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Biomedical subjects

S Sifakis

Publications and source records attributed to S Sifakis.

At least 19 recordsLinked to original sources
PubMed2006

A report of pure 7p duplication syndrome and review of the literature.

We report on a case of a 9-month-old female infant with a direct duplication of the 7p13-p22.1 chromosome region diagnosed by combining conventional cytogenetic, FISH, and multicolor banding (MCB) studies. Traditional G-banding detected a partial 7p duplication, which was further demonstrated to be entirely of chromosome 7 origin by using a whole chromosome paint for chromosome 7, and derived from 7p13-p22.1 by MCB. The infant presented with characteristic dysmorphic features, psychomotor retardation, and generalized hypotonia. The phenotypic manifestations of partial 7p trisomy with or without other chromosome involvement are briefly reviewed. Our observations in combination with other cases confirm that 7p trisomy due to dir dup(7p) can be regarded as a defined chromosome syndrome.

Chromosome Aberrations↗
PubMed2006

A randomized comparison between intravaginal misoprostol and prostaglandin E2 for labor induction.

OBJECTIVE: The aim of this randomized study was to compare the effectiveness, safety, and side effects of 6 h vaginal misoprostol versus vaginal prostaglandin E(2) (PGE(2)) for labor induction. STUDY DESIGN: Fifty microgram of misoprostol was given intravaginally in the misoprostol group (204 women), and 3 mg PGE(2) was given intravaginally in the PGE(2) group (211 women). In both groups, the dose was repeated every 6 h for a maximum of three doses, until active labor was achieved. Artificial rupture of membranes and oxytocin infusion was used during labor in both groups where it was indicated. RESULTS: The mean interval from the institution of labor induction to delivery was 11.3 +/- 8.6 h for the misoprostol group, and 15.7 +/- 9.3 h for PGE(2 )group (P < 0.05). In the misoprostol group, oxytocin was used less frequently, but there was a higher prevalence of tachysystole. No statistically significant differences were observed between the two groups as regard abnormal patterns of fetal heart rate, the mode of delivery, and the need for neonatal intervention. CONCLUSION: In conclusion, the intravaginal administration of 50 mug misoprostol at 6 h interval (maximum three doses) is comparable in safety, but more effective for induction of labor than 3 mg intravaginal PGE(2).

Administration, Intravaginal↗
PubMed2006

Increased human placental growth hormone at midtrimester pregnancies may be an index of intrauterine growth retardation related to preeclampsia.

OBJECTIVE: To evaluate the relationship between maternal serum and amniotic fluid levels of human Placental Growth Hormone (hPGH) with the fetal intrauterine growth retardation (IUGR) related to preeclampsia. DESIGN: We analyzed samples in pairs of serum and amniotic fluid retrospectively from 25 women, who manifested preeclampsia and IUGR in the late second or the third trimester of gestation. The samples were obtained at 16-22 weeks' gestation during amniocentesis for fetal karyotyping. At this time, there was no clinical or sonographic evidence of preeclampsia or IUGR, respectively. Sixty-two serum samples were used as controls which were obtained at 16-22 weeks' gestation from women with singleton, uncomplicated pregnancies, with normal outcome, and appropriate for gestational age neonatal birth weight. Forty-seven amniotic fluid samples were also used as controls which were obtained at 16-22 weeks' gestation from the women that were included in the control group who underwent an amniocentesis. hPGH levels were measured by a solid phase immunoradiometric assay. RESULTS: The mean hPGH values in the serum and the amniotic fluid of the IUGR related to preeclampsia affected pregnancies were significantly higher (P<0.05) than those of the normal pregnancies at 16-22 weeks' gestation: mean+/-SD in the serum was 13.16+/-10.52 ng/ml vs. 4.39+/-2.23 ng/ml; mean+/-SD in the amniotic fluid 2.49+/-1.6 ng/ml vs. 0.82+/-0.67 ng/ml. CONCLUSION: hPGH levels in maternal serum and amniotic fluid were found to be higher at 16-22 weeks' gestation in pregnancies that will be complicated subsequently by IUGR related to preeclampsia. Our findings suggest that the evaluation of the changes of hPGH levels at midtrimester should be further investigated for the possibility to provide a potential predictive index of IUGR and preeclampsia.

