bluuebunny/crossref_metadata_2025_split huggingface dataset:
The placental RCAS1 expression during stillbirth
Authors: Wicherek Lukasz , Klimek Marek , Czekierdowski Artur , Popiela Tadeusz J , Galazka Krystyna , Tetlak Tomasz , Gilowski Andrzej , Dutsch-Wicherek Magdalena 
Published: June 2005

AbstractBackgroundIndependently of the fetal death cause the beginning and course of stillbirth is closely related with the growing cytotoxic activity at the maternal-fetal interface. RCAS1 participates in the inhibition of maternal immune response during pregnancy. The alterations of RCAS1 protein expression in placental cells seem to determine the beginning of the labor and participate in the placental abruption. The aim of the present study was to investigate RCAS1 expression in placentas obtained following stillbirths or normal term births. Methods: RCAS1 expression was evaluated by Western blot method with the use of monoclonal anti-RCAS1 antibody in 67 placental tissue samples. Pregnant women were divided into four groups according to the mode of labor onset – spontaneous or induced, and the type of labor, stillbirth or labor at term. Placental beta-Actin expression was chosen as a control protein. Relative amounts of placental RCAS1 were compared with the use of Student's t-test, whereas beta-Actin control data were compared with the use of Mann-Whitney U test. Results: The average relative amount of RCAS1 was significantly lower in women with induced stillbirths than in women with induced labor at term. Similarly, significantly lower RCAS1 placental levels were observed in patients with spontaneous stillbirths than in women with spontaneous labor at term. Significant differences in RCAS1 expression were also observed with the respect to the beginning of the stillbirth: spontaneous and induced. Lowest RCAS1 placental levels were observed in women with spontaneous stillbirth. Conclusions: These preliminary results indicate that the alterations of RCAS1 expression in the human placenta may be involved in the changes of maternal immune system that take place during stillbirth.
Colony-Stimulating Factors for Chemotherapy-Induced Febrile Neutropenia: A Meta-Analysis of Randomized Controlled Trials
Authors: Clark Otavio A.C. , Lyman Gary H. , Castro Aldemar A. , Clark Luciana G.O. , Djulbegovic Benjamin 
Published: June 2005

Purpose Current treatment for febrile neutropenia (FN) includes hospitalization for evaluation, empiric broad-spectrum antibiotics, and other supportive care. Clinical trials have reported conflicting results when studying whether the colony-stimulating factors (CSFs) improve outcomes in patients with FN. This Cochrane Collaboration review was undertaken to further evaluate the safety and efficacy of the CSFs in patients with FN. Methods An exhaustive literature search was undertaken including major electronic databases (CANCERLIT, EMBASE, LILACS, MEDLINE, SCI, and the Cochrane Controlled Trials Register). All randomized controlled trials that compare CSFs plus antibiotics versus antibiotics alone for the treatment of established FN in adults and children were sought. A meta-analysis of the selected studies was performed. Results More than 8,000 references were screened, with 13 studies meeting eligibility criteria for inclusion. The overall mortality was not influenced significantly by the use of CSF (odds ratio [OR] = 0.68; 95% CI, 0.43 to 1.08; P = .1). A marginally significant result was obtained for the use of CSF in reducing infection-related mortality (OR = 0.51; 95% CI, 0.26 to 1.00; P = .05). Patients treated with CSFs had a shorter length of hospitalization (hazard ratio [HR] = 0.63; 95% CI, 0.49 to 0.82; P = .0006) and a shorter time to neutrophil recovery (HR = 0.32; 95% CI, 0.23 to 0.46; P < .00001). Conclusion The use of the CSFs in patients with established FN caused by cancer chemotherapy reduces the amount of time spent in hospital and the neutrophil recovery period. The possible influence of the CSFs on infection-related mortality requires further investigation.
Transforming Growth Factor-β3 Increases Gap-Junctional Communication among Folliculostellate Cells to Release Basic Fibroblast Growth Factor
Authors: Kabir Nurul , Chaturvedi Kirti , Liu Lian Sheng , Sarkar Dipak K. 
Published: June 2005

