RESUMO
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and occur as a sporadic or an autosomal dominant condition. Three genes have been identified as causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3, mapping, respectively, on chromosomes 7q, 7p, and 3q. Here, we report an Italian family affected by CCM due to a MGC4607 gene mutation, on exon 4. All the affected subjects suffered from seizures, and some of them underwent surgery for removal of a cavernous angioma. Brain MRI showed multiple lesions consistent with CCMs in all patients. Spinal and cutaneous cavernous angiomas were present too. This report underlines the need for a careful interdisciplinarity among neurologists, neuroradiologists, neurosurgeons, geneticists, ophthalmologists, and dermatologists for a total evaluation of the different manifestations of familial CCM. This points out that only referral centers are organized to offer a multidisciplinary management of this disease.
Assuntos
Proteínas de Transporte/genética , Neoplasias do Sistema Nervoso Central/genética , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Mutação , Neoplasias Cutâneas/genética , Adolescente , Adulto , Idoso , Neoplasias do Sistema Nervoso Central/diagnóstico , Criança , Éxons , Feminino , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico , Humanos , Masculino , Linhagem , Neoplasias Cutâneas/diagnósticoRESUMO
BACKGROUND: The rehabilitation of the persons with Severe Acquired Brain Injury (ABI) is an important concern to be approached with a comprehensive program aimed to improve the recovery of patients.The efficacy of an early and intensive rehabilitation program has been shown in large number of studies. Few studies focused on the prevalence of TBI and the data are often extrapolated in indirect ways. AIM: An analysis of the demographic characteristics of the population included in the GISCAR (Gruppo Italiano per lo Studio delle Gravi Cerebrolesioni Acquisite e Riabilitazione- Italian Group for the Study of the severe ABI) database, type and conditions associated to the index event; the treatment administered during hospitalization; and the prognosis according to outcome measures. DESIGN: The study was an observational prospective survey looking at management of ABI (both traumatic and non-traumatic). SETTING: In hospital rehabilitation. POPULATION: Patients consecutively admitted in each of the 52 GISCAR centres. METHODS: Every centre included a consecutive cohort and recorded demographic data and index event characteristics. RESULTS: In the study population were included 2626 subjects suffering of a severe ABI. The difference of length of stay (LOS) was significantly different with 67.5 days for traumatic patients compared to the 80 days of non traumatic ones. In the study population the probability of discharge at home is significantly greater for the traumatic condition (odds ratio 0,4587; CI 0.3671-0.5731). The overall benefit of the rehabilitative treatment was encountered in a net gain in all disability scores taken into account: LCF classes; DRS as well as GOS scores. At discharge the main destination for severe ABI patients was home (67.2%). CONCLUSIONS: A large number of patients admitted in Italian rehabilitative facilities for a severe ABI suffered from a TBI, more often these subjects were young male victims of road accident. The majority of subjects during the rehabilitative hospitalization demonstrated a significant recovery. CLINICAL REHABILITATION IMPACT: Considering the evidence of an early treatment benefit the delay ofthe rehabilitation program start is far from being satisfactory. The high frequency of the home discharge indicate a good compliance of national family network.
Assuntos
Lesões Encefálicas/reabilitação , Adulto , Feminino , Escala de Coma de Glasgow , Humanos , Pacientes Internados , Itália , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Avaliação de Processos e Resultados em Cuidados de Saúde/métodos , Avaliação de Processos e Resultados em Cuidados de Saúde/estatística & dados numéricos , Estudos Prospectivos , Centros de Reabilitação/estatística & dados numéricos , Distribuição por SexoRESUMO
Cerebral cavernous malformations (CCMs) are a diffuse cerebrovascular disease affecting approximately 0.5% of the population. A CCM is characterized by abnormally enlarged and leaky capillaries arranged in mulberry-like structures with no clear flow pattern. The lesion might predispose to seizures, focal neurological deficits or fatal intracerebral hemorrhage. However, a CCM can also remain neurologically silent. It might either occur sporadically or as an inherited disorder with incomplete penetrance and variable expressivity. Due to advances in imaging techniques, the incidence of CCM diagnoses are increasing, and the patient must be managed on a multidisciplinary basis: genetic counselling, treatment if needed, and follow-up. Advances have been made using radiological and pathological correlates of CCM lesions adding to the accumulated knowledge of this disease, although management of these patients is very variable among centers. This review is aimed at providing an update in genetic and molecular insights of this condition. Included are implications for genetic counselling, and possible approaches to prevention and treatment that derive from the understanding of pathogenetic mechanisms.
