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排序方式: 共有295条查询结果,搜索用时 15 毫秒
1.
J?rg Müller Klaus Seppi Nadia Stefanova Werner Poewe Irene Litvan Gregor K Wenning 《Movement disorders》2002,17(5):1041-1045
The frequency and pathophysiology of freezing of gait (FoG) in atypical parkinsonism is unknown. We analysed the frequency of FoG in postmortem-confirmed atypical parkinsonian disorders (APD) comprising corticobasal degeneration (CBD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Sixty-six patients with pathologically confirmed APD (CBD, n = 13; DLB, n = 14; MSA, n = 15; PSP, n = 24) formed the basis for a multicenter clinicopathological study. Clinical features at first and last clinical visit were abstracted from patient records on standardized forms following strict instructions. At the first visit (median 36 months after symptom onset), 24% of APD had FoG (CBD, 8%; DLB, 21%; PSP, 25%; MSA, 40%). Logistic regression analysis showed a significant association of FoG and urinary incontinence (P = 0.04) at first visit. At last visit, 47% of APD had FoG (CBD, 25%; PSP, 53%; DLB, 54%; MSA, 54%). Clinicopathological correlation based on routine postmortem examination failed to identify a consistent neuropathological substrate of FoG. This study demonstrates that (1) FoG is common in APD, and (2) urinary incontinence is significantly associated with FoG in these disorders. Whether FoG and urinary incontinence share similar neuropathological substrates remains to be determined by future studies. 相似文献
2.
Ioulia?Kobliakova Olga?Zatsepina Vera?Stefanova Vladimir?Polyakov Igor?KireevEmail author 《Chromosome research》2005,13(2):169-181
In this study we used a novel technique to reveal both longitudinal and transverse differentiation within mammalian mitotic
chromosomes. Structural changes in chromosomes that we term ‘differential decondensation’ were produced in cells that were
first incubated in hypotonic medium (15% Hanks’ solution), then adapted to normotonic conditions and thereafter exposed to
a second short hypotonic shock. Such a double hypotonic treatment (DHT) is not critical for cell viability, but considerably
elongates the G2 phase of the cell cycle. Giemsa staining of differentially decondensed chromosomes corresponds to standard
G-banding, but does not need the standard post-fixation treatment. Using ‘dynamic’ BrdU banding, we show that such ‘differential’
staining is a result of differential resistance of the R- and G-bands to DHT. Thus, early-replicating foci, markers of R-bands,
are localized in the peripheral chromatin halo, whereas late-replicating foci, corresponding to G-bands, remain associated
with the axial regions of chromatids. Remarkably, despite these major changes in the structure of the chromosomal bands, the
replication foci still preserve their discrete structure. 相似文献
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Alexey A. Shadrin PhD Sören Mucha PhD David Ellinghaus PhD Mary B. Makarious BSc Cornelis Blauwendraat PhD Ashwin A.K. Sreelatha MSc Antonio Heras-Garvin PhD Jinhui Ding PhD Monia Hammer PhD Alexandra Foubert-Samier MD Wassilios G. Meissner MD Olivier Rascol PhD Anne Pavy-Le Traon MD Oleksandr Frei PhD Kevin S. O'Connell PhD Shahram Bahrami PhD Stefan Schreiber MD Wolfgang Lieb MD Martina Müller-Nurasyid PhD Ulf Schminke MD Georg Homuth PhD Carsten O. Schmidt PhD Markus M. Nöthen MD Per Hoffmann PhD Christian Gieger PhD Gregor Wenning MD for the European Multiple System Atrophy Study Group J. Raphael Gibbs PhD Andre Franke PhD John Hardy PhD Nadia Stefanova PhD Thomas Gasser MD Andrew Singleton PhD Henry Houlden MD Sonja W. Scholz MD Ole A. Andreassen PhD Manu Sharma PhD 《Movement disorders》2021,36(2):449-459
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Marina V. Svetel Gordana Djuric Ivana Novakovic Valerija Dobricic Elka Stefanova Nikola Kresojevic Aleksandra Tomic Milena Jankovic Igor Petrovic Tatjana Pekmezovic Vladimir S. Kostic 《Acta neurologica Belgica》2013,113(3):243-245
Brain-derived neurotrophic factor (BDNF) modulates neuroplasticity. A functional polymorphism [Val66Met (G196A)] in BDNF has been reported to modify cortical plasticity in humans. Physiologic investigations have revealed that dystonia might be a consequence of the pathologic plasticity of the sensorimotor cortex. We aimed to investigate the role of the Val66Met polymorphism in a cohort of Serbian patients with adult-onset primary focal and segmental dystonia (PTD). One hundred and forty-nine patients with primary adult-onset PTD, 194 patients with Parkinson’s disease (PD), and 366 healthy control subjects were recruited for the study. Patients with PTD and PD, as well as healthy controls had a similar distribution of genotypes and allele frequencies. There was no any significant difference in the allelic distribution at the Val66Met SNP of the BDNF gene among patients with adult-onset PTD, PD, and healthy volunteers from the same geographic areas. In addition, the presence of the Met allele did not influence the clinical characteristics of PTD patients. Patients with the Met variant did not differ by age at onset, number of affected regions, and efficacy of a sensory trick. Met66Met is not associated with an increased risk of dystonia. 相似文献
7.
Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics,counseling and risk prediction
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I. Parenti C. Gervasini J. Pozojevic K.S. Wendt E. Watrin J. Azzollini D. Braunholz K. Buiting A. Cereda H. Engels L. Garavelli R. Glazar B. Graffmann L. Larizza H.J. Lüdecke M. Mariani M. Masciadri J. Pié F.J. Ramos S. Russo A. Selicorni M. Stefanova T.M. Strom R. Werner J. Wierzba G. Zampino G. Gillessen‐Kaesbach D. Wieczorek F.J. Kaiser 《Clinical genetics》2016,89(5):564-573
Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one of the five cohesin‐related genes NIPBL, SMC1A, SMC3, RAD21 and HDAC8. Herein we report on the clinical and molecular characterization of 11 patients carrying 10 distinct variants in HDAC8. Given the high number of variants identified so far, we advise sequencing of HDAC8 as an indispensable part of the routine molecular diagnostic for patients with CdLS or CdLS‐overlapping features. The phenotype of our patients is very broad, whereas males tend to be more severely affected than females, who instead often present with less canonical CdLS features. The extensive clinical variability observed in the heterozygous females might be at least partially associated with a completely skewed X‐inactivation, observed in seven out of eight female patients. Our cohort also includes two affected siblings whose unaffected mother was found to be mosaic for the causative mutation inherited to both affected children. This further supports the urgent need for an integration of highly sensitive sequencing technology to allow an appropriate molecular diagnostic, genetic counseling and risk prediction. 相似文献
8.
Elka Popova 《Current Neuropharmacology》2014,12(6):509-526
In the vertebrate retina, visual signals are segregated into parallel ON and OFF pathways, which
provide information for light increments and decrements. The segregation is first evident at the level of the
ON and OFF bipolar cells and it apparently remains as signals propagate to higher brain visual centers. A
fundamental question in visual neuroscience is how these two parallel pathways function: are they
independent from each other or do they interact somehow? In the latter case, what kinds of mechanisms are
involved and what are the consequences from this cross-talk? This review summarizes current knowledge
about the types of interactions between the ON and OFF channels in nonmammalian and mammalian retina. Data
concerning the ON-OFF interactions in distal retina revealed by recording of single bipolar cell activity and
electroretinographic ON (b-wave) and OFF (d-wave) responses are presented. Special emphasis is put on the ON-OFF
interactions in proximal retina and their dependence on the state of light adaptation in mammalian retina. The involvement
of the GABAergic and glycinergic systems in the ON-OFF crosstalk is also discussed. 相似文献
9.
The current study presents the electron beam melting (EBM) efficiency of copper technogenic material with high impurity content (Se, Te, Pb, Bi, Sn, As, Sb, Zn, Ni, Ag, etc.) by means of thermodynamic analysis and experimental tests. On the basis of the calculated values of Gibbs free energy and the physical state of the impurity (liquid and gaseous), a thermodynamic assessment of the possible chemical interactions occurring in the Cu-Cu2O-Mex system in vacuum in the temperature range 1460–1800 K was made. The impact of the kinetic parameters (temperature and refining time) on the behaviour and the degree of removal of impurities was evaluated. Chemical and metallographic analysis of the obtained ingots is also discussed. 相似文献
10.
Marković Vladana Stanković Iva Petrović Igor Stojković Tanja Dragašević-Mišković Nataša Radovanović Saša Svetel Marina Stefanova Elka Kostić Vladimir 《Journal of neurology》2020,267(4):1127-1136
Journal of Neurology - Impulsive compulsive behaviors (ICBs) in Parkinson’s disease (PD) are debilitating disorders of repetitive, excessive, and compulsive nature affecting up to one third... 相似文献