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61.
Marcelo Miranda MD Claudia Castiglioni MD Beat M. Frey MD Martin Hergersberg PhD Adrian Danek MD Hans H. Jung MD 《Movement disorders》2007,22(9):1358-1361
The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society 相似文献
62.
Matthias Siepe Claudia Heilmann Patrick von Samson Philippe Menasché Friedhelm Beyersdorf 《European journal of cardio-thoracic surgery》2005,28(2):318-324
Several human organs are not capable of functional regeneration following a tissue defect and react with scar formation. In stem cell transplantation, undifferentiated or partly differentiated precursor cells are applied to defective tissue for therapeutic regeneration. After promising preclinical investigations, the transplantation of autologous stem cells for myocardial infarction treatment is being transferred to clinical use. Mesenchymal stem cells and endothelial precursor cells derived from the bone marrow or circulating blood as well as skeletal myoblasts are employed in clinical trials. Furthermore, indications for cell transplantation and delivery routes vary considerably throughout current investigations. Initial results suggest a potential for restoration of cardiac function in stem cell-treated patients; however, the mechanisms are not fully understood. This overview will focus on objectives, recent achievements, and future perspectives of diverse stem cell transplantation approaches. 相似文献
63.
Ramirez Claudia C. MD Ma Fangchao MD PhD Federman Daniel G. MD † Kirsner Robert S. MD PhD ‡§ 《Dermatologic surgery》2005,31(7):748-753
Background Results from in vitro and animal studies suggest that cyclooxygenase (COX) inhibitors may reduce the risk of melanoma, but among humans, the evidence remains limited.
Objective In a pilot retrospective cohort, to determine the relationship between the use of COX inhibitors and the incidence, recurrence, and metastases of melanoma in high-risk patients.
Methods Reviewing computerized records at the Miami Veterans Affairs Medical Center, we retrospectively examined the association between COX inhibitor use and melanoma incidence, recurrence, and metastases in high-risk subjects: white subjects previously diagnosed with melanoma (1996–2003). We evaluated three potential outcomes: new melanoma diagnosis, recurrence of a previous melanoma, and melanoma metastasis.
Results Eighty-three subjects with melanoma were included. There was one metastasis among 28 subjects prescribed COX inhibitors, whereas four new melanomas (7.3%), two melanoma recurrences, and six metastases (10.9%) occurred among 55 patients not prescribed COX inhibitors. Although no individual outcomes measures reached statistical significance, combining the three measures, these were significantly lower in users of COX inhibitors compared with nonusers (1 vs 12; p = .05 ). After adjustment for age and tumor depth of invasion, COX inhibitor users had significantly lower rates of melanoma outcome measures (odds ratio 0.08; 95% confidence interval 0.01–0.77; p = .03 ).
Conclusion Potential exists for chemoprevention of melanoma among high-risk patients. 相似文献
Objective In a pilot retrospective cohort, to determine the relationship between the use of COX inhibitors and the incidence, recurrence, and metastases of melanoma in high-risk patients.
Methods Reviewing computerized records at the Miami Veterans Affairs Medical Center, we retrospectively examined the association between COX inhibitor use and melanoma incidence, recurrence, and metastases in high-risk subjects: white subjects previously diagnosed with melanoma (1996–2003). We evaluated three potential outcomes: new melanoma diagnosis, recurrence of a previous melanoma, and melanoma metastasis.
Results Eighty-three subjects with melanoma were included. There was one metastasis among 28 subjects prescribed COX inhibitors, whereas four new melanomas (7.3%), two melanoma recurrences, and six metastases (10.9%) occurred among 55 patients not prescribed COX inhibitors. Although no individual outcomes measures reached statistical significance, combining the three measures, these were significantly lower in users of COX inhibitors compared with nonusers (1 vs 12; p = .05 ). After adjustment for age and tumor depth of invasion, COX inhibitor users had significantly lower rates of melanoma outcome measures (odds ratio 0.08; 95% confidence interval 0.01–0.77; p = .03 ).