Amniocentesis↗
PubMed2006

Prenatal diagnosis of hypochondroplasia: report of two cases.

Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are present in a significant proportion of HCH patients. Reports of prenatal diagnosis of HCH are very rare and the phenotype/genotype correlation in these patients is poor. Here we present two sporadic cases with second trimester ultrasound findings consistent with a diagnosis of a non-lethal skeletal dysplasia. Ultrasound evaluation after 23 weeks of gestation showed a decreased rate of development of the femora (femur length <fifth centile), while biparietal diameter, abdominal circumference, and foot length were within normal limits. Femur length/foot and femur length/abdominal circumference ratios were <0.87 and <0.18, respectively. Prenatal cytogenetic and molecular genetic analysis was performed. Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses. Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous for the C1620A mutation resulting in N540K substitution in FGFR3, the most common mutation in HCH. We conclude that the combination of ultrasound and molecular genetic approach is helpful for establishing an accurate diagnosis of HCH in utero and subsequently for appropriate genetic counseling and perinatal management.

Abnormalities, Multiple↗
PubMed2006

A case report of recurrent anencephaly and literature review.

Anencephaly is a rare congenital anomaly in which the forebrain, meninges, vault of the skull, and scalp all fail to form. We report a case of a 32-year-old gravida 2 woman with an anencephalic fetus detected at the 21st gestational week. She had a history of an intrauterine fetal death of an anencephalic fetus at the 20th gestational week two years before. We present the case and briefly review the literature.

Abnormalities, Multiple↗
PubMed2005

Contraception during perimenopause.

Perimenopause marks the transition from normal ovulation to anovulation and ultimately to permanent loss of ovarian function. Fecundity, the average monthly probability of conception, declines by half as early as the mid-forties, however women during the perimenopause still need effective contraception. Issues arising at this period such as menstrual cycle abnormalities, vasomotor instability, the need for osteoporosis and cardiovascular disease prevention, as well as the increased risk of gynecological cancer, should be taken into consideration before the initiation of a specific method of contraception. Various contraceptive options may be offered to perimenopausal women, including oral contraceptives, tubal ligation, intrauterine devices, barrier methods, hormonal injectables and implants. Recently, new methods of contraception have been introduced presenting high efficacy rates and minor side-effects, such as the monthly injectable system, the contraceptive vaginal ring and the transdermal contraceptive system. However, these new methods have to be further tested in perimenopausal women, and more definite data are required to confirm their advantages as effective contraceptive alternatives in this specific age group. The use of the various contraceptive methods during perimenopause holds special benefits and risks that should be carefully balanced, after a thorough consultation and according to each woman's contraceptive needs.

Contraception↗
PubMed2005

The efficacy and tolerability of iron protein succinylate in the treatment of iron-deficiency anemia in pregnancy.

The aim of this study was to evaluate the efficacy and tolerability of iron protein succinylate in the treatment of iron-deficiency anemia in pregnancy. One hundred and thirty anemic pregnant women were studied. Inclusion criteria were iron-deficiency type of anemia, and hemoglobin levels below of 11.5, 10.9 and 10.3 g/dl for the three trimesters of pregnancy, respectively. Twenty-five women who presented pregnancy-related complications were excluded during treatment. The remaining 105 were treated with 1600-mg iron protein succinylate per os daily for a period of four months. A group of anemia-related clinical signs and symptoms, and hematological parameters were recorded at the beginning of treatment, as well as two and four months later. They included epidermis and mucosal paleness, skin and nail lesions, glossitis, heart pulse, sickness, anorexia, apathy, ataxia, polypnea, insomnia, nervousness, paresthesias and other neurological symptoms; the hematological parameters included Hgb, hct, RBCs, WBCs, MCV, MCH, MCHC, PLTs, serum Fe and ferritin. Possible side or adverse effects were considered during treatment. The majority of symptoms and signs of anemia were gradually improved. There was a statistically significant increase in the means of Hgb, hct, WBCs, MCV, MCH, PLTs and serum ferritin (p < 0.05). Anemia was effectively treated in 100/105 (95.2%) women, but not in five patients (4.8%) who displayed poor compliance to the therapeutic protocol. There were transient and mild side-effects in seven (6.6%) treated women, namely diarrhea, epigastralgia, vomiting, and nausea, which however, did not necessitate discontinuation of the therapeutic protocol. Iron protein succinylate is an effective and well tolerated treatment of iron-deficiency anemia in pregnancy.

