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‣ Kallikrein-Kinin System Mediated Inflammation in Alzheimer`s Disease In Vivo

VIEL, T. A.; BUCK, H. S.
Fonte: BENTHAM SCIENCE PUBL LTD Publicador: BENTHAM SCIENCE PUBL LTD
Tipo: Artigo de Revista Científica
Português
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The Kallikrein-Kinin System (KKS) has been associated to inflammatory and immunogenic responses in the peripheral and central nervous system by the activation of two receptors, namely B1 receptor and B2 receptor. The B1 receptor is absent or under-expressed in physiological conditions, being up-regulated during tissue injury or in the presence of cytokines. The B2 receptor is constitutive and mediates most of the biological effects of kinins. Some authors suggest a link between the KKS and the neuroinflammation in Alzheimer`s disease (AD). We have recently described an increase in bradykinin (BK) in the cerebrospinal fluid and in densities of B1 and B2 receptors in brain areas related to memory, after chronic infusion of amyloid-beta (A beta) peptide in rats, which was accompanied by memory disruption and neuronal loss. Mice lacking B1 or B2 receptors presented reduced cognitive deficits related to the learning process, after acute intracerebroventricular (i.c.v). administration of A. Nevertheless, our group showed an early disruption of cognitive function by i.c.v. chronic infusion of A beta after a learned task, in the knock-out B2 mice. This suggests a neuroprotective role for B2 receptors. In knock-out B1 mice the memory disruption was absent...

‣ Improving Alzheimer`s Disease Diagnosis with Machine Learning Techniques

TRAMBAIOLLI, Lucas R.; LORENA, Ana C.; FRAGA, Francisco J.; KANDA, Paulo A. M.; ANGHINAH, Renato; NITRINI, Ricardo
Fonte: EEG & CLINICAL NEUROSCIENCE SOC (E C N S) Publicador: EEG & CLINICAL NEUROSCIENCE SOC (E C N S)
Tipo: Artigo de Revista Científica
Português
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There is not a specific test to diagnose Alzheimer`s disease (AD). Its diagnosis should be based upon clinical history, neuropsychological and laboratory tests, neuroimaging and electroencephalography (EEG). Therefore, new approaches are necessary to enable earlier and more accurate diagnosis and to follow treatment results. In this study we used a Machine Learning (ML) technique, named Support Vector Machine (SVM), to search patterns in EEG epochs to differentiate AD patients from controls. As a result, we developed a quantitative EEG (qEEG) processing method for automatic differentiation of patients with AD from normal individuals, as a complement to the diagnosis of probable dementia. We studied EEGs from 19 normal subjects (14 females/5 males, mean age 71.6 years) and 16 probable mild to moderate symptoms AD patients (14 females/2 males, mean age 73.4 years. The results obtained from analysis of EEG epochs were accuracy 79.9% and sensitivity 83.2%. The analysis considering the diagnosis of each individual patient reached 87.0% accuracy and 91.7% sensitivity.

‣ Voiding Dysfunction in Patients With Parkinson`s Disease: Impact of Neurological Impairment and Clinical Parameters

SAMMOUR, Zein M.; GOMES, Cristiano M.; BARBOSA, Egberto R.; LOPES, Roberto I.; SALLEM, Flavio S.; TRIGO-ROCHA, Flavio E.; BRUSCHINI, Homero; Srougi, Miguel
Fonte: WILEY-LISS Publicador: WILEY-LISS
Tipo: Artigo de Revista Científica
Português
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Aims: We assessed the lower urinary tract symptoms (LUTS) of patients with Parkinson`s disease (PD) and their association with different clinical parameters. Methods: We prospectively evaluated 110 patients (84 men), with a mean age of 61.8 +/- 9.6 years. Mean duration of the disease was 12.3 +/- 7.2 years. Neurological impairment was assessed by the Hoehn-Yahr and the Unified Parkinson Disease Rating scales. LUTS were assessed by the International Continence Society questionnaire. We evaluated the impact of age, PD duration, neurological impairment, gender, and use of anti-Parkinsonian drugs on the voiding function. Results: On multivariate analysis, voiding dysfunction increased with the neurological impairment, but not with patient`s age or disease duration. Quality of life (QOL) was affected by the severity of LUTS, and the symptoms with the worst impact were frequency and nocturia. Sixty-three (57.2%) patients were symptomatic. They did not differ with the asymptomatic as to age and disease duration, but had more severe neurological impairment. No impact on LUTS was associated with the use of levodopa, anticholinergics, and dopamine receptor agonists. Men and women were similarly affected by urinary symptoms. Conclusions: The severity of the neurological disease is the only predictive factor for the occurrence of voiding dysfunction...

