Importance of polymorphic variants of Tumour Necrosis Factor - α gene in the etiology of Intrauterine Growth Restriction.

OBJECTIVES: Intrauterine growth restriction (IUGR) is one of the main global causes of increased perinatal mortality and fetal and neonatal morbidity. It remains a key challenge for modern perinatal medicine. Negative effects of IUGR are manifested not only in the perinatal period but also at the later stages of life. Proinflammatory cytokines and their polymorphisms are hypothesized to play an important role in IUGR pathomechanisms. The aim of the study was to determine the role of selected polymorphisms (-238G >A, -308G >A and -376G >A) of tumor necrosis factor alpha (TNF-α) in the etiology of intrauterine growth restriction. MATERIAL AND METHODS: The study included 120 patients with IUGR (mean age 30.32, mean gestational age 36.34 gestational weeks) and 135 healthy pregnant women (mean age 31.63, average week of delivery 38.76). The investigated polymorphisms were determined by PCR/RFLP methods. RESULTS: Higher frequency of TNF-α mutated allele -308A was found in a subgroup of women whose pregnancy en-ded < 37 weeks (18.5 vs. 12.2% in control , OR = 1.63, p = 0.09) and in the subgroup of women with a score ≥ 3 UAS (20.6 vs. 12.2% in control , OR = 1.86, p = 0.06). Heterozygous genotype -308GA was associated with at least 3 times greater risk of three or four abnormalities in uterine arteries score (41.2 vs. 20.0 in control, OR = 2.80, p = 0.01). CONCLUSIONS: The obtained results suggest that the -308G >A TNF-α gene variant may play a role in the etiology of IUGR in the Polish population, but further studies on larger groups are needed.

[TAPS sequence--unknown and underestimated problem of monochorionic pregnancies]. / Zespól TAPS--nieznany i niedoceniany problem ciaz jednokosmówkowych.

Monochorionic twin pregnancy is associated with an increased perinatal morbidity and mortality Placental anastomoses are typical for monochorionic pregnancies and may play a role in the development of severe complications such as twin-twin transfusion syndrome (TTTS) and recently discovered twin anemia-polycythemia sequence (TAPS). Both TTTS and TAPS are the chronic form of feto-fetal transfusion. There is a typical oligohydramnios/polyhydramnios sequence in the TTTS syndrome, whereas TAPS is characterized by large inter-twin hemoglobin difference in the absence of amniotic fluid discordances. The paper presents a case of TAPS at 20 weeks of gestation in a 35-year-old primigravida with monochorionic, diamniotic pregnancy TAPS was the cause of Intrauterine fetal death of one of the twins. In the absence of signs of fetal distress an expectant management was considered. An elective cesarean section was performed at 35 weeks of gestation due to decelerations in CTG. This paper presents a clinical case, as well as diagnostic criteria, classification, perinatal management and outcome in TAPS. The review of the literature is also included, focusing on the diagnostic differences between TAPS and TTTS, two distinct variants of feto-fetal transfusion. This case presents a twin anemia-polycythemia sequence, a rare and heterogeneous disease with a wide range of outcome. TAPS may remain undetected during pregnancy and result in the delivery of two healthy neonates with large inter-twin hemoglobin discordance. Unfortunately TAPS may also lead to intrauterine fetal demise of one or both twins, particularly in cases when it is undetected and untreated.

[Inherited thrombophilia in women with recurrent miscarriages and pregnancy loss in anamnesis--own experience]. / Trombofilia dziedziczna u kobiet z poronieniami nawracajacymi oraz utratami ciazy w wywiadzie--doswiadczenia wlasne.

Single nucleotide polymorphisms of the genes coding for coagulation factors are the cause of congenital thrombophilia which might lead to recurrent miscarriages and fetal loss in advanced pregnancy. The most frequent reasons of thrombophilia are the following: factor V Leiden (1691G>A), mutation 20210G>A of prothrombin gene, and 677C>T of 5, 10-methylenetetrahydrofoliate reductase gene. The following article briefly summarizes the administration of antithrombotic prophylaxis (low-molecular weight heparin, acetylsalicylic acid) which seems to be an effective course of action to prevent complications in next pregnancies. What is more, adverse events after long-term usage of low-molecular weight heparin and acetylsalicylic acid in prophylactic doses have not been observed. Due to lack of complete randomized investigation about the inclusion of antithrombotic prophylaxis in this group of pregnant women, common scheme of administration and optimal dosage is yet to be established.

[The significance of beta-3 adrenergic receptor polymorphism in excessive body gain and obesity development in pregnant women]. / Znaczenie polimorfizmu receptora beta-3 adrenergicznego w przypadku nadmiernego przyrostu masy ciala oraz rozwoju otylosci u ciezarnych.

