bluuebunny/crossref_metadata_2025_split huggingface dataset:
Advances in otologic microsurgery
Authors: Eby Thomas L. 
Published: March 2007

AbstractRecent advances in otologic microsurgery have brought progress in the improvement of hearing impairment, alleviation of vertigo, and removal of skull base tumors. Refinement of stapedectomy techniques, use of new biocompatible prostheses, and other advances promise improved results with established otologic procedures. In addition, implantable hearing aids and cochlear implants will increasingly improve hearing in patients who previously could not be helped. The surgical methods for vestibular nerve section continue to be refined to help the surgeon and minimize risk to the patient. The challenging new field of skull base surgery has been opened through the combined efforts of otologists and other specialists. The recent advances in these fields are reviewed.
The quiet embryo hypothesis: Molecular characteristics favoring viability
Authors: Baumann Christoph G. , Morris Dermot G. , Sreenan Joseph M. , Leese Henry J. 
Published: March 2007

AbstractIt has been proposed that the viability of early mammalian embryos is associated with a metabolism that is “quiet” rather than “active” (Leese HJ, 2002:BioEssays 24:845–849). The data on which this hypothesis was based were largely drawn from measurements on the depletion and appearance of amino acids from the culture medium. Data on the de novo synthesis of protein in in vivo‐ and in vitro‐derived bovine embryos, as determined from the flux of radiolabeled methionine, have provided further support of the hypothesis and are interpreted to provide a new set of testable propositions that could illuminate the molecular basis of the quiet metabolism phenotype. The propositions are based on the premise that the extent of DNA damage, and the RNA and protein content of the immature oocyte, are key factors in determining whether the zygote progresses to the blastocyst stage. We propose that stochastic events and environmental stresses determine whether the condition of the genome, transcriptome, and proteome of the zygote will support development. Several molecular components are identified that may determine the viability of a zygote, and we speculate that the cellular response to unfavorable events or excessive DNA damage may be the premature activation of the embryonic genome and of apoptosis. Mol. Reprod. Dev. 74: 1345–1353, 2007. © 2007 Wiley‐Liss, Inc.
A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family
Authors: Hansen Martin A. , Nielsen John E. , Retelska Dorota , Larsen Niels , Leffers Henrik 
Published: March 2007

AbstractMany testis‐specific genes from the sex chromosomes are subject to rapid evolution, which can make it difficult to identify murine genes in the human genome. The murine CYPT gene family includes 15 members, but orthologs were undetectable in the human genome. However, using refined homology search, sequences corresponding to the shared promoter region of the CYPT family were identified at 39 loci. Most loci were located immediately upstream of genes belonging to the VCX/Y, SPANX, or CSAG gene families. Sequence comparison of the loci revealed a conserved CYPT promoter‐like (CPL) element featuring TATA and CCAAT boxes. The expression of members of the three families harboring the CPL resembled the murine expression of the CYPT family, with weak expression in late pachytene spermatocytes and predominant expression in spermatids, but some genes were also weakly expressed in somatic cells and in other germ cell types. The genomic regions harboring the gene families were rich in direct and inverted segmental duplications (SD), which may facilitate gene conversion and rapid evolution. The conserved CPL and the common expression profiles suggest that the human VCX/Y, SPANX, and CSAG2 gene families together with the murine SPANX gene and the CYPT family may share a common ancestor. Finally, we present evidence that VCX/Y and SPANX may be paralogs with a similar protein structure consisting of C terminal acidic repeats of variable lengths. Mol. Reprod. Dev. 75: 219–229, 2008. © 2007 Wiley‐Liss, Inc.
Time course of meiotic progression after transferring primary spermatocyte into ooplasm at different stages
Authors: Nan Chang‐Long , OuYang Ying‐Chun , Zhao Zhen‐Jun , Jiang Yan , Lei Zi‐Li , Huang Jun‐Cheng , Song Xiang‐Fen , Sun Qing‐Yuan , Chen Da‐Yuan 
Published: March 2007