Assuntos
Encéfalo , Sistema Nervoso Central/patologia , Hemangioma Cavernoso do Sistema Nervoso Central , Proteínas Associadas aos Microtúbulos , Proteínas Proto-Oncogênicas , Encéfalo/metabolismo , Encéfalo/patologia , Sistema Nervoso Central/metabolismo , Hemorragia Cerebral/genética , Hemorragia Cerebral/patologia , Aconselhamento Genético , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Hemangioma Cavernoso do Sistema Nervoso Central/fisiopatologia , Hemangioma Cavernoso do Sistema Nervoso Central/terapia , Humanos , Proteína KRIT1 , Proteínas Associadas aos Microtúbulos/genética , Proteínas Associadas aos Microtúbulos/metabolismo , Terapia de Alvo Molecular , Mutação , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Convulsões/genética , Convulsões/patologiaAssuntos
Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/patologia , Oxigenases de Função Mista/genética , Mutação , Paraparesia Espástica/genética , Paraparesia Espástica/patologia , Idade de Início , Sequência de Aminoácidos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , IrmãosRESUMO
BACKGROUND AND PURPOSE: Gadobenate dimeglumine has proved advantageous compared with other gadolinium-based contrast agents for contrast-enhanced brain MR imaging. Gadobutrol is a more highly concentrated agent (1.0 mol/L). This study intraindividually compared 0.1-mmol/kg doses of these agents for qualitative and quantitative evaluation of brain tumors. MATERIALS AND METHODS: Adult patients with suspected or known brain tumors underwent 2 identical MR imaging examinations at 1.5T, 1 with gadobenate dimeglumine and the other with gadobutrol, both at a dose of 0.1-mmol/kg body weight. The agents were injected in randomized order separated by 3-14 days. Imaging sequences and acquisition timing were identical for the 2 examinations. Three blinded readers evaluated images qualitatively for diagnostic information (lesion extent, delineation, morphology, enhancement, global preference) and quantitatively for CNR and LBR. RESULTS: One hundred fourteen of 123 enrolled patients successfully underwent both examinations. Final diagnoses were intra-axial tumors, metastases, extra-axial tumors, "other" tumors, and "nontumor" (49, 46, 8, 7, and 4 subjects, respectively). Readers 1, 2, and 3 demonstrated preference for gadobenate dimeglumine in 46 (40.7%), 54 (47.4%), and 49 (43.0%) patients, respectively, compared with 6, 7, and 7 patients for gadobutrol (P < .0001, all readers). Highly significant (P < .0001, all readers) preference for gadobenate dimeglumine was demonstrated for all other qualitative end points. Inter-reader agreement was good for all evaluations (κ = 0.414-0.629). Significantly superior CNR and LBR were determined for gadobenate dimeglumine (P < .019, all readers). CONCLUSIONS: Significantly greater morphologic information and lesion enhancement are achieved on brain MR imaging with 0.1-mmol/kg gadobenate dimeglumine compared with gadobutrol at an equivalent dose.
