Gastric mixed neuroendocrine/non neuroendocrine neoplasia: a rare entity.

Gastric neoplasms have different histological subtypes. Mixed neuroendocrine/non neuroendocrine neoplasms (MiNEN), as defined by the World Health Organization (WHO) 2019 Classification of Tumours of the Digestive System, are rare composite tumours bearing morphological characteristics of more than one histological type. Historically, the diagnosis requires that each component accounts for at least 30% of the total tumour burden. We present the case of a 70-year-old male, who was referred to our endoscopy unit for resection of a depressed lesion (Paris classification type 0 IIc) of 40mm in largest diameter, located on the lesser curvature of the gastric body. The lesion was submitted to en bloc resection by endoscopic submucosal dissection. Histological examination revealed a poorly differentiated intramucosal adenocarcinoma and a grade G3 well differentiated neuroendocrine tumour (NET), on a background of chronic atrophic gastritis. Unfortunately, examination of the NET component revealed intercepted margins. The patient is currently undergoing tumour staging and will be discussed by a multidisciplinary team to determine subsequent management.

IgG4-Related Esophageal Disease Presenting as Esophagitis with Chronic Strictures.

IgG4-related disease is a recently recognized autoimmune systemic disorder that has been described in various organs. The disease is characterized histologically by a dense lymphoplasmacytic infiltrate with IgG4-positive cells, storiform fibrosis, obliterative phlebitis, and can be associated with space-occupying lesions. IgG4-related disease involving the upper gastrointestinal tract is rare. We report the case of a 30-year-old female patient with a long-standing history of severe dysphagia and odynophagia. Symptoms persisted despite anti-acid therapy, and control esophagogastroduodenoscopy revealed endoscopic images consistent with a nontransposable stenosis in the proximal esophagus. An underlying autoimmune process was suspected, and topical immunosuppressants were tried to control her disease. The patient maintained disabling dysphagia secondary to chronic esophageal strictures. A diagnosis of probable IgG4-related disease was made after esophageal biopsies. Treatment attempts with topical corticosteroids was not associated with a significant improvement of the symptoms of dysphagia and odynophagia, possibly because of the chronic nature of the disease associated with a high fibrotic component. This report describes a case of IgG4-related esophageal disease presenting as chronic esophagitis with strictures. We also briefly review the main histopathological features and treatment options in IgG4-related disease.

A doença relacionada com IgG4 é uma doença sistémica, autoimune, que pode acometer vários órgãos. Caracteriza-se histologicamente por um denso infiltrado linfoplasmocítico com células IgG4-positivas, fibrose e flebite obliterante, podendo estar associada a lesões ocupantes de espaço. A doença relacionada com IgG4 envolvendo o trato gastrointestinal superior é rara. Relatamos o caso de uma paciente de 30 anos com história de disfagia e odinofagia com vários anos de evolução, em que apesar da instituição de terapêutica antiácida, os sintomas persistiram. A endoscopia digestiva alta revelou imagens endoscópicas consistentes com uma estenose não transponível no esófago proximal. Suspeitou-se de um processo autoimune subjacente sendo tentada terapêutica imunossupressora tópica para controlo da doença. A paciente manteve disfagia incapacitante secundária a estenose esofágica crónica. O diagnóstico de provável doença relacionada com IgG4 foi feito após biópsias esofágicas. As tentativas de tratamento com corticosteroides tópicos não foram associadas a uma melhora significativa dos sintomas de disfagia e odinofagia, possivelmente devido à natureza crónica da doença associada a um elevado componente fibrótico. Este caso pretende ilustrar uma situação de doença esofágica relacionada com IgG4 apresentando-se como esofagite crónica estenosante. Apresentamos ainda, uma breve revisão das principais características histopatológicas e opções de tratamento em doenças relacionadas com IgG4.

Depression preceding the diagnosis of pancreatic cancer.

Pancreatic cancer is the tumour related to higher rates of depression. Several papers have validated the association between pancreatic cancer and depression. It was noticed that in some cases the psychiatric symptoms precede the somatic ones. We present a case of a progressive and incapacitating diffuse abdominal pain, initially attributed to psychosomatic disorder. This hindered a timely correct diagnosis leading to a poor outcome. A pancreatic adenocarcinoma in an unresectable stage was confirmed by histopathology. The patient underwent chemotherapy.

Whipple's Disease: A Rare Cause of Malabsorption Syndrome.

INTRODUCTION: Whipple's disease is a rare, chronic, systemic disease caused by the actinomycete Tropheryma whipplei. Clinical manifestations vary widely depending on the affected system, the most common being the digestive tract. CASE PRESENTATION: The authors report the case of a 52-year-old man with malabsorption syndrome, diarrhea, marked weight loss, melanoderma, and visual and proprioception disorders. Periodic acid-Schiff staining of a proximal small bowel biopsy and peripheral-blood PCR identification of T. whipplei confirmed the disease. The patient was initially treated with intravenous ceftriaxone, followed by oral trimethoprim/sulfamethoxazole with significant clinical improvement. CONCLUSIONS: This case is reported due to its rarity and the diagnostic challenge it presents. Although uncommon, Whipple's disease should be considered as a differential diagnosis of malabsorption syndrome due to its systemic impact and possible treatment with targeted antibiotic therapy.