AbstractThis study attempted to investigate the time course of meiotic progression after transferring primary spermatocyte (PS) into ooplasm at different maturing stages. In present experiments, PSs were introduced into maturing ooplasts or oocytes by electrofusion. Higher fusion rate was obtained by phytohemagglutinin (PHA) agglutination than by perivitelline space (PVS) insertion. When the ooplasms prepared at 0, 2, 5, and 8.5 hr of in vitro maturation (IVM) were used as recipients and PSs were used as donors, the reconstructed cells extruded the first polar body (PB1) approximately 8.5, 7, 5.5, and 3 hr after electrofusion, respectively. Especially, when ooplasm cultured for 8.5 hr in vitro after GV removal was fused with PS, the PB1 was emitted 7–11 hr after electrofusion. Additionally, the PB1 extrusions of GV and pro‐MI oocytes fertilized with PSs were 2.5 hr earlier than control oocytes. The results suggest that (1) PSs undergo the first meiosis in different time courses when introduced into ooplasm at different maturing stages; (2) GV material plays an important role in determining the timing of PB1 extrusion; and (3) first meiotic division of GV and pro‐MI oocytes can be accelerated by introducing PS. Mol. Reprod. Dev. 74: 1072–1080, 2007. © 2007 Wiley‐Liss, Inc.
Selenium improves the developmental ability and reduces the apoptosis in porcine parthenotes
Authors: Uhm Sang Jun , Gupta Mukesh Kumar , Yang Ji Hoon , Lee Sung‐Ho , Lee Hoon Taek 
Published: March 2007

AbstractSelenium is an essential trace element in conventional tissue culture media to guarantee adequate biosynthesis of selenoprotein in cellular antioxidant system to protect the cells from oxidative damage and apoptosis. This study investigated the effect of selenium, in the form of sodium selenite (SS), on developmental ability and quality of in vitro produced porcine parthenotes. For this, parthenogenetic presumptive diploid zygotes were produced by electroactivation and cultured in the absence or presence of SS at different concentrations (0, 2.5, 25, 250 ng/ml) in a serum‐free defined culture medium supplemented with polyvinyl alcohol (PVA) or bovine serum albumin (BSA). Results showed that, development rate of 2–4 cell stage parthenotes to blastocyst and their cell number was increased while TUNEL index was decreased, in a dose‐dependent manner, when SS was supplemented to NCSU23 + PVA. Interestingly, the blastocyst rate and their quality approached to those cultured in NCSU23 + BSA (P < 0.05), thereby suggesting PVA + 25 ng/ml SS to be a partial replacement of BSA. In the presence of PVA, supplementation of SS at a concentration of 25 ng/ml did not improve the cleavage rate of in vitro matured oocytes but there was significant improvement in the blastocyst rate (45.4 ± 8.8% vs. 12.7 ± 4.8%), total nuclei number (42.1 ± 3.5 vs. 31.3 ± 2.9) and inner cell mass (ICM) rate (29.4 ± 1.5% vs. 21.3 ± 1.2%) and decrease in TUNEL index (5.6 ± 0.5 vs. 12.9 ± 1.3) compared to nonsupplemented controls. The SS supplementation also decreased the BAX:BCL‐xL transcript ratio, increased the expression of ERK1/2 and glutathione peroxidase (GPX) and reduced the level of Caspase 3 proteins (P < 0.05). These data thus suggest that SS improves the development rate and quality of porcine parthenotes by preventing oxidative damage and apoptosis. Mol. Reprod. Dev. 74: 1386–1394, 2007. © 2007 Wiley‐Liss, Inc.
Volume‐selective Water‐suppressed Proton Spectra of Human Brain and Muscle in vivo
Authors: Bárány M. , Venkatasubramanian P. N. 
Published: March 2007

AbstractVolume‐selective water‐suppressed proton spectra were recorded from live human brain and muscle at 1.5 T by combining a stimulated echo acquisition mode pulse sequence for localization and two saturation pulses for water suppression (Frahm et al., SMRM Abstracts, 1987). Metabolite signals were observed in voxels of size 4–64 cm3. Signals from —CH3 and β‐CH2 of N‐acetylaspartate, N—CH3 and N—CH2 of phosphocreatine/creatine, —N(CH3)3 of choline and inositol protons were visible in the brain spectra from normal subjects. Differences in metabolite levels were observed between gray and white matters of brain from their water‐suppressed spectra. Peaks from N—CH3 of phosphocreatine/creatine and —+N(CH3)3 of choline and carnitine were present in normal muscle spectra along with several resonances from fatty acyl chains.
Forebrain ischemia studied using magnetic resonance imaging and spectroscopy
Authors: Saunders John K. , Smith Ian C. P. , Mactavish James C. , Rydzy Marek , Peeling James , Sutherland Eric , Lesiuk Howard , Sutherland Garnette R. 
Published: March 2007

