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991.
Clinical and molecular events in patients with Machado-Joseph disease under lamotrigine therapy 总被引:1,自引:0,他引:1
OBJECTIVE: Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 is an autosomal dominant spinocerebellar degeneration, for which there is no effective treatment. PATIENTS AND METHODS: This study involved the clinical response of lamotrigine (LTG) on six MJD patients with early truncal ataxia and the effect of LTG on the alteration of ataxin-3 expression in the transformed MJD lymphoblastoid cells. RESULT: LTG medication was found, on the basis of single leg standing test tandem gait index, to effectively improve gait balance, but did not prove to be effective in the withdrawal period. In Western blot analysis of ataxin-3 in MJD lymphoblastoid cells, extracellular application of LTG, while leaving the normal level of ataxin-3 intact, decreased the expression of mutant ataxin-3 in a dose-related manner. CONCLUSION: Our results indicated that LTG may have significant benefits in relief of gait disturbance in MJD patients with early ataxia, and may be related to the decreased expression of mutant ataxin-3. 相似文献
992.
993.
Pathergy in atypical eosinophilic pustular folliculitis 总被引:1,自引:0,他引:1
A 15-year-old, unmarried female presented to our dermatology department for an intensely pruritic skin rash that had appeared abruptly 3 days earlier. She had a remarkable medical history for a case of allergic rhinitis and several attacks of asthma in her early childhood. The condition waxed and waned initially but had improved in recent years. Physical examination revealed several erythematous plaques, papules studded with scattered pustules having diameters less than 0.3 mm. Conspicuous scratch marks had caused erythematous wheal-like indurations also studded with pustules in a linear distribution across the waist, forearms (Fig. 1), and back (Fig. 2). Discrete papulopustules were present on the face, nape and neck. The patient was otherwise healthy. There were no other symptoms such as fever, malaise, weakness, or lymphadenopathy Laboratory results were normal for hepatic and renal functions, serum electrolytes, glucose, protein, erythrocyte sedimentation rate (8 mm/h), and C-reactive protein (0.355 mg/l). A human immunodeficiency virus (HIV) antibody screen test was negative. Serum was positive for herpes simplex virus (HSV)-1 and HSV-2 IgG (in low titers), but negative for HSV-1 and HSV-2 IgM. White blood cell count revealed leukocytosis (11.2 x 10(3)/l), with a differential count of 68% neutrophils, 27% lymphocytes, and 8% eosinophils. Serum IgA, IgG, and IgM were within normal limits, but the IgE level was elevated (677 mg/dl). Cultures from peripheral blood and pustules were negative. A Tzank smear performed on the pustules showed no multinucleated giant cells. Fungal testing of skin scrapings from the initial lesion site gave negative results. Routine stool tests, including common pathogen and parasite screens, were negative, and urinalysis results were unremarkable. A biopsy specimen obtained from a skin pustule showed subcorneal eosinophilic and neutrophilic pustules in the follicular infundibulum with marked spongiosis of the follicular epithelium. (Fig. 3). There was a moderately dense superficial and deep perivascular mixed inflammatory cell infiltrate comprising eosinophils, neutrophils and lymphocytes. Migration of eosinophils and neutrophils through the vessel wall with variable luminal intramural fibrin deposition, histologically indicative of vasculopathy, was seen. There was concomitant slight perivascular dermal necrosis. (Fig. 4). Based on the clinical presentation and light microscopic findings on biopsy, a diagnosis of eosinophilic pustular folliculitis with pathergy was made. Systemic prednisolone 30 mg in divided doses was given. After 1 week of systemic corticosteroid therapy, the patient's condition was significantly improved and the patient was subsequently discharged. Two months later she had a relapse, upon which corticosteroid therapy was commenced leading to lesional resolution. The foci of eosinophilic folliculitis healed with areas of hyperpigmentation with variable scarring. 相似文献
994.
995.
Ro LS Lee-Chen GJ Wu YR Lee M Hsu PY Chen CM 《Journal of neurology, neurosurgery, and psychiatry》2005,76(5):752-755
BACKGROUND: UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene mutations have been found in patients with distal myopathy with rimmed vacuoles (DMRV). It is not clear how the same GNE gene mutations can result in different phenotypes in the same family with DMRV. METHODS: The clinical, neurophysiological, histopathological, and genetic characteristics of two patients with DMRV from a Chinese family from Taiwan were investigated. RESULTS: Two novel compound heterozygous mutations in different domains of the protein, Ile241Ser in the epimerase and Trp513stop in the kinase domain, were detected in both patients. However, the two patients demonstrated different patterns of disease progression: one had slow disease progression with a typical feature of DMRV (that is, weakness beginning in the distal leg muscles, typically anterior tibialis, with the quadriceps remaining relatively unaffected), and the other had rapid disease progression with an atypical presentation of DMRV. CONCLUSIONS: The results of the present study indicate that GNE gene mutations and probably modifier gene(s) or additional factors may result in different phenotypes of DMRV. 相似文献
996.
