Search results for "replacement therapy"

Characteristics of patients with mucopolysaccharidosis type II who have received a bone marrow transplant: Data from the Hunter Outcome Survey

2019

Mucopolysaccharidosis type II (MPS II Hunter syndrome) is a rare, life-limiting, X-linked lysosomal storage disease. The Hunter Outcome Survey (HOS) is a Shire-sponsored, global, observational registry initiated in 2005 that collects real-world data on the natural history of MPS II and long-term treatment with enzyme replacement therapy (ERT) with idursulfase. Patients receiving other forms of pharmacological ERT are excluded from HOS but individuals who have received a bone marrow transplant (BMT) may be enrolled. This analysis examined the characteristics of 36 male patients in HOS from Europe and North America who had received a BMT (March 2018 data). In total, 22 patients (61.1%) were E…

Body composition and muscle performance during menopause and hormone replacement therapy.

2003

Menopausal transition is characterized by ovarian failure and its consequent decrease in female sex steroid production. Earlier studies suggest that an increase and redistribution of body fat during menopause predispose women to cardiovascular disease and metabolic syndrome. In addition, peri- and post-menopausal women seem to have less lean body mass (LBM) compared with pre-menopausal women. Accordingly, a changing ovarian hormonal status may accelerate the loss of muscle mass and result in decreased muscle performance and functional capacity. Hormone replacement therapy (HRT) has been used to treat menopausal symptoms and as a primary prevention therapy in chronic conditions. Inconsistent…

Tartrate-Resistant Acid Phosphatase 5b: A Novel Serum Marker of Bone Resorption

2000

Human serum contains two forms of tartrate-resistant acid phosphatase (TRAP), 5a and 5b. Of these, 5a contains sialic acid and 5b does not. We show here that antigenic properties and pH optimum of TRAP purified from human osteoclasts are identical to those of serum TRAP 5b and completely different from those of serum TRAP 5a, suggesting that 5b would be derived from osteoclasts and 5a from some other source. We developed a novel immunoassay specific for 5b using a monoclonal antibody O1A as capture antibody. O1A did not bind acid phosphatase derived from platelets and erythrocytes. Western analysis showed that O1A was specific for TRAP in both human bone and serum. We measured bound TRAP ac…

A 15-Year Perspective of the Fabry Outcome Survey

2016

Abstract The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agalα). Established in 2001, FOS provides long-term data on agalα safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demon…

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

2015

Outcomes from 5 years of treatment with agalsidase alfa enzyme replacement therapy (ERT) for Fabry disease in patients enrolled in the Fabry Outcome Survey (FOS) were compared with published findings for untreated patients with Fabry disease. Data were extracted from FOS, a Shire-sponsored database, for comparison with data from three published studies. Outcomes evaluated were the annualized rate of change in estimated glomerular filtration rate (eGFR) and left ventricular mass indexed to height (LVMI) as well as time to and ages at a composite morbidity endpoint and at death. FOS data were extracted for 740 treated patients who were followed for a median of ~ 5 years. Compared with no trea…

A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI.

2012

Cervical cord compression is a sequela of mucopolysaccharidosis VI, a rare lysosomal storage disorder, and has devastating consequences. An international panel of orthopedic surgeons, neurosurgeons, anesthesiologists, neuroradiologists, metabolic pediatricians, and geneticists pooled their clinical expertise to codify recommendations for diagnosing, monitoring, and managing cervical cord compression; for surgical intervention criteria; and for best airway management practices during imaging or anesthesia. The recommendations offer ideal best practices but also attempt to recognize the worldwide spectrum of resource availability. Functional assessments and clinical neurological examinations …

Similar efficacy of low and standard doses of transdermal estradiol in controlling bone turnover in postmenopausal women

2006

To investigate the effects of a low transdermal estradiol dose on bone metabolism and to compare it with both the standard dose and absence of treatment.In this study performed in a third-level academic center, 66 healthy postmenopausal women underwent hormone therapy (HT) with patches containing estradiol at standard (0.050 mg/day, HT50, 33 women) or low dosage (0.025 mg/day, HT25, 33 women) and 70 women were without treatment (NT). The values (mean of three samples) of several bone biochemical parameters were compared between groups after adjusting for confounding factors. Bone mineral density (BMD) was assessed (by dual-energy X-ray absorptiometry) in the spine and hip in all cases, and …

Vascular aging in women: is estrogen the fountain of youth?

2012

Aging is a physiological process associated with structural and functional changes in vasculature, including endothelial dysfunction, arterial stiffening and remodeling, impaired angiogenesis, and defective vascular repair, and with an increasing prevalence of atherosclerosis. The risk of cardiovascular disease differs between men and women, remaining lower in women during their fertile years and reaching values similar to their male peers after menopause. Menopause is marked by the loss of endogenous estrogen production. Therefore, estrogens have been implicated in premenopausal protection from cardiovascular disease, an assumption supported by experimental and some clinical studies, where…

Mutations in the Factor XII Gene in Solitary Cases of Recurrent Angioedema with Normal C1 Inhibitor Induced or Worsened by Oral Contraceptives or Hor…

2012

Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy.

2009

Anderson-Fabry disease, an inherited deficiency in the lysosomal enzyme alpha-galactosidase A, is characterized by the progressive accumulation of globotriaosylceramide (Gb3), also known as CD77. We sought to clarify the pathogenesis of Fabry disease by establishing a cell model of this disorder. The expression of alpha-galactosidase A was transiently silenced by RNA interference in HK2 and primary human renal epithelial cells and stably silenced in HK2 cells by retroviral transfection with small hairpin RNA. All of the silenced cells had histological similarities to cells of patients with Fabry disease. The cells had reduced viability, significant accumulation of intracellular Gb3, and a m…