Search results for "REPLACEMENT THERAPY"

Endometrial Receptivity Analysis (ERA): data versus opinions

2021

Abstract This article summarises and contextualises the accumulated basic and clinical data on the ERA test and addresses specific comments and opinions presented by the opponent as part of an invited debate. Progress in medicine depends on new technologies and concepts that translate to practice to solve long-standing problems. In a key example, combining RNA sequencing data (transcriptomics) with artificial intelligence (AI) led to a clinical revolution in personalising disease diagnosis and fostered the concept of precision medicine. The reproductive field is no exception. Translation of endometrial transcriptomics to the clinic yielded an objective definition of the limited time period …

Optimal doses of caspofungin during continuous venovenous hemodiafiltration in critically ill patients

2017

Alterations in speech and voice in patients with mucopolysaccharidoses.

2013

The mucopolysaccharidoses are a group of lysosomal disorders characterized by abnormal accumulation of glycosaminoglycans within cell lysosomes leading to a variety of signs and symptoms including alterations in speech and voice production. These changes were analysed in 44 patients with mucopolysaccharidosis (MPS) types I, II, and VI using standardized protocols. Compared to healthy individuals the diadochokinetic rate for the fast repetition of syllables was slower and more irregular, the voice-onset time for the voiceless consonant /p/ was shorter, and most patients had a hoarse voice. The fundamental frequency (F0) of sustained spoken vowels was in the normal range for most women and ch…

Hormone replacement therapy enhances IGF-1 signaling in skeletal muscle by diminishing miR-182 and miR-223 expressions : a study on postmenopausal mo…

2014

MiRNAs are fine-tuning modifiers of skeletal muscle regulation, but knowledge of their hormonal control is lacking. We used a co-twin case-control study design, that is, monozygotic postmenopausal twin pairs discordant for estrogen-based hormone replacement therapy (HRT) to explore estrogen-dependent skeletal muscle regulation via miRNAs. MiRNA profiles were determined from vastus lateralis muscle of nine healthy 54-62-years-old monozygotic female twin pairs discordant for HRT (median 7 years). MCF-7 cells, human myoblast cultures and mouse muscle experiments were used to confirm estrogen's causal role on the expression of specific miRNAs, their target mRNAs and proteins and finally the act…

Albumin replacement therapy in immunocompromised patients with sepsis - Secondary analysis of the ALBIOS trial

2021

Abstract Background The best fluid replacement strategy and the role of albumin in immunocompromised patients with sepsis is unclear. Methods We performed a secondary analysis of immunocompromised patients enrolled in the ALBIOS trial which randomized patients with severe sepsis or septic shock to receive either 20% albumin (target 30 g per liter or more) and crystalloid or crystalloid alone during ICU stay. Results Of 1818 patients originally enrolled, 304 (16.4%) were immunocompromised. One-hundred-thirty-nine (45.7%) patients were randomized in the albumin while 165 (54.2%) in the crystalloid group. At 90 days, 69 (49.6%) in the albumin group and 89 (53.9%) in the crystalloids group died…

Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

2007

Aims Anderson–Fabry disease (AFD) is an uncommon X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. The Fabry Outcome Survey is a European database designed to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. The aim of this study was to determine the prevalence and characteristics of cardiac disease in AFD patients. Methods and results Clinical and laboratory data were available in 714 patients from 11 countries (mean age 35 ± 17 years, 369 women, 336 treated). The prevalence of angina was 23 vs. 22%; palpitations and arrhythmias 27 vs. 26%; exertional dyspnoea 23 vs. 23%; and syncope 2 vs. 4%, in wom…

Safety of agalsidase alfa in patients with Fabry disease under 7 years

2011

Aim:  To evaluate the safety and explore the efficacy of enzyme replacement therapy (ERT) for Fabry disease with agalsidase alfa in young children enrolled in the Fabry Outcome Survey (FOS). Methods:  This retrospective chart review identified eight children (mean age = 5.0 ± 1.6 [mean ± SD]) in FOS who began treatment with agalsidase alfa (0.2 mg/kg, i.v., every other week) when <7 years old. Vital signs and adverse events were monitored throughout the study period. Glomerular filtration rate (GFR) was estimated, and left ventricular mass indexed to height2.7 (LVMi) was assessed with echocardiography. Patients received 1.2–6.7 years of treatment (mean = 4.2 years). Results:  Infusion react…

Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).

2019

Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A) leading to intracellular accumulation of globotriaosylceramide (Gb3). Patients with amenable mutations can be treated with migalastat, a recently approved oral pharmacologic chaperone to increase endogenous alpha-Gal A activity. We assessed safety along with cardiovascular, renal, and patient-reported outcomes and disease biomarkers in a prospective observational multicenter study after 12 months of migalastat treatment under real-world conditions. Fifty-nine (28 females) patients (34 (57.6%) pretreated with enzyme replacement therapy) w…

Evaluation of the long-term treatment effects of idursulfase using statistical modelling: Data from the Hunter Outcome Survey (HOS)

2019

Treatment for mucopolysaccharidosis type II (MPS II Hunter syndrome) is available in the form of intravenous enzyme replacement therapy (ERT) with idursulfase (Shire, Lexington, MA, USA). This analysis used statistical modelling to evaluate the long-term treatment effects of idursulfase on selected clinical parameters based on data from HOS, a global, observational registry (Shire, Lexington, MA, USA). Mixed modelling was used to analyse data from male patients followed prospectively in HOS who had received idursulfase for 5-8 years and information available for two or more timepoints, of which one was pre-ERT. Data were excluded from patients with only pre-ERT information available, who ha…

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

2020

Purpose: To survey risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) practice and advice regarding hormone replacement therapy (HRT) in women with Lynch syndrome. Methods: We conducted a survey in 31 contributing centers from the Prospective Lynch Syndrome Database (PLSD), which incorporates 18 countries worldwide. The survey covered local policies for risk-reducing hysterectomy and BSO in Lynch syndrome, the timing when these measures are offered, the involvement of stakeholders and advice regarding HRT. Results: Risk-reducing hysterectomy and BSO are offered to path_MLH1 and path_MSH2 carriers in 20/21 (95%) contributing centers, to path_MSH6 carriers in 19/21 (91%) and…