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Biomedical subjects

A Borrell

Publications and source records attributed to A Borrell.

At least 55 records · Page 3Linked to original sources
PubMed1996

Evaluation of toxicity and sex-related variation of PCB levels in Mediterranean striped dolphins affected by an epizootic.

Individual PCB congener concentrations, including non-ortho chloro substituted, were determined in 30 striped dolphins (Stenella coeruleoalba) affected by the 1990-92 Mediterranean epizootic to investigate their toxic potential. PCB congener concentrations in these dolphins were among the highest ever found in comparable studies on marine mammals. Concentrations in males and females were significantly different because of pollutant transfer to offspring by females. Thus, PCB concentrations and 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) toxic equivalents (TEQ) in males were approximately double those in females. Non-ortho, mono-ortho and di-ortho coplanar congeners accounted for approximately one third of the overall toxicity assessed through toxic equivalent factors (TEFs), as defined by Ahlborg et al. (1994). Di-ortho congener 170 and non-ortho congener 126 were the major contributors to TEQ (33% and 30% respectively).

Adipose Tissue↗
PubMed1996

Early midtrimester fetal nuchal thickness: effectiveness as a marker of Down syndrome.

OBJECTIVE: Our purpose was to assess the validity of nuchal thickness in the prediction of Down syndrome in early midtrimester fetuses. STUDY DESIGN: In 1543 consecutive pregnancies undergoing amniocentesis, primarily for advanced maternal age, nuchal thickness was prospectively measured between 13 and 18 weeks and then correlated with the karyotype obtained from amniotic fluid. RESULTS: With the cutoff value suggested in the literature (> or = 6 mm), 33.3% (6/18) of the cases of Down syndrome would be detected for a 0.1% (2/1424) false-positive rate, with a positive predictive value adjusted to a prevalence of Down syndrome in the general population of 1:3. To increase the sensitivity of the method, the threshold was lowered to 5 mm, achieving a sensitivity of 77.8% (14/18) for a 2.1% (30/1424) false-positive rate and an adjusted positive value of 1:19. CONCLUSIONS: In early midtrimester fetuses decreasing the nuchal thickness threshold to 5 mm substantially enhances the detection of Down syndrome with a reasonable false-positive rate.

Down Syndrome↗
PubMed1996

Transcervical chorionic villus sampling beyond 12 weeks of gestation.

The aim of this study was to evaluate the feasibility of transcervical chorionic villus sampling (CVS) after 12 completed weeks of pregnancy. The transcervical route for CVS, using thin biopsy forceps, was accomplished in 335 procedures in the study group, between 12 + 1 and 15 + 0 weeks. Cases were subdivided into two subgroups, the late (13 + 0 to 15 + 0 weeks) and intermediate (12 + 1 and 12 + 6 weeks) subgroups, and the results were compared with a previous series of 1202 early (8 + 0-12 + 0 weeks) transcervical CVS. A successful diagnosis was made in 97.3% of the cases. No differences were found in diagnostic success between the study subgroups, in comparison to the early transcervical CVS series. However, success rates in the study group increased from 90% in the first 60 procedures to 98.9% in the remaining cases (p < 0.001). Amniocentesis was eventually performed in nine cases (2.7%). All cases were rescanned 2 weeks after the procedure, and fetal demise was detected in five cases (1.5%). The spontaneous fetal loss rate up to 28 weeks was 3.1% (2.7% for intermediate and 4.0% for late subgroups). No cases of transverse limb reduction defects were observed. The results of our study suggest that the transcervical route for CVS beyond the 12th week of pregnancy has a satisfactory diagnostic success rate, and an acceptable pregnancy loss rate.

Adult↗
PubMed1996

Reversed end-diastolic umbilical artery velocity in two cases of trisomy 18 at 10 weeks' gestation.

Doppler velocimetry of the umbilical artery was carried out during routine ultrasound examinations performed immediately before either chorionic villus sampling (n = 383) or genetic amniocentesis (n = 649) in 1032 women referred for prenatal diagnosis at our institution, between 10 and 18 weeks of gestation. Reversed end-diastolic flow was detected in only two cases (0.19%), both of which were affected by trisomy 18. The diagnosis was made at 10 weeks' gestation and, to our knowledge, these are the earliest records of this pathological Doppler pattern. Although a possible relationship with early abnormal placentation remains to be established, the finding of reversed end-diastolic velocities in the umbilical artery in the first trimester of pregnancy may be an early sign of karyotype abnormality.

Adult↗
PubMed1996

Umbilical artery pulsatility index in early pregnancies with chromosome anomalies.

