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We report a case of a singleton hydrops pregnancy with placental gross and microscopic features between partial hydatidiform mole (PHM) and placental mesenchymal dysplasia (PMD) in a diploid live fetus. Pregnancy was complicated by early onset of growth restriction and pre-eclampsia. A female newborn was born at 29 weeks with no congenital malformations. Histology of the placenta revealed mixed phenotype of PMD and PHM, and genetic test results were normal.

Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.

We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.

Encephalocele is a rare congenital form of neural tube defect characterized by a protrusion of the meninges and cerebral tissue through a skull defect. These defects are classified according to their location: frontal, parietal and occipital, the last one being the most common form of presentation. The prognosis is related to the anatomical site, the volume of the neural contents and the presence of coexisting abnormalities. Most pregnancies are terminated, since the prognosis is poor. We report a case of an isolated fetal frontal encephalocele diagnosed at 21 weeks of gestation.

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.

Cardiomyopathies (CMs) are myocardial disorders that lead to compromised cardiac function of variable severity. These diseases are very rare in human fetuses. Many CMs are idiopathic and only 33%–43% have identifiable genetic, familial, infectious or metabolic causes.[1 2][1] About 76% of the

Triploidy is currently understood as a sporadic genetic disorder, with no recognisable risk of recurrence nor identifiable risk factors. In cases of triploidy, chances of thriving through the second trimester of fetal development are very slim, with most of these pregnancies ending as early miscarriage. We report a case of repeated triploid pregnancies in the same woman, from different fathers, achieving the second trimester of pregnancy; elective termination was decided in both cases, after an amniocentesis revealing a triploid karyotype. Both triploid pregnancies are described and compared; prenatal laboratorial markers, sonographic features, clinical course and pathological findings are analysed and matched with fetal autopsy and placental pathological study. Reported findings strongly point to recurrent triploidy of maternal origin, and so the possibility of a genetic predisposition should be considered. Investigation is required to assess the presence of an underlying genetic mechanism in this setting, thus enabling a better genetic/obstetric counselling.

Bardet-Biedl syndrome (BBS) is a rare ciliopathic human genetic disorder with mainly an autosomal recessive inheritance. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in the absence of family history or consanguinity. We present a prenatal case without a family history of inherited diseases or consanguinity. Mid-trimester ultrasound revealed hyperechogenic kidneys and postaxial polydactyly putting us on track of BBS. The fetopathology supported this diagnosis and the whole-exome sequencing confirmed the hypothesis. Our case illustrates how high-resolution obstetric scan, detailed observation of fetal features and application of gene sequencing technology contribute to elucidate the aetiology of rare, yet disabling and incurable disease, with the particular setting of negative family history.

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/publishedVersion

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/publishedVersion

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.

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 indicate, info:eu-repo/semantics/publishedVersion

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

We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70–90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

Eosinophilic Esophagitis has been increasingly diagnosed and results from a chronic esophagic inflammation with eosinophilic infiltrate.Evaluation of the diagnosed paediatric cases in our centre between 2004 and 2008 and revision of current literature on this subject.Four caucasian boys, aged eight to fifteen years old, were diagnosed with Eosinophilic Esophagitis. They presented with disphagia and food impaction and endoscopic findings included multiple concentric rings (pseudo-trachea pattern) and friable mucosa. All of them had mucosal eosinophil counts higher than 20 eosinophils/high-powered field and were given corticosteroids, either topic or systemic (one case) with therapeutic success.The diagnosis of Eosinophilic Esophagitis must be considered in presence of disphagia, food impaction or gastroesophageal reflux symptoms refractory to treatment. Endoscopic evaluation may be normal and the diagnosis is based on histological findings, making biopsy mandatory whenever clinically suspected. The increasing incidence of the last years associated with the high recurrence rate will lead to future prevalence increased both in child and adulthood.

The 980 exams concerning breast pathology performed in an 18-month period, including 626 fine needle aspiration biopsies, were reviewed. A diagnosis was made in 78.2% of fine needle aspiration biopsies, and in the remaining 21.8% they were considered insufficient for diagnosis. It was possible to establish a correlation with histological findings in 109 cases. There was accordance in 87.2% of the cases, a discrepancy in 6.4% of the cases neither with false positives nor false negatives, and in the remaining cases fine needle aspiration biopsy was considered insufficient for diagnosis despite the presence of a lesion in histological sections. The advantages and pitfalls of fine needle aspiration are discussed, and we consider this technique important in the initial approach to patients with breast disorders.

Fabry disease is an X-linked glycosphingolipidosis caused by deficiency of alpha-galactosidase. Progressive chronic kidney disease (CKD) is a major cause of morbidity and mortality in males. Although 40% of heterozygous females may develop renal involvement, pathologic data on Fabry nephropathy in heterozygotes are scarce. We reviewed the kidney biopsies of four affected females who had normal to slightly sub-normal renal function, two of them with overt proteinuria. Chronic non-specific degenerative lesions and glycosphingolipid accumulation per cell type were semi-quantitatively assessed by light and electron microscopy. Cellular distribution of glycosphingolipid deposits was best assessed on semithin sections. Podocyte effacement was seen only in proteinuric patients. Combined analysis of our data with those of two earlier series showed that glomerular sclerosis and tubulointerstitial fibrosis are predictors of proteinuria and CKD stage. There was no histopathological evidence supporting a major role of vascular damage in the early pathogenesis of Fabry nephropathy in females.

