bluuebunny/crossref_metadata_2025_split huggingface dataset:
Measurement of HPRT activity in the human unfertilized oocyte and pre‐embryo
Authors: Braude Peter R. , Monk Marilyn , Pickering Susan J. , Cant Anne , Johnson Martin H. 
Published: March 2007

AbstractThe hypoxanthine phosphoribosyl transferase (HPRT) and adenine phosphoribosyl transferase (APRT) activities in individual non‐fertilized human eggs and in human pre‐embryos (4‐cell to blastocyst stage) have been analysed. A wide spread of activities was observed, the mean values of which decline with time post‐ovulation for both eggs and advancing preembryonic stages. The variation in activities was less in groups of eggs or pre‐embryos recovered from a single ovulatory cycle. The activity of HPRT, but not of APRT, was readily detectable in single 4‐cell and 8‐cell blastomeres. When pre‐embryos at various preimplantation stages were exposed to α‐amanitin, to block transcription of mRNA from the preembryonic genome, no clear effect on HPRT activity was observed. It is concluded that the HPRT and APRT activities measured in the pre‐embryos studied here are likely to be maternally inherited, and that use of a direct assay for HPRT activity for the pre‐implantation diagnosis of Lesch–Nyhan disease would be premature.
A rare case of 68,XX triploidy diagnosed by amniocentesis
Authors: Kaffe Sara , Eliasen Carol , Wan Livia , Charles Norman , Jansen Valerie , Alba Greco M. , Hsu Lillian Y. F. 
Published: March 2007

Abstract68,XX triploidy was found in the amniotic fluid cell culture of a 40‐year‐old patient. Elective termination of the pregnancy revealed a fetus with multiple congenital anomalies. While this case does show some common features with monosomy X, a greater similarity to the triploidy syndrome is observed.
Fetal skin biopsy in prenatal diagnosis of some genodermatoses
Authors: Bakharev V. A. , Aivazyan A. A. , Karetnikova N. A. , Mordovtsev V. N. , Yantovsky Yu. R. 
Published: March 2007

AbstractVarious methods of obtaining fetal skin for prenatal diagnosis of certain autosomal‐recessive congenital genodermatoses have been assessed. An attempt was made to obtain fetal skin by fetoscopy in 15 patients prior to pregnancy termination for a variety of medical reasons at 18–26 weeks. Specimens were obtained only in five cases (8 successful attempts out of 48). In twelve cases, of which five had a history of a child with junctional (Herlitz type) or dystrophic (Hallopeau‐Siemens type) epidermolysis bullosa or non‐bullous congenital ichthyosiform erythroderma at 16–25 weeks of pregnancy, fetal skin was obtained without fetoscopy under direct ultrasonic control. Specimens were obtained in all cases (33 successful attempts out of 39). In three cases, fetal pathology was diagnosed by the method of semi‐thin and ultra‐thin skin sections, and the respective pregnancies were terminated.
Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X)
Authors: Gonsoulin Whitney , Copeland Karen L. , Carpenter Robert J. , Hughes Mark R. , Elder Frederick F. B. 
Published: March 2007

AbstractFetal blood sampling has been used in the genetic work‐up of twin gestations for rapid karotyping. We present a case of twins which on ultrasound evaluation revealed hydrops fetalis in one twin and a normal second twin. Fetal blood sampling revealed the presence of mosaicism for 46,XY/45,X in both twins. HLA antigen testing showed the twins to be identical. The patient elected pregnancy termination. Blood chromosomal analysis after delivery revealed both twins to have 46,XY/45,X mosaicism, but the twin with signs of hydrops fetalis had tissue chromosomes of 45,X and the normal twin had tissue chromosomes of 46,XY. Amniotic fluid chromosomal analysis revealed 46,XY in twin A and 45,X in twin B. This represents a case of identical (monozygotic) twins with sex discordance. In this case, there was the probable occurrence of post‐zygotic chromosomal non‐disjunction leading to the discordancy of the sex in this set of twins. With the presence of vascular communication in monozygotic twins, there is the possibility of exchange of blood in monozygotic twins and the result of blood chimerism in twins.
Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis
Authors: Donnenfeld Alan E. , Wiseman Barbara , Lavi Ehud , Weiner Stuart 
Published: March 2007

