1 March 16, 2016
1. Olga A. Baturina, Igor V. Morozov
Comparative Analysis of Phenylalanine Hydroxylase Mutations Spectrum in Novosibirsk and Kemerovo regions of Western Siberia, Russia
European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 4-11.
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2. Oksana G. CherniukhEuropean Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 4-11.
Abstract:
Results of phenylalanine hydroxylase (PAH) locus molecular genotyping for 115 phenylketonuria (PKU) patients and their family members from Novosibirsk and Kemerovo regions of Western Siberia are presented. The direct exons and adjacent introns regions sequencing was used to identify PKU-associated mutations. Mutations typical for Europe (p.R158Q, p.R252W, p.P281L, IVS10-11G>A, p.R408W, IVS12+1G>A) and typical for South-Eastern Asia and Turkey (p.R261Q и p.R243Q) were identified as well as a bunch of rare mutations (IVS2+5G>A, p.R155H, p.Y168H, p.W187R, E221_D222>Efs, p.A342T, p.Y386C, IVS11+1G>C). The p.R408W mutation was prevailing. Mutations spectrum for Novosibirsk region appeared to be more diverse than one for Kemerovo region.
Results of phenylalanine hydroxylase (PAH) locus molecular genotyping for 115 phenylketonuria (PKU) patients and their family members from Novosibirsk and Kemerovo regions of Western Siberia are presented. The direct exons and adjacent introns regions sequencing was used to identify PKU-associated mutations. Mutations typical for Europe (p.R158Q, p.R252W, p.P281L, IVS10-11G>A, p.R408W, IVS12+1G>A) and typical for South-Eastern Asia and Turkey (p.R261Q и p.R243Q) were identified as well as a bunch of rare mutations (IVS2+5G>A, p.R155H, p.Y168H, p.W187R, E221_D222>Efs, p.A342T, p.Y386C, IVS11+1G>C). The p.R408W mutation was prevailing. Mutations spectrum for Novosibirsk region appeared to be more diverse than one for Kemerovo region.
Number of views: 2446 Download in PDF
Peculiarities of Blood Group Distribution among Infants Born to Mothers with Negative Rh-Factor (Findings of 2014)
European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 12-18.
Number of views: 2245 Download in PDF
3. Ivan Milanov, Ksenia Kmetska, Boryana Popivanova, Ivanka Dimova, Tanya Kadiyska, Emilia Naseva, Veselina Grozeva European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 12-18.
Abstract:
Our works consider the investigation of possible manifestation of hyperbilirubinemia in infants against the ground of genetic incompatibilities of the fetus according to АВ0 system and Rh-factor (D) concerning the maternal organism. From this point of view we deal with jaundice of mixed genesis against erythroblastosis domination as a primary antenatal factor of pathological process formation. The present study presents the results of distribution of the group and rhesus determinants (Rh D) of infants born to mothers with negative Rh-factor in 2014. Analytical review and comparison with the previous investigations in this direction have been made. New trends of further work with the elements of chronobiological characteristics concerning possible signs of hemolytic diseases of newborns (HDN), neonatal isoerythrolysis, in Bukovyna region are outlined. The values of umbilical bilirubin concentration are taken as a biochemical criterion of HDN development which is the main diagnostic sign of pathological jaundice of newborns. The signs of HDN of various degree were observed in 24 infants out of 333 neonates born to mothers with negative Rh-factor during the period of 2014.
Our works consider the investigation of possible manifestation of hyperbilirubinemia in infants against the ground of genetic incompatibilities of the fetus according to АВ0 system and Rh-factor (D) concerning the maternal organism. From this point of view we deal with jaundice of mixed genesis against erythroblastosis domination as a primary antenatal factor of pathological process formation. The present study presents the results of distribution of the group and rhesus determinants (Rh D) of infants born to mothers with negative Rh-factor in 2014. Analytical review and comparison with the previous investigations in this direction have been made. New trends of further work with the elements of chronobiological characteristics concerning possible signs of hemolytic diseases of newborns (HDN), neonatal isoerythrolysis, in Bukovyna region are outlined. The values of umbilical bilirubin concentration are taken as a biochemical criterion of HDN development which is the main diagnostic sign of pathological jaundice of newborns. The signs of HDN of various degree were observed in 24 infants out of 333 neonates born to mothers with negative Rh-factor during the period of 2014.
