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1.
Nature ; 609(7929): 911-914, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-36171381

RESUMO

The central regions of galaxy clusters are permeated by magnetic fields and filled with relativistic electrons1. When clusters merge, the magnetic fields are amplified and relativistic electrons are re-accelerated by turbulence in the intracluster medium2,3. These electrons reach energies of 1-10 GeV and, in the presence of magnetic fields, produce diffuse radio halos4 that typically cover an area of around 1 Mpc2. Here we report observations of four clusters whose radio halos are embedded in much more extended, diffuse radio emission, filling a volume 30 times larger than that of radio halos. The emissivity in these larger features is about 20 times lower than the emissivity in radio halos. We conclude that relativistic electrons and magnetic fields extend far beyond radio halos, and that the physical conditions in the outer regions of the clusters are quite different from those in the radio halos.

2.
J Neurooncol ; 157(3): 551-559, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35397759

RESUMO

PURPOSE: Lacosamide (LCM) is a third-generation anti-seizure medication (ASM) approved for focal onset epilepsy in patients aged ≥ 4.378 Previous studies have reported an efficacy of LCM as add-on treatment in brain tumor-related epilepsy (BTRE). To date, there are no studies in the literature focusing on lacosamide used in monotherapy to treat BTRE. In our retrospective study we investigated efficacy and tolerability of LCM in monotherapy in a multicenter national cohort of primary brain tumor patients. METHODS: We collected from 12 Italian Centers 132 patients with primary brain tumors who were treated with LCM in monotherapy. For each patient we evaluated seizure freedom at 3 and 6 months (primary endpoints), side effects and drop-out rate (secondary endpoints). RESULTS: Overall, LCM led to seizure freedom in 64.4% of patients at 3 months and 55% at 6 months. Patients who used two or more ASMs before LCM had a worse seizure control than patients in monotherapy with LCM as first choice. In 14 patients, we observed seizure control despite tumor progression on magnetic resonance (MRI). Multivariate analysis showed that gross-total resection at diagnosis was significantly associated with higher seizure freedom rate at 6 months. Side effects were mainly mild (grade 1-2 according to CTCAE classification) and drop-out rate was low (1.5%). Main side effects were dizziness and somnolence. CONCLUSIONS: This is the first study showing a good efficacy and tolerability of LCM when used in monotherapy in BTRE. Further prospective studies are needed to confirm these preliminary data, investigating also quality of life and neurocognitive functions.


Assuntos
Neoplasias Encefálicas , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Epilepsias Parciais , Epilepsia , Acetamidas , Anticonvulsivantes/uso terapêutico , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/tratamento farmacológico , Epilepsias Parciais/complicações , Epilepsias Parciais/tratamento farmacológico , Epilepsia/complicações , Epilepsia/etiologia , Humanos , Lacosamida/uso terapêutico , Qualidade de Vida , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Resultado do Tratamento
3.
Eur J Neurol ; 26(3): 407-414, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30184312

RESUMO

BACKGROUND AND PURPOSE: The presence of a continuum between physiological déjà vu (DV) and epileptic DV is still not known as well as epidemiological data in the Italian population. The aim was to identify the epidemiological distribution of DV in Italy, and secondly to look for specific features of DV able to discriminate between epileptic and non-epileptic DV. METHODS: In all, 1000 individuals, 543 healthy controls (C) (313 women; age 40 ± 15 years) and 457 patients with epilepsy (E) (260 women; age 39 ± 14 years), were prospectively recruited from 10 outpatient neurological clinics throughout Italy. All populations were screened using the Italian Inventory for Déjà Vu Experiences Assessment (I-IDEA) test and E and pairwise C underwent a comprehensive epilepsy interview. RESULTS: Of E, 69% stated that they experienced 'recognition' and 13.2% reported that this feeling occurred from a few times a month to at least weekly (versus 7.7% of the control group). Furthermore, a greater percentage of E (6.8% vs. 2.2%) reported that from a few times a month to at least weekly they felt that it seemed as though everything around was not real. In E, the feeling of recognition raised fright (22.3% vs. 13.2%) and a sense of oppression (19.4% vs. 9.4%). A fifth of E felt recognition during epileptic seizures. CONCLUSION: Only E regardless of aetiology firmly answered that they had the feeling of recognition during an epileptic seizure; thus question 14 of the I-IDEA test part 2 discriminated E from C. Paranormal activity, remembering dreams and travel frequency were mostly correlated to DV in E suggesting that the visual-memory network might be involved in epileptic DV.


