Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Severe combined immunodeficiency (SCID) is a group of inborn errors of immunity (IEI) characterized by severe T- and/or B-lymphopenia. At birth, there are usually no clinical signs of the disease, but in the first year of life, often in the first months the disease manifests with severe infections. Timely diagnosis and treatment play a crucial role in patient survival.

AWARENESS OF FOLIC ACID USE AND ITS EFFECTS AMONG MEDICAL STUDENTS IN UKRAINE.

Objective: The aim: To evaluate the awareness of folic acid, its use and effects, general knowledge about neural tube defects among medical students in Ukraine.

Patients And Methods: Materials and methods: This cross-sectional survey was conducted by questioning 114 fourth and fifth years' students of the Faculty of Medicine. The questionnaire contained questions about folic acid, its dietary sources, effects and periconceptional uses; spina bifida and its main symptoms.

Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.

Severe combined immunodeficiency (SCID) is a group of lifethreatening diseases, for which early diagnostics, before the development of infectious complications, is extremely important. Newborn screening for SCID with T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay for the identification of T- and B-lymphopenia has been implemented in a number of highly developed countries of the world. A number of studies proved the clinical and cost-effectiveness of screening for SCID by using TREC assay.

[Fat-soluble vitamins and immunodeficiency: mechanisms of influence and opportunities for use].

The role of vitamins in the formation of the immune response, both innate and acquired immunity, is well known. At the same time, deficit of fat-soluble vitamins A, E, D leads to impaired response of the immune system to the infectious invasion and to disorders of immune system functioning. of this article is to analyze the literature data on the impact of fat-soluble vitamins on the function of the human immune system and the possibilities of their use in patients with immunodeficiency.

Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study.

Increasing physicians' awareness is one of the main ways to improve early diagnosis of rare diseases. A survey among physicians of different specialties to evaluate the knowledge about primary immunodeficiencies (PID) was conducted in 2016 and in 2019 -before and after the implementation of an educational program. We compare responses from 82 doctors who participated in the 2016 survey, and 67 doctors who have taken part in the survey in 2019: pediatricians, general practitioners / family physicians and physicians of pediatric sub specialties.