Adult↗
PubMed2004

Early exploration in perinatal torsion of the spermatic cord: a case report.

Perinatal testicular torsion is a rare condition presenting with signs of an acute scrotum. Review of the literature indicates that there is controversy about optimal management, particularly as regards the risks and the benefits of immediate versus delayed surgical treatment. We report a case that was treated by immediate surgical intervention.

Fibrosis↗
PubMed2001

Microsatellite analysis provides efficient confirmation of fetal trophoblast isolation from maternal circulation.

Fetal trophoblasts can be found in maternal circulation from an early stage of pregnancy and thus provide a potential source of DNA for non-invasive prenatal diagnosis. We have developed a two-step method for trophoblast isolation between the 8th and 12th week of pregnancy. Blood was sampled from 14 women undergoing termination of pregnancy or spontaneous abortion. Immunomagnetic beads precoated with HLA class I and II, and with anti-cytokeratin-18 monoclonal antibodies, were used to remove CD8+ and other maternal cells, and to select for fetal trophoblasts, respectively. Microsatellite analysis was performed on DNA extracted from the isolated, maternal, paternal and placental cells after PCR amplification. Recovery of the trophoblasts was confirmed in 13/14 cases (93%) by the identification of an identical microsatellite pattern for fetal and placental cells. Further evidence was the presence of heterozygous alleles of both maternal and paternal origin. The correct prediction of gender in all five male fetuses was an additional confirmation of trophoblast recovery. We conclude that trophoblasts can be effectively isolated from maternal blood in the first trimester, and by using polymorphic microsatellite markers to confirm sample purity, this method has potential future application in prenatal diagnosis.

Adolescent↗
PubMed2001

Detection of interleukin-6, interleukin-8, and interleukin-11 in plasma from women with spontaneous abortion.

OBJECTIVE: To investigate the role of IL-6, IL-8, and IL-11 in the immune-regulatory mechanisms involved in the spontaneous abortion of the first trimester of pregnancy. STUDY DESIGN: Plasma levels of IL-6, IL-8, and IL-11 were determined in 68 women who had a spontaneous abortion of unknown aetiology during the first trimester of pregnancy. They were compared with the corresponding levels of 73 age-matched pregnant women who had an uneventful pregnancy, and 52 age-matched non-pregnant women. All enrolled women presented without any severe disease, syndrome or recent infection. Cytokine levels were measured by a sensitive sandwich enzyme-linked immunoassay. RESULTS: The women with spontaneous abortion had significantly decreased plasma levels of IL-6, IL-8 and IL-11 compared to those with normal pregnancies (P<0.05). The non-pregnant women had no detectable cytokine levels. CONCLUSIONS: The reduced plasma levels of IL-6, IL-8 and IL-11 in women with spontaneous abortion may be related to the underlying aetiopathogenetic mechanisms, however, there is no sufficient evidence for their use as predictive markers of pregnancy outcome.

Abortion, Spontaneous↗
PubMed2001

Plasma carnitine levels of pregnant adolescents in labor.