AbstractThe prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome, utilizing ultrasound and cordocentesis, is described. To our knowledge, this represents the first prenatal diagnosis of this condition in an index case. The diagnostic evaluation of a fetus with upper extremity limb reduction defects is discussed.
Familial cystic hygroma with normal karyotype
Authors: Watson William J. , Thorp John M. , Seeds John W. 
Published: March 2007

AbstractA patient is described who had three consecutive fetuses with cystic hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with cystic hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but cystic hygroma may also occur is association with a variety of syndromes, some of which have other patterns of inheritance.
Unilateral congenital short femur: A case report
Authors: Ashkenazy M. , Lurie S. , Ben‐Itzhak I. , Appelman Z. , Caspi B. 
Published: March 2007

AbstractA case of congenital short femur in an otherwise healthy infant is described. Antenatal sonographic diagnosis was made at 26 weeks of gestation. The left femur was shorter than the right (ratio 0·82–0·85). In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow‐up.
First and early second‐trimester diagnosis of fetal urinary tract anomalies using transvaginal sonography
Authors: Bronshtein M. , Yoffe N. , Brandes J. M. , Blumenfeld Z. 
Published: March 2007

AbstractUrinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. One thousand nine hundred and forty women were examined via TVS at an early stage of pregnancy between 10 and 16 weeks from the last menstrual period (LMP) and 35 anomalies (1·8 per cent) were clearly identified: 29 cases of low urinary tract obstruction, 2 cases of multicystic dysplastic kidney, 2 cases of polycystic kidney (infantile type), 1 case of double collecting system, and 1 case of horseshoe kidney. Potter syndrome could be ruled out in three patients who had delivered fetuses suffering from this anomaly in previous pregnancies. The concise and early identification of anomalies makes TVS an important aid in the hands of the obstetrician, ultrasonographer, and neonatologist.
Ring 19 mosaicism detected during prenatal diagnosis
Authors: Gillessen‐Kaesbach Gabriele , Ngo Nhan T. K. 
Published: March 2007

AbstractA ring chromosome 19 was found in 14 of 20 metaphases (67 per cent) derived from amniotic fluid cell cultures following amniocentesis because of increased maternal age. Elective termination of the pregnancy revealed a hypotrophic female fetus with mild dysmorphic signs, but no congenital malformations. The case is discussed in relation to three reports in the literature of ring chromosome 19 mosaicism in a phenotypically normal girl, a mentally retarded man, and a boy with normal psychomotor development and minor dysmorphic features.
Potential role of the cellular allergen stimulation test (CAST) in diagnosis of allergic bronchopulmonary aspergillosis (ABPA) in cystic fibrosis
Authors: Ringer Stephanie , Hipler Uta‐Christina , Elsner Peter , Zintl Felix , Mainz Jochen 
Published: March 2007

AbstractAllergic bronchopulmonary aspergillosis (ABPA) is a severe complication in cystic fibrosis (CF), which is difficult to identify because of overlapping unspecific diagnostic features with common CF‐manifestations. The cellular allergen stimulation test (CAST) is used in diagnosis of allergic and pseudoallergic reactions. This assay is based on the determination of sulfidoleukotrienes, which are produced by allergen‐stimulated basophils in vitro. The potential role of CAST in diagnosis of ABPA was evaluated in this study. The CAST assay was applied in 27 CF‐patients including eight subjects with positive clinical and serological signs of ABPA. Additional to the Nelson‐criteria for diagnosis of ABPA specific IgE against recombinant Aspergillus antigens (rAsp f 1, 2, 3, 4, and 6) were assessed. The CAST results were positive in all ABPA‐patients and in five controls without any sign of ABPA except positive specific IgE against Aspergillus fumigatus (sensitivity of 100%, specificity of 74%). Specific IgE against rAsp f 4 and/or f 6 were positive in six of the eight ABPA‐patients, but not in the controls. Positive CAST results, total serum IgE > 500 U/ml and positive IgE antibodies against rAsp f 4 and/or f 6 were only found in ABPA‐patients (specificity of 100%). The CAST assay on its own includes high sensitivity with lower specificity. For the discrimination of ABPA from sensitization to Aspergillus, the CAST, the highly elevated total serum IgE and rAsp in combination are potential auxiliary diagnostic parameters. Pediatr Pulmonol. 2007; 42:314–318. © 2007 Wiley‐Liss, Inc.
Flexible fiberoptic bronchoscopy in children with heart diseases: A twelve years experience
Authors: Cerda Jaime , Chacón Jorge , Reichhard Cristina , Bertrand Pablo , Holmgren Nils L. , Clavería Cristián , Sánchez Ignacio 
Published: March 2007

