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Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience
2007
This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin…
Prothrombotic State Induced by Middle-Distance Endurance Exercise in Middle-Aged Athletes
2018
AbstractSince the impact of possible prothrombotic factors on blood coagulation resulting from exercise remains elusive, this study investigated the acute effects of middle-distance endurance running on blood coagulation parameters in middle-aged athletes. The study population consisted of 33 male endurance runners who were engaged in a 21.1 km run under competitive conditions. Blood samples were collected before the run, immediately after the run, and 3 hours after run completion. Samples were assessed for activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen, D-dimer, factor VIII (FVIII), von Willebrand factor antigen (VWF:Ag), endogenous thrombin potential (area…
Analysis of chromosomal abnormalities in testicular and epididymal spermatozoa from azoospermic ICSI patients by fluorescence in-situ hybridization
2003
BACKGROUND: An increased incidence of numerical chromosomal abnormalities has been reported in the ejaculated spermatozoa of infertile patients. However, there are few cytogenetic studies of testicular and epididymal spermatozoa, and their results are still controversial. METHODS: Fluorescence in-situ hybridization (FISH) analysis of chromosomes 13, 18, 21, X and Y was performed on seven testicular samples and two epididymal samples from patients with obstructive azoospermia (OA), and on 13 testicular samples from patients with non-obstructive azoospermia (NOA). Five ejaculated sperm samples from normozoospermic fertile donors were evaluated as a control group. RESULTS: Both epididymal sper…
Gender differences on oxidative stress markers and complement component C3 plasma values after an oral unsaturated fat load test
2020
Abstract Objective Post-prandial lipaemia (PL), oxidative stress (OS), and complement component C3 (C3) values are related to the atherosclerosis process. The post-prandial response of C3 after an oral fat load test (OFLT) using unsaturated fat is poorly addressed. The aim of this study was to analyze and compare the post-prandial response of OS markers and C3 values in men and women after an OFLT using unsaturated fat. Methods The study included a total of 22 healthy subjects with normal lipids and normal blood glucose (11 men and 11 pre-menopausal women). An oral unsaturated fat load test (OFLT: 50 g fat per m2 body surface) was performed using a commercial liquid preparation of long chai…
Multichannel functional testing in normal subjects, glaucoma suspects, and glaucoma patients
2012
Purpose.: To evaluate visual function with a novel multichannel functional test named the ATD Multichannel Functional Test. Methods.: This multicenter study had a prospective and cross-sectional design. A total of 186 eyes were included: 42 with glaucoma, 14 glaucoma suspects due to optic nerve characteristics, 25 ocular hypertensives, and 105 normal eyes. All patients performed standard visual fields (Humphrey 24-2) and ATD with eight stimuli configurations: four achromatic (A), two red-green (T), and two blue-yellow (D). To derive main outcome measures, mean sensitivity, mean defect (MD), and pattern standard deviation (PSD) were calculated and compared among groups and types of stimuli w…
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis
2018
Background and purpose Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to detect morphological and functional brain alterations as well as neuropsychological impairment in LOPD. Methods We studied 21 patients (10 male, mean age 49 ± 18.4 years) with defined diagnosis of LOPD, divided into two groups: one with pre-symptomatic hyperCKemia with no muscle weakness and the second with limb-girdle muscle weakness. All patients underwent 3T magnetic resonance imaging (MRI) to obtain morphological/angiographic evaluation as w…
Relationship between video head impulse test (vHIT) and caloric test in patients with vestibular neuritis.
2016
Abstract Introduction and objectives The caloric test is the gold standard for the loss of vestibular function diagnosis. The video head impulse test (vHIT) assesses the same reflex by using a video-assisted examination of the impulsive manoeuvre. We intend to compare the variation of results of the vHIT and the caloric test in patients with vestibular neuritis with respect to their initial condition at two different moments of their evolution and to check the level of correlation between them and with that of the DHI test. Methods We explored 20 patients with neuritis by using both vHIT and the caloric test on the same day. We assessed the correlation between these two tests and with the D…
Cross-cultural adaptation of the orthognathic quality of life questionnaire (OQLQ) in a Brazilian sample of patients with dentofacial deformities
2010
Objectives: The aim of this study is to translate into Portuguese-Brazilian language and adapt cross-culturally to the Brazilian population the Orthognathic Quality of Life Questionnaire (OQLQ). Study Design: The cross-cultural adaptation process followed six stages which are; (I) initial translation, (II) synthesis of the translation, (III) back translation, (IV) expert committee and (V) test of the prefinal version. For validation process, the OQLQ results were compared with Oral Health Impact Profile Questionnaire (OHIP-49), with the generic SF-36 Quality of Life Questionnaire and a visual analogue scale. A convenience sample of 25 patients was selected in two Southern Brazilian states o…
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort…
2015
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype–phenotype correlations and phenotypic variability have yet to be fully clarified. Methods We report genotype–phenotype correlations in 27 novel subjects with 17q21.31 deletion and in 5 subjects with KANSL1 point mutation , 3 of whom were not previously reported. Results The prevalence of chromosome deletion and KANSL1 mutation was 83% and 17%, respectively. All patient…
Benign oral vascular lesions treated by sclerotherapy with ethanolamine oleate : a retrospective study of 43 patients
2017
Background Although sclerotherapy is a common treatment for benign oral vascular lesions, there is no well-standardized protocol for this purpose. The aim of the present study was to describe the clinical characteristics of patients treated by sclerotherapy with ethanolamine oleate (EO), in order to contribute to a better understanding of this technique. Material and Methods Medical records and images of 90 patients treated by the same sclerotherapy protocol were retrieved and analysed. Thus, 43 cases with complete information were selected and described. Results The most affected age group was 41–70 years, with a female predominance and 86% of patients being Caucasian. Lips were the most a…