STUDY OBJECTIVE: To determine the concentration of plasma carnitine (total, free, and acylcarnitine) during the delivery of uncomplicated pregnancies of adolescent women. To investigate the relationship between maternal and neonatal levels of carnitine and to compare these carnitine levels between pregnant and nonpregnant adolescents. DESIGN: Samples of maternal and umbilical blood were taken at the time of delivery and examined for the determination of the carnitine-total, free, and acylcarnitine-concentration by the use of an enzymatic-radioisotope method. Twenty-two cases of uncomplicated adolescent pregnancies with a normal labor and without perinatal complications were examined. The plasma level of carnitine was also examined in 17 healthy nonpregnant adolescent women, which constituted the control group. RESULTS: The concentrations of plasma carnitine in adolescent pregnancies at the time of delivery were calculated at 19.6 +/- 2.15 microMol/L (total), 12.62 +/- 1.31 microMol/L (free), and 6.98 +/- 1.55 microMol/L (acylcarnitine). The corresponding mean values in umbilical plasma were 30.31 +/- 2.06 microMol/L, 22.39 +/- 1.64 microMol/L, and 7.92 +/-.96 mucroMol/L. There is a statistically significant difference between the mean values in maternal and umbilical plasma (P <.0001 for total and free carnitine and P <.012 for acylcarnitine). The correlations between adolescent pregnant women and their infants as regards total, free, and acylcarnitine were 0.137, 0.018, and 0.33, respectively. Neither of these parameters was statistically significant. The corresponding mean values of carnitine in nonpregnant adolescent women were statistically significantly higher than in adolescent pregnant women (total carnitine: 41.61 +/- 3.09 microMol/L, free: 31.39 +/- 2.81 microMol/L, acylcarnitine: 10.22 +/- 1.88 microMol/L, P <.0001). CONCLUSIONS: The concentration of plasma carnitine at the end of adolescent pregnancy is low compared to the levels of umbilical carnitine at birth and that found in nonpregnant adolescent women. It may not have an obvious impact on the utilization of fatty acids in an uncomplicated full-term pregnancy; however, it suggests the potential risk for neonatal fatty-acid oxidation in a preterm or complicated pregnancy.

Adolescent↗
PubMed2001

Distal limb malformations: underlying mechanisms and clinical associations.

Congenital malformations of the extremities are conspicuous and have been described through the ages. Over the past decade, a wealth of knowledge has been generated regarding the genetic regulation of limb development and the underlying molecular mechanisms. Recent studies have identified several of the signaling molecules, growth factors, and transcriptional regulators involved in the initiation and maintenance of the apical ectodermal ridge (AER) as well as the molecular markers defining the three axes of the developing limb. Studies of abnormal murine phenotypes have uncovered the role played by genes such as p63 and Dactylin in the maintenance of AER activity. These phenotypes resemble human malformations and in this review we describe the underlying mechanisms and clinical associations of split hand/foot malformation and ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, which have both been associated with mutations in the p63 gene.

Animals↗
PubMed2001

Erythropoietin in the treatment of iron deficiency anemia during pregnancy.

The aim of this study was to investigate the efficacy of recombinant human erythropoietin (rHuEPO) combined with parenteral iron, in the treatment of moderate and severe iron deficiency anemia during pregnancy. Twenty-six pregnant women, who had been ineffectively treated with iron supplementation alone for at least 8 weeks, were enrolled. They met the following criteria for inclusion in the study: hemoglobin (Hb) concentration <8.5 g/dl, evidence of iron deficiency anemia, and absence of other pregnancy complications, or severe systemic diseases. The treatment protocol comprised of a combination therapy with 150 IU/kg rHuEPO subcutaneously three times per week and 100 mg parenteral iron daily, for a total period of 4 weeks. Nineteen out of 26 women (73%) showed a quick response, with Hb reaching normal levels within the first 2 weeks of treatment. They displayed an average of 3.17 g/dl increase in Hb concentration during the total period of therapy, with 3.0 g/dl increase within the first 2 weeks. In 5 women (19.2%) there was no significant increase in Hb levels, while in 2 women (7.6%) a further decline in Hb concentration was observed, that necessitated a blood transfusion. In conclusion, rHuEPO combined with parenteral iron is an effective treatment for moderate and severe iron deficiency anemia during pregnancy, with minimal adverse or side effects. It may serve as an alternative to blood transfusion, or in cases of resistant anemia that are not effectively treated by iron supplementation alone. However, further studies are needed to investigate the poor response observed in about 25% of treated patients.