AbstractIn children, cardiac diseases and respiratory disorders are tightly linked entities whose evaluation should be performed integrally. Flexible fiberoptic bronchoscopy (FB) presents a diagnostic and therapeutic role by assessing the airway anatomically, dynamically, and through the performance of several procedures. The present study describes our experience on FB assessment in children with congenital and acquired cardiac diseases, providing a characterization of the principal demographic and clinical features. Records of 72 patients under 14 years (mean age 21 months) with heart diseases, corresponding to 104 FB performed between January 1993 and October 2004 were reviewed. The principal cardiac diseases were left‐to‐right shunt (51.9%), followed by right‐to‐left shunt (17.3%) and miscellaneous cardiopathies (8.7%). The main indications for FB assessment were study of atelectasis (35%), stridor (14%), and pneumonia (14%). Airway malacias, as a group, were the commonest finding, represented mainly by left main bronchus malacia (24%). The second most common finding was stenosis by extrinsic compression, and among these, 75% corresponded to left main bronchus compression. Sixteen different types of clinically meaningful utilities were obtained. No mortality was reported and in only one procedure was there a major complication, which was easily managed. We concluded that FB is an important and safe diagnostic—therapeutic tool in the health care of neonates, infants, and children with a variety of cardiac diseases. Pediatr Pulmonol. 2007; 42:319–324. © 2007 Wiley‐Liss, Inc.
Effects of amino acid composition, finite size of proteins, and sparse statistics on distance‐dependent statistical pair potentials
Authors: Rykunov Dmitry , Fiser András 
Published: March 2007

AbstractStatistical distance dependent pair potentials are frequently used in a variety of folding, threading, and modeling studies of proteins. The applicability of these types of potentials is tightly connected to the reliability of statistical observations. We explored the possible origin and extent of false positive signals in statistical potentials by analyzing their distance dependence in a variety of randomized protein‐like models. While on average potentials derived from such models are expected to equal zero at any distance, we demonstrate that systematic and significant distortions exist. These distortions originate from the limited statistical counts in local environments of proteins and from the limited size of protein structures at large distances. We suggest that these systematic errors in statistical potentials are connected to the dependence of amino acid composition on protein size and to variation in protein sizes. Additionally, atom‐based potentials are dominated by a false positive signal that is due to correlation among distances measured from atoms of one residue to atoms of another residue. The significance of residue‐based pairwise potentials at various spatial pair separations was assessed in this study and it was found that as few as ∼50% of potential values were statistically significant at distances below 4 Å, and only at most ∼80% of them were significant at larger pair separations. A new definition for reference state, free of the observed systematic errors, is suggested. It has been demonstrated to generate statistical potentials that compare favorably to other publicly available ones. Proteins 2007 © 2007 Wiley‐Liss, Inc.
Activation loop phosphorylation‐independent kinase activity of human protein kinase C ζ
Authors: Ranganathan Senthil , Wang Yimin , Kern Francis G. , Qu Zhican , Li Rongbao 
Published: March 2007

