bluuebunny/crossref_metadata_2025_split huggingface dataset:
Safety of fetal blood sampling by cordocentesis in fetuses with single umbilical arteries
Authors: Abdel‐Fattah Sherif A. , Bartha Jose L. , Kyle Phillipa M. , Denbow Mark L. , Soothill Peter W. 
Published: August 2004

AbstractObjectivesTo examine the safety of cordocentesis in fetuses with single umbilical arteries.MethodsRetrospective analysis of all cases of cordocenteses in fetuses with single umbilical arteries over a five‐year period at one centre. We analysed the records for pregnancy details, outcomes, and procedure‐related complications, and compared these to similar data for cordocenteses procedures performed, during the same period, for similar indications in fetuses with three‐vessel cords.ResultsTwenty‐nine eligible cases were identified. All procedures were performed for the indication of fetal structural abnormalities, and seven fetuses (24%) had abnormal karyotypes. The median gestational age at the time of the procedure was 21 weeks (range 19–34 weeks). There were no procedure‐related fetal losses but the umbilical artery was inadvertently punctured in one case, resulting in prolonged bradycardia with spontaneous recovery. These outcomes compare favourably to those of a total of 134 cordocenteses procedures in fetuses with three‐vessel cords.ConclusionCordocentesis in cases with single umbilical arteries does not appear to carry more risk than in cases with three‐vessel cord, and should continue to be performed by adequately trained specialists when indicated. Extra care should be undertaken to avoid puncturing the umbilical artery. Copyright © 2004 John Wiley & Sons, Ltd.
The relationship between maternal serum alpha‐fetoprotein and maternal haemoglobin
Authors: Bartha Jose L. , Omar Kiria M. , Soothill Peter W. 
Published: August 2004

AbstractObjectivesTo test the hypothesis that both second‐trimester maternal serum alpha‐fetoprotein (MSAFP) levels and Down syndrome–screening test are related to maternal haemoglobin concentration.MethodsThree hundred and seventeen women in three groups according to their haemoglobin levels: normal haemoglobin concentration (between 10.5 and 13.2 g/dL) (n = 262; 82.6%), anaemia (less than 10.5 g/dL) (n = 11; 3.5%), or high haemoglobin levels (greater than 13.2 g/dL) (n = 44; 13.9%) were studied. MSAFP and Down syndrome risk (on the bases of maternal age, MSAFP and maternal serum β‐hCG concentrations) were recorded.ResultsMSAFP (MoM) was lower in women with high haemoglobin levels (0.79 MoM (0.66–1.14)) (p = 0.001) than in women with normal haemoglobin concentrations (1.00 MoM (0.81–1.26)). It was also decreased in women with anaemia (0.90 MoM (0.65–0.94)), even though the difference with women with normal haemoglobin levels was of borderline statistical significance (p = 0.06). The Down syndrome risk was higher in both anaemic women (1:850 (1:380–1:1400)) (p = 0.009) and women with high haemoglobin levels (1:1425 (1:460–1:3100)) (p = 0.036) than in women with normal haemoglobin concentration (1:1950 (1:800–1:5000)). A quadratic model was the best predictive model for both MSAFP (p = 0.02) and Down syndrome risk (p = 0.001) when considering maternal haemoglobin as the independent variable.ConclusionsMSAFP is decreased and Down syndrome risk is increased in both anaemic and pregnant women with high haemoglobin concentration. Further studies are needed to establish whether adjustments for maternal haemoglobin are needed when giving Down syndrome risks based on biochemical markers. Copyright © 2004 John Wiley & Sons, Ltd.
Duplication of 9 p11.2‐p13.1: a benign cytogenetic variant
Authors: Di Giacomo Marilena C. , Cesarano Carla , Bukvic Nenad , Manisali Evangelia , Guanti Ginevra , Susca Francesco 
Published: August 2004

