The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor ...neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients.
INTRODUÇÃO E OBJETIVO: Descrição das características demográficas, clinicas e neuropatológicas de 11 doentes com doença de Creutzfeldt-Jakob (DCJ). MÉTODO: Revisão clínica e neuropatológica de ...doentes com DCJ diagnosticados entre 1993 e 2002 em hospitais do Norte de Portugal. RESULTADOS: Foram identificados 11 doentes (4 do sexo feminino; idade média de início dos sintomas, 64 anos; média de duração da doença, 8 meses). Todos apresentaram síndrome demencial progressiva associada a mioclonias, sendo a síndrome cerebelar a forma de apresentação inicial em quatro deles. O estudo neuropatológico revelou sempre espongiose e gliose reativa associada a perda neuronal. O estudo imunocitoquímico para proteína priônica (PrP) foi positivo nos oito casos em que foi executado. CONCLUSÃO: O grupo de doentes descritos constitui uma série clinica representativa da heterogeneidade de fenótipos possíveis da DCJ esporádica. O estudo neuropatológico é ainda indispensável para o diagnóstico definitivo da doença.
Amyotrophic lateral sclerosis (ALS), Charcot's disease or Lou Gehrig's disease, is a term used to cover the spetrum of syndromes caracterized by progressive degeneration of motor neurons, a paralytic ...disorder caused by motor neuron degeneration. Currently, there are approximately 25,000 patients with ALS in the USA, with an average age of onset of 55 years. The incidence and prevalence of ALS are 1-2 and 4-6 per 100,000 each year, respectively, with a lifetime ALS risk of 1/600 to 1/1000. It causes progressive and cumulative physical disabilities, and leads to eventual death due to respiratory muscle failure. ALS is diverse in its presentation, course, and progression. We do not yet fully understand the causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. In this chapter, we will discuss the diagnosis, treatment, and how to cope with impaired function and end of life based on of our experience, guidelines, and clinical trials. Nowadays ALS seems to be a more complex disease than it did two decades - or even one decade - ago, but new insights have been plentiful. Clinical trials should be seen more as experiments on pathogenic mechanisms. A medication or combination of medications that targets more than one pathogenic pathway may slow disease progression in an additive or synergistic fashion.
Background:
Clinical and therapeutic patterns of ulcerative colitis (UC) are variable in different world regions. The purpose of this study was to examine two close independent southern European UC ...populations from 2 bordering countries and observe how demographic and clinical characteristics of patients can influence the severity of UC.
Methods:
A cross‐sectional study was conducted during a 15‐month period (September 2005 to December 2006) based on data of 2 Web registries of UC patients. Patients were stratified according to the Montreal Classification and disease severity was defined by the type of treatment taken.
Results:
A total of 1549 UC patients were included, 1008 (65%) from northern Portugal and 541 (35%) from Galicia (northwest Spain). A female predominance (57%) was observed in Portuguese patients (P < 0.001). The median age at diagnosis was 35 years and median years of disease was 7. The majority of patients (53%) were treated only with mesalamine, while 15% had taken immunosuppressant drugs, and 3% biologic treatment. Most patients in both groups were not at risk for aggressive therapy. Extensive colitis was a predictive risk factor for immunosuppression in northern Portugal and Galicia (odds ratio OR 2.737, 95% confidence interval CI: 1.846–4.058; OR 5.799, 95% CI: 3.433–9.795, respectively) and biologic treatment in Galicia (OR 6.329, 95% CI: 2.641–15.166). Younger patients presented a severe course at onset with more frequent use of immunosuppressors in both countries.
Conclusions:
In a large population of UC patients from two independent southern European countries, most patients did not require aggressive therapy, but extensive colitis was a clear risk factor for more severe disease. (Inflamm Bowel Dis 2010)
The combination of electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) is a powerful tool to study brain function. In this study, we present a video-EEG-fMRI system where ...in-bore video, EEG and fMRI are acquired synchronously. To determine the added value of video in a typical EEG-fMRI scenario, we analyzed a simple motor activation paradigm (right index tapping). By using in-bore video, our results show that it is possible to determine different EEG potentials related to motion as well as to clearly distinguish the corresponding blood oxygen level dependent activations.
