VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later a...
VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later a...
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, amnio...
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...
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 we...
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...
Congenital heart defects (CHD) is defined as a coarse structural abnormality of the heart or intrathoracic large vessels and which has functional significance. The objectives of this study were to determine the percentage of CHD in fetal autopsies and its frequency in isolated and syndromic context evaluate the most frequent types of CHD and determine the impact of histological study in the diagnosis of cardiac...
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 tw...
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. Methods: Observational, descriptive, transversal study. The study protocol followed the ethical principles outlined by the Helsinki Declaration and was approved by the Ethics ...
BACKGROUND/AIMS: The human embryo develops in a hypoxic environment. In this way, cells have to rely on the glycolytic pathway for energy supply, leading to an intracellular accumulation of monocarboxylates such as lactate and pyruvate. These acids have an important role in cell metabolism and their rapid transport across the plasma membrane is crucial for the maintenance of intracellular pH homeostasis. This t...