‣ Increased platelet GSK3B activity in patients with mild cognitive impairment and Alzheimer`s disease

FORLENZA, Orestes V.; TORRES, Carolina A.; TALIB, Leda L.; PAULA, Vanessa J. de; JOAQUIM, Helena P. G.; DINIZ, Breno S.; GATTAZ, Wagner F.
Fonte: PERGAMON-ELSEVIER SCIENCE LTD Publicador: PERGAMON-ELSEVIER SCIENCE LTD
Tipo: Artigo de Revista Científica
Português
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The disruption of glycogen synthase kinase 3-beta (GSK3B) homeostasis has implications in the pathophysiology of neuropsychiatric disorders, namely Alzheimer`s disease (AD). GSK3B activity is increased within the AD brain, favoring the hyperphosphorylation of microtubule-associated protein Tau and the formation of neurofibrillary tangles. Such abnormality has also been detected in leukocytes of patients with cognitive disorders. The aim of the present study was to determine the expression of total and phosphorylated GSK3B at protein level in platelets of older adults with varying degrees of cognitive impairment, and to compare GSK3B activity in patients with AD, mild cognitive impairment (MCI) and healthy controls. Sixty-nine older adults were included (24 patients with mild to moderate AD, 22 patients with amnestic MCI and 23 elderly controls). The expression of platelet GSK3B (total- and Ser-9 phosphorylated GSK3B) was determined by Western blot. GSK3B activity was indirectly assessed by means of the proportion between phospho-GSK3B to total GSK3B (GSK3B ratio), the former representing the inactive form of the enzyme. Ser-9 phosphorylated GSK3B was significantly reduced in patients with MCI and AD as compared to controls (p = 0.04). Platelet GSK3B ratio was significantly decreased in patients with MCI and AD (p = 0.04)...

‣ Validity of a Brazilian version of the Zung self-rating depression scale for screening of depression in patients with Parkinson`s disease

CHAGAS, Marcos Hortes Nisihara; TUMAS, Vitor; LOUREIRO, Sonia Regina; HALLAK, Jaime E. C.; TRZESNIAK, Clarissa; SOUSA, Joao Paulo Machado de; RODRIGUES, Guilherme Gustavo Ricciopo; SANTOS FILHO, Alaor; CRIPPA, Jose Alexandre S.
Fonte: ELSEVIER SCI LTD Publicador: ELSEVIER SCI LTD
Tipo: Artigo de Revista Científica
Português
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Introduction: Parkinson`s disease (PD) is a neurodegenerative disorder with prominent motor manifestations and many other non-motor symptoms that significantly decrease quality-of-life and are frequently under-recognized, for example depression. Objective: To study the validity of a Brazilian version of the Zung Self-rating Depression Scale (SDS) for the diagnosis of depression in patients with PD. Methods: We evaluated 78 consecutive non demented patients over the age of 40 with diagnosis of PD at a Movement Disorders Outpatient Clinic, who could read and understand questionnaires. They completed the SIDS and the Geriatric Depression Scale with 15 items (GDS-15). The diagnosis of depression was made after a structured clinical interview based on DSM-IV criteria for the diagnosis of major depression (SCID-CV). Results: The prevalence of major depression was 23.1%. Cronbach`s alpha was 0.73 and the area under the ROC curve was 0.93 for the SDS. The score index of 55 had a sensitivity of 88.9% and a specificity of 83.3% for the diagnosis of depression. The total scores of the SDS and GDS-15 were highly correlated (0.652, p < 0.0001) and correlated weakly with the scores of a motor scale. Discussion: The SIDS is a valid too] for screening depression in patients with PD since the specific SDS index of 55 is adopted. Two shortened versions could be used with good results. (C) 2009 Published by Elsevier Ltd.; Conselho Nacional de Pesquisa (CNPq...

