bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis and confirmation of infantile sialic acid storage disease
Authors: Vamos E. , Libert J. , Elkhazen N. , Jauniaux E. , Hustin J. , Wilkin P. , Baumkötter J. , Mendla K. , Cantz M. , Strecker G. 
Published: March 2007

AbstractAmniocentesis was performed in a pregnancy at risk for infantile sialic acid storage disease. Greatly elevated levels of free sialic acid were found in cell‐free amniotic fluid as well as in cultured amniotic cells from the fetus at risk. After incubation of the cultured amniocytes with fetuin labelled in its sialic acid moiety, pulse and chase experiments respectively showed accumulation and impaired release of TCA‐soluble radioactive material in the amniotic cells at risk. These data thus clearly indicated that the fetus was affected. After pregnancy termination, ultrastructural studies of fetal organs and placenta showed a generalized storage picture characterized by clear membrane‐bound inclusions. The diagnosis was further confirmed by the finding of greatly increased amounts of free sialic acid in fetal organs and cultured fibroblasts.
Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis
Authors: Speer A. , Bollman R. , Michel A. , Neumann R , Bommer Ch. , Hanke R. , Riess O. , Cobet G. , Coutelle Ch. 
Published: March 2007

AbstractSince the isolation of a recombinant containing a cDNA sequence for human phenylalanine hydroxylase (hPH) (Woo et al., 1983; Speer et al., 1986) prenatal diagnosis by linked restriction fragment length polymorphism (RFLPs) has become possible for families in which phenylketonuria (PKU) occurs (Lidsky et al., 1985a). We describe here the application of a Hind III three‐allele RFLP in a single family, which allowed the prenatal diagnosis of an affected fetus.
A study of chromosomal aberrations in amniotic fluid cell cultures
Authors: Wolstenholme J. , Crocker M. , Jonasson J. 
Published: March 2007

AbstractThis paper represents the analysis of 1916 routine amniotic fluid specimens harvested by an in situ fixation technique in a prospective study with regard to cultural chromosome anomalies. Excluding constitutional abnormalities, 2·9 per cent of 19432 cells analysed showed some form of chromosome anomaly, terminal deletions (57 percent) and chromatid/chromosome breaks and gaps (18 per cent) being the most frequent, followed by interchange aberrations (13 per cent) and trisomy (5 per cent). No case was found of more than one colony from the same culture showing the same anomaly without it being present in other cultures from the same fluid. The wholly abnormal colonies had a surplus of trisomies and from the mathematical considerations presented one may infer that these are likely to reflect the presence of abnormal cells in the amniotic fluid. Partly abnormal colonies appeared at a frequency that would correspond to virtual absence of selection against chromosomally abnormal cells when cultured in vitro. The aberrations found were similar to those seen as single cell anomalies, except for chromatid breaks and exchanges. The data suggest a basic preferential induction of trisomy for chromosomes 2,18,21, and the Y‐chromosome. Structural aberrations showed a marked clustering of breakpoints around the centromeres. The frequency of mutant cells was low (1·4 × 10−3) before culture was initiated. At harvest, the frequency of abnormal cells was much higher (3 × 10−2) corresponding to 3 × 10−3 mutations per cell per generation accumulating over approximately ten generations in vitro.
Microcephaly, holoprosencephaly, hypokinesia—second report of a new syndrome
Authors: Hockey Athel , Crowhurst June , Cullity Gary 
Published: March 2007

AbstractTwo still‐born males whose mothers were sisters are presented. The features holoprosence‐phaly, hypokinesia, microcephaly, talipes, and other contractures correspond to those in the two male sibs reported by Morse et al, (1987). We suggest that our cases now provide evidence of an X‐linked rather than an autosomal recessive new syndrome.
Detection of rubella virus in fetal and placental tissues and in the throats of neonates after serologically confirmed rubella in pregnancy
Authors: Cradock‐Watson J. E. , Miller E. , Ridehalgh M. K. S. , Terry G. M. , Ho‐Terry L. 
Published: March 2007