The current knowledge allows for the definition of the genetic factors contributing to pathological body mass gain and obesity development. One of the possible candidates is the gene of beta3-adrenergic receptor (ADRB3). Due to the fact that the basic function of this receptor is the induction of thermogenesis process and an increase of energy expenditure, the significance of Trp64Arg polymorphism of ADRB3 gene in disturbances of metabolic processes, which may induce disturbances of adipocytes function and lead to excessive body mass gain, obesity and early beginning of diseases connected with obesity (dyslipidemia, obesity, chronic hypertension, diabetes mellitus type II), has been suggested. The investigations performed in pregnant women concern, in the majority of cases, women with obesity, diabetes mellitus and gestational hypertension. These studies indicate the possible correlation of higher value of body mass index (BMI) with the presence of mutated 64Arg allele. In healthy pregnant women the relationship between Trp64Arg polymorphism of ADRB3 receptor and body gain has been suggested. Additionally, in female carries of the mutated 64Arg allele, a higher placenta mass and birth mass of newborns have been noted. This publication is merely single voice in the discussion because only one cause of excessive body gain and obesity presented here - Trp64Arg polymorphism of ADRB3 receptor. The problem seems to be more complicated and requires an investigation of the influence of other genetic and environmental factors, and the future populate investigations in Trp64Arg polymorphism of ADRB3 receptor.

[The insertion/deletion polymorphism (I/D) of the ACE gene in pregnant women with excessive weight gain]. / Polimorfizm insercyjno-delecyjny (I/D) genu ACE u kobiet ciezarnych z nadmiernym przyrostem masy ciala.

INTRODUCTION: The body mass gain is conditioned by lifestyle, as well as many environmental and genetic factors. Recent studies suggest that renin-angiotensin system (RAS) plays a fundamental role in process of growth and differentiation of adipocytes through the acting of angiotensin II and seems to be a significant factor in excessive weight gain development. The purpose of this study was to determine the frequency and significance of insertion/deletion polymorphism (I/D) of the ACE gene in pregnant women with excessive weight gain. MATERIALS AND METHODS: The examined group consisted of 212 pregnant women, including 107 women with normal (DeltaBMI< or =5) and 105 women with excessive weight gain (DeltaBMI>5). Genomic DNA was extracted from venous blood. The I/D polymorphism of ACE gene was determined by polymerase chain reaction (PCR). RESULTS: During the course of the study we did not observe the statistically significant higher frequency of ACE genotypes in any of the two investigated groups of women with normal and excessive weight gain. Nevertheless, an overrepresentation of II genotype frequency in group with excessive weight gain has been observed (33.3 vs 21.5%, p=ns). The same findings were visible as far as the frequency of I allele in group with excessive weight gain was concerned (55.2 vs 45.8%, p=ns). The frequency of observed genotypes was in agreement with Hardy-Weinberg equilibrium. CONCLUSIONS: Although overrepresentation of II genotype and I allele in the group of pregnant women with excessive weight gain (DeltaBMI>5) has been observed, a close correlation between II genotype and higher risk of overweight could be not indicated (due to the lack of significant difference). The results should be confirmed in a more numerous group of pregnant women. At this stage the results of the study did not suggested the presence of association of I/D polymorphism of ACE gene with weight gain in investigated group of pregnant women.

[The safety and tolerance of isoflavones (Soyfem) administration in postmenopausal women]. / Bezpieczenistwo i tolerancja stosowania standaryzowanego ekstraktu izoflawonów (Soyfem) u kobiet po menopauzie.

INTRODUCTION: In recent years, considerable attention has been paid to isoflavones and their proprieties to alleviate the climacteric symptoms. The goal of this study was to evaluate the efficacy of standardized isoflavones extract (Soyfem) in moderate and medium-severe climacteric syndrome. MATERIAL AND METHODS: 555 postmenopausal women were recruited for the study. Out of this group, 169 women completed the study (12-month observation period). The patients were classified according to the intensity of climacteric symptoms (< or =34 points in Kupperman index). 1 or 2 tablets of Soyfem were administered twice a day,. RESULTS: A regular decrease of Kupperman index value and improvement of life quality were observed in the group of 169 postmenopausal women. We have noted a decrease in the intensity and number of hot flushes, diaphoresis (p < 0.05), diminished sleep disturbances (p < 0.05), decreased headache, dizziness, and arthrosis pain. The diminished intensity of tiredness, palpitation and breathlessness have been also observed (p < 0.05). 80% of all investigated women noted the regression of paresthesis, 20% indicated the decreased number of paresthesis (p < 0.05). Influence of Soyfem on the variability and moderation of depressive mood (p < 0.05) have been also positive evaluated by patients. CONCLUSIONS: Administration of Soyfem in the dosage 52 to 104 mg/24 hours (2 times daily 1 or 2 tablets) is a safe and effective therapy in the postmenopausal women with moderate and medium-severe climacteric syndrome evaluated according to the Kupperman index. Administration of Soyfem is connected with a good compliance and correlated with well-being in the investigated women allowing a long-term administration.