‣ Cannabidiol for the treatment of psychosis in Parkinson`s disease

ZUARDI, A. W.; CRIPPA, J. A. S.; HALLAK, J. E. C.; PINTO, J. P.; CHAGAS, M. H. N.; RODRIGUES, G. G. R.; DURSUN, S. M.; TUMAS, V.
Fonte: SAGE PUBLICATIONS LTD Publicador: SAGE PUBLICATIONS LTD
Tipo: Artigo de Revista Científica
Português
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The management of psychosis in Parkinson`s disease (PD) has been considered a great challenge for clinicians and there is a need for new pharmacological intervention. Previously an antipsychotic and neuroprotective effect of Cannabidiol (CBD) has been suggested. Therefore, the aim of the present study was to directly evaluate for the first time, the efficacy, tolerability and safety of CBD on PD patients with psychotic symptoms. This was an open-label pilot study. Six consecutive outpatients (four men and two women) with the diagnosis of PD and who had psychosis for at least 3 months were selected for the study. All patients received CBD in flexible dose (started with an oral dose of 150 mg/day) for 4 weeks, in addition to their usual therapy. The psychotic symptoms evaluated by the Brief Psychiatric Rating Scale and the Parkinson Psychosis Questionnaire showed a significant decrease under CBD treatment. CBD did not worsen the motor function and decreased the total scores of the Unified Parkinson`s Disease Rating Scale. No adverse effect was observed during the treatment. These preliminary data suggest that CBD may be effective, safe and well tolerated for the treatment of the psychosis in PD.; Conselho Nacional de Desenvolvimento Cientifico e Tecnologico` (CNPq-Brazil)[554490/2005-6]; Fundacao de Amparo a Pesquisa do Estado de Sao Paulo fellowship` (FAPESP)[-02/13197-2]; THC-Pharm (Frankfurt...

‣ Single Intranasal Administration of 1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine in C57BL/6 Mice Models Early Preclinical Phase of Parkinson`s Disease

PREDIGER, Rui D. S.; AGUIAR JR., Aderbal S.; ROJAS-MAYORQUIN, Argelia Esperanza; FIGUEIREDO, Claudia P.; MATHEUS, Filipe C.; GINESTET, Laure; CHEVARIN, Caroline; BEL, Elaine Del; MONGEAU, Raymond; HAMON, Michel; LANFUMEY, Laurence; RAISMAN-VOZARI, Rita
Fonte: SPRINGER Publicador: SPRINGER
Tipo: Artigo de Revista Científica
Português
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Many studies have shown that deficits in olfactory and cognitive functions precede the classical motor symptoms seen in Parkinson`s disease (PD) and that olfactory testing may contribute to the early diagnosis of this disorder. Although the primary cause of PD is still unknown, epidemiological studies have revealed that its incidence is increased in consequence of exposure to certain environmental toxins. In this study, most of the impairments presented by C57BL/6 mice infused with a single intranasal (i.n.) administration of the proneurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) (1 mg/nostril) were similar to those observed during the early phase of PD, when a moderate loss of nigral dopamine neurons results in olfactory and memory deficits with no major motor impairments. Such infusion decreased the levels of the enzyme tyrosine hydroxylase in the olfactory bulb, striatum, and substantia nigra by means of apoptotic mechanisms, reducing dopamine concentration in different brain structures such as olfactory bulb, striatum, and prefrontal cortex, but not in the hippocampus. These findings reinforce the notion that the olfactory system represents a particularly sensitive route for the transport of neurotoxins into the central nervous system that may be related to the etiology of PD. These results also provide new insights in experimental models of PD...