Conclusion Potential exists for chemoprevention of melanoma among high-risk patients. 相似文献
64.
Rosa van Mourik Jaap Oosterlaan Dirk J Heslenfeld Claudia E Konig Joseph A Sergeant 《Clinical neurophysiology》2007,118(8):1855-1865
OBJECTIVE: Although an increased distractibility is one of the behavioral criteria of Attention Deficit Hyperactivity Disorder (ADHD), there is little empirical evidence that children with ADHD are in fact more distractible than their normal peers. METHODS: We recorded event-related potentials (ERPs) to distracting novel sounds (novels) and standard sounds, (standards) while children performed a visual two-choice reaction time task. Twenty-five children with ADHD were compared with eighteen normal controls (aged 8-12 years). RESULTS: Children with ADHD showed a larger early P3a (150-250 ms), both in response to the standard and in response to the novel. The late phase of the P3a had a larger amplitude in the ADHD group in the 250-300 ms window compared to the control group, which was only present in response to the novel. Interestingly, the novel reduced the errors of omission in the ADHD group to a greater extent than in the normal control group. CONCLUSIONS: Although children with ADHD show an increased orienting response to novels, this distracting information can enhance their performance temporarily, possibly by increasing their arousal to an optimal level, as indicated by the reduced omission rate. SIGNIFICANCE: These data indicate that distraction is not always distracting in children with ADHD and that distraction can also have beneficial effects. 相似文献
65.
S. Matà S. Corzani R. Biagiotti S. Piacentini G. Siracusa M. G. Giudizi M. D. Mastio W. Borsini R. Taiuti A. Vultaggio S. Sorbi E. Maggi 《European journal of neurology》2007,14(10):1147-1153
Autoimmune mechanisms are postulated to play a role in the development and progression of dysimmune neuropathies (DN). We investigated the relation between lymphocyte number and marker expression, and disease activity in 20 patients with DN under intravenous immunoglobulins (IVIg) treatment. B- and T-lymphocyte markers were studied by flow cytometry of the expression of CD5, CD25, CD23 and CD38 markers on B cells and of CD3, CD4 and CD8 markers, respectively. These parameters were compared with those obtained from matched healthy volunteers. The proportions of CD38+ B cells were higher in patients compared with those of controls. Proportions of activated CD4+ and CD8+ T cells were comparable in peripheral blood mononuclear cells of patients and controls, but a significant reduction of the absolute numbers of CD3+, CD4+ and CD8+ cells were observed in DN patients. The percentages of CD25+ memory T cells were instead significantly increased in DN patients. Lastly, T-cell reduction and the CD19/CD38 ratio over total B (CD19+) cells directly correlated with a poor response to IVIg therapy. In DN, whereas T-cell number is reduced, activated T and B cells are increased, thus suggesting an intrinsic defect of the immune response. 相似文献
66.
Davicino Roberto Patricia Micucci Turner Sebastian Ferraro Graciela Claudia Anesini 《Basic & clinical pharmacology & toxicology》2010,106(1):38-44
Abstract: Limonene is a monoterpene present in citrus fruit and is used as flavouring agents of foods. It was shown that monoterpenes possess antioxidant activity. Previously, it was demonstrated that limonene exerts anti‐proliferative action on a lymphoma cell line without modifying normal lymphocyte viability. H2O2 has a modulator role in cell proliferation. In the present study, the effect of limonene on normal lymphocytes proliferation and its relation with H2O2 level modulation was analysed, evaluating its effect on the activity of cell antioxidant enzymes, such as catalase, peroxidase and superoxide dismutase. Limonene exerted a biphasic effect on cell proliferation; the increase in cell proliferation was related to the decrease in H2O2 level by the increase in catalase and peroxidase activities. Moreover, limonene protected the cells to the oxidative stress induced by exogenous addition of H2O2. In view of these results, it is possible that limonene could protect normal lymphocytes from diseases related to oxidative stress, including cancer, but further research is necessary to establish the role of limonene as a potential antioxidant that can effectively protect lymphocytes from oxidative stress and mitochondrial dysfunction. 相似文献
67.
