Gastrointestinal Manifestations and Treatment Options in Fabry Disease Patients. A Systematic Review.

BACKGROUND AND AIMS: Fabry disease (FD) is a rare chronic genetic disorder that presents under a paucity of symptoms. Gastrointestinal (GI) involvement is a common event and can sometimes be debilitating, but relatively often it is overlooked. We aimed to provide a systematic review of main GI symptoms in FD patients and treatment possibilities. METHODS: We completed a systematic review of literature, using the MeSH terms: "Fabry disease", "gastrointestinal", "gastrointestinal", "digestive", "manifestations", "symptoms", "clinical", "treatment", "therapy" and the supplementary concepts "enzyme replacement", "chaperone", "Migalastat", in different combinations, with defined inclusion and exclusion criteria. RESULTS: From 221 initial studies identified, through our selection process we included a final date base of 51 articles on GI signs and symptoms and their treatment. The primary GI manifestations of the disease consist of abdominal pain, bowel movement disorders or nausea and vomiting. Less frequent manifestations such as diverticular bowel disease, gastroesophageal reflux or achalasia have also been described. Main treatment options in FD are represented by enzyme replacement therapy and chaperone treatment. Patients presenting with GI symptoms unfortunately do not always respond to enzyme replacement, necessitating symptomatic relief. CONCLUSION: Fabry disease is a rare disease that often involves the GI tract, affecting patients' quality of life and burdening the healthcare system. Physicians must be aware of the multitude of manifestations in this category of patients, to promptly recognize and treat them.

Transforming growth factor ß-mediated micromechanics modulates disease progression in primary myelofibrosis.

Primary myelofibrosis (PMF) is a Ph-negative myeloproliferative neoplasm (MPN), characterized by advanced bone marrow fibrosis and extramedullary haematopoiesis. The bone marrow fibrosis results from excessive proliferation of fibroblasts that are influenced by several cytokines in the microenvironment, of which transforming growth factor-ß (TGF-ß) is the most important. Micromechanics related to the niche has not yet been elucidated. In this study, we hypothesized that mechanical stress modulates TGF-ß signalling leading to further activation and subsequent proliferation and invasion of bone marrow fibroblasts, thus showing the important role of micromechanics in the development and progression of PMF, both in the bone marrow and in extramedullary sites. Using three PMF-derived fibroblast cell lines and transforming growth factor-ß receptor (TGFBR) 1 and 2 knock-down PMF-derived fibroblasts, we showed that mechanical stress does stimulate the collagen synthesis by the fibroblasts in patients with myelofibrosis, through the TGFBR1, which however seems to be activated through alternative pathways, other than TGFBR2.

Calidad de vida en personas jubiladas que estudian en la Universidad del País Vasco / Quality of Life in Retired Persons Studying at University of the Basque Country

RESUMEN Introducción: Los factores más importantes para tener una calidad de vida adecuada son la salud física, la salud psicológica, las relaciones sociales y el entorno, que varían según las actividades que las personas realicen diariamente. Aunque los índices de esperanza de vida se han incrementado en la actualidad, persisten hábitos y conductas que afectan el óptimo rendimiento humano. Objetivo: Evaluar la repercusión de la universidad en la buena calidad de vida de las personas jubiladas. Métodos: Se realizó un estudio descriptivo, de prevalencia y transversal. Se midieron cuatro dominios con el WHOQOL-BREF en 54 estudiantes jubilados mayores de 55 años, en las aulas de la experiencia de la Universidad del País Vasco. Resultados: Los resultados mostraron que las personas jubiladas que asistían a la universidad para adultos mayores tenían una buena calidad de vida en general. Conclusiones: Este estudio demostró que la universidad para personas jubiladas constituye una experiencia que mantiene la salud física y psicológica, y las relaciones sociales y con el medio ambiente.

ABSTRACT Introduction: The most important factors to have adequate quality of life are physical health, psychological health, social relationships and the environment, which vary according to the activities that people do daily. Although life expectancy rates have increased today, habits and behaviors that affect optimal human performance persist. Objective: To assess the impact of the university on the good quality of life of retired people. Methods: A descriptive, prevalence and cross-sectional study was carried out. Four domains were measured using WHOQOL-BREF in 54 retired students aged over 55, in the classrooms of experience of University of the Basque Country. Results: The results showed that retired people who attended the college for older adults generally had good quality of life. Conclusions: This study showed that the university for retired people constitutes an experience that maintains physical and psychological health, and social and environmental relations.