‣ Mice with genetic deletion of the heparin-binding growth factor midkine exhibit early preclinical features of Parkinson`s disease

PREDIGER, Rui D. S.; ROJAS-MAYORQUIN, Argelia E.; AGUIAR JR., Aderbal S.; CHEVARIN, Caroline; MONGEAU, Raymond; HAMON, Michel; LANFUMEY, Laurence; BEL, Elaine Del; MURAMATSU, Hisako; COURTY, Jose; RAISMAN-VOZARI, Rita
Fonte: SPRINGER WIEN Publicador: SPRINGER WIEN
Tipo: Artigo de Revista Científica
Português
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There is considerable evidence showing that the neurodegenerative processes that lead to sporadic Parkinson`s disease (PD) begin many years before the appearance of the characteristic motor symptoms and that impairments in olfactory, cognitive and motor functions are associated with time-dependent disruption of dopaminergic neurotransmission in different brain areas. Midkine is a 13-kDa retinoic acid-induced heparin-binding growth factor involved in many biological processes in the central nervous system such as cell migration, neurogenesis and tissue repair. The abnormal midkine expression may be associated with neurochemical dysfunction in the dopaminergic system and cognitive impairments in rodents. Here, we employed adult midkine knockout mice (Mdk(-/-)) to further investigate the relevance of midkine in dopaminergic neurotransmission and in olfactory, cognitive and motor functions. Mdk(/-) mice displayed pronounced impairments in their olfactory discrimination ability and short-term social recognition memory with no gross motor alterations. Moreover, the genetic deletion of midkine decreased the expression of the enzyme tyrosine hydroxylase in the substantia nigra reducing partially the levels of dopamine and its metabolites in the olfactory bulb and striatum of mice. These findings indicate that the genetic deletion of midkine causes a partial loss of dopaminergic neurons and depletion of dopamine...

‣ Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson`s Disease

SIDRANSKY, E.; NALLS, M. A.; AASLY, J. O.; AHARON-PERETZ, J.; ANNESI, G.; BARBOSA, E. R.; BAR-SHIRA, A.; BERG, D.; BRAS, J.; BRICE, A.; CHEN, C. -M.; CLARK, L. N.; CONDROYER, C.; MARCO, E. V. De; DUERR, A.; EBLAN, M. J.; FAHN, S.; FARRER, M. J.; FUNG, H.
Fonte: MASSACHUSETTS MEDICAL SOC Publicador: MASSACHUSETTS MEDICAL SOC
Tipo: Artigo de Revista Científica
Português
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Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher`s disease, among patients with Parkinson`s disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson`s disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson`s disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%...

‣ FOCAL ENHANCED GASTRITIS AND MACROPHAGE MICROAGGREGATES IN THE GASTRIC MUCOSA: potential role in the differential diagnosis between Crohn’s disease and ulcerative colitis

MAGALHÃES-COSTA,Marcia Henriques de; REIS,Beatriz Ribeiro dos; CHAGAS,Vera Lúcia Antunes; NUNES,Tiago; SOUZA,Heitor Siffert Pereira de; ZALTMAN,Cyrla
Fonte: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED Publicador: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2014 Português
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Context and Objectives Focally enhanced gastritis and macrophage microaggregates are found in the upper gastrointestinal involvement of Crohn’s disease, and may reflect an underlying defective innate immunity. These features, however, are also described in patients with Helicobacter pylori infection. The role of these gastric abnormalities in the diagnosis of Crohn’s disease was assessed in a population with high prevalence of H. pylori infection. Methods Thirty-seven Crohn’s disease, 26 ulcerative colitis, and 30 control patients were included. The H. pylori status was evaluated by the rapid urease test and histology. The presence of focally enhanced gastritis and macrophage microaggregates was recorded. Results Focally enhanced gastritis was present in 24% of Crohn’s disease patients, 4% of ulcerative colitis patients and 11.5% of controls, presenting an overall sensitivity and specificity for Crohn’s disease of 24% and 88%, respectively. Macrophage microaggregates were found in all groups, but were only detected in ulcerative colitis and controls in association with H. pylori infection, with an overall sensitivity and specificity for Crohn’s disease of 61% and 69%, respectively. In the absence of H. pylori infection...

