RESUMEN
Carcinocythemia, known as the presence of circulating tumor cells in the peripheral blood, is difficult to detect when the carcinoma cells are minimally present. We describe a case of a 56-year-old patient presenting with disseminated intravascular coagulation (DIC) and multiple organ failure. Despite initial suspicion of sepsis, a peripheral blood smear showed the presence of atypical cells, mainly located at the feathered edge, leading to a presumptive diagnosis of carcinocythemia of unknown primary origin. The presence of a high-fluorescent cell population detected by our hematology analyzer (Sysmex XN-9100) and immunohistochemical staining with pancytokeratin AE1/AE3 confirmed the carcinoma cell origin. The patient died 4 days after referral to our hospital. Postmortem examination revealed a pleomorphic lobular breast carcinoma (triple-negative, androgen receptor-negative). Given the clinical acuity of patients with carcinocythemia, early diagnosis is essential to guide management. This case underscores the importance of optimizing current workflows relying on complex flagging algorithms and enhanced digital imaging to aid in the early detection of such rare condition. When patients present with DIC of unknown origin and high fluorescent signals are detected on the hematology analyzer, carcinocythemia should actively be ruled out by extensive microscopic peripheral blood examination.
Asunto(s)
Anemia , Leucopenia , Trombocitopenia , Humanos , Recuento de Plaquetas , Crioglobulinas , Trombocitopenia/diagnóstico , Trombocitopenia/etiología , PlaquetasRESUMEN
Hepatitis E virus (HEV) causes worldwide more than 20 million new hepatitis cases yearly. These infections can take on fulminant forms or cause severe extrahepatic manifestations, and integration into hepatitis differential diagnosis is recommended. In developed countries, genotypes 3 and 4 are most common, mainly through zoonotic transmission. HEV diagnosis is usually first approached with serological methods, sometimes completed with PCR. In this study, we tested the VIDAS anti-HEV immunoglobulin M assay for its specificity on 181 serum samples from patients infected with selected pathogens possibly causing comparable symptoms or false-positive hepatitis E IgM, such as cytomegalovirus, enterovirus, or other hepatitis viruses. Additionally, serum samples were included from 29 patients who tested positive for autoantibodies in immune-mediated liver disease. We report 8 false-positives (specificity 96%), predominantly for hepatitis A, Epstein-Barr virus, and cytomegalovirus, with numbers that are generally lower than reported for comparable assays. A small sensitivity study showed that its use is limited in immunocompromised patients, for whom molecular detection is recommended as first-line test.
Asunto(s)
Anticuerpos Antihepatitis/sangre , Virus de la Hepatitis E/aislamiento & purificación , Hepatitis E/diagnóstico , Inmunoglobulina M/sangre , Juego de Reactivos para Diagnóstico , Bélgica/epidemiología , Reacciones Cruzadas , Ensayo de Inmunoadsorción Enzimática , Hepatitis E/epidemiología , Virus de la Hepatitis E/inmunología , Hepatitis Autoinmune/inmunología , Humanos , Huésped Inmunocomprometido/inmunología , Sensibilidad y EspecificidadRESUMEN
INTRODUCTION: Coagulase-negative staphylococci (CNS) are considered to have a medium or low pathogenic capacity when compared to S. aureus. Among the more harmless, CNS are those that are used in the food industry, represented by S. carnosus, whose genome has extensively been studied. Its genome was found to contain several genomic sequences that have a virulent function in the pathogenic S. aureus. Even though these genes are probably not virulent in S. carnosus, their presence might indicate a more virulent potential. We report the third clinical case associated with a surgical-site infection with S. condimenti, which belongs to these food industry related CNS. It corresponds to a blood stream infection, secondary to a surgical-site infection. RESULTS: Antibiotic susceptibility testing indicated a resistance to erythromycin and rifampicin, which was partly confirmed by the presence of a macrolide resistance gene by PCR screening for S. aureus virulence factors. Although no other putative virulence factors were detected, this organism managed to cause a severe post-operative wound infection. CONCLUSION: This case shows that CNS that are currently used in the food industry may play a role in human infection. With technologies such as MALDI-TOF, pathogens that are regarded non-pathogenic could be identified more often. Therefore, the risk of different Staphylococcus strains used in the food industry must be better assessed.
Asunto(s)
Infecciones Estafilocócicas/diagnóstico , Infección de la Herida Quirúrgica/diagnóstico , Infección de la Herida Quirúrgica/microbiología , Antibacterianos/uso terapéutico , Coagulasa , ADN Bacteriano/genética , Industria de Alimentos , Genes Bacterianos , Humanos , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Infecciones Estafilocócicas/tratamiento farmacológico , Infecciones Estafilocócicas/microbiología , Staphylococcus , Infección de la Herida Quirúrgica/tratamiento farmacológico , Resultado del Tratamiento , Factores de Virulencia/genéticaRESUMEN
INTRODUCTION: The propositus - a two-week-old boy - was transferred to our university hospital for investigation of increased head circumference and full fontanel. On ultrasound, thrombosis of the right internal cerebral vein and intraventricular haemorrhage was diagnosed, confirmed by MRI. Family history revealed a bleeding history in the mother. A haemostatic work-up in both mother and child was performed in order to rule out congenital coagulopathy. AIM: We document a clinical case of congenital dysfibrinogenemia, caused by heterozygosity for the mutation FGA p.Asp473Ter, previously reported as fibrinogen Nieuwegein in homozygosity in an asymptomatic patient. METHODS: Fibrinogen activity in plasma was determined by functional Clauss assay, and immunological fibrinogen concentration by nephelometry. In vitro fibrin clot investigations and genetic analysis of the fibrinogen gene were performed. Complete haemostatic work-up was done by conventional methods. RESULTS AND DISCUSSION: After full laboratory work-up, dysfibrinogenemia was diagnosed, based on fibrinogen activity:antigen ratio, thrombin time, and reptilase time. Molecular analysis showed a frameshift mutation in exon 5 of FGA: c.1415_1416 insC, leading to a termination codon immediately after the insertion (CCT GAT>CCC TGA) and resulting in a truncated αC-domain. This mutation has been reported earlier as fibrinogen Nieuwegein. Further in vitro investigations revealed an abnormally tight clot structure, prolonged clot lysis time and affected polymerization, suggesting a thrombotic phenotype. Cerebral imaging revealed thrombosis, most likely developed in the antenatal period, leading to extensive intraventricular haemorrhage and posthaemorrhagic ventricular dilatation. CONCLUSION: We highlight the combined thrombotic and haemorrhagic phenotype linked to heterozygous fibrinogen Nieuwegein, in contrast to the previously reported asymptomatic homozygous case.