Novel and recurrent genetic variants associated with male and female infertility.

Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique.

Parents' attitudes towards children's transplantology.

Introduction: Pediatric transplantation is an extremely complex and emotionally difficult area of pediatric medicine. The process of obtaining a pediatric donor by the staff is an extremely delicate topic, and for the family of the deceased child, often an unimaginable and painful process. The aim of the study was to analyze parents' opinions on pediatric transplantology.

The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation Diseases.

Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the one-carbon cycle. This enzyme is essential for the metabolism of methionine, folate, and RNA, as well as for the production of proteins, DNA, and RNA. MTHFR catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to its active form, 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Methylenetetrahydrofolate Reductase C677T Gene Variant in Relation to Body Mass Index and Folate Concentration in a Polish Population.

Background: Methylenetetrahydrofolate reductase (MTHFR) is an enzyme responsible for producing an active form of folate. The T677T genotype may have adverse health effects associated with weight gain and a reduction in folate availability.

Aim: In this study, we examined the influence of the C677T variant on BMI and determined its role as a risk factor for obesity.