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Male Fetus (male + fetus)
Selected AbstractsRecombinant expression of an insulin-like peptide 3 (INSL3) precursor and its enzymatic conversion to mature human INSL3FEBS JOURNAL, Issue 18 2009Xiao Luo Insulin-like peptide 3 (INSL3), which is primarily expressed in the Leydig cells of the testes, is a member of the insulin superfamily of peptide hormones. One of its primary functions is to initiate and mediate descent of the testes of the male fetus via interaction with its G protein-coupled receptor, RXFP2. Study of the peptide has relied upon chemical synthesis of the separate A- and B-chains and subsequent chain recombination. To establish an alternative approach to the preparation of human INSL3, we designed and recombinantly expressed a single-chain INSL3 precursor in Escherichia coli cells. The precursor was solubilized from the inclusion body, purified almost to homogeneity by immobilized metal-ion affinity chromatography and refolded efficiently in vitro. The refolded precursor was subsequently converted to mature human INSL3 by sequential endoproteinase Lys-C and carboxypeptidase B treatment. CD spectroscopic analysis and peptide mapping showed that the refolded INSL3 possessed an insulin-like fold with the expected disulfide linkages. Recombinant human INSL3 demonstrated full activity in stimulating cAMP activity in RXFP2-expressing cells. Interestingly, the activity of the single-chain precursor was comparable with that of the mature two-chain INSL3, suggesting that the receptor-binding region within the mid- to C-terminal of B-chain is maintained in an active conformation in the precursor. This study not only provides an efficient approach for mature INSL3 preparation, but also resulted in the acquisition of a useful single-chain template for additional structural and functional studies of the peptide. [source] Fetal gender determination in early first trimester pregnancies of rhesus monkeys (Macaca mulatta) by fluorescent PCR analysis of maternal serumJOURNAL OF MEDICAL PRIMATOLOGY, Issue 6 2003Daniel F. Jimenez Abstract:, Non-human primate fetal gender determination can be a powerful tool for research study design and colony management purposes. The recent discovery of the presence of fetal DNA in maternal serum has offered a new non-invasive approach for identification of fetal gender. We present a rapid and simple method for the sexing of developing rhesus monkeys in the first trimester by polymerase chain reaction (PCR) analysis of maternal serum. Serum samples were obtained from 72 gravid rhesus monkeys during 20,32 days of gestation (term 165 ± 10 days). Fetal gender and the quantity of circulating fetal DNA were determined by real-time PCR analysis of the rhesus Y-chromosomal DNA sequences. The sensitivity for identifying a male fetus was 100% by 30 days gestation, and no false-positive results were observed. This study demonstrates that fetal gender can be reliably determined in the early first trimester from maternal serum samples, a non-invasive method for routine gender screening. [source] Prevalence of steroid sulfatase deficiency in California according to race and ethnicityPRENATAL DIAGNOSIS, Issue 9 2010Wendy Y. Craig Abstract Objective Estimate steroid sulfatase deficiency (STSD) prevalence among California's racial/ethnic groups using data from a previous study focused on prenatal detection of Smith-Lemli-Opitz syndrome (SLOS). SLOS and STSD both have low maternal serum unconjugated estriol (uE3) levels. Methods Prevalence was estimated using three steps: listing clinically identified cases; modeling STSD frequency at three uE3 intervals using diagnostic urine steroid measurements; applying this model to determine frequency in pregnancies not providing urine. Results Overall, 2151 of 777 088 pregnancies (0.28%) were screen positive; 1379 of these were explained and excluded. Fifty-four cases were diagnosed clinically among 707 remaining pregnancies with a male fetus. Urine steroid testing identified 74 additional STSD cases: 66 (89.2%) at uE3 values < 0.15 MoM, 8 (10.8%) at 0.15,0.20 MoM, and 0 (0%) at > 0.20 MoM. Modeling estimated 107.5 STSD cases among 370 pregnancies without urine samples. In males, STSD prevalence was highest among non-Hispanic Whites (1:1230) compared to Hispanics (1:1620) and Asians (1:1790), but differences were not significant. No STSD pregnancies were found among 65 screen positive Black women. Conclusion The overall prevalence estimate of 1:1500 males is consistent with published estimates and is reasonable for counseling, except among Black pregnancies where no reliable estimate could be made. Copyright © 2010 John Wiley & Sons, Ltd. [source] X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ genePRENATAL DIAGNOSIS, Issue 5 2006April N. Brady Abstract Objectives Mutations in the tafazzin (TAZ) gene at chromosomal locus Xq28 are responsible for Barth syndrome (BTHS), X-linked endocardial fibroelastosis (EFE), X-linked fatal infantile dilated cardiomyopathy (CMD3A), and familial isolated noncompaction of left ventricular myocardium (INVM). This evaluation was performed to determine if a known familial TAZ gene mutation might present with abnormal fetal cardiac pathology findings as early as the second trimester of pregnancy. Methods Prenatal diagnosis revealed that a male fetus was positive for a known familial arg94his TAZ gene mutation. An elective termination with subsequent fetal pathology examination was performed at 18 weeks' gestation. Results Fetal examination