parties were asked to s…
The Role of Laboratory Tests in Crohn's Disease.
2016
In the past, laboratory tests were considered of limited value in Crohn's disease (CD). In the era of biologics, laboratory tests have become essential to evaluate the inflammatory burden of the disease (C-reactive protein, fecal calprotectin) since symptoms-based scores are subjective, to predict the response to pharmacological options and the risk of relapse, to discriminate CD from ulcerative colitis, to select candidates to anti-tumor necrosis factors [screening tests looking for hepatitis B virus and hepatitis C virus status and latent tuberculosis], to assess the risk of adverse events (testing for thiopurine metabolites and thiopurine-methyltransferase activity), and to personalize a…
About human taeniasis and Taenia saginata diagnosis by endoscopy
2016
La carta al editor se refiere al articulo de Canaval-Zuleta et al. aceptado para publicacion, titulado "Endoscopy as an alternative diagnostic and therapeutic technique for Taenia saginata". El trabajo presenta una serie de incorrecciones que deben ser aclaradas, o al menos parte de ellas en solo 300 palabras. La informacion sobre las vias de infeccion en taeniasis, asi como la patogenia y tecnicas de diagnostico, no se ajustan a la realidad. Asimismo, ya esta publicado que el diagnostico por endoscopia es una tecnica muy sensible pero nada especifica, pues no permite distinguir entre las 3 especies humanas del genero Taenia.
Elderly Onset Celiac Disease: A Narrative Review.
2016
Celiac sprue is a chronic disease, which usually occurs in children and young adults. However, it can develop in any age group, and the prevalence is increasing even in the elderly population. The atypical patterns of clinical presentation in this age group sometimes can cause a delay in diagnosis. Given the lower sensitivity and specificity of serological tests in the aged population, clinical suspect often arises in the presence of complications (autoimmune disorders, fractures, and finally, malignancy) and must be supported by endoscopic and imaging tools. In this review, we highlight the incidence and prevalence of celiac disease in the elderly, the patterns of clinical presentation, d…
Neutrophil to Lymphocyte Ratio as a Predictor of Poor Prognosis in Metastatic Pancreatic Cancer Patients Treated with Nab-Paclitaxel plus Gemcitabine…
2018
Background. High neutrophil to lymphocyte ratio (NLR) has shown to be a predictor of poor outcomes in various malignancies, including pancreatic cancer. Methods. We assessed 70 consecutive pts with histologically confirmed mPC who received chemotherapy with nab-paclitaxel/gemcitabine at two different European oncologic centers between January 2012 and November 2015. Variables assessed for prognostic correlations included age ≥ 66, sex, Karnofsky PS score, primary tumor site, baseline CA19.9 level ≥ 59xULN, 12-week decrease of the CA19.9 level ≥ 50% from baseline, basal bilirubin level, baseline NLR, biliary stent implantation, and liver metastasis. Survival analyses were generated according…