No abstract

Craniofacial microsomia (CFM, OMIM: 164210), also known as the oculo-auriculo-vertebral spectrum, hemifacial microsomia, or Goldenhar syndrome, is typically characterized by uni-or bilateral microtia and mandibular hypoplasia in addition to ocular, vertebral, and renal abnormalities (Gorlin, Cohen, & Hennekam, 2001; Heike & Hing, 2009). CFM, like other complex diseases, usually occurs sporadically. In multiplex families, the transmission is usually autosomal dominant, often with incomplete penetrance, although autosomal recessive inheritance has also been postulated for some families (Rollnick & Kaye, 1983; Vendramini-Pittoli & Kokitsu-Nakata, 2009). It is associated with high

In Latin America and the Caribbean, hypertensive pregnancy disorders are responsible for almost 26% of all maternal deaths [1] and, in Colombia, they account for 59% of all severe maternal morbidity (SMM) cases, and 59.7% of all SMM cases in adolescents [2]. One of the most important hypertensive pregnancy disorders is preeclampsia (PE). Lives can be saved, if PE is prevented, or detected early and properly managed. Prevention and detection depend on identifying the risk factors associated with PE, and, as these have been shown vary by population, they should be determined on a population-by-population basis. The following study utilized the nested case-control model to evaluate 45 potential PE risk factors of a cohort in Bogotá, Colombia, making it perhaps the most comprehensive study of its kind in Colombia. It found PE to have a statistically significant association with 7 of the 45 factors evaluated: 1) pre-gestational BMI >30 kg/m 2 , 2) pregnancy weight gain >12 kg, 3) previous history preeclampsia/eclampsia, 4) previous history of IUGR-SGA (Intrauterine Growth Restriction-Small for Gestational Age), 5) maternal age <20 or ≥35 years (20–34 was not associated), and 6) family history of diabetes. Finally, prenatal consumption of folic acid was found to lower the risk of PE. We recommend that, in Colombia, factors 1–6 be used to identify at risk mothers during pregnancy check-ups; that mothers be encouraged to take folic acid during pregnancy; and, that Colombia's health system and public policy address the problem of pregestational obesity.

IntroductionMaroteaux–Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients.ResultsFourteen patients with clinical manifestations and biochemical diagnosis of MPS VI were studied, including two siblings. The 8 exons of the gene were directly sequenced from patients' DNA, and 14 mutations were found. 57% of these mutations had not been previously reported (p.H111P, p.C121R, p.G446S, p.*534W, p.S334I, p.H147P, c.900T > G, and c.1531_1553del) and 43% had been previously reported (p.G144R, p.W322*, p.G302R, p.C447F, p.L128del, and c.1143-1G > C). Of the previously reported mutations, 80% have been associated with severe phenotypes and 20% with intermediate-severe phenotypes. Bioinformatic predictions indicate that the new mutations reported in this paper are also highly deleterious.ConclusionsMost of the Colombian patients in this study had private mutations.

In placenta of patients with preeclampsia, we detected abnormal expression of F3 and THBD with increased protein and mRNA levels. The role of these molecules in the pathogenesis of this disease and in alterations of hemostatic and histopathological aspects of placentas need further studying.

The placenta works as a selective barrier, protecting the fetus from potential infections that may affect the maternal organism during pregnancy. In this review, we will discuss several challenging infections that are common within Latin American countries and that may affect the maternal-fetal interface and pose risks to fetal development. Specifically, we will focus on emerging infectious diseases including the arboviruses, malaria, leishmaniasis, and the bacterial foodborne disease caused by Shiga toxinproducing Escherichia coli. We will also highlight some topics of interest currently being studied by research groups that comprise an international effort aimed at filling the knowledge gaps in this field. These topics address the relationship between exposure to microorganisms and placental abnormalities, congenital anomalies, and complications of pregnancy.

No abstract

Preeclampsia (PE) is a hypertensive disorder that affects 2–8% of pregnancies and is one of the main causes of fetal, neonatal, and maternal mortality and morbidity worldwide. Although PE etiology and pathophysiology remain unknown, there is evidence that the hyperactivation of maternal immunity cells against placental cells triggers trophoblast cell apoptosis and death. It has also been reported that placenta-derived extracellular vesicles (EV) carry Fas ligand (FasL) and Tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) and trigger apoptosis in Jurkat T cells. This study aimed to quantify and compare FasL and TRAIL expression in EV derived from cultures of placenta explants from women with PE (early versus late) and women with uncomplicated pregnancies. Also, the study assessed EV capacity to induce apoptosis in Jurkat T cells. The authors isolated EV from placenta explant cultures, quantified FasL and TRAIL using ELISA, and analyzed EV apoptosis-inducing capability by flow cytometry. Results showed increased FasL and TRAIL in EV derived from placenta of women with PE, and increased EV apoptosis-inducing capability in Jurkat T cells. These results offer supporting evidence that EV FasL and TRAIL play a role in the pathophysiology of PE.