AbstractThe detection of very rare variants in prenatal diagnosis often causes counseling difficulties and anxiety in parents.We describe a duplication of the proximal region of chromosome 9 short arm in two cases of prenatal diagnosis and in one young woman, with evidence that such rearrangement is an uncommon variant. The duplication was investigated using Fluorescence in situ hybridization (FISH). Although the cytogenetic findings were indicative of a ‘duplication 9p syndrome’ associated with mental and developmental retardation, we were able to demonstrate that the rearrangement was a heteromorphism with no phenotypic consequence. We also determined the breakpoint regions of the rearrangement and identified the BAC probes that precisely define the duplicated region devoid of risk of phenotypic effects. Copyright © 2004 John Wiley & Sons, Ltd.
Prenatal diagnosis of tetrasomy 9p with Dandy–Walker malformation
Authors: Hengstschläger Markus , Bettelheim Dieter , Drahonsky Regina , Repa Christa , Deutinger Josef , Bernaschek Gerhard 
Published: August 2004

AbstractObjectivesTo add to the knowledge of chromosomal abnormalities associated with Dandy–Walker malformation.MethodsMolecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy–Walker malformation and abnormal somatic development.ResultsAll cells examined showed a 47, XY, +idic(9p)(pter→q12::q12→pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy–Walker malformationConclusionsThis case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy–Walker malformation is detected via prenatal ultrasonography. Copyright © 2004 John Wiley & Sons, Ltd.
Sonography in prenatal diagnosis of congenital adrenal hyperplasia
Authors: Saada Julien , Grebille Anne‐Gaëlle , Aubry Marie‐Cécile , Rafii Arash , Dumez Yves , Benachi Alexandra 
Published: August 2004

AbstractCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with an incidence of 1/15 000. More than 90% of CAH cases result from mutations of CYP21, leading to 21‐hydroxylase deficiency. In its classical form, CAH is severe and consists of the virilizing (increase of androgens) and salt‐wasting (lack of aldosterone) phenotype. When a proband exists, early prenatal diagnosis for CAH can be performed by direct molecular analysis in the first trimester. We describe herein two cases suggesting that the prenatal diagnosis of CAH can be initiated by the sonographic appearance of the adrenal gland at the second‐trimester scan in the absence of a family history. Copyright © 2004 John Wiley & Sons, Ltd.
First‐trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness
Authors: Coviello Domenico A. , Brambati Bruno , Tului Lucia , Percesepe Antonio , Sironi Francesca , Sahai Achal , Bertorelli Roberto , Forabosco Antonino 
Published: August 2004

AbstractObjectiveThis study evaluates the prevalence of 35delG GJB2 mutation, the most common genetic mutation causing prelingual deafness, and its screening feasibility and acceptability in pregnant women undergoing first‐trimester CVS for chromosomal abnormality investigation.MethodsSamples were taken from 5786 pregnant women who requested CVS for chromosomal analysis. The samples were split into two aliquots for chromosome and DNA analysis, respectively. The results of foetal karyotyping were provided 7 days after sampling, at which time the fully informed couple decided whether or not to undergo DNA testing.ResultsOf the 5449 eligible candidates, 2997 (55.0%) chose to undergo 35delG testing. Among them, 67 proved to be carriers of the mutation, resulting in a prevalence rate of 1:44.7 (2.23%). There were no homozygous foetuses, but two double heterozygous foetuses were found, and in one case the couple chose to terminate the pregnancy.ConclusionsThe results confirm the high frequency of 35delG mutation in the Italian population. The study shows that prenatal screening for GJB2 mutations in pregnant women with no retrospective risk for deafness appears to be feasible and highly acceptable. Consequently, given evidence that early evaluation and treatment significantly improve speech and language skills, as well as social and emotional well‐being in affected children, 35delG mutation analysis in pregnant women booking CVS primarily for chromosomal investigation could be considered a useful addition to more comprehensive population screening strategies. Copyright © 2004 John Wiley & Sons, Ltd.
A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidum
Authors: Delcán José , Orera María , Linares Rafael , Saavedra Dolores , Palomar Angustias 
Published: August 2004

