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1.
Artigo em Inglês | MEDLINE | ID: mdl-32924624

RESUMO

We describe the telemedicine experience of an Italian ALS tertiary Center during COVID-19 pandemic. A total of 144 visits were scheduled between 6th March and 6th April 2020. These mostly consisted of neurological or psychological visits (139, 96.5%). One hundred thirty-nine (96.5%) visits were performed as telemedicine and mostly via phone call (112, 80.6%). Three (2.1%) visits were considered as urgent and maintained as outpatient care. Additionally, patients were still able to telephone, being put through directly to their neurologists. Many requests of contact were addressed at getting information about the scheduled visits or examinations (45, 43.3%). Globally, patients and caregivers were satisfied with the telemedicine service. However, the majority (85, 65.9%) would prefer a face-to-face visit. In conclusion, telemedicine could be considered a good complement to face-to-face care, even after social restrictions have been eased.


Assuntos
Esclerose Amiotrófica Lateral/terapia , COVID-19 , Neurologia , Preferência do Paciente , Satisfação do Paciente , Psicologia , Telemedicina/métodos , Idoso , Esclerose Amiotrófica Lateral/fisiopatologia , Esclerose Amiotrófica Lateral/psicologia , Gerenciamento Clínico , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Equipe de Assistência ao Paciente , SARS-CoV-2 , Fonoterapia , Centros de Atenção Terciária
2.
J Neurol Neurosurg Psychiatry ; 90(7): 734-739, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30733331

RESUMO

OBJECTIVE: In 2017, the diagnostic criteria for cognitive and behavioural impairment in amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (ALSFTD-1) have been modified (ALSFTD-2) with the inclusion of a novel category (ALS with combined cognitive and behavioural impairment, ALScbi) and with changes of operational criteria of the other categories (ALS with cognitive impairment (ALSci), ALS with behavioural impairment (ALSbi) and ALS with frontotemporal dementia (ALS-FTD)). We compared the two sets of criteria to assess the effect of the revised criteria on the cognitive classification of patients with ALS. METHODS: Two cohorts of patients with ALS were included in this study: a population-based cohort including patients identified through the Piemonte/Valle d'Aosta register for ALS in the 2014-2017 period (n=321), and a referral cohort recruited at the Turin ALS centre and at the ALS centre of the Maugeri Institute in Milan in the same period (n=205). Cognitive function was classified in blind by two neuropsychologists expert in ALS. RESULTS: ALSFTD-2 criteria determined a shift of about 15% of patients from their original category to a new one. In both cohorts, about 9% of patients were reclassified to the novel category ALScbi. Among patients previously classified as cognitively normal, 14 (4.3%, population-based cohort) and 19 (9.3%, referral cohort) were reclassified as ALSbi or ALSci. The median survival of the different categories was significantly different with both with sets of criteria. CONCLUSIONS: The new ALSFTD-2 criteria, compared with the old ones, have positive effects on the clinical practice being more sensitive to the early cognitive impairment and having a better prognostic yield.


Assuntos
Esclerose Amiotrófica Lateral , Disfunção Cognitiva , Demência Frontotemporal , Idoso , Esclerose Amiotrófica Lateral/classificação , Esclerose Amiotrófica Lateral/diagnóstico , Estudos de Coortes , Feminino , Demência Frontotemporal/classificação , Demência Frontotemporal/diagnóstico , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
3.
Muscle Nerve ; 57(2): 212-216, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28342179

RESUMO

INTRODUCTION: In the brain, the chemokine (C-X3-C motif) receptor 1 (1CX3CR1) gene is expressed only by microglia, where it acts as a key mediator of the neuron-microglia interactions. We assessed whether the 2 common polymorphisms of the CX3CR1 gene (V249I and T280M) modify amyotrophic lateral sclerosis (ALS) phenotype. METHODS: The study included 755 ALS patients diagnosed in Piemonte between 2007 and 2012 and 369 age-matched and sex-matched controls, all genotyped with the same chips. RESULTS: Neither of the variants was associated with an increased risk of ALS. Patients with the V249I V/V genotype had a 6-month-shorter survival than those with I/I or V/I genotypes (dominant model, P = 0.018). The T280M genotype showed a significant difference among the 3 genotypes (additive model, P = 0.036). Cox multivariable analysis confirmed these findings. DISCUSSION: We found that common variants of the CX3CR1 gene influence ALS survival. Our data provide further evidence for the role of neuroinflammation in ALS. Muscle Nerve 57: 212-216, 2018.