OBJECTIVE: The aim of our study was to obtain measurements of the umbilical artery pulsatility index in pregnancies before invasive procedures for prenatal diagnosis, to investigate its potential prognostic value in predicting chromosomal abnormalities. DESIGN: A prospective study. PARTICIPANTS: Nine hundred and twenty-four consecutive women with singleton pregnancies between 10 and 18 weeks of gestation who underwent chorionic villus sampling (n = 385) or genetic amniocentesis (n = 539). All Doppler measurements were obtained by a single investigator before the invasive procedure. Pregnancies where structural malformations were detected by ultrasound were excluded. RESULTS: Twenty-six fetuses with chromosomal anomaly, including 12 with trisomy 21, were diagnosed. Using the 90th centile in umbilical artery pulsatility index values as a cut-off for trisomy 21 the detection rate was 66.6%, with a specificity of 90.4% and a positive predictive value (defined as the proportion of unaffected individuals with positive results, l-specificity) of 8.8%. However, with this cut-off the false positive rate was 9.6%. All 19 chromosomally normal pregnancies in which a fetal loss occurred after the procedure had a normal umbilical artery pulsatility index before it was carried out. CONCLUSIONS: These preliminary data suggest that trisomic fetuses have an abnormally increased umbilical artery pulsatility index in early pregnancy. Because the number of cases is too small to draw any firm conclusions, the use of a single measurement for screening purposes needs to be confirmed by further investigation and the clinical significance of reference curves of normal values in the detection of pathological conditions has still to be determined. The potential of umbilical artery pulsatility index as an additional parameter along with others previously established for Down's syndrome screening, such as nuchal oedema, needs to be explored further.

Abortion, Induced↗
PubMed1995

Rapid fetal karyotype from cystic hygroma and pleural effusions.

Fluid from pleural effusion (n = 2) and cystic hygroma (n = 7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was > or = 4 ml and the initial lymphocyte count (ILC) was > 0.2 x 10(6) cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes (ICCL) of > 0.06 x 10(6) cells/ml.

Body Fluids↗
PubMed1995

Chorionic villus sampling by biopsy forceps. Results of 1580 procedures from a single centre.

The results of a prospective series of 1580 chorionic villus sampling (CVS) procedures using biopsy forceps are presented. Most of the procedures (1442), including 11 sets of twins, were performed by the transcervical approach (TC-CVS), using a curved-shank thin forceps, and 138 by the transabdominal approach (TA-CVS), using a trocar-guided straight thin forceps. The mean gestational age for TC-CVS was 10.9 weeks, and in 233 cases (16 per cent) the procedure was carried out between the 12th and 14th weeks. The mean gestational age for TA-CVS was 16.7 weeks. The major indication for CVS was advanced maternal age (92.7 per cent in the TC and 91.8 per cent in the TA approach), and indications for abnormal ultrasound findings were more common in the TA approach (4.5 per cent) than in TC-CVS (0.07 per cent). Although sampling was apparently accomplished in all the procedures, in 3.1 per cent of the TC-CVS and 2.2 per cent of TA-CVS procedures, the samples were less than 1 mg after dissection. A cytogenic report was obtained in 96.1 per cent of the TC-CVS and 90.6 per cent of the TA-CVS. Maternal serum alpha-fetoprotein (MSAFP) was measured before and after TC-CVS and the post-CVS MSAFP was positively correlated with the sample weight. Second-trimester amniocentesis following CVS was required in 5.2 per cent (TC-CVS) and 6.5 per cent (TA-CVS), due to the failure to obtain a cytogenetic report or diagnostic confirmation. The follow-up to the 20th week was 100 per cent by ultrasound scan, and 88.6 per cent from the 21st week to 1 week after delivery. Fetal loss rates within 2 weeks of the procedure were 1.7 per cent (TC-CVS) and 0.8 per cent (TA-CVS) and total fetal loss accumulated to 1 week after delivery was 4.6 per cent (TC-CVS) and 5.9 per cent (TA-CVS). Factors found to increase significantly fetal loss in the TC-CVS series were maternal age and the collection of very small samples, but not the number of forceps insertions.

Adult↗
PubMed1995

Age trends and reproductive transfer of organochlorine compounds in long-finned pilot whales from the Faroe Islands.

Total DDT and PCB concentrations were determined in blubber of 130 long-finned pilot whales, Globicephala melas (100 females and 30 males) from the Faroe Islands (northern north-east Atlantic). In males and immature females no relation was observed between age and organochlorine concentrations or the ratio of tDDT (total DDT)/PCB; in contrast, concentrations and ratios in mature females declined with age, which is attributed to reproductive transfer to their offspring during gestation and lactation. Relative abundance of DDE respective to tDDT increased in males and young females and decreased in mature females. Organochlorine transfer to offspring during lactation was found to represent about 60-100% of the mother's body load, while that occurring during gestation was estimated to be much lower, in the range 4-10% of mother's body load. Transfer rates tended to decrease with mother's age and were, consequently, much higher in primiparous females than in those that had already given birth. Transplacental rates were found to be consistent with the ratio between mother's body weight and neonatal body weight.