‣ Depression increases in patients with Parkinson?s disease according to the increasing severity of the cognitive impairment

Chagas,Marcos Hortes N.; Moriyama,Tais S.; Felício,André C.; Sosa,Ana Luisa; Bressan,Rodrigo A.; Ferri,Cleusa P.
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2014 Português
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Objective : To test the hypothesis that severity of cognitive impairment modifies the association between depression and Parkinson’s disease (PD). Method : One-phase population-based door-to-door surveys. This is a secondary analysis of 1,451 people aged 65 years and older with cognitive impairment living in defined catchment areas. Depression was estimated according to ICD-10, self-reported PD, disability according to WHODAS-II and cognitive status according to the CSI-D. Results : The mean age of the sample was 79.3 years old and most (69%) were women. Of the total sample, 16.1% had depression and it was significantly higher among participants with PD. There was an increase on the ORs of the association between depression and PD with decreased scores in the cognitive test (Adjusted OR from 0.98 to 8.04). Conclusion : The association between depression and PD increases with the severity of the cognitive impairment.

‣ Wilson?s disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment

Tribl,Gotthard G.; Bor-Seng-Shu,Edson; Trindade,Mateus C.; Lucato,Leandro T.; Teixeira,Manoel J.; Barbosa,Egberto R.
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2014 Português
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Objective To describe characteristics of REM sleep behavior disorder in Wilson’s disease. Method Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. Results Four Wilson’s disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as initial symptom. All showed mesencephalic tegmental/tectal sonographic hyperechogenicities and two presented ponto-mesencephalic tegmental MRI hyperintensities. Conclusion This first description of REM sleep behavior disorder in Wilson’s disease in literature documents REM sleep behavior disorder as a possible presenting symptom of Wilson’s disease and adds further evidence to the parallelism of Parkinson’s disease and Wilson’s disease in phenotype and brainstem topography, which ought to be further studied. REM sleep behavior disorder has prognostic relevance for neurodegeneration in α-synucleinopathies. In Wilson’s disease, usefulness of early diagnosis and treatment are already well established. REM sleep behavior disorder in Wilson’s disease offers a possible theoretical model for potential early treatment in this extrapyramidal and brainstem paradigm syndrome...

‣ Coherence of brain electrical activity: a quality of life indicator in Alzheimer’s disease?Coerência da atividade elétrica cerebral: indicador da qualidade de vida na doença de Alzheimer?

Fonseca,Lineu Corrêa; Tedrus,Gloria M. A. S.; Rezende,Ana Laura R. A.; Giordano,Heitor F.
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/05/2015 Português
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Objective To investigate the relationships between quality of life (QOL) and clinical and electroencephalogram (EEG) aspects in patients with Alzheimer’s disease (AD). Method Twenty-eight patients with mild or moderate AD, 31 with Parkinson’s disease (PD), and 27 normal controls (NC) were submitted to: CERAD neuropsychological battery, Hamilton Depression and Anxiety Rating Scales, Functional Activities Questionnaire, QOL scale for patients with AD, and quantitative EEG measures. Results AD and PD patients had similar QOL (31.0 ± 5.8; 31.7 ± 4.8, respectively), worse than that of NC (37.5 ± 6.3). AD patients had lower global interhemispheric theta coherence (0.49 ± 0.04; 0.52 ± 0.05; 0.52 ± 0.05; respectively) than PD and NC. Multiple linear regression for QOL of AD patients revealed that global interhemispheric theta coherence, and Hamilton depression scores were significant factors (coefficients; 58.2 and -0.27, respectively; R2, 0.377). Conclusion Interhemispheric coherence correlates with QOL regardless of cognitive and functional variables and seems to be a neurophysiological indicator of QOL in AD patients.