AbstractAtypical protein kinase C ζ (PKCζ) plays an important role in cell proliferation and survival. PKCζ and its truncated form containing only the kinase domain, CATζ, have been reported to be activated by the phosphorylation of threonine 410 in the activation loop. We expressed both the full length PKCζ and CATζ in a baculovirus/insect cell over‐expression system and purified the proteins for biochemical characterization. Ion exchange chromatography of CATζ revealed three species with different levels of phosphorylation at Thr‐410 and allowed the isolation of the CATζ protein devoid of phosphorylation at Thr‐410. All three species of CATζ were active and their activity was not correlated with phosphorylation at Thr‐410, indicating that the kinase activity of CATζ did not depend solely on activation loop phosphorylation. Tyrosine phosphorylation was detected in all three species of CATζ and the full length PKCζ. Homology structural modeling of PKCζ revealed a conserved, predicted‐to‐be phosphorylated tyrosine residue, Tyr‐428, in the close proximity of the RD motif of the catalytic loop and of Thr‐410 in the activation loop. The structural analysis indicated that phospho‐Tyr‐428 would interact with two key, positively‐charged residues to form a triad conformation similar to that formed by phospho‐Thr‐410. Based on these observations, it is possible that the Thr‐410 phosphorylation‐independent kinase activity of CATζ is regulated by the phosphorylation of Tyr‐428. This alternative mode of PKCζ activation is supported by the observed stimulation of PKCζ kinase activity upon phosphorylation at the equivalent site by Abl, and may be involved in resistance to drug‐induced apoptosis. Proteins 2007. © 2007 Wiley‐Liss, Inc.
Identifying long‐range structure in the intrinsically unstructured transactivation domain of p53
Authors: Vise Pamela , Baral Bharat , Stancik Amber , Lowry David F. , Daughdrill Gary W. 
Published: March 2007

AbstractParamagnetic relaxation enhancement (PRE) was used to identify a compact dynamic structure for the intrinsically unstructured transactivation domain of the tumor suppressor protein, p53. Our results show that p53 residues essential for binding to the ubiquitin ligase, MDM2, and the 70 kDa subunit of replication protein A, RPA70, are separated by an average distance of 10–15 Å. This result suggests that a more extended member of the ensemble must be populated prior to binding either MDM2 or RPA70. We also show that PRE can be used to detect intermolecular distances between p53 and RPA70. Proteins 2007. © 2007 Wiley‐Liss, Inc.
Infantile gastroenteritis in the community:a cost-of-illness study
Authors: LORGELLY P. K. , JOSHI D. , ITURRIZA GÓMARA M. , FLOOD C. , HUGHES C. A. , DALRYMPLE J. , GRAY J. , MUGFORD M. 
Published: March 2007

SUMMARYRotavirus infections are the main cause of gastroenteritis in infants and children and it is expected that by the age of 5 years, nearly every child will have experienced at least one episode of rotavirus gastroenteritis. While severe cases are hospitalized, milder disease is either treated at home or by the GP, and as such the true prevalence of rotavirus infection in the community, and the burden of disease, is unknown. This paper reports the results of a cost-of-illness study which was conducted alongside a structured community surveillance study. Forty-eight percent of our sample was found to have rotavirus acute gastroenteritis; and the average total cost of a child presenting with rotavirus gastroenteritis ranged between £59 and £143 per episode, depending on the perspective. Given the prevalence and severity of the disease, the estimated burden of rotavirus gastroenteritis to society is £11.5 million per year.
Heterologous Protein Expression Affects the Death Kinetics of Baculovirus‐Infected Insect Cell Cultures: A Quantitative Study by Use of n‐Target Theory
Authors: Wu Suh‐Chin , Jarvis Donald L. , Dale Bruce E. , Liao James C. 
Published: March 2007

AbstractThe death of cultured insect cells after baculovirus infection is a time‐dependent event. Without a quantitative model, it is difficult to characterize its kinetics. Our group has shown that the cell survival rate can be characterized by use of the n‐target theory, which involves only two parameters: the number of hypothetical inactivation targets (n) and the first‐order death rate (k). In this study, we used different recombinant viruses to examine the effect of heterologous protein expression on the cell survival rate. The proteins expressed were β‐galactosidase, human T‐cell leukemia virus type I p40x, human interleukin‐2, and human tissue plasminogen activator (tPA). The survival rate was affected by protein expression, but the n value remained constant if the protein expression level was high (above 30 mg/L). Low‐level expression of secreted, glycosylated tPA resulted in a reduced n value, which was restored to the normal value when the tPA signal peptide and prosequence were deleted. In addition, if the n value was normal (10–11), the level of protein expression correlated negatively with the death rate. However, if the n value was reduced by unfavorable culture conditions or foreign protein expression, the expression level correlated positively with the death rate. A dimensionless plot with kt as the dimensionless time shows that alteration of the k value while retaining constant n is equivalent to a rescaling of time. Therefore, the survival curves with constant n reduce to a single curve on the dimensionless plot. Although the underlying mechanisms affecting n and k are still unknown, this study shows that they can serve as convenient phenotypes for investigating virus—host interactions.
Continuous β‐Galactosidase Production in Insect Cells with a p10 Gene Based Baculovirus Vector in a Two‐Stage Bioreactor System
Authors: Van Lier Frank L. J. , Van Duijnhoven C. F. Gerard , De Vaan Miranda M. J. A. C. M. , Vlak Just M. , Tramper Johannes 
Published: March 2007

