Search results for "Axia"
showing 10 items of 638 documents
Acetyl-dl-leucine in Niemann-Pick type C
2015
Objective: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. Methods: Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subsequent washout period of 1 month. The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered. Measurements took place at baseline, after 1 month of therapy, and after 1 month of washout. Results: The SARA score chan…
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in fo…
1997
Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life. Hex A activity is usually absent in tissue and body fluids of these patients. Juvenile and adult Hex A deficiencies are less severe but rare variants with some residual Hex A activity. All these variants are most prevalent among Ashkenazi Jews. We describe a non-Jewish family in which four adult brothers and sisters had markedly reduced Hex A activities and onset of symptoms in the second decade o…
Comparison of Immersion Ultrasound, Partial Coherence Interferometry, and Low Coherence Reflectometry for Ocular Biometry in Cataract Patients
2011
PURPOSE: To compare ocular biometry parameters measured with immersion ultrasound, partial coherence interferometry, and low coherence reflectometry in cataract patients. METHODS: Measurements of axial length and anterior chamber depth were analyzed and compared using immersion ultrasound, partial coherence interferometry, and low coherence reflectometry. Keratometry (K), flattest axis, and white-to-white measurements were compared between partial coherence interferometry and low coherence reflectometry. Seventy-eight cataract (LOCS II range: 1 to 3) eyes of 45 patients aged between 42 and 90 years were evaluated. A subanalysis as a function of cataract degree was done for axial length and…
Hypo-excitability of cortical areas in patients affected by Friedreich ataxia: A TMS study
2005
The aim of the study was to explore excitability of a motor and a non-motor (visual) area in patients affected by Friedreich ataxia and to correlate neurophysiological data with clinical parameters. Seven patients (3M/4F) and ten healthy controls (5M/5F) participated in the study. The hot-spot for activation of right abductor pollicis brevis was checked by means of a figure-of-eight coil and the motor threshold (MT) on this point was recorded. The phosphene threshold (PT) was measured by means of a focal coil over the occipital cortex as the lower intensity of magnetic stimulation able to induce the perception of phosphenes. The patients showed a significantly higher mean PT (p<.03) and MT …
Predictive value of the balloon expulsion test for excluding the diagnosis of pelvic floor dyssynergia in constipation
2003
Abstract Background & Aims: The aim of this study was to establish a simple method to exclude the possibility of pelvic floor dyssynergia (PFD) in constipated patients and thus avoid unnecessary expensive physiologic studies. Methods: Patients with suspicion of functional constipation (FC) were studied prospectively between 1994 and 2002, excluding those with severe systemic, psychological, or symptomatic anorectal/colonic disorders or taking medications that might modify symptoms or results of studies. Diagnosis of PFD was established retrospectively by manometric plus defecographic findings according to Rome II criteria. Two groups of patients were identified: FC without PFD (FC group) an…
Different patterns of in vivo pro-oxidant states in a set of cancer- or aging-related genetic diseases
2008
A comparative evaluation is reported of pro-oxidant states in 82 patients with ataxia telangectasia (AT), Bloom syndrome (BS), Down syndrome (DS), Fanconi anemia (FA), Werner syndrome (WS), and xeroderma pigmentosum (XP) vs 98 control donors. These disorders display cancer proneness, and/or early aging, and/or other clinical features. The measured analytes were: (a) leukocyte and urinary 8-hydroxy-2'-deoxyguanosine (8-OHdG), (b) blood glutathione (GSSG and GSH), (c) plasma glyoxal (Glx) and methylglyoxal (MGlx), and (d) some plasma antioxidants [uric acid (UA) and ascorbic acid (AA)]. Leukocyte 8-OHdG levels ranked as follows: WS>BS approximately FA approximately XP>DS approximately AT appr…
Sexual Quality of Life in Patients with Axial Spondyloarthritis in the Biologic Treatment Era.
2019
Author's accepted manuscript. This is a pre-copyediting, author-produced PDF of an article accepted for publication in The Journal of Rheumatology following peer review. The definitive publisher-authenticated version Berg, K. H., Rohde, G., Prøven, A., Benestad, E. E. P., Østensen, M. & Haugeberg, G. (2019). Sexual Quality of Life in Patients with Axial Spondyloarthritis in the Biologic Treatment Era. The Journal of Rheumatology, 46(9), 1075-1083 is available online at: https://www.jrheum.org/content/46/9/1075. Objective. To examine the relationship between demographics, disease-related variables, treatment, and sexual quality of life (SQOL) in men and women with axial spondyloarthritis (ax…
Transoral transclival removal of anteriorly placed cavernous malformations of the brainstem.
2001
BACKGROUND The natural history of brain stem cavernous malformations is unfavorable because of their high hemorrhage rate and resulting neurological deterioration among patients. However, direct surgery of intrinsic and anteriorly situated cavernomas is hazardous and leads to a bad postoperative outcome because of trauma to lateral and dorsally situated eloquent areas of the brain stem. METHODS We review the cases of two patients with symptomatic cavernous malformations of the anterior brain stem and describe the usefulness of a transoral-transclival approach. A 23-year-old man developed progressive hemihypaesthesia and paraesthesia, hemiparesis with gait ataxia, dysarthria, dysphonia, and …
Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells.
1995
Lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells are regular findings in childhood NCL. They have also been described in adult NCL (ANCL) a few times, but not consistently. However, they have been considered nonspecific when not matched by similar abnormal profiles in noneccrine sweat gland epithelial cells. These conflicting reports may pose a diagnostic dilemma as outlined in the following 2 examples. Patient 1 is a 20-year-old man who developed severe tetraparesis and dementia over 2 years. Electroencephalogram was abnormal with epileptiform discharges. The patient died at age 21 years without autopsy ; no other relatives are known to have a similar disease.…
The relationship of ocular geometry with refractive error in normal and low birth weight adults
2020
Purpose Low birth weight (BW) individuals have an increased risk for myopic refractive error. However, it is unclear which ocular geometric alterations lead to an increase in myopic refractive error. This study aims to evaluate the impact of ocular biometry in interaction with BW on refractive error. Methods Participants of the prospective, observational, population-based Gutenberg Health Study (GHS) with self-reported BW aged 40–80 years and objective refraction and optical biometry were included. Linear regression analyses were conducted to evaluate associations between spherical equivalent with corneal power, anterior chamber depth, lens thickness and axial length and its interaction wit…