INTRODUÇÃO: A doença de Whipple é uma doença rara, crónica, sistémica, causada pelo actinomicete Tropheryma whipplei. As manifestações clínicas variam de acordo com o órgão envolvido, sendo a sua apresentação típica predominantemente associada ao sistema digestivo. CASO CLÍNICO: Os autores descrevem um caso de um homem de 52 anos com síndrome de má absorção, diarreia, perda de peso marcada, melanodermia, bem como alterações visuais e a nível da propriocepção. A coloração com PAS na biopsia de intestino delgado proximal e a identificação por PCR no sangue periférico confirmou a doença. Iniciou antibioterapia com ceftriaxone EV, seguida de trimetropim/sulfametoxazol oral com recuperação clínica significativa. CONCLUSÃO: Este caso é descrito pela sua raridade e pelo desafio diagnóstico. Apesar de incomum deve ser considerada como diagnóstico diferencial do síndrome de má absorção atendendo ao seu impacto sistémico e ao possível tratamento com antibioterapia dirigida.

A Case of Severe Cholestasis due to Hepatic AL Amyloidosis.

INTRODUCTION: Immunoglobulin light chain-associated amyloidosis results from extracellular tissue deposition of fibril-forming monoclonal immunoglobulin light chains, secreted by a clone of plasma cells. Although the liver is often involved histologically, most cases are clinically asymptomatic, and severe intrahepatic cholestasis as the primary manifestation of the disease is rare. CLINICAL CASE: We report an unusual case of primary amyloidosis in a 71-year-old man, presenting with rapidly progressive cholestasis, associated with hepatomegaly. There are a few reported cases in the literature of cholestasis and acute liver failure as the first manifestations of AL amyloidosis. CONCLUSION: Infiltrative diseases, such as amyloidosis, must be considered when a patient presents with cholestatic hepatitis. A liver biopsy is essential for the diagnosis of amyloidosis when liver test abnormalities dominate the initial clinical presentation. Liver involvement in patients with amyloidosis is often an indicator of poor prognosis.

Pancreatic adenosquamous carcinoma, a rare entity: report of four cases / Carcinoma adenoescamoso do pâncreas, uma entidade rara: relato de quatro casos

ABSTRACT Adenosquamous carcinoma of the pancreas (ASCP) is a rare variant of the pancreatic ductal adenocarcinoma (PDAC). Between 2004 and 2016, four cases of ASCP were resected at our institution; clinicopathological data were collected. All of our patients were males, aged 55-80 years. Three cases were cephalic tumors; and one, pancreatic tail tumor, measuring between 2.3 and 5.5 cm. All had neurovascular invasion and lymphatic metastasis. Two had retroperitoneal positive margins. The overall survival (OS) after surgery was three weeks-42 months. Prognosis of ASCP is dark and OS appears to be more closely related to surgical margins status than to other clinicopathological factors.

RESUMO O carcinoma adenoescamoso pancreático (ASCP) é uma variante rara do adenocarcinoma ductal (PDAC). Entre 2004 e 2016, foram ressecados quatro casos de ASCP em nossa instituição, com registro dos dados clínicos e patológicos. Os pacientes eram homens entre 55 e 80 anos. Três tumores eram cefálicos; e um, caudal, com dimensões variáveis entre 2,3 e 5,5 cm. Todos tinham invasão neurovascular e metástases linfáticas; dois, margens cirúrgicas retroperitoneais positivas. A sobrevida global (SG) pós-cirurgia foi de três semanas a 42 meses. O prognóstico do ASCP é sombrio, com SG aparentemente mais relacionada com o status das margens cirúrgicas do que com outro fator clinicopatológico.

Neurotransmitter vesicle movement dynamics in living neurons.

The communication between two neurons is established by endogenous chemical particles aggregated in vesicles that move along the axons. It is known that an abnormal transport of these vesicles is correlated with neurodegenerative diseases. The quantification of the dynamics of vesicles movement can therefore be a window to study early detection of such diseases. Nevertheless, most of the studies in the literature rely on manual tracking techniques. In this paper we present a novel methodology for quantifying neurotransmitter vesicle dynamics by using a combination of image tracking and classification algorithms. We use confocal microscopy videos of living neurons to detect and classify vesicles using support vector machine (SVM), while motion is extracted via global nearest neighbor (GNN) tracking approach. Results of the classification algorithm are presented and compared to a ground truth dataset defined by experts. Sensitivity of 90% and specificity of 97% were obtained at a much lower computational cost than an established method from the literature (0.24s/frame vs. 125s/frame). These preliminary results suggest the great potential of the method and tool we have been developing for single particle movement dynamics measure in living cells.