Introduction: Neurodegenerative diseases with pediatric onset are rare conditions characterized by progressive impairment of the central nervous system, significantly impacting patients’ quality of life. Their diagnosis ...

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 ...

Background: Juvenile Idiopathic Arthritis (JIA) is the most common chronic rheumatic disease in children, with significant impacts on physical, cognitive, and emotional development, particularly in children under 5 years ...

Introduction: Genetic diseases pose a significant challenge, particularly in cases such as channelopathies and hyperekplexia. These disorders are associated with mutations in genes and specific genomic regions, leading to ...

Introduction. Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disorder caused by motor neuron degeneration. As a rare disease, SMA requires specialized diagnostic approaches that combine molecular genetic techniques ...

Introduction. Extrinsic neuronal lesions in congenital malformations in children lead to the development of Neurogenic Colonic Dysfunction (NCD). It is well known that anorectal malformations (ARMs), with a frequency of ...

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 ...

Cystic fibrosis (CF) is the most common monogenic disease in the European population, with a prevalence that varies by region: 1:1000-1800 in Europe, 1:2000-2500 in Romania and Moldova, 1:10000 in Russia, and 1:90000 ...

Introduction. Pulmonary hypertension (PH) is a severe condition characterized by increased pressure in the pulmonary arteries, leading to right ventricular overload and heart failure. Early diagnosis is crucial for ...

Material and methods. We present the case of a nweborn, born at 33 weeks of gestation. The purpoze of the study. Familiarization with a rare pathology – multichistic kydney on the left against the background of purulent ...