Assuntos
Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética/métodos , Meglumina/análogos & derivados , Compostos Organometálicos , Adulto , Idoso , Meios de Contraste , República Tcheca , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are represented by rare but life-threatening cutaneous adverse reactions to different drugs. Previous studies have found that in a Han Chinese population from Taiwan and other Asian Countries, a strong genetic association between HLA-class I alleles (B*15:02, B*58:01) and SJS and TEN was induced by carbamazepine and allopurinol, respectively. To identify genetic markers that covered the MHC region, we carried out a case-control association enrolling 20 Caucasian patients with SJS/TEN. Our patient series included 10 cases related to paracetamol, 7 to allopurinol and 3 to different drugs (plaquenil, itraconazol, nabumetone). Healthy controls were represented by 115 Caucasian bone marrow or stem cell donors. The HLA-A*, B*, C*, DRB1*, DQB1*, DQA1* and DPB1* genotyping were determined. The frequencies of HLA-A*33:03 as well as C*03:02 and C*08:01 were significantly higher in SJS/TEN patient subgroup showing allopurinol drug-induced severe cutaneous adverse reactions (SCAR) as compared to controls (28.6% vs 0%, P=0.00002, Pc=0.0011; 28.6% vs 0%, P=0.00002, Pc=0.001; 28.6% vs 0%, P=0.00002, Pc=0.001, respectively). In the same subgroup the frequencies of B*58:01, DRB1*15:02 and DRB1*13:02 alleles, although considerably higher than in control group (42.8% vs 5.2%, P=0.003; 28.6% vs 1.7%, P=0.005; 28.6% vs 3.5%, P=0.037, respectively), appeared no more statistically different after P correction (Pc=0.248; Pc=0.29; Pc=1.00, respectively). In addition, in 10 of the 20 SJS/TEN patient subgroup with paracetamol-induced SCAR no statistically significant association with HLA alleles could be found. However, in the same SJS/TEN patient subgroup showing allopurinol drug-induced SCAR, haplotype analysis indicated that B*58:01, DRB1*13:02 and DRB1*15:02 alleles, that in a single allele analysis lost statistical significance after P correction, may still confer susceptibility, because the B*58:01-DRB1*13:02 and DRB1*15:02-DQB1*05:02 are positively associated with the disease (14.2% vs 0.43%, P= 0.00001, Pc=0.00028; 14.2% vs 0.43%, P=0.00001, Pc=0.00028, respectively). Our results show that in contrast to SCAR-related to paracetamol, where HLA alleles do not appear to be involved, HLA molecules behave as a strong risk factor for SCAR-related to allopurinol even when a limited number of patients are considered.
Assuntos
Alelos , Antígenos de Histocompatibilidade Classe II/genética , Antígenos de Histocompatibilidade Classe I/genética , Síndrome de Stevens-Johnson/genética , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene/genética , Haplótipos , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Síndrome de Stevens-Johnson/imunologia , Adulto JovemRESUMO
BACKGROUND AND AIMS: Since little is known about the role of gender in the course of Alzheimer's disease (AD), a prospective epidemiological study was conducted to detect gender differences in relation to AD evolution and outcome. METHODS: Six hundred AD patients, 214 men and 386 women, first seen between September 2000 and December 2003, were enrolled; the follow-up period lasted until December 2008. RESULTS: The men had greater comorbidity and higher mortality than the women, who instead recorded more disability and longer survival. Survival curves showed that women reach partial loss of autonomy faster than men. Higher Neuropsychiatric Inventory scores at baseline showed a predictive value for loss of autonomy regardless of gender. Pharmacological treatment seems to have a protective role on disability and mortality. CONCLUSIONS: Gender influences disease evolution not only directly but also through other factors such as comorbidity.
Assuntos
Doença de Alzheimer , Atividades Cotidianas/psicologia , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/tratamento farmacológico , Doença de Alzheimer/epidemiologia , Doença de Alzheimer/fisiopatologia , Inibidores da Colinesterase/uso terapêutico , Feminino , Idoso Fragilizado/psicologia , Humanos , Testes de Inteligência , Itália , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores Sexuais , Análise de Sobrevida , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
BACKGROUND: Spontaneous intracranial hypotension (SIH) is characterized by orthostatic headache, diffuse pachymeningeal enhancement on brain magnetic resonance imaging (MRI) and low cerebrospinal fluid (CSF) pressure. Treatment ranges from conservative management, such as bed rest, overhydration and caffeine, to invasive procedures, such as the autologous epidural blood patch (EBP), computed tomography (CT)-guided fibrin glue injection at the site of the leak and open surgical intervention. EBP has emerged as the treatment of choice for SIH when initial conservative measures fail to bring relief. METHODS: Forty-two patients with SIH were treated with lumbar autologous EBP in Trendelenburg position preceded by pre-medication with acetazolamide. RESULTS: A complete recovery was obtained in all patients after one (90%), two (5%) or three (5%) EBPs. After EBP, two patients (5%) also performed evacuation of bilateral chronic subdural hematoma with mass effect. CONCLUSIONS: Spontaneous intracranial hypotension can be effectively cured by lumbar autologous EBP in Trendelenburg position pre-medicated with acetazolamide.
