Search results for "replacement therapy"

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before an…

2020

Rossella Parini,1,2 Guillem Pintos-Morell,3 Julia B Hennermann,4 Ting-Rong Hsu,5 Nesrin Karabul,6 Vasiliki Kalampoki,7 Andrey Gurevich,7 Uma Ramaswami8 On behalf of the FOS Study Group1Rare Metabolic Diseases Unit, MBBM Foundation, San Gerardo Hospital, Reference Centre for Hereditary Metabolic Disorders (MetabERN), Monza, Italy; 2TIGET Institute, IRCCS San Raffaele Hospital, Milan, Italy; 3Division of Rare Diseases, Reference Centre for Hereditary Metabolic Disorders (MetabERN), University Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona, Spain; 4Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center, Mainz, Germany; 5Dep…

Consensus Document on substitution therapy with DHEA in the elderly

2006

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical …

2008

Abstract The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome), a lysosomal storage disease. Fifty-six patients derived from 3 clinical studies were followed in open-label extension studies for a total period of 97–260 Weeks. All patients received weekly infusions of rhASB at 1mg/kg. Efficacy was evaluated by (1) distance walked in a 12-minute walk test (12MWT) or 6-minute walk test (6MWT), (2) stairs climbed in the 3-minute stair climb (3MSC), and (3) reduction in urinary glycosaminoglycans (GAG). Safety was evaluated by compliance, adve…

Real-time, ultrasound-guided infraclavicular axillary vein cannulation for renal replacement therapy in the critical care unit—A prospective interven…

2015

Abstract Purpose The cannulation of the axillary vein for renal replacement therapy is a rarely performed procedure in the critical care unit. We defined the venipuncture and catheterization success rates and early mechanical complication rates of this technique in critical care patients with acute kidney injury. Materials and methods Twenty-nine mechanically ventilated patients with clinical indications for insertion of temporary hemodialysis catheters enrolled in a registered trial (NCT01919528) as a pilot cohort. We performed 29 real-time, ultrasound-guided infraclavicular axillary vein cannulation attempts for renal replacement therapy. We defined the venipuncture and catheterization su…

Thrombosis in inherited factor VII deficiency

2003

Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic events were arterial in one case, disseminated intravascular coagulation in another and venous in seven. Gene mutations were characterized in eight patients: three were homozygous, three compound heterozygous and two heterozygous. FXa and IIa generation assays were consistent with the genetic lesions. One patient was heterozygous for the FV Leiden and one for the FIIG20210A mutation. In seven patients, surgical interventions and/or replacem…

Ocular Changes in Patients With Mucopolysaccharidosis I Receiving Enzyme Replacement Therapy

2007

Objective To describe the progression of ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy. Methods Three male and five female patients with mucopolysaccharidosis I were followed up for 4 years while undergoing enzyme replacement therapy with α-L-iduronidase (Aldurazyme). Visual acuity, corneal clouding, intraocular pressure, ophthalmoscopy, and optic disc measurements were performed yearly. Results Vision remained stable in 5 patients and deteriorated by at least 2 Snellen lines in 3 patients. Deterioration in 2 of these patients was related to progressive corneal clouding. Visual acuities improved in 1 patient after bilateral penetrating keratopl…

Quality of Life and Stressors in Patients with Chronic Kidney Disease Depending on Treatment

2015

AbstractThis study evaluated health-related quality of life (HRQOL) in a Spanish sample of chronic kidney disease patients (n= 90) undergoing different renal replacement therapies, considering the influence of treatment stressors, mood, anxiety and quality of sleep. While all patients had worse physical functioning than controls (p< .01), only those undergoing haemodialysis (HD) showed worse physical well-being, occupational functioning, spiritual fulfillment and more health interference with work (p< .05). They also obtained higher depression scores than renal transplant patients (TX) (p= .005). Those TX receiving the immunosuppressor sirolimus exhibited more cardiac/renal, cognitive…

Long-term effects of nicotine gum on weight gain after smoking cessation.

1999

Smoking cessation usually results in weight gain. Nicotine gum therapy has been found to reduce weight gain in the first months after cessation, but its long-term effects are not fully known. The present study randomly assigned 608 smokers to receive placebo, 2 or 4 mg nicotine gum. In a follow-up analysis to the short-term weight change results reported in a previous paper [Doherty, Militello, Kinnunen, & Garvey (1996), Journal of Consulting and Clinical Psychology 64:799-807], we examined the effects of the nicotine gum on weight change for 1 year after cessation among the 92 1-year abstainers. We found that weight change showed some variation with gum dose (active vs. placebo), but that …

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

2003

Fabry disease (FD) is a debilitating progressive multisystem X-linked lysosomal storage disorder. It was generally believed that the disease affects only adult males. Through systematic pedigree analysis, we identified 35 paediatric FD patients (age 1 to 21 years, mean 12.6 years) in 25 families. Predominant signs in this cohort were: acroparesthesia, hypohidrosis, and cornea verticillata. Neurological and psychological changes, such as tinnitus, recurrent vertigo, headache, diminished level of activity, fatigue, and depression were often observed. Angiokeratoma and gastrointestinal symptoms were frequent. Some patients also showed cardiac abnormalities. Six children and adolescents (three …

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

2019

Alpha-mannosidosis (AM) is a very rare (prevalence: 1/500000 births) autosomal recessive lysosomal storage disorder. It is characterized by multi-systemic involvement associated with progressive intellectual disability, hearing loss, skeletal anomalies, and coarse facial features. The spectrum is wide, from very severe and lethal to a milder phenotype that usually progresses slowly. AM is caused by a deficiency of lysosomal alpha-mannosidase. A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 muta…