RESUMO
BACKGROUND: A new autoinflammatory syndrome related to somatic mutations of UBA1 was recently described and called VEXAS syndrome ('Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome'). OBJECTIVES: To describe clinical characteristics, laboratory findings and outcomes of VEXAS syndrome. METHODS: One hundred and sixteen patients with VEXAS syndrome were referred to a French multicentre registry between November 2020 and May 2021. The frequency and median of parameters and vital status, from diagnosis to the end of the follow-up, were recorded. RESULTS: The main clinical features of VEXAS syndrome were found to be skin lesions (83%), noninfectious fever (64%), weight loss (62%), lung involvement (50%), ocular symptoms (39%), relapsing chondritis (36%), venous thrombosis (35%), lymph nodes (34%) and arthralgia (27%). Haematological disease was present in 58 cases (50%): myelodysplastic syndrome (MDS; n = 58) and monoclonal gammopathy of unknown significance (n = 12; all patients with MGUS also have a MDS). UBA1 mutations included p.M41T (45%), p.M41V (30%), p.M41L (18%) and splice mutations (7%). After a median follow-up of 3 years, 18 patients died (15·5%; nine of infection and three due to MDS progression). Unsupervised analysis identified three clusters: cluster 1 (47%; mild-to-moderate disease); cluster 2 (16%; underlying MDS and higher mortality rates); and cluster 3 (37%; constitutional manifestations, higher C-reactive protein levels and less frequent chondritis). The 5-year probability of survival was 84·2% in cluster 1, 50·5% in cluster 2 and 89·6% in cluster 3. The UBA1 p.Met41Leu mutation was associated with a better prognosis. CONCLUSIONS: VEXAS syndrome has a large spectrum of organ manifestations and shows different clinical and prognostic profiles. It also raises a potential impact of the identified UBA1 mutation.
Assuntos
Gamopatia Monoclonal de Significância Indeterminada , Síndromes Mielodisplásicas , Humanos , Inflamação/genética , Mutação/genética , Síndromes Mielodisplásicas/diagnóstico , Enzimas Ativadoras de UbiquitinaRESUMO
This manuscript describing a case of intravascular lymphoma, displays the difficulties underlying its diagnosis. We emphasize that intravascular lymphoma should be considered in patients with multisystemic manifestations without obvious etiology. Despite the heterogeneous presentation of this lymphoma, some clinical and biological investigations should prevail clinicians to do tissue biopsy which is required to make the diagnosis.
Assuntos
Linfoma Difuso de Grandes Células B/complicações , Insuficiência de Múltiplos Órgãos/etiologia , Neoplasias de Tecido Vascular/complicações , Idoso , Diagnóstico Diferencial , Evolução Fatal , Humanos , Linfoma Difuso de Grandes Células B/diagnóstico , Masculino , Insuficiência de Múltiplos Órgãos/diagnóstico , Neoplasias de Tecido Vascular/diagnósticoRESUMO
The antithyroid agents (carbimazole, methimazole, thiamazole, propylthiouracil and benzylthiouracile) are the drug class that is associated with a high risk of agranulocytosis. Acute and profound (<0.5×10(9)/L) isolated neutropenia occurring in a subject treated with antithyroid agents should be considered as a drug-induced agranulocytosis, until proven otherwise. The clinical spectrum ranges from discovery of acute severe but asymptomatic neutropenia, to isolated fever, localized infections (especially ear, nose and throat, or pulmonary) or septicemia. With an optimal management (discontinuation of antithyroid agents, antibiotics in the presence of fever or a documented infection, or use of hematopoietic growth factor) the current mortality is close to 2%.
Assuntos
Agranulocitose/induzido quimicamente , Antitireóideos/efeitos adversos , Agranulocitose/fisiopatologia , Agranulocitose/terapia , Antibacterianos/uso terapêutico , Gerenciamento Clínico , HumanosRESUMO
INTRODUCTION: This case report describes a rare situation in which a superinfected cyst of the urachus complicated initially unknown and inactive Crohn's disease. CASE: A 21-year-old man presented a chronic fever finally attributed to a superinfected urachal cyst. Six months after ablation of the cyst, progressive Crohn's disease was diagnosed. DISCUSSION: The association of Crohn's disease and a superinfected urachal cyst is extremely rare. The case reported here is original in two aspects: the slowly progressive Crohn's disease was diagnosed after its complication; the superinfection developed through local bacterial translocation (ileal loop adjacent to the urachal cyst).
Assuntos
Doença de Crohn/diagnóstico , Cisto do Úraco/complicações , Adulto , Anti-Inflamatórios/uso terapêutico , Budesonida/uso terapêutico , Doença Crônica , Doença de Crohn/diagnóstico por imagem , Doença de Crohn/tratamento farmacológico , Progressão da Doença , Febre/etiologia , Humanos , Masculino , Fatores de Tempo , Tomografia Computadorizada por Raios X , Cisto do Úraco/diagnóstico por imagem , Cisto do Úraco/cirurgiaRESUMO
Microcrystalline arthritis sometimes have atypical localizations and presentations. The crowned dens syndrome, due to hydroxyapatite or calcium pyrophosphate deposits in peri-odontoid ligaments of the atlas, can provoke acute or chronic cervicalgia or misleading presentations such as meningitidis or fever of unknown origin. We present a particularly severe new case requesting urgent surgery, and a literature review to alert clinicians and prevent misdiagnosing this syndrome. Indeed, calcifications may be very discrete or just incidental and prevent a complete diagnostic approach.