AbstractFrom 35 therapeutic abortions performed because rubella had occurred at 2–19 weeks of pregnancy, 120 fetal organs, 12 specimens of mixed products of conception, and 15 placentae were tested for rubella virus. Virus was isolated from 10 out of 11 fetuses (91 per cent) from women infected at 2–8 weeks, from 5 out of 8 (63 per cent) infected at 9–10 weeks, and from 2 out of 16 (13 per cent) infected at 11–19 weeks. Hybridization tests for viral RNA on 39 fetal organs from eight cases revealed infection in four additional fetuses. Virus was isolated from only 3 out of 15 aborted placentae, but hybridization tests on six placentae revealed infection in three additional specimens. Hybridization was superior to virus isolation for detecting rubella infection in products of conception and is therefore potentially the better method for examining chorionic villus biopsies.Rubella virus was isolated from the throats of 4 out of 9 infants (44 per cent) infected during the first 12 weeks of gestation, but from none of 13 infected after 17 weeks. Infants in the latter group are unlikely to infect susceptible contacts.
Diaphragmatic hernia presenting in utero as a unilateral hydrothorax
Authors: Whittle M. J. , Gilmore D. H. , McNay M. B. , Turner T. L. , Raine P. A. M. 
Published: March 2007

AbstractA right‐sided diaphragmatic hernia presented as a fetal hydrothorax. The fluid‐filled hernial sac enveloped the lung and presumably prevented serious compression effects. The implications of fetal thoracic anomalies are discussed.
Amniotic fluid alpha‐fetoprotein, gamma‐glutamyltranspeptidase, and autosomal trisomies
Authors: Zeitune M. , Aitken D. A. , Graham G. W. , Crossley J. A. , Ferguson‐Smith M. A. 
Published: March 2007

AbstractAlpha‐fetoprotein (AFP) concentration and gamma‐glutamyltranspeptidase (GGT) activity have been analysed in amniotic fluid from a series of 65 pregnancies with autosomal trisomies. AFP values were reduced on average to 60 per cent of normal in cases of trisomy 21, but were not significantly different from normal in cases of trisomies 18 and 13. GGT activities were uniformly lower (44 per cent of normal) for all types of autosomal trisomy. A review of the literature indicates that over 85 per cent of Down's pregnancies but only 39 per cent of trisomy 18 and 13 pregnancies have amniotic fluid AFP levels below the normal median value, while the corresponding figures for GGT are 91 per cent for Down's syndrome and 96 per cent for trisomies 18 and 13.
The value of routine cervical cultures before transcervical chorionic villus sampling
Authors: Kagie M. J. , Petit P. L. Chr. , Kanhai H. H. H. 
Published: March 2007

AbstractIn 226 women requesting chorionic villus sampling (CVS), routine cervical cultures were obtained before the procedure. Transcervical CVS was performed irrespective of the test results. The prevalence of potential pathogens in cervical cultures at our institution is low. Beta haemolytic Streptococcus was cultured in 3 per cent of the women. No pathogenic microorganisms were isolated in 64 per cent of the women. There was no relationship between culture results and the outcome of pregnancy. These observations suggest that adequate antiseptic cleansing of the genital tract is a suitable approach and there is no need to routinely perform cultures before CVS.
An improved method of direct chromosome preparation from chorionic villus and high resolution banding technique
Authors: Xiao Sheng , Liu Quan‐Zhang , Wang Ru‐Bin , Zhang Mao‐Ying , Li Pu 
Published: March 2007

AbstractThe trophoblast was dissociated from the underlying mesenchymal layer either with acetic acid after short‐term prefixation or with mechanical power after fixation twice. The colcemid treatment time was shorted to 16 min and trypsin solution of low pH (6.2) was used for banding. By these steps, the quality of chromosome banding was greatly improved and complete standard chromosome diagnoses were made in 24 of 24 cases.With the modified technique, high resolution banding chromosomes were consistently obtained after short‐term incubation.
Seven cases of trisomy 3 mosaicism in chorionic villi
Authors: Guerneri S. , Fortuna R. , Romitti L. , Bettio D. , Simoni G. 
Published: March 2007