Assuntos
Esclerose Amiotrófica Lateral/genética , Receptor 1 de Quimiocina CX3C/genética , Idade de Início , Idoso , Esclerose Amiotrófica Lateral/patologia , Feminino , Variação Genética , Genótipo , Humanos , Inflamação/patologia , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético/genética , População , Análise Serial de Proteínas , Análise de Sobrevida
4.
JAMA Neurol ; 74(9): 1097-1104, 2017 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-28692730

RESUMO

Importance: This study reports the long-term epidemiologic trends of amyotrophic lateral sclerosis (ALS) based on a prospective register. Objective: To examine the 20-year epidemiologic trends of ALS in the Piemonte and Valle d'Aosta regions of Italy. Design, Setting, and Participants: The Piemonte and Valle d'Aosta Register for ALS (PARALS) is an epidemiologic prospective register that covers 2 Italian regions (population of 4 476 931 inhabitants according to the 2011 census) from January 1, 1995, through December 31, 2014. Case ascertainment is based on multiple sources (neurologic departments, hospital discharge archives, and mortality records). Incidence rates are age and sex standardized for the Italian population of the 2011 census. Age-period-cohort (APC) analysis was performed using a Poisson regression model. Main Outcomes and Measures: The primary study outcomes were long-term incidence and prevalence rates of ALS using a prospective design and their determinants. Results: During the study period, a total of 2702 patients (mean [SD] age at onset, 65.7 [11.1] years; 1246 [46.1%] female and 1456 [53.9%] male) received a diagnosis of ALS between 1995 and 2014, corresponding to a crude annual incidence rate of 3.03 per 100 000 population (95% CI, 2.85-3.23) and an adjusted incidence rate of 2.78 per 100 000 population (95% CI, 2.57-2.96). The age-adjusted incidence rate increased in the 2 decades of the study (1995-2004: 2.66; 95% CI, 2.50-2.83; 2005-2014: 2.89; 95% CI, 2.71-3.07; P = .04), mostly in women. The adjusted rate ratio of men to women decreased from 1.27:1 (1995-2004) to 1.17:1 (2005-2014). The analysis of deviance for the APC regression models indicated that the drift variable is relevant in explaining the variation of ALS incidence rates over time in the overall population (change in deviance, 4.6553; P = .03) and in women (change in deviance, 3.8821; P = .05) but not in men (change in deviance, 0.77215; P = .38). A total of 479 patients with ALS were alive and had not undergone tracheostomy at the prevalence day (December 31, 2014), corresponding to a crude prevalence rate of 10.54 per 100 000 population (95% CI, 9.64-11.52). Conclusions and Relevance: During the 1995 to 2014 period, the crude and adjusted incidences of ALS increased in Piemonte and Valle d'Aosta, mostly in women. The APC model revealed that the increase of ALS incidence is attributable to a birth cohort effect in women, with a peak in the 1930 cohort. The different increase of ALS incidence in men and women points to an effect of exogenous factors with a differential effect on the 2 sexes, acting on a genetic background.


Assuntos
Esclerose Amiotrófica Lateral/epidemiologia , Sistema de Registros/estatística & dados numéricos , Idade de Início , Idoso , Feminino , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Fatores Sexuais
5.
J Neurol Neurosurg Psychiatry ; 87(11): 1229-1233, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27656044

RESUMO

OBJECTIVE: To assess the prognostic influence of premorbid smoking habits and vascular risk profile on amyotrophic lateral sclerosis (ALS) phenotype and outcome in a population-based cohort of Italian patients. METHODS: A total of 650 patients with ALS from the Piemonte/Valle d'Aosta Register for ALS, incident in the 2007-2011 period, were recruited. Information about premorbid cigarette smoking habits and chronic obstructive pulmonary disease (COPD) were collected at the time of diagnosis. RESULTS: Current smokers had a significantly shorter median survival (1.9 years, IQR 1.2-3.4) compared with former (2.3 years, IQR 1.5-4.2) and never smokers (2.7 years, IQR 1.8-4.6) (p=0.001). Also COPD adversely influenced patients' prognosis. Both smoking habits and CODP were retained in Cox multivariable model. CONCLUSIONS: This study has demonstrated in a large population-based cohort of patients with ALS that cigarette smoking is an independent negative prognostic factor for survival, with a dose-response gradient. Its effect is not related to the presence of COPD or to respiratory status at time of diagnosis. The understanding of the mechanisms, either genetic or epigenetic, through which exogenous factors influence disease phenotype is of major importance towards a more focused approach to cure ALS.