997.
The Webcam system: a simple, automated, computer-based video system for quantitative measurement of movement in nonhuman primates 总被引:2,自引:0,他引:2
Togasaki DM Hsu A Samant M Farzan B DeLanney LE Langston JW Di Monte DA Quik M 《Journal of neuroscience methods》2005,145(1-2):159-166
Investigations using models of neurologic disease frequently involve quantifying animal motor activity. We developed a simple method for measuring motor activity using a computer-based video system (the Webcam system) consisting of an inexpensive video camera connected to a personal computer running customized software. Images of the animals are captured at half-second intervals and movement is quantified as the number of pixel changes between consecutive images. The Webcam system allows measurement of motor activity of the animals in their home cages, without devices affixed to their bodies. Webcam quantification of movement was validated by correlation with measures simultaneously obtained by two other methods: measurement of locomotion by interruption of infrared beams; and measurement of general motor activity using portable accelerometers. In untreated squirrel monkeys, correlations of Webcam and locomotor activity exceeded 0.79, and correlations with general activity counts exceeded 0.65. Webcam activity decreased after the monkeys were rendered parkinsonian by treatment with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), but the correlations with the other measures of motor activity were maintained. Webcam activity also correlated with clinical ratings of parkinsonism. These results indicate that the Webcam system is reliable under both untreated and experimental conditions and is an excellent method for quantifying motor activity in animals. 相似文献
998.
999.
Lai PH Li KT Hsu SS Hsiao CC Yip CW Ding S Yeh LR Pan HB 《AJNR. American journal of neuroradiology》2005,26(2):279-288
BACKGROUND AND PURPOSE: Metabolites in pyogenic brain abscesses, as detected with in vivo proton MR spectroscopy, are different from those found in brain and can help differentiate pyogenic brain abscesses from necrotic neoplasms. We compared the findings of in vivo with those of in vitro MR spectroscopy and categorized the MR spectral patterns with respect to the causative organisms and abscess size. METHODS: Fifteen patients with pyogenic brain abscesses underwent in vivo 1.5-T (1)H MR spectroscopy and had findings of ring enhancement. The causative organisms were determined from cultures of aspirated pus. Single-voxel (1)H MR spectroscopy was performed with the point-resolved method (1600/270, 135 TR/TE). In six representative patients, in vitro 11.7-T (1)H MR spectra were obtained from the aspirated pus. RESULTS: Three in vivo MR spectral patterns were noted: A) presence of lactate at 1.3 ppm, cytosolic amino acids (leucine, isoleucine, and valine) at 0.9 ppm, alanine at 1.50 ppm, and acetate at 1.92 ppm, with the presence or absence of succinate at 2.4 ppm and lipids (0.8-1.3 ppm), representing mostly obligate anaerobes or a mixture of obligate and facultative anaerobes; B) presence of lactate at 1.3 ppm and cytosolic amino acids at 0.9 ppm, with the presence or absence of lipids but not acetate or alanine (0.8-1.3 ppm), representing mostly obligate aerobes or facultative anaerobes; and C) presence of lactate at 1.3 ppm alone, showing small abscess. Additional resonance peaks of lysine at 1.73 and 3.0 ppm, glutamate/glutamine at 2.09-2.36 ppm, taurine at 3.24 and 3.42 ppm, glycine at 3.55 ppm, and amino acids at 3.75 ppm could be observed in the in vitro MR spectra. CONCLUSION: Results from the in vivo observations were satisfactorily verified by the in vitro experiments. The in vitro measurements may offer complementary information that cannot be extracted from in vivo MR spectra. Determination of the three (1)H MR spectral patterns may be helpful in devising the best possible treatment plans for patients with pyogenic abscesses. 相似文献
1000.
Metastatic pulmonary calcification (MPC) characterized by diffuse calcium deposition in the lungs is known to occur in patients with chronic renal failure. However, MPC with pulmonary artery calcification is uncommon and has only been detected in a few patients with severe disorders. A 48-year-old man with chronic renal failure had cough and progressive dyspnea. Ventilation-perfusion (V/Q) lung scans showed multiple large-sized mismatched V/Q defects in the left middle and lower zones of lungs, which was consistent with a high probability of pulmonary embolism (PE). The findings of pulmonary scintigraphy resulted from MPC with pulmonary artery calcification, revealed by simultaneous technetium-99m MDP scintigraphy, low-dose computed tomography, and high-resolution computed tomography (HRCT) of the chest. 相似文献