Adult↗
PubMed2001

Genital tuberculosis can present as disseminated ovarian carcinoma with ascites and raised Ca-125: a case report.

In women with an adnexal mass, ascites and elevated Ca-125 levels, ovarian carcinoma must be ruled out. However, several other conditions, including genital tuberculosis, may present similarly. A 41-year-old woman with weight loss, ascites and elevated levels of Ca-125 was evaluated for ovarian cancer. Computerized tomography revealed an adnexal mass, ascites and lymph nodes on the peritoneal surface. Paracentesis of the ascitic fluid revealed a lymphocytic exudate but failed to show any malignant cells. At laparotomy, frozen sections of tissue biopsies were negative for malignancy; however, a total hysterectomy plus adnexectomy was performed. Postoperatively histologic examination revealed typical features of genital tuberculosis. Antituberculosis treatment was effectively given to the patient. Serum levels of Ca-125 were undetectable 12 weeks after treatment. In conclusion, genital tuberculosis can be misdiagnosed and confused with ovarian cancer. Intraperitoneal tuberculosis should be considered in the differential diagnosis in cases in which ovarian cancer is suspected, even when malignancy-associated risk factors are present.

Abdominal Pain↗
PubMed2000

Anemia in pregnancy.

Anemia is one of the most frequent complications related to pregnancy. Normal physiologic changes in pregnancy affect the hemoglobin (Hb), and there is a relative or absolute reduction in Hb concentration. The most common true anemias during pregnancy are iron deficiency anemia (approximately 75%) and folate deficiency megaloblastic anemia, which are more common in women who have inadequate diets and who are not receiving prenatal iron and folate supplements. Severe anemia may have adverse effects on the mother and the fetus. Anemia with hemoglobin levels less than 6 gr/dl is associated with poor pregnancy outcome. Prematurity, spontaneous abortions, low birth weight, and fetal deaths are complications of severe maternal anemia. Nevertheless, a mild to moderate iron deficiency does not appear to cause a significant effect on fetal hemoglobin concentration. An Hb level of 11 gr/dl in the late first trimester and also of 10 gr/dl in the second and third trimesters are suggested as lower limits for Hb concentration. In an iron-deficient state, iron supplementation must be given and follow-up is indicated to diagnose iron-unresponsive anemias.

Anemia↗
PubMed1999

Serum soluble CD23 and TNF-alpha in women with spontaneous abortion in the first trimester.

The present study was designed to investigate the participation of sCD23 and TNF-alpha in pregnant women in the first trimester. One hundred and forty-one patients were enrolled in the study. Women were classified into two groups. Serum sCD23 and TNF-alpha were measured in 73 normal pregnant women in the first trimester (Group I) and in 68 women with spontaneous abortion (Group II). We found that the mean values of TNF-alpha levels were higher in women with normal pregnancy than in women with spontaneous abortion (p < 0.05), whereas sCD23 levels of women in group II did not differ statistically from the controls. These results sustain the opinion that women with spontaneous abortion seem to have reduced TNF-alpha levels. However, determination of these immunological parameters provides no useful clinical information about disease activity and management.

Abortion, Induced↗
PubMed1999

Disposition of pesticides and toxicants in the human reproductive system in cases of acute poisoning.

The aim of this study was to estimate the penetration of some of the pesticides and toxicant substances in the human reproductive system. This knowledge is valuable because of the possible adverse influence of these substances on the human reproduction system and the development of the foetus during pregnancy. The existing data is mainly concerned with the results of experimental studies on animals or epidemiological studies. Here we report data concerning the disposition of several toxic xenobiotics (pesticides and solvents) in the tissues of the human reproductive system as well as in other organs and glands. Data was collected from cases of acute poisonings and derived mostly from autopsy materials. Xenobiotics were found to penetrate sampled tissues such as the testes, ovaries, epididymis, uterus, thyroid gland, as well as other human tissues. Further studies will clarify and confirm peculiarities of the penetration of a wide range of substances in various body tissues and will be the base of the estimation of the role of these toxicants in human reproductive ability and the outcome of pregnancy in humans.

Acute Disease↗