AbstractA combination of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) has been used to follow the time course of changes resulting from forebrain ischemia in the rat. The 31P MRS demonstrates that the level of high energy metabolites decreases significantly during the 10 min ischemic period but returns to normal after 1 h of reperfusion. MRI shows no change after 1 h of reperfusion but significant changes in the striatum after 24 h and in the hippocampus after 48 h. These changes correlate well with histopathology. Diabetic rats have shown the effect of hyperglycemia in accentuation of ischemic and post ischemic pH changes. Conversely, diabetic rats maintained severely hypoglycemic with insulin showed little variation in pH during or following the ischemic insult. The results emphasize the importance of both MRS and MRI in following the temporal profile and distribution of ischemic neuronal injury.
Image directed proton spectroscopy of gerbil brain at 7 Tesla
Authors: Middleton D. A. , Glen S. , Reid D. G. , Hockings P. D. , Rose S. E. , Crozier S. , Roffman W. , Doddrell D. M. , Rothaul A. L. , Hunter A. J. 
Published: March 2007

AbstractImage directed localized 1H NMR spectra were obtained at 7 T (300 MHz) from cubic volumes of less than 40 m̈L in the gerbil brain. Signals from cerebral metabolites commonly detected in other rodent species were easily assigned, and high resolution spectroscopy (360 MHz) of aqueous brain extracts assisted the tentative identification of partially overlapping resonances from lower concentration compounds like alanine, lysine, γ‐aminobutyrate, valine, leucine and isoleucine. Weak coupling at 7 T was manifest in the resolution of signals from the γ‐CH2 groups of glutamine and glutamate. Down‐field of water, signals assigned to purine nucleotides were conspicuous in the extract spectra, but localized spectra acquired routinely in vivo, using selective excitation and gradient crushing (SUBMERGE) for water suppression, exhibited little or no signal from purines. When localized in vivo spectra were acquired without water suppression, however, or using a low power binomial excitation sequence rather than SUBMERGE, a broad signal appeared at the resonant frequency of purine aromatic protons. NMR experiments on the nucleotide adenosine 5′‐monophosphate (AMP) in 90% glycerol/10% D2O solution demonstrated that pre‐irradiation of the water signal even for less than 100 ms attenuated the nucleotide signal appreciably. This implies that the soft pulses required for selective excitation of water in sequences such as SUBMERGE induce spin‐diffusion which eliminates or diminishes the signal from nucleotides in vivo.
Prenatal ultrasonic diagnosis of radial‐ray aplasia and renal anomalies (acro‐renal syndrome)
Authors: Meizner Israel , Bar‐Ziv Jacob , Barki Yehiel , Abeliovich Dvorah 
Published: March 2007

AbstractPrenatal ultrasonic diagnosis of a rare case of radial ray aplasia and crossed renal ectopy is described in an affected sibling of a family where the father and his son suffer from this rare syndrome. The prenatal diagnosis enabled early pregnancy termination.
Two unusual cases of first trimester prenatal diagnosis of cystic fibrosis using DNA probes
Authors: Law H.‐Y. , Stanier P. , Williamson R. , Modell B. , Ward R. H. T. , Petrou M. , Old J. , Farrall M. 
Published: March 2007

AbstractThere are now several DNA probes which localize the cystic fibrosis mutation (CF) to chromosome 7q2.2‐q3.1. The most tightly linked probes, pJ3.11 and met, are useful for first trimester prenatal diagnosis for many families provided that there is at least one living child affected by CF (Farrall et al., 1986). We describe here two families seeking prenatal diagnosis for CF which present unusual counselling problems. The first is an extended family in which there is no living affected member with CF; the second, a consanguinous marriage at risk both for cystic fibrosis and β‐thalassaemia. In both cases first trimester chorionic villus sampling and DNA haplotype analysis predicted that the fetus is a carrier for CF, and in the doubly affected family a carrier for β‐thalassaemia as well. Both pregnancies resulted in live births and subsequent immunoreactive trypsin estimations were both in the normal range.
Aryl sulphatase isoenzymes of chorionic villi: Implications for prenatal diagnosis
Authors: Giles L. , Cooper A. , Fowler B. , Sardharwalla I. B. , Donnai P. 
Published: March 2007

AbstractPrenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH optimum, Km values and linearity with incubation time were found. These differences can be explained by the presence of aryl sulphatase C (ASC), a major component in chorionic villi and placenta. This isoenzyme was shown to have activity towards p‐nitrocatechol sulphate (NCS) thereby interfering in the colorimetric assay most often used to detect MLD (Baum et al., 1959).
Use of 4‐methylumbelliferyl‐6‐sulpho‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside for prenatal diagnosis of tay‐sachs disease using chorionic villi
Authors: Grebner Eugene E. , Wenger David A. 
Published: March 2007

AbstractPrenatal diagnosis of Tay‐Sachs disease was performed using the sulphated substrate 4‐ methylumbelliferyl‐6‐sulpho‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside to detect hexosaminidase A in chorionic villi. The presence or absence of hexosaminidase A in villi was detected by both a quantitative enzyme assay, and by a rapid, novel procedure which permitted visual discrimination between normal and affected villi.
Fetal karyotype following ascertainment of fetal anomalies by ultrasound
Authors: Palmer Catherine G. , Miles Judith H. , Howard‐Peebles Patricia N. , Magenis R. Ellen , Patil Shivanand , Friedman Jan M. 
Published: March 2007

AbstractData pooled from contributors to a Registry for Cytogenetic Abnormalities and PKU (ReCAP) shows an unbalanced chromosome abnormality rate of 27 per cent (29 fetuses) for 107 fetuses with ultrasonically diagnosed fetal anomalies. Of the abnormal, 12 were trisomic, 6 were monosomy X and 6 were structural abnormalities, 4 were mosaics and one triploid.
Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses
Authors: Hausser Ingrid , Anton‐Lamprecht Ingrun 
Published: March 2007

AbstractHopes are held out for chorion villus sampling, a technique which is gaining more and more importance for the first trimester prenatal diagnosis of chromosomal aberrations and metabolic abnormalities. A variety of inherited skin diseases can be diagnosed postnatally and prenatally (in the second trimester) by ultrastructural diagnostic markers. For evaluation of prenatal diagnosis in the first trimester, we investigated chorionic villi derived from the trophoblast layer of the early pregnancy by light microscopy and conventional electron microscopy. The ultrastructure of the cellular layers covering the villi, i.e., the inner cytotrophoblast and the outer syncytiotrophoblast, as well as that of the connective tissue of the inner extraembryonic mesoderm, are thoroughly described in relation to the ultra‐structural changes in certain genodermatoses including epidermolyses and keratinization disorders. We found that chorionic villi have only a few of the characteristics differentiated in skin, and none of the structures which are relevant to the diagnosis of genodermatoses. In our view, the ultrastructural approach is not suitable for first trimester prenatal diagnosis of genodermatoses in chorionic villi.
Congenital cystic hygroma of the neck diagnosed prenatally: Outcome with normal and abnormal karyotype
Authors: Abramowicz Jacques S. , Warsof Steven L. , Doyle Debra Lochner , Smith Deborah , Levy Donald L. 
Published: March 2007

AbstractTwenty‐two cases of cystic hygromas were diagnosed prenatally at Eastern Virginia Medical School and followed through the neonatal period. Our series was combined with 131 cases which have been described in the literature. Karyotypes were obtained in 110 fetuses and 80 (72·7 per cent) were abnormal. Fifty‐one were not terminated: 30 with abnormal and 21 with normal karyotypes. There were no neonatal survivors in the group with abnormal karyotypes. There were five survivors in the 21 with normal karyotypes but only 2/21 without severe medical complications. Combining our series with those previously reported in the literature would suggest only a 2–3 per cent rate of intact survivors when fetal cystic hygromas are diagnosed in utero. This information should be helpful when counselling patients whose pregnancies carry this diagnosis.
Human chorionic gonadotropin levels in pregnancies with aneuploid fetuses
Authors: Bogart Mark H. , Golbus Mitchell S. , Sorg Nancy D. , Jones O. W. 
Published: March 2007

