Introduction: Congenital malformations represent a fundamental pathology problem correlated to incidence, etiology, pathology and medical and social implications. Purpose: This study wants to establish the correlation between congenital malformations of the newborns and the infections pathology they developed. Material and method: Clinical examinations and laboratory data have been used for this study. Results: Of a total number 2610 hospitalized

Background: Although the pectus excavatum is the most common malformation of the anterior wall of a child's thorax, today the causes that determine the appearance of this malformation are not known. There is increasing evidence nowadays that genetics plays an important role in the appearance of chest wall malformations. Objectives: The purpose of this study was to identify the cases that have associated with the chest wall malformation a genetic

Things are moving fast for rare disease patients in Romania. A rare disease conference took place in Cluj-Napoca, the ancient centre of Romanian culture and civilisation in picturesque Transylvania, on 24 June 2007. The conference, the first of its kind to take place in Romania, was organised by the Romanian Prader-Willi Association, on the back of the 6th International (and 1st Romanian) Prader-Willi Syndrome Conference. The event gathered 340 attendees

Background. Acute lymphoblastic leukemia (ALL) refers to a group of heterogeneous diseases with different clinical expression and prognosis. Therefore, patients require precise and complete initial evaluation of risk factors including cytogenetics, immunophenotype and biomolecular assessment in order to plan an individualised, optimal treatment regimen. Objectives. We aimed at evaluating the biological profile of leukemic cells and its particularities

Introduction In the absence of a national governmental strategy for Rare Diseases (RD), an EU priority for Romania, the collaboration of local and national NGOs and medical specialists is essential. The aim of our paper is to focus on the encouragement of a collaborative effort between Higher Education Medical Universities, medical specialists, and NGOs serving beneficiaries in the RD sector through a multidisciplinary approach. Results Families

Introduction Nowadays, with the advances in molecular genetics and the study of human genome, there are great expectations for a better understanding of human diseases and further alternatives to prevent or even cure genetic disorders. Genetics is playing an important role in medical science and therfore it has reached an increasing awareness of genetics by the public. Many dentists are interested in the fundamental principles and diagnosis of common

Medical Genetics department of University of Medicine and Pharmacy "Victor Babes" Timisoara and Genetics Department of Children Hospital "Louis Turcanu" have started several years ago a project which aim was to realize a rapprochement between genetics and community. Organizing courses and case presentations, including discussion of etiology, inheritance, dysmorphology, differential diagnosis of genetic diseases investigated and followed-up in Pediatric

For a fifteen year period it has been hospitalized in Ophthalmologic Clinic from Craiova nineteen cases with retinoblastoma, seventeenth of them have been sporadic forms and two hereditary forms. It was found chromosomal changes at the two hereditary forms, consisting by a deletion of the long arm of chromosome 13.