[Efficacy of standardized isoflavones extract (Soyfem) (52-104 mg/24h) in moderate and medium-severe climacteric syndrome]. / Skutecznosc dzialania standaryzowanego ekstraktu izoflawonów sojowych (Soyfem) (52-104 mg/24h) w umiarkowanym i srednio ciezkim zespole klimakterycznym.

INTRODUCTION: In recent years, considerable attention has been paid to isoflavones and their proprieties to alleviate the climacteric symptoms. The goal of this study was to evaluate the efficacy of standardized isoflavones extract (Soyfem) in moderate and medium-severe climacteric syndrome. MATERIAL AND METHODS: 555 postmenopausal women were recruited for the study. Out of this group, 169 women completed the study (12-month observation period). The patients were classified according to the intensity of climacteric symptoms (< or = 34 points in Kupperman index). 1 or 2 tablets of Soyfem were administered twice a day. RESULTS: A regular decrease of Kupperman index value and improvement of life quality were observed in the group of 169 postmenopausal women. We have noted a decrease in the intensity and number of hot flushes, diaphoresis (p < 0.05), diminished sleep disturbances (p < 0.05), decreased headache, dizziness, and arthrosis pain. The diminished intensity of tiredness, palpitation and breathlessness have been also observed (p < 0.05). 80% of all investigated women noted the regression of paresthesis, 20% indicated the decreased number of paresthesis (p < 0.05). Influence of Soyfem on the variability and moderation of depressive mood (p < 0.05) have been also positive evaluated by patients. CONCLUSIONS: Administration of Soyfem in the dosage 52 to 104 mg/24 hours (2 times daily 1 or 2 tablets) is a safe and effective therapy in the postmenopausal women with moderate and medium-severe climacteric syndrome evaluated according to the Kupperman index. Administration of Soyfem is connected with a good compliance and correlated with well-being in the investigated women allowing a long-term administration.

[Obesity in pregnant women as a problem in obstetrics]. / Otylosc ciezarnych jako problem w poloznictwie.

Obesity, one of the most common civilization diseases, is currently one of the major health problems in the society. It is estimated that in industrialized countries excessive weight appears in more than 30% of adult population, with adult women comprising 50% of the group. Considerable amount of attention is paid to the course, delivery and puerperium in women with excessive weight and obesity during pregnancy. A close correlation to fetal macrosomia, increased ratio of caesarean sections and perinatal death of fetuses has been indicated in this group. Spontaneous birth increases the risk of shoulder dystocia and brachial plexus injury in newborns. Much attention is also paid to higher risk of anesthesiological complications (difficulties in intubation, necessity of high dosages of anesthetic medication administration, problems with subarachnoideal and epidural anesthesia). An increased risk of endometritis in puerperium, thrombosis, vulvitis and infections of urinary tract have been observed in obese women. Maternal obesity is correlated with decreased percentage of breast-feeding women. Particular medical care and long-term observation should be applied in case of children of obese women, as the former are at a high risk of obesity in puberty and in adult life. Nowadays, it is suggested that maternal excessive body mass should be regulated before conception and the course of pregnancy in obese women should be closely monitored. Above-mentioned arguments seem to be reason enough for future investigations of etiology and treatment of obesity in pregnancy.

Distribution of polychlorinated biphenyls, organochlorine pesticides and polybrominated diphenyl ethers in human umbilical cord serum, maternal serum and milk from Wielkopolska region, Poland.

The levels of organochlorinated pesticides (OCPs): p,p'-DDT and its metabolites, hexachlorobenzene (HCB), hexachlorocyclohexane isomers (HCHs), chlordanes and their metabolites, and 18 polychlorinated biphenyl (PCB) congeners were measured in maternal serum, umbilical cord serum and human milk collected from 22 mothers living in the Wielkopolska region, Poland. Additionally, 11 polybrominated diphenyl ether (PBDE) congeners were measured in the human milk samples. p,p'-DDT and its major metabolite, p,p'-DDE, together with HCB, were found in all milk and serum samples. Median concentrations of p,p'-DDE in maternal serum, umbilical cord serum and milk were 343, 329 and 634ng/g lipid weight (lw). PCB congeners 138, 153 and 180 were the major congeners measured in all serum samples, while CB 170 was detected in 74% and 100% of umbilical cord and maternal serum, respectively. Except for CBs 74, 101 and 105, which had a detection frequency of 77%, 23% and 82%, respectively, all investigated PCB congeners were measured in all human milk samples. The median concentrations of sum PCBs in maternal serum, umbilical cord serum and milk were 79, 60 and 133 ng/g lw, respectively. A good correlation (Spearman R(S)>0.75, p<0.001) was found for major PCBs, p,p'-DDT and p,p'-DDE, between maternal and umbilical cord serum, while the correlation was weaker between milk and serum. The median of sum PBDEs in human milk was 2.0 ng/g lw (range 0.8 to 8.4), with BDE 47 being always the most abundant PBDE congener and, together with BDE 153, being present in all samples. In general, results found in the investigated group are at the low end of the concentration range measured in Europe.