Assuntos
Déjà Vu , Epilepsia/fisiopatologia , Transtornos Neurocognitivos/fisiopatologia , Reconhecimento Psicológico/fisiologia , Adulto , Estudos de Coortes , Epilepsia/complicações , Epilepsia/epidemiologia , Feminino , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Transtornos Neurocognitivos/epidemiologia , Transtornos Neurocognitivos/etiologia
4.
Acta Neurochir Suppl ; 124: 49-52, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28120052

RESUMO

BACKGROUND: Vagal nerve stimulation (VNS) is a palliative treatment option for drug-resistant epilepsy. The aim of this study was to describe the clinical and demographic features of selected patients scheduled for VNS and to evaluate the long-term efficacy of VNS in seizure control. MATERIALS AND METHODS: Between 2006 and 2013, 32 consecutive epileptic patients (14 male and 18 female) were enrolled at our Institute for VNS implantation. In all cases resective surgery had previously been excluded by the use of a noninvasive presurgical study protocol. Mean age was 32 years (range 18-50), and mean epilepsy duration 23 years (range 11-39). All subjects were followed-up for at least 2 years (mean 6 years, range 2-9) after VNS implantation. Patients were considered responders when a reduction of seizures of more than 50 % was reported. RESULTS: All patients had complex partial seizures, in 81 % of the patients with secondary generalization and in 56 % with drop attacks. Neurological examination revealed focal deficits in 19 % of the patients. Brain magnetic resonance imaging (MRI) was positive in 47 % of the patients. No surgical complications were observed in this series. Three patients were lost to follow-up. Twelve patients were classified as responders. Among the others, 1 patient experienced side effects (snoring and groaning during sleep) and the device was removed. CONCLUSIONS: Our data confirm that VNS is a safe procedure and a valid palliative treatment option for drug-resistant epileptic patients not suitable for resective surgery.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/terapia , Estimulação do Nervo Vago/métodos , Adolescente , Adulto , Epilepsia Resistente a Medicamentos/fisiopatologia , Eletroencefalografia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento , Estimulação do Nervo Vago/efeitos adversos , Adulto Jovem
5.
Eur J Neurol ; 23(2): 241-6, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26498733

RESUMO

BACKGROUND AND PURPOSE: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes. METHODS: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.1-23.0 years. The following clinical characteristics were evaluated: gender, patient age at seizure onset, history of febrile seizures and migraine, family history of epilepsy, duration and seizure manifestations, circadian distribution and frequency of seizures, history of medications including the number of drugs, therapeutic response and final outcome. RESULTS: Visual hallucinations were the first symptom in 62% and the only manifestation in 38.8% of patients. Patients were subdivided into two groups: group A with isolated COE-G; group B with other epileptic syndromes associated with COE-G. The most significant (P < 0.05) difference concerned antiepileptic therapy: in group A, 45 children responded to monotherapy; in group B only 15 children responded to monotherapy. At the end of follow-up, the percentage of seizure-free patients was significantly higher in group A than in group B. CONCLUSIONS: Childhood occipital epilepsy of Gastaut has an overall favourable prognosis and a good response to antiepileptic therapy with resolution of seizures and of electroencephalogram abnormalities. The association of typical COE-G symptoms with other types of seizure could be related to a poor epilepsy outcome.


Assuntos
Anticonvulsivantes/farmacologia , Síndrome de Lennox-Gastaut , Lobo Occipital/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Adulto , Áustria , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Síndrome de Lennox-Gastaut/diagnóstico , Síndrome de Lennox-Gastaut/tratamento farmacológico , Síndrome de Lennox-Gastaut/fisiopatologia , Masculino , Prognóstico , Estudos Retrospectivos , Adulto Jovem
6.
Eur J Paediatr Dent ; 25(2): 126-131, 2024 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-38414344