AbstractThis paper describes seven cases of confined chorionic mosaicism with trisomy 3. The chromosomally abnormal cell line in chorionic villi was revealed in three cases at diagnostic CVS and in four cases at the evacuation of the uterine cavity after a missed abortion had been diagnosed by ultrasound. In two of these cases, the abortion occurred after apparently normal development of the fetus during the second trimester of pregnancy. An evaluation of the effect of confined chorionic mosaicism with trisomy 3 on the viability of the conceptus has been attempted.
Community attitudes to cystic fibrosis carrier testing in England: A pilot study
Authors: Williamson R. , Allison M. E. D. , Bentley T. J. , Lim S. M. C. , Watson E. , Chapple J. , Adam S. , Boulton M. 
Published: March 2007

AbstractInexpensive and accurate carrier testing for cystic fibrosis (CF) will be possible in the near future. There are no existing studies on the attitudes of English persons in the community to carrier testing for CF or any other recessive disorder. We have conducted a trial study of 166 persons at two schools, two doctors' surgeries, and a family planning clinic. Only a minority had clear pre‐existing knowledge of cystic fibrosis and its genetic nature. However, over 80 per cent of those questioned expressed interest in knowing their carrier status. Although it is well known that uptake can only be assessed when a service is in place, and while further studies are required to confirm that testing will be of interest to couples of reproductive age with no previous knowledge of CF, the data strongly suggest that there will be interest in communitywide testing for CF carrier status when such a test becomes available in the United Kingdom.
Prenatal diagnosis of a case of tetrasomy 9p
Authors: McDowall A. A. , Blunt S. , Berry A. C. , Fensom A. H. 
Published: March 2007

AbstractA male fetus with tetrasomy 9p [47,XY, + i(9p)] is presented. The cytogenetic interpretation of the marker chromosome was confirmed by assessing the activity of the enzyme galactose I‐phosphate uridyl transferase. The clinical findings of the case show features in common with previously reported cases.
Exclusion of chromosomal mosaicism in amniotic fluid cultures: Efficacy of in situ versus flask techniques
Authors: Cheung Sau W. , Spitznagel Edward , Featherstone Terry , Crane James P. 
Published: March 2007

AbstractAccurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False‐positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male‐female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two‐stage approach used by many laboratories is currently the most efficient way to exclude mosaicism.
Umbilical cord haematoma as a complication of intrauterine intravascular blood transfusion
Authors: Keckstein Georg , Tschurtz Sonja , Schneider Volker , Mütter Wolfgang , Terinde Rainer , Jonatha Wolf‐Dietrich 
Published: March 2007

AbstractBetween October 1985 and February 1989, 49 ultrasound‐guided intravascular fetal blood transfusions were performed in 16 patients (14 with rhesus (Rh) isoimmunization, 2 with non‐immunologic hydrops fetalis (NIHF)).As an intra‐operative complication, perivascular haematoma of the cord occurred in three patients (7 per cent). In two cases, fetal bradycardia necessitated delivery by Caesarean section at 30 and 32 weeks' gestation, respectively. In the third case, fetal bradycardia developed during transfusion, at 31 weeks' gestation, but normalized within 3 min. The baby was delivered as planned at 36 weeks of gestation, after another transfusion at 34 weeks. Dislodgement of the needle tip into perivascular tissue, caused by sudden fetal or maternal movements, is the reason for this complication. The haematoma develops as a result of delayed recognition and continuous transfusion into Wharton' s jelly. Cord haematoma may be diagnosed in time by continuous ultrasound imaging, as illustrated in case 3.To minimize the risk of needle dislodgement during transfusion, sedation of the mother and complete immobilization of the fetus by injecting a short‐acting muscle relaxant into the umbilical vessel are recommended.
Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging
Authors: Persutte Wayne H. , Kurczynski Thaddeus W. , Chaudhuri K. , Lenke Roger R. , Woldenberg Lee , Brinker Ray A. 
Published: March 2007