[Reticulate polymers used in obtaining new dental materials]. / Polimeri reticulati acrilici utilizati pentru obtinerea de noi materiale dentare.

UNLABELLED: This paper seeks the characterization of new polymers acrylic cross-linked structure, prepared in the presence of a template that creates the polymer synthesized the property of saving template form. MATERIAL AND METHOD: For carrying out synthesis of polymers reticulate-based on dimethacrylate monomer was left to the mono-, di-and trietilenglicol dimethacrylate. Cross-linked polymerization reaction was initiated with benzoyl peroxide. RESULTS: New structures are obtained witch respond to the need to diversify and improve the biomaterials used in dentistry. The materials are chemically thermally and mechanically inert. Reticulate polymers are non-biodegradable and therefore do not produce intoxication and not degrade biological fluids.

Cardiac peptides during exercise test in ischemic and non-ischemic heart failure patients.

BACKGROUND: Cardiac peptides are increased at rest in heart failure patients representing a useful diagnostic tool for this condition. Recently it has been demonstrated that cardiac peptides increase also during myocardial ischemia. Cardiac peptides increase during exercise in heart failure patients, but it has not been established yet if the increase is the same in ischemic and nonischemic patients. METHODS: There were studied 50 heart failure patients, 32 ischemic and 18 nonischemic, 35 males and 15 females aged 61.8 +/- 11.61 after the relief of congestive syndrome, which was submitted to a symptom-limited exercise stress test on a cycloergometer. Blood samples were obtained at rest and at a peak effort and the plasmatic values of NT-proBNP (NV<250 fmoles/mL) and of NT-proANP (NV<1950 fmoles/mL) were determined using the ELISA method. RESULTS: At rest, both NT-proBNP and NT-proANP were more increased in nonischemic (1104.33 +/- 730; 3275.55 +/- 3424) than in ischemic patients (685.68 +/- 452.01, 2265.0 +/- 2552.32) with significant differences only for NT-proBNP (p=0.016). During exercise NT-proBNP increase from 836.40 +/- 596.34 to 1403.92 +/- 2126.21 and NT-proANP from 2628.80 +/- 2903.41 to 3701.30 +/- 3237.76, the final values being again more increased in nonischemic patients (NT-proBNP-2945.44 +/- 3257.89; NT-proANP-3174 +/- 2905); for NT-proBNP p<0.05. The results suggest that the stretching effect during exercise is more increased at the ventricular level in comparison with the atrial level (67% increase for NT-proBNP and only 40% for NT-proANP). Surprisingly, myocardial ischemia does not increase additionally cardiac peptides either at rest or during exercise. Our data suggest that the intracardiac pressure is more important than ischemia in determining the increase of cardiac peptides in heart failure patients because the left ventricular ejection fraction was lower in nonischemic patients (40.03 +/- 5.5 vs 38.11 +/- 4.07). CONCLUSION: Cardiac peptides are increased, both at rest and during exercise, in nonischemic heart failure patients in comparison with ischemic ones, probably in relationship with the lower left ventricular systolic function.

Recovery of gangliosides from aqueous solutions on styrene-divinylbenzene copolymer columns.

An investigation was made using a styrene-divinylbenzene copolymer as a solid phase sorbent to recover gangliosides from aqueous solutions. A comparison with octadecyl-bonded (C18) silica gel showed that the general procedure used to purify gangliosides on C18 silica gel could be used with the copolymer. The yield of gangliosides depended on various parameters such as the composition of the conditioning solution, the salt concentration of the loading solution, and the amount of applied gangliosides per gram of copolymer. In optimal conditions, the recovery of gangliosides and other lipids present in the upper phases of partition was higher than 95%. Using radiolabeled gangliosides, it was found that gangliosides present in serum-containing medium could also be quantitatively recovered on copolymer, provided the medium was diluted with an equal volume of methanol prior to its application onto the column. The major advantage of the copolymer is its high stability in acidic or alkaline conditions that allows multiple cycles of cleaning and reconditioning of the sorbent without alteration of its chromatographic properties.