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1.
Funct Neurol ; 33(1): 31-35, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29633694

RESUMO

Apathy is a state of diminished goal-directed speech, motor activity and emotions. The prevalence of apathy in Parkinson's disease (PD) ranges from 16 to 62%. Several studies have investigated the relationships between apathy and other dimensions of PD, but little is known about possible discrepancies between self-evaluation (SE) and caregiver reporting (CR) of this symptom. The aim of this study is twofold: 1) to investigate the differences in apathy evaluations according to the point of view from which apathy is reported (SE vs CR); 2) to identify the possible relationships between each of the two evaluations (SE and CR) and cognitive and affective dimensions of PD. Forty-eight patients with PD were assessed using the Apathy Evaluation Scale (AES) in its SE and CR versions (AES-SE and AES-CR); cognitive, affective and behavioral symptoms were also assessed. AES-SE scores were significantly higher than AESCR ones. Neither AES version correlated with depression, whereas both correlated with motor impairment, disease stage and behavioral symptoms. Mini-Mental State Examination and Frontal Assessment Battery scores showed significant negative correlations only with AES-SE scores. Our findings suggest that the point of view from which apathy is seen can lead to significant discrepancies, even when using the same tool. This should be taken into account in order to obtain correct assessment of this disabling and distressing symptom.


Assuntos
Apatia/fisiologia , Cuidadores , Autoavaliação Diagnóstica , Doença de Parkinson/fisiopatologia , Psicometria/instrumentação , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Autorrelato
2.
Int J Immunopathol Pharmacol ; 27(2): 147-54, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25004826

RESUMO

We evaluated efficacy of natalizumab in relapsing-remitting multiple sclerosis patients in a clinical practice setting. We report data on the first consecutive 343 patients receiving natalizumab in 12 multiple sclerosis (MS) Italian centers enrolled between April 2007 and November 2010. The main efficacy endpoints were the proportion of patients free from relapses, disease progression, combined clinical activity, defined as presence of relapse or disease progression, from MRI activity, and from any disease activity defined as the absence of any single or combined activity. At the end of follow-up, the cumulative proportion of patients free from relapses was 68%; the proportion of patients free from Expanded Disability Status Scale (EDSS) progression was 93%; the proportion of patients free from combined clinical activity was 65%; the proportion of patients free from MRI activity was 77%; and the proportion of patients free from any disease activity was 53%. Natalizumab was effective in reducing clinical and neuroradiological disease activity. Its effectiveness in clinical practice is higher than that reported in pivotal trials and was maintained over time.


Assuntos
Anticorpos Monoclonais Humanizados/uso terapêutico , Imunossupressores/uso terapêutico , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Adulto , Anticorpos Monoclonais Humanizados/efeitos adversos , Avaliação da Deficiência , Progressão da Doença , Intervalo Livre de Doença , Feminino , Humanos , Imunossupressores/efeitos adversos , Itália , Estimativa de Kaplan-Meier , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/diagnóstico , Natalizumab , Vigilância de Produtos Comercializados , Fatores de Tempo , Resultado do Tratamento
3.
Neurol Sci ; 35 Suppl 1: 153-6, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24867854

RESUMO

Headache attributed to head and/or neck trauma or injury, the so-called post-traumatic headache (PTH), is the most common secondary headache disorder and one of the most controversial clinical entities in the headache field, due to its unclear pathophysiological mechanisms and the unsolved role of associated psychological and medico-legal aspects. PTH, as a significant cause of morbidity after traumatic brain injury, may occur as an isolated symptom or as one of a constellation of symptoms known as post-concussive syndrome. However, in many cases, PTH might also represent an accentuation of non-disabling, remote or infrequent pre-existing primary headaches rather than a new onset headache strictly related to the trauma. Recently, the International Classification of Headache Disorders attempted to classify PTH; however, many unsolved issues are still to be clarified. In this brief review, we will focus on PTH clinical aspects and diagnostic criteria.


Assuntos
Cefaleia Pós-Traumática/classificação , Cefaleia Pós-Traumática/fisiopatologia , Lesões Encefálicas/complicações , Lesões Encefálicas/mortalidade , Humanos , Cefaleia Pós-Traumática/diagnóstico , Cefaleia Pós-Traumática/patologia
4.
Neurol Sci ; 34 Suppl 1: S165-6, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23695071

RESUMO

Five years ago we reported the case of three patients affected by basilar-type migraine (BM) responsive to lamotrigine. At that time, proven treatment options for BM are rather limited and lamotrigine has been tested in BM patients because it was a widely tested treatment for migraine with aura. That positive 1-year experience leaded us to suggest that lamotrigine could be a preventive therapeutic option for BM patients, with and without menstruation association. We now report the five-year follow-up of the same patients to confirm and underlie the possible role of lamotrigine to induce BM attacks remission.


