https://www.um.edu.mt/library/oar/handle/123456789/3593 2026-04-22T12:14:08Z https://www.um.edu.mt/library/oar/handle/123456789/3855 Title: Publishing on the WWW : part 4 : pubmed central : a publishing paradigm shift Authors: Grech, Victor E. Abstract: This article discusses the environment leading to the founding of the Pubmed Central database, and its likely effects on publishing as we know it. 2001-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/3796 Title: Prenatal diagnosis of congenital anomalies Authors: Todros, Tullia; Capuzzo, E.; Gaglioti, Pietro Abstract: Up till the early 1970s, prenatal diagnosis of congenital anomalies was primarily aimed at detecting chromosomal abnormalities by amniocentesis. Over the last two decades, prenatal diagnosis has greatly benefited from advances in ultrasound technology and in our ability to detect microscopic and submicroscopic chromosome abnormalities as well as single gene disorders, leading to substantive improvements in detection of such congenital anomalies. At present, invasive prenatal diagnosis continues to be the gold standard for pregnancies at increased risk for chromosomal anomaly or other genetic disease, with chorionic villus sampling being the procedure of choice for the first trimester whereas mid-trimester amniocentesis continues to be the most common form of invasive procedure for prenatal diagnosis. Still, invasive techniques are restricted to subgroups at risk for anomalies, for whom such time-consuming procedures are believed to be cost-effective, also accounting for procedure-related abortive risks. In the low-risk population prenatal diagnosis generally consists of screening procedures by means of ultrasound and maternal serum biochemistry. 2001-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/3793 Title: Clinical manifestations of Noonan syndrome Authors: Digilio, Maria Cristina; Marino, Bonnie Abstract: Noonan syndrome is a common genetic disorder characterized by facial anomalies, congenital heart defect, short stature, webbed neck, chest deformities and undescended testes. The phenotypic expression of Noonan syndrome is extremely variable, with some affected subjects showing only minor features of the syndrome. Cardiac malformations are also heterogeneous. Pulmonary stenosis, with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy, are the “classic” cardiac defects reported in Noonan syndrome. However, atrial septal defect, atrioventricular septal defect, left-sided obstructive lesions, tetralogy of Fallot and patent ductus arteriosus have also been described. Autosomal dominant inheritance has been documented in some families, although many cases appear to be sporadic. The diagnosis of Noonan syndrome is at present purely clinical, because a “diagnostic” test is not available. Indeed, although a gene for Noonan syndrome has been recently mapped by linkage analysis to chromosome 12q, the gene or genes of the syndrome have not been yet cloned. 2001-01-01T00:00:00Z https://www.um.edu.mt/library/oar/handle/123456789/3787 Title: Paediatrics in the XX century Authors: Vassallo Agius, Paul Abstract: This is an editorial about the end of the twentieth century, with its seamless merging into the twenty first century, and a new millennium, is an excellent opportunity to reflect on the achievements in pediatrics over the last hundred years or so, and also perhaps hazard a guess at the expected developments in the twenty first century. The foundations of medical sciences were mainly laid during the preceding century or two, and after millennia of care of children by doctors who also cared for adults, the special needs of children were slowly but surely recognised, especially during the latter half of the nineteenth century. The emphasis has been on regarding the problems in the care of the child, especially the newborn baby, as needing special care and attention. 2001-01-01T00:00:00Z