Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum.

Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.

Trisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum

ABSTRACT Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13. Autopsy microscopy studies identified leptomeningeal glioneuronal heterotopia, which was not described as belonging to Patau syndrome. Other atypical findings were diffuse hyperplasia of pancreatic islets of Langerhans and adrenals enlargement with marked adrenocortical cytomegaly, characteristically seen in the Beckwith-Wiedemann Spectrum. Molecular genetic tests were not performed for the Beckwith-Wiedemann Spectrum. Still, due to the rarity of both disorders, this report may support the evidence that trisomy 13 can affect tissue organization and lead to unusual histopathologic features resembling classic overgrowth disorders.

Ultrasound-Guided Minimally Invasive Tissue Sampling: A Minimally Invasive Autopsy Strategy During the COVID-19 Pandemic in Brazil, 2020.

BACKGROUND: Minimally invasive autopsies, also known as minimally invasive tissue sampling (MITS), have proven to be an alternative to complete diagnostic autopsies (CDAs) in places or situations where this procedure cannot be performed. During the coronavirus disease 2019 (COVID-19) pandemic, CDAs were suspended by March 2020 in Brazil to reduce biohazard. To contribute to the understanding of COVID-19 pathology, we have conducted ultrasound (US)-guided MITS as a strategy. METHODS: This case series study includes 80 autopsies performed in patients with COVID-19 confirmed by laboratorial tests. Different organs were sampled using a standardized MITS protocol. Tissues were submitted to histopathological analysis as well as immunohistochemical and molecular analysis and electron microscopy in selected cases. RESULTS: US-guided MITS proved to be a safe and highly accurate procedure; none of the personnel were infected, and accuracy ranged from 69.1% for kidney, up to 90.1% for lungs, and reaching 98.7% and 97.5% for liver and heart, respectively. US-guided MITS provided a systemic view of the disease, describing the most common pathological findings and identifying viral and other infectious agents using ancillary techniques, and also allowed COVID-19 diagnosis confirmation in 5% of the cases that were negative in premortem and postmortem nasopharyngeal/oropharyngeal swab real-time reverse-transcription polymerase chain reaction. CONCLUSIONS: Our data showed that US-guided MITS has the capacity similar to CDA not only to identify but also to characterize emergent diseases.

Histopathologic Evaluation of Acute on Chronic Liver Failure.

BACKGROUND: Currently, the diagnosis of acute on chronic liver failure (ACLF) is clinical, and its early identification and proper management are essential for a better prognosis. The aim of this study was to identify histopathologic parameters by analyzing cirrhotic liver explants that could aid in the early recognition of this entity and to determine prognostic factors that would influence ACLF management. METHOD: We performed a retrospective analysis of histopathologic material from liver explants from patients transplanted because of chronic hepatitis C virus infection from January 2007 to July 2017. Twenty-nine (n = 29) cases without hepatocellular carcinoma were selected. Histopathologic analysis included the Laennec classification, vascularization, and portal vein thrombosis. RESULTS: According to the diagnosis of ACLF, patients were divided in 2 groups: group ACLF (n = 10) and group no acute on chronic liver failure (NO-ACLF) (n = 19). Considering the whole series, mean age was 51 ± 11.48 years and prevalence of men was 58.62%. The mean Model of End-Stage Liver Disease (MELD) score at time of transplantation was significantly higher in the ACLF group than in the NO-ACLF group (35 ± 7 vs 22 ± 6, respectively, P < .05) as was the mean total bilirubin (14.38 ± 13.31 vs 8.84 ± 10.46 mg/dl, respectively, P < .05). Histopathologic analysis of explanted livers according to Laennec staging system of cirrhosis was as follows: 1. Group NO-ACLF: 1 case (5.25%) grade 3, 6 cases (31.58%) grade 4B, and 12 cases (63.16%) grade 4C; and 2. Group ACLF: 4 cases (40%) grade 4B and 6 cases (60%) grade 4C. Cholestasis was found in 1 patient in the NO-ACLF group (5%) and in 4 patients in the ACLF group (40%) (P = .03). We studied 30-day and 10-year survival respectively, which were 80% and 60% in the ACLF group and 83% and 70% in the NO-ACLF group (P = .794 and P = .657). CONCLUSION: In this preliminary approach, clinical and histologic findings contributed to the differential diagnosis of ACLF. The mean MELD score at time of liver transplantations, total bilirubin levels, and histologically evident cholestasis were significantly higher in patients with ACLF than in those without ACLF.

