bluuebunny/crossref_metadata_2025_split huggingface dataset:
‐GγAγ‐thalassemia and γ‐chain variants in chinese newborn babies
Authors: Zeng Yi‐Tao , Huang Shu‐Zheng , Nakatsuji T. , Huisman T. H. J. 
Published: October 2008

AbstractThe occurrence of γ‐chain abnormal hemoglobins and of γ‐thalassemia in Chinese newborns was evaluated through analyses of the Hb F of over 1,100 babies and of the DNA from one baby and his parents. Gene mapping data identified this baby as a homozygote for ‐GγAγ‐thalassemia, which is caused by a deletion of about 5 kb due to an unequal crossing‐over between the ‐Gγ‐ and ‐Aγ‐ genes. This condition is the same as that observed in Indian and Japanese babies [2,3]. Its gene frequency among babies from the Shanghai area was 0.012. A previously unrecognized Gγ chain variant, Hb F‐Shanghai or α2Gγ266(E10)Lys→Arg, was observed in one newborn. This variant was not detected by conventional techniques but only by high performance liquid chromatography, as the Gγ66 Lys and Gγ66 Arg chains had slightly different chromatographic mobilities. Lys at position γ66 participates in contacts with the heme group, and its substitution by another amino acid residue might interfere with physiochemical and/or functional properties. No other γ‐chain variants have been detected except the well‐known AγT or F‐Sardinia chain (f.AγT = 0.076).
Gene mapping of malaysian α thalassemias with α and ζ globin gene probes
Authors: Lie‐Injo Luan Eng , Herrera Alex R. , Lebo Roger V. , Hassan Khalid , Lopez Cynthia G. 
Published: October 2008

AbstractRestriction enzyme analysis of the α and ζ globin genes was carried out in four cases of Hb Bart's hydrops fetalis, in three patients with Hb H disease without Hb CoSp, in three patients with Hb H disease with Hb CoSp, in 47 individuals with α thalassemia trait, and in 47 normal individuals. All four cases of Hb Bart's hydrops fetalis resulted from deletions of α1 and α2 globin genes which did not extend to the ψζ1 and ζ2 globin genes. The same type of deletion was observed in α thal1 carriers, but two newborns (one Malay and one of Chinese extraction) had a nondeletion type of α thal1 which was confirmed by quantitative αglobin gene analysis. In addition, two other newborns diagnosed as α thal1 trait carriers (one Malay, one Chinese) were shown to have a deletion of both α globin genes by quantitative α globin gene analysis, but further testing with ζ globin gene probe failed to reveal an abnormal fragment length characteristic of an α globin gene deletion. We believe that this last condition is due to a large deletion which includes all α globin genes and all ζ globin genes on the same chromosome. On another front, Bgl II restriction analysis of all four Hb Bart's hydrops fetalis cases and the α thal1 trait carriers showed a 10.5‐kb Bgl II restriction fragment, in the hydrops fetalis as a single band, while in the carriers this 10.5‐kb fragment was accompanied by the usual normal 12.5‐kb and 11.3‐kb fragments. We report that this 10.5‐kb fragment, previously thought to be specific for the Southeast Asian α thal1 gene deletion, is also common in normal individuals. Nevertheless, digestion with other enzymes can clearly differentiate the α thal1 and normal genotypes. We distinguish the findings in the α thalassemias from the extensive DNA polymorphism in the region of the α and ζ globin genes.
Bronchiolitis obliterans after bone marrow transplantation
Authors: Rosenberg Mark E. , Vercellotti Gregory M. , Snover Dale C. , Hurd David , McGlave Philip 
Published: October 2008

AbstractBronchiolitis obliterans occurred in the setting of chronic graft‐versus‐host disease 1 year after allogeneic bone marrow transplantation for chronic myelogenous leukemia. The severe obstructive pulmonary disease followed an episode of interstitial pneumonitis. The etiology and possible relationship to graft‐versus‐host disease of this rare pulmonary lesion following bone marrow transplantation are discussed.
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
Authors: Dimmock David P. , Trapane Pamela , Feigenbaum Annette , Keegan Catherine E. , Cederbaum Stephen , Gibson James , Gambello Michael J. , Vaux Keith , Ward Patricia , Rice Gregory M. , Wolff Jon A. , O'Brien William E. , Fang Ping 
Published: October 2008

AbstractExpanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we compared the clinical, biochemical, and molecular features of 10 patients with mildly elevated citrulline levels. Three patients presented with clinical illness whereas seven came to attention as a result of expanded newborn screening. One patient presented during pregnancy and responded promptly to IV sodium phenylacetate/sodium benzoate and arginine therapy with no long‐term adverse effects on mother or fetus. Two children presented with neurocognitive dysfunction, one of these responded dramatically to dietary protein reduction. ASS enzyme activity was not deficient in all patients with biallelic mutations suggesting this test cannot exclude the ASS1 locus in patients with mildly elevated plasma citrulline. Conversely, all symptomatic patients who were tested had deficient activity. We describe four unreported mutations (p.Y291S, p.R272H, p.F72L, and p.L88I), as well as the common p.W179R mutation. In silico algorithms were inconsistent in predicting the pathogenicity of mutations. The cognitive benefit in one patient of protein restriction and the lack of adverse outcome in seven others restricted from birth, suggest a role for protein restriction and continued monitoring to prevent neurocognitive dysfunction. © 2008 Wiley‐Liss, Inc.
A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST
Authors: Panzer K.M. , Lachman R. , Modaff P. , Pauli R.M. 
Published: October 2008

AbstractWe describe a child whose original clinical and radiologic manifestations led to a diagnosis of Desbuquois dysplasia. Subsequent development of features including cervical kyphosis and cystic ears caused us to reconsider the original diagnosis. The new complement of features in this patient fell in a range between Desbuquois dysplasia and diastrophic dysplasia. Molecular testing showed that she is a compound heterozygote for mutations in the diastrophic dysplasia sulfate transporter gene (DTDST). This finding confirms that there is locus heterogeneity in apparent Desbuquois dysplasia. It also expands the phenotypic spectrum of disorders caused by mutations in DTDST. © 2008 Wiley‐Liss, Inc.
Carnitine‐palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening
Authors: Illsinger Sabine , Lücke Thomas , Peter Michael , Ruiter Jos P.N. , Wanders Ronald J.A. , Deschauer Marcus , Handig Ingrid , Wuyts Wim , Das Anibh M. 
Published: October 2008

AbstractWe report on a newborn male, born at term after an uneventful pregnancy presenting with a pathological acylcarnitine profile in routine newborn screening on the third day of life. The profile showed characteristic elevations of C14:0‐, C16:0‐, C16:1‐ and C18:1‐acylcarnitines, while the ratio of (C16 + C18:1)/C2 was increased, suggesting CPT2‐ or carnitine‐acylcarnitine‐translocase‐ deficiency. The acylcarnitine profile in blood taken on day 9 was normal with breast milk feeding. No dicarboxylic aciduria was found. In fibroblasts, the activity of CPT2 was decreased to 25%, overall oxidation of the long‐chain fatty acids was reduced to 10% of control values. Sequence analysis of the CPT2 gene showed heterozygosity for two previously undescribed mutations in exon 4: c.748‐749delAA (truncating), and c.1436A > G (p.Tyr479Cys; missense) mutations. The asymptomatic parents were found to be heterozygous, the mother carries the c.748‐749delAA and the father the c.1436A > G mutation. The boy is now 2.5 years old; no clinical symptoms associated with the marked impairment of long‐chain fatty acid oxidation have occurred. Confirmation of mitochondrial fatty acid oxidation defects from an initial abnormal newborn‐screening by tandem mass spectrometry should include enzyme and, if possible, molecular genetic analysis despite a normal 2nd screening. Biochemical testing of urine (organic acids) may be unrevealing. © 2008 Wiley‐Liss, Inc.
Comment on prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population
Authors: Duchaine Bradley 
Published: October 2008

