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排序方式: 共有1191条查询结果,搜索用时 15 毫秒
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Maestri Michelangelo Romigi Andrea Schirru Alessandro Fabbrini Monica Gori Sara Bonuccelli Ubaldo Bonanni Enrica 《Sleep & breathing》2020,24(2):413-424
Sleep and Breathing - Excessive daytime sleepiness (EDS) and fatigue are some of the most frequent symptoms in neurological diseases and could impact on quality of life by increasing the risk of... 相似文献
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Concolino P Mello E Patrosso MC Penco S Zuppi C Capoluongo E 《Metabolism: clinical and experimental》2012,61(4):519-524
More than 90% of all cases of congenital adrenal hyperplasia (CAH) result from steroid 21-hydroxylase gene (CYP21A2) mutations. The CYP21A2 gene is located in the human leukocyte antigen (HLA) class III region on the short arm of chromosome 6p21.3, along with an inactive pseudogene, CYP21A1P, that is 98% homologous in its coding sequence with CYP21A2. Most CYP21A2 mutations result from intergenic recombinations between CYP21A2 and the closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for only 5% to 10% of 21-hydroxylase deficiency alleles. However, detection of these rare and spontaneous mutations has continued to expand worldwide. We identified 2 novel CYP21A2 missense mutations (p.H282N and p.Y191H) in 2 Italian patients with simple-virilizing and nonclassic CAH forms. Functional analysis of these CYP21A2 mutations was performed. Functional in vitro assay for mutagenized CYP21A2 enzymes was performed in transiently transfected mammalian cells to test the residual enzyme activity and the apparent kinetic values. The residual activities obtained allowed us to classify the p.H282N and p.Y191H variants as simple-virilizing and nonclassic CAH associated mutations, respectively. These results correlate with the rate of severity of the patients' disease. This finding provides a further contribution for assisting in the diagnosis of CAH patients. 相似文献
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Patrizia Aracri Alida Amadeo Maria Enrica Pasini Umberto Fascio Andrea Becchetti 《Synapse (New York, N.Y.)》2013,67(6):338-357
We studied how nicotinic acetylcholine receptors (nAChRs) regulate glutamate release in the secondary motor area (Fr2) of the dorsomedial murine prefrontal cortex, in the presence of steady agonist levels. Fr2 mediates response to behavioral situations that require immediate attention and is a candidate for generating seizures in the frontal epilepsies caused by mutant nAChRs. Morphological analysis showed a peculiar chemoarchitecture and laminar distribution of pyramidal cells and interneurons. Tonic application of 5 µM nicotine on Layer V pyramidal neurons strongly increased the frequency of spontaneous glutamatergic excitatory postsynaptic currents. The effect was inhibited by 1 µM dihydro‐β‐erythroidine (which blocks α4‐containing nAChRs) but not by 10 nM methyllicaconitine (which blocks α7‐containing receptors). Excitatory postsynaptic currents s were also stimulated by 5‐iodo‐3‐[2(S)‐azetidinylmethoxy]pyridine, selective for β2‐containing receptors, in a dihydro‐β‐erythroidine ‐sensitive way. We next studied the association of α4 with different populations of glutamatergic terminals, by using as markers the vesicular glutamate transporter type (VGLUT) 1 for corticocortical synapses and VGLUT2 for thalamocortical projecting fibers. Immunoblots showed higher expression of α4 in Fr2, as compared with the somatosensory cortex. Immunofluorescence showed intense VGLUT1 staining throughout the cortical layers, whereas VGLUT2 immunoreactivity displayed a more distinct laminar distribution. In Layer V, colocalization of α4 nAChR subunit with both VGLUT1 and VGLUT2 was considerably stronger in Fr2 than in somatosensory cortex. Thus, in Fr2, α4β2 nAChRs are expressed in both intrinsic and extrinsic glutamatergic terminals and give a major contribution to control glutamate release in Layer V, in the presence of tonic agonist levels. Synapse 00:000–000, 2013 . © 2013 Wiley Periodicals, Inc. 相似文献
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Ferrandina G Zannoni GF Petrillo M Vellone V Martinelli E Scambia G 《Pathology, research and practice》2007,203(4):217-220