Assuntos
Acetazolamida/administração & dosagem , Placa de Sangue Epidural/métodos , Decúbito Inclinado com Rebaixamento da Cabeça/fisiologia , Hipotensão Intracraniana/tratamento farmacológico , Posicionamento do Paciente/métodos , Pré-Medicação/métodos , Derrame Subdural/tratamento farmacológico , Adulto , Idoso , Inibidores da Anidrase Carbônica/administração & dosagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Posicionamento do Paciente/normas , Recuperação de Função Fisiológica/fisiologia , Derrame Subdural/complicações , Resultado do TratamentoRESUMO
OBJECTIVE: The aim of this study was to assess efficacy and toxicity of temozolomide given alone or in combination with thalidomide, an anti-angiogenetic drug, in patients with newly diagnosed glioblastoma multiforme (GBM). PATIENTS AND METHODS: 46 patients with histologically proven GBM were eligible for inclusion. Twenty-three patients (15 males and 8 females) received temozolomide on a conventional schedule; 23 patients (12 males and 11 females) received temozolomide on the same schedule and thalidomide was dose-adjusted in each individual patient based on their tolerance. RESULTS: The median survival time was 12 months for temozolomide and 13 months for temozolomide + thalidomide. CONCLUSION: The administration of temozolomide in association with thalidomide after radiotherapy (RT) does not offer an advantage over temozolomide alone in adults with newly diagnosed GBM. The two therapeutic strategies produce similar results for survival, but the latter regimen shows a moderate increase in toxicity.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Dacarbazina/análogos & derivados , Glioblastoma/tratamento farmacológico , Adulto , Idoso , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirurgia , Terapia Combinada , Dacarbazina/administração & dosagem , Dacarbazina/uso terapêutico , Feminino , Glioblastoma/radioterapia , Glioblastoma/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Temozolomida , Talidomida/administração & dosagemRESUMO
A substantial genetic contribution in the etiology of developmental dyslexia (DD) has been well documented with independent groups reporting a susceptibility locus on chromosome 15q. After the identification of the DYX1C1 gene as a potential candidate for DD, several independent association studies reported controversial results. We performed a family-based association study to determine whether the DYX1C1 single nucleotide polymorphisms (SNPs) that have been associated with DD before, that is SNPs '-3GA' and '1249GT', influence a broader phenotypic definition of DD. A significant linkage disequilibrium was observed with 'Single Letter Backward Span' (SLBS) in both single-marker and haplotype analyses. These results provide further support to the association between DD and DYX1C1 and it suggests that the linkage disequilibrium with DYX1C1 is more saliently explained in Italian dyslexics by short-term memory, as measured by 'SLBS', than by the categorical diagnosis of DD or other related phenotypes.
Assuntos
Dislexia/genética , Memória de Curto Prazo/fisiologia , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Criança , Proteínas do Citoesqueleto , DNA/genética , Dislexia/psicologia , Feminino , Marcadores Genéticos , Genótipo , Haplótipos , Humanos , Inteligência/fisiologia , Testes de Inteligência , Desequilíbrio de Ligação/genética , Masculino , Testes Neuropsicológicos , Fenótipo , Desempenho Psicomotor/fisiologia , LeituraRESUMO
The ability to process and identify human faces matures early in life, is universal and is mediated by a distributed neural system. The temporal dynamics of this cognitive-emotional task can be studied by cerebral visual event-related potentials (ERPs) that are stable from midchildhood onwards. We hypothesized that part of individual variability in the parameters of the N170, a waveform that specifically marks the early, precategorical phases of human face processing, could be associated with genetic variation at the functional polymorphism of the catechol-O-methyltransferase (val(158)met) gene, which influences information processing, cognitive control tasks and patterns of brain activation during passive processing of human facial stimuli. Forty-nine third and fourth graders underwent a task of implicit processing of other children's facial expressions of emotions while ERPs were recorded. The N170 parameters (latency and amplitude) were insensitive to the type of expression, stimulus repetition, gender or school grade. Although limited by the absence of met- homozygotes among boys, data showed shorter N170 latency associated with the presence of 1-2 met158 alleles, and family-based association tests (as implemented in the PBAT version 2.6 software package) confirmed the association. These data were independent of the serotonin transporter promoter polymorphism and the N400 waveform investigated in the same group of children in a previous study. Some electrophysiological features of face processing may be stable from midchildhood onwards. Different waveforms generated by face processing may have at least partially independent genetic architectures and yield different implications toward the understanding of individual differences in cognition and emotions.
