Early prenatal diagnosis of conjoined twins: a case report

Conjoined twins are a very rare complication of monochorionic monoamniotic pregnancies, associated with severe mortality and morbidity. Ultrasonography has made early diagnosis of conjoined twins possible, allowing prompt management and counselling of parents. The diagnosis should be suspected when monozygotic fetuses are shown to consistently hold the same fixed position relative to each other. The location and extent of fusion between the twins determine the potential for surgical separation and postnatal survival. The authors report a case of conjoined thoraco-omphalopagus twins, diagnosed by ultrasonography at 10 weeks of gestation. Due to high complexity of fetal fusion, termination of pregnancy was performed upon patient´s request

Partial molar pregnancy with live fetus diagnosed on second trimester: a case report

Hydatidiform mole is part of a group of diseases classified as gestational trophoblastic disease, which results from an aberrant fertilization. They are associated with an increase risk for the development of neoplasm, specifically choriocarcinoma, a malignant tumor that has a potential to locally invade the uterus and metastasize. Traditionally, moles have been categorized into complete or partial hydatidiform moles. Partial moles are most commonly triploid and are associated with the presence of a malformed fetus. Often partial moles are misdiagnosed as an incomplete or missed abortion of the first trimester. A case of a partial molar pregnancy with live fetus diagnosed on second trimester is reported. Hyperemesis gravidarum and hyperthyroidism were the clinical presentations. Human chorionic gonadotropin level was 1 891 264 mIU/mL. Fetal karyotype was 69, XXX. Surgical uterine evacuation was performed and the patient is in follow up. Partial molar pregnancy with a live fetus is a rare condition that presents a challenging diagnosis, particularly when it is detected during the second trimester of pregnancyinfo:eu-repo/semantics/publishedVersio

Intraplacental Choriocarcinoma: Rare or Underdiagnosed? Report of 2 Cases Diagnosed after an Incomplete Miscarriage and a Preterm Spontaneous Vaginal Delivery

Intraplacental choriocarcinoma is a rare malignant tumor diagnosed after an abortion, an ectopic pregnancy, or a term or preterm pregnancy or following the diagnosis of a hydatidiform mole. During pregnancy, it may be more common than reported, as most patients are asymptomatic and placental choriocarcinomas are usually inconspicuous macroscopically and are often mistaken for an infarct. Based upon a case study methodology, we describe 2 cases of intraplacental choriocarcinoma: the first case was identified in the product of a uterine curettage following an incomplete miscarriage and the second in one of the placentas of a bichorionic twin pregnancy. Maternal investigation did not reveal evidence of metastatic disease and neither did the infants' one in the second case. The two cases underwent maternal surveillance with serum hCG and remained disease-free until the present. In conclusion, intraplacental choriocarcinoma is easily underdiagnosed but with current treatment, even in the presence of metastasis, the prognosis is excellent. A routine microscopic examination of all the placentas and products of miscarriage can increase the real incidence of this entity and consequently improve its management.info:eu-repo/semantics/publishedVersio

Melanoma do intestino delgado: primário ou metastático? um caso clínico

Malignant melanoma often originated from melanocytes can occur wherever these cells are present. Most common locations are the skin, retina, anus and under the nail. Although rare, primary gastrointestinal tract melanoma has been reported, mostly from the oesophagus and anorectal region. In the small bowel represents 5% of primary neoplasms. We report a case of a 70 year old man, who presented with abdominal pain, weigh loss and anaemia. Based on the findings of CT, endoscopy and entheroscopy a preoperative diagnosis of a small bowel tumour was established. Was submitted to a multiple segmental enterectomy, the histopathological examination revealed a malignant melanoma. A thorough postoperative investigation did not reveal a primary lesion in the skin, oculus or any other location. Brain and pulmonary metastasis where diagnosed afterwards and he died three months after surgery. In a patient without any obvious primary tumour, with a gastrointestinal melanoma and without extraintestinal lesions we should rule out primary gastrointestinal melanoma. Keywords: Malignant melanoma, small bowel, gastrointestinal tract. O melanoma tem geralmente a sua origem em células da linha melanocítica, podendo ocorrer em todos os locais onde estas células estão presentes. Localiza-se mais frequentemente na pele, retina, ânus, leito ungueal e plexos coroideus. Embora muito raro, foi documentado melanoma primitivo do tracto gastrointestinal, sobretudo no esófago e região ano-rectal. No intestino delgado representa cerca de 5% das neoplasias primárias. Expõe-se o caso de um homem de 70 anos, que se apresentou com dor abdominal, emagrecimento e anemia. Com base na TAC, endoscopia e enteroscopia por cápsula estabeleceu-se o diagnóstico clínico pré-operatório de neoformação do intestino delgado. Foi submetido a enterectomia segmentar múltipla, o exame anatomo-patológico da peça excisada revelou tratar-se de melanoma. Perante este diagnóstico, o doente foi exaustivamente estudado, no sentido de excluir lesões prévias, ou não, na pele ou em outras localizações que justificassem a hipótese de metastização de melanoma no tracto gastrointestinal mas nada foi encontrado. Posteriormente foram-lhe diagnosticadas duas lesões expansivas cerebrais e múltiplas lesões pulmonares, vindo a falecer três meses após a cirurgia. Num doente sem tumor primário óbvio e com melanoma gastrointestinal, sem evidência de lesões extra-intestinais, coloca-se a hipótese diagnóstica de melanoma primário do tracto gastrointestinal. Palavras-chave: Melanoma, intestino delgado, tracto gastro-intestinal.