AbstractFolliculostellate (FS) cells are known to communicate with each other and with endocrine cells via gap junctions in the anterior pituitary. We investigated whether TGFβ3 and estradiol, known to regulate FS cell production and secretion of basic fibroblast growth factor (bFGF), increases gap junctional communication to alter bFGF secretion from FS cells. FS cells in monolayer cultures were treated with TGFβ3 or vehicle alone for 24 h and then microinjected with Lucifer Yellow and high-molecular-weight Texas Red dextran. Ten minutes later the transfer of dye among adjacent cells was recorded with a digital microscope. TGFβ3 increased the transfer of dye. The TGFβ3-neutralizing antibody and the gap junction inhibitor octanol reduced the effect of TGFβ3 on the transfer of dye. The TGFβ3-induced transfer of dye was unaltered by simultaneous treatment with estradiol. The steroid alone also had no effect. TGFβ3 increased total and phosphorylated levels of connexin 43. Estradiol treatment did not produce any significant changes on basal or TGFβ3-induced increases in connexin 43 levels. The gap-junction inhibitor octanol reduced TGFβ3-increased levels of bFGF in FS cells. Taken together, these results suggest that TGFβ3 may act on FS cells to increase gap-junctional communication to maximize its effect on bFGF secretion.
A Ftz-F1-Containing Yeast Artificial Chromosome Recapitulates Expression of Steroidogenic Factor 1 in Vivo
Authors: Karpova Tatiana , Presley Jeremy , Manimaran Rengasamy R. , Scherrer Serge P. , Tejada Lovella , Peterson Kenneth R. , Heckert Leslie L. 
Published: June 2005

AbstractSteroidogenic factor 1 (SF-1/Nr5a1) is an orphan nuclear receptor encoded by the Ftz-F1 gene and is required for gonad and adrenal development and regulation of hormone production within the reproductive and adrenal axes. To extend our understanding of Ftz-F1 and its role in SF-1 expression, we identified and characterized a yeast artificial chromosome (YAC) containing Ftz-F1. Within this YAC, Ftz-F1 is centrally located and flanked by genes encoding a second orphan nuclear receptor, germ cell nuclear factor, and proteasome (prosome, macropain) subunit β type 7. Three lines of transgenic mice carrying the YAC were generated and in two lines (lines 7 and 14), RT-PCR and ribonuclease protection analysis showed that expression of transgenic SF-1 mimicked that of endogenous SF-1, both spatially and quantitatively. In the third line (line 15), pituitary and hypothalamic expression were absent. Comparison of the integrated transgenes revealed that line 15 was truncated at the end of intron 4 and revealed a region within the locus that is responsible for SF-1 expression in the pituitary and hypothalamus. The line 14 transgene was introduced into a mouse strain lacking functional SF-1. Examination of SF-1-deficient, transgene-positive mice revealed that the YAC was able to rescue adrenal and gonad development, which normally arrests in the SF-1-null embryos and showed that the 153-kb transgene integrated in line 14 is sufficient to properly direct SF-1 expression and support its biological activity. Thus, the study defines a region of Ftz-F1 that contains the requisite set of regulatory elements to direct SF-1 cell-specific expression and all temporal and quantitative changes need for its biological activity.
Case–Control and Two-Gate Designs in Diagnostic Accuracy Studies
Authors: Rutjes Anne WS , Reitsma Johannes B , Vandenbroucke Jan P , Glas Afina S , Bossuyt Patrick MM 
Published: June 2005

