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排序方式: 共有10000条查询结果,搜索用时 46 毫秒
191.
Alberto Falchetti Marco Di Stefano Francesca Marini Francesca Del Monte Carmelo Mavilia Debora Strigoli Maria L De Feo Giovan Isaia Laura Masi Antonietta Amedei Federica Cioppi Valentina Ghinoi Susanna Maddali Bongi Giuseppina Di Fede Carmela Sferrazza Giovan B Rini Daniela Melchiorre Marco Matucci-Cerinic Maria L Brandi 《Journal of bone and mineral research》2004,19(6):1013-1017
PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder. INTRODUCTION: Paget's disease of bone (PDB) is a relatively common disease of bone metabolism reported to affect up to 3% of whites over 55 years of age. The disorder is genetically heterogeneous, and at present, there is scientific evidence that at least eight different human chromosomal loci are correlated with its pathogenesis. Mutations of the sequestosome1 (SQSTM1) gene were identified as responsible for most of the sporadic and familial forms of Paget in patients of French Canadian and British descent. Such mutations were located at exon 7 and 8 levels, encoding for the ubiquitin protein-binding domain (UBA) and representing a mutational hot spot area. MATERIALS AND METHODS: To verify the involvement of this gene in Italian subjects affected by PDB, we performed mutational analysis in 62 sporadic PDB cases. RESULTS: We described three different mutations at exon 8 level: P392L, already described in the French Canadian population and families predominantly of British descendent, and two novel mutations consisting of the amino acid substitutions M404V and G425R. No significant differences in the clinical history of PDB have been observed in patients with SQSTM1 mutations in respect to those without. CONCLUSIONS: Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder. 相似文献
192.
†Francesco Mari Carlo Di Bonaventura ‡Nicola Vanacore Jinane Fattouch Anna Elisabetta Vaudano Gabriella Egeo †Alfredo Berardelli †Mario Manfredi Massimiliano Prencipe †Anna Teresa Giallonardo 《Epilepsia》2006,47(S5):64-67
Summary: Purpose: Psychogenic nonepileptic seizures (PNES) are episodes that may resemble epileptic seizures (ES) but are not associated with abnormal electrical discharges in the brain. Video-EEG recording of a typical episode is considered the best diagnostic tool available. PNES are, however, also documented in patients with epilepsy (PNES/ES). The purpose of this study was to assess this comorbid population, focusing on the differences between patients with PNES/ES and patients with PNES alone.
Methods: We reviewed 110 PNES episodes, occurring spontaneously or induced by means of suggestion techniques, recorded in our video-EEG laboratory over a period of eight years. We identified two subgroups of patients, consisting of 85 PNES cases and 25 PNES/ES cases, and assessed any differences in their characteristics by reviewing a number of variables (age, sex, clinical features, antiepileptic therapy, age of onset, time to diagnosis, pathological history, and length of follow-up).
Results: The comparison between the two subgroups revealed that PNES/ES patients displayed some statistically significant differences when compared with PNES alone patients, i.e., younger age, a higher percentage of spontaneously activated events, a shorter disease duration, a longer time to PNES diagnosis, and a lower percentage lost at follow-up.
Conclusions: This study confirms that PNES is a common, though probably underestimated, occurrence in epilepsy services. Our results shed light on some different characteristics between PNES and PNES/ES patients. 相似文献
Methods: We reviewed 110 PNES episodes, occurring spontaneously or induced by means of suggestion techniques, recorded in our video-EEG laboratory over a period of eight years. We identified two subgroups of patients, consisting of 85 PNES cases and 25 PNES/ES cases, and assessed any differences in their characteristics by reviewing a number of variables (age, sex, clinical features, antiepileptic therapy, age of onset, time to diagnosis, pathological history, and length of follow-up).
Results: The comparison between the two subgroups revealed that PNES/ES patients displayed some statistically significant differences when compared with PNES alone patients, i.e., younger age, a higher percentage of spontaneously activated events, a shorter disease duration, a longer time to PNES diagnosis, and a lower percentage lost at follow-up.
Conclusions: This study confirms that PNES is a common, though probably underestimated, occurrence in epilepsy services. Our results shed light on some different characteristics between PNES and PNES/ES patients. 相似文献
193.
194.
195.
S C Hill B M Damaska A Ling K Patterson A M Di Bisceglie R O Brady N W Barton 《Radiology》1992,184(2):561-566
Abdominal magnetic resonance imaging findings were reviewed in 46 patients with Gaucher disease. All patients had hepatosplenomegaly at the time of initial imaging. Splenic nodules were present in 14 patients (30%) and varied in signal intensity. These nodules were isointense on T1-weighted and hypointense on T2-weighted images. Splenic infarcts were seen in 15 patients (33%), and four of these patients (9%) also had subcapsular fluid collections. Both nodules and infarcts were present in the spleen in four patients (9%). Pathologic correlation was performed with specimens from two patients who underwent partial splenectomy. Focal areas of abnormal signal intensity were noted in the liver in nine patients (20%). They were either stellate or segmental, and may represent fibrotic septa with ischemic changes associated with aggregates of Gaucher cells. No changes were noted in the kidneys or abdominal lymph nodes. 相似文献
196.
