Relevance: In the past five years, we have observed a significant increase in the frequency of severe neurological disorders based on the age of the child. Available data indicate that clinical manifestations predominantly ...

Actuality: Advances in the management of rare liver disease including and liver transplantation in children have allowed them to survive into adulthood with or without a native liver. Young adults with pediatric-onset liver ...

Introduction: Rare diseases (RD) are rare, but patients with RD are numerous, and the impact on them and their families is profound and complex. In the Republic of Moldova, the National Program for Rare Diseases (NPRD) plays ...

Introduction: Molecular-genetic investigations are essential for the identification of genetic factors, but access to them is limited due to variations in public health policies. The purpose of the research is to evaluate ...

Introduction. Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration. Recent studies suggest that certain microRNAs (miRNAs) may serve as biomarkers for diagnosis and ...

Introduction. Wilson’s disease (WD) is a rare genetic disorder with autosomal recessive inheritance. International associations recommend family screening, including the examination of first-degree relatives of the proband ...

Introduction: Short tandem repeats (STR) were once considered completely harmless genomic elements. However, it was shown that some diseases including Huntington’s disease, Friedreich ataxia and fragile X syndrome are caused ...

Introduction: Mitochondrial diseases (MD) are a group of rare, genetically inherited disorders caused by defects in mitochondrial function, particularly in oxidative phosphorylation, leading to impaired cellular energy ...

Papillon-Lefèvre Syndrome (PLS), a rare autosomal recessive disorder (1/1,000,000) caused by cathepsin C gene mutation with severe periodontitis following early tooth loss. Methods involved a thorough clinical evaluation ...

Scop: Realizarea unei analize comparative a comportamentului contraceptiv și a gradului de autonomie decizionalală a femeilor din Republica Moldova în domeniul sănătății sexuale și reproductive, pe baza datelor din ...