‣ Protective effect of the APOE-e3 allele in Alzheimer’s disease

de-Almada,B.V.P.; de-Almeida,L.D.; Camporez,D.; de-Moraes,M.V.D.; Morelato,R.L.; Perrone,A.M.S.; Belcavello,L.; Louro,I.D.; de-Paula,F.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/01/2012 Português
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Although several alleles of susceptibility to Alzheimer’s disease (AD) have been studied in the last decades, few polymorphisms have been considered as risk factors for the disease. Among them, the APOE-e4 allele appears to be the major genetic risk factor for the onset of the disease. However, it is important to confirm the potential susceptibility of these genetic variants in different populations in order to establish a genetic profile for the disease in specific communities. This study analyzed the APOE polymorphisms regarding susceptibility to AD in a sample of 264 individuals (primarily Caucasians; 82 cases and 182 controls) in the population from Vitória, ES, Brazil, by PCR restriction fragment length polymorphism (PCR-RFLP) methods. The patients were selected according to clinical criteria for probable AD. Whereas the e4 allele showed statistically significant positive association with susceptibility to AD (OR = 3.01, 95%CI = 1.96-4.61; P < 0.0001), the e2 allele did not. The results of the e4 allele confirm the role of this polymorphism as a risk factor for AD in the sample studied as observed in other populations. Although the e3 allele has been considered neutral in several studies, our results suggest that it acts as a protective factor against AD in the population studied (OR = 0.46...

‣ The accuracy of acetylcholinesterase reaction in rectal suction biopsy in the diagnosis of Hirschsprung’s disease

Gugelmin,Elizabeth S.; Torres,Luiz Fernando B.
Fonte: Sociedade Brasileira de Patologia Clínica; Sociedade Brasileira de Patologia; Sociedade Brasileira de Citopatologia Publicador: Sociedade Brasileira de Patologia Clínica; Sociedade Brasileira de Patologia; Sociedade Brasileira de Citopatologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2005 Português
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Suction rectal biopsy with acetylcholinesterase (AChE) histochemistry has been recognized as a reliable method for the diagnosis of Hirschsprung’s disease (HD). This study compares the final pathologic diagnosis made on paraffin embedded material of 68 colectomy specimens with the histochemical AChE reaction from the same patients previously diagnosed as HD by rectal suction biopsy at the Hospital Infantil Pequeno Príncipe (Curitiba, Brazil) from 1988 to 1999. The group included 58 male and ten female patients with ages ranging from 7 days to 10 years. Thirty-six patients (52.94%) where under 1 year of age at time of surgery. Two of the 68 patients had previous normal histochemical reactions for AChE: one of them resulted a normal ganglionic segment of bowel and the other one was a 15-day-old boy with total colonic aganglionosis, the only false-negative result in this series. Two patients had inconclusive results and because untreatable clinical symptoms also received surgical treatment. One of them resulted a normal ganglionic bowel and the other one was diagnosed as HD. All surgical specimens from the other 64 patients resulted in various extents of aganglionosis presenting prominent nerve trunks in the submucosal and myenteric plexuses...

‣ Avaliação do impacto do treinamento de clínica em hanseníase e sua contribuição para o aumento da detecção da doença no Estado do Rio Grande do Norte; Evaluation of the impact of the training programs in clinical diagnosis of hansens´s disease and of its contribution to the increase of cases detected in the state of Rio Grande do Norte