AbstractA case of fetal autosomal dominant microcephaly was prenatally diagnosed with ultrasonography in a woman with previously undiagnosed microcephaly. At the time of initial ultrasonographic assessment, the mother was identified to have a markedly small cranium, consistent with maternal microcephaly. The ultrasonographic examination showed the fetal head size to be four standard deviations below the mean for gestational age. Gesta‐tional dating from the other biometric parameters and from the last menstrual period was consistent with 31 weeks' gestation. Neurosonographic evaluation of the fetus revealed no obvious structural abnormalities. Serial ultrasonographic examinations at 35 and 38 weeks' gestation showed no changes in the fetal head size. A 2·64 kg male fetus was delivered at term. Neonatal assessment showed the fetal head circumference to be less than the second percentile for gestational age. Neurologic assessment of the neonate with magnetic resonance imaging showed abnormal development of the brain, with small cerebellar and cerebral hemispheres, and pachygyria. These images are compared with the magnetic resonance images of the mother. Our findings of maternal and fetal microcephaly are consistent with autosomal dominant microcephaly. To our knowledge, this is the first report of the prenatal diagnosis of autosomal dominant microcephaly.
Oligohydramnios sequence in a live‐born infant following chorionic villus sampling
Authors: Turnpenny P. D. , Hakim M. M. , Thwaites R. J. , Nash R. M. , Allen H. E. , Zacharian Y. , Chazantchuk T. , Weiner E. 
Published: March 2007

AbstractWe describe an infant born at 29 weeks' gestation with oligohydramnios sequence due to amniotic fluid leakage following chorionic villus sampling at 12 weeks. To our knowledge, this is the first such report.
Discriminant analysis for assessing the value of amniotic fluid microvillar enzymes in the prenatal diagnosis of cystic fibrosis
Authors: Szabó Mária , Münnich Ákos , Teichmann Farkas , Huszka Mariann , Veress Lajos , Papp Zoltán 
Published: March 2007

AbstractWe have analysed the sensitivity, specificity, and reliability of biochemical diagnosis based on microvillar membrane enzyme assay and using discriminant analysis in amniotic fluid samples obtained from 54 pregnancies at high risk for cystic fibrosis and 125 normal pregnancies. Our results show that amniotic fluid trehalase, alkaline phosphatase, alkaline phosphatase isoenzymes and gamma‐glutamyltransferase enzyme activities measured during 16–20 gestational weeks, in spite of their non‐specificity for cystic fibrosis, have a very good predictive value for fetal cystic fibrosis or exclude the possibility of the disease. Overall enzyme activity analysis provided over 90 per cent reliability of the method.
Comparison of N‐Linked Oligosaccharides of Recombinant Human Tissue Kallikrein Produced by Chinese Hamster Ovary Cells on Microcarrier Beads and in Serum‐Free Suspension Culture
Authors: Watson Eric , Shah Bhavana , Leiderman Lisa , Hsu Yueh‐Rong , Karkare Subhash , Lu Hsieng S. , Lin Fu‐Kuen 
Published: March 2007

AbstractGlycosylation heterogeneity in recombinant human tissue kallikrein (r‐HuTK) produced by Chinese hamster ovary (CHO) cells from microcarrier culture and from a serum‐free suspension cell recycle process has been compared. Significant differences in the degree of sialylation were observed in glycoform distribution and oligosaccharide heterogeneity. High‐performance liquid chromatography with a pellicular anion‐exchange column under low pH eluant conditions was used to characterize the number and types of N‐linked complex type oligosaccharides present. The oligosaccharides were released by N‐gly‐canase and, after reduction, were resolved into a number of peaks containing one, two, three, and four sialic acids with an additional subfractionation based on the nature of the antennary structure. The microcarrier process resulted in a reduced amount of sialylated oligosaccharide species as compared to the suspension cell process. Removal of sialic acid followed by chromatography of the asialooligosaccharides under high pH anion‐exchange conditions indicated that the same antennary structures were present but in slightly different relative amounts. The oligosaccharide profiles are indicative of a highly complex array of microheterogeneity present, encompassing mono‐, di‐, tri‐, and tetrasialylated complex type oligosaccharides.
Calcium Signaling in Individual BC3H1 Cells: Speed of Calcium Mobilization and Heterogeneity
Authors: Mahama Patricia A. , Linderman Jennifer J. 
Published: March 2007