Abstract
Background: In some diagnostic accuracy studies, the test results of a series of patients with an established diagnosis are compared with those of a control group. Such case–control designs are intuitively appealing, but they have also been criticized for leading to inflated estimates of accuracy.
Methods: We discuss similarities and differences between diagnostic and etiologic case–control studies, as well as the mechanisms that can lead to variation in estimates of diagnostic accuracy in studies with separate sampling schemes (“gates”) for diseased (cases) and nondiseased individuals (controls).
Results: Diagnostic accuracy studies are cross-sectional and descriptive in nature. Etiologic case–control studies aim to quantify the effect of potential causal exposures on disease occurrence, which inherently involves a time window between exposure and disease occurrence. Researchers and readers should be aware of spectrum effects in diagnostic case–control studies as a result of the restricted sampling of cases and/or controls, which can lead to changes in estimates of diagnostic accuracy. These spectrum effects may be advantageous in the early investigation of a new diagnostic test, but for an overall evaluation of the clinical performance of a test, case–control studies should closely mimic cross-sectional diagnostic studies.
Conclusions: As the accuracy of a test is likely to vary across subgroups of patients, researchers and clinicians might carefully consider the potential for spectrum effects in all designs and analyses, particularly in diagnostic accuracy studies with differential sampling schemes for diseased (cases) and nondiseased individuals (controls).
Maternal Serum Invasive Trophoblast Antigen and First-Trimester Down Syndrome Screening
Authors: Palomaki Glenn E , Knight George J , Neveux Louis M , Pandian Raj , Haddow James E 
Published: June 2005

Abstract
Background: In the United States, Down syndrome screening is still performed mainly in the second trimester, using 3 or 4 markers. Moving screening into the first trimester has the advantage of earlier diagnosis. Currently, first-trimester screening typically includes maternal serum pregnancy-associated plasma protein-A (PAPP-A), the free β-subunit of human chorionic gonadotropin (free β), and ultrasound measurement of nuchal translucency thickness (NT). The current report describes a case–control study of serum invasive trophoblast antigen (ITA) and its possible inclusion in first-trimester screening for Down syndrome.
Methods: As part of an earlier observational study, serum samples from 54 Down syndrome and 276 matched unaffected pregnancies were collected between 9 and 15 weeks of gestation. Samples had been aliquoted and stored at −20 °C for 8 years. ITA was measured and converted to weight-adjusted multiples of the median (MoM). The distributions of other first-trimester markers are from a single published study.
Results: Median ITA MoM in Down syndrome pregnancies increase as gestational age increases (2.02 MoM at 11 and 2.44 MoM at 13 completed weeks). At 75% detection, maternal age in combination with ITA and PAPP-A measurements have an 8.0% false-positive rate, slightly lower than the 8.8% found for the free β and PAPP-A combination; adding NT measurements reduces false positives for the 2 combinations to 2.0% and 1.8%, respectively.
Conclusion: Serum ITA appears to be a useful first-trimester Down syndrome marker that could replace free β measurements while maintaining performance.
Factors Affecting Survival and Growth of Juvenile Freshwater Mussels Cultured in Recirculating Aquaculture Systems
Authors: Jones Jess W , Mair Rachel A , Neves Richard J 
Published: June 2005

Abstract
Seasonal differences in glochidial maturity, substrate, and diet were studied to determine how these factors affect the survival and growth of juvenile freshwater mussels. Comparisons were made between juveniles produced in the fall and spring of the year; cultured in sediment, sand, or without substrate; and fed either of two species of small (5–10-μm) green algae. The survival and growth of endangered juveniles of oyster mussel Epioblasma capsaeformis were compared with those of a common, seemingly more robust species, the rainbow mussel Villosa iris. The growth of rainbow mussel juveniles was significantly greater than that of oyster mussel juveniles (P &lt; 0.001). The survival and growth of oyster mussel juveniles were significantly greater when propagated in the spring, that is, when glochidia were mature and would normally be released, than in fall (P &lt; 0.001). Survival and growth of juveniles of both species were significantly greater when they were cultured in a sediment substratum rather than sand or no substratum (P &lt; 0.001). No differences (P &gt; 0.05) were observed in survival and growth of juveniles fed algal species Neochloris oleoabundans or Nannochloropsis oculata. In the spring of the year, juvenile oyster mussels achieved a survival of 29.6% and mean length of 664 μm at 60 d of age, whereas at the same age rainbow mussel juveniles exhibited a survival of 25.1% and a mean length of 1,447 μm.
Enhanced physical education and body fat in the primary school child
Authors: Shephard Roy J. , Lavallée Hugues 
Published: June 2005