Increased CD3+, CD8+, or FoxP3+ T lymphocyte infiltrations are associated with the pathogenesis of colorectal cancer but not with the overall survival of patients

Tumor-infiltrating lymphocytes include heterogeneous populations of T lymphocytes that play crucial roles in the tumor immune response; importantly, their presence in the tumor tissue may predict clinical outcomes. Therefore, we herein studied the prognostic significance of the presence and location of CD3+, CD8+, and FoxP3+ T lymphocytes in colorectal cancer samples. In the intratumor analysis, our data did not reveal any association between lymphocyte infiltrations with clinical or pathological data. However, in the tumor margins, we found that the presence of high infiltrations of CD3+, CD8+, or FoxP3+ T lymphocytes were associated with TNM stages I-II (p = 0.021, p = 0.022, and p = 0.012, respectively) and absence of lymph node metastases (p = 0.010, p = 0.003, and p = 0.004, respectively). Despite these associations with good prognostic indicators, we were not able to find any statistically significant alterations in the overall survival of the patients, even though high infiltrations of FoxP3+ T lymphocytes in the tumor margins resulted in an increased overall survival of 14 months. Taken together, these data show that the presence of CD3+, CD8+, or FoxP3+T lymphocyte infiltrates in the tumor margins are associated with the pathogenesis of CRC, but only high Foxp3+ T lymphocyte infiltrations in the tumor invasive margins are inclined to indicate favorable prognosis.This work was supported by National funds through the Foundation for Science and Technology (FCT)—projects PTDC/MED-ONC/28658/2017, UIDB/50026/2020, and UIDP/50026/2020; and by the Norte Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF) projects NORTE-01-0145-FEDER-000013 and NORTE-01-0145-FEDER-000023. AMB was supported by the FCT fellowship SFRH/BD/120371/2016 and ET by the FCT investigator grant IF/01390/2014 and Estímulo Individual ao Emprego Científico CEECIND/03070/2020

Prenatal ultrasound and postmortem histologic evaluation of tooth germs: an observational, transversal study

Introduction: Hypodontia is the most frequent developmental anomaly of the orofacial complex, and its detection in prenatal ultrasound may indicate the presence of congenital malformations, genetic syndromes and chromosomal abnormalities.To date, only a few studies have evaluated the histological relationship of human tooth germs identified by two-dimensional (2D) ultrasonography. In order to analyze whether two-dimensional ultrasonography of tooth germs may be successfully used for identifying genetic syndromes, prenatal ultrasound images of fetal tooth germs obtained from a Portuguese population sample were compared with histological images obtained from fetal autopsies.Methods: Observational, descriptive, transversal study. The study protocol followed the ethical principles outlined by the Helsinki Declaration and was approved by the Ethics Committee of the School of Dental Medicine, University of Porto (FMDUP, Porto, Portugal) and of the Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/EPE, Porto, Portugal) as well as by the CGC Genetics Embryofetal Pathology Laboratory. Eighty-five fetuses examined by prenatal ultrasound screening from May 2011 to August 2012 had an indication for autopsy following spontaneous fetal death or medical termination of pregnancy. Of the 85 fetuses, 37 (43.5%) were randomly selected for tooth germ evaluation by routine histopathological analysis. Fetuses who were up to 30 weeks of gestation, and whose histological pieces were not representative of all maxillary tooth germs was excluded. Twenty four fetus between the 13th and 30th weeks of gestation fulfilled the parameters to autopsy.Results: Twenty four fetuses were submitted to histological evaluation and were determined the exact number, morphology, and mineralization of their tooth germs. All tooth germs were identifiable with ultrasonography as early as the 13th week of gestation. Of the fetuses autopsied, 41.7% had hypodontia (29.1% maxillary hypodontia and 20.9% mandibular hypodontia).Conclusions: This results indicateinfo:eu-repo/semantics/publishedVersio

