Search results for "STORAGE"
showing 10 items of 1239 documents
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
2002
Anderson-Fabry disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal alpha-galactosidase A. Clinical manifestations of Anderson-Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson-Fabry disease. This rev…
Basilar Artery Diameter Is a Potential Screening Tool for Fabry Disease in Young Stroke Patients
2010
<i>Background:</i> Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. <i>Methods:</i> BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. <i>Results:</i&g…
Influence of low temperature on bronchodilatation induced by terbutaline administered by metered dose or dry powder inhalers in asthmatics.
2000
Low temperatures may affect dose delivery efficacy and clinical effectiveness of medication aerosols. In this study we examine the effect of cold ambient temperature on the bronchodilatation produced by terbutaline delivered from a chlorofluorocarbon pressurized metered dose inhaler (pMDI) compared to a multi-dose dry powder inhaler (DPI). Fourteen stable asthmatics were studied on two consecutive days. On day 1, after measuring FEV1 at room temperature (22 degrees C), each patient was randomized to receive 500 microg of terbutaline delivered from pMDI or DPI stored for 24 h at 22 degrees C with FEV1 recorded 20 min post-dose; then, patients were placed in a chamber at -10 degrees C, and af…
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…
Cardiac arrhythmias in patients with Danon disease.
2016
Aims Different cardiac arrhythmias have been suggested to be associated with Danon disease, e.g. Wolff–Parkinson–White syndrome. However, a systematic electrophysiological investigation of patients with Danon disease is lacking thus far. Methods and results Seven patients with Danon disease (4 males, 35.8 ± 10.8 years; 3 females, 51.3 ± 19.9 years) from 3 different families were studied. In all patients, the presence of Danon disease was confirmed by western blot of biopsy material or genetic testing. The patients were characterized by 12-lead electrocardiogram (ECG), Holter ECG, echocardiography, and serial implantable cardioverter defibrillator (ICD) interrogations (in ICD recipients). Al…
Key issues in decomposing fMRI during naturalistic and continuous music experience with independent component analysis
2014
Background: Independent component analysis (ICA) has been often used to decompose fMRI data mostly for the resting-state, block and event-related designs due to its outstanding advantage. For fMRI data during free-listening experiences, only a few exploratory studies applied ICA.New method: For processing the fMRI data elicited by 512-s modern tango, a FFT based band-pass filter was used to further pre-process the fMRI data to remove sources of no interest and noise. Then, a fast model order selection method was applied to estimate the number of sources. Next, both individual ICA and group ICA were performed. Subsequently, ICA components whose temporal courses were significantly correlated …
Hereditary Progressive Mucinous Histiocytosis
1994
Background: Hereditary progressive mucinous histiocytosis was first described in 1988. The clinical features of this probably autosomal dominant inherited disease are skin-colored or red pea-sized tumors all over the skin appearing in the first decades of life and increasing gradually in number throughout life. In contrast to other benign histiocytic skin diseases there is no spontaneous tumor resolution. Observation and Results: A 52-year-old woman and her 25-year-old daughter of a further family are reported. Both showed similar longstanding lesions without tumor regression. There was no evidence of visceral involvement. Histologic, immunohistochemical, and ultrastructural examinations re…
Reactivity of isolated human chorionic vessels: analysis of some influencing variables
2003
The aim of the study was to determine whether 24 h of cold storage of samples, mode of delivery, and gestational age influenced in vitro human chorionic vascular reactivity (35 arteries and 34 veins). The following groups were compared: (i) fresh versus 24-h cold-stored (4 °C in Krebs–Henseleit solution) chorionic vascular rings from normal term placentas, (ii) fresh chorionic vascular rings from normal term placentas obtained after vaginal delivery versus those obtained after elective caesarean section, and (iii) fresh chorionic vascular rings from normal term placentas versus those obtained from preterm deliveries. Isometric recording of the concentration–response curve to KCl (5–120 mM)…
Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered
2011
Abstract Purpose Cerebro-vascular arteriopathy has been reported in late-onset Pompe disease (LOPD). Evidence of increased aortic stiffness in some patients and smooth muscle involvement in LOPD raises the possibility of aortic involvement. Our aim was to determine if aortic arteriopathy may be a complication of LOPD. Methods One patient with LOPD was diagnosed with aortic dilatation at Duke Metabolic clinic, 4 others were diagnosed at University of Mainz, Germany, where chest X-ray and echocardiography are routinely done for patients. Other causes of aortic vascular disease were assessed. Results We report evidence of dilated arteriopathy involving primarily the ascending thoracic aorta in…
Recommendations on the diagnosis and management of Niemann-Pick disease type C
2009
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. it is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient Support is hampered by the a…