Assuntos
Catecol O-Metiltransferase/genética , Potenciais Evocados Visuais/genética , Expressão Facial , Reconhecimento Visual de Modelos/fisiologia , Tempo de Reação/genética , Criança , Discriminação Psicológica/fisiologia , Emoções/fisiologia , Feminino , Genótipo , Humanos , Masculino , Processos Mentais/fisiologia , Percepção SocialRESUMO
Of the cases with nocturnal frontal lobe epilepsy (NFLE) approximately 30% are refractory to antiepileptic medication, with several patients suffering from the effects of both ongoing seizures and disrupted sleep. From a consecutive series of 522 patients operated on for drug-resistant focal epilepsy, 21 cases (4%), whose frontal lobe seizures occurred almost exclusively (>90%) during sleep, were selected. All patients underwent a comprehensive pre-surgical evaluation, which included history, interictal EEG, scalp video-EEG monitoring, high-resolution MRI and, when indicated, invasive recording by stereo-EEG (SEEG). There were 11 males and 10 females, whose mean age at seizure onset was 6.2 years, mean age at surgery was 24.7 years and seizure frequency ranged from <20/month to >300/month. Nine patients reported excessive daytime sleepiness (EDS). Prevalent ictal clinical signs were represented by asymmetric posturing (6 cases), hyperkinetic automatisms (10 cases), combined tonic posturing and hyperkinetic automatisms (4 cases) and mimetic automatisms (1 case). All patients reported some kind of subjective manifestations. Interictal and ictal EEG provided lateralizing or localizing information in most patients. MRI was unrevealing in 10 cases and it showed a focal anatomical abnormality in one frontal lobe in 11 cases. Eighteen patients underwent a SEEG evaluation to better define the epileptogenic zone (EZ). All patients received a microsurgical resection in one frontal lobe, tailored according to pre-surgical evaluations. Two patients were operated on twice owing to poor results after the first resection. Histology demonstrated a Taylor-type focal cortical dysplasia (FCD) in 16 patients and an architectural FCD in 4. In one case no histological change was found. After a post-operative follow-up of at least 12 months (mean 42.5 months) all the 16 patients with a Taylor's FCD were in Engel's Class Ia and the other 5 patients were in Engel's Classes II or III. After 6 months post-surgery EDS had disappeared in the 9 patients who presented this complaint pre-operatively. It is concluded that patients with drug-resistant, disabling sleep-related seizures of frontal lobe origin should be considered for resective surgery, which may provide excellent results both on seizures and on epilepsy-related sleep disturbances. An accurate pre-surgical evaluation, which often requires invasive EEG recording, is mandatory to define the EZ. Further investigation is needed to explain the possible causal relationships between FCD, particularly Taylor-type, and sleep-related seizures, as observed in this cohort of NFLE patients.
Assuntos
Epilepsia do Lobo Frontal/cirurgia , Sono , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Mapeamento Encefálico/métodos , Criança , Ritmo Circadiano , Resistência a Medicamentos , Eletroencefalografia/métodos , Epilepsia do Lobo Frontal/tratamento farmacológico , Epilepsia do Lobo Frontal/patologia , Epilepsia do Lobo Frontal/fisiopatologia , Feminino , Seguimentos , Lobo Frontal/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Microcirurgia/métodos , Estudos Retrospectivos , Resultado do Tratamento , Gravação em VídeoRESUMO
The condition of persistently high plasma CK levels is frequently encountered in asymptomatic patients with normal neurological examination. This condition may be the unique manifestation of several neuromuscular disorders, whose diagnosis is now possible using new diagnostic techniques. However, even if these patients are intensely investigated, specific diagnoses are not always forthcoming. Because of the lack of a widely accepted diagnostic protocol, hyperCKaemia in asymptomatic subjects is a potentially difficult clinical problem. In this paper we review the literature on conditions associated with variations in plasma CK levels and the literature on investigations carried out in asymptomatic persons with high CK to identify neuromuscular diseases. In the light of these data, and the deliberations of a working group of the Italian Association of Myology, we propose a diagnostic algorithm to guide the diagnostic work-up of persons presenting with persistently high levels of plasma CK. This algorithm has been discussed and approved by the Committee of the Italian Association of Myology.
