COVID-19 is the clinical expression of the highly contagious severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) viral infection. Most patients have mild symptoms, but a significant proportion have severe or critical disease, which can include cardiac injury, sepsis, acute kidney failure and respiratory failure. It is also worth highlighting the increasing number of reported COVID-19 cases with dermatological disease/manifestations. The cutaneous clinical spectrum is wide and includes maculopapular, urticarial, varicelliform and petechial rashes, pseudo perniosis, livedo reticularis, and pityriasis rosea-like, violaceous and pustular lesions. Until the physiological mechanism is fully understood, it is important to describe these manifestations, which could help identify a typical pattern. This report describes a cutaneous manifestation in a COVID-19 patient.
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of diseases characterized by autosomal dominant monogenic non-ketogenic diabetes mellitus, usually with early-onset, with a prevalence of 1-5% of all diabetes cases. A 72-year-old female was admitted with intestinal occlusion, anorexia, vomiting, and weight loss for four months. Medical history of type 2 diabetes mellitus, chronic pancreatitis with abnormal pancreatic development, and acute obstructive jaundice due to a mass in the head of the pancreas with duodenum extension four months before. Assuming surgically unresectable pancreatic neoplasm, digestive bypass surgery was performed. The pathologic examination of surgical specimens was negative for neoplasm. Abdominal imaging showed the pancreatic mass, proximal bowel distension and ascites, which was negative for neoplastic cells. A percutaneous biopsy of the mass revealed adenocarcinoma. Palliative chemotherapy was started. Next-generation sequencing revealed the variant c.-8G>T in the 5’ untranslated region (UTR) region of the adenosine triphosphate (ATP) binding cassette subfamily C member 8 (ABCC8) gene in heterozygosity, associated with the MODY 12 subtype. We report a possible case of MODY 12 diabetes with a phenotype not previously described: a non-neoplastic pancreatic mass that appears in a previously abnormally developed pancreas, with evolution to neoplasm along with the late development of diabetes mellitus. Although this ABCC8 gene mutation could be incidental, there could be a relationship between this mutation, pancreatic malformation, chronic pancreatitis and pancreatic neoplasm. Investigation of new phenotypes is critical, including the potential role of the ABCC8 gene in oncogenesis.
A peritonite esclerosante encapsulante é uma doença rara e insidiosa associada a espessamento e fibrose peritoneal, afectando sobretudo doentes com historial de diálise peritoneal. Uma evolução clínica desfavorável com encarceramento de ansas intestinais culmina numa taxa de mortalidade de 25%-55%. Apresenta-se homem de 47 anos, com antecedentes de doença renal crónica previamente sob diálise peritoneal. Avaliado no serviço de urgência por febre, anorexia e ascite com 1 semana de evolução. Laboratorialmente referia-se elevação dos parâmetros inflamatórios. Radiologicamente documentou-se ascite não pura septada, com espessamento do peritoneu e compressão de ansas intestinais. A paracentese foi compatível com ascite hemática exsudativa. Após início de tamoxifeno e corticoterapia, verificou-se melhoria clínica significativa e redução da ascite e do espessamento peritoneal em tomografia computorizada abdominal. Neste trabalho descreve-se uma complicação rara e potencialmente fatal da diálise peritoneal. Visto cursar com manifestações e achados inespecíficos, exige uma avaliação clínica meticulosa em casos suspeitos.
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