Incidentes relacionados a medicamentos em uma instituição hospitalar: subsídios para a melhoria da gestão / Drug-related incidents in a hospital: input to improving management / Incidentes relacionados a medicamentos en una institución hospitalaria: subsidios para la mejoría de la gestión

Estudo descritivo, retrospectivo e quantitativo, cujo objetivo é identificar os incidentes relacionados a medicamentos e seus fatores determinantes descritos em notificações espontâneas, em um hospital público do Estado de São Paulo. Os incidentes foram identificados a partir de 189 notificações espontâneas enviadas ao Núcleo de Segurança do Paciente, no período de junho de 2011 a junho de 2012. A taxa média de notificações por 1000 pacientes-dia ao mês foi de 1,94. Os erros de medicação foram os incidentes mais notificados. A categoria de erro, classe medicamentosa, principais falhas e causas prováveis foram apresentadas. Do total dos incidentes, 19,8% não causaram danos aos pacientes, 8,6% causaram danos (eventos adversos) e 60,4% deles foram interceptados pela enfermagem antes de atingir os pacientes (potencial evento adverso). Os resultados deste estudo fornecem subsídios aos profissionais envolvidos no sistema de medicamentos para a implantação de estratégias para a prevenção de incidentes.

This retrospective, quantitative, descriptive study to identify drug-related incidents and their determinants described in spontaneous reports at a hospital in São Paulo State. The incidents were identified from 189 spontaneous reports filed with the Patient Safety Center from June 2011 to June 2012. The average rate of notifications per 1000 patient-days per month was 1.94. Medication errors were the incidents most reported. Error category, medication type, main failures and likely causes were recorded. Of total incidents, 19.8% caused no harm to patients, 8.6% caused harm (adverse events), and 60.4% were intercepted by nurses before affecting patients (potential adverse event). The results of this study provide input for professionals involved in the medication system to implement incident prevention strategies.

Estudio descriptivo, retrospectivo y cuantitativo cuyo objetivo es identificar los incidentes relacionados a medicamentos y sus factores determinantes descritos en informes espontáneos en un hospital del Estado de São Paulo. Los incidentes fueron identificados sobre 189 notificaciones espontáneas enviadas al Centro para Seguridad del Paciente, entre junio de 2011 y junio de 2012. La tasa media de notificaciones por 1000 pacientes-día al mes fue de 1,94. Los errores de medicación fueron los incidentes más reportados. Se presentaron la categoría de error, la clase medicamentosa, las principales fallas y las causas probables. Del total de incidentes, el 19,8% no causó daño a los pacientes, un 8,6% causó daños (efectos adversos) y el 60,4% de errores fue interceptado por el personal de enfermería antes de afectar a los pacientes (potencial efecto adverso). Los resultados de este estudio proporcionan subsidios a los profesionales involucrados en el sistema de medicamentos para la puesta en marcha de estrategias para la prevención de incidentes.

Carcinoma espinocelular em leucoplasia verrucosa proliferativa: relato de caso e revisão da literatura / Squamous cell carcinoma in proliferative verrucous leukoplakia: report of a case and review of the literature

A Leucoplasia Verrucosa Proliferativa (LVP) é uma lesão cancerizável caracterizada por comportamento biológico mais agressivo e maior risco de malignização que as leucoplasias bucais. O diagnóstico da LVP deve ser feito pela combinação de achados clínicos e microscópicos e o acompanhamento dos pacientes deve ser rigoroso envolvendo a remoção de fatores de risco como o tabaco e o álcool e biópsias de controle, que podem ser realizadas quando ocorrerem mudanças nos sinais e sintomas. Este trabalho revisa a literatura sobre LVP e relata um caso de carcinoma espinocelular originado de leucoplasia verrucosa proliferativa, enfatizando os aspectos clínicos e histopatológico bem como a importância do acompanhamento rigoroso do paciente e de exames complementares como o azul de toluidina.

Câncer de boca: Papel dos genes reguladores da apoptose / Oral cancer: Role of apoptose regulating genes

A alta prevalência e expressiva mortalidade do câncer de boca justificam o estudo dos fatores que contribuem para o entendimento da carcinogênese. Sabe-se que o comportamento biológico das células neoplásicas é influenciado por alterações nos genes que regulam os processos da divisäo celular. Uma família de genes reguladores da morte celular programada ou opoptose já foi identificada. A partir da descoberta do oncogene bcl-2, foram identificados outros genes homólogos da mesma família que atuam inibindo ou induzindo a apoptose, tais como o bak, bcl-x e bax. A expresäo desses genes têm sido associada aos fenômenos de iniciaçäo e progressäo tumoral, na medida em que eles poderiam, isoladamente ou em associaçäo com mutaçöes na proteína p53, proteger células geneticamente danificadas da apoptose, favorecendo assim a aquisiçäo de mutaçöes adicionais. O presente trabalho objetiva revisar a literatura caracterizando os principais oncogenes responsáveis pela morte celular programada e discutir a sua expressäo imuno-histoquímica em carcinomas espinocelulares de boca