AbstractWe report a 16‐week‐gestation foetus obtained by voluntary abortion after prenatal diagnosis, in which a ring chromosome 22 was observed with deletion of the 22q13.3 region. A prenatal study of the amniotic fluid by standard chromosome technique with G bands and FISH (fluorescence in situ hybridisation) was performed. After the abortion, the anatomopathological study of the obtained foetus was carried out. Morphological and histological analysis of the foetus did not reveal severe physical abnormalities, although alterations of the nervous system were observed consisting of corpus callosum, fornix and septum pellucidum agenesia. It could be that the genes in this region that were involved in the development of the central nervous system were responsible for the alterations found in the morphological study. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region. Copyright © 2004 John Wiley & Sons, Ltd.
Increased rate of aneuploid embryos in young women with previous aneuploid conceptions
Authors: Munné Santiago , Sandalinas Mireia , Magli Cristina , Gianaroli Luca , Cohen Jacques , Warburton Dorothy 
Published: August 2004

AbstractObjectivesTo determine whether a history of a previous aneuploid conception increases the rate of aneuploidy among women having preimplantation diagnosis (PGD).MethodsPreimplantation embryos were tested for aneuploidy using FISH probes specific for chromosomes 13,15,16,17,18,21,22,X and Y.Using logistic regression to control for maternal age, we compared the rates of aneuploidy and other chromosome errors in 344 embryos from women having PGD because of a history of a previous aneuploid conception, 363 embryos from 42 women having PGD because of X‐linked disorders and 1158 embryos from 135 women having PGD because of repeated in vitro fertilization failure.ResultsThe frequency of aneuploidy differed significantly among patient groups for women younger than 35 (p = 0.003) but not for women older than 35. In women <35, the rate of detected aneuploidy was 37.4% in the Aneuploid group, 20.9% in the X‐linked group and 27.0% in the RIF group. (p = 0.0003 when the control groups are combined). The frequency of other chromosome abnormalities, as well as pregnancy and implantation rates, did not differ significantly among patient groups.ConclusionsThis study suggests that a history of a trisomic pregnancy, whether or not it was a viable trisomy, is associated with an increased risk of another aneuploid conception at conception. Copyright © 2004 John Wiley & Sons, Ltd.
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey
Authors: Sensi A. , Cavani S. , Villa N. , Pomponi M. G. , Fogli A. , Gualandi F. , Grasso M. , Sala E. , Pietrobono R. , Baldinotti F. , Savin E. , Ferlini A. , Cecconi M. , Rossi S. , Gallone S. , Bellini C. , Neri G. , Martinoli E. , Simi P. , Dalprà L. , Genuardi M. , Dagna‐Bricarelli F. , Calzolari E. 
Published: August 2004

AbstractObjectivesThe risk of uniparental disomy (UPD) occurrence associated with the prenatal finding of balanced nonhomologous Robertsonian translocations (NHRTs) has been estimated only on limited empirical data. The aim of the study was to verify the estimate of the general risk, to get narrower confidence intervals by cumulating the data and to obtain risk estimates for specific translocation types.MethodsWe tested for UPD 160 prenatal specimens referred to the participant centers after the cytogenetic finding of NHRT.ResultsOne case of upd(14)mat was found, associated with a 45,XX,der(14;22)mat fetal karyotype. The general empirical risk of UPD occurrence in NHRT carrier fetuses, corrected for the actual number of chromosomes analyzed, was 0.76% (95% CI 0.02–4.25%). Cumulative data with previous studies gives a general risk of UPD associated with NHRT of 0.80% (95% CI 0.17–2.34%). The UPD risk for the specific NHRT der(13;14) did not significantly differ from that of the other NHRTs taken together.ConclusionThe present survey confirms the previously estimated risk of occurrence of UPD in offspring of NHRT carriers as a low, but not negligible risk, worth being investigated in prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis
Authors: Burin Maira G. , Scholz Ana P. , Gus Rejane , Sanseverino Maria Teresa V. , Fritsh Alessandra , Magalhães José A. , Timm Fernanda , Barrios Patrícia , Chesky Marisa , Coelho Janice C. , Giugliani Roberto 
Published: August 2004

