This research illustrates a complex, observational, longitudinal, comparative and noninterventional biometric study on the evaluation, in dynamics, of stature-weight development, in children with Down syndrome (DS), compared to children with varying degrees of mental retardation (MR), by repeatedly determining their height and weight, as well as by correlating these two parameters, in order to highlight the harmonious or disharmonious aspect of their stature-weight development. For this purpose, from patients’ medical files, we extracted the data regarding the periodic, annual, height and weight determinations of 50 preschoolers and schoolchildren, institutionalized in two Special Schools in Bucharest, which we compared with the standard tables used for Romanian population. The results showed that all children with DS show a disharmonious stature-weight development, with excess weight, as a consequence of both chromosomal trisomy and associated congenital malformations, especially heart malformations. In children with MR, the results showed a great phenotypic variability in terms of their stature-weight development. Thus, there were several cases in which the stature-weight development was harmonious, but, in the vast majority of cases, the results showed the presence of harmonious stature-weight development periods, which alternate with disharmonious stature-weight development periods, with weight surplus or weight deficit, alternation, which can be explained both by the involvement of genetic factors, and especially by the involvement of environmental, exogenous or endogenous factors.

Every year, an estimated 7.9 million infants (6% of worldwide births) are born with serious�birth defects [1].�Congenital cardiovascular defects make up one of the largest groups of severe congenital malformations [2].The incidence of congenital heart defects in different studies varies from about 4/1,000 to 50/1,000 live births [3].� Congenital heart disease is frequently described in patients with Down syndrome and is the main cause of death in this population during the first two years of life [4].�Trisomy 21 with cardiovascular malformations have a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population [5].�Prenatal diagnosis of�congenital�heart disease is important for proper perinatal and neonatal management, as congenital cardiac malformations occurs in approximately eight of 1000 live births [6]. We present an extremely rare case of early prenatal diagnosis and management of a fetus with trisomy 21 associated with the transposition of the great vessels, one of the most mysterious congenital cardiac malformations.

The work presented is a clinical and genetical trial of a couple with a reproductive failure and a family history of chromosomal abnormalities. The most reliable and accurate methods used for antenatal diagnosis of Down syndrome fetuses are highlighted.

It was performed a case-control study, that included totally 187 pregnant women hospitalized in Obstetrical-Gynecology Department of Prof. Dr. Panait Sarbu Hospital, Bucharest, Romania. The selection criteria for case sample were: age over 30 years, history of malformative risk, clinical exam that emphasised malformations and ultrasound examination that suspicioned embrio-fetal morphological abnormalities. We determined the serum levels of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3), by immunoenzymometry. As statistical analysis we determined the estimated median value. For each of the three parametres, the final curve was compared with the value obtained by spectrophotometry. The study revealed the predictive value of correlated use of these three parameters, together with ultrasound examination and cytogenetic investigations, in order to early prenatal diagnosis of congenital fetal anomalies.

Lichen planus is a chronic autoimmune multi-factorial inflammatory condition of the mucocutaneous skin that mainly interests the skin and oral mucosa. Oral Lichen Planus (OLP) affects 0.5 to 1% of the world's population and all human races equally. The factors that act as triggers of autoimmune processes and determine the appearance of OLP are represented by genetic predisposition, skin injuries, viral infections, contact allergies, and medications. OLP affects the oral mucosa and occurs frequently on the inside of the cheeks and less often on the edges of the tongue, gums, or lips. The condition is manifested by the appearance of painful erosions and mouth ulcers, accompanied by erythema and gingival scaling, and sometimes localized inflammation of the gums, near the amalgam fillings. There are 132 genes currently involved in the etiopathogenesis of OLP, but only a few appear to play a major role. These genes have been termed "leader genes". Thus, based on bioinformatics studies, the main genes involved in the pathogenesis of OPL are JUN, EGFR, FOS, IL2, and ITGB4.  Although genetic status, immune system background, and infectious diseases are considered to be the most important incriminating and determining factors, the etiopathogenesis of OLP remains poorly known. Further genetic research is needed in order to achieve the generalizability of the findings and to strengthen the obtaining results.