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Fundamental and Clinical Medicine

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Vol 4, No 3 (2019)
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ORIGINAL RESEARCH

8-14 1212
Abstract

Aim. To study the polymorphisms of CYP11A1, CYP17A1, and CYP19A1 genes in women with polycystic ovary syndrome (PCOS) of reproductive age in comparison with women without PCOS.

Materials and Methods. We consecutively recruited 94 women with polycystic ovary syndrome of reproductive age and 94 age-matched healthy women. All patients were subjected to molecular genetic analysis of pentanucleotide ((tttta)n) polymorphism at -528 position within the promoter region of the CYP11A1 gene, rs743572 polymorphism within the CYP17A1 gene, and rs2470152 polymorphism within the CYP19A1 gene. We further compared the frequencies of respective genotypes and alleles between the groups.

Results. Genotype distribution of the indicated polymorphisms did not differ significantly between the groups. However, for CYP11A1 (tttta)n polymorphism, a trend to the accumulation of the alleles with a large number of (tttta)n-repeats was observed in women with polycystic ovary syndrome as compared to healthy women. The most common were VNTR genotypes with 6/6, 6/8 and 8/8 pentanucleotide repeats.

Conclusion. The studied polymorphisms of cytochrome genes did not affect the risk of PCOS in the examined group of women. Our study may be useful for the further meta-analyses related to the genetic predisposition to PCOS. 

15-21 604
Abstract

Aim. To identify informative predictors of severe cerebral ischemia in preterm neonates.

Materials and Methods. Study sample consisted of 80 preterm infants with intrauterine hypoxia or perinatal asphyxia delivered on the 28th-34th week of gestation. Levels of matrix metalloproteinase-9 (MMP-9) and thiobarbituric acid reactive substances (TBARS) as well as activity of antioxidant enzymes superoxide dismutase, catalase, and glutathione peroxidase in cord blood plasma of premature infants were evaluated immediately after birth.

Results. As compared to other newborns, neonates with severe cerebral ischemia had higher levels of MMP-9 (MMP-9 > 305.6 ng/mL in 14.6% versus 69.7%, respectively) and TBARS in cord blood plasma.

Conclusion. MMP-9 and TBARS measured in cord blood plasma of preterm infants may be utilised in diagnostics of severe cerebral ischemia. 

22-26 620
Abstract

Aim. To determine the role of organic acids in the pathogenesis of missing abortion.

Materials and Methods. To analyze the endometrial organic acid content, we applied high performance liquid chromatography. Sampling was performed from 20 women with missed abortion and 10 patients with normal pregnancy utilising the vacuum aspiration. Following protein separation by means of double centrifugation and ultrafiltration, supernatant was profiled for the organic acids.

Results. Women who experienced missing abortion had significantly higher concentrations of serum and endometrial lactic acid concentrations (10.01 ± 0.16 and 8.28 ± 0.20 mmol/L, respectively) than those with healthy pregnancy (8.16 ± 0.24 and 7.57 ± 0.20 mmol/L, respectively). In contrast, endometrial pyruvic acid level was lower in abortion group (27.71 ± 0.04 mmol/L) as compared to the controls (34.1 ± 0.40 mmol/L). Furthermore, 4-hydroxyphenylacetic acid was found exclusively in women with missed abortion.

Conclusion. Changes in organic acid profile may play a major role in pathogenesis of missed abortion. Serum and endometrial 4-hydroxyphenylacetic acid can be suggested as a novel biomarker of early pregnancy loss. 

27-33 601
Abstract

Aim. To study complications and perinatal outcomes of multiple pregnancy in women of the Altai Region.

Materials and Methods. We recruited 678 consecutive pregnant women, including 378 with multiple pregnancy, with the subsequent analysis of clinical and ultrasound examination data as well as perinatal outcomes.

Results. Women with multiple pregnancy were characterised by a significantly higher rate of gynecological and somatic diseases including pregnancy-related anemia (20.2% versus 4.3% in women with multiple and singleton pregnancy, respectively, OR = 6.0, 95% CI = 3.2-11.3). Further, multiple pregnancy was a significant risk factor for preterm birth (62.26% and 21.82%, respectively, OR = 5.9, 95% CI = 4.2-8.4, p ≤ 0.001). Application of cervical pessary was able to prolong the multiple pregnancy for 4 weeks.

