Search results for "nervous system diseases"
showing 10 items of 539 documents
The neuropsychology of variant CJD: a comparative study with inherited and sporadic forms of prion disease.
2005
Objective: To assess cognitive function in variant Creutzfeldt-Jakob disease (vCJD). We describe the neuropsychological profiles of 10 cases and compare these data with cross sectional data obtained from patients with histologically confirmed sporadic CJD and cases with inherited prion disease with confirmed mutations in the prion protein gene. Methods: Patients referred to the Specialist Cognitive Disorders Clinic at the National Hospital for Neurology and Neurosurgery and the National Prion Clinic at St Mary's Hospital, London for further investigation of suspected CJD were recruited into the study. The neuropsychological test battery evaluated general intelligence, visual and verbal memo…
Late-Emerging and Resolving Dyslexia
2015
This study focuses on the stability of dyslexia status from Grade 2 to Grade 8 in four groups: (a) no dyslexia in either grade (no-dyslexia, n = 127); (b) no dyslexia in Grade 2 but dyslexia in Grade 8 (late-emerging, n = 18); (c) dyslexia in Grade 2 but not in Grade 8 (resolving, n = 15); and (d) dyslexia in both grades (persistent-dyslexia, n = 22). We examined group differences from age 3.5 to age 14 in (a) reading, vocabulary, phonology, letter knowledge, rapid naming, IQ, verbal memory; (b) familial and environmental risk and supportive factors; and (c) parental skills in reading, phonology, rapid naming, verbal memory, and vocabulary. Our findings showed group differences both in read…
Differential expression of the tumor suppressor A-kinase anchor protein 12 in human diffuse and pilocytic astrocytomas is regulated by promoter methy…
2013
The scaffold protein A-kinase anchor protein 12 (AKAP12) exerts tumor suppressor activity and is downregulated in several tumor entities. We characterized AKAP12 expression and regulation in astrocytomas, including pilocytic and diffusely infiltrating astrocytomas. We examined 194 human gliomas and 23 normal brain white matter samples by immunohistochemistry or immunoblotting for AKAP12 expression. We further performed quantitative methylation analysis of the AKAP12 promoter by MassARRAY® of normal brain, World Health Organization (WHO) grade I to IV astrocytomas, and glioma cell lines. Our results show that AKAP12 is expressed in a perivascular distribution in normal CNS, strongly upregula…
Vestibular Decruitment
1993
Torok studied the ratio obtained between the responses to two different heat stimulation intensities of the same temperature. A decrease in response to the strong stimulus (i.e., a diminished ratio) was called "vestibular decruitment," and was regarded as a topodiagnostic indicator of central vestibular lesion, reflecting "adaptation" or "fatigue." The authors studied the reliability of vestibular decruitment obtained by Torok's technique in the indication of central vestibular pathology. Twenty-eight normal individuals and 30 patients previously diagnosed by other methods with diffuse pathology of the central nervous system were evaluated. The results obtained show that the two stimuli use…
DNA-fragmentation and apoptosis-related proteins of muscle cells in motor neuron disorders
2009
Apoptosis has been described as one of the mechanisms of muscle fiber loss in infantile spinal muscular atrophy. In order to investigate if muscle fiber-apoptosis plays a role in other denervating disorders as well, we studied DNA-fragmentation, a hallmark of apoptosis, by the TUNEL-method and, moreover, the expression patterns of apoptosis-related proteins in 2 patients suffering from ALS and in 6 patients with polyneuropathy. We identified DNA-cleavage in muscle fibers of all these patients. Furthermore, we found strong expression of bax and ICE promoting apoptosis in muscle fibers. However, also strong expression of the anti-apoptotic factor bcl-2 was found. Our findings indicate that de…
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset
2020
[Objective] To describe the characteristics of patients with very-late-onset myasthenia gravis (MG).
Apoptosis-related Proteins in Skeletal Muscle Fibers of Spinal Muscular Atrophy
1997
There is evidence that apoptosis in spinal muscular atrophies (SMA) is not restricted to motor neurons but also affects muscle fibers. Studying the expression of several apoptosis-associated proteins we found constant expression of bax in muscle fibers, which promoted cell death. The expression of bax correlated with defective innervation of muscle fibers was also indicated by upregulation of N-CAM. While in early-onset SMA atrophic as well as normo- and hypertrophic muscle fibers displayed expression of bax, muscle fibers in late-onset SMA and peripheral neuropathies showed bax-expression only in atrophic fibers. Other investigated apoptosis-associated factors comprised interleukin-1 beta …
Attrition and Use of Proxy Respondents and Auxiliary Information in the Sicilian Neuroepidemiologic Study
1994
Two-phase prevalence surveys with screening (phase 1) and examination (phase 2) are useful for some chronic diseases. Attrition, which may bias estimates, occurs in either phase because some eligible subjects die before contact, some refuse to cooperate, some are incapacitated, and some are unreachable. This investigation relates to a survey of neurologic diseases conducted in three municipalities of Sicily (prevalence date, November 1, 1987) and considers the attrition experienced and the use of proxy respondents in phase 1 and auxiliary information in phase 2 to offset, in part, this attrition. Regarding case finding, the salvage effort was more productive for decreased and incapacitated …
Analysis of risk factors for neurological dysfunction in patients with acute aortic dissection type A: data from the German Registry for Acute Aortic…
2012
OBJECTIVES: Acute aortic dissection type A (AADA) is associated with major adverse events, such as transient or persistent neurological dysfunction (ND), which may be patient-, disease- or surgery-related. There is a lack of consensus regarding risk factors for ND in AADA patients. The aim of this study was to analyse and identify risk factors for new postoperative ND after aortic repair for AADA. METHODS: Between July 2006 and June 2010, 2137 AADA patients were enrolled in the multi-centre, prospective German Registry of AADA (GERAADA). Perioperative data were prospectively gathered from 50 institutes in Austria, Switzerland and Germany, and multivariate logistic regression analysis was pe…
Phantom Limb Pain in Daily Practice—Still a Lot of Work to Do!
2012
Objectives. Effective treatment of phantom limb pain (PLP, pain felt in the part of the body of an amputated limb) is still difficult to achieve, and improved treatment is needed. It is therefore of paramount interest to understand the current practice of PLP therapy outside pain centers. Design. As a part of a nationwide survey, 537 amputees were asked 11 questions related to their treatment experiences and the pain relief. Furthermore, the patients' opinion about the quality of medical care was also asked. Results. Five hundred thirty-seven out of 1088 amputees returned the questionnaire (49.4%). Four hundred (74.5%) suffered from PLP. The patients rated their caregivers' knowledge about …