Number of views: 2245 Download in PDF
HLA-G 14bp Deletion/Insertion Polymorphisms in Multiple Sclerosis
European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 19-24.
Number of views: 2195 Download in PDF
4. Adriana Repková, Anna Bútorová, Hana Padyšaková, Nina Sládeková, Elena Žiaková, Jaroslav Kresánek, Eva Balogová, Hana PadyšákováEuropean Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 19-24.
Abstract:
Background The intensive researches during the last 40 years have found the human major histocompatibility complex (HLA) as the only locus conclusively associated with multiple sclerosis (MS). Recently, a possible influence of HLA-G in MS has been suggested due to its significant role in immune tolerance. One of them, HLA-G 14bp INS/DEL, has not been intensively studies and the published studies reported controversial results. Aim The aim of the present study was to examine the association of HLA-G 14bp INS/DEL and MS. Methods We present a case control study with 51 patients (familial MS 39%) and 51 healthy controls. All cases were with definite MS according to McDonald’s criteria. The analysis of HLA-G 14bp INS/DEL was performed by PCR of DNA from peripheral blood. Results Overall comparison did not reveal statistically significant association between HLA-G 14bp INS/DEL and MS. A higher frequency of 14bpINS allele (60% vs 43%) and INS/INS genotype (40% vs 24%) was noted in the familial versus sporadic cases and controls. A significant correlation was found for genotype INS/INS in females. Surprising and reciprocal to the literature results were found in males. Genotype INS/DEL (high producers) was associated with higher risk, whereas INS/INS (low producers) was found to be protective. Conclusion HLA-G 14bp INS/INS is likely to be involved in familial MS and females in our population. The finding in males should be interpreted with a caution. The results warrant additional studies with international collaboration and larger sample size.
Background The intensive researches during the last 40 years have found the human major histocompatibility complex (HLA) as the only locus conclusively associated with multiple sclerosis (MS). Recently, a possible influence of HLA-G in MS has been suggested due to its significant role in immune tolerance. One of them, HLA-G 14bp INS/DEL, has not been intensively studies and the published studies reported controversial results. Aim The aim of the present study was to examine the association of HLA-G 14bp INS/DEL and MS. Methods We present a case control study with 51 patients (familial MS 39%) and 51 healthy controls. All cases were with definite MS according to McDonald’s criteria. The analysis of HLA-G 14bp INS/DEL was performed by PCR of DNA from peripheral blood. Results Overall comparison did not reveal statistically significant association between HLA-G 14bp INS/DEL and MS. A higher frequency of 14bpINS allele (60% vs 43%) and INS/INS genotype (40% vs 24%) was noted in the familial versus sporadic cases and controls. A significant correlation was found for genotype INS/INS in females. Surprising and reciprocal to the literature results were found in males. Genotype INS/DEL (high producers) was associated with higher risk, whereas INS/INS (low producers) was found to be protective. Conclusion HLA-G 14bp INS/INS is likely to be involved in familial MS and females in our population. The finding in males should be interpreted with a caution. The results warrant additional studies with international collaboration and larger sample size.
Number of views: 2195 Download in PDF
Impact of Cantienica® Method to Improve Urinary Incontinence and Quality of Life
European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 25-33.
Number of views: 2237 Download in PDF
5. Anh Tran Tuan, Dang Tran Van, An Nguyen Phan Hong, Dung Manh Truong, Vo Truong Nhu Ngoc, Phuong Nguyen Thi Thu, Tran Tuan AnhEuropean Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 25-33.