Dichorionic twins discordant for body-stalk anomaly: a management challenge

Body-stalk anomaly is a sporadic and rare maldevelopment disorder characterised by large abdominal wall defect, spinal deformity and rudimentary umbilical cord. It is considered a lethal condition as there are only few reports of survival but there was at least one case of long-term survival after neonatal surgery.Differential diagnosis includes isolated omphalocele or gastroschisis, short umbilical cord, amniotic band, limb body-wall complex and other polymalformative syndromes.There are few reports about the expectant prenatal management of the body stalk anomaly as the majority of prenatal diagnosed cases undergo early elective termination. Twin pregnancies discordant for the anomaly represent a challenge to prenatal management as a healthy fetus should also be considered.We describe a case of dichorionic-diamniotic twins discordant for body stalk anomaly which underwent selective feticide of the affected fetus late in pregnancy, in accordance with parents' decision focused on the neonatal well-being of the unaffected twin.(undefined)info:eu-repo/semantics/publishedVersio

First trimester diagnosis of VACTERL association

VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimester of pregnancy. The ensuing fetal study revealed the presence of vertebral, anorectal, renal and limb anomalies and therefore was considered a case of VACTERL association. This complex association generally entails a poor prognosis. Its early detection allows discussion of management options, including medical termination of pregnancy

Pneumonia lipóide exógena â Caso clínico

Resumo: A pneumonia lipóide exógena (PLE) é uma patologia pouco frequente que resulta da aspiração ou inalação de hidrocarbonetos exógenos. A forma aguda pode observar-se em casos de aspiração acidental de material lipídico descrita tradicionalmente em cuspidores-de-fogo.Os autores apresentam o caso clínico de uma PLE aguda de um paciente de 19 anos, cuspidor de fogo, que recorreu ao Serviço de Urgência após inalação de petróleo.Tecem-se ainda breves considerações sobre os aspectos clínico-imagiológicos mais relevantes desta situação.Rev Port Pneumol 2005; XI (6): 567-572 Abstract: Exogenous lipoid pneumonia (ELP) is an infrequent pathology that results from the aspiration or inhalation of exogenous hydrocarbon. The acute form may be seen in cases of accidental aspiration of fatlike material traditionally described in fire-eaters.The authors present the case report of an acute ELP in a 19 year-old patient, fire-eater, admitted at the Emergency Room after inhalation of petroleum.By conclusion, some brief considerations on clinical-imagiological aspects of this situation are discussed.Rev Port Pneumol 2005; XI (6): 567-572 Palavras-chave: Aspiração, hidrocarbonetos, broncofibroscopia, oil-red, Key-words: Aspiration, hydrocarbon, bronchoscopy, âoil red

Carcinoma pleomórfico do pulmão em doente com síndroma de Mounier-Kuhn Pleomorphic carcinoma of the lung in a patient with Mounier-Kuhn syndrome

O carcinoma pleomórfico do pulmão (CPP) é um tumor maligno raro e de prognóstico reservado. Está inserido no grupo dos carcinomas pulmonares pouco diferenciados não pequenas células, exibe componente sarcomatoso ou sarcoma like (células fusiformes//células gigantes). Atendendo à raridade do tumor e às dificuldades no diagnóstico, é apresentado pelos autores o caso de um carcinoma pleomórfico do pulmão diagnosticado por biópsia aspirativa num paciente de 44 anos, fumador, e cuja apresentação inicial consistiu numa tumefacção dorsal. À data de diagnóstico apresentava estádio IV (TNM), não tendo sido possível efectuar tratamento dirigido ao tumor pelo mau performancestatusapresentado pelo doente, mas apenas terapêutica de suporte. A sobrevida do doente foi de 5 meses. Na sequência do estudo clínico, foi confirmada a síndroma de Mounier-Kuhn. Reportam-se os aspectos clínico-imagiológicos mais importantes, assim como os aspectos citológicos e imunocitoquímicos que caracterizam esta entidade e permitiram efectuar o diagnóstico.Pleomorphic carcinoma of the lung (PLC) is a rare malignant tumour presenting with a poor clinical outcome. It is included in the group of non-small cell lung carcinomas that contain sarcoma or sarcoma-like components (spindle cells/giant cells). Because of its rarity and diagnostic difficulties, the authors report a case of PLC in a 44 year-old patient, smoker, with the initial clinical presentation of a dorsal tumoural mass. As the time of diagnosis the tumour was in stage IV (TNM), the patient was treated only with supportive therapy and died five months later. During clinical evaluation, a Mounier-Kuhn Syndrome was confirmed. Clinical-imagiological aspects of this situation are reported as well as cytological and immunocytochemical features