Assuntos
Esclerose Amiotrófica Lateral/mortalidade , Fumar/efeitos adversos , Fumar/mortalidade , Atividades Cotidianas/classificação , Idade de Início , Idoso , Esclerose Amiotrófica Lateral/diagnóstico , Estudos de Coortes , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Modelos de Riscos Proporcionais , Doença Pulmonar Obstrutiva Crônica/complicações , Doença Pulmonar Obstrutiva Crônica/mortalidade , Análise de Sobrevida
6.
JAMA Neurol ; 73(4): 425-30, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26903389

RESUMO

IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a heterogeneous disease with a wide spectrum of involvement of cognitive functions. The mechanisms of this heterogeneity are still largely unknown, but genetic variants may account for this variability. OBJECTIVE: To assess the influence of the apolipoprotein E (APOE) and C9ORF72 genotypes on cognitive impairment in a population-based series of Italian patients with ALS. DESIGN, SETTING, AND PARTICIPANTS: All 504 patients with ALS living in Piemonte, Italy, diagnosed between January 1, 2009, and December 31, 2013, and identified through the Piemonte and Valle d'Aosta register for ALS, were eligible to participate in the study. Controls were 223 age- and sex-matched individuals identified through the patients' general practitioners. Data analysis was performed from June 1 to December 31, 2014. MAIN OUTCOMES AND MEASURES: The presence of APOE and C9ORF72 genotypes was assessed. Patients were cognitively classified as having ALS with normal cognition, ALS with frontotemporal dementia (FTD), ALS with executive or nonexecutive impairment, and ALS with behavioral impairment. RESULTS: Of the 504 patients with incident ALS, 357 (70.8%) were included in the study; 154 were women, 203 were men, they had a mean (SD) age at onset of 64.8 (10.2) years, and 37 of them carried a C9ORF72 repeat expansion. Cognitive testing revealed that 184 patients (51.5%) had ALS with normal cognition, 51 (14.3%) had ALS with FTD, 103 (28.9%) had ALS with executive or nonexecutive impairment, and 19 (5.3%) had ALS with behavioral impairment. Distribution of APOE haplotypes did not significantly differ between patients and controls or among patients with different levels of cognitive impairment. According to multivariate logistic regression, the presence of C9ORF72 repeat expansions was the strongest determinant of FTD (odds ratio, 13.08; 95% CI, 4.75-36.02; P < .001); however, the presence of an APOE ε2 allele significantly increased the risk of FTD (odds ratio, 2.61; 95% CI, 1.14-6.10; P = .03). Presence of an APOE ε4 allele was ineffectual. CONCLUSIONS AND RELEVANCE: C9ORF72 repeat expansions have a primary role in increasing the risk of cognitive impairment in patients with ALS; the APOE ε2 allele, to a lesser extent, also increases the risk of FTD. These study findings highlight the importance of considering the genetic background of patients with ALS when analyzing the putative effect of genetic modifiers.


Assuntos
Esclerose Amiotrófica Lateral/epidemiologia , Esclerose Amiotrófica Lateral/genética , Apolipoproteína E2/genética , Demência Frontotemporal/epidemiologia , Demência Frontotemporal/genética , Marcadores Genéticos/genética , Idoso , Esclerose Amiotrófica Lateral/diagnóstico , Apolipoproteínas E/genética , Proteína C9orf72 , Estudos de Coortes , Feminino , Demência Frontotemporal/diagnóstico , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Proteínas/genética
7.
Neurology ; 86(1): 44-9, 2016 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-26590270