Abstract:
Background: The aim of this study was to determine the impact of symptoms of urinary incontinence by individuals, with the help of pelvic floor muscle's activation using Cantienica® and the subsequent effect on the quality of women's life. Patients and methods: The selected sample consists of two groups - experimental and control. The experimental group consisted of 31 female patients with incontinence, who completed therapeutic exercises using features of Cantienica® method. Control group consisted of 31 female patients with incontinence, which had taken a different way of conservative therapy. Results: The research has found that in the group of female patients who completed the therapeutic exercise by Benita Cantieni method, came in both phases to significantly greater change in the quality of life and greater alleviation of incontinence among the women who completed the other conservative treatments of incontinence. Conclusion: It can be alleged by the observed results, that the evaluated method has an effect on improving the quality of life and alleviating the symptoms of urinary incontinence in women.
Background: The aim of this study was to determine the impact of symptoms of urinary incontinence by individuals, with the help of pelvic floor muscle's activation using Cantienica® and the subsequent effect on the quality of women's life. Patients and methods: The selected sample consists of two groups - experimental and control. The experimental group consisted of 31 female patients with incontinence, who completed therapeutic exercises using features of Cantienica® method. Control group consisted of 31 female patients with incontinence, which had taken a different way of conservative therapy. Results: The research has found that in the group of female patients who completed the therapeutic exercise by Benita Cantieni method, came in both phases to significantly greater change in the quality of life and greater alleviation of incontinence among the women who completed the other conservative treatments of incontinence. Conclusion: It can be alleged by the observed results, that the evaluated method has an effect on improving the quality of life and alleviating the symptoms of urinary incontinence in women.
Number of views: 2237 Download in PDF
The Study of Some Anteroposterior Cranial Indicators on Cephalometric in a Vietnamese Group Age 18-25 with Normal Occlusion
European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 34-39.
Number of views: 2176 Download in PDF
6. European Journal of Medicine, 2016, Vol.(11), Is. 1, pp. 34-39.
Abstract:
Objective: assessement the sagittal relationship index on Cephalometric. Subjects of study: 42 Vietnamese aged 18-25 with normal occlusion. Method: clinical description on digital Cephalometric. Results and conclusion: SNA (male 82,64± 2,19; female 81,16±2,42); SN-Mp cắn (male 13,45±1,25; female 81,16±2,42); SNB (male 81,65± 2,25; female 79,85± 2,30); NPog – POr (male 85,84± 1,24; female 84,09±5,56); Angle Y(0) (male 61,71± 2,47; female 61,20±5,80), ANB (male 2,14±0,13; female 2,05±0,12); U1 – SN (0) (male 101,03±1,83; female 100,45±1,67); U1 –NA (0) (male 22,52±1,78; nữ 22,33± 1,88); U1–NA (male 5,10±0,61mm; female 4,99±1,28mm); U1-L1 (0) (male 123,38±2,27; female 120,36±2,05); L1 –MeGo (0)(male 94,98±0,80; female 94,48±0,82); L1 – NB (0)( male 94,98±0,80; female 94,48±0,82).
Objective: assessement the sagittal relationship index on Cephalometric. Subjects of study: 42 Vietnamese aged 18-25 with normal occlusion. Method: clinical description on digital Cephalometric. Results and conclusion: SNA (male 82,64± 2,19; female 81,16±2,42); SN-Mp cắn (male 13,45±1,25; female 81,16±2,42); SNB (male 81,65± 2,25; female 79,85± 2,30); NPog – POr (male 85,84± 1,24; female 84,09±5,56); Angle Y(0) (male 61,71± 2,47; female 61,20±5,80), ANB (male 2,14±0,13; female 2,05±0,12); U1 – SN (0) (male 101,03±1,83; female 100,45±1,67); U1 –NA (0) (male 22,52±1,78; nữ 22,33± 1,88); U1–NA (male 5,10±0,61mm; female 4,99±1,28mm); U1-L1 (0) (male 123,38±2,27; female 120,36±2,05); L1 –MeGo (0)(male 94,98±0,80; female 94,48±0,82); L1 – NB (0)( male 94,98±0,80; female 94,48±0,82).
Number of views: 2176 Download in PDF