Search results for "Dosis"
showing 10 items of 369 documents
Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis
2015
Purpose The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma in patients with MPS, as well as the characteristics, diagnosis and management of patients with MPS and glaucoma. Methods A multicentre retrospective case-note review was carried out by ophthalmologists from four tertiary referral centres to identify patients with MPS who had been treated for glaucoma. Clinical ophthalmological data were collected using standardized data collection forms. Results Fourteen patients were identified (27 eyes) of 2…
Risk factors of oral candidosis: a twofold approach of study by fuzzy logic and traditional statistic.
2007
Abstract Objective To assess a panel of risk factors associated to oral candidosis (OC) onset and its chronic maintenance by means of fuzzy logic (FL) approach and statistical traditional methodology (STM); to investigate their casual relationship within a multifactorial framework. Design Case–control study. Setting One hospital-based clinic. Patients Eighty-nine patients with OC infection microbiologically diagnosed and 98 healthy subjects were consecutively recruited. Outcome measurements Anamnestic and clinical evaluations for OC, microbiological assessment (i.e. culture, CFU/mL counting and identification) were performed. The commonest predisposing factors for OC onset and its chronic s…
Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.
2012
To assess clinical features and general health status of adult patients with mucopolysaccharidosis (MPS) VI. This report includes the clinical history of patients older than 18 years with slowly progressing MPS VI and the retrospective analysis of the outcomes of available data collected between September 2003 and October 2008 at the Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Germany. Variables included were urinary glycosaminoglycan (uGAG) level, mutation analysis, body height, forced vital capacity (FVC), 6-minute walk test, echocardiographic findings, the need for craniocervical decompression surgery, orthopaedic findin…
Asymptomatic immunoglobulin light chain amyloidosis (AL) at the time of diagnostic bone marrow biopsy in newly diagnosed patients with multiple myelo…
2011
The rate of asymptomatic amyloidosis (AL) among patients with newly diagnosed multiple myeloma (MM) or smoldering multiple myeloma (SMM) is unknown. We evaluated number and clinical significance of asymptomatic AL in consecutive MM and SMM patients, not having recognition of symptomatic AL at the time of their diagnostic bone marrow biopsy. Bone marrow biopsies were stained with Congo red and considered diagnostic for AL in case of positive Congo red staining with apple-green birefringence. Biopsies from 144 patients were evaluated: 77 had a diagnosis of MM and 67 of SMM. The median age was 59 (range 26–84) years; the median follow-up was 76 months (range 0–216). Immunoglobulin isotypes wer…
Sudden death due to cardiac sarcoidosis in a case of suspected homicide
1993
In a case of suspected homicide death due to natural causes — cardiac death (SCD) — was found at autopsy. Despite an extensive replacement of myocardial tissue by sarcoid granulomata there was no history of cardiac dysfunction or preceding symptoms. The transmurally infiltrating granulomata and the concomitant fibrosis were predominantly confluent. They occupied vast areas within the interventricular septum and the adjacent posterior wall of the left ventricle. The only other organs involved were mediastinal lymph nodes, which appeared macroscopically normal.
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
2009
Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life. Patients with the less severe form do not experience significant cognitive involvement and may survive until the fifth or sixth decade of life. We studied the relationship of both severity of MPS II and the time period in which patients died with age at death in 129 patients for whom data were entered retrospectively into HOS (Hunter Outcome Survey), the only large-scale, multinational observational study of patients with MPS II.…
Whole-body potassium and bone mineral density up to 30 years after urinary diversion
1998
Objectives To evaluate the long-term effects of different types of urinary diversion on skeletal bone density and whole-body potassium content in patients with an early correction of base excess (<−2.5). Patients and methods The early correction of base excess (<−2.5) is one of the principles of the treatment of patients undergoing urinary diversion at our institution. In 27 patients with urinary diversion, bone mineral density (assessed by dual-photon absorptiometry), whole-body potassium, electrolyte and creatinine levels were determined, and capillary blood gas analysed. The mean time since surgery was 16.8 years in 16 patients with a rectal reservoir, 20.5 years in six patients with a…
Prevalence and characterization of cardiac involvement in Hunter syndrome.
2011
To assess the prevalence of cardiovascular signs and symptoms in a large group of patients with Hunter syndrome, an X-linked metabolic disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase.The Hunter Outcome Survey was established to characterize the natural history of Hunter syndrome and to assess the response to enzyme replacement therapy. Echocardiographic and electrocardiographic examination results were available for 102 patients who were enzyme replacement therapy-naïve in the Hunter Outcome Survey (median age at examination, approximately 8 years) as of Jan 23, 2009.The most common cardiovascular finding was valve disease, which was present in 63% of patients.…
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…
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
2010
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. It has multisystemic involvement, with manifestations in the brain, upper respiratory tract, heart, abdomen, joints and bones. Bone involvement leads to decreased growth velocity and short stature in nearly all patients. A therapeutic option for patients with MPS II is enzyme replacement therapy (ERT) with idursulfase (Elaprase®). We compared annual growth rates before and during ERT in 18 patients from Mainz, Germany, and Manchester, UK. Group 1 included nine patients who started ERT before 10 years of age; group 2 contained nine patie…