Journal Article↗
PubMed1995

Biochemical and Doppler predictors of poor perinatal outcome in a fetus with four umbilical vessels.

Unexpected elevation of maternal serum alpha-fetoprotein (MSAFP) in women with anti-phospholipid syndrome has already been described as a predictor of fetal death. In this report we present a case of a pregnant woman with elevated second trimester MSAFP, in which Doppler ultrasound at 28 weeks suggested very poor fetal prognosis. A cesarean section was performed, but 2 days later the infant died due to distress. The only remarkable feature at post-mortem study was the finding of four vessels in the umbilical cord. Conventional investigation of the mother led us to the diagnosis of a primary anti-phospholipid syndrome. The finding of such an association should alert clinicians to the increased risk of fetal death. Precocious Doppler ultrasound examination may be the elective non-invasive technique to monitor such high risk fetuses.

Adult↗
PubMed1995

First-trimester nuchal edema as a marker of aneuploidy.

Targeted ultrasonographic screening for nuchal fluid accumulation during the first trimester (9-13 weeks) seems to be a recommendable method for the detection of Down's syndrome and other chromosomal anomalies in pregnant women. It compares favorably with current methods of maternal serum screening performed during the second trimester. Using a 4-mm cut-off value, the detection rate of aneuploidy among our population was found to be 57.1%, with a false-positive rate of 0.7% and a positive predictive value of 72.7%. Chromosomal analysis should be considered for fetuses with nuchal translucency equal to or greater than 4 mm in the first trimester.

Adolescent↗
PubMed1995

The influence of the site of Doppler recording on umbilical artery pulsatility index during the first trimester.

The aim of our study was to determine the pulsatility index (PI) of the umbilical artery velocity waveform obtained from the fetal insertion, the placental insertion and a free floating loop of the umbilical cord. This was a prospective study involving 60 consecutive singleton pregnancies undergoing ultrasound examination between 10 and 13 weeks' gestation. Doppler measurements were obtained transvaginally from the placental and the fetal abdominal insertion, and from a free floating loop of umbilical cord. Chromosomal abnormalities and structural malformations detected by ultrasound were excluded. A multi-way analysis of variance did not show significant differences between the measurements of umbilical PI at the different sites of the umbilical cord and Pearson's coefficient showed an excellent correlation between them. No significant intra- and interobserver differences were found. In conclusion, measurements of Doppler velocimetric indices of the umbilical artery during the first trimester are not influenced by the recording site and these recordings are reproducible at this stage of gestation.

Adult↗
PubMed1994

Abnormally high polychlorinated biphenyl levels in striped dolphins (Stenella coeruleoalba) affected by the 1990-1992 Mediterranean epizootic.

PCB concentrations and total lipid content were determined in the blubber and liver of striped dolphins affected by the 1990 morbillivirus epizootic in the Mediterranean Sea, and in the blubber of striped dolphins from the same area sampled with a biopsy dart in 1987-1989 and 1991. PCB levels were found to be significantly higher in the individuals that succumbed to the epizootic than in the 'healthy' population sampled before or after the event. Although recent mobilization of lipid reserves was found to have occurred in some of the diseased dolphins, this had little effect on their PCB blubber concentrations and cannot explain the observed difference with the healthy individuals. Three hypotheses are put forward to explain the apparent link between high PCB levels and mortality caused by the epizootic: (i) depressed immunocompetence caused by PCBs leading to an increase in individual susceptibility to the morbillivirus infection, (ii) mobilization of fat reserves leading to increased PCB levels in blood which, in turn, may produce a liver lesion capable of increasing the individual's susceptibility to the morbillivirus infection, and (iii) previous existence of an unspecific hepatic lesion producing impairment of the liver function which, in turn, could lead to an increase both in tissue PCB concentrations and in individual susceptibility to the morbillivirus infection.

Adipose Tissue↗
PubMed1994

Body stalk anomaly associated with maternal cocaine abuse.

A case of body stalk anomaly diagnosed prenatally by ultrasound during the 24th week of pregnancy in a cocaine abusing mother is presented. Accurate visualization of the fetal organs was difficult due to the severe oligohydramnios caused by premature rupture of membranes, probably related to the cocaine use. The sonographic findings were an omphalocoele, fetal attachment to the placenta, kyphoscoliosis, and absence of a floating umbilical cord. The prenatal diagnosis of the syndrome and the possible relationship with cocaine abuse are discussed.

Abdominal Muscles↗
PubMed1994

Reproductive transfer and variation of body load of organochlorine pollutants with age in fin whales (Balaenoptera physalus).