RESUMO

AIM: For a few years, teledentistry has been an emerging innovative strategy with potential in the field of paediatric dentistry. There are still few studies in this regard, so further research is needed to verify and ensure that teledentistry is not only an accessible mode of communication, but above all effective and evidence-based. This study aimed to use a preliminary telematic approach to promote the compliance of patients in the developmental age during the first dental visit. MATERIALS: Two hundred patients were selected according to the eligibility criteria, and distributed in two groups: a study group with the preliminary telematic approach (ATP) before the first visit and a control group with traditional first visit without ATP. Through an ordinal semi-proportional regression model, the degrees of collaboration between the study and control groups were compared, correcting the estimate for age groups, the presence of systemic pathologies, disorders of cognition, attention and learning, degree of anxiety and previous medical-dental experiences. CONCLUSION: The preliminary telematic approach could be useful as a support to the traditional paediatric dental visit, to promote better management and fidelity of the patient, reducing anxiety and increasing collaboration during the first visit.


Assuntos
Ansiedade , Odontopediatria , Criança , Humanos , Cooperação do Paciente , Trifosfato de Adenosina
7.
Eur J Paediatr Dent ; 22(1): 61-65, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33719485

RESUMO

AIM: To analyse lifestyle of Italian families during lockdown, evaluating its possible impact on the collaboration of children with the paediatric dentist and associated predictive factors. MATERIALS AND METHODS: Only patients aged between 3 and 16 years, who had started treatment before the lockdown and had spent this periodwith both parents were included in the study. The interviews were carried out using an anonymous questionnaire that assessed school and play activities, the type of diet, the time dedicated to home oral hygiene and the activities carried out with parents. Parents' work situation during lockdown was included to correlate it with time spent at home. The Frankl Behavior Rating Scale was used to determine the degree of cooperation during dental sessions pre- and post-lockdown. Chi-square test and Fisher's Exact tests were used to identify statistical associations of improvement with each categorical variable. Student's t-test was used to highlight the differences in mean values of continuous variables between subjects considered more cooperative and unimproved subjects. Hosmer-Lemeshow test was used to assess the goodness-of-fit of the model. Assumption of linearity of independent variables and log-odds were assessed by Box-Tidwell transformation. Final selection was carried out using the Akaike criterion and all statistical analyses were carried out using the STATA statistical software package. RESULTS: The sample consisted of 212 patients (103F; 109M). The age ranged between 3 and 16 years with an average age of 9.03 years; 82.08% (95% CI 76.24-86.99) of the subjects showed an improvement in collaboration compared to pre-lockdown. Logistic analysis reveals a statistically significant increase of the odds of improvement in patients with a lower pre-lockdown collaboration (OR: 6.05, p = 0.001), in children with a parental presence at home (jobless, OR : 30.55, p <0.001; in "smart working", OR: 23.06, p <0.001) when compared to children whose parents work away from home. From a further exploratory analysis, time dedicated to home oral hygiene was increased if associated with an increased presence of the parents at home (p = 0.015). CONCLUSION: Changes in family routines and increased parental presence at home, during the COVID-19 pandemic lockdown, are associated with improved collaboration of children during dental sessions. A statistical association between the increase in time spent on oral hygiene and the increased presence of parents at home was found.


Assuntos
COVID-19 , Pandemias , Adolescente , Criança , Pré-Escolar , Controle de Doenças Transmissíveis , Humanos , Itália , Estilo de Vida , Pais , SARS-CoV-2
8.
Eur Rev Med Pharmacol Sci ; 23(7): 3001-3004, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31002150

RESUMO

Epilepsia partialis continua (EPC) is a rare form of focal motor status epilepticus characterized by continuous muscular twitches or jerks involving a limited part of the body, usually facial region and distal limb. Although the cerebrovascular disease is known to be one of the most common causes of this condition, other reported cases with predominant abdominal involvement have different aetiologies, including, tumors, focal cortical dysplasia, and central nervous system infections. No cases of epilepsia partialis continua of the abdominal wall occurred after brain surgery have been previously reported. We describe the clinical, electrophysiological, and neuroimaging findings in an adult patient presenting with persistent unilateral abdominal myoclonus configuring an EPC as the evolution of a super-refractory hemibody convulsive status epilepticus, occurred after brain tumor surgery.