revealed cardiomegaly, EFE, and subendocardial vacuolization of the myocytes. Conclusion Characteristic cardiac pathology findings of a TAZ gene mutation are seen in a fetus at 18 weeks' gestation. To our knowledge, this case provides the earliest fetal pathologic description of a TAZ cardiomyopathy. Copyright © 2006 John Wiley & Sons, Ltd. [source] Cell-free fetal DNA (SRY locus) concentration in maternal plasma is directly correlated to the time elapsed from the onset of preeclampsia to the collection of bloodPRENATAL DIAGNOSIS, Issue 4 2004Antonio Farina MD Abstract Objective To determine (1) if fetal DNA (fDNA) in the maternal circulation in women affected by preeclampsia correlates with the time elapsed from the onset of symptoms to the time of blood collection, and (2) if the inclusion of this variable improves the discrimination between affected and unaffected patients by using fDNA distributions. Methods Plasma were collected from 34 women at 33.7 ± 3.9 weeks' gestation, affected by preeclampsia, and bearing a single male fetus. fDNA was extracted from 1.5-mL plasma samples, and the SRY and ,-globin gene were analyzed by real-time quantitative PCR. MoMs (multiple of the control median) were calculated by using a log equation of 102 normal cases. Log MoMs were then plotted against the time elapsed from onset of symptoms to blood collection (expressed in days) by means of a log-linear regression. Adjusted MoMs were then calculated. ROC curves were used to test the discrimination obtained by using adjusted MoMs. Results The median MoMs of controls and preeclamptic patients were 1.00 ± 1.53 and 2.62 ± 2.70 respectively. By plotting log MoM fDNA against the time elapsed from onset of symptoms to blood collection, we found a significant positive correlation, (p -value < 0.001, R2 = 0.55, F = 38.97, from 1 to 50 days). The adjusted median fDNA MoM was 2.66 ± 2.50. Areas under the curves, as estimated by ROC curves, were 76.7 for unadjusted and 85.5 for adjusted MoMs respectively (p -value = 0.02). Conclusions The effect of a further covariate showed that (1) fDNA passage from trophoblasts to maternal circulation for unit of time is proportional to the duration of the damage and that (2) increased discrimination can be obtained in comparison to normal subjects. Copyright © 2004 John Wiley & Sons, Ltd. [source] Earliest gestational age for fetal sexing in cell-free maternal plasmaPRENATAL DIAGNOSIS, Issue 13 2003R. J. P. Rijnders Abstract Objectives To evaluate at what gestational age fetal DNA can reliably be detected at the earliest in maternal plasma. Methods We performed consecutive blood sampling in the first trimester of pregnancy in 17 women who were pregnant after in vitro fertilization (IVF) or intrauterine insemination (IUI). DNA was isolated and the Y-chromosome specific SRY was amplified by real-time polymerase chain reaction (PCR). We likewise studied 31 women prior to invasive prenatal diagnosis procedures for test validation purposes. All test results were compared to cytogenetic sex or sex at birth. Results The earliest SRY detection was at a gestational age of 5 weeks and 2 days. In none of 4 pregnancies ending in a miscarriage was SRY detected. We detected SRY in maternal plasma in 1 of 2 patients (50%) carrying a male fetus at a gestational age of 5 weeks, in 4 of 5 (80%) at a gestational age of 7 weeks, in 4 of 4 (100%) at a gestational age of 9 weeks. In all 7 women pregnant with a male fetus, the correct fetal sex was detected by 10 weeks. In none of the 6 patients who delivered a girl was SRY detected. In the validation group, SRY was detected in 13 of the 13 male, and none of the 18 female fetuses. Conclusions We conclude that real-time PCR of the SRY gene promises to be a reliable technique for early fetal sexing in maternal plasma. Copyright © 2003 John Wiley & Sons, Ltd. [source] Cell-free fetal DNA concentration in plasma of patients with abnormal uterine artery Doppler waveform and intrauterine growth restriction,a pilot studyPRENATAL DIAGNOSIS, Issue 5 2003Elisabetta Caramelli Abstract Objective To evaluate if an increased amount of fetal DNA concentration can be found in women screened positive for intrauterine growth restriction because of abnormal uterine artery Doppler waveforms. Methods We enrolled eight pregnant women (each bearing a male fetus), with the evidence of abnormal uterine artery Doppler waveforms, and 16 control patients for a case-control study matched for gestational age (1 : 2). Uterine artery Doppler was carried out at 20 to 35 weeks' gestation (median 29). The mean uterine artery resistance index (RI) was subsequently calculated, and a value >0.6 was considered positive for the clinical features of pre-eclampsia. The SRY locus was used to determine the amount of male fetal DNA in the maternal plasma at the time of Doppler analysis. Results Two controls (normal Doppler) were excluded from the final analysis because they had a pre-term delivery. One case (abnormal Doppler) had evidence of intrauterine growth restriction at the time of enrolment. In four out of eight cases (abnormal Doppler), intrauterine growth restriction was subsequently observed. Multiples of median (MoM) conversion of the fetal DNA values showed an increase of 1.81 times in the cases when compared to the controls. An increase of 2.16 times was instead observed for the cases with a growth-restricted fetus (5 cases out of 8) in comparison with the controls (14 cases). Conclusions In subjects positive to uterine artery Doppler velocimetry analysis (Doppler