RESUMO
Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).
Assuntos
Miosinas Cardíacas/genética , Cardiomiopatia Hipertrófica/genética , Miopatias Distais/genética , Mutação/genética , Cadeias Pesadas de Miosina/genética , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , LinhagemRESUMO
Aim of the study was to evaluate [99mTc]hexamethyl-propylamine-oxime (HMPAO) leukocyte scintigraphy for the assessment of disease activity and extent in inflammatory bowel disease patients. Results and scores of scintigraphy using [99mTc]HMPAO-labeled leukocytes were retrospectively compared with the activity index of van Hees, laboratory parameters, and gastroenterologists' assessment of disease using endoscopy, radiology, and histology plus clinical parameters in 136 patients with Crohn's disease (115) and ulcerative colitis (21) and in 29 controls. There were 114 positive and 22 negative [99mTc]HMPAO leukocyte scintigrams. Sensitivities for active disease at 1 and 3 hr were 98% and 98% and specificities were 100% and 83%, respectively. [99mTC]HMPAO leukocyte scintigraphy is superior to the activity index and the gastroenterologists' clinical assessment of active inflammation in IBD patients. Scintigraphy allows assessment of the existence, extent, and intensity of active inflammation in IBD patients in one examination with high accuracy.
Assuntos
Doenças Inflamatórias Intestinais/diagnóstico por imagem , Leucócitos , Compostos de Organotecnécio , Oximas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Doenças Inflamatórias Intestinais/patologia , Intestinos/diagnóstico por imagem , Intestinos/patologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Cintilografia , Estudos Retrospectivos , Sensibilidade e Especificidade , Tecnécio Tc 99m ExametazimaRESUMO
99mTc-HMPAO-leukocyte scintigrams were compared with the activity index (AI) of Van Hees in 145 inflammatory bowel disease (IBD) patients. Labelling of leukocytes with 99mTc-HMPAO was less time-consuming and less laborious than 111In-labelling of granulocytes; in addition, the radiation dose for the patient is lower and the shorter acquisition time allows multiple views. In a previous comparative study 99mTc-leukocytes proved superior to 111In-granulocytes in detecting active IBD. The present study shows that a positive AI (> 125) is associated with a positive 99mTc-leukocyte scintigram (40 pts); a negative 99mTc-leukocyte scintigram is only found in patients with a negative AI (27 pts). In 30 out of 78 patients with an AI < or = 125 and a positive scintigram these positive results were confirmed by radiological and/or endoscopic examinations, but in the remaining 48 patients verification of the scintigraphic result was prohibited due to the absence of other confirmative examinations within 1 month of scintigraphy. In our view 99mTc-leukocyte scintigraphy may well be the gold standard for functional assessment of inflammation intensity and localization in IBD patients.
