Search results for "familia."

Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A syste…

2017

Statin therapy is beneficial in reducing LDL cholesterol (LDL-C) levels and cardiovascular events, but it is associated with the risk of incident diabetes mellitus (DM). Familial hypercholesterolemia (FH) is characterized by genetically determined high levels of plasma LDL-C and a low prevalence of DM. LDL-C levels seem then inversely correlated with prevalence of DM. Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2). This review explores the hypothesis that FHBL might represent also the genetic mirror of FH in terms of prevalence of DM and that it is expecte…

Molecular profiling of pancreatic neuroendocrine tumors (pNETS) and the clinical potential

2018

Abstract: Introduction: Pancreatic neuroendocrine tumors (pNETs) represent a small part of pancreatic neoplasms, and the knowledge about their indolent clinical course remains a subject of investigation. They occur sporadically or as part of familial cancer syndromes and are classified by WHO in 3 categories. There is ongoing research to understand their molecular profiling and leading mutations.Areas covered: The aim of this review is to clarify the overall aspects of tumorigenesis, to expose the latest developments in understanding the course of the disease and the possible therapeutic implications of these. The review also discusses functional and non-functional pNETs and associated inhe…

2020

We have identified a clinical association between self-reported non-celiac wheat sensitivity (NCWS) and Familial Mediterranean Fever (FMF). Objectives: A) To determine whether a 2-week double-blind placebo-controlled (DBPC) cross-over wheat vs. rice challenge exacerbates the clinical manifestations of FMF; B) to evaluate innate immune responses in NCWS/FMF patients challenged with wheat vs. rice. The study was conducted at the Department of Internal Medicine of the University Hospital of Palermo and the Hospital of Sciacca, Italy. Six female volunteers with FMF/NCWS (mean age 36 ± 6 years) were enrolled, 12 age-matched non-FMF, NCWS females, and 8 sex- and age-matched healthy subjects serve…

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A S…

2020

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05…

De Novo Genome Assembly of the Raccoon Dog (Nyctereutes Procyonoides)

2021

The raccoon dog, Nyctereutes procyonoides (NCBI Taxonomy ID: 34880, Figure 1a) belongs to the family Canidae, with foxes (genus Vulpes) being their closest relatives (Lindblad-Toh et al., 2005; Sun et al., 2019). Its original distribution in East Asia ranges from south-eastern Siberia to northern Vietnam and the Japanese islands. In the early 20th century, the raccoon dog was introduced into Western Russia for fur breeding and hunting purposes, which led to its widespread establishment in many European countries, Figure 1b. Together with the raccoon (Procyon lotor), it is now listed in Europe as an invasive species of Union concern (Regulation (EU) No. 1143/2014) and member states are requi…

La inclusión laboral de las personas con discapacidad desde la administración pública responsable en la Comunidad Valenciana

2020

En la presente coyuntura socioeconómica, la posibilidad de inclusión a través del empleo de las personas con discapacidad es importante no solo por las posibilidades de autonomía económica, sino también por las oportunidades de socialización. Sobre esta base, y considerando que las empresas socialmente responsables asumen la inclusión de estas personas en sus plantillas como una posibilidad de crecimiento y de diferenciación, en el texto se analiza, de manera descriptiva, el papel que las administraciones públicas (AA. PP.) autonómicas, con competencias en la materia, pueden, deben y están haciendo para fomentar la responsabilidad social corporativa (RSC) y la gestión de la inclusión labora…

As dimensões do bem-estar das crianças que vivem em Buenos Aires

2017

This paper presents the concept of Well-being, defined as the cognitive and affective evaluation that a person makes of his/her own life. The interest is centered in understanding what makes them happy and what generates well-being among boys and girls. In order to do so, different areas of children’s lives were accessed, trying to encompass the social, cultural and political dimensions of Well-being. Qualitative method was used, giving the children a protagonist role. Two groups of boys and girls between 8 and 12 years old participated, living in Buenos Aires, Argentina. The group technique was used, we gave voice to the children and focused on the following topics: significant people in t…

Lectura, escritura de mujeres y transmisión familiar en Lengua madre, de María Teresa Andruetto. Aprender de (pos)memoria

2019

Why continued lipoprotein apheresis is vital for homozygous familial hypercholesterolemia patients with COVID-19

2021

Educatio siglo XXI : revista de la Facultad de Educación

2015

La presencialidad obligatoria en Educación Superior y el creciente número de estudiantes con compromisos familiares justifican la necesidad de conocer las opiniones del alumnado con respecto a la conciliación estudiantil-familiar en el contexto universitario. Se adopta una metodología cualitativa mediante narrativas. Participan de la investigación 27 estudiantes de la Universitat de València y 46 de la Universidad de Alicante, del Grado en Maestro de Educación Primaria. Los resultados evidencian limitaciones, dificultades y demandas ante las nuevas exigencias metodológicas y evaluativas, si se tienen cargas familiares. Se concluye con propuestas académicas, legislativas y de implementación …