Assuntos
Músculos Abdominais , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Epilepsia Parcial Contínua/diagnóstico por imagem , Complicações Pós-Operatórias/diagnóstico por imagem , Músculos Abdominais/fisiopatologia , Epilepsia Parcial Contínua/etiologia , Epilepsia Parcial Contínua/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/fisiopatologia
10.
Eur Rev Med Pharmacol Sci ; 22(21): 7401-7403, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30468487

RESUMO

Neuropsychiatric manifestations are commonly observed in systemic lupus erythematosus (SLE) patients. In particular, neurological involvement is known to be more common in patients with positive anticardiolipin antibodies and lupus anticoagulants. Nevertheless, cerebellar ataxia has rarely been reported, especially as the first clinical manifestation of this systemic autoimmune disorder. Cerebral vascular infarction or ischemia, vasogenic oedema and antibody-mediated cerebral vasculopathy or vasculitic process have been supposed as possible aetiologies of acute cerebellar ataxia related to SLE. We report the clinical and radiological features of a woman who developed a rapidly progressive cerebellar syndrome as first sign of SLE; no other cause explaining her cerebellar ataxia was found. The patient improved after high-dose steroids. The appearance of a cerebellar syndrome with unknown aetiology with associated features of possible systemic autoimmune dysfunction, should be taken into account in clinical practice for appropriate diagnostic workup in order to provide effective therapeutic options.


Assuntos
Ataxia Cerebelar/etiologia , Lúpus Eritematoso Sistêmico/complicações , Adulto , Anti-Inflamatórios/uso terapêutico , Ataxia Cerebelar/diagnóstico por imagem , Ataxia Cerebelar/tratamento farmacológico , Feminino , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico por imagem , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Imageamento por Ressonância Magnética , Esteroides/uso terapêutico
11.
Epilepsy Res ; 77(1): 22-30, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17904823

RESUMO

OBJECTIVE: To further elucidate the psychiatric outcome of surgical treatment for temporal lobe epilepsy (TLE). METHODS: Fifty-two consecutive patients with drug-resistant TLE and IQ > or = 70 completed the Minnesota Multiphasic Personality Inventory, Beck Depression Inventory, Spielberger State-Trait Anxiety Inventory, and Spielberger State-Trait Anger Expression Inventory before epilepsy surgery, after 1 year, and after 2 years. Some patients also completed the 31-item Quality of Life in Epilepsy (N=29) and WHOQOL-100 (N=24) questionnaires. During the follow-up period, patients were maintained on a stable medication regimen. Multivariate repeated measures analysis of variance was used to examine changes in psychiatric variables over time. RESULTS: Seizure outcome was excellent (89% in Engel class I after 2 years). There were only a few significant changes over time in the MMPI profile, suggesting a decrease in interpersonal sensitivity, irritability, and social introversion. Anxiety decreased significantly with a gradual decline, anger dropped significantly after remaining basically flat during the first year, while depression showed a gradual but non-significant decline. Younger age and shorter duration of epilepsy were associated with greater improvement in several anger dimensions. In the patient subgroup with quality of life data available, greater improvement in overall quality of life and key life domains (income, work capacity, personal relationships) was found to be associated with greater decrease in depression, anxiety, and anger. CONCLUSION: The relatively slow decrease of emotional distress over time and its correlation with changes in some key life domains suggest that patients may experience difficulties in switching from a 'sick' role to a 'normal' role, and may easily be disappointed if expectations of positive life changes are not rapidly met. Some counselling sessions early after surgery may be useful to address these issues. The findings also suggest that surgery may yield greater emotional benefits if performed early.


Assuntos
Ira/fisiologia , Ansiedade/psicologia , Depressão/psicologia , Epilepsia do Lobo Temporal/psicologia , Epilepsia do Lobo Temporal/cirurgia , Personalidade/fisiologia , Complicações Pós-Operatórias/psicologia , Adulto , Análise de Variância , Ansiedade/epidemiologia , Depressão/epidemiologia , Resistência a Medicamentos , Feminino , Seguimentos , Humanos , MMPI , Masculino , Testes Neuropsicológicos , Procedimentos Neurocirúrgicos , Complicações Pós-Operatórias/epidemiologia , Escalas de Graduação Psiquiátrica , Qualidade de Vida , Lobo Temporal/cirurgia
12.
Eur Rev Med Pharmacol Sci ; 21(5): 1088-1090, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28338183