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.

Actinomycosis is a chronic suppurative bacterial infection characterized by multiple abscesses, fistulous pathways, and fibrosis involving the face, neck, chest, and abdomen. It is caused by an anaerobic Gram-positive saprophytic bacterium (Actinomyces). Primary actinomycosis of the lung is a rare disease that probably results from aspiration of oropharyngeal secretions. It can present as a chronic respiratory disease. The treatment of choice is antibiotic therapy with penicillin. The authors report the case of a 55-year-old female diagnosed with pulmonary actinomycosis and successfully treated with levofloxacin.

Three cases of pulmonary myxoid tumors showing a variable degree of microcystic change are described. They are presented as incidental solitary peripheral lung nodules on routine radiologic studies. The patients included 2 women, 45 and 65 years old, and 1 man, 33 years old. Clinical work-up showed no evidence of neoplasia in other sites. Following surgical resection, no evidence of disease was observed after a mean follow-up of 48 months. The tumors ranged in size from 1 to 2.3 cm (mean 1.4 cm). Microscopically, the lesions were well circumscribed with conspicuous cystic change and myxoid stroma. Innocuous, widely-spaced, spindled to stellate tumor cells showed minimal nuclear pleomorphism and absence of mitotic activity. The myxoid stroma contained acid mucopolysaccharides, sensitive to hyaluronidase digestion. No epithelial, chondroid, neural, myofibroblastic, lipomatous or vascular differentiation was evident on immunohistochemical studies. Although these cases display cytologic features, myxoid stroma and benign clinical course characteristic of pulmonary myxomas; the presence of microcystic architecture is unique to the current series, and thus a descriptive designation "microcystic fibromyxoma" is suggested.

Végran and colleagues proposed a model in which the lactate released from tumor cells through MCT4 would be taken up by endothelial cells via the MCT1 transporter and stimulate angiogenesis, using human umbilical vein endothelial cells (HUVECs) as model of tumor endothelial cells. By analyzing a total of 505 cases of human tumor samples immunostained for MCT1, we do not confirm plasma membrane expression of MCT1 in the endothelial cells of tumor-associated vessels. Cancer Res; 72(7); 1901–2. ©2012 AACR.

Objectives: This study aimed to determine the fetal philtrum length at early stages of gestation and perceive its growth through different gestational ages in case of normal and pathological fetal development.Methods: This cross-sectional observational study was conducted based on ultrasound images obtained at an institutional centre specialised in Prenatal Diagnosis. A total of 108 fetuses between 10 and 26 weeks of gestation were included, of which 90 corresponded to normal pregnancies and 18 to pregnancies diagnosed with fetal pathology. The fetal philtrum study was performed by ultrasound during a routine evaluation for each fetus. Fetal philtrum length was measured by ultrasonography, based on a mid-sagittal plane from the posterior border of the columella to the top of the upper lip. Data analysis was conducted through predictive models.Results: The best regression model for predicting the philtrum length between the 10th and 26th gestational weeks was the linear one (without constant). This model, defined by the equation S.7 = 0 294 x (R-2 = 0 970, p = 0.001), represents a 0.294 mm increase of the philtrum length per week of gestation. No statistically significant differences were found in the mean value of the philtrum length, either in the presence or absence of fetal pathology.Conclusions: This study provides additional data about the growth pattern of the philtrum in early stages of gestation and offers a simpler way to identify alterations in the philtrum length. However, more studies with larger samples are needed to understand better the relationship between philtrum anomalies and craniofacial abnormalities in order to obtain a more accurate prenatal diagnosis. (C) 2016 Sociedade Portuguesa de Estomatologia e Medicina Dentaria., info:eu-repo/semantics/publishedVersion

Chiari malformations comprises a group of brain diseases in which mainly the cerebellum is the structure affected. The prenatal diagnosis by ultrasound through identification of specific sonographic signs is already described. However, as some pediatric cases reported in literature are associated with craniofacial anomalies, the fetal face study performed on this clinical case intend to screen the same and to contribute for a more routinely application of the fetal face assessment on this type of cases to promote a more earlier prenatal diagnosis., (undefined)

Os autores descrevem o caso de um encefalocelo frontal (com 7,2 mm) diagnosticado às 10+2 semanas numa primigesta, caucasiana, de 27 anos, sem antecedentes médico-cirúrgicos relevantes. Ecograficamente não foram encontradas outras malformações associadas. Face à literatura por nós consultada, este é aparentemente o caso mais precoce de encefalocelo isolado com diagnóstico pré-natal (46, XY). No seguimento intra-uterino até às 17 semanas, a dimensão da lesão atingiu os 16 mm e acompanhou o crescimento fetal. A evolução intra-uterina e o estudo complementar com ressonância magnética fetal cerebral contribuíram para a decisão da interrupção médica de gravidez às 18 semanas. O exame necrópsico foi totalmente concordante., NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, Vol 23, No 4 (2014)