Assuntos
Antagonistas de Aminoácidos Excitatórios/uso terapêutico , Enxaqueca com Aura/tratamento farmacológico , Triazinas/uso terapêutico , Adulto , Feminino , Seguimentos , Humanos , Lamotrigina
5.
Neurol Sci ; 33 Suppl 1: S55-9, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22644172

RESUMO

A large series of clinical and experimental observations on the interactions between migraine and the extrapyramidal system are available. Some previous studies reported high frequency of migraine in some basal ganglia (BG) disorders, such as essential tremor (ET), Tourette's syndrome (TS), Sydenham's chorea and more recently restless legs syndrome (RLS). For example, the frequency of migraine headache in a clinic sample of TS patients was found nearly fourfold more than that reported in the general population. To the best of our knowledge, no controlled studies have been conducted to determine a real association. ET and migraine headache have been considered comorbid diseases on the basis of uncontrolled studies for many years. In a recent Italian study, this comorbid association has been excluded, reporting no significant differences in the frequency of lifetime and current migraine between patients with ET and controls. Among mostly common movement disorders, RLS has been recently considered as possibly comorbid with migraine. Studies in selected patient groups strongly suggest that RLS is more common in migraine patients than in control populations, although no population-based study of the coincidence of migraine and RLS has yet been identified. The exact mechanisms and contributing factors for a positive association between migraine and RLS remain unclear. A number of possible explanations have been offered for the association of RLS and primary headache, but the three most attractive ones are a hypothetical dopaminergic dysfunction and dysfunctional brain iron metabolism, a possible genetic linkage and a sleep disturbance. More recently, the role of BG in pain processing has been confirmed by functional imaging data in the caudate, putamen and pallidum in migraine patients. A critical appraisal of all these clinical and experimental data suggests that the extrapyramidal system is somehow related to migraine. Although the primary involvement of extrapyramidal system in the pathophysiology of migraine cannot as yet be proven, a more general role in the processing of nociceptive information and/or maybe part of the complex behavioral adaptive response that characterizes migraine may be suggested.


Assuntos
Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/fisiopatologia , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/fisiopatologia , Animais , Gânglios da Base/fisiopatologia , Comorbidade , Humanos , Síndrome das Pernas Inquietas/epidemiologia , Síndrome das Pernas Inquietas/fisiopatologia
6.
Neurol Sci ; 33 Suppl 1: S193-8, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22644202

RESUMO

Migraine is a chronic, recurrent, disabling condition that affects millions of people worldwide. Proper acute care treatment for migraineurs is based on triptans, a class of specific medications approved over 20 years ago. Triptans are serotonin (5-HT1B/1D) receptor agonists that are generally effective, well tolerated and safe. Seven triptans are available worldwide, although not all are available in every country, with multiple routes of administration, giving to doctors and patients a wide choice. Despite the similarities of the available triptans, pharmacological heterogeneity offers slightly different efficacy profiles. Triptans are not pain medications, they are abortive migraine medications which cannot prevent migraines. In addition to migraine attacks, triptans are also helpful for cluster headaches. If they are useful in other primary headaches rather than migraine and cluster headache it is yet to be addressed. In the literature there are only limited controlled clinical data to support a migraine-selective activity for triptans. Reports are available about efficacy of triptans to stop attacks of other types of primary headache, such as tension type headache, hypnic headache and other rare forms of primary headaches. On the other hand, sumatriptan failed to treat the indomethacin-responsive primary headache disorders like chronic paroxysmal hemicrania and hemicrania continua, nor was it effective in the myofascial temporal muscle pain or in atypical facial pain. Why triptans are effective in so different types of primary headaches remain unclear. Up to date, it is not clear whether the antimigrainous activity of the triptans involves an action only in the periphery or in the CNS as well. Probably we should consider triptans as "pain killers" and not only as "migraine killers". We clearly need additional studies on triptans as putative analgesics in well-accepted animal and clinical models of acute and chronic somatic pain.