Conclusion. Prevention of threatening preterm birth in women with a multiple pregnancy using a cervical pessary improves perinatal outcomes. 

34-40 779
Abstract

Aim. To determine whether the cervical elongation affects long-term outcomes of reconstructive surgery of pelvic organ prolapse.

Materials and Methods. We consecutively enrolled 99 patients with grade 2-3 pelvic organ prolapse (Pelvic Organ Prolapse Quantification System) who underwent vaginal mesh surgery. Volume and length of the cervix were measured using vaginal ultrasonography immediately before the surgery. Cervical elongation was defined as cervix > 6 cm in length (n = 55). Upon 1 year of follow-up, we evaluated the primary outcome (pelvic organ prolapse) and secondary outcomes (cervical length and volume).

Results. After 1 year of follow-up, cervical elongation was still detected in 18.1% of patients with cervical elongation before the surgery but not in those without (p = 0.008). Dyspareunia was documented in 14.5% and 2.2% of women with and without cervical elongation, respectively (p = 0.034). In patients with cervical elongation, the length of the cervix before the surgery and after 1 year of follow-up was 7.6 (7; 7.9) cm and 8.4 (7.9; 8.9) cm, respectively (p = 0.001); the respective values of cervical volume were 23.7 (23.4; 24.4) cm3 and 26.9 (25.7; 31.9) cm3 , respectively (p = 0.001); however, these differences were insignificant in patients without cervical elongation.

Conclusion. Cervical excision may be recommended for the patients with pelvic organ prolapse and concurrent cervical elongation (length of the cervix > 6 cm). Cervical preservation in such patients may lead to progression of the elongation even after the correction of pelvic organ prolapse. 

41-47 538
Abstract

Aim. To identify measures for the improvement of obstetric techniques and telemedicine technologies in women with major obstetric haemorrhage.

Materials and Methods. We analyzed medical documentation of 54 women in Altai Krai who experienced major obstetric haemorrhage within 28- 36 weeks of gestation before (2008-2012) and after (2013-2017) implementation of risk management using the telemedicine “Registry of pregnancies” technology.

Results. Implementation of risk management principles led to the admission of women with major obstetric haemorrhage exclusively to specialised hospitals in contrast to the preceding period. Further, it was associated with a higher prevalence of caesarean sections (from 55.6% to 96.3%) in women with major obstetric haemorrhage due to an increase in cases of complete placenta previa or placenta increta. In 73.0% of cases, such patients delivered in specialised hospitals where autologous blood transfusion or intrauterine balloon tamponade could be applied. In spite of increase in frequency of major obstetric haemorrhages, risk management reduced their severity by decreasing blood loss and, hence, the risk of posthaemorrhagic complications and blood transfusion side effects.

Conclusions. Risk management-based strategy for optimising obstetric care by telemedicine technologies leads to the admission of high-risk, even “near miss” patients in specialised hospitals that is particularly efficient in regions with low population density and a large network of primary healthcare facilities. 

48-53 821
Abstract

Aim. To study reproductive health of women with and without eating disorders.

Materials and Methods. We designed an original questionnaire, surveyed and analyzed the medical records of 200 women of reproductive age.

Results. All the study participants suffered from eating disorders. Out of 200 patients, 46 (23%), 120 (63%), and 34 (17%) had emotional, restrictive, and external eating disorders, respectively. Women with normal body mass index (BMI) or overweight were more likely to have an avoidant/restrictive food intake disorder while emotional and external types prevailed among obese patients. Fibrocystic breast changes, uterine fibroids, polycystic ovary syndrome, infertility, and breast cancer were significantly more common in women with obesity (r = 0.74 for gynecological diseases in total). Pelvic inflammatory disease was more frequently diagnosed in women with emotional eating disorders while fibrocystic breast changes, uterine fibroids, and polycystic ovary syndrome were more prevalent in those with restrictive food intake disorder. Breast cancer prevailed in women with external eating disorders.

Conclusion. Women of reproductive age are frequently diagnosed with different types of eating disorders. Obese women are more likely to have reproductive system disease. Each of eating disorders correlate with different gynecological diseases. 

52-60 831
Abstract

Aim. To determine features, course, complications, and outcomes of pregnancy in women with severe anemia.

Materials and Methods. We retrospectively analysed 39 case histories of women with severe anemia during pregnancy who delivered in Reshetova Kemerovo Regional Perinatal Center during 2017-2018.

