http://localhost:8080/handle/lib/656 Sat, 10 Oct 2026 07:36:14 GMT 2026-10-10T07:36:14Z http://localhost:8080/handle/lib/5004 Title: A case of epilepsy in a patient with homoplasmy m.4640C>A in the MTND2 gene Authors: Самоненко, Н.; Грегуль, І.; Мицик, Н.; Шклярська, Т.; Кормоз, С.; Ольхович, Н.; Охотникова, О.; Горовенко, Н. Abstract: A case of epilepsy in a patient with homoplasmy m.4640C>A in the MTND2 gene Description: A case of epilepsy in a patient with homoplasmy m.4640C>A in the MTND2 gene Mon, 01 Jan 2024 00:00:00 GMT http://localhost:8080/handle/lib/5004 2024-01-01T00:00:00Z http://localhost:8080/handle/lib/5003 Title: The 11 months experience in neonatal screening of SMA in Ukraine Authors: Ольхович, Н.; Макух, Г.; Гречаніна, О.; Веропотвелян, М.; Самоненко, н,; Мицик, Н.; Барвінська, О.; Кормоз, С.; Шклярська, Н.; Горовенко, Н. Mon, 01 Jan 2024 00:00:00 GMT http://localhost:8080/handle/lib/5003 2024-01-01T00:00:00Z http://localhost:8080/handle/lib/5002 Title: Genotype-phenotype correlation in patients with SMA in Ukraine Authors: Самоненко, Н.; Ольхович, Н.; Мицик, Н.; Кормоз, с.; Шклярська, Т.; Горовенко, Н. Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive disease, the main cause is a deletion in the SMN1 gene. The SMN2 is a highly homologous copy of the SMN1 gene and produces a small amount of functional SMN protein. An increase in the number of copies of the SMN2 modi fi es the disease phenotype. Description: Aim: The genotype-phenotype correlation in patients with SMA in Ukraine. Methods: The 7 and 8 exons copy number of SMN1, SMN2 was detected by the MLPA method (MRC Holland) in 31 patients with SMA from Ukraine. Results: The 31 patients aged from 10 days to 31 years with SMA were examined. The complete deletions of alleles in the SMN1 were detected in 9 patients, the deletion of the region of 7-8 exons in 5 patients, and the deletion of only exon 7 - in 4 patients. The largest group of patients (21 patients, 68%) had 3 copies of 7-8 exons of the SMN2 with a very wide range of clinicalmanifestations – from 4 months to 24 months. Whereas 8 patients with the 2 copies had an early onset of the disease (2 to 9 months). In one proband, only 1 copy of the SMN2 gene was identi fi ed, which led to an early start and severe clinic with death at the age of 3 months. Conclusions: The very wide range in the age of disease manifestation in patients with three copies SMN2 is most likely the result of modifying factors both genetic and environmental. Mon, 01 Jan 2024 00:00:00 GMT http://localhost:8080/handle/lib/5002 2024-01-01T00:00:00Z http://localhost:8080/handle/lib/5001 Title: Expanded newborn screening in Ukraine: fourmonth experience Authors: Ольхович, Н.; Самоненко, Н.; Барвінська, О.; Мицик, Н.; Живиця, Ю.; Тимрук, Ю.; Куцик, О.; Нагнібеда, І.; Фрунцевич, Н.; Пацьора, М.; Шлклярська, Т.; Хайдей, М.; Горовенко, Н. Abstract: Newborn screening for selected endocrine, meta- bolic, and genetic disorders has been part of public health systems for more than 50 years with all developed countries worldwide. In October 2022, expanded newborn screening for 21 diseases, including metabolic disorders, SMA, and SCID, began in Ukraine. Description: Aim: Despite the martial law and the occupation of part of Ukraine, we were laying the groundwork for the rapid introduction of expanded neonatal screening in Ukraine. Methods: The service is free for all babies born in Ukraine. The entire process of neonatal screening is monitored and recorded in the electronic health care system: from the registration of the newborn and the taking of blood samples by the doctor to the processing of the referral by the laboratory technician and the recording of the diagnostic report. Results: The pilot launch started in 12 regions of Ukraine – northern and western parts of the country. Laboratory tests according to the neonatal screening program are carried out by two regional centers of neonatal screening in Kyiv and Lviv. Pre- war population 130 000 newborns per year. During four months of work, approximately 32,000 newborns were screened, as a result 20 patients were identi fi ed. Transitory metabolic disturbances were found in 10 patients. Conclusions: Expansion of the neonatal screening program and digitalization of processes will make it possible to timely identify the risks and timely treatment of orphan diseases in infants and prevent their clinical manifestations as soon as pos Mon, 01 Jan 2024 00:00:00 GMT http://localhost:8080/handle/lib/5001 2024-01-01T00:00:00Z