Disclosing Hypoalbuminemia: A Lupus Protein-Losing Enteropathy (Lupple) Report

A enteropatia perdedora de proteínas (EPP) caracteriza-se pela presença de edema generalizado e hipoalbuminemia grave, secundários à perda proteica através do trato gastrointestinal. Os autores reportam um caso de enteropatia perdedora de proteínas secundária a lupus eritematoso sistémico (LES), como a manifestação inicial desta doença. A doente relatava um quadro pautado por 4 meses de diarreia aquosa, não sanguinolenta, (com um máximo de 10 dejeções diárias), e perda ponderal significativa. Posteriormente desenvolveu marcado edema periférico e rash cutâneo malar e maculopapular ao nível do tórax e membros. Analiticamente apresentava anemia, hipoalbuminemia grave, hipocaliémia e hipomagnesémia. No decurso da investigação foram excluídas proteinúria e outras causas de hipoalbuminemia. Após resultados como a pesquisa de anticorpos anti-nucleares e anti-ribonucleoproteinas positiva foi assumido o diagnóstico de EPP secundária ao LES. A doente foi tratada com pulsos de Metilprednisolona 1000 mg/dia durante 3 dias, seguido de prednisolona 1 mg/kg/dia, com boa resposta clínica. Após 20 dias, foi adicionada Azatioprina e iniciado o desmame de corticoides. O presente caso clínico destaca uma EPP como forma de apresentação do LES, cujo diagnóstico pode passar despercebido, tendo em conta a sua raridade, e acarretar um aumento da morbilidade e mortalidade.info:eu-repo/semantics/publishedVersio

Overexpression of circulating MiR-30b-5p identifies advanced breast cancer

Breast cancer (BrC) remains the leading cause of cancer-related death in women, mainly due to recurrent and/or metastatic events, entailing the need for biomarkers predictive of progression to advanced disease. MicroRNAs hold promise as noninvasive cancer biomarkers due to their inherent stability and resilience in tissues and bodily fluids. There is increasing evidence that specific microRNAs play a functional role at different steps of the metastatic cascade, behaving as signaling mediators to enable the colonization of a specific organ. Herein, we aimed to evaluate the biomarker performance of microRNAs previously reported as associated with prognosis for predicting BrC progression in liquid biopsies. Background Breast cancer (BrC) remains the leading cause of cancer-related death in women, mainly due to recurrent and/or metastatic events, entailing the need for biomarkers predictive of progression to advanced disease. MicroRNAs hold promise as noninvasive cancer biomarkers due to their inherent stability and resilience in tissues and bodily fluids. There is increasing evidence that specific microRNAs play a functional role at different steps of the metastatic cascade, behaving as signaling mediators to enable the colonization of a specific organ. Herein, we aimed to evaluate the biomarker performance of microRNAs previously reported as associated with prognosis for predicting BrC progression in liquid biopsies. Methods Selected microRNAs were assessed using a quantitative reverse transcription-polymerase chain reaction in a testing cohort of formalin-fixed paraffin-embedded primary (n = 16) and metastatic BrC tissues (n = 22). Then, miR-30b-5p and miR-200b-3p were assessed in a validation cohort #1 of formalin-fixed paraffin-embedded primary (n = 82) and metastatic BrC tissues (n = 93), whereas only miR-30b-5p was validated on a validation cohort #2 of liquid biopsies from BrC patients with localized (n = 20) and advanced (n = 25) disease. ROC curve was constructed to evaluate prognostic performance. Results MiR-30b-5p was differentially expressed in primary tumors and paired metastatic lesions, with bone metastases displaying significantly higher miR-30b-5p expression levels, paralleling the corresponding primary tumors. Interestingly, patients with advanced disease disclosed increased circulating miR-30b-5p expression compared to patients with localized BrC. Conclusions MiR-30b-5p might identify BrC patients at higher risk of disease progression, thus, providing a useful clinical tool for patients’ monitoring, entailing earlier and more effective treatment. Nonetheless, validation in larger multicentric cohorts is mandatory to confirm these findings.Research Center of Portuguese Oncology Institute of Porto (PI 74-CI-IPOP-19-2016). JL and CSG are supported by a PhD fellowship from FCT - Fundação para a Ciência e Tecnologia (SFRH/ BD/132751/2017 and SFRH/BD/92786/2013, respectively). SS is supported by a PhD fellowship IPO/ESTIMA-1 NORTE-01-0145-FEDER-000027. BMC is funded by FCT-Fundação para a Ciência e a Tecnologia (IF/00601/2012