Assuntos
Transtornos de Enxaqueca/tratamento farmacológico , Agonistas do Receptor de Serotonina/uso terapêutico , Triptaminas/uso terapêutico , Humanos , Transtornos de Enxaqueca/epidemiologia , Dor/tratamento farmacológico , Dor/epidemiologia
7.
Neurol Sci ; 32 Suppl 1: S153-6, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21533734

RESUMO

Based on recent data about the association between restless legs syndrome (RLS) and migraine, we performed an observational study on the occurrence of RLS in patients affected by "pure" migraine with aura (pMA). We recruited 63 patients (33 females and 30 males) affected by MA without other types of primary headache among all patients referred in five Italian headache centers in a 1-year period. The prevalence of RLS in pMA patients (9.5%) is similar to that observed in Italian headache-free subjects (8.3%). No significant differences were found between pMA patients with and without RLS about clinical features of MA attacks and systemic and psychiatric diseases were investigated. Moreover, no association appeared between RLS and familial cases of MA. Differently from migraine without aura, our data do not confirm the existence of an association between RLS and MA, not even when a genetic factor is involved.


Assuntos
Enxaqueca com Aura/epidemiologia , Síndrome das Pernas Inquietas/epidemiologia , Adolescente , Adulto , Idoso , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
8.
Cephalalgia ; 27(7): 809-13, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17598763

RESUMO

Efficacy of 5-day treatment with oral frovatriptan 2.5 mg/die for the prophylaxis of post-dural puncture headache (PDPH) was tested in 50 in-patients. A mild headache occurred in 7 (14%) patients for a total of 9 days (p < 0.01 vs. no-PDPH). Most episodes of PDPH occurred in the first days of treatment (only 1 patient had headache at dismissal): 5 patients had only 1 episode, while 2 had headache for 2 consecutive days. No other symptoms were recorded. Occurrence of PDPH in a subgroup of 6 (12%) patients previously submitted to a diagnostic lumbar puncture was also examined: 4 of them reported a PDPH on the previous lumbar puncture in absence of triptans. In only 1 of these 4 patients PDPH recurred under treatment with frovatriptan. In conclusion, our non-randomized open-label study suggests efficacy of oral frovatriptan for PDPH prevention. These results need to be confirmed in a randomized, controlled, double-blind study.


Assuntos
Carbazóis/administração & dosagem , Cefaleia Pós-Punção Dural/prevenção & controle , Agonistas do Receptor de Serotonina/administração & dosagem , Triptaminas/administração & dosagem , Administração Oral , Adolescente , Adulto , Idoso , Encefalite/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Mielite/diagnóstico , Projetos Piloto
9.
Neurol Sci ; 28 Suppl 2: S239-41, 2007 May.
Artigo em Inglês | MEDLINE | ID: mdl-17508181

RESUMO

Basilar-type migraine (BM) has been recognised in the revised International Classification of Headache Disorders as a distinct clinical entity (subtype of migraine with aura), characterised by disturbing migraine aura clearly originating from the brainstem or from both hemispheres simultaneously affected. It differs from familial and sporadic hemiplegic migraines by the absence of motor deficit. Lamotrigine has been shown to be effective in preventing migraine aura symptoms in typical aura and in some cases of BM. We tried lamotrigine in three female cases of BM.


Assuntos
Artéria Basilar/efeitos dos fármacos , Enxaqueca com Aura/tratamento farmacológico , Triazinas/administração & dosagem , Adulto , Artéria Basilar/fisiopatologia , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Artérias Cerebrais/diagnóstico por imagem , Artérias Cerebrais/fisiopatologia , Relação Dose-Resposta a Droga , Feminino , Humanos , Lamotrigina , Distúrbios Menstruais/complicações , Distúrbios Menstruais/fisiopatologia , Enxaqueca com Aura/diagnóstico , Enxaqueca com Aura/fisiopatologia , Bloqueadores dos Canais de Sódio/administração & dosagem , Tomografia Computadorizada de Emissão de Fóton Único , Resultado do Tratamento
10.
Eur J Neurol ; 13(1): 85-8, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16420398

RESUMO

Abdominal migraine is one of the variants of migraine headache typically occurring in children and coded as 1.3.2 in the revised edition of IHS classification within the group 'Childhood periodic syndromes that are commonly precursors of migraine'. The affected children frequently develop typical migraine later in their life. We report a case of a 23 years old woman affected by attacks of recurrent abdominal pain accompanied by migraine. Abdominal pain attacks started in the adolescence and persisted without headache until the patient was 21. At this time, she experienced migraine pain accompanied by nausea, photophobia and phonophobia and associated to acute abdominal pain. Neuroimaging investigations and laboratory testing excluded any underlying organic disease. Complete remission of abdominal attacks was obtained during 4-month treatment period with pizotifen. Attacks fulfil IHS diagnostic criteria for 'abdominal migraine', although of late onset. This case report suggests that 'abdominal migraine' is a migraineous disorder to be hypothesized in adult patients after having disclosed any organic disease. As reported in the literature, 'adult abdominal migraine' is a sporadic migraine subtype in adult patients and it is not to be considered as a new migraineous syndrome.