Moreno, Cléa Maria da Costa
Fonte: Universidade Federal do Rio Grande do Norte; BR; UFRN; Programa de Pós-Graduação em Enfermagem; Assistência à Saúde Publicador: Universidade Federal do Rio Grande do Norte; BR; UFRN; Programa de Pós-Graduação em Enfermagem; Assistência à Saúde
Tipo: Dissertação Formato: application/pdf
Português
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Hansen´s disease is considered a serious public health problem. In 2006, the Ministry of Health reported that worldwide, Brazil ranked 2nd in the number of cases of the disease, surpassed only by India. The North region is the geographical area in Brazil that presents the most cases. In the state of Rio Grande do Norte, the disease is considered to be eliminated because its prevalence has been identified as 1 per 10.000 inhabitants, criteria established by the State Elimination Letter of 2005. Training programs have been offered by the Coordination for the Control of Hansen´s Disease Program of Rio Grande do Norte, PCH-RN since 1997, with the support of the English governmental agency Leprosy Relief Association, LRA, with no evaluation having been conducted. The objective of this study was to evaluate the training programs in clinical diagnosis of Hansen´s disease and their contribution to the detection of the disease in the state of Rio Grande do Norte. The study was conducted in seven municipalities that are known as Regional Public Health Units (URSAPs): São José de Mipibu URSAP I, Mossoró URSAP II, João Câmara URSAP III, Caicó URSAP IV, Santa Cruz URSAP V, Pau dos Ferros URSAP VI and Natal, capital city of the State...

‣ Langzeitverlauf nach Rektumwandverschiebelappen bei Patienten mit Morbus Crohn; Long-term outcome after transanal flap repairs of perianal fistulas in patients with Crohn´s disease

Lutz, Angelika R.
Fonte: Universidade de Tubinga Publicador: Universidade de Tubinga
Tipo: Dissertação
Português
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Ziel dieser Studie war es, den Langzeitverlauf von Morbus-Crohn-Patienten zu untersuchen, bei denen transsphinktäre Analfisteln mittels eines Rektumwandverschiebe-lappens verschlossen worden waren. Der für die Fragestellung der Studie relevante Beobachtungszeitraum erstreckte sich für den jeweiligen Patienten vom Zeitpunkt seiner ersten Flap-OP bis zum Auftreten eines Fistelrezidivs bzw. bis zum letzten wahrgenommenen Untersuchungstermin, an dem der Fistelverschluss noch intakt war (durchschnittlich 3 Jahre und 11 Monate, Range: 1 Monat- 10 Jahre und 11 Monate). Es wurden insgesamt 53 Patienten berücksichtigt, an denen 62 Flap-OP`s durchgeführt wurden. Das Auftreten eines Rezidivs im Langzeitverlauf wurde, in Abhängigkeit von den Parametern „Befallsmuster“ des Morbus Crohn, „Fisteltyp“, „Medikamente“ und gegebenenfalls eines „Stomas“, mittels Logrank-Test und Wilcoxon-Test verglichen. Das Signifikanzniveau alpha wurde auf 5% festgesetzt. Nach den Kaplan-Meier-Überlebenskurven entwickelten 55% aller operierten Fisteln ein Rezidiv. Nach 10 Jahren lag die Wahrscheinlichkeit eines Fistelverschlusses bei 29%. In der Gruppe mit nur einer Flap-OP pro Patient entwickelten 43% ein Rezidiv. Hier lag die Wahrscheinlichkeit eines Fistelverschlusses nach 10 Jahren bei 33%. In der Gruppe mit mindestens zwei Flap-OP`s pro Patient entwickelten 80% der operierten Fisteln ein Rezidiv. Die Wahrscheinlichkeit eines Fistelverschlusses lag nach 9 Jahren bei 19%. Bei Betrachtung aller 62 Flap-OP`s zeigte sich hinsichtlich des Auftretens eines Rezidivs ein signifikanter Unterschied zwischen Crohn-Befall und Nicht-Befall des Colon (p= 0...

‣ Association study in Alzheimer’s disease of single nucleotide polymorphisms implicated with coffee consumption