RESUMO

OBJECTIVE: To identify the metabolic signature of the various levels of cognitive deficits in amyotrophic lateral sclerosis (ALS) using 18F-2-fluoro-2-deoxy-d-glucose-PET (18F-FDG-PET). METHODS: A total of 170 ALS cases consecutively enrolled at the ALS Center of Turin underwent brain 18F-FDG-PET and were classified as displaying normal cognition (ALS-Cn; n = 94), full-blown frontotemporal dementia (ALS-FTD; n = 20), executive or nonexecutive cognitive impairment not fulfilling FTD criteria (ALS-Ci; n = 37), prevalent behavioral changes (n = 9), or nonclassifiable impairment (n = 10) according to neuropsychological testing. Group comparisons of 18F-FDG-PET pattern were carried out among the cognitive subgroups. RESULTS: We found a significantly reduced frontal and prefrontal metabolism in ALS-FTD as compared to ALS-Cn, while ALS-Ci showed an intermediate metabolic behavior in frontal cortex, being hypometabolic as compared to ALS-Cn, and relatively hypermetabolic as compared to ALS-FTD. Hypometabolism in frontal regions was associated in all comparisons to hypermetabolism in cerebellum, midbrain, and corticospinal tracts: the more severe the cognitive decline, the larger the size of the cluster and the statistical significance of 18F-FDG uptake differences. CONCLUSIONS: This study demonstrated in a large cohort of patients with ALS a continuum of frontal lobe metabolic impairment reflecting the clinical and anatomic continuum ranging from pure ALS, through ALS with intermediate cognitive deficits, to ALS-FTD, and showing that patients with intermediate cognitive impairment display a characteristic metabolic pattern. Since 18F-FDG-PET allows us to estimate the cerebral lesion load in vivo in neurodegenerative diseases, it might be helpful to investigate in ALS its association with neuropsychological testing along the disease course to disclose the early metabolic signature of possible cognitive impairment.


Assuntos
Esclerose Amiotrófica Lateral/diagnóstico por imagem , Esclerose Amiotrófica Lateral/psicologia , Transtornos Cognitivos/diagnóstico por imagem , Transtornos Cognitivos/psicologia , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons , Idoso , Esclerose Amiotrófica Lateral/epidemiologia , Transtornos Cognitivos/epidemiologia , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
10.
Artigo em Inglês | MEDLINE | ID: mdl-25299943

RESUMO

The frequency of SOD1 mutations differs among populations: in Italy they account for 13.6% of familial ALS and 0.7% of sporadic cases. We describe an apparently sporadic Italian ALS patient, carrying a novel p.E121G heterozygous missense mutation of SOD1, with a 14-year disease course and a prevalent lower motor neuron phenotype, which are not uncommon among SOD1 mutations carriers. To our knowledge, no other mutation of codon 121 of SOD1 has ever been reported. Three in silico models suggest a deleterious effect of the p.E121G mutation. Nevertheless, further studies are necessary to confirm its pathogenic role and to evaluate eventual genotype-phenotype correlations.


Assuntos
Esclerose Amiotrófica Lateral/genética , Mutação de Sentido Incorreto/genética , Superóxido Dismutase/genética , Idoso , Humanos , Estudos Longitudinais , Masculino , Superóxido Dismutase-1
11.
JAMA Neurol ; 71(9): 1134-42, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25048026

RESUMO

IMPORTANCE: There is an urgent need to identify reliable biomarkers of amyotrophic lateral sclerosis (ALS) progression for clinical practice and pharmacological trials. OBJECTIVES: To correlate several hematological markers evaluated at diagnosis with ALS outcome in a population-based series of patients (discovery cohort) and replicate the findings in an independent validation cohort from an ALS tertiary center. DESIGN, SETTING, AND PARTICIPANTS: The discovery cohort included 712 patients with ALS from the Piemonte and Valle d'Aosta Register for Amyotrophic Lateral Sclerosis from January 1, 2007, to December 31, 2011. The validation cohort comprised 122 patients with ALS at different stages of disease consecutively seen at an ALS tertiary center between January 1, 2007, and January 1, 2009. MAIN OUTCOMES AND MEASURES: The following hematological factors were investigated and correlated with survival: total leukocytes, neutrophils, lymphocytes, monocytes, glucose, creatinine, uric acid, albumin, bilirubin, total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, creatine kinase, thyroid-stimulating hormones, and erythrocyte sedimentation rate; all analyses were performed separately by sex. The patient of the validation cohort also underwent bioelectrical impedance analysis for the calculation of fat-free mass. RESULT: Of the 712 patients in the examined period in Piemonte and Valle d'Aosta, 638 (89.6%) were included in the study. Only serum albumin (men: ≤ 4.3 vs >4.3 mg/dL, P < .001; women: ≤ 4.3 vs >4.3 mg/dL, P < .001) and creatinine levels (men: ≤ 0.82 vs >0.82 mg/dL, P = .004; women: ≤ 0.65 vs >0.05 mg/dL, P = .004) and lymphocyte count (men: ≤ 1700 vs >1700/µL, P = .04; women: ≤ 1700 vs >1700/µL, P = .02) were significantly associated with ALS outcome in both sexes with a dose-response effect (better survival with increasing levels). These findings were confirmed in the validation cohort. Multivariable analysis showed that serum albumin (men: hazard ratio [HR], 1.39; 95% CI, 1.05-1.90; P = .02; women: HR, 1.73; 95 % CI, 1.35-2.39; P = .001) and creatinine (men: HR, 1.47; 95% CI, 1.11-1.95; P = .007; women: HR, 1.49; 95% CI, 1.07-2.05; P = .02) were independent predictors of survival in both sexes; no other hematological factor was retained in the model. In patients with ALS, serum albumin was correlated with markers of inflammatory state while serum creatinine was correlated with fat-free mass, which is a marker of muscle mass. CONCLUSIONS AND RELEVANCE: In ALS, serum albumin and creatinine are independent markers of outcome in both sexes. Creatinine reflects the muscle waste whereas albumin is connected with inflammatory state. Both creatinine and albumin are reliable markers of the severity of clinical status in patients with ALS and can be used in defining prognosis at the time of diagnosis.