Assuntos
Dor Abdominal/etiologia , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/diagnóstico , Adulto , Diagnóstico por Imagem/métodos , Feminino , Humanos , Transtornos de Enxaqueca/classificação
11.
Acta Myol ; 23(2): 97-102, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15605951

RESUMO

Primary cardiomyopathies have as dominant feature the involvement of heart muscle itself. They are not the result of other diseases and should be defined as diseases of heart muscle not consequent to disorders of other parts of the cardiovascular apparatus. Most of them are consequent to genetic defects and can be subdivided into three major groups: isolated, associated with skeletal muscle diseases, associated with neurological disorders. Primary cardiomyopathies show an evolution from mild to more severe stages. Four types of cardiomyopathies are classically described: dilated, hypertrophic, restrictive and arrhythmogenic. However, from a clinical point of view, it is possible to distinguish seven stages: pre-clinical, prevalently arrhythmogenic, prevalently pseudo-hypertrophic, spotty fibrotic, restrictive, dilated and refractory heart failure. In the course of their evolution, cardiomyopathies can shift from a clinical picture to another, consequently requiring frequent examinations of patients in order to adjust their treatment.


Assuntos
Cardiomiopatias/classificação , Cardiomiopatias/diagnóstico , Comorbidade , Diagnóstico Diferencial , Humanos
12.
Acta Myol ; 22(1): 5-10, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-13677325

RESUMO

An electrocardiographic pattern resembling myocardial infarction is a rare condition in Duchenne muscular dystrophy. We report the case of a Duchenne boy, aged 12 years and 7 month, who, during a programmed examination, showed electrocardiographic signs of ST segment elevation, without symptoms usually accompanying myocardial infarction (chest pain, dyspnoea, sweating). The biological markers of myocardial damage became positive on the 2nd day and recovered on the 5th day. Clinical features of this uncommon pattern are described, with the retrospective evaluation of similar cases from personal records. The differential diagnosis between myocardial necrosis and apoptosis is discussed.


Assuntos
Apoptose/fisiologia , Cardiomiopatias/patologia , Cardiomiopatias/fisiopatologia , Distrofia Muscular de Duchenne/patologia , Distrofia Muscular de Duchenne/fisiopatologia , Infarto do Miocárdio/patologia , Infarto do Miocárdio/fisiopatologia , Necrose , Cardiomiopatias/etiologia , Criança , Diagnóstico Diferencial , Eletrocardiografia , Humanos , Masculino , Distrofia Muscular de Duchenne/complicações , Infarto do Miocárdio/etiologia
14.
Neuromuscul Disord ; 11(2): 178-85, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11257475

RESUMO

Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in delta-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%; an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in beta-, gamma- and delta-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in gamma- and delta-sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%.


Assuntos
Cardiomiopatias/fisiopatologia , Proteínas do Citoesqueleto/genética , Glicoproteínas de Membrana/genética , Distrofias Musculares/fisiopatologia , Mutação/genética , Insuficiência Respiratória/fisiopatologia , Adolescente , Adulto , Cardiomiopatias/genética , Cardiomiopatias/patologia , Criança , Pré-Escolar , Proteínas do Citoesqueleto/metabolismo , Análise Mutacional de DNA , Feminino , Humanos , Imuno-Histoquímica , Masculino , Glicoproteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Distrofias Musculares/diagnóstico por imagem , Distrofias Musculares/genética , Miocárdio/metabolismo , Miocárdio/patologia , Fenótipo , Testes de Função Respiratória , Insuficiência Respiratória/genética , Insuficiência Respiratória/patologia , Sarcoglicanas , Tomografia Computadorizada de Emissão de Fóton Único
15.
Int J Cardiol ; 59(3): 275-9, 1997 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-9183043

