Search results for "Replacement"

Supporting the success of an information systems project : viewpoints on education and replacement of the project manager

2013

Fabry Disease, a Complex Pathology Not Easy to Diagnose

2015

Fabry disease is a multisystemic lysosomal storage disorder, inherited in an X-linked manner. It is a defect of metabolism of the glycosphingolipids, due to the reduction or absence of the activity of lysosomal enzyme α-galactosidase A. This reduction of activity causes the storage of globotriaosylceramide and derivatives in the lysosomes, triggering a cascade of cellular events, mainly in vascular endothelium. These events are the responsible for the systemic clinical manifestations and the renal, cardiac and cerebrovascular complications, or a combination of them. The symptomatology can lead to the premature death of patient between the fourth or fifth decade of life. The first symptoms c…

Subcutaneous C1 inhibitor for prevention of attacks of hereditary angioedema: additional outcomes and subgroup analysis of a placebo-controlled rando…

2019

Abstract Background Hereditary angioedema (HAE) is a debilitating disorder resulting from C1-esterase inhibitor (C1-INH) deficiency. In the COMPACT phase 3 study the prophylactic use of a subcutaneous C1 inhibitor (C1-INH [SC], HAEGARDA®, CSL Behring) twice weekly significantly reduced the frequency of acute edema attacks. Analysis of treatment effects by subgroups, onset of effect, and other exploratory analysis have not been reported. Methods This is a post hoc exploratory analysis on data from the randomized, placebo-controlled COMPACT study. 90 patients with C1-INH-HAE were randomized to 1 of 4 treatment sequences: C1-INH (SC) 40 or 60 IU/kg of body weight twice weekly for 16 weeks, pre…

Influence of long-term postmenopausal hormone replacement therapy on estimated structural bone strength: A study in discordant monozygotic twins.

2011

Although postmenopausal hormone-replacement therapy (HRT) is known to prevent fractures, knowledge on the influence of long-term HRT on bone strength and its determinants other than areal bone mineral density is scarce. This study used a genetically controlled design with 24 monozygotic female twin pairs aged 54 to 72 years in which one cotwin was using HRT (mean duration 8 years) and the other had never used HRT. Estimated bone strength, cross-sectional area, volumetric bone mineral density, bone mineral mass, and cross-sectional density and mass distributions were assessed in the tibial shaft, distal tibia, and distal radius with peripheral computed tomography (pQCT). In the tibial shaft,…

Multimodality imaging strategies for the assessment of aortic stenosis: Viewpoint of the heart valve clinic international database (HAVEC) group

2016

International audience; Aortic stenosis is the most frequent valvular heart disease. In aortic stenosis, therapeutic decision essentially depends on symptomatic status, stenosis severity, and status of left ventricular systolic function. Surgical aortic valve replacement or transcatheter aortic valve implantation is the sole effective therapy in symptomatic patients with severe aortic stenosis, whereas the management of asymptomatic patients remains controversial and is mainly based on individual risk stratification. Imaging is fundamental for the initial diagnostic work-up, follow-up, and selection of the optimal timing and type of intervention. The present review provides specific recomme…

COVID-19 infection and glucocorticoids: update from the Italian Society of Endocrinology Expert Opinion on steroid replacement in adrenal insufficien…

2020

In November 2019, the Italian Society of Endocrinology (SIE) has published a consensus statement on the tailoring of glucocorticoid replacement in adrenal insufciency [1]. A few months later, a novel severe acute respiratory syndrome coronavirus (SARS-CoV2) has been recognized as responsible for COVID-19. The outbreak has now reached pandemic level, with a high global mortality rate [2]. From February on, Italy has experienced an exponential rise in the infected which is estimated to reach 200,000 people, with an overall lethality of approximately 10% [3]. A recent Chinese series of nearly 50,000 patients with confrmed COVID-19 infection found that approximately one-out-of-fve (19%) evolve …

Renal replacement therapy in acute kidney injury - Authors' reply.

2020

Parathyroid hormone serum concentration kinetic profile in critically ill patients undergoing continuous renal replacement therapies: a prospective o…

2021

Introduction: Elevated serum parathormone (PTH) levels have been observed in acute kidney injury and are related to calcium-phosphate metabolism disturbance, decreased renal production of 1,25 dihydroxyvitamin D3, impaired renal PTH excretion, and other renal-independent factors. There are no data regarding PTH concentration kinetics in critically ill patients undergoing continuous renal replacement therapies (CRRT) in an intensive care setting. The primary objective of this study was to investigate trends in PTH serum levels in critically ill patients with multiorgan failure undergoing CRRT, by performing periodic PTH measurements in the acute phase of critical illness. Material and method…

OGT and OGA expression in postmenopausal skeletal muscle associates with hormone replacement therapy and muscle cross-sectional area

2013

Protein glycosylation via O-linked N-acetylglucosaminylation (O-GlcNAcylation) is an important post-translational regulatory mechanism mediated by O-GlcNAc transferase (OGT) and responsive to nutrients and stress. OGT attaches an O-GlcNAc moiety to proteins, while O-GlcNAcase (OGA) catalyzes O-GlcNAc removal. In skeletal muscle of experimental animals, prolonged increase in O-GlcNAcylation associates with age and muscle atrophy. Here we examined the effects of hormone replacement therapy (HRT) and power training (PT) on muscle OGT and OGA gene expression in postmenopausal women generally prone to age-related muscle weakness. In addition, the associations of OGT and OGA gene expressions with…

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replace…

2004

Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system--the Mainz Severity Score Index (MSSI)--to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained fro…