Yamamoto,Victor Junji; Paula,Vanessa de Jesus Rodrigues de; Forlenza,Orestes Vicente; Santos,Bernardo dos; Kerr,Daniel Shikanai
Fonte: Faculdade de Medicina da Universidade de São Paulo Publicador: Faculdade de Medicina da Universidade de São Paulo
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2015 Português
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Background There is evidence from animal and in vitro models of the protective effects of caffeine in Alzheimer’s disease. The suggested mechanisms through which caffeine may protect neurons against Alzheimer’s disease pathology include the facilitation of beta-amyloid clearance, upregulation of cholinergic transmission, and increased neuronal plasticity and survival. Epidemiological studies support that Alzheimer’s disease patients consume smaller amounts of coffee beverages throughout their lives as compared to age-matched cognitively healthy individuals. Objective The aim of the present study was to determine whether the negative association between Alzheimer’s disease and coffee consumption may be influenced by a common genetic predisposition, given the fact that the pattern of coffee consumption is determined by both environmental and genetic factors. Method We conducted an in silico search addressing the association between genetic polymorphisms related to coffee consumption and the diagnosis of Alzheimer’s disease. We further investigated the interactions between genes located in regions bearing these polymorphisms. Results Our analysis revealed no evidence for a genetic association (nor interaction between related proteins) involving coffee consumption and Alzheimer’s disease. Discussion The negative association between Alzheimer’s disease and coffee consumption suggested by epidemiological studies is most likely due to environmental factors that are not necessarily regulated by genetic background.

‣ Alpha-synuclein A53T mutation is not frequent on a sample of Brazilian Parkinson’s disease patients

Longo,Gabriela S.; Pinhel,Marcela A. S.; Gregório,Michele L.; Oliveira,Bruno A. P.; Quinhoneiro,Driele C. G.; Tognola,Waldir A.; Oliveira,Fábio N.; Martins,Denise Poltronieri; M. Cezario,Sabrina; Sado,Caroline L.; Nakazone,Marcelo A.; Calastri,Maria C.
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2015 Português
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Introduction The pathogenesis of Parkinson’s disease (PD) involves both genetic susceptibility and environmental factors, with focus on the mutation in thealpha-synucleingene (SNCA).Objective To analyse the polymorphism SNCA-A53T in patients with familial PD (FPD) and sporadic PD (SPD).Method A total of 294 individuals were studied, regardless of sex and with mixed ethnicity. The study group with 154 patients with PD, and the control group included 140 individuals without PD. The genotyping ofSNCA-A53T was performed by PCR/RFLP. Significance level was p < 0.05.Results Among all patients, 37 (24%) had FPD and 117 (75.9%) had SPD. The absence ofSNCA-A53T mutation was observed in all individuals.Conclusion SPD is notably observed in patients. However, the SNCA-A53T mutation was absent in all individuals, which does not differ controls from patients. This fact should be confirmed in a Brazilian study case with a more numerous and older population.

‣ The role of tau in the pathological process and clinical expression of Huntington?s disease

Vuono, Romina; Winder-Rhodes, Sophie; de Silva, Rohan; Cisbani, Giulia; Drouin-Ouellet, Janelle; REGISTRY Investigators of the European Huntington?s Disease Network; Spillantini, Maria G.; Cicchetti, Francesca; Barker, Roger A.
Fonte: OUP Publicador: OUP
Tipo: Article; published version
Português
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This is the final version of the article. It was first available from Oxford University Press viahttp://dx.doi.org/10.1093/brain/awv107; Huntington's disease is a neurodegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HTT. While several genetic modifiers, distinct from the Huntington's disease locus itself, have been identified as being linked to the clinical expression and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and clinical features, especially the dementia, are not fully understood. Recently the microtubule associated protein tau, MAPT, which is associated with several neurodegenerative disorders, has been implicated in Huntington's disease. We explored this association in more detail at the neuropathological, genetic and clinical level. We first investigated tau pathology by looking for the presence of hyperphosphorylated tau aggregates, co-localization of tau with mutant HTT and its oligomeric intermediates in post-mortem brain samples from patients with Huntington's disease (n = 16) compared to cases with a known tauopathy and healthy controls. Next, we undertook a genotype-phenotype analysis of a large cohort of patients with Huntington's disease (n = 960) with a particular focus on cognitive decline. We report not only on the tau pathology in the Huntington's disease brain but also the association between genetic variation in tau gene and the clinical expression and progression of the disease. We found extensive pathological inclusions containing abnormally phosphorylated tau protein that co-localized in some instances with mutant HTT. We confirmed this related to the disease process rather than age...