AbstractThe influence of 1 hr/day of required physical education upon body skinfold readings was examined in 546 children recruited from an urban and a rural primary school in Québec. Two chorts of experimental students began the enhanced program in grade 1, with immediately preceding and succeeding clases serving as controls. The same observer took nine skinfold readings each year, within 2 weeks of each child's birthday. The data showed a significicant and relatively consistent effect of gender (females 10–19% greater than males, with a slightly larger accumulation on the trunk than on the limbs) throughout the 6 years of observation. There was also a trend to an environmental effect (rural > urban), but the experimental students did not differ significantly from their peers in control classes. It is concluded that the energy expenditure added by even a well‐designed physical education program is insufficient to influence the body fatness of free‐living children. © 1993 Wiley‐Liss, Inc.
Parity, adiposity, and body fat distribution among Hispanic women
Authors: Ness Roberta B. 
Published: June 2005

AbstractThe relationship between parity and body fat distribution was investigated in a sample of 1,590 Mexican American, 411 Cuban American, and 657 Puerto Rican women, aged 20–74 years. Participants were interviewed and examined as part of the Hispanic Health and Nutrition Examination Survey, a cross‐sectional study of a representative sample of Hispanic populations residing in the United States. In each ethnic group, there was an increase with greater parity in overall body fat (body mass index [BMI], or triceps plus subscapular skinfolds), central vs. peripheral skinfold thicknesses (subscapular/triceps ratio), and upper vs. lower body skinfold thicknesses (subscapular/calf ratio). These positive associations remained after adjusting for age, income, marital status, smoking, menopausal status, and education. They were statistically significant only in the Mexican American group. After controlling for the BMI, the association between parity and the subscapular/ calf ratio remained significant in Mexican Americans, suggesting a relationship between parity and upper body fat distribution independent of body size. © 1995 Wiley‐Liss, Inc.
An unusual dysplasia‐malformation‐cancer syndrome in two patients
Authors: Durkin‐Stamm M. Virginia , Gilbert Enid F. , Ganick Dorothy J. , Opitz John M. , Miller Robert W. 
Published: June 2005

AbstractWe report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb‐bud differentiation. Malignant degeneration at 5–7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2‐“mutational” causal model. This is an apparently previously undescribed formal genesis syndrome.
5α‐Reductase activity of genital and nongenital skin fibroblasts from patients with 5α‐reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism
Authors: Pinsky Leonard , Kaufman Morris , Straisfeld Cipia , Zilahi Barbara , Hall Conrad St.‐G. , Opitz John M. 
Published: June 2005

AbstractSerially subcultured fibroblast strains from genital (foreskin, labium majus) skin, as a group, have considerably more steroid (testosterone) 5α‐reductase activity than those from nongenital skin. Foreskin strains varied 40‐fold and labial strains even more. Labial strains overlapped nongenital strains of either sex more frequently than did prepuce strains. The activity of foreskin strains from two siblings with proven 5α‐reductase deficiency was clearly lower than that of any of 18 control strains. The comparative behavior of the various strain types indicates that labial and nongenital strains should not be used to support a clinical suspicion of male pseudohermaphroditism due to 5α‐reductase deficiency.The activities of labial strains from patients with complete androgen insensitivity (testicular feminization) – five with the recptor‐negative variety and two with the receptor‐positive type – were as variable as those of control labial strains. The decreased 5α‐reductase activity observed in fresh skin slices of some patients is probably an expression of their functional estrogen/ androgen imbalance in vivo.
A detailed description of mothers' knowledge before genetic counseling for down syndrome: Part I
Authors: Antely R. M. , Seidenfeld M. J. , Jackson Laird G. 
Published: June 2005