Assuntos
Esclerose Amiotrófica Lateral/sangue , Creatinina/sangue , Albumina Sérica/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Esclerose Amiotrófica Lateral/mortalidade , Esclerose Amiotrófica Lateral/patologia , Biomarcadores/sangue , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Itália , Contagem de Linfócitos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Valor Preditivo dos Testes , Prognóstico , Sensibilidade e Especificidade
13.
Amyotroph Lateral Scler ; 13(4): 393-5, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22632444

RESUMO

Abstract Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease. We describe the case of a patient with a rapidly progressive form of ALS characterized by both upper and lower motor neuron impairment, no early bulbar signs and severe pain in all four extremities. The patient had a heterozygous c.271G > A mutation in SOD1, leading to an amino acids substitution of asparagine to aspartate at position 90 of the protein chain (p.D90N). Our report confirms that ALS patients with D90 codon heterozygous mutations may be associated with rapid progression and a prominent pain syndrome.


Assuntos
Esclerose Amiotrófica Lateral/genética , Mutação de Sentido Incorreto , Superóxido Dismutase/genética , Idoso , Substituição de Aminoácidos , Esclerose Amiotrófica Lateral/patologia , Progressão da Doença , Feminino , Heterozigoto , Humanos , Linhagem , Superóxido Dismutase-1
14.
Amyotroph Lateral Scler ; 12(3): 168-71, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21348787

RESUMO

It has been repeatedly shown that religiousness and spirituality have positive effects on quality of life (QoL) and outcome in ALS patients. here are, however, very few data on the impact of religiousness/spirituality on ALS caregivers. We determined the impact of religiousness on caregivers and its correlation with quality of life, depression and anxiety. A total of 75 consecutive ALS patients and their informal caregivers were interviewed using tests evaluating religiousness, depression, anxiety, quality of life and satisfaction with life. Results showed that there was a significant correlation between patients and caregivers' public and total religiousness. Caregivers' private religiousness was related to their age and education level, while their public religiousness was related only to their education level. Caregivers' quality of life was related to their private religiousness and satisfaction with life with their total religiousness. We conclude that religiousness is positively associated with ALS caregivers' quality of life and satisfaction with life, in a measure similar to that observed in ALS patients. Health care professionals caring for ALS patients should consider that the needs of the caregivers include religious/spiritual concerns.


Assuntos
Esclerose Amiotrófica Lateral , Cuidadores/psicologia , Qualidade de Vida , Religião , Espiritualidade , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Apoio Social , Inquéritos e Questionários
15.
Amyotroph Lateral Scler ; 12(4): 307-8, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21344999

RESUMO

Monomelic amyotrophy (MA) is a variant of motor neuron disease (MND), characterized by muscle weakness and atrophy restricted to one limb. We describe the case of a 56-year-old Italian patient who developed a segmental muscular atrophy limited to the lower left limb. After 11 years of clinical stability he developed progressive spread of the disease to all limbs and to bulbar and respiratory muscles. The patient died from respiratory failure 15 years after disease onset. This case demonstrates that monomelic amyotrophy may rarely evolve to a diffuse fatal MND, even after more than a decade of clinical stability. Our findings support the idea that MA is part of the clinical continuum of MND.


Assuntos
Atrofias Musculares Espinais da Infância/mortalidade , Atrofias Musculares Espinais da Infância/fisiopatologia , Progressão da Doença , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-Idade , Atrofias Musculares Espinais da Infância/patologia
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