Navegando por Palavras-chave "clinical features"

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    Adult onset sporadic ataxias: a diagnostic challenge
    (Academia Brasileira de Neurologia - ABNEURO, 2014-03-01) Barsottini, Orlando Graziani Povoas [UNIFESP]; Albuquerque, Marcus Vinicius Cristino De; Braga Neto, Pedro; Pedroso, José Luiz; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual do Ceará Centro de Ciências da Saúde
    Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.
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    A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
    (Assoc Arquivos Neuro- Psiquiatria, 2016) Araujo Salomao, Rubens Paulo [UNIFESP]; Pedroso, Jose Luiz [UNIFESP]; Drumond Gama, Maria Thereza [UNIFESP]; Dutra, Livia Almeida [UNIFESP]; Maciel, Ricardo Horta; Godeiro-Junior, Clecio; Chien, Hsin Fen; Teive, Hello A. G.; Cardoso, Francisco; Barsottini, Orlando G. P. [UNIFESP]
    Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
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    Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil
    (Wiley-Blackwell, 1996-10-01) Figueiredo, Maria Stella [UNIFESP]; Kerbauy, José [UNIFESP]; Goncalves, M. S.; Arruda, V. R.; Saad, STO; Sonati, M. F.; Stoming, T.; Costa, F. F.; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP); MED COLL GEORGIA
    To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the beta-globin-like gene cluster haplotype and alpha-thalassemia upon the clinical and hematological features in 85 patients, the distribution of haplotypes differed from that in the United States and Jamaica, the Central African Republic (CAR) haplotype predominated; 34% of patients were CAR haplotype homozygotes, 45% CAR/Benin homozygotes, and 71% Benin homozygotes. No Senegal haplotype chromosomes were observed, alpha-thalassemia was present in 17.5% of patients, HbF levels were higher in Benin homozygotes, compared with the other two groups (P < 0.05). Nearly half the patients with a CAR haplotype had leg ulcers, compared to 12.5% of the Benin homozygote group; stroke did not occur in alpha-thalassemia carriers, but neither result was statistically significant. As in other studies, our results indicate that the CAR haplotype may be associated with more severe disease. (C) 1996 Wiley-Liss, Inc.
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    Evaluation of the European Spondylarthropathy Study Group (ESSG) preliminary classification criteria in Brazilian patients
    (Clinical & Exper Rheumatology, 1997-01-01) Cury, Silvia Elisa [UNIFESP]; Vilar, Maria José Pereira [UNIFESP]; Ciconelli, Rozana Mesquita [UNIFESP]; Ferraz, Marcos Bosi [UNIFESP]; Atra, Edgard [UNIFESP]; UNIV FED RIO GRANDE NORTE; Universidade Federal de São Paulo (UNIFESP)
    Objective: To evaluate the sensitivity and specificity of the ESSG criteria when applied to Brazilian patients with SpA and control patients with other rheumatic diseases.Methods: Seventy patients with spondylarthropathies and 62 patients with other rheumatic diseases were interviewed, examined and had their charts reviewed. The diagnoses of the diseases were based on published diagnostic guidelines or classification criteria. Data were also collected according to the ESSG criteria.Results: The sensitivity and specificity of the ESSG classification criteria were 98.5% and 88.7%, respectively. The sensitivities of the criteria in the different subgroups of SpA ranged from a low Of 97.7% in AS to a high of 100% in other SpA studied.Conclusion: Despite differences in the socio-cultural and geographic characteristics and in individual disease frequencies, the ESSG preliminary classification criteria performed well when applied to Brazilian patients.