Assuntos
Algoritmos , Creatina Quinase/sangue , Técnicas e Procedimentos Diagnósticos , Doenças Neuromusculares/sangue , Doenças Neuromusculares/diagnóstico , Humanos , Literatura de Revisão como AssuntoRESUMO
UNLABELLED: AIM. The aim of this study is to show the compliance and the test-retest reliability of the questionnaire. METHODS: Construction of a structured questionnaire to perform a phone follow-up in 511 persons with traumatic spinal cord injury (SCI) 4 years after discharge from the first rehabilitative hospitalization. The questionnaire is structured in 24 items, comprising exclusion (closed questions) answers and 3 analogic scale answers, divided into 7 aspects: clinical conditions, sentimental relationships, quality of life, autonomy, mobility, occupation, social reintegration. A pilot survey on 20 subjects with SCI, hospitalized in different periods in 2 rehabilitation centers, was performed to check the questionnaire's feasibility and reproducibility. The persons were interviewed twice by telephone, with an interval of about one month, by a psychologist. The questionnaire was completed during one single phone conversation. RESULTS: No missing answers were recorded. The test run for this questionnaire showed high reproducibility based on the large numbers of questions with 100% correspondence between the answers ''before'' and ''after''. For most of the other questions this factor ranged between 80% and 99%, and for 2 questions on the analogic scale between 30% and 50%. CONCLUSIONS: The data collected by this pilot survey show the reliability of this questionnaire for all answers, save for the quantification of subjective variables.
Assuntos
Traumatismos da Medula Espinal/reabilitação , Inquéritos e Questionários , Atividades Cotidianas , Adulto , Idoso , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Traumatismos da Medula Espinal/fisiopatologiaAssuntos
Placa de Sangue Epidural , Cefaleia/terapia , Hipotensão Intracraniana/terapia , Derrame Subdural/terapia , Líquido Cefalorraquidiano/metabolismo , Vértebras Cervicais , Cefaleia/etiologia , Cefaleia/patologia , Humanos , Hipotensão Intracraniana/complicações , Hipotensão Intracraniana/patologia , Região Lombossacral , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Derrame Subdural/complicações , Derrame Subdural/patologiaRESUMO
OBJECTIVE: Even if the majority of patients with Guillain-Barré syndrome (GBS) have a favourable functional outcome some residual motor and sensory signs and symptoms may remain. The aim of this study was to evaluate the long-term effect of GBS on daily life,working activities, hobbies and social status and the presence of residual symptoms. PATIENTS AND METHODS: Seventy patients with GBS enrolled in a case-control study were examined. Information on signs or symptoms during the acute phase of the disease was retrieved from medical records and an ad-hoc questionnaire administered during hospitalization. Patients were interviewed by phone 3 to 5 years after disease onset about residual symptoms and changes in daily living. Disability and handicap were assessed using the Hughes, Rankin and Rotterdam 9-items scale. RESULTS: At follow-up 45 patients (64 %) made a complete functional recovery; 19 patients (27%) had some minor limitations in daily life although they were able to perform all their activities independently while 6 (9 %) needed aid for some hours or continuously during the day. Nineteen patients (27 %) had, however, to make substantial changes in their job, hobbies or social activities. There was no significant correlation between clinical and laboratory features during the acute phase of GBS and outcome. CONCLUSIONS: Although over 90% of our GBS patients had a more or less complete functional recovery, almost 30% of them had to make substantial changes in daily life. These findings indicate that GBS still has a significant impact on patients' life which may go beyond their residual disability or impairment. Treatment of GBS should not be only aimed at improving patients' disability but also at limiting the impact of the disease on their social life.
