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131.
Aglaia Vignoli Lucio Giordano Daniela Guerra Francesca La Briola Patrizia Accorsi Miriam Nella Savini Alessandro Iodice Anna Molinaro Maria Paola Canevini 《Epileptic Disord》2014,16(4):433-438
Since the first cases of abnormal paroxystic movements in normal infants were described, the importance of accurate characterization of this medical condition has been increasingly confirmed in the literature. Non‐epileptic attacks mimic epileptic paroxysms in clinical presentation, but they have a typically benign course and are unresponsive to pharmacological treatment. An evident feature of the syndrome is its extreme variability in clinical manifestation. Here, we describe three normal infants with two similar forms of non‐epileptic paroxysms. Electroclinical manifestations and profile of evolution were investigated. Ictal video‐EEG polygraphic recordings were obtained for each patient. The increasing number of such reported clinical cases in the literature may contribute to high quality systematic reviews and the development of useful guidelines in the future. The clinical heterogeneity of non‐epileptic attacks, together with the relative rarity of the condition, may make differential diagnosis with epileptic attacks very challenging. [Published with video sequences] 相似文献
132.
Giulia Camuri Lucio Oldani Beatrice Benatti Licia Lietti Carlotta Palazzo 《International journal of psychiatry in clinical practice》2014,18(4):248-254
Objective. Generalized anxiety disorder (GAD) and panic disorder (PD) are disabling conditions, often comorbid with other anxiety disorders. The present study was aimed to assess prevalence and related disability of comorbid social phobia (SP) and obsessive–compulsive disorder (OCD) in 115 patients with GAD (57) or PD (58). Methods. Patients were classified as having threshold, subthreshold, or no comorbidity, and related prevalence rates, as well as disability (Sheehan Disability Scale, SDS), were compared across diagnostic subgroups. Results. SP and OCD comorbidities were present in 30.4% of the sample, with subthreshold comorbidities present at twice the rate of threshold ones (22.6% vs. 11.3%). Compared with GAD patients, PD patients showed significantly higher subthreshold and threshold comorbidity rates (27.6% and 13.8% vs. 17.5% and 8.8%, respectively). Comorbid PD patients had higher SDS scores than the comorbid and non-comorbid GAD subjects. The presence of threshold SP comorbidity was associated with the highest SDS scores. Conclusions. SP and OCD comorbidities were found to be prevalent and disabling among GAD and PD patients, with higher subthreshold than threshold rates, and a negative impact on quality of life. Present findings stress the importance of a dimensional approach to anxiety disorders, the presence of threshold and subthreshold comorbidity being the rule rather than the exception. 相似文献
133.
Fiore Manganelli Raffaele Dubbioso Rosa Iodice Antonietta Topa Andrea Dardis Cinzia Valeria Russo Lucia Ruggiero Stefano Tozza Alessandro Filla Lucio Santoro 《Journal of neurology》2014,261(4):804-808
Adult patients with Niemann-Pick disease type C (NPC) usually develop cognitive impairment progressing to dementia, whose pathophysiology remains still unclear. Noteworthy parallels exist in cognitive impairment and cellular pathology of NPC and Alzheimer’s disease (AD). In particular, alterations of cholinergic system, which represent one of the pathological hallmarks and contribute to cognitive deterioration in AD, have recently been demonstrated in a human brain autopsy and in an experimental model of NPC. This finding raised the issue that central cholinergic circuits dysfunction may contribute to pathophysiology of cognitive impairment in NPC as well, and prompted us to evaluate the cholinergic functional involvement in NPC patients by applying a neurophysiologic technique, named short-latency afferent inhibition (SAI). We describe clinical, biochemical, molecular and neuropsychological features, and SAI findings in three patients affected by NPC. Diagnosis of NPC was assessed by molecular analysis of the NPC1 gene in all patients. In two of them, biochemical analysis of intracellular accumulation of unesterified cholesterol was also performed. The main clinical features were cerebellar ataxia, vertical supranuclear gaze palsy and a variable degree of cognitive impairment ranging from only memory impairment to severe dementia. Electrophysiological evaluation revealed a reduced SAI in all three patients. Our SAI findings provide evidence of cholinergic dysfunction in patients with the adult form of NPC, supporting that cholinergic alterations may play a role in cognitive impairment in NPC, and strengthening the similarities between NPC and AD. 相似文献
134.
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136.
17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature 下载免费PDF全文
137.
Sonia B. Albanese Lucio V. Zannini Gianluigi Perri Giancarlo Crupi Bruno Turinetto Giacomo Pongiglione The Baby Heart Committee 《Pediatric cardiology》2014,35(7):1162-1173
Optimization of the relationship between the supply and the demand for medical services should ideally be taken into consideration for the planning within each national Health System. Although government national health organizations embrace this policy specifically, the contribution of expert committees (under the scientific societies’ guarantee in any specific medical field) should be advocated for their capability to collect and analyze the data reported by the various national institutions. In addition, these committees have the competence to analyze the need for the resources necessary to the operation of these centers. The field of pediatric cardiology and cardiac surgery may represent a model of clinical governance of particular interest with regard to programming and to a definition of the quality standards that may be extended to highly specialized institutions and ideally to the entire Health System. The “Baby Heart Project,” which represents a model of governance and clinical quality in the field of pediatric cardiology and cardiac surgery, was born from the spontaneous aggregation of a committee of experts, supported by duly appointed Italian Scientific Societies and guided by a national agency for accreditation. The ultimate aim is to standardize both procedures and results for future planning within the national Health System. 相似文献
138.
Tatiana Vasconcellos Fontes Sonia Maria Soares Ferreira Arley Silva-Júnior Patrícia dos Santos Marotta Cesar Werneck Noce Dennis de Carvalho Ferreira Lucio Souza Gon?alves 《Clinics (S?o Paulo, Brazil)》2014,69(9):627-633
OBJECTIVE:
The purpose of this study was to estimate the prevalence of periradicular lesions in HIV-infected Brazilian patients and to assess the correlation of several factors with the periradicular status.METHOD:
One hundred full-mouth periapical radiographs were evaluated. A total of 2,214 teeth were evaluated for the presence of periradicular lesions, caries lesions, coronal restorations, pulp cavity exposure and endodontic treatment.RESULTS:
The prevalence of periradicular lesions was 46%. There were no significant differences between individuals with or without periradicular lesions with respect to their socio-demographic status, habits, laboratory data and route of HIV infection. However, the presence of a periradicular lesion was statistically correlated with the number of teeth with endodontic treatment (p = 0.018), inadequate endodontic treatment (p = 0.025), images suggesting pulp cavity exposure (p = 0.002) and caries lesions (p = 0.001).CONCLUSIONS:
The prevalence of periradicular lesions in HIV-infected individuals was 46% and was not related to HIV infection. 相似文献139.
Lucio Lo Russo Crescenzio Gallo Gioacchino Pellegrino Lorenzo Lo Muzio Giuseppe Pizzo Giuseppina Campisi Olga Di Fede 《Clinical oral investigations》2014,18(3):917-925