N/A; N/A
Aim: To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility...
Keywords: Information Science; Publishing; Medical Journalism.; Palavras-chave: Ciência da Informação; Edição; Jornalismo Médico.
Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched contro...
Oral aphthae are ulcerous lesions that affect nonkeratinized mucosae of the mouth cavity, lips, tongue and pharynx. When these lesions reoccur for three or more episodes per year, are named as Recurrent Oral Ulceration (ROU). Although recurring ulcers might be associated with other disorders, ROU usually expresses a primary problem.The main objectives of this study were 1) to determine the prevalence of ROU in ...
Panniculitis is an inflammation occurring within adipose tissue. This process is often associated with auto-immune diseases, infections, malignancy and others diseases of unknown cause. We report a 16-year-old woman with constitutional symptoms and relapsing nonsuppurative nodular panniculitis. The etiological study didn't identify any associated disease, on admission or in 2,5 years of follow-up. This is a cas...
Brachial neuritis, Parsonage–Turner syndrome or neuralgic amyotrophy is an acute neuritis of the brachial plexus or isolated nerves, of unknown aetiology, commonly considered an immune mediated inflammatory process against nerve fibres, which has an annual incidence of 1.64 cases per 100,000 population. The authors report the case of a 59 year–old male with a pathological background of hypertension and hyperlip...
Leprosy is an ancient chronic granulomatous disease caused by Mycobacterium leprae. Prevalence varies greatly from country to country and it represents an important public health problem in developing countries. Despite the efforts of the WHO to eradicate this disease, it has a prevalence greater than 1/10,000 in one group of fifteen countries, led by India and Brazil.Clinical features are skin lesions and sens...