M Panella G Mignemi C Gretter L Di Leo V F Guardalà G Garozzo 《Clinical and experimental obstetrics & gynecology》1992,19(1):25-29
We report a retrospective analysis of 1202 deliveries assisted by the same medical team, evaluating the clinical management of labour and the resulting type of delivery. Examination of the data revealed a gradual reduction in the number of deliveries treated pharmacologically accompanied by a reduction in the incidence of operative deliveries from 16% to 6%. Statistical analysis of the data using X2 test demonstrated a clear correlation between the administration of oxytocin and the incidence of operative deliveries (p less than or equal to 0.001). We believe that the indiscriminate use of oxytocin in labour should be avoided and that the pharmacological and operative management of labour requires precise clinical indications. 相似文献
197.
By synthesizing and testing a part-structure, N-[2-(3,4-dichlorophenyl)ethyl]-N-methyl-2-(1-pyrrolidinyl)ethylamine (3), derived from our previously reported high affinity sigma receptor ligands (1S,2R)-(-)-N-[2-(3,4-dichlorophenyl)-ethyl]-N-methyl-2-(1- pyrrolidinyl)cyclohexylamine [(-)-2] and (+)-2, we have identified a novel class of superpotent (subnanomolar affinity) sigma ligands specific for the sigma receptor labeled by [3H]-(+)-3-PPP. When 3 was tested for its capacity to displace [3H]-(+)-3-PPP from guinea pig brain membranes, it exhibited a Ki of 0.34 nM, which is better than either of its parent compounds (-)-2 (Ki = 1.3 nM) and (+)-2 (Ki = 6.0 nM). Other compounds related to 3 such as N-[2-(3,4-dichlorophenyl)ethyl]-N-methyl-2-(1-homopiperidinyl)ethy lamine (19) exhibited Ki = 0.17 nM [( 3H]-(+)-3-PPP). The determinants for high sigma receptor affinity of 3 were examined by manipulation of this structure in a number of different ways. The high efficacy of these compounds for the sigma receptor, their relative chemical simplicity and ease of synthesis, and their high degree of selective identifies N-[2-(3,4-dichlorophenyl)ethyl]-N-methyl-2-(1-pyrrolidinyl)ethylamine (3) and related compounds as a highly promising base for determination of the functional role of sigma receptors as well as the development of novel therapeutic agents. 相似文献
198.
Catalina Betancur Carmen Sandi Sergio Vitiello Jos Borrell Carmen Guaza Pierre J. Neveu 《Brain research》1992,589(2):302-306
Asymmetry in brain modulation of the immune system has been previously described. In mice, paw preference has been shown to be associated with immune reactivity but the mechanisms involved in such an association are not yet known. The autonomic nervous system and the neuroendocrine system are considered as major candidates for neural influences on the immune system. In the present study, the activity of the hypothalamic-pituitary-adrenal (HPA) axis of adult female mice selected for paw preference (left-handers vs. right-handers) was assessed by measuring both adrenocorticotropic hormone (ACTH) and corticosterone plasma levels, as well as the in vitro responses of hypothalamus and adrenocortical cells to various hormone releasing stimuli. The results reported here showed no difference in the activity of the HPA axis between left- and right-handed mice, suggesting that this neuroendocrine axis is not implicated in the association between functional brain asymmetry and immune reactivity. However, our results do not exclude the possibility that the HPA axis could play a role in such an association under other circumstances, such as during development or stressful situations. 相似文献
199.
M Longobardi A Bargagna E Mariani P Schenone S Vitagliano L Stella A Di Sarno E Marmo 《Il Farmaco; edizione pratica》1990,45(4):399-404
The synthesis of some N,N-disubstituted 4-amino-5,6-dihydro-3-phenyl-2H-[1]benzothiepino [5,4-b]pyran-2-ones by reaction of phenylchloroketene with a series of N,N-disubstituted (E)-4-aminomethylene-3,4-dihydro-1-benzothiepin-5(2H)-ones, followed by dehydrochlorination of the primary adducts with DBN, is described. The 4-methylphenylamino derivative showed a local anesthetic activity in mice superior to that of lidocaine and the 4-morpholino derivative showed an antiarrhythmic activity in rats comparable to that of quinidine. 相似文献
200.
The octadecyl rhodamine (R18) fluorescent dequenching assay was used to examine membrane fusion between mumps virus and mammalian cells. Rapid fluorescent dequenching, indicative of membrane fusion, was observed when labeled mumps virus was mixed with either ghost erythrocytes or CV-1 cells. After 15 min a saturation limit of 18 virus per erythrocyte ghost and 6400 virus per CV-1 cell was observed. Fetuin was found to inhibit virus fusion, suggesting a role for sialic acid in virus binding to the cells. Two dequenching processes were observed of which the faster process is thought to be membrane fusion and the second process is thought to be probe proximal transfer. 相似文献