Assuntos
Pessoas com Deficiência/psicologia , Síndrome de Guillain-Barré/fisiopatologia , Síndrome de Guillain-Barré/psicologia , Mudança Social , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Avaliação da Deficiência , Progressão da Doença , Feminino , Seguimentos , Síndrome de Guillain-Barré/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
Hyperkinetic seizures are considered a typical manifestation of nocturnal frontal lobe epilepsy (NFLE). Patients with temporal lobe epilepsy with mainly sleep-related seizures have been described; however they commonly lack hyperkinetic activity and seizure frequency is low. We retrospectively analysed our population of 442 consecutive patients surgically treated between January 1996 and January 2004. Among these there were 25 patients with sleep-related hyperkinetic epileptic seizures, with a frontal lobe onset in 18 cases and a temporal lobe onset in 7. Patients with sleep-related hyperkinetic seizures with temporal lobe origin had anamnestic and clinical features strikingly similar to those with a frontal onset, with agitated movements, high seizure frequency and no history of febrile convulsions. We confirm our previous findings that this kind of epileptic manifestation is not only peculiar to frontal lobe epilepsy.
Assuntos
Epilepsia do Lobo Frontal/complicações , Epilepsia do Lobo Temporal/complicações , Hipercinese/etiologia , Parassonias/complicações , Lobo Temporal/fisiopatologia , Adolescente , Criança , Pré-Escolar , Epilepsia do Lobo Frontal/diagnóstico , Epilepsia do Lobo Frontal/fisiopatologia , Epilepsia do Lobo Temporal/diagnóstico , Epilepsia do Lobo Temporal/fisiopatologia , Feminino , Humanos , Hipercinese/fisiopatologia , Lactente , Imageamento por Ressonância Magnética , Masculino , Parassonias/fisiopatologiaRESUMO
A 62-year-old woman developed dysphasia, signs of intracranial hypertension and seizures. An MRI scan evidenced extra-axial contrast enhancement in the absence of mass lesions. CSF analysis was negative for malignant cytology and viral or bacterial microbiology. In the absence of other evidence, considering the acute clinical onset and MRI picture, a viral encephalitis was suspected and antiviral therapy was started, however, with no effect. Death occurred three weeks after presentation because of acute brain swelling. Autopsy revealed leptomeningeal gliomatosis and diffuse parenchymal infiltration at the cerebellar and left temporal lobe. Primary leptomeningeal gliomatosis (PLMG) is a rare event. The reported case and the reviewed literature evidence that clinical signs at presentation are non-specific, CSF negative findings are common, the diagnosis is always delayed and the prognosis dismal.
Assuntos
Neoplasias Encefálicas/patologia , Glioma/patologia , Neoplasias Meníngeas/patologia , Neoplasias Encefálicas/líquido cefalorraquidiano , Feminino , Proteína Glial Fibrilar Ácida/metabolismo , Glioma/líquido cefalorraquidiano , Humanos , Aumento da Imagem/métodos , Imuno-Histoquímica/métodos , Masculino , Neoplasias Meníngeas/líquido cefalorraquidiano , Pessoa de Meia-Idade , Coloração e Rotulagem/métodos , Tomografia Computadorizada por Raios X/métodosRESUMO
We examined a group of 18 consecutive patients with spontaneous cerebrospinal fluid leak syndrome (SCSFLS) and investigated clinical, MRI, radioisotope findings and therapeutic outcome of this syndrome.
Assuntos
Líquido Cefalorraquidiano/fisiologia , Hipotensão Intracraniana/fisiopatologia , Adulto , Idoso , Repouso em Cama , Feminino , Cefaleia/líquido cefalorraquidiano , Cefaleia/etiologia , Humanos , Hipotensão Ortostática/complicações , Hipotensão Ortostática/fisiopatologia , Hipotensão Intracraniana/líquido cefalorraquidiano , Hipotensão Intracraniana/terapia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-IdadeRESUMO
Parkinson's disease (PD) is often associated with other disorders, typical of the disease or of the age of PD patients, that can lead to hospitalisation, sometimes as emergencies. In this one-year prospective, longitudinal study, we investigated the comorbid events prompting the hospitalisation, or occurring during the planned hospitalisation, of an unselected group of 180 PD patients, admitted to 9 general hospitals in the course of the study. The most frequent acute comorbid events were trauma (30.5%), mostly due to falls, and vascular disorders (29.3%). Comorbidities were closely related to PD in 50% of cases. More than 50% of patients did not require (in addition to PD therapy) specific treatment for the acute comorbid event. Older age was associated with increased risk of complications. The setting up of multidisciplinary networks covering entire territories could help to improve the way in which we tackle the clinical and social problems generated by PD and its comorbidities.