Search results for "replacement therapy"

Enzyme replacement and gene therapy for mucopolysaccharidoses: current progress and future directions

2015

Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by the deficiency of enzymes that are responsible for the stepwise degradation of complex carbohydrates, the glycosaminoglycans. Whereas in the past the treatment of MPS consisted mainly of palliative care, enzyme replacement therapy (ERT) is now possible for some MPS disorders, and in the future many other therapeutic options will become available.Areas covered: This review, based on personal experience and the currently available literature, will give an overview on the efficacy and limitations of ERT and will discuss new therapeutic approaches, such as anti-inflammatory drugs, substrate reduction therapy, ch…

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

2015

Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining n…

Systemic therapies for mucopolysaccharidosis: ocular changes following haematopoietic stem cell transplantation or enzyme replacement therapy - a rev…

2010

The management of mucopolysaccharidosis (MPS) is focused on the multi-organ, sometimes life-threatening, clinical manifestations that occur over time. In the past, the limited, symptom-based treatment options led physicians to adopt a palliative approach towards individual disease-associated complications. The availability of systemic treatments such as haematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has created a better prognosis for MPS patients, particularly when initiated early in life. As part of an integrated management approach, these therapies could be valuable in managing the ocular features that are present in many children with MPS. HSCT has b…

Management of Acute Kidney Injury and Extracorporeal Blood Purification Therapies During the COVID-19 Pandemic: The Italian SIN–SIAARTI Joint Survey …

2022

Background and AimThe novel coronavirus disease 2019 remains challenging. A large number of hospitalized patients are at a high risk of developing AKI. For this reason, we conducted a nationwide survey to assess the incidence and management of AKI in critically ill patients affected by the SARS-CoV-2 infection.MethodsThis is a multicenter, observational, nationwide online survey, involving the Italian Society of Nephrology and the critical care units in Italy, developed in partnership between the scientific societies such as SIN and SIAARTI. Invitations to participate were distributed through emails and social networks. Data were collected for a period of 1 week during the COVID-19 pandemic…

219 Incidence Testing of Hunter Syndrome in A Population at Risk - First Results of A Binational Screening Programme

2012

Background Hunter syndrome (Mucopolysaccharidosis type II; X-linked inheritance; prevalence rate in Europe approximately 1:77000 male newborns) is a rare, progressive, multisystemic disease, caused by deficiency of the lysosomal enzyme Iduronate-2-sulfatase. Due to the very heterogeneous phenotype Hunter syndrome is often not diagnosed before pre-school age. This is unfortunate, because patients would significantly benefit from the earliest possible start of treatment containing enzyme replacement therapy. Early screening methods are possible, but due to the rarity of this disease they are too expensive to be performed in all newborns. An at-risk patient population screening provides opport…

Effects of combined hormone replacement therapy or its effective agents on the IGF-1 pathway in skeletal muscle.

2010

Objectives To investigate the effects of combined hormone replacement therapy (HRT) and its effective agents on the IGF-1 signaling pathway. Design and methods To examine the effects of HRT on skeletal muscle in vivo, we utilized pre- and post-intervention samples from a randomized double blinded trial with 50–57-year-old women. The intervention included the year-long use of either HRT preparation (2 mg 17β-estradiol, E2; 1 mg norethisterone acetate, NETA, n = 10) or placebo (CO, n = 9). Microarray technology and quantitative PCR (qPCR) were used to study the expression of insulin-like growth factor I (IGF-1) and its splice variants as well as IGF-1 receptor, Akt1, mTOR, FOXO1, FOXO3, atrog…

Muscle function in monozygotic female twin pairs discordant for hormone replacement therapy

2011

Introduction: Postmenopausal monozygotic twin pairs discordant for hormone replacement therapy (HRT) provide an advantageous study design controlling for genetic background for elucidating the relationships between aging, sex hormone levels, muscle strength, contractile capacity, and fatigability. Methods: Thirteen postmenopausal monozygotic twin pairs discordant for HRT were measured for maximal voluntary torque (MVC) and twitch characteristics using electrical stimulation before and after intermittent dynamic plantarflexor exercise until exhaustion. Results: Peak twitch torque was 32% higher in HRT users than in their non-HRT, genetically identical sisters (P = 0.002), but MVC did not dif…

Menopause modulates the circulating metabolome: evidence from a prospective cohort study

2022

Abstract Aims We studied the changes in the circulating metabolome and their relation to the menopausal hormonal shift in 17β-oestradiol and follicle-stimulating hormone levels among women transitioning from perimenopause to early postmenopause. Methods and results We analysed longitudinal data from 218 Finnish women, 35 of whom started menopausal hormone therapy during the study. The menopausal transition was monitored with menstrual diaries and serum hormone measurements. The median follow-up was 14 months (interquartile range: 8–20). Serum metabolites were quantified with targeted nuclear magnetic resonance metabolomics. The model results were adjusted for age, follow-up duration, educat…

Towards powerful old age : association between hormone replacement therapy and skeletal muscle

2010

Aging and microRNA messaging : associations with systemic estrogen levels and physical performance

2018

This thesis took an innovative approach, which involved methodological development, to investigate microRNAs as candidate molecules and as genome-wide regulators of age, menopausal status and physical condition in both sexes. The focus was on potential serum microRNAs indicative of age, pre- or postmenopausal status, with or without estrogen- based hormone replacement therapy (HRT), and long-term physical training. MicroRNA associations with adiposity and inflammatory markers were also analyzed. Three different study designs were used: 1) the SAWEs study comprised healthy postmenopausal monozygotic twin sisters (n=11, 54-62 years) with discordance for HRT and premenopausal women (n=30, 20-4…