Search results for "Replacement"
showing 10 items of 561 documents
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…
Association of childhood cancer with factors related to pregnancy and birth
1999
It has been hypothesized that risk factors of childhood cancers may already operate during the prenatal and neonatal period. Results of previous epidemiological studies have been inconsistent.During 1992-1997 a large case-control study on childhood cancers and a variety of potential risk factors was conducted in Germany. Cases were ascertained by the German Childhood Cancer Registry. Each case was matched to a population-based control of the same age and gender, sampled from the district where the case lived at the date of diagnosis. For the analyses, 2358 cases and 2588 controls were available.Risk of childhood acute leukaemia increased with maternal ageor =20 years at time of delivery (od…
Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.
2019
Moss-aGalactosidase A (moss-aGal) is a moss-derived version of human α-galactosidase developed for enzyme replacement therapy in patients with Fabry disease. It exhibits a homogenous N-glycosylation profile with >90% mannose-terminated glycans. In contrast to mammalian cell produced α-galactosidase, moss-aGal does not rely on mannose-6-phosphate receptor mediated endocytosis but targets the mannose receptor for tissue uptake. We conducted a phase 1 clinical trial with moss-aGal in six patients with confirmed diagnosis of Fabry disease during a 28-day schedule. All patients received a single dose of 0.2 mg/kg moss-aGal by i.v.-infusion. Primary endpoints of the trial were safety and pharmaco…
De novo mutation in a male patient with Fabry disease: a case report
2014
Abstract Background Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely. Case presentation In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, ang…