RESUMO

A 14-year-old girl presented with a two-years history of fluctuating convergent strabismus, diplopia, and reading difficulty. She has been previously diagnosed by experienced neurologists as having ocular myasthenia and she had been treated for two years with anticholinesterase inhibitors and immunomodulatory drugs. After a thorough medical interview and neurological examination, a diagnosis of psychogenic convergence spasm was made. The patient was then reassured and the symptoms immediately disappeared. She also had psychotherapy and maintained a condition of sustained freedom from symptoms.


Assuntos
Miastenia Gravis/diagnóstico , Estrabismo/diagnóstico , Adolescente , Diagnóstico Diferencial , Feminino , Humanos , Espasmo
13.
Clin Neurophysiol ; 117(2): 341-7, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16403486

RESUMO

OBJECTIVES: To evaluate a novel method for localization of subdural electrodes in presurgical assessment of patients with drug-resistant focal epilepsy. METHODS: We studied eight consecutive patients with posterior epilepsy in whom subdural electrodes were implanted for presurgical evaluation. Electrodes were detected on post-implantation brain CT scans through a semiautomated procedure based on a MATLAB routine. Then, post-implantation CT scans were fused with pre-implantation MRI to localize the electrodes in relation to the underlying cortical structures. The reliability of this procedure was tested by comparing 3D-rendered MR images of the electrodes with electrode position as determined by intraoperative digital photography. RESULTS: In each patient, all electrodes could be correctly localized and visualized in a stereotactic space, thus allowing optimal surgery planning. The agreement between the procedure-generated images and the digital photographs was good according to two independent raters. The mean mismatch between the 3D images and the photographs was 2 mm. CONCLUSIONS: While our findings need confirmation on larger samples including patients with anterior epilepsy, this procedure allowed to localize subdural electrodes and to establish the spatial relationship of each electrode to the underlying brain structure, either normal or damaged, on brain convessity, basal and medial cortex. SIGNIFICANCE: Being simple, rapid, unexpensive, and reliable, this procedure holds promise to be useful to optimize epilepsy surgery planning.


Assuntos
Mapeamento Encefálico , Resistência a Medicamentos , Eletrodos Implantados , Eletroencefalografia , Epilepsias Parciais/fisiopatologia , Espaço Subdural/fisiopatologia , Adulto , Epilepsias Parciais/diagnóstico , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imageamento Tridimensional , Masculino , Sensibilidade e Especificidade , Técnicas Estereotáxicas , Fatores de Tempo
15.
Eur Rev Med Pharmacol Sci ; 9(6): 343-8, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16479738

RESUMO

BACKGROUND: Many subjects with depression and with brain lesions can poorly control their emotions with fits of weeping and tearfulness; neurological patients present outbursts of laughter as well. This condition is called Emotional Lability (EL). The antidepressant drugs of the family of selective serotonine reuptake inhibitors (SSRI) improve EL within a few days in both depressive and neurological disorders. EL can be present in healthy subjects as well, in whom it is considered as normal, although often embarrassing. METHODS: Two healthy subjects with EL, were treated with 20 mgs of Paroxetine or placebo for cycles of 5 days. Moreover the effect was observed of either Paroxetine or Fluoxetine on the emotion control of three patients with mood disorders both when they were depressed and after recovering from the depression. RESULTS: In all subjects, after few days of treatment, EL disappeared, and their emotion control and behaviour were both modified. CONCLUSIONS: (1) In healthy subjects EL is often embarrassing; the possibility is interesting of preventing it on selected occasions with a brief treatment with no side effects and a cheap cost. (2) SSRI are among the most used drugs in the word and every day they are assumed by millions of people including politicians, business man, soldiers, army commanders, policemen and criminals. The idea is very stimulating and highly worrying that the control of the emotions and behaviour of these million of people can be quickly modified by the assumption of one pill of SSRI for a few days or by its discontinuation.