AbstractContinuous production of polyhedra or baculovirus‐expressed proteins in insect cell cultures is limited to about 4 weeks. The decrease in production has been ascribed to the interference of defective deletion mutants with wild‐type baculoviruses. The deleted genome sequences include the polyhedrin gene (or the heterologous gene of interest); in the remaining part, the major late p10 gene is always maintained. In the present study, the productivity of a recombinant baculovirus with the lacZ gene from Escherichia coli cloned downstream of the p10 promoter at the p10 locus was investigated. It was hypothesized that this p10 promoter driven gene is preserved over a longer period of time in a continuously operated two‐stage bioreactor system than foreign genes behind the polyhedrin promoter at the polyhedrin locus. In two separate runs, β‐galactosidase production with the p10‐lacZ recombinant reached quasi‐steady‐state levels of 30 and 60 units/cm3. Polyhedron production was about 3 × 106 and 6 × 106 polyhedra/cm3, respectively. However, both polyhedron and β‐galactosidase production decreased after about 30 days of relatively constant production. In the infection reactor, deletion mutants of the virus, which contained both the polyhedrin and lacZ gene, were predominant. Therefore, the presence of the polyhedrin or p10 gene alone in deletion mutants is not sufficient for prolonged expression; other genes involved in major late gene expression and not present in the deleted virus are probably necessary.
Influence of Ammonium on Growth, Metabolism, and Productivity of a Continuous Suspension Chinese Hamster Ovary Cell Culture
Authors: Hansen Henrik A. , Emborg Claus 
Published: March 2007

AbstractA recombinant DNA Chinese hamster ovary (CHO) cell line which produces tissue‐type plasminogen activator (t‐PA) was cultivated continuously in suspension with a constant dilution rate of 0.5 day−1. The cultivation consisted of four phases with four different ammonium chloride concentrations (0,2.5, 5, and 7.5 mM) in the feed medium, causing a reactor ammonium concentration of up to 8 mM. Cell growth was not inhibited by these high ammonium concentrations, as cell densities of around 2.3 × 106 cells mL−1 were established. In contrast, the production of t‐PA was reduced under high ammonium concentration. The decrease in specific t‐PA production could be due to either a negative ammonium influence on productivity or a limitation of medium components, e.g., amino acids. Cell metabolism was changed under high ammonium concentrations, seen most clearly by a decrease in specific ammonium production by a factor of 8 and an increase in specific alanine production of 30%.
Fermentation Process Monitoring through Measurement of Aerosol Release
Authors: Huang Yu‐Li , Willeke Klaus , Juozaitis Arvydas , Donnelly Jean , Leeson Andrea , Wyza Robert 
Published: March 2007

AbstractFermentation involves many complex biological processes, some of which can be difficult to monitor. In this study, aerosol measurement was explored as an additional technique for monitoring a batch aerobic fermentation process using Escherichia coli strain W3110. Using this technique, a small aerosol extraction flow from the fermentor was continuously dried in‐line and analyzed with an aerosol size spectrometer and an aerosol photometer, used to measure the size‐integrated aerosol concentration. The results of the measurements demonstrated that the bacterial growth rate and the aerosol number concentration changed in a similar fashion: the effluent aerosol number concentration increased during the exponential growth phase and subsequently decreased after the bacterial cell concentration had reached a stable level. This aerosol concentration increased sharply approximately 1 h after initiation of growth. Thus, this increase in aerosol concentration suggests that the release of aerosols changes as a function of the microbial product formation activity. The products may change the rheological properties of the liquid, especially if surface‐active compounds are produced. The increase in aerosol concentration corresponds to a decrease in the values of the measured surface tension during the same time frame. Furthermore, the aerosol size spectrometer and the photometer showed similar time traces of the effluent aerosols. The size distributions of the solid residues from the fermentation broth remained relatively constant, while the concentrations changed with the phase of fermentation. As the photometer is inexpensive, it appears promising as a convenient instrument for monitoring fermentation processes.