Results. Average age of women was 30 ± 5 years (average age of sexual debut 17 ± 1 years). The proportions of primiparous and smoking women were 28% and 56%, respectively. More than two-thirds (69%) of women suffered from chronic anemia before the pregnancy, and 21% were HIVinfected. Average first visit to the obstetrician was registered during the second trimester (at 14 ± 6 weeks of gestation), and 13% did not receive the medical care during the pregnancy. The prevalence of preterm and emergency childbirth was 31% and 69%, respectively; 80% of patients required a Cesarean section, and the average birth weight was 2,820 ± 805 g. Intrauterine growth restriction was observed in 28% of cases. Average values of hemoglobin at the first visit, at hospital admission, and at the time of blood transfusion were 103 ± 13 g/L, 74 ± 8 g/L, and 65 ± 4 g/L, respectively; average serum iron at the first visit and at hospital admission was 11 ± 5 µmol/L and 8 ± 3 µmol/L, respectively. Iron replacement therapy was inefficient in 84% of women who received it (90%).

Conclusion. In the majority of cases, severe anemia developed from chronic anemia which had occurred before pregnancy and could not be corrected by means of iron replacement therapy. Pregnant women with severe anemia often require Cesarean section due to pre-eclampsia. 

61-67 928
Abstract

Aim. To study the chromatographic efficiency of modified Sepharose CL-4B sorbents for separation, purification, and preparation of major components from Hedysarum theinum Krasnob. and Hedysarum neglectum Ledeb. root extracts.

Materials and Methods. Sorption capacity of the native and modified sepharose was evaluated in both isocratic and gradient elution modes. 4-pyridinecarboxylic acid derivative [(4-hydroxy-3-methoxyphenyl)methylene]hydrazide (ftivazide) was used as a sorbent modifier ligand. We studied chromatographic properties of Sepharose CL-4B, Sepharose CL-6B, and azoepoxyadsorbent Sepharose CL-4B-DEP-p-nitrobenzohydrazide-ftivazide, a chemically modified analogue of Sepharose CL-4B.

Results. Sepharose CL-4B and Sepharose CL-4B-DEP-p-nitrobenzohydrazide-ftivazide were found efficient carriers for liquid column chromatography of water-ethanol Hedysarum extracts. Complete elution of bioactive substances has been achieved exclusively by using sodium tetraborate as an eluent. We were able to identify flavonoids and tannins of different condensation in chromatographic fractions.

Conclusion. Comparative chromatography of bioactive substances from Hedysarum root extracts is more efficient if employing Sepharose CL-4B instead of Sepharose CL-6B as a sorbent. Sepharose CL-4B-DEP-p-nitrobenzohydrazide-ftivazide demonstrates excellent separation capacity for tannins and flavonoids. 

68-76 652
Abstract

Aim. To analyze epidemic intensity and long-term dynamics of Siberian tick typhus (STT) in Siberian and Far Eastern regions of Russian Federation.

Materials and Methods. We analyzed STT incidence in different regions of Siberia and Far East during 2002-2018 utilising standardised data. Regions were further ranked according to incidence levels.

Results. Cases of STT were regularly documented in 17 regions of Siberia and Far East. In six regions (Republic of Khakassia, Altai, Amur, Tyumen, Irkutsk, and Krasnoyarsk Region), a declining trend was revealed while in four regions there was a trend towards an increase in STT incidence (Republic of Tyva, Khabarovsk Region, Novosibirsk Region, and Omsk Region).

Conclusion. The monitoring of STT foci and reservoirs natural foci in endemic areas in Central Asia is needed to predict the trends in STT incidence in Siberia and Far East. 

