RESUMO
OBJECTIVE: Nucleotide-binding oligomerization domain-containing protein 2 (NOD2) gene mutations are known to be an important risk factor in the pathogenesis of Crohn's disease (CD). Specific disease phenotypes are associated with the presence of NOD2 gene mutation. One treatment option is to use an anti-tumor necrosis factor (TNF)-α agent. Therapeutic drug monitoring (TDM) is usually performed in cases of a loss of response. Our aim was to explore whether NOD2 gene mutations have an effect on the disease phenotype, vitamin D levels, and on TDM in CD patients. METHODS: This was a retrospective genotype-phenotype association study on NOD2 gene mutations in 161 patients with CD. RESULTS: Altogether 55 (34.2%) patients carried at least one mutant allele of NOD2. NOD2 gene mutations were associated with ileocecal disease, ileocecal resection, stricturing and perianal disease, and patients with NOD2 gene mutation had significantly less frequent colonic disease and received an ostomy less frequently. TDM in patients with NOD2 gene mutation showed more frequent anti-TNF trough levels in the subtherapeutic range and lower anti-TNF trough levels than in NOD2 wild-type (WT) patients. CONCLUSIONS: CD patients with NOD2 gene mutation have a specific clinical phenotype and they may require higher doses of anti-TNF agents to achieve sufficient anti-TNF trough levels. They may therefore benefit from a proactive TDM than a reactive approach. This could be another step in the direction of personalized medicine.
Assuntos
Doença de Crohn/genética , Mutação , Proteína Adaptadora de Sinalização NOD2/genética , Adalimumab/sangue , Adalimumab/uso terapêutico , Adulto , Doença de Crohn/sangue , Doença de Crohn/tratamento farmacológico , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Infliximab/sangue , Infliximab/uso terapêutico , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Retrospectivos , Índice de Gravidade de Doença , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Vitamina D/análogos & derivados , Vitamina D/sangueRESUMO
Angiosarcoma is a rare malignant neoplasm of vascular or lymphatic endothelial origin that has a poor prognosis. The insidious symptoms, aggressive nature, and rare occurrence of this neoplasm leave a paucity of optimal treatment information. We describe the atypical presentation of an 88-year-old man who was diagnosed and treated for herpes zoster (HZ) in a local emergency department; consultation and biopsy obtained through our dermatology clinic later revealed a diagnosis of cutaneous angiosarcoma (CA).
Assuntos
Face , Hemangiossarcoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso de 80 Anos ou mais , Biópsia , Diagnóstico Diferencial , Hemangiossarcoma/patologia , Herpes Zoster/diagnóstico , Humanos , Masculino , Prognóstico , Neoplasias Cutâneas/patologiaRESUMO
Malignant melanoma is a relatively rare diagnosis in the adolescent population. A case report of a 15-year-old boy with metastatic malignant melanoma is presented followed by a brief review of the literature.
