Publications by authors named "N Yarema"
Article Synopsis
- Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder primarily affecting Slavic populations, particularly in Ukraine, and is marked by symptoms such as microcephaly, immunodeficiency, and impaired DNA repair.
- A study of 84 NBS patients from Ukraine revealed that about 65.5% were alive, with a median age of 11 years; the prevalence of NBS diagnoses has shown a recent increase, especially from central and southeastern regions of the country.
- Clinical findings indicated that most patients experienced delayed physical development and infections, with malignancies (especially lymphomas) being a significant cause of death; immunological analysis showed reduced CD4+, CD19+, and immunoglobulin levels in the
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.
View Article and Find Full Text PDFThe aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish their informative value for early diagnosis of this pathology. TRECs and KREC assay was performed using real-time polymerase chain reaction on the DNA of 25 patients diagnosed with AT aged 3 to 14 years and of 173 healthy individuals of the control group aged 1 to 12 years. Clinical and laboratory characteristics of patients were ascertained using their medical records.
View Article and Find Full Text PDFSevere 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.
View Article and Find Full Text PDFUnlabelled: As a long-term multisystem disorders, cardiovascular diseases can gravely affect on bone metabolism, prompting a severe bone loss and increasing predisposition to fractures and the development of osteoporosis.
Aim: The aim of the study was to analyze the peculiarities of bone mineral density (BMD), lipid spectrum, lipid peroxidation (LPO) and antioxidant system (AOS) activity in postmenopausal women with arterial hypertension (AH).
Materials And Methods: Using dual-energy X-ray absorptiometry, we measured BMD in 193 women aged 45-62 years with the Stage II of AH.