Assuntos
Articulação Atlantoaxial/patologia , Calcinose/diagnóstico , Atlas Cervical/patologia , Febre/etiologia , Imageamento por Ressonância Magnética , Cervicalgia/etiologia , Processo Odontoide/lesões , Fraturas da Coluna Vertebral/diagnóstico , Espondilite/diagnóstico , Doença Aguda , Idoso , Calcinose/complicações , Calcinose/tratamento farmacológico , Calcinose/patologia , Calcinose/cirurgia , Atlas Cervical/cirurgia , Colchicina/uso terapêutico , Diagnóstico Diferencial , Emergências , Humanos , Ligamentos Longitudinais/patologia , Ligamentos Longitudinais/cirurgia , Masculino , Meningite/diagnóstico , Síndromes de Compressão Nervosa/etiologia , Processo Odontoide/patologia , Processo Odontoide/cirurgia , Fraturas da Coluna Vertebral/complicações , Fusão Vertebral , Espondilite/complicações , Espondilite/tratamento farmacológico , Espondilite/patologia , Espondilite/cirurgiaAssuntos
Actinomycetaceae/isolamento & purificação , Infecções por Actinomycetales/microbiologia , Prostatite/microbiologia , Pielonefrite/microbiologia , Sepse/microbiologia , Actinomycetaceae/patogenicidade , Infecções por Actinomycetales/urina , Bacteriemia/microbiologia , Bacteriúria/microbiologia , Reações Falso-Negativas , Humanos , Contagem de Leucócitos , Masculino , Prostatite/urina , Pielonefrite/urina , Kit de Reagentes para Diagnóstico , Sepse/urina , Simbiose , Urina/citologiaRESUMO
OBJECTIVE: The objective of this review is to evaluate the usefulness of oral cobalamin (vitamin B12) treatment. MATERIAL AND METHOD: PubMed was systematically searched for English and French articles published from January 1990 to January 2007. RESULTS: Prospective randomized studies (n = 3), a systematic review by the Cochrane group (n = 1) and prospective studies in well-determined population (n = 5) provide evidence that oral cyanocobalamin therapy may adequately treat cobalamin deficiency in elderly patients. However, the current literature may not suggest a strategy in terms of the form (hydroxy- or cyanocobalamin), frequency and duration of the treatment. CONCLUSION: This present review confirms the previously reported efficacy of oral cyanocobalamin treatment in elderly patients.
Assuntos
Deficiência de Vitamina B 12/tratamento farmacológico , Vitamina B 12/administração & dosagem , Administração Oral , Idoso , Dieta , Suplementos Nutricionais , Humanos , Fator Intrínseco , Síndromes de Malabsorção/complicações , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Vitamina B 12/farmacocinética , Deficiência de Vitamina B 12/etiologiaRESUMO
Besides hepatocytes, representing the main replication site of hepatitis C virus, peripheral blood mononuclear cells also represent a crucial target for viral infection. Hepatitis C virus compartmentalization (i.e., non-random distribution) of viral variants between plasma and peripheral blood mononuclear cells, more frequently observed in liver transplant patients compared to non-transplanted patients, makes liver transplantation an interesting model for the analysis of hepatitis C leukotropism. This article aims to present, firstly, in clinical and biological features arguing favour of hepatitis C virus infection leukotropism and, secondly, to review current knowledge about compartmentalization between plasma and peripheral blood mononuclear cells, especially in the liver transplantation setting.
Assuntos
Hepacivirus/crescimento & desenvolvimento , Leucócitos Mononucleares/virologia , Transplante de Fígado , Células Sanguíneas/virologia , Estudos de Coortes , Crioglobulinemia/virologia , Hepacivirus/genética , Hepacivirus/isolamento & purificação , Hepacivirus/fisiologia , Hepatite C Crônica/complicações , Hepatite C Crônica/cirurgia , Hepatite C Crônica/virologia , Hepatócitos/virologia , Humanos , Fígado/virologia , Cirrose Hepática/etiologia , Cirrose Hepática/cirurgia , Cirrose Hepática/virologia , Linfoma não Hodgkin/virologia , Especificidade de Órgãos , Polimorfismo Conformacional de Fita Simples , Proteínas do Envelope Viral/genética , Replicação ViralRESUMO
With the introduction of automated assays for measuring serum cobalamin levels over the last decades, the hematological manifestations related to cobalamin deficiency have been changed from the description reported in 'old' studies or textbooks. We studied the hematological manifestations or abnormalities in 201 patients (median age: 67 +/- 6 years) with well-documented cobalamin deficiency (mean serum vitamin B12 levels 125 +/- 47 pg/ml) extracted from an observational cohort study (1995-2003). Assessment included clinical features, blood count and morphological review. Hematological abnormalities were reported in at least two-third of the patients: anemia (37%), leukopenia (13.9%), thrombopenia (9.9%), macrocytosis (54%) and hypegmented neutrophils (32%). The mean hemoglobin level was 10.3 +/- 0.4 g/dl and the mean erythrocyte cell volume 98.9 +/- 25.6 fl. Approximately 10% of the patients have life-threatening hematological manifestations with documented symptomatic pancytopenia (5%), 'pseudo' thrombotic microangiopathy (Moschkowitz; 2.5%), severe anemia (defined as Hb levels <6 g/dl; 2.5%) and hemolytic anemia (1.5%). Correction of the hematological abnormalities was achieved in at least two-thirds of the patients, equally well in patients treated with either intramuscular or oral crystalline cyanocobalamin. This study, based on real data from a single institution with a large number of consecutive patients with well-documented cobalamin deficiency, confirms several 'older' findings that were previously reported before the 1990s in several studies and in textbooks.