DSpace Community:http://localhost:8080/handle/lib/6522026-10-10T04:51:16Z2026-10-10T04:51:16ZA case of epilepsy in a patient with homoplasmy m.4640C>A in the MTND2 geneСамоненко, Н.Грегуль, І.Мицик, Н.Шклярська, Т.Кормоз, С.Ольхович, Н.Охотникова, О.Горовенко, Н.http://localhost:8080/handle/lib/50042024-11-14T10:43:52Z2024-01-01T00:00:00ZTitle: 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 gene2024-01-01T00:00:00ZThe 11 months experience in neonatal screening of SMA in UkraineОльхович, Н.Макух, Г.Гречаніна, О.Веропотвелян, М.Самоненко, н,Мицик, Н.Барвінська, О.Кормоз, С.Шклярська, Н.Горовенко, Н.http://localhost:8080/handle/lib/50032024-11-14T10:34:03Z2024-01-01T00:00:00ZTitle: 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.2024-01-01T00:00:00ZGenotype-phenotype correlation in patients with SMA in UkraineСамоненко, Н.Ольхович, Н.Мицик, Н.Кормоз, с.Шклярська, Т.Горовенко, Н.http://localhost:8080/handle/lib/50022024-11-13T13:16:35Z2024-01-01T00:00:00ZTitle: 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.2024-01-01T00:00:00ZExpanded newborn screening in Ukraine: fourmonth experienceОльхович, 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.http://localhost:8080/handle/lib/50012024-11-13T13:14:02Z2024-01-01T00:00:00ZTitle: 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 pos2024-01-01T00:00:00Z