ABSTRACT
BACKGROUND: Multiple myeloma (MM) is the most common type of paraproteinemic hemoblastosis, which is characterized by an aggressive course, high mortality and a large number of complications. The G681A variant (*2, rs4244285) of the CYP2C19 gene leads to the formation of an inactive enzyme and, as a consequence, may affect the development and course of MM. The aim of this research was to analyze the effect of the G681A variant of the CYP2C19 gene on the risk of the development of MM and its course. MATERIALS AND METHODS: The study enrolled 158 patients with MM, who underwent standard clinical and laboratory studies: cytological, general clinical, biochemical, as well as molecular cytogenetic and molecular genetic. Cytogenetic analysis of chromosome abnormalities was performed using interphase fluorescence in situ hybridization. Genotyping by the G681A variant of the CYP2C19 gene was performed by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: No association was found between the G681A variant of the CYP2C19 gene and the risk of developing MM. The association between the presence of the G allele and GG genotypes with significant changes in clinical and biochemical parameters (plasma cell count, α2-globulin, calcium content) in MM patients has been established. In the presence of the G allele of the CYP2C19 gene, the development of chromosomal rearrangements del(13q14.2) or del(13q34) with significantly increased levels of albumin occurs more frequently. CONCLUSIONS: The G681A variant of the CYP2C19 gene does not affect the risk of developing MM, but it is associated with significant changes in the clinical and biochemical parameters that determine the severity of the disease and its prognosis. Further research is important to develop new target strategies and maintenance therapy for carriers of different variants of the CYP2C19 gene (G681A).
Subject(s)
Cytochrome P-450 CYP2C19 , Multiple Myeloma , Cytochrome P-450 CYP2C19/genetics , Genotype , Humans , In Situ Hybridization, Fluorescence , Multiple Myeloma/genetics , PrognosisABSTRACT
BACKGROUND: The infertile women have an increased risk of developing benign and malignant tumors, in particular, breast cancer. Most studies have examined the role of gene variants in the risk of developing breast cancer, but there is little evidence of genetic risk factors for benign tumors. AIM: To assess the combined genetic risk of developing mastopathy in women with FSHR (rs6165, rs6166) and ESR1 (rs9340799, rs2234693) gene variants. MATERIALS AND METHODS: The study included 87 infertile women (45 with concomitant fibrocystic mastopathy and 42 without mastopathy). RESULTS: For rs9340799 and rs2234693 variants of the ESR1 gene, we did not find any significant differences in the distribution of genotypes in infertile women with or without mastopathy. In patients with mastopathy, there was a reliable increase in the frequency of 307Ala/Ala and 680Ser/Ser genotypes of FSHR gene (χ2 = 6.39, p = 0.012, OR = 4.49 (1.48-13.65)) as compared to patients without mastopathy. In the presence of 307Thr/Thr and 680Asn/Asn genotypes of the FSHR gene, a 4.88-fold reduction of mastopathy risk (χ2 = 8.06, p = 0.005, OR = 0.21(0.07-0.59)) was observed. The frequency of the FSHR and the ESR1 genotypes combinations - 307Thr/Thr+680Asn/Asn+351AG+397TC was significantly decreased in patients with mastopathy. CONCLUSIONS: Our study did not find an association of ESR1 gene variants with the risk of developing of mastopathy in infertile women although heterozygous variants of the ESR1 gene enhanced the "protective" effect of FSHR gene variants and reduced the risk of mastopathy.
Subject(s)
Estrogen Receptor alpha/genetics , Fibrocystic Breast Disease/pathology , Genetic Predisposition to Disease , Infertility, Female/complications , Polymorphism, Single Nucleotide , Receptors, FSH/genetics , Female , Fibrocystic Breast Disease/etiology , Fibrocystic Breast Disease/metabolism , Follow-Up Studies , Genotype , Humans , Middle Aged , PrognosisABSTRACT
The present article is focused on the modern technologies for the medical rehabilitation of the children presenting with the hyperactive urinary bladder (UB) designed to promote the act of urination in the children at all levels of bladder innervation.
Subject(s)
Physical Therapy Modalities , Urinary Bladder, Overactive/rehabilitation , Child , Humans , Urinary Bladder/innervation , Urinary Bladder/physiopathologyABSTRACT
The effect of interference waves on natal injuries of the brachial plexus was studied in 31 patients. Positive trends were observed in muscular tone and performance, motor activity of the affected joints. Effectiveness of a course interference therapy reached 84.5%.
Subject(s)
Birth Injuries/therapy , Brachial Plexus/injuries , Electromagnetic Fields , Birth Injuries/physiopathology , Child , Child, Preschool , HumansSubject(s)
Birth Injuries/rehabilitation , Brachial Plexus/injuries , Electric Stimulation Therapy/methods , Health Resorts , Neuritis/rehabilitation , Adolescent , Birth Injuries/complications , Birth Injuries/physiopathology , Child , Child, Preschool , Combined Modality Therapy , Electric Stimulation Therapy/instrumentation , Electromyography , Female , Humans , Male , Neuritis/etiology , Neuritis/physiopathology , UkraineABSTRACT
The study involved 178 children aged 7-14 with mild or moderate-severity spastic diplegia and hemiparetic infantile cerebral paralysis (ICP) exposed to UHF electric field. The effect of this modality incorporation into ICP combined treatment was evaluated with regard to clinical manifestations, hemo- and cerebrospinal fluid dynamics, bioelectric activity of the brain, psychic functions, immunological reactivity, sympathetic-adrenal activity. There was a positive trend in the clinical and paraclinical parameters studied.