Resection and radical lymphadenectomy for lung cancer: prognostic significance of lymphatic metastases 总被引:1,自引:0,他引:1
From 1979 to 1987, 1103 thoracotomies were performed in patients with lung cancer: 824 (74.7%) radical resections, 141 (12.7%) palliative resections and 138 (12.5%) exploratory thoracotomies. Among the 965 patients who underwent resection, 539 patients were N0, 190 patients N1 and 236 patients N2. Among patients with N1 disease we observed more frequent hilar metastases in the more advanced tumors (p less than 0.05). In 84 out of the 232 N2 patients (36.2%; 13.4% of all patients) a skipping of all pulmonary sites was observed. The most commonly invaded mediastinal levels were the paratracheal nodes on the right and the aortic nodes on the left, followed by the subcarinal nodes. The greater the neoplastic involvement of pulmonary nodal sites, the higher the percentage of patients with N2 disease and the number of mediastinal levels with tumor cells (p less than 0.05). The 5-year survival rate is 60% for N0, 46% for N1 and 23% for N2 disease. There is no significant difference in survival between N2 and N1 + N2 patients. Metastatic involvement of both upper and lower mediastinal levels carries a poorer prognosis compared to involvement of one compartment only (p less than 0.02). Patients with findings of mediastinal metastatic involvement should be selected: studies on lymphatic metastases are useful to better establish surgical indications for N2 patients. 相似文献
68.
Alexander Marcus Claudia Ammermann Marianne Klein Martin H. Schmidt 《European child & adolescent psychiatry》1995,4(1):46-54
Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism. The corresponding gene locus has been localized on the long arm of chromosome 13. Three different clinical variants of the disease can be distinguished: hepato-cerebral, abdominal/hepatic, and central nervous type. The heterogeneity of symptoms can cause problems in differential diagnosis, especially when another concordant disorder can also explain the pathogenesis of symptoms. The case report of a young man who suffered from brainstem contusion demonstrates the possibilities of misinterpretation because presenting symptoms could be attributed either to traumatic brain injury followed by adjustment disorder or Wilson's disease. Clinical signs included leftsided hemiparesis, bilateral gaze direction nystagmus, marked dysarthria with consecutive pervasive mutism, choreo-athetoid movements, spasmodic torticollis and diplopia dependent on gaze direction. Slit lamp examination showed Kayser-Fleischer's corneal ring. EEG- and computer assisted tomography investigations revealed non-specific findings. The patient was treated with D-Penicillamine. Alternative treatment with oral zinc preparations is discussed.
Zusammenfassung Beim Morbus Wilson handelt es sich um eine autosomal rezessiv vererbte Störung des Kupferstoffwechsels. Der Genort konnte auf dem langen Arm des Chromosoms 13 lokalisiert werden. Klinisch können aufgrund ihrer Symptomatik drei Verlaufsformen (hepato-zerebraler, abdominalhepatischer und zerebraler Typ) unterschieden werden. Die Vielfalt der Symptome kann differentialdiagnostische Schwierigkeiten bereiten. Das Beispiel eines jungen Mannes mit einer traumatischen Hirnstammkontusion zeigt, wie die Diagnose der hepato-lentikulären Erkrankung dadurch erschwert wurde, daß die Pathogenese der Symptome durch die Hirnstammkontusion und darauf folgende Anpassungsstörungen erklärt worden war. Die Symptomatik bestand aus linksseitiger Hemiparese, lateralem Blickrichtungsnystagmus, Dysarthrie mit nachfolgendem universalem Mutismus, choreo-athetodischen Bewegungsstörungen, Torticollis spasmoidicus und blickrichtungsabhängigem Auftreten von Doppelbildern. Bei der Spaltlampenuntersuchung stellte sich der Kayser-Fleischer Ring dar. EEG- und computertomographische Untersuchungen erbrachten nur unspezifische Befunde. Die Behandlung erfolgte mit D-Penicillamin. Die alternative Behandlung mit oraler Gabe von Zinksalzen wird diskutiert.
