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Biomedical subjects

P Dar

Publications and source records attributed to P Dar.

9 recordsLinked to original sources

Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by mental retardation, obesity, retinal degeneration, polydactyly and syndactyly, diabetes mellitus, hypogenitalism, renal dysplasia and short stature. Definitive molecular diagnosis for BBS is not currently available and counseling of affected families is based on the 25% recurrence risk consistent with autosomal recessive inheritance. Our case presents the first successful use of second trimester targeted sonographic anatomy scanning to prospectively identify a fetus affected with BBS, and indicates that ultrasound can be of critical importance in providing precise as well as timely prenatal diagnosis for families at risk for this serious disorder.

Adult↗

Prenatal ultrasonographic diagnosis of congenital umbilical hernia and associated patent omphalomesenteric duct.

We present an unusual case in whom a small congenital hernia of the umbilical cord and associated patent omphalomesenteric duct were diagnosed at midtrimester ultrasonography. The diagnosis was confirmed following delivery, and neonatal corrective surgery was performed. We compare prenatal ultrasound findings of umbilical hernia and associated persistent omphalomesenteric duct with those of omphalocele.

Adult↗

Reduced reproduction with increased abortion rate in transgenic mice that overexpress 15-lipoxygenase.

15-Lipoxygenase (15-LOX) is a lipid-oxidizing enzyme that is involved in cell cycle regulation. To evaluate the effect of 15-LOX on reproduction, we studied transgenic mice that overexpress 15-LOX. The transgene was introduced over the genetic background of the low density lipoprotein receptor deficient mice (LDL-R(-/-)) and reproduction was compared to LDL-R(-/-) mice. We found a lower pregnancy rate in the 15-LOX/LDL-R(-/-) mice as compared to the LDL-R(-/-) mice (62.74 vs. 79.1%, p < 0.01). Additionally, a remarkably higher number of resorptions per pregnancy was found in the 15-LOX/LDL-R(-/-) mice (16.7 vs. 3.27%, p < 0.001) and it was accompanied by a significantly higher activity of the 15-LOX enzyme in these resorptions as compared to other tissues. These findings may implicate a role for 15-LOX in the development of spontaneous abortions.

Abortion, Spontaneous↗

Clinical and molecular comparison between borderline serous ovarian tumors and advanced serous papillary ovarian carcinomas.

The aim of this study was to characterize the clinical and molecular markers of borderline serous ovarian tumors (BSOT), and to study their expression in the progression from benign lesions to advanced serous papillary ovarian carcinomas (SPOC). The clinical records of 20 patients with BSOT and 22 patients with SPOC were reviewed. Specimens from all these cases and from six benign ovarian serous cystadenomas were evaluated for expression of estrogen receptors (ER), progesterone receptors (PR), p53. HER-2/neu and Ki-67 by immunohistochemical techniques. The mean patient age and the age at menarche differed significantly between the compared groups of BSOT and SPOC (p=0.0006 and p=0.0014, respectively). No difference was observed comparing the other clinical parameters. The immunohistochemical analysis demonstrated a significant increase in the expression of ER (100% vs 72.7%), and a significant decrease in the immunoreactivity for p53 (0% vs 45.4%) and Ki-67 (2% vs 26.8%) in cases of BSOT compared with those of SPOC (p=0.007, p=0.0003 and p=0.012, respectively). No significant difference was demonstrated comparing the expression of PR and HER-2/neu. The immunostaining of benign ovarian serous cystadenoma specimens did not differ significantly from immunoreactivity observed in cases of BSOT. According to immunohistochemical analysis, BSOT had much more in common with benign serous tumors than with SPOC. The main difference between BSOT and SPOC was regarding the overexpression of p53 and Ki-67.

Adult↗

Craniofacial and neck anomalies.

The evaluation of the craniofacial region is a multistep process. First, sonographic skill and expertise are required to ascertain these often subtle abnormalities. Next, precise measurements must be obtained in appropriate and reproducible planes. Finally, a thorough search for other related fetal anomalies is essential. Exciting breakthroughs in our understanding of underlying courses and mechanisms can now guide the practitioner not only in deciding whether or not to pursue invasive testing, but which tests to order, particularly if molecular diagnosis may be required. Complementary advances in ultrasound technology, prenatal diagnosis, and genetic research will have the potential to enhance the accuracy of our counseling, management, and overall care of our patients.

Craniofacial Abnormalities↗

Ovarian function before and after salpingectomy in artificial reproductive technology patients.

To determine the effect of the removal of the tube on ovarian function we studied 52 artificial reproduction technology cycles in 26 women before and after undergoing laparoscopic salpingectomy for ectopic pregnancy. Ovarian response was measured by the duration and quantity of human menopausal gonadotrophins used in the cycle, the pre-ovulatory concentrations of oestradiol, the number of oocytes retrieved, and the quality of the embryos. All parameters were compared between cycles carried out before and after salpingectomy as well as between affected and unaffected sides. Our findings show no significant difference in any of the parameters studied. We conclude that laparoscopic salpingectomy does not abate ovarian response in artificial reproduction technology cycles that follow the procedure.

Adult↗

Clinical and sonographic fetal weight estimates in active labor with ruptured membranes.

OBJECTIVE: To determine and compare the accuracy of clinical and sonographic estimates of fetal weight (EFW) in active labor with ruptured membranes. STUDY DESIGN: Clinical and sonographic EFWs were obtained on 107 term patients in active labor, with cervical dilatation of 4 cm or more and ruptured membranes. Accuracy of birth weight was determined by calculating percentage error, absolute percentage error and ratio of estimates within 10% of actual birth weight for all stages of labor. Statistical analysis was by paired t test, Wilcoxon sign test, chi 2 test and Mann-Whitney U test; P < .05 was considered significant. RESULTS: Absolute percentage errors were lower by the sonographic method at all stages. Except for the second stage of labor, the rates of birth weight +/- 10% were higher with the sonographic method than with the clinical method (83.17% vs. 60.75% and 84.9% vs. 63.44%, respectively). Estimations performed in the first stage were more accurate than in the second stage with both methods (absolute error of 7.82 +/- 5.5 vs. 12.38 +/- 4.9 for clinical and 5.44 +/- 5.99 vs. 9.08 +/- 3.19 for sonographic). CONCLUSION: During active labor with ruptured membranes, sonographic EFWs are more accurate than clinical estimations. The accuracy of both methods is reduced during the second stage of labor.

Adult↗