Assuntos
Trombose Intracraniana/genética , Janus Quinase 2/genética , Mutação , Transtornos Mieloproliferativos/genética , Trombose Venosa/genética , Idoso , Feminino , Predisposição Genética para Doença , Humanos , Trombose Intracraniana/diagnóstico , Trombose Intracraniana/enzimologia , Trombose Intracraniana/terapia , Masculino , Pessoa de Meia-Idade , Transtornos Mieloproliferativos/complicações , Transtornos Mieloproliferativos/diagnóstico , Transtornos Mieloproliferativos/enzimologia , Transtornos Mieloproliferativos/terapia , Fenótipo , Fatores de Risco , Resultado do Tratamento , Trombose Venosa/diagnóstico , Trombose Venosa/enzimologia , Trombose Venosa/terapiaRESUMO
INTRODUCTION: Neoplasia is quite rare in myology. For unknown reasons, muscular metastasis are rarely described in cancer. METHOD: Our work was a retrospective study with analysis of the medical literature and the presentation of one case of muscular metastasis revealed by a limitation of mouth opening in a 58-year-old Caucasian man (metastatic infiltration of the right pterygoid muscle secondary to a poorly differentiated adenocarcinoma of the lower third of the esophagus). RESULTS: In addition to our case, we found 174 cases of cancer with muscular metastasis. Most of cases were observed in males (male/female ratio=2/1). The mean age at onset was 58.5 years (range: 13-89 years). The muscular metastasis were rarely found before the diagnosis of cancer (only in 37%), and usually appeared during disease progression, with other (extramuscular) metastases in 60% of cases. Prognosis was poor with less than 2.5% survival beyond 72 months. In most cases, muscular metastasis presented as a unique (78%), painful (61%) and palpable (63%) muscular mass, even if other asymptomatic muscular metastasis could be present. The mean localization of muscular metastasis was the lower limbs (46%), particularly in the proximal part (38% of all the muscular metastasis). The most frequent cancers were localized in lung, urinary tract, digestive tract and genital tract. When the muscular biopsy showed an "adenocarcinoma", in men the primitive cancers were localized in the digestive tract (35%), kidney (20%), and lung (18%) and in women, the genital tract and breast (23.5%). When the muscular biopsy showed a "squamous-cell carcinoma", in men the primitive cancers were localized in the lung (81%) and in women the cervix (64%). CONCLUSION: These results highlight the importance of searching for muscular metastasis in patients with a focal, painful and palpable muscular mass. The muscular biopsy and immunohistochemical data can be helpful in identifying the primary cancer.
Assuntos
Adenocarcinoma/secundário , Neoplasias Musculares/secundário , Adenocarcinoma/epidemiologia , Adenocarcinoma/patologia , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Neoplasias Esofágicas/patologia , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Musculares/epidemiologia , Neoplasias Musculares/patologia , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/patologia , Invasividade Neoplásica/patologia , Tomografia por Emissão de Pósitrons , Prognóstico , Estudos Retrospectivos , Fatores Sexuais , Análise de Sobrevida , Adulto JovemRESUMO
Despite its widespread use, there are many concerns about the efficacy of aspirin in the secondary prevention of cardiovascular events after stroke, leading to the concept of aspirin non-response (ANR). Although the mechanisms of ANR remain uncertain, it is expected to be due to a combination of clinical, biological and genetic characteristics affecting platelet function. In this study, we investigated whether clinical and/or biological factors such as hypertension and platelet response to ADP could contribute to the ANR. As a secondary objective, we determine whether ANR and collagen/ADP closure time (CADP-CT) could be related to platelet glycoprotein single nucleotide polymorphisms (SNPs). One hundred patients on aspirin (160 mg/day) were enrolled. ANR was measured with a platelet function analyzer (PFA-100); genotyping of four SNPs (GP IIIa, GP Ia, P2Y12 and GP VI) was performed using a tetra-primer amplification refractory mutation system. Using a collagen/epinephrine-coated cartridge on the PFA-100, the prevalence of ANR was 15% (n = 15). In the ANR group, (i) CADP-CT was significantly shorter and (ii) hypertension was an independent clinical predictive factor of ANR (OR = 4.25; 95%CI: 1.06-17.11). No clear relation was found between CADT-CT and platelet gene polymorphism as well as ANR status and SNPs. In conclusion our study confirms the independent relationship between hypertension, platelet hypersensitivity to ADP and aspirin (160 mg/day) non-response. The differential sensitivity to aspirin may have potential clinical implications, where adaptation of antiplatelet therapy is necessary according to a patient's clinical and genetic characteristics.
Assuntos
Difosfato de Adenosina/uso terapêutico , Aspirina/uso terapêutico , Hipertensão/prevenção & controle , Inibidores da Agregação Plaquetária/uso terapêutico , Acidente Vascular Cerebral/tratamento farmacológico , Idoso , Plaquetas/fisiologia , Feminino , Humanos , Hipertensão/sangue , Hipertensão/genética , Masculino , Pessoa de Meia-Idade , Agregação Plaquetária/efeitos dos fármacos , Agregação Plaquetária/genética , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Estudos Prospectivos , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/prevenção & controleRESUMO
In many cases, the diagnostic work-up after a stroke can be greatly enhanced by a thorough examination of the skin, since vasculitis or vasculopathies, even if inherited, may affect cerebral vessels and the skin. Skin abnormalities differ depending on familial history, age of the patient, stroke subtype (cerebral infarct or hemorrhage), and etiology (cervical dissection, cardiac myxoma or small artery disease...).