Developmental delay and intellectual disabilities (DD/ID) are significant health problems affecting 3% of the human population. Submicroscopic chromosomal rearrangements involving subtelomeric regions are often considered to be the cause of unexplained DD/ID. Screening of subtelomeric regions was performed in 80 unrelated patients with DD/ID and normal GTG-banded chromosomes using the MLPA method with two kits (SALSA P070-B1 and P036-E1).
View Article and Find Full Text PDFSpinal muscular atrophy (SMA) is caused by functional loss of the survival of motor neuron 1 (SMN1) gene. Despite genetic homogeneity, phenotypic variability indicates the involvement of disease modifiers. SMN1 is located in 5q13.
View Article and Find Full Text PDFIn this article we summarized the recent research of the food addiction, diagnosis, treatment and prevention, which is carried out in this area. The concept of food addiction is new and complex, but proven to be very important for understanding and solving the problem of obesity. First part of this paper emphasizes the neurological studies, whose results indicate the similarity of brain processes that are being activated during drug abuse and during eating certain types of food.
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