Background: Given the heterogeneous nature of Crohn's disease (CD), our aim was to apply the Montreal Classification to a large cohort of Portuguese patients with CD in order to identify potential ...predictive regarding the need for medical and/or surgical treatment.
Methods: A cross‐sectional study was used based on data from an on‐line registry of patients with CD.
Results: Of the 1692 patients with 5 or more years of disease, 747 (44%) were male and 945 (56%) female. On multivariate analysis the A2 group was an independent risk factor of the need for steroids (odds ratio OR 1.6, 95% confidence interval CI 1.1–2.3) and the A1 and A2 groups for immunosuppressants (OR 2.2; CI 1.2–3.8; OR 1.4; CI 1.0–2.0, respectively). An L3+L34 and L4 location were risk factors for immunosuppression (OR 1.9; CI 1.5–2.4), whereas an L1 location was significantly associated with the need for abdominal surgery (P < 0.001). After 20 years of disease, less than 10% of patients persisted without steroids, immunosuppression, or surgery. The Montreal Classification allowed us to identify different groups of disease severity: A1 were more immunosuppressed without surgery, most of A2 patients were submitted to surgery, and 52% of L1+L14 patients were operated without immunosuppressants.
Conclusions: Stratifying patients according to the Montreal Classification may prove useful in identifying different phenotypes with different therapies and severity. Most of our patients have severe disease.
(Inflamm Bowel Dis 2009)
Normal Ageing Barkhof, Frederik; Fox, Nick C.; Bastos-Leite, António J. ...
Neuroimaging in Dementia,
10/2010
Book Chapter
Brain ageing can be classified into normal and pathological. The distinction may however be difficult with overlap in nearly all aspects seen on imaging. One of the most severe consequences of ...pathological brain ageing is dementia. Normal ageing may be subdivided into successful ageing (without any discernible deterioration) and the more commonly observed typical (usual) ageing. Typical ageing may encompass a variety of changes in the brain, including overall shrinkage, but also local alterations, such as white matter changes. Many of these ‘normal’ ageing phenomena have been linked to risk factors (e.g. vascular) and although cognitive function may appear preserved, subtle abnormalities may be detected on detailed neuropsychological testing. Such relationships are often only discernible on a group level, and inferences at the level of the individual subject are difficult to provide with any certainty.
Many brain diseases are accompanied by white mater (WM) hyperintensity on T2-weighted (including FLAIR) magnetic resonance imaging (MRI) and by low attenuation on computed tomography (CT) scans. In ...some diseases, hyperintense lesions in the WM may accompany certain primary neurodegenerative (mostly grey matter) disorders, such as multisystem atrophy (MSA) or adult polyglucosan body disease (APBD). A special category is constituted by vascular disease, in which both grey matter and WM are affected (see chapter 6).
Dementia: Clinical Background Barkhof, Frederik; Fox, Nick C.; Bastos-Leite, António J. ...
Neuroimaging in Dementia,
10/2010
Book Chapter
Dementia refers to a clinical syndrome rather than a disease. Dementia is usually defined as an acquired condition involving multiple cognitive impairments that are sufficient to interfere with ...activities of daily living. It is usually but not necessarily progressive. Memory impairment is one of the most common deficits, but other domains such as language, praxis, visual-perceptive and most notably executive functions are often involved. With increasing loss of function due to these cognitive problems, there is progressive difficulty with activities of daily living. Many of the diseases that cause dementia have a relentlessly progressive course with an insidious onset; many have long durations (e.g. 5−10 years from diagnosis) and relatively prolonged end stage period where all self-care and -independence is lost. Dementia places tremendous burdens on patients, their families and carers and on health and social care systems. The most important causes of dementia have an age-related incidence. As a result, the prevalence and societal costs of dementia are predicted to rise dramatically over the coming decades.
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