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1.
Medicine (Baltimore) ; 99(27): e20726, 2020 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-32629647

RESUMO

INTRODUCTION: Scleromyxedema (rare cutaneous mucinosis), is characterized by the formation of lichenoid papules and presence of Serum monoclonal IgG in most cases, or all; after repeated testing. PATIENT CONCERNS: The patient is a 51-year-old male presented with thick, disfiguring elephant-like erythematous skin folds over the forehead, papular shiny eruptions over ears and trunk and waxy erythematous papules over arms and hands without dysphagia or respiratory or neurologic symptoms DIAGNOSIS: : Skin biopsy from right arm was consistent with scleromyxedema. Serum cryoglobulin was reported negative. Complete blood count and routine blood biochemistry were normal. Thyroid function tests were normal. Serum protein electrophoresis and immunofixation showed monoclonal band of 14.5 g/L typed as IgG lambda. INTERVENTIONS: Our patient was refractory to lenalidomide however improved clinically on immunoglobulins infusions on monthly basis without change in the MGUS level. OUTCOMES: NGF analysis revealed approximately 0.25% Lambda monotypic plasma cells in the bone marrow expressing CD38, CD138, and CD27 with aberrant expression of CD56 and were negative for CD45, CD19, CD117, and CD81. We also detected 0.002% circulating plasma cells (PCs) in peripheral blood. CONCLUSION: The immunophenotype of circulating tumor cells (CTCs) remain close to the malignant PCs phenotype in the BM. Hence, we report NGF approach as a novel diagnostic tool for highly sensitive MRD detection in plasma cell dyscrasias including scleromyxedema.


Assuntos
Citometria de Fluxo/métodos , Células Neoplásicas Circulantes/patologia , Escleromixedema/patologia , Orelha Externa/patologia , Testa/patologia , Humanos , Imunoglobulina G/sangue , Imunoglobulinas Intravenosas/administração & dosagem , Imunoglobulinas Intravenosas/uso terapêutico , Masculino , Pessoa de Meia-Idade , Paraproteinemias/imunologia , Paraproteinemias/patologia , Escleromixedema/terapia , Pele/patologia
2.
Ann Gastroenterol ; 28(2): 265-270, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25830472

RESUMO

BACKGROUND: The aim of this study was to compare noninvasive biomarkers, FibroTest and ActiTest in predicting fibrosis stage and inflammation grade in chronic hepatitis C (CHC) patients with liver biopsy (LB). METHODS: In 107 patients with CHC, levels of six serum biomarkers (alanine aminotransferase, γ-glutamyl transpeptidase, total bilirubin, haptoglobin, apolipoprotein, α-2 macroglobulin) were determined at the time of LB. LB was evaluated by Metavir score for fibrosis and inflammation. Voluntary blood donors (n=106) were taken as controls for the study. RESULTS: Fibrosis estimated by Fibrotest was significantly higher in patients compared to control group. The observed area under the receiver operating characteristic curve (AUROC) for advanced fibrosis (F3, F4) adjusted according to the observed difference between advanced and non-advanced fibrosis prevalence (DANA) was 0.80 (0.69-0.88) and the AUROC for cirrhosis (F4) was 0.94 (0.86-0.98). ActiTest AUROC for moderate to severe activity (A2A3) was 0.72 (0.61-0.81), and for severe activity (A3) was 0.88 (0.78-0.93). The diagnostic values in the group of good quality biopsy (n=41) showed Fibrotest AUROC (DANA-adjusted): for advanced fibrosis 0.90 (0.72-0.99); for cirrhosis 0.93 (0.76-0.98); and ctiTest AUROC: for moderate/severe activity 0.86 (0.67-0.94); and for severe activity 0.90 (0.76-0.93). There was good concordance between FibroTest and LB (with discordance for two or more stages in <20% for advanced fibrosis and <10% for cirrhosis) and between ActiTest and LB. Specificity for FibroTest and ActiTest in the control population were 95% and 100% respectively. CONCLUSIONS: Fibrotest and ActiTest had high observed and standardized diagnostic values for predicting fibrosis and activity respectively.

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