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701.
Blunt cerebrovascular injuries (BCVI) carry significant morbidity if not diagnosed and treated early. A high index of clinical suspicion is needed to recognize the injury patterns associated with this condition and to order the requisite imaging studies needed to diagnose it accurately. We report of BCVI associated with a congenital cervical spine malformation after blunt trauma. We recommend inclusion of cervical spine malformations to the current Eastern Association for the Surgery of Trauma screening criteria for BCVI and explain our rationale for the same. 相似文献
702.
Dileone M Zampino G Profice P Pilato F Leoni C Ranieri F Capone F Tartaglia M Brown P Di Lazzaro V 《Parkinsonism & related disorders》2012,18(6):798-800
BackgroundCostello Syndrome is a rare multiple congenital anomaly disorder caused by de novo heterozygous mutations in the v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) gene. Recent studies seem to support apparent autosomal dominant inheritance and somatic mosaicism and an association with advanced parental age. Abnormal hand posture has been reported as a typical feature of Costello Syndrome but the pathophysiology of this is unclear.MethodsWe evaluated and described posture and movement in six consecutive subjects with genetically proven Costello Syndrome, in order to better characterize the phenomenology of the associated postural abnormalities and any related motor abnormalities. We also evaluated motor cortex plasticity by applying Paired Associative Stimulation.ResultsAll the patients presented the typical postural abnormalities reported in Costello Syndrome, in particular the ulnar deviation of fingers. The latter was reducible and not fixed. In addition, patients exhibited more explicit dystonic features of the face, limbs and trunk and altered sensorimotor plasticity consistent with generalized dystonia.ConclusionsThese findings suggest that dystonia may underlie the abnormal postures described in Costello Syndrome patients. 相似文献
703.
704.
Doulazmi M Capone F Frederic F Bakouche J Boukhtouche J Lemaigre-Dubreuil Y Mariani J 《Journal of neurogenetics》2006,20(1-2):1-17
The staggerer (sg) mutation is a spontaneous deletion in the Rora gene that prevents the translation of the ligand-binding domain (LBD), leading to the loss of RORalpha activity. The homozygous Rorasg/sg mutant mouse, whose most obvious phenotype is ataxia associated with cerebellar degeneration, also displays a variety of other phenotypes. The heterozygous Rora+/sg is able to develop a cerebellum that is qualitatively normal but which suffers a significant loss of cerebellar neuronal cells with advancing age. A truncated protein synthesized by the mutated allele may play a role both in Rorasg/sg and Rora+/sg. To determine the effects during life span of true haplo-insufficiency of the RORalpha protein, derived from the invalidation of the gene, we compared the evolution of Purkinje cell numbers in heterozygous Rora knock-out males (Rora+/-) and in their wild-type counterparts from 1 to 24 months of age. We also compared the evolution of Purkinje cell (PC) numbers in Rora+/- and Rora+/sg males from 1 to 9 months. The main finding is that in Rora+/- mice, for which only one-half the normal amount of protein is produced, the deficit was established as early as 1 month and did not change during the animals' adult lifespans. Thus, the effects of aging on PC number were apparent much earlier in Rora+/- than in Rora+/sg, although at 24 months of age the degrees of deficit were similar. 相似文献
705.
Gennaro Capone Giuseppe Maria Della Pepa Giovanni Sabatino Elena Bartoccioni Alessio Albanese Stefano Mannino Giulio Maira 《Journal of clinical neuroscience》2009,16(7):977-980
We report a rare bone–leptomeningeal metastasis from an adrenal cortical carcinoma (ACC). ACC is a rare malignancy and represents one of the most unusual sources of intracranial metastases (0–0.2%); the localization to the skull bone and meninges is uncommon. A 45-year-old man underwent surgery for a non-functioning ACC; 4 months later he developed a soft left frontal mass. The CT scans and MRI showed a large tumor with bone and leptomeningeal involvement. Despite chemotherapy, the lesion increased in volume, which led to local pain and right hemiparesis. Thus, the patient underwent excision of the mass; histopathological diagnosis confirmed that it was an ACC metastasis. The patient underwent standard radiation therapy after surgery. At post-operative follow-up, the patient was in a good neurological condition with no radiological evidence of a cranial recurrence; however, there was a voluminous abdominal regrowth of the primary tumor. To our knowledge, this is the second case of bone and leptomeningeal metastasis arising from an ACC. This patient report confirms the effectiveness of aggressive surgery for management of large intracranial metastases, particularly those that arise from primary tumors that are resistant to radiotherapy and chemotherapy. In our opinion, surgery represents the most appropriate treatment for voluminous intracranial metastasis – even when there are no neurological signs. 相似文献
706.