REVIEW ARTICLES

77-82 895
Abstract
Despite extensive investigations, the causes of endometriosis and mechanisms of its development are largely unknown. Here we review the existing theories, analyzing the risk factors and triggers of endometriosis. We suggest that all cases of endometriosis are initiated through a common pathophysiological mechanism which involves all downstream molecular pathways.
83-94 1855
Abstract
Here we review the physiology of brain ependymocytes which produce cerebrospinal fluid, regulate neurogenic niches, and contribute to neurogenesis in health and disease. We particularly focus on cilia as these organelles are pivotal to ensure the normal functioning of ependymocytes. The functional activity of ependymocytes is largely defined by their localisation in the central nervous system. Further studies of ependymal cell biology are required to better understand the mechanisms of neurological disorders and to discover novel therapeutic strategies aimed at correcting neurodegeneration and aberrant development of the brain.
95-101 1140
Abstract
Here we review the current experience of using cytokinesis-block micronucleus (CBMN) assay on cultures of human lymphocytes to evaluate genotoxic effects of anticancer drugs. Having performed search in PubMed, Scopus, Web of Science, TOXLINE, and the Cochrane Library, we identified a total of 172 relevant studies. Out of them, 89 were conducted in vitro, and 41 were published within the last decade. The mentioned studies concordantly demonstrated a significant increase in micronuclei, protrusions, nucleoplasmic bridges, and a decrease in proliferation in cells treated with anticancer drugs in a time- and dose-dependent manner. Notably, the results of CBMN assay are consistent with the data obtained from other cytogenetic techniques (comet assay, chromosomal aberration analysis, analysis of mutations in housekeeping genes, and fluorescence in situ hybridisation). Conclusion. CBMN assay permits a reliable evaluation of the mutagenic effects related to anticancer drugs.
102-112 8131
Abstract
Annually, there > 30,000 infants are born with congenital heart defects; in different populations, the prevalence of congenital heart disease (CHD) varies from 2.4 to 14.15%. Women with CHD planning pregnancy are at increased risk of heart failure, arrhythmias, cerebrovascular disease, and embolism. In such patients, pregnancy course is complicated by intrauterine growth restriction, pre-eclampsia, and preterm birth. Their newborns generally have a low birth weight and high risk of congenital malformations including heart defects. European Society of Cardiology (ESC) developed risk assessment-based guidelines to optimise the management of pregnant women with CHD. This approach requires a cooperation of obstetrician-gynecologists, general practitioners, and cardiologists.
113-121 1454
Abstract
Groin hernias occur in 27–48% of men and 3–6% of women during lifetime. Among the causes are inherited or age-related connective tissue or muscular dysplasia, lack of diverticular obliteration in fetal parietal peritoneum, pre-peritoneal lipomas migrating into the hernia ring, and congenital, postpartum, or postoperation dilation of the femoral ring. Physical examination and examination of the preperitoneal space reveals hernia in 93% and 100%, respectively, yet ultrasound examination, computed tomographic peritoneography, magnetic resonance imaging are also employed to confirm the diagnosis. An established technique for the treatment of groin hernias includes opening the inguinal canal, high ligation of the hernia sac, and repair of the inguinal canal, altogether termed herniorrhaphy. Suprapubic or inguinal incision permits closure of the hernia sac without involving the inguinal canal (herniotomy). Implementation of synthetic meshes led to the increase in hernioplasty, i.e. reinforcement of the inguinal canal upon the inguinal canal repair. Laparoscopic transabdominal preperitoneal (TAPP) and totally extraperitoneal (TEP) hernioplasty became widely used along with the development of endoscopic surgery. In these techniques, mesh is placed between the peritoneum and transversalis fascia, closing both inguinal canal and femoral ring. Overall, modern surgical techniques reduced the time of treatment, disability and disease recurrence to 1.4–2%.

CASE REPORTS

122-127 1313
Abstract
Here we present current data on epidemiology, mechanisms of development, and clinical symptoms of pituitary insufficiency ascribing a case of a 27-year-old woman who became pregnant and successfully delivered with a partial hypopituitarism without a hormone replacement therapy. We particularly focus on the difficulties in timely diagnosis of pituitary insufficiency, as partial hypopituitarism is characterised by a variety of non-specific symptoms. A particular attention should be drawn to the physicians’ awareness on partial hypopituitarism, as its case fatality rate remains unacceptably high.
128-132 12932
Abstract
Primary familial brain calcification (familial idiopathic basal ganglia calcification, Fahr’s disease) is a rare neurodegenerative syndrome characterised by a symmetrical bilateral calcification in the basal ganglia, dentate nucleus, cerebral cortex, and other regions of the brain. The widespread use of multislice computed tomography and magnetic resonance imaging increased the number of diagnosed cases, yet neither causes nor efficient treatment of this disease are known to date. Due to variable symptoms, primary familial brain calcification can resemble multiple neurological, mental, and endocrine disorders. Here we describe a case of a 38-year-old woman where timely multislice computed tomography led to the proper diagnosis and successful treatment.


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ISSN 2500-0764 (Print)
ISSN 2542-0941 (Online)