analysis for pre-eclampsia screening), the fetal DNA concentration is higher than expected, in the absence of any other clinical feature. Since the increase in fetal DNA seems to be related to the presence or to the future development of intrauterine growth restriction, this paper suggests a possible integration between ultrasound and molecular markers for predicting the disease in some cases. Copyright © 2003 John Wiley & Sons, Ltd. [source] Hydrops fetalis in three male fetuses of a female with incontinentia pigmentiPRENATAL DIAGNOSIS, Issue 12 2001Andreas Dufke Abstract Objectives Careful investigation of hydrops fetalis (HF) is important with regard to genetic counselling and prenatal diagnosis. HF is known to be associated with various genetic disorders. To date there has been only one report of a male fetus in whom incontinentia pigmenti (IP) was associated with generalised oedema. We describe a family who had a girl with clinical signs of IP after three consecutive miscarriages of three male fetuses due to HF. Results Molecular genetic analysis showed a mutation in the NEMO/IKK, gene in the girl and the mother, which confirmed the diagnosis of IP in both cases. In the two fetuses that could be investigated, inheritance of the affected maternal X chromosome could be demonstrated retrospectively by linkage analysis. Conclusion The present findings suggest that IP might be an X-linked dominant trait causing HF in male fetuses. In cases of recurrent HF in male fetuses, minimal signs of IP in the maternal line should therefore be carefully investigated in order to be able to perform mutational analysis and to offer appropriate genetic counselling. Copyright © 2001 John Wiley & Sons, Ltd. [source] SHORT COMMUNICATION: Gender Ratio Distortion in Abortuses and Live Births From Patients with Recurrent Spontaneous AbortionAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 3 2009Takashi Kano Problem, Gender ratio of live birth in humans is approximately 1.05 and males are born a slightly more, while gender ratio of fertilization should be 1.00, suggesting that female fetus might be more sensitive to abortion than male fetus during pregnancy. Method of study, We examined karyotype of abortuses from patients with recurrent spontaneous abortion (RSA), who had at least one live birth before or after the treatment of RSA. Results, Chromosomal abnormality was not frequent (14.6%) in the abortuses from the RSA patients. Among abortuses without chromosomal abnormality, male karyotype was rare (9.2%), and this gender ratio distortion was more prominent in RSA cases not carrying autoantibodies (3.5%) than that in the RSA cases carrying autoantibodies (26.3%), with statistical significance (P = 0.009). Conclusion, These observations suggested that the aborted fetuses from RSA of unknown etiology, i.e. no chromosomal abnormality and no autoantibody, were preferentially female. [source] Maternal and neonatal outcomes of pregnancies complicated by asthma in an Australian populationAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 6 2009Vicki L. CLIFTON Objective:, To determine if there are sex differences in risk and incidence of stillbirth, preterm delivery and small-for-gestational age (SGA) in pregnancies complicated by maternal asthma relative to a non-asthmatic population. Study design:, Univariant and multiple regression analysis of the incidence of preterm delivery, SGA and stillbirth in singleton pregnancies complicated by asthma in Newcastle, NSW, Australia, from 1995 to 1999. Results:, Asthma complicated 12% of all singleton pregnancies. The incidence of preterm delivery was not significantly different between asthmatic (13%) and non-asthmatic (11%) pregnancies. Male fetuses (53%) were more likely to deliver preterm than female fetuses (47%) in both asthmatic and non-asthmatic populations. There were significantly more male neonates of pregnancies complicated by asthma that were SGA at term relative to those of the non-asthmatic population. There were significantly more preterm female neonates that were SGA in pregnancies complicated by asthma relative to those of the non-asthmatic population. Male fetuses were more likely to be associated with a stillbirth in pregnancies complicated by asthma than female fetuses. Conclusion:, The presence of maternal asthma during pregnancy increases the risk of stillbirth for the male fetus and is associated with changes in fetal growth, but does not increase the incidence of a preterm delivery. [source] Successful pregnancy outcome following first trimester pelvic inflammatory diseaseAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 2 2000Michael L Stitely Summary: Pelvic inflammatory disease rarely complicates pregnancy. Although few in number, most of the previously reported cases have resulted in spontaneous abortion or intrauterine fetal demise. At 5 weeks gestation, a 20 year old gravida 2 para 1 underwent uterine curettage and diagnostic laparoscopy for a suspected ectopic gestation. Seventeen days later, she presented with severe bilateral lower abdominal pain, cervical motion tenderness, uterine tenderness, and bilateral adnexal tenderness. After 84 hours of intravenous cefazolin, gentamycin, and clindamycin, the patient had resolution of all symptoms. She then completed 14 days of outpatient antibiotic therapy with oral cephalexin. At 39 weeks gestation, she delivered a 3611 g male fetus via spontaneous vaginal delivery. Successful pregnancy outcome can occur after first trimester pelvic inflammatory disease. [source] | ||||||||||