Glassy cell carcinomas are composed of malignant cells showing a "ground glass" cytoplasm, distinct cell membranes, and large nuclei with prominent nucleoli. To our knowledge, only 12 cases of glassy cell endometrial carcinomas (EGCC) have been reported until now. A 63-year-old patient complaining of irregular vaginal bleeding underwent hysteroscopy-guided biopsy revealing a well-differentiated endometrial endometrioid adenocarcinoma. The patient underwent left salpingo-oophorectomy, total abdominal hysterectomy, and pelvic lymphadenectomy. The final diagnosis was FIGO stage IB poorly differentiated endometrial adenosquamous carcinoma with > 90% of glassy tumor cells. The patient is alive, with no evidence of disease for 69 months after diagnosis. We describe an additional case of EGCC and review the data of the literature, emphasizing the need to strictly define the criteria for the diagnosis and the potential usefulness of assessing biologic parameters for the prognostic characterization of this rare entity. 相似文献
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Laura Sebastiani Luigi D'Alessandro Danilo Menicucci Brunello Ghelarducci Enrica L Santarcangelo 《International journal of psychophysiology》2007,63(1):125-132
The cognitive characteristics of highly hypnotizable subjects (Highs) allow them to easily modify their cognitive and autonomic state. Under hypnosis, Highs receiving cognitive, fear-like stimulation exhibit the cardiovascular changes typical of fear/stress, but also show an EEG pattern indicating a balance between fear-induced arousal and hypnotic relaxation. Indeed, hypnosis is effective in the attenuation of both emotional experience and behaviour (emotional numbing). The aim of the present experiment was to investigate the possible different role of relaxation and suggestion in hypnotic emotional numbing. Tonic skin conductance, respirogram, heart rate, systolic and diastolic blood pressure were recorded in 3 groups of hypnotized subjects: Group 1 received a fearful guided imagery associated with threat suggestions (Threat) followed by the same fearful suggestion associated with numbing instructions (relaxation and "No-Threat"); Group 2 received the same instructions in the opposite order of presentation; Group 3 received the fearful suggestion with threat instructions twice. The numbing suggestion reduced fear-related emotional experience and autonomic responses; if No-Threat preceded Threat, the heart rate, heart rate variability and blood pressure were also reduced during Threat, in spite of self reports of high negative emotion. Thus, 1) the subjective experience and the autonomic response to fear can be dissociated; 2) the efficacy of numbing suggestion is extended to a subsequent Threat stimulation; 3) habituation does not contribute to the numbing effect. The results indicate that the specific numbing suggestion is the main factor in hypnotic modulation of the experience of fear. 相似文献
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Carli G Cavallaro FI Rendo CA Santarcangelo EL 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》2007,179(2):147-154
Postural control in subjects with high (Highs) and low (Lows) susceptibility to hypnosis is differentially affected by changes
in visual and neck tactile/proprioceptive input. The aim of the present experiment was to investigate whether imagery of the
visual and tactile sensory modalities also induces different modulation of postural control in Highs and Lows. Fourteen Highs
and 16 Lows were included in the study; they were recorded while standing upright with eyes closed during visual and tactile
imagery tasks and during mental computation. Their posture and movement were recorded with an Elite System and their experience
was assessed after each task in a structured interview. Visual imagery was judged “easier” than tactile imagery by Lows, while
Highs performed both tasks easily and judged the tactile imagery less effortful and more vivid than Lows. No difference was observed for the mental computation. The Highs’ body sway was not affected by the cognitive tasks, while
Lows showed a task-related modulation of body sway. The results are in line with the hypothesis of lower vulnerability of
Highs to the effects of tasks interfering with postural control and of different sensory-motor integration in Highs and Lows. 相似文献