RESUMO

We evaluated the arrhythmic profile in a population of 20 Becker muscular dystrophy (BMD) patients searching for possible correlations between the severity of the arrhythmic events, the cardiac autonomic balance (assessed by heart rate variability analysis in the time domain) and the degree of left ventricular systolic impairment. A population of 14 male healthy individuals served as the control group. BMD subjects exhibited lower values of SDNN (P=0.013), SDANN index (P=0.008) and 24-h mean heart rate (P=0.002). The total number of premature ventricular beats (totPVB) and the number of PVB out of 1000 heartbeats (PVB/1000) appeared also higher in BMD subjects (P=0.05 and P=0.046, respectively). No difference was found in terms of 24-h mean QTc and 24-h longest QT among the two groups. TotPVB and PVB/1000 were inversely related to both the ejection fraction (r= -0.620, P=0.004 and r= -0.517, P=0.019) and to the shortening fraction (r= -0.568, P=0.009 and r= -0.469, P=0.037). Twenty-four-h mean QTc was also inversely related to both the ejection fraction (r= -0.520, P=0.019) and the fractional shortening (r= -0.491, P=0.028). These data suggest that in BMD there is cardiac autonomic imbalance characterized by sympathetic predominance and an increased susceptibility to ventricular arrhythmias, even in the absence of overt cardiomyopathy. Furthermore, the severity of the arrhythmic profile in BMD appears closely related to the degree of left ventricular systolic dysfunction.


Assuntos
Sistema Nervoso Autônomo/fisiopatologia , Ventrículos do Coração/inervação , Distrofias Musculares/complicações , Taquicardia Ventricular/complicações , Disfunção Ventricular Esquerda/etiologia , Adulto , DNA/análise , Distrofina/genética , Ecocardiografia , Eletrocardiografia Ambulatorial , Frequência Cardíaca , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/metabolismo , Reação em Cadeia da Polimerase , Prognóstico , Estudos Prospectivos , Volume Sistólico , Sístole , Taquicardia Ventricular/diagnóstico por imagem , Taquicardia Ventricular/fisiopatologia , Nervo Vago/fisiopatologia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/fisiopatologia
16.
J Nucl Med ; 38(4): 563-7, 1997 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9098202

RESUMO

UNLABELLED: The aim of this study was to evaluate left ventricular (LV) perfusion and function in patients with Becker muscular dystrophy (BMD). METHODS: Fourteen male patients (age range 14-40 yr) with BMD were evaluated by 201Tl SPECT and radionuclide angiography both at rest and after dipyridamole stress test. RESULTS: All patients showed uptake defect demonstrated by 201Tl SPECT (mean 4.1 +/- 2.2 uptake defect/patient). Significant relationships (p < 0.05) were found between the number of uptake defects and rest LV ejection fraction (LVEF) (r = -0.54); peak filling rate (PFR) (r = -0.57) and dipyridamole LVEF (r = -0.65). Dipyridamole induced reversible uptake defects were found in 7/14 (50%) patients with BMD. The 14 patients were divided into two groups on the basis of the presence (Group A, n = 6) or the absence (Group B, n = 8) of severe irreversible uptake defect (i.e., < 50% 201Tl uptake). Group A showed lower values of PFR and LVEF when compared to patients of Group B. CONCLUSIONS: In patients with BMD there is a relatively high incidence of uptake defects and LV function (both at rest and after dipyridamole) appears to be related to the number of uptake defects. Moreover, the presence of severe irreversible uptake defects identifies a subgroup of patients with BMD characterized by a severely depressed LV function.


Assuntos
Circulação Coronária , Coração/diagnóstico por imagem , Distrofias Musculares/fisiopatologia , Função Ventricular Esquerda , Adolescente , Adulto , Dipiridamol , Humanos , Masculino , Distrofias Musculares/diagnóstico por imagem , Angiografia Cintilográfica , Tomografia Computadorizada de Emissão de Fóton Único
17.
Acta Neurol Scand ; 93(5): 336-45, 1996 May.
Artigo em Inglês | MEDLINE | ID: mdl-8800344

RESUMO

The value of quantitative electroencephalography (q-EEG) in the differential diagnosis of multi-infarct dementia (MID) and dementia of Alzheimer's type (DAT) is controversial. To evaluate the possible diagnostic role of q-EEG in these two conditions we studied 18 healthy adults, 16 healthy elderly (HE), 29 DAT patients and 45 MID patients. MID patients showed a significant increase of delta activity on the occipital regions, a significant widespread increase of theta activity, a significant widespread decrease of alpha activity. DAT patients showed a significant widespread increase of delta and theta activity, a significant widespread decrease of alpha activity. Spectral profile analysis showed an asymptotic exponential peak frequency at 4.33 HZ, and the disappearance of dominant activity in DAT patients; a 1 Hz decrease of peak frequency with a preserved normal profile in MID patients. We conclude that q-EEG is a useful ancillary test to differentiate MID from DAT.