Assuntos
Transtorno Depressivo/tratamento farmacológico , Emoções/efeitos dos fármacos , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Adulto , Antidepressivos de Segunda Geração/uso terapêutico , Choro/psicologia , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/psicologia , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Fluoxetina/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade , Paroxetina/uso terapêutico , Resultado do Tratamento
18.
AIDS ; 15(14): 1783-7, 2001 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-11579239

RESUMO

BACKGROUND: The role combination therapy with interferon alfa-2b and tribavirin (US: ribavirin) plays in producing sustained virological responses in patients with HIV and chronic hepatitis C (HCV) infection is still unknown. OBJECTIVES: To determine the feasibility and sustained response of interferon alfa-2b and tribavirin combination therapy. DESIGN: Phase II study. METHODS: Seventeen patients were enrolled at the National Cancer Institute, Aviano, Italy and received combination therapy with interferon alfa-2b 3 MIU subcutaneously three times a week plus tribavirin 1000-1200 mg/day for 24 weeks. Antiretroviral therapy was concomitantly given in all but one patient. RESULTS: At the end of treatment, five (31%) patients achieved clearance of HCV RNA and 11 (69%) showed normalized liver function enzyme levels. In three patients, serum HCV RNA concentration was still undetectable 24 weeks after treatment, with an overall sustained virological response rate of 19% The serum liver enzymes were still normal in 10 patients 24 weeks after treatment, the overall sustained biochemical response rate being 62% All patients with HCV RNA clearance at the end of treatment and 24 weeks after treatment had a concomitant biochemical response. Overall the combination treatment was well tolerated. CONCLUSIONS: Our data confirm that the combination of interferon alfa-2b and tribavirin is well tolerated and feasible in patients with HIV-HCV co-infection and it can be associated safely with highly active antiretroviral therapy. The sustained response achieved with the drug combination does not seem to be any better than that achieved with 12 months of monotherapy with interferon alfa-2b.


Assuntos
Antivirais/uso terapêutico , Infecções por HIV/complicações , Hepatite C Crônica/complicações , Hepatite C Crônica/tratamento farmacológico , Interferon-alfa/uso terapêutico , Ribavirina/uso terapêutico , Adulto , Terapia Antirretroviral de Alta Atividade , Quimioterapia Combinada , Feminino , Infecções por HIV/tratamento farmacológico , HIV-1 , Hepacivirus/isolamento & purificação , Hepacivirus/fisiologia , Hepatite C Crônica/virologia , Humanos , Interferon alfa-2 , Masculino , Pessoa de Meia-Idade , RNA Viral/sangue , Proteínas Recombinantes , Resultado do Tratamento
19.
Eur J Hum Genet ; 7(5): 579-84, 1999 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10439965

RESUMO

The DEFECT11 syndrome is a contiguous gene syndrome associated with deletions in the proximal part of chromosome 11p. In this study, we describe in an Italian family the co-existence of multiple exostoses (EXT) and enlarged parietal foramina (FPP), the two major symptoms of this syndrome, with abnormalities of the central nervous system. The latter may be a yet undescribed feature of DEFECT11 syndrome. FISH and molecular analysis allowed us to identify a small deletion on 11p11-p12, further refining the localisation of the FPP gene involved in the DEFECT11 syndrome.


Assuntos
Sistema Nervoso Central/anormalidades , Cromossomos Humanos Par 11 , Exostose Múltipla Hereditária/genética , Osso Parietal/anormalidades , Adulto , Sistema Nervoso Central/diagnóstico por imagem , Exostose Múltipla Hereditária/diagnóstico por imagem , Feminino , Humanos , Itália , Imageamento por Ressonância Magnética , Masculino , Osso Parietal/diagnóstico por imagem , Linhagem , Radiografia , Deleção de Sequência , Síndrome
20.
Neurology ; 54(4): 1005-7, 2000 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-10691007

RESUMO

The authors searched for mitochondrial DNA (mtDNA) A3243G mutation in peripheral blood leukocytes from female migraine patients with pure matrilinear history of migraine along two or three generations. The current study was designed to exclude any male transmission of the disease. The mutation was absent in all patients. We conclude that mtDNA A3243G mutation does not contribute to the pathogenesis of pure matrilinear multigenerational migraine with or without aura.


Assuntos
DNA Mitocondrial/genética , Síndrome MELAS/complicações , Síndrome MELAS/genética , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/genética , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Mutação/genética
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