AbstractMaternal serum human chorionic gonadotropin (hCG) and the free alpha‐hCG subunit were evaluated in 249 women from 9 to 11 weeks gestation who subsequently underwent chorionic villus sampling for determination of fetal karyotype and in 20 women of 18 or more weeks gestation who were ascertained to have an aneuploid fetus by genetic amniocentesis. Seven of the first‐trimester pregnancies were determined to be aneuploid and six had hCG levels in the normal range (one triploid pregnancy had elevated hCG levels) whereas 12 of the 20 secondtrimester cases had abnormal hCG levels and an additional three had elevated levels of alpha‐hCG. This study confirms the previous report of abnormal maternal serum hCG levels in women with an aneuploid fetus at ≥ 18 weeks gestation and demonstrates that hCG evaluation is not useful at 9–11 weeks gestation for selecting pregnancies at risk for fetal aneuploidy.
Non‐ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis
Authors: Garcia‐Muñoz M. J. , Belloque J. , Merinero B. , Pérez‐Cerdá C. , Sanz P. , Ugarte M. 
Published: March 2007

AbstractWe describe a prenatal diagnosis of a fetus at risk for non‐ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false‐negative prediction was made. The reliability of this method is questioned.
Prenatal diagnosis of a partial 8p
Authors: Pezzolo Trisomy A. , Bicocchi M. P. , Zampatti C. , Cuoco C. , Gimelli G. 
Published: March 2007

AbstractThe index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio‐ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.
First‐trimester maternal serum alphafetoprotein and chorionic gonadotropin in aneuploid pregnancies
Authors: Johnson Anthony , Cowchock F. Susan , Darby Marilyn , Wapner Ronald , Jackson Laird G. 
Published: March 2007

AbstractFirst‐trimester maternal serum alpha‐fetoprotein (AFP) and human chorionic gonadotropin (HCG) levels were measured in samples from 29 women with cytogenetically abnormal pregnancies and 145 women with cytogenetically normal pregnancies matched for gestational age, race, and sample storage time. All patients had a risk of fetal aneuploidy greater than or equal to that of a mother 35 years of age. AFP was significantly lower in samples from pregnancies affected with trisomy 21 (0.67 MoM;p <0.05), while HCG values were no different from those of matched controls. Trisomies 13 and 18 could not be distinguished from matched controls by AFP. However, levels of HCG were significantly lower in such pregnancy samples, with median values of 0.65 MoM in trisomy 13 and 0.32 MoM in trisomy 18 (p<0.05). Variations in AFP and HCG levels suggest that expressed differences between autosomal aneuploidies include differences in fetal and placenta! protein production in the first trimester.
Pallister‐Killian syndrome diagnosed by chorionic villus sampling
Authors: Sharland Michael , Hill Lucille , Patel Rashmi , Patton Michael 
Published: March 2007

AbstractThe first prenatal diagnosis of Pallister‐Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.
Future use and development of prenatal diagnosis. Consumers' attitudes
Authors: Sjögren Berit 
Published: March 2007

AbstractThe rapid progress of prenatal diagnosis and genetic tests makes it important to investigate attitudes towards this development. A total of 40 women and 20 men with personal experience of prenatal diagnosis for chromosome aberrations were interviewed about their moral opinion of the development. The majority (88 per cent) considered it certain or probable that all new methods developed will also be used in the future. The majority (62 per cent) were hesitant about testing for common disorders, e.g., diabetes mellitus and rheumatoid arthritis, but regarded it justified in some situations. One‐third of the individuals (31 per cent) wanted some kind of restrictions for the use of the tests, but only 13 per cent recommended legislation for this purpose. The majority (84 per cent) believed that ethical principles are influenced by scientific progress. In most aspects, the women and their partners had similar attitudes. However, 82 per cent of the women but only 20 per cent of the men considered that the couple itself should decide about prenatal diagnosis. The results demonstrated a considerable respect regarding the difficult choices associated with the development of prenatal diagnosis, also among those who have decided in favour of the test. The study indicated a greater need for autonomy among women than among men.