AbstractThis study focuses on counselees' knowledge of the Down syndrome before receiving genetic counseling. Data were collected from 47 mothers of children with the Down syndrome using a structured interview of 13 open‐ended questions. This instrument was found to be both internally reliable and consistent. Results of this study document the enormous variation of counselees' knowledge of the Down syndrome before genetic counseling and show that this is positively associated with their educational background. Counselees with more than a high school education knew about 60% of the genetic information pertaining to the diagnosis before genetic counseling, while those with less than a high school education knew only 23% of this information before counseling. These results indicate that the better educated counselees are less apt to need to learn basic genetic information and may seek out genetic counseling services for other reasons. Possible motives are seeking knowledge confirmation, emotional support, and personalization of the information.
Triplication of chromosome Arm 20p due to inherited translocation and secondary nondisjunction
Authors: Marcus E. S. , Fuller B. , Riccardi V. M. 
Published: June 2005

AbstractA patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of developmental delay that can result from autosomal triplication and the role of nondisjunction as a mechanism for deriving a partial triplication status.
Christ‐Siemens‐Touraine syndrome—a clinical and genetic analysis of a large Brazilian kindred: II. Affected males
Authors: Pinheiro M. , Freire‐Maia N. 
Published: June 2005

AbstractWe describe 13 males with Christ‐Siemens‐Touraine syndrome from one family. History and examination were supplemented by three sweat tests and dermatoglyphic analysis. Some of the patients had two uncommon findings (onychodystrophy and excessive lacrimation), and five had an “incomplete” form of the syndrome. Four signs (distal phalanges of fingers and toes radially and tibially deviated, respectively; facial hypochromic spots; large occipitofrontal circumference) seem to be here described for the first time. The segregation proportion in the sibships with at least an affected male was found to be normal (1:1) in 44 series of data (43 from the literature), where a high ascertainment bias was present ( 155 affected and 68 normal males).
H–Y gene expression in apparent absence of the long arm of the Y chromosome
Authors: Moreira‐Filho Carlos Alberto , Otto Priscilla G. , Frota‐Pessoa Oswaldo 
Published: June 2005

AbstractH‐Y antigen expression was detected on cells from an individual having a presumptive 45,X/46,X,i(Yp) karyotype, but was absent on cells from another person having a 46,X,i(Yq) karyotype. This suggests that the short arm of the human Y chromosome is essential for H‐Y antigen expression, at least in the subjects studied.
Segregation of noisy Mendelian traits and the effect of age‐dependence: A prolegomenon
Authors: Murphy Edmond A. 
Published: June 2005

AbstractA discussion of the primordial confusion between the multiplicative Galtonian (“lognormal”) trait and the imperfectly segregating Mendelian trait is laid out form a probabilitic standpoint. Several criteria used in comparing them (bimodality; bitangentiality; goodness of fit to the multinomialized form of the distribution; cumulants of the distributions) are reviewed and the inadequacy of their probabilistic properties discussed in some detail. The logical asymmetry of the normalized score (“Roberts' correction”) and hence its invalidity as a criterion for distinguishing between the models is pointed out. The form of a mixture of two Gaussian distributions with fixed and equal variances but with differing age‐dependent means (“the Platt model”) is explored. The epistemological implications are exhibited. As a first step to restoring symmetry, a general model is proposed of which these and other models in wide use emerge as special cases. No attempt is made to deal here with the statistical aspects of the problem.
Brief historical note: The concept of “gonadal dysgenesis”
Authors: Opitz John M. , Pallister Philip D. 
Published: June 2005

AbstractThe history of gonadal dysgenesis cautions against overinterpretation of data: The streak gonads are neither the result of dysgenesis nor of embryonic origin but represent late fetal/neonatal degeneration; the X‐chromatin‐negative character of the buccal smear and the frequency of color vision defects did not indicate male sex in the Ullrich‐Turner syndrome but rather an XO constitution; severity of dysgenesis did not correlate with risk of gonadal neoplasia but with genotype; the gonadal lesion in the Ullrich‐Turner syndrome was not due to a pituitary defect but a primary ovarian lesion; patients with the Noonan syndrome do not have the Turner phenotype.The concept of gonadal dysgenesis, introduced by Kermauner in 1912, has outlived its usefulness. Improved methods of phenotype analysis, family studies, and endocrine and cytogenetic methods have shown it to be causally and pathogenetically heterogeneous and have contributed to a better identification and delineation of the several different genetic entities which it formerly comprised.