Résumé La maladie de Wilson est une affection héréditaire autosomale recessive concernant le métabolisme cuivré. Le locus du gène a été situé sur le bras long du chromosome 13. Du point de vue clinique on distingue trois formes symptomatologiques: le type hepato-cérébral, hepato-abdominal et cérébral. La diversité des signes cliniques peut poser des problèmes de diagnostic différentiel, car d'autres affections peuvent se présenter avec cette même Symptomatologie. Nous rapportons ici l'exemple d'un homme jeune, porteur d'une maladie de Wilson et victime d'une contusion traumatique du tronc cérébral, dont les signes cliniques ainsi que les troubles du comportement pouvaient été autant rapportés à la contusion du tronc cérébral qu'à l'affection métabolique.La Symptomatologie comprenait une hemiparesie gauche, un nystagmus lateralisé, une dysarthrie avec mutisme secondaire universel, des mouvements choréo-athétosiques, un torticolis spasmodique et une diplopie dépendante de la direction du regard. L'examen à la lampe à fente permettait à mettre en evidence un anneau de Kayser Fleischer. L'EEG et le scanner cérébral ne montraient pas d'anomalies specifique.Le traitement a consisté en l'administration de D-Penicillamine. Traitment alternative avec les sels de zinc est discuté.相似文献
69.
Low day 3 luteinizing hormone values are predictive of reduced response to ovarian stimulation 总被引:7,自引:4,他引:3
Noci I; Biagiotti R; Maggi M; Ricci F; Cinotti A; Scarselli G 《Human reproduction (Oxford, England)》1998,13(3):531-534
The aim of the present work was to evaluate whether low day 3 luteinizing
hormone (LH) values in the presence of normal follicle stimulating hormone
(FSH) are predictive of poor response to ovarian stimulation. Two groups of
women undergoing ovarian stimulation and differing only in the day 3 LH
concentration (<3 mIU/ml, study group, n=30; >3 mIU/ml, control
group, n=45) were retrospectively analysed. Study group patients developed
a lower oestradiol peak (703+/-388 versus 955+/-400 ng/ml; P = 0.005) and a
lower number of follicles >15 mm diameter at the time of human chorionic
gonadotrophin (HCG) administration (2.6+/-1.3 versus 3.6+/-1.8; P=0.004)
than the control group. Conversely, a similar ratio of oestradiol:
follicles >15 mm diameter was observed (256+/-118 versus 269+/-93;
P=0.563). The number of follicles >10 mm at the time of HCG
administration appeared to be lower in the study group, but this difference
was not statistically significant (6+/-3.9 versus 7.8+/-4.3). Our data
indicate that day 3 LH values <3 mIU/ml are predictive of poor response
to ovarian stimulation.
相似文献
70.
Hans Brunner Thomas C Wetter Birgit Hogl Alexander Yassouridis Claudia Trenkwalder Elisabeth Friess 《Movement disorders》2002,17(5):928-933
We investigated non-rapid eye movement (non-REM) sleep in patients with newly diagnosed Parkinson's disease (PD) who had never previously received dopaminergic medication. There were no significant differences in the conventional sleep parameters between de novo patients with PD and a healthy control group, but the length of stage 1 sleep and the number of awakenings increased significantly upon administration of dopaminergic drugs. Analyzing the quantitative electroencephalogram (EEG), we observed a significant reduction in the low-delta frequency range and a nonsignificant increase in the sigma frequency range in de novo patients with PD. The dopaminergic medication also nonsignificantly reduced the low-delta and sigma frequencies, the latter to the level of the controls. Possible mechanisms that may account for the observed differences are discussed. It is suggested that Parkinson's disease as well as the application of dopaminergic drugs exerts a desynchronizing effect on the sleep EEG that is reflected in a disruption of sleep continuity. 相似文献