AbstractObjectiveTo investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF).MethodsThirty‐three cases of NIHF were investigated, 28 in the prenatal period and 5 in hydropic newborns. In addition to a general investigation for NIHF, specific enzymatic analyses for the detection of LSD were performed.ResultsIn our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann–Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A.ConclusionAlthough LSDs are rare disorders as a group, they should be considered as a possible cause of NIHF, even in the absence of consanguinity or of a previous family history. By excluding the more frequent causes of NIHF, an LSD investigation assists in clarifying the etiology of many hydropic cases, making more appropriate genetic counseling for parents possible. Copyright © 2004 John Wiley & Sons, Ltd.
Evaluation of an integrated strategy for proteomic profiling of skeletal muscle
Authors: Le Bihan Marie‐Catherine , Tarelli Edward , Coulton Gary R. 
Published: August 2004

AbstractProteomic analysis of skeletal muscle presents particular challenges when trying to identify valid biomarkers of phenotypic change in small biopsies from genetically diverse human subjects. Currently, two‐dimensional (2‐D) gel electrophoresis and mass spectrometry are the chosen analytical strategies but 2‐D gels are not appropriate for analyzing proteins less than 11 kDa, they can suffer from problems of reproducibility and in routine use are not a viable high‐throughput technique. We have evaluated an integrated proteomic strategy employing Ciphergen ProteinChip® arrays, one‐dimensional polyacrylamide gel electrophoresis and mass spectrometry. Protein fingerprints characteristic of fast and slow contracting muscles from normal and kyphoscoliosis (ky) mutant mice were obtained from Ciphergen protein arrays. Eight statistically validated protein biomarkers have so far been identified capable of discriminating fast from slow muscle. Five of these showed further differential expression in ky versus normal BDL soleus muscles. Several biomarkers have been formally identified, and were myosin light chain isoforms shown previously to be expressed differentially by fast versus slow skeletal muscles. This integrated experimental approach using a model mouse muscle system shows the potential of Ciphergen protein array technology for proteomic analysis of small proteins in small muscle samples and its applicability for phenotypic characterization of skeletal muscle in general.
A critical evaluation of sample extraction techniques for enhanced proteomic analysis of recalcitrant plant tissues
Authors: Saravanan Ramu S. , Rose Jocelyn K. C. 
Published: August 2004

AbstractMost published proteomics studies of bulk plant tissues use a procedure in which proteins are precipitated with trichloroacetic acid (TCA) and acetone (TCA‐A), but few attempts have been made to contrast this approach in a systematic way with alternative methods against a spectrum of tissues. To address this, TCA‐A was compared with another acetone‐based protocol (TCA‐B) or a phenol (Phe)‐based method, targeting a range of tomato tissues and three species of fruits that contain high levels of contaminating compounds: banana, avocado and orange. The Phe method gave a higher protein yield and typically greater resolution and spot intensity, particularly with extracts from tissues containing high levels of soluble polysaccharides. The methods also generated remarkably different two‐dimensional gel electrophoresis (2‐DE) protein spot patterns. Peptide mass fingerprinting was used to identify polypeptides that were common to multiple extracts or uniquely present in one extract type. While no clear pattern emerged to explain the basis for the differential protein extraction, it was noted that the Phe method showed enhanced extraction of glycoproteins. These results suggest that the Phe protocol is highly effective with more recalcitrant tissues and that a combination of TCA‐A and Phe methods provides enhanced 2‐DE based proteomic analyses of most plant tissues.
The synaptic vesicle proteome: A comparative study in membrane protein identification
Authors: Coughenour Holly D. , Spaulding Reggie S. , Thompson Charles M. 
Published: August 2004