The body load of tDDT (p,p'DDT + o,p'DDT + p,p'DDE + p,p'TDE) and polychlorinated biphenyls (sum of congeners) was estimated for 169 fin whales to study age and sex-related variation and to calculate the quantity of these compounds transferred to offspring through reproduction. Blubber was the body compartment containing the greatest quantities of organochlorines, but its relative contribution to total load was lower than in other cetaceans because in fin whales muscle and bone are also significant lipid reserve sites. In male fin whales, organochlorine body loads increased with age but tended to reach a plateau in fully grown individuals. In adult females, loads decreased with age because of transfer to offspring cancelling the rise in loads associated with body growth; as a consequence, the amount of organochlorines transferred during a reproductive cycle also declined with age. This transfer is lower than that found for other cetaceans because fin whales have a shorter lactation period. According to the calculations, the first offspring of a female fin whale receives about 1 g of PCB and about 1.5 g of tDDT. These amounts will progressively decrease in subsequent reproductive cycles to reach a minimum of 0.2 g PCB and 0.3 g tDDT in an old female. Therefore, the first calf delivered is the one most likely to be affected by pollutants.

Age Factors↗
PubMed1993

Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: prenatal diagnosis in chorionic villi and amniotic fluid.

The prenatal diagnosis of an 11q;22q translocation in a triplet pregnancy detected at the time of chorionic villus sampling (CVS) because of advanced maternal age is reported. Karyotypes obtained from two apparently different CV samples showed the balanced form of translocation, while the one obtained from a third empty sac showed the unbalanced form: 46,XX,-22,+der(22)t(11;22). Second-trimester amniocentesis confirmed the balanced translocation in one of the two viable fetuses and a normal karyotype in the other. The detected karyotypes derived from two different types of meiotic segregation, alternate and adjacent 1. To our knowledge, this is the first reported case of an unbalanced karyotype not due to a 3:1 meiotic segregation of this specific translocation.

Adult↗
PubMed1993

Isomer-specific analysis and toxic evaluation of polychlorinated biphenyls in striped dolphins affected by an epizootic in the western Mediterranean sea.

Isomer-specific concentrations of polychlorinated biphenyls (PCBs) including planar, mono- and di-ortho congeners and concentrations of DDT were determined in striped dolphins affected by a morbillivirus epizootic in the western Mediterranean in 1990. Extremely high concentrations of PCBs ranging from 94 to 670 micrograms/g (wet wt) were detected in the blubber. Similarly, DDT concentrations were high, between 22 and 230 micrograms/g (wet wt). The concentrations of three non-ortho coplanar PCBs were 43 (3,3',4,4'-T4CB), 6.8 (3,3',4,4',5-P5CB), and 7.8 (3,3',4,4',5,5'-H6CB) ng/g (wet wt), respectively, the highest residue levels reported to date. The estimated 2,3,7,8-TCDD toxic equivalents of non-, mono- and di-ortho PCB congeners in striped dolphins were several times higher than those observed for other marine mammals and humans. Mono-ortho congeners contributed greater 2,3,7,8-TCDD toxic equivalents than non-ortho members. The higher ratio of 3,3',4,4',5,5'-H6CB/3,3',4,4',5-P5CB (IUPAC 169/126) suggested a strong induction of mixed function oxidase enzymes and highlighted the possibility of using this ratio as an index for risk assessment of PCB contamination in marine mammals. Elevated concentrations of PCBs may have played a role in the immune depression in striped dolphins, ultimately leading to the development of morbillivirus disease.

Adipose Tissue↗
PubMed1993

[Therapeutic approach in a fetus with posterior urethral valves].

A pregnant woman was diagnosed with fetal uropathy at 18 weeks gestation. A thorough examination revealed bilateral hydronephrosis, megacystis with bladder neck and posterior urethral dilatation, normohydramnios, normal echocardiography and normal male karyotype. From the 20th week on she developed a progressive oligohydramnios, and the left kidney became hyperechogenic. Fetal urine analysis at week 21 showed hypotonic urine in both renal pelvises, and a beta 2 microglobulin of 8.5 mg/l. on the right side and 18 mg/l. on the left one, suggesting some degree of function on the right kidney. A vesico-amniotic shunt was placed at week 22, which was ineffective, and another shunt was placed two weeks later. Twenty-four hours later the bladder size decreased, but amniotic fluid did not increase and a great amount of ascitis developed, which was attributed to catheter migration. On week 25, the abdomen was decompressed through a peritoneal-amniotic shunt. Ascitis decreased thereafter, but oligohydramnios remained unchanged. The patient died 20 hours after a cesarean section was performed at the 31st week. The necropsy diagnoses were: posterior urethral valves, bilateral renal dysplasia and pulmonary hypoplasia. This case illustrates the difficulty in establishing a prognosis based on the prenatal data available at present.

Adult↗