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.

Expression of dNK cells and their cytokines in twin pregnancies with preeclampsia

OBJECTIVES: To assess the expression of decidual natural killer (dNK) cells and their cytokines in twin pregnancies with preeclampsia. METHODS: This was a prospective case-control study. The inclusion criteria were diamniotic (monochorionic or dichorionic) twin pregnancies in the third trimester with negative serological results for infectious diseases; absence of major fetal abnormalities or twin-twin transfusion syndrome; and no history of administration of corticosteroids in this pregnancy. The control group (CG) included uncomplicated twin pregnancies, and the preeclampsia group (PEG) included twin gestations with clinical and laboratory confirmation of the disease according to well-established criteria. Samples of the decidua were obtained and analyzed by immunohistochemistry for the expression of dNK cells and interleukins (ILs) 10, 12 and 15. In addition, maternal serum samples were collected to determine the levels of these interleukins. RESULTS: Thirty twin pregnancies were selected: 20 in the control group (CG) and 10 in the preeclampsia group (PEG). The PEG showed strong placental immunostaining for IL-15 (p=0.001) and high maternal serum levels of IL-10 (22.7 vs. 11.9 pg/mL, p=0.024) and IL-15 (15.9 vs. 7.4 pg/mL, p=0.024). CONCLUSION: A higher maternal serum concentration of both pro- and anti-inflammatory factors was observed in the twin pregnancies in the PEG. However, no difference in placental expression of IL-10 was found between the groups. These findings may suggest that maternal attempts to balance these interleukins were not sufficient to cause a placental response, and this failure may contribute to the development of preeclampsia.

Placental weight and birth weight to placental weight ratio in monochorionic and dichorionic growth-restricted and non-growth-restricted twins

OBJECTIVE: The aim of the present study was to compare the placental weight and birth weight/placental weight ratio for intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. METHODS: This was a retrospective analysis of placentas from twin pregnancies. Placental weight and the birth weight/placental weight ratio were compared in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. The association between cord insertion type and placental lesions in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins was also investigated. RESULTS: A total of 105 monochorionic (intrauterine growth restriction=40; non-intrauterine growth restriction=65) and 219 dichorionic (intrauterine growth restriction=57; non-intrauterine growth restriction=162) placentas were analyzed. A significantly lower placental weight was observed in intrauterine growth-restricted monochorionic (p=0.022) and dichorionic (p<0.001) twins compared to non-intrauterine growth-restricted twins. There was no difference in the birth weight/placental weight ratio between the intrauterine growth restriction and non-intrauterine growth restriction groups for either monochorionic (p=0.36) or dichorionic (p=0.68) twins. Placental weight and the birth weight/placental weight ratio were not associated with cord insertion type or with placental lesions. CONCLUSION: Low placental weight, and consequently reduced functional mass, appears to be involved in fetal growth restriction in monochorionic and dichorionic twins. The mechanism by which low placental weight influences the birth weight/placental weight ratio in intrauterine growth-restricted monochorionic and dichorionic twins needs to be determined in larger prospective studies.

Serum concentration of vascular endothelial growth factor and depth of trophoblastic invasion in ampullary ectopic pregnancy

OBJECTIVE: To evaluate the association between the depth of trophoblastic infiltration and serum vascular endothelial growth factorconcentration in patients with an ampullary pregnancy. METHODS: This prospective cross-sectionalstudy involved 34 patients with an ampullary ectopic pregnancy who underwent salpingectomy between 2012 and 2013. Maternal serum vascular endothelial growth factor concentrations were measured using Luminex technology. Trophoblastic invasion was classified histologically as follows: stage I, limited to the tubal mucosa; stage II, reaching the muscle layer; and stage III,involving the full thickness. The qualitative data were compared using Fisher's exact test. The nonparametric Kruskal-Wallis and Mann-Whitney tests were used to evaluate differences in serum vascular endothelial growth factor among the degrees of trophoblastic invasion. ROC curves were constructed to determine vascular endothelial growth factor cut-off values that predict the degree of tubal invasion based on the best sensitivity and specificity. RESULTS: Eight patients had stage I trophoblastic invasion, seven had stage II, and 19 had stage III. The median serum vascular endothelial growth factorconcentration was 69.88 pg/mL for stage I, 14.53 pg/mL for stage II and 9.08 pg/mL for stage III, with a significant difference between stages I and III. Based on the ROC curve, a serum vascular endothelial growth factor concentration of 25.9 pg/mL best differentiated stage I from stages II and III with asensitivity of 75.0%, specificity of 76.9%, and area under the curve of 0.798. CONCLUSIONS: The depth of trophoblastic penetration into the tubal wall isassociated with serum vascular endothelial growth factor concentration in ampullary pregnancies.