AbstractA proteomic analysis of the synaptic vesicle was undertaken to obtain a better understanding of vesicle regulation. Synaptic vesicles primarily consist of integral membrane proteins that are not well resolved on traditional isoelectric focusing/two‐dimensional gel electrophoresis (IEF/2‐DE) gels and are resistant to in‐gel digestion with trypsin thereby reducing the number of peptides available for mass spectrometric analysis. To address these limitations, two complementary 2‐DE methods were investigated in the proteome analysis: (a) IEF/sodium dodecyl sulfate‐polyacrylamide gel electrophoresis (IEF/SDS‐PAGE) for resolution of soluble proteins and, (b) Benzyl hexadecyl ammonium chloride/SDS‐PAGE (16‐BAC/SDS‐PAGE) for resolution of integral membrane proteins. The IEF/SDS‐PAGE method provided superior resolution of soluble proteins, but could only resolve membrane proteins with a single transmembrane domain. The 16‐BAC/SDS‐PAGE method improved separation, resolution and identification of integral membrane proteins with up to 12 transmembrane domains. Trypsin digestion of the integral membrane proteins was poor and fewer peptides were identified from these proteins. Analysis of both the peptide mass fingerprint and the tandem mass spectra using electrospray ionization quadrupole‐time of flight mass spectrometry led to the positive identification of integral membrane proteins. Using both 2‐DE separation methods, a total of 36 proteins were identified including seven integral membrane proteins, 17 vesicle regulatory proteins and four proteins whose function in vesicles is not yet known.
Proteomic study of a model causative agent of harmful algal blooms, Prorocentrum triestinum II: The use of differentially expressed protein profiles under different growth phases and growth conditions for bloom prediction
Authors: Chan Leo Lai , Hodgkiss Ivor John , Wan Jennifer Man‐Fan , Lum John Hon‐Kei , Mak Abby Sin‐Chi , Sit Wai‐Hung , Lo Samuel Chun‐Lap 
Published: August 2004

AbstractSimultaneous comparison of differentially expressed protein profiles of Prorocentrum triestinum grown under different growth phases and growth conditions indicated the presence of phase‐specific and stress‐responsive proteins, respectively. Correlation studies on these proteins in relation to cell division phasing patterns and to models of phytoplankton growth inferred the possible functions. Most notable among these proteins were groups of proteins thought to trigger or mediate cells through specific phases of division of this alga, e.g., BP1, BP2, PB1, PB2, and PB3. Other proteins (e.g., group 1 proteins) thought to be responsible for maintaining and supporting cell concentration under adverse conditions were found. Furthermore, another group of proteins (group 2 proteins) thought to be stress‐responsive were also detected. Taken overall, these differentially expressed proteins provided important information for uncovering various protective and adaptive mechanisms in the dinoflagellate's life cycle. These proteins have the potential to serve as “indicator proteins” for rapid assessment of the nutritional or metabolic status of these phytoplankton cells,and monitoring the differential expression of these phase‐specific proteins and stress‐specific proteins could be an important biomarker for bloom prediction.
Two‐dimensional electrophoresis database of Listeria monocytogenes EGDe proteome and proteomic analysis of mid‐log and stationary growth phase cells
Authors: Folio Patrice , Chavant Patrick , Chafsey Ingrid , Belkorchia Abdel , Chambon Christophe , Hébraud Michel 
Published: August 2004

AbstractListeria monocytogenes is the causative agent of listeriosis, one of the mo#st significant foodborne diseases in industrialized countries. The complete genome of the L. monocytogenes EGDe strain, belonging to the serogroup 1/2a, has been sequenced and is comprised of 2853 open reading frames. The objective of the current study was to construct a two‐dimensional (2‐D) database of the proteome of this strain. The soluble protein fractions of the microorganism were recovered either in the mid‐log or in the stationary phase of growth at 37°C. These fractions were analyzed by 2‐D electrophoresis (2‐DE), using immobilized pH gradient strips of various pH values (3–10, 3–6, and 5–8) for the first‐dimensional separations and 12.5% acrylamide gels for sodium dodecyl sulfate‐polyacrylamide gel electrophoresis (SDS‐PAGE). 201 protein spots corresponding to 126 different proteins were identified by matrix assisted laser desorption/ionization‐time of flight‐mass spectrometry (MALDI‐TOF‐MS). The 2‐DE maps presented here provide a first basis for further investigations of protein expression in L. monocytogenes. In this way, the comparison of proteome between cells in the exponential or stationary phase of growth at 37°C allowed us to characterize 161 variations in protein spot intensity, of which 38 were identified. Among the differentially expressed proteins were ribosomal proteins (RpsF, RplJ, and RpmE), proteins involved in cellular metabolism (GlpD, PdhD, Pgm, Lmo1372, Lmo2696, and Lmo2743) or in stress adaptation (GroES and ferritin), a fructose‐specific phosphotransferase enzyme IIB (Lmo0399) and different post‐translational modified forms of listeriolysin (LLO).