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The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma
Get PDFNon-Hodgkin lymphoma (NHL) has been associated with immunological defects, chronic inflammatory and autoimmune conditions. Given the link between immune dysfunction and NHL, genetic variants in toll-like receptors (TLRs) have been regarded as potential predictive factors of susceptibility to NHL. Adequate anti-tumoral responses are known to depend on TLR9 function, such that the use of its synthetic ligand is being targeted as a therapeutic strategy. We investigated the association between the functional rs5743836 polymorphism in the TLR9 promoter and risk for B-cell NHL and its major subtypes in three independent case-control association studies from Portugal (1160 controls, 797 patients), Italy (468 controls, 494 patients) and the US (972 controls, 868 patients). We found that the rs5743836 polymorphism was significantly overtransmitted in both Portuguese (odds ratio (OR), 1.85; P=7.3E-9) and Italian (OR, 1.84; P=6.0E-5) and not in the US cohort of NHL patients. Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harboring rs5743836 further supports a functional effect of this polymorphism on NHL susceptibility in a population-dependent manner
Diversity in anti-N-methyl-D-aspartate receptor encephalitis: case-based evidence
Get PDFAntibodies against N-methyl-D-aspartate receptor (NMDAR) are identified in the form of immune-mediated encephalitis in which typical manifestations include neuropsychiatric symptoms, seizures, abnormal movements, dysautonomia and hypoventilation. The authors report two cases of anti-NMDAR encephalitis with different presentations and patterns of progression. The first patient presented with status epilepticus and later developed psychosis, pyramidal signs and diffuse encephalopathy. The second patient presented with acute psychosis followed a week later by seizures, dystonia, rigidity, oromandibular dyskinesias and dysautonomia. Possible mechanisms responsible for the clinical manifestations of this disease are discussed in light of recently described additional clinical and laboratory findings
Caseous calcification of the mitral annulus: A multi-modality imaging perspective
Get PDFMitral annulus calcification is a common echocardiographic finding, particularly in the elderly and in end-stage renal disease patients under chronic dialysis. Caseous calcification or liquefaction necrosis of mitral annulus calcification is a rare evolution of mitral annular calcification. Early recognition of this entity avoids an invasive diagnostic approach, since it is benign and, unlike intracardiac tumors and abscesses, has a favorable prognosis. The authors present the case of an 84-year-old woman with a suspicious large, echodense mass at the level of the posterior mitral leaflet with associated severe mitral regurgitation. Cardiac magnetic resonance imaging demonstrated a hypoperfused mass with strong peripheral enhancement 10 minutes after gadolinium administration. Multislice computed tomography showed the calcified nature of the mass. A multi-modality imaging approach confirmed the diagnosis of caseous calcification of the posterior mitral annulus. The patient refused surgical treatment
PFAPA syndrome - Clinical case
Get PDFIntrodução - A Síndrome PFAPA (periodic fever, aphtous
stomatitis, pharyngitis, cervical adenitis) caracteriza-se por
episódios recorrentes de febre elevada, estomatite aftosa,
adenite cervical e faringite que ocorre maioritariamente em
crianças com idade inferior a cinco anos. A etiopatogenia é
desconhecida e o diagnóstico é clínico e de exclusão.
Com este trabalho pretendemos realizar uma revisão de
literatura - clínica, diagnóstico e tratamento - complementada
com a apresentação de um caso clínico.
Materiais e métodos – Pesquisa bibliográfica e análise
documental realizada através da base de dados da Medline,
Pubmed e Ovid.
Resultados - O uso de antibióticos ou cimetidina é ineficaz,
enquanto a corticoterapia e a amigdalectomia, com ou sem
adenoidectomia, reduzem a sintomatologia.
Conclusões - A síndrome PFAPA é uma patologia rara, cujo
reconhecimento pode ser difícil. O tratamento médico mais
eficaz é a corticoterapia que, porém, não previne futuras recorrências. A terapêutica mais eficaz na resolução a longo prazo da sintomatologia é a amigdalectomia