Fetal thrombotic vasculopathy: A case report and literature review / Vasculopatia trombótica fetal: relato de caso e revisão da literatura

Summary Introduction: Fetal thrombotic vasculopathy is a recently described placental alteration with varying degrees of involvement and often associated with adverse perinatal outcomes. The diagnosis is made histologically and therefore is postnatal, which makes it a challenge in clinical practice. Method: Case report and review of literature on the subject. Results: The present case refers to a pregnant woman presenting fetal growth restriction, with poor obstetrical past, and sent late to our service. Even with weekly assessments of fetal vitality (fetal biophysical profile and Doppler velocimetry) and prenatal care, the patient progressed with fetal death at 36 weeks and 1 day. There was no association with inherited and acquired thrombophilia. Pathological examination of the placenta revealed fetal thrombotic vasculopathy. Conclusion: The fetal thrombotic vasculopathy may be associated with adverse perinatal outcomes including fetal death, but much remains to be studied regarding its pathogenesis. Diagnosis during pregnancy is not possible and there is still no proven treatment for this condition. Future studies are needed so that strategies can be developed to minimize the impact of fetal thrombotic vasculopathy.

Resumo Introdução: a vasculopatia trombótica fetal é uma alteração placentária recentemente descrita, com espectro variado de acometimento e, muitas vezes, associada a resultado perinatal adverso. Trata-se de diagnóstico histopatológico e, portanto, pós-natal, o que a torna um desafio para a prática clínica. Método: apresentação de um relato de caso e revisão da literatura. Resultados: o caso apresentado é de uma gestante com restrição do crescimento fetal, encaminhada tardiamente ao serviço, com histórico obstétrico ruim. Apesar da avaliação semanal da vitalidade fetal (perfil biofísico fetal e dopplervelocimetria) e dos cuidados pré-natais, o caso evoluiu a óbito fetal com 36 semanas e 1 dia. Não houve associação com trombofilias hereditárias e adquiridas. O anatomopatológico da placenta revelou vasculopatia trombótica fetal. Conclusão: sabe-se que a vasculopatia trombótica fetal pode estar associada a resultado perinatal adverso, incluindo óbito fetal. Ainda há muito a ser estudado acerca de sua etiopatogenia. Não é possível o diagnóstico durante a gestação e não existe ainda qualquer tratamento comprovado para essa condição. Estudos futuros são necessários para que estratégias que minimizem o impacto da vasculopatia trombótica fetal sejam desenvolvidas.

Doenca de Behcet e gestacao: relato de dois casos e revisao de literatura / Behcet's disease and pregnancy: review of the literature and case report

O curso da doenca de Behcet durante a gravidez e variavel. A remissao, ativacao ou mudancas variaveis tem sido relatadas de acordo com cada paciente. Estudamos...

Tumor trofoblastico do sitio placentario diagnostico e tratamento / Placental site trophoblastic tumors diagnosis and treatment

O tumor trofoblastico do sitio placentario (TTSP) e neoplasia derivada de celulas trofoblasticas intermediarias presentes nos vilos coriais e sitios extravilosos durante a gravidez. Entre 1976 a 1980, o TTSP era conhecido como pseudotumor trofoblastico. Apos reconhecimento do seu ...

Tratamento de gestantes com sindrome antifosfolipide de risco moderado com enoxaparina e aspirina / Treatment of antiphospholipid syndrome of moderate risk during pregnancy with aspirin and enoxaparin

A sindrome antifosfolipide faz parte de um grupo de trombofilias relacionadas a complicacoes durante a gestacao como trombose e perdas fetais. A gravidade do quadro clinico e variavel e determinada por...

Malformaçöes fetais em gestaçäo múltipla / Fetal malformations and multiple pregnancy

Objetivos: demonstrar os tipos de malformaçöes em gestaçöes múltiplas assim como a influência da corionicidade nestes casos. Métodos: foram analisadas 169 gestaçöes múltiplas submetidas à avaliaçäo ultra-sonográfica no Setor de Medicina Fetal da Clínica Obstetrícia do Hospital das Clínicas da Faculdade de Medicina da Universidade de Säo Paulo no período de janeiro de 1997 a janeiro de 1999. A corionicidade foi definida por meio de ultra-sonografia no primeiro trimestre, presença de placentas separadas, sexos diferentes ou exame anatomopatológico da placenta. Resultados: do total de gestaçöes, 24 apresentavam malformaçöes fetais (14,2 por cento) sendo 22 em gestaçöes duplas e 2 em gestaçöes triplas. Das gestaçöes gemelares que apresentavam malformaçöes fetais, 13 eram monocoriônicas, 4 dicoriônicas e em 5 a corionicidade näo era conhecida. Os tipos de malformaçöes fetais foram aquelas associadas unicamente a gestaçöes múltiplas (gêmeos unidos, n=5; gêmeo acárdico, n=3) e as que também ocorrem em gestaçöes únicas. A idade gestacional do parto de fetos com anomalias foi menor em relaçäo aos sem anomalias. Conclusöes: a maioria das malformaçöes congênitas ocorreu em gestaçöes monocoriônicas. A determinaçäo precoce do tipo de placentaçäo é útil no estabelecimento do prognóstico de gestaçöes gemelares, permitindo o planejamento das condutas em gestaçöes complicadas por anomalias congênitas.