707.
Paternoster G Massimi L Capone G Tamburrini G Caldarelli M Di Rocco C 《Child's nervous system》2012,28(2):287-290
Purpose
Epidural blood patch (EBP) represents one of the best nonsurgical treatment for intracranial hypotension syndrome. Orthostatic headache caused by reduced intracranial cerebrospinal fluid (CSF) pressure, like in “spontaneous” intracranial hypotension or as consequence of lumbar puncture or anesthesiological procedure, can be managed with the injection of autologous blood on the epidural space with a successful rate of 89%, increased to 97% after a second application. 相似文献708.
Oster-Granite ML Parisi MA Abbeduto L Berlin DS Bodine C Bynum D Capone G Collier E Hall D Kaeser L Kaufmann P Krischer J Livingston M McCabe LL Pace J Pfenninger K Rasmussen SA Reeves RH Rubinstein Y Sherman S Terry SF Whitten MS Williams S McCabe ER Maddox YT 《Molecular genetics and metabolism》2011,104(1-2):13-22
A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. 相似文献
709.
Sciulli MG Renda G Capone ML Tacconelli S Ricciotti E Manarini S Evangelista V Rebuzzi A Patrignani P 《Clinical pharmacology and therapeutics》2006,80(2):115-125
BACKGROUND AND OBJECTIVES: Complete and persistent suppression of platelet thromboxane (TX) A(2) biosynthesis by aspirin is mandatory to fulfill its cardioprotection. We explored the determinants of heterogeneity of TXB2 generation in clotting whole blood, a capacity index of platelet cyclooxygenase (COX) activity, in patients with coronary heart disease (CHD) versus healthy subjects treated with low-dose aspirin on a long-term basis. METHODS: We studied 30 patients with CHD (ie, chronic stable angina, unstable angina, and acute myocardial infarction) and 10 healthy subjects, who were treated with low-dose aspirin (100 mg daily) on a long-term basis, 12 hours after the administration of 160 mg aspirin to ensure saturation of platelet COX-1 activity. Serum TXB2 levels were assessed. The contribution of blood COX-2 to TXA2 biosynthesis was explored by evaluation of the effect of a selective COX-2 inhibitor (L-745,337) added to heparinized whole blood stimulated with Ca++ ionophore A23187 (20 micromol/L) for 1 hour or lipopolysaccharide (0.1 microg/mL) for 4 hours. RESULTS: In healthy subjects serum TXB2 levels ranged from 0.6 to 7.9 ng/mL (median, 2.1 ng/mL; mean +/- SD, 3.2 +/- 2.6 ng/mL). In CHD patients we detected enhanced variability in serum TXB2 generation (median, 3.1 ng/mL [range, 0.15-47 ng/mL]; mean, 8.5 +/- 12.3 ng/mL), which in 8 patients (27%) exceeded the mean value + 2 SDs detected in healthy subjects (ie, 8.4 ng/mL), set as the limit value for an adequate inhibition of platelet COX-1 by aspirin. Elevated whole-blood TXB2 generation was not dependent on leukocyte count, COX-2 activity, or cigarette smoking but was plausibly a result of defective suppression of platelet COX-1 activity. CONCLUSIONS: Heterogeneity in the suppression of platelet COX-1 activity by aspirin occurred in CHD patients. The measurement of the serum TXB2 level seems to be an appropriate biomarker to identify patients who have an inadequate inhibition of platelet COX-1 activity by aspirin. 相似文献
710.
Giovanni Tarantino Vincenzo Citro Paolo Conca Antonio Riccio Marianna Tarantino Domenico Capone Michele Cirillo Roberto Lobello Vittorio Iaccarino 《BMC gastroenterology》2009,9(1):89