Assuntos
Envelhecimento , Doença de Alzheimer/fisiopatologia , Encéfalo/fisiopatologia , Demência por Múltiplos Infartos/fisiopatologia , Eletroencefalografia , Idoso , Mapeamento Encefálico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença
18.
JAMA ; 275(17): 1335-8, 1996 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-8614119

RESUMO

OBJECTIVE: To characterize the presence and behavior of the dystrophinopathic myocardial damage in female carriers of a gene defect at the Xp21 locus of the X chromosome that causes Duchenne and Becker muscular dystrophies (DMD and BMD). DESIGN: Cohort study from April 1, 1985, to April 30, 1995, with cardiologic follow-up performed yearly for a minimum of 3 to a maximum of 10 years. SETTING: Counseling center for genetic muscular disorders. PATIENTS: A total of 197 women and girls aged 5 to 60 years ascertained to be carriers of the DMD (n = 152) or BMD (n = 45) gene. MAIN OUTCOME MEASURES: Cardiac status at yearly examinations as determined by 12-lead electrocardiogram (ECG), 24-hour ambulatory ECG, M-mode and 2-dimensional echocardiography, and carotid pulse tracing. Myocardial scintigram was performed on each individual at least twice during the study. Immunohistochemical analysis of dystrophin from myocardium and/or skeletal muscle biopsy was performed in 12 carriers. RESULTS: Preclinical or clinically evident myocardial involvement was found in 166 cases (84.3%), without significant differences in percentage and behavior between DMD and BMD carriers. Its occurrence increased significantly with age, from 54.5% (18 cases) in carriers aged between 5 and 16 years to 90.2% (148 cases) in carriers older than 16 years. Dystrophin anomalies were detected at the membrane level of the myocardial fibers in all endomyocardial biopsy specimens. CONCLUSIONS: Genetic anomalies can be considered the primary cause of myocardial damage in carriers of dystrophinopathic myopathies; myocardial damage shows the same behavior already described in DMD and BMD patients and progresses from preclinical to dilated cardiomyopathy, passing through stages of myocardial hypertrophy or dysrhythmias.


Assuntos
Cardiomiopatias/genética , Distrofias Musculares/fisiopatologia , Adolescente , Adulto , Fatores Etários , Cardiomiopatias/fisiopatologia , Criança , Pré-Escolar , Estudos de Coortes , Distrofina/metabolismo , Feminino , Testes de Função Cardíaca , Heterozigoto , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofias Musculares/genética , Miocárdio/metabolismo , Miocárdio/patologia
19.
Muscle Nerve ; 18(3): 283-91, 1995 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7870105

RESUMO

To evaluate the features and the course of cardiomyopathy in Becker muscular dystrophy, 68 patients--identified by clinical assessment and by reduced dystrophin labeling and/or DNA analysis--were followed in the years 1976-1993, for periods ranging from 3 to 18 years (mean 8). Patients periodically underwent clinical, electrocardiographic, echocardiographic, nuclear, and radiological assessments. Preclinical cardiac involvement was found in 67.4% of patients under 16 years of age, decreasing to 30% in patients older than 40. Clinically evident cardiomyopathy was found in 15% of patients under 16 years of age, increasing to 73% in patients older than 40. A real, dilated cardiomyopathy is the most frequent type of myocardial involvement after the age of 20. Results show that the severity of cardiac involvement can be unrelated to the severity of skeletal muscle damage and confirm that cardiac dysfunction is a primary feature of Becker muscular dystrophy.


Assuntos
Cardiomiopatias/epidemiologia , Cardiomiopatias/etiologia , Distrofias Musculares/complicações , Adolescente , Adulto , Envelhecimento/fisiologia , Cardiomiopatias/diagnóstico por imagem , Eletrocardiografia , Coração/diagnóstico por imagem , Humanos , Incidência , Itália , Pessoa de Meia-Idade , Tomografia Computadorizada de Emissão de Fóton Único , Ultrassonografia
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