Estudo anatomopatologico de placentas de pacientes portadoras da sindrome antifosfolipide / Placental pathologic features in antiphospholipid syndrome

Objetivos: determinar as alteracoes placentarias mais frequentemente observadas em pacientes portadoras da sindrome antifosfolipide. Metodos: foram analisadas, macro e microscopicamente, as placentas de 15 pacientes portadoras da sindrome antifosfolipide, tratadas com heparina associada a aspirina. A ocorrencia de infartos vilosos, de trombose intervilosa ou subcorionica, de lesoes nos vasos de troncos vilosos, assim como as caracteristicas da arvore vilosa, foram pesquisadas. Resultados: macroscopicamente, o infarto placentario foi a lesao mais frequentemente observada (33,3 por cento). A analise microscopica, a presenca de lesoes nos vasos de troncos vilosos foi a principal alteracao constatada, sendo evidenciada hipertrofia da camada media em 93,3 por cento dos casos, edema da adventicia, em 73,3 por cento, e edema da intima, em 46,7 por cento, seguida pelo infarto placentario, observado em 46,7 por cento dos casos...

Prevalencia de anticuerpos anti-citomegalovirus en población de embarazadas / Prevalence of anti-cytomegalovirus antibodies in pregnant women

Se estudió la prevalenica de infección por citomegalovirus en una población de 174 embarazadas, atendidas en el Hospital San José, detectándose un 98,8% de seropositividad mediante ensayo de ELISA

Um caso de tumor de mediastino

Os autores apresentam o caso de um paciente do sexo masculino, evoluçäo de seis meses, com tosse e dispnéia. A radiografia simples e a tomografia computadorizada demonstraram tumor no mediastino. A autópsia evidenciou tratar-se de teratoma maligno

Liomiossarcoma da veia renal

Um caso de leiomiossarcoma retroperitoneal de origem provável na veia renal esquerda é apresentado

Incidencia de herpes genital en mujeres durante el trabajo de parto / Incidence of genital herpes in women during labor

Se estudió la incidencia de la infección herpética en 200 mujeres elegidas al azar durante el trabajo de parto, encontrándose 2% de embarazadas excretoras asintomáticas de virus herpes simplex. El estudio serológico de esta población mostró que 96% de ellas presentaba anticuerpos antiherpes, los que fueron transmitidos en niveles semejantes a sus hijos, situación comprobada al estudiar la sangre de cordón. No se detectó caso alguno de herpes neonatal en los recién nacidos de las madres excretoras virales

Reuniäo anátomo-clínica dos Departamentos de Pediatria e de Patologia da Faculdade de Medicina - USP / Anatomo-clinical meeting of the Pediatric and Pathology Departments of the Faculdade de Medicina - USP

Os autores apresentam o caso de um recém-nascido com dificuldade respiratória nas primeiras horas de vida. O diagnóstico clínico foi de hipertensäo pulmonar persistente, confirmado pelos dados de autópsia

A mortalidade materna na eclâmpsia / Maternal mortality in eclampsia

Durante um período de 10 anos (1974-1983) foram atendidos 221 casos de eclâmpsia na Clínica Obstétrica da Faculdade de Medicina da USP. Para evidenciar a sua gravidade, as pacientes foram classificadas clinicamente, por ocasiäo da admissäo hospitalar, em: näo complicadas, complicadas e descompensadas. Trinta e três casos (14,9%) evoluíram para óbito e destes, 25 (75,9%) foram submetidos a exame necroscópico. A mortalidade materna foi analisada segundo dados de identificaçäo, relaçäo da convulsäo com as fases do ciclo gestacional, condiçöes clínicas à admissäo e tipos de tratamento. Os casos de óbito foram estudados clinicamente e necroscopicamente. Tendo em vista que as principais complicaçöes que conduziram ao óbito pacientes eclâmpticas foram pulmonares e cerebrais, estas complicaçöes säo detalhadamente discutidas