AbstractReceptor/ligand binding on a cell surface may activate the calcium signal transduction cascade, resulting in the release of calcium from intracellular stores into the cytosol. Changes in intracellular free calcium, [Ca2+]i, following ligand stimulation have been linked to a variety of cell responses, from muscle contraction to hormone secretion. We have monitored changes in [Ca2+]iin single smooth muscle‐like BC3H1 cells following stimulation by the vasoconstrictor phenylephrine, using the fluorescent calcium probe, fura‐2, in a digital fluorescence imaging system. We find that not all cells respond to ligand stimulation with changes in [Ca2+]i. In addition, cells which respond to ligand stimulation exhibit considerable heterogeneity in the speed of calcium mobilization for a given ligand concentration. Both the population‐averaged speed for calcium mobilization and the fraction of cells which respond to ligand stimulation are increasing functions of the ligand concentration. In contrast, the magnitude of the ligand‐stimulated increase in [Ca2+]ifrom basal to peak levels in responding cells is independent of ligand concentration. We postulate that the heterogeneity seen in the ligand‐induced mobilization of calcium among single cells is a function of distinct differences between cells, such as number of receptors, size of the intracellular calcium store, or phospholipase C activity. We have developed a mathematical model, based on the calcium signal transduction cascade, to predict single‐cell calcium responses to ligand stimulation. We have systematically incorporated cell‐to‐cell parameter heterogeneity into the model by randomly selecting single‐cell parameter values from a Gaussian distribution. Model simulations predict both single‐cell and population‐averaged trends that we have observed experimentally. The results of this work suggest that increases in a population response may be the result of increased participation in the response as opposed to increases in the magnitudes of individual cell responses.
Estimation of Temperature‐Dependent Pore Size in Poly(N‐isopropylacrylamide) Hydrogel Beads
Authors: Park Tae Gwan , Hoffman Allan S. 
Published: March 2007

AbstractThe pore sizes of various temperature‐sensitive hydrogel beads have been estimated at different temperatures by a gel filtration method using several probe molecules of known molecular weight. The hydrogel beads were prepared by inverse suspension copoly‐merizations of a series of N‐isopropylacrylamide (NIPAAm) and acrylamide (AAm) monomers with a small amount of cross‐linker. These hydrogel beads exhibit LCST (lower critical solution temperature) behavior in aqueous solution, that is, expanding and swelling when cooled below the LCST and shrinking and collapsing when heated above the LCST. The pore sizes of these temperature‐sensitive hydrogel beads are affected significantly by both the temperature and the gel composition, but not much by cross‐linker concentration.
Motion of Model Leukocytes near a Wall in Simple Shear Flow
Authors: Tempelman Linda A. , Park Samuel , Hammer Daniel A. 
Published: March 2007

AbstractReceptor‐mediated cell adhesion to surfaces depends on the motion of the cell prior to adhesion. We studied the hydrodynamic behavior of cells near a wall in simple shear flow using a model leukocyte system that we have also used extensively in cell—substrate adhesion studies. Specifically, we measured the velocity of rat basophilic leukemia (RBL) cells near a surface in a parallel‐plate flow chamber and compared it to the motion of polystyrene beads and glutaraldehyde‐fixed RBL cells. We found that RBL cells (13 μm diameter) travel 25% faster than polystyrene beads of 14.5 μm diameter for a wide range of shear rates (20–180 s−1); this suggests that RBL cells would travel 39% faster than polystyrene beads of equivalent size. Glutaraldehyde‐fixed RBL cells travel at a velocity between those of live cells and 14.5‐μm beads. These differences in velocities have been observed over both polyacrylamide gel and glass substrates. Application of a theory for hard sphere motion near a wall in simple shear flow at low Reynolds number [Goldman, A. J.; Cox, R. G.; Brenner, H. Chem. Eng. Sci. 1967b, 22, 653–660] to our measured cell velocities suggests that cells are separated from the wall by ≥550 nm. Such large separation distances have also been predicted by others who have used hard sphere theory to analyze the effect of shear flow on cell motion near walls. However, the extensive receptor‐mediated cell adhesion seen in these systems is inconsistent with these separation distances, which are ∼30 times greater than the distance required for receptor—ligand contact. Instead, we propose that, because of cell deformability and cell surface roughness, cells remain within a separation distance that allows for molecular contact while they travel faster than the hard sphere theory predicts. Therefore, the theory of Goldman and co‐workers, while adequate for hard sphere motion, is likely not accurate for cellular motion.