The results of medical genetics investigations in the population of the South-Western part of Romania in the last 5 years are presented. Individuals were referred to the Medical Genetics services from Timisoara by medical personnel or came without any referral. Familial pedigree analysis, clinical, paraclinical and cytogenetic investigation revealed: - A genetic cause in the majority of investigated couples with sterility and infertility. - Androgen

Objective: diagnostical framing of the echography find out disease, correlation between the imaging and clinical marks, setting of the evolutional stage and therapeutical indication. Material and Method: The study contained 34 cases of ventriculomegaly, selected by clinical and imaging criteria from the premature newborn hospitalized in the Clinic of Neonatology. Head ultrasonography was used as method of diagnosis and prognosis evaluation. Results:

Introduction: Holoprosencephaly appears between the 4-th to 8-th week of pregnancy due to the lack of cleavage of the prosencephalus in the telencephalus and diencephalus,. The attendance is 1 at 10.000 live newborn,; 60 times higher at aborted human embryos. Depending on the degree of differentiation and severity we can have 3 subtypes of holoprosencephaly: alobar. semilobar and lobar. Material and Method: The authors present a study on 3 premature

Methods of genetic risk assessment include assessment of family history of disease and genetic testing. The aim of the present study was to identify and follow-up individuals at risk for cancer, and their families. Methods: Collecting family history information, using risk factors questionnaire and diet questionnaire. Knowing that women with first- and second-degree affected relatives have a significantly higher risk of developing breast cancer,

The problematic of Rare Diseases in Romania was a true Cinderella until 2000. In the latest years due to the initiative of NGO is this pathology caught the attention of medical people by the means of the model that was offered in Europe, where the role of volunteers derived from families, universities and NGO is become essential. In the activity of NGO Save the Children, Timis branch in partnership with pediatricians and the University of Medicine

In Romania rare diseases are really orpheline. The project started by Romanian Prader Willi Association in 2007 (a project realized with the financial support of Trust for Civil Society in Central and Eastern Europe) induced multiple changes and it has a real chance that it’s main objective to be accomplished. This objective is to develop the awareness of the community regarding patients affected by rare diseases by involving the social actors

Mental retardation (MR) is a heterogeneous entity, genetic causes being involved mainly in moderate/severe forms. Subtelomeric rearrangements (SR) play an important role in idiopatic MR determinism. Recently introduced MLPA (Multiplex Ligation Probe Amplification) technique seems to provide good results in SR’s identification. We have used MLPA to identify SR in children with idiopatic MR, the protocol consisting of the following sequence: clinical

The registries for rare diseases follow to obtain epidemiological information useful to understand the dimension of the problem. Knowing the prevalence of rare diseases is an essential aspect for establishing the most adequate methods for detection, prevention and management to guide the health policy and the need for specialized personnel in different regions. In addition the registries for rare diseases represent data bases useful for research.

Introduction. FVIII inhibitors appearance in haemophiliacs is related to several factors, like substitution with native plasma products, frequent changing of FVIII concentrates, high rate of HBV and HCV infection, pseudotumours and other massive muscular haematomas, etc. Objective. Starting from particularities of haemophilia treatment in our country, we evaluated the variables impact on inhibitors development. We assessed frequency and inhibitors

Alpha-methylacyl-CoA racemase, abbreviated in data bases as AMACR or P504S, is a 382 amino acid protein that plays a critical role in peroxisomal and mitochondrial beta oxidation of branched chain fatty acid and bile acid intermediates, dihydroxycholestanoic acid and trihydroxycholestanoic acid, molecules. Specifically, it catalyses the conversion of (R) a - methyl branched chain fatty acyl CoAs to their (S) stereoisomers, because only stereoisomers