AbstractKennerknecht et al. [Kennerknecht et al. (2008); Am J Med Genet Part A 146A] estimate that 1.9% of the Chinese population are hereditary prosopagnosics. I discuss concerns about their assumption that the great majority of prosopagnosia resulting from developmental problems are heritable and present data from my laboratory that suggests that a considerable proportion of developmental prosopagnosics do not have relatives who share their face recognition deficits. © 2008 Wiley‐Liss, Inc.
Multistep analysis of the mechanical performance of an air spring
Authors: Fengxiang Li , Yumei Ding , Hua Yan , Changfeng Guan , Weimin Yang 
Published: October 2008

AbstractNew methods for testing air springs have received a lot of interest in recent years. In this article APDL (ANSYS parametric design language) was utilized to simulate static and dynamic test process of air springs. In the simulation, multiple load steps solution was carried out through APDL *DO‐LOOP and array parameter method. The program (capsule volume calculating macro) based on scatter sum method enabled the loop. The scalar quantity PRESSURE was established as inner tracking parameter to update inner pressure. Table parameter PRESSURES was established as inner pressure output parameter to export inner pressure of each load step. According to rubber elastic behavior and cord‐rubber composite aeolotropy, hyper elastic element and layer element were preferred for simulation. Comparison was done between static simulation results and corresponding test data to prove feasibility of multistep analysis. In consequence, some major parameters such as cord angle, initial inner pressure, and auxiliary chamber volume were taken into account, which have remarkable effect on static mechanical performance of EQ6111 air spring. Finally, the same method was applied to the simulation of dynamic test process, achieving abundant analysis results according to every 0.5 Hz increment of load frequencies varying from 0.5 to 2.5 Hz. Load frequency threw remarkable effect on the dynamic mechanical performance of EQ6111 air spring, because inertial effect and damping effect played important roles therein. The study aims to make contribution to the development of platform of air spring simulation and parameterized design (PASSPD). © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
On the Probability of Correct Selection for Large k Populations, with Application to Microarray Data
Authors: Cui Xinping , Wilson Jason 
Published: October 2008

AbstractOne frontier of modern statistical research is the problems arising from data sets with extremely large k (>1000) populations, e.g. microarray and neuroimaging data. For many such problems the focus shifts from testing for significance to selecting, filtering, or screening. Classical Ranking and Selection Methodology (RSM) studied the probability of correct selection (PCS). PCS is the probability that the “best” (t = 1) of k populations is truly selected, according to some specified criteria of best. This paper extends and adapts two selection goals from the RSM literature that are suitable for large k problems (d ‐best and G ‐best selection). It is then shown how estimation of PCS for selecting multiple (t > 1) populations with d ‐best and G ‐best selection can be implemented to provide a useful measure of the quality of a given selection. A simulation study and the application of the proposed method to a benchmark microarray data set show it is an effective and versatile tool for assessing the probability that a particular gene selection or gene filtering step truly obtains the best genes. Moreover, the proposed method is fully general and may be applied to any such extremely large k problem. (© 2008 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
An Investigation on Performance of Significance Analysis of Microarray (SAM) for the Comparisons of Several Treatments with one Control in the Presence of Small‐variance Genes
Authors: Lin D. , Shkedy Z. , Burzykowski T. , Ion R. , Göhlmann H. W. H. , Bondt A. De , Perer T. , Geerts T. , Van den Wyngaert I. , Bijnens L. 
Published: October 2008

AbstractOne of multiple testing problems in drug finding experiments is the comparison of several treatments with one control. In this paper we discuss a particular situation of such an experiment, i.e., a microarray setting, where the many‐to‐one comparisons need to be addressed for thousands of genes simultaneously. For a gene‐specific analysis, Dunnett's single step procedure is considered within gene tests, while the FDR controlling procedures such as Significance Analysis of Microarrays (SAM) and Benjamini and Hochberg (BH) False Discovery Rate (FDR) adjustment are applied to control the error rate across genes. The method is applied to a microarray experiment with four treatment groups (three microarrays in each group) and 16,998 genes. Simulation studies are conducted to investigate the performance of the SAM method and the BH‐FDR procedure with regard to controlling the FDR, and to investigate the effect of small‐variance genes on the FDR in the SAM procedure. (© 2008 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Correlates and effect of suboptimal radiotherapy in women with ductal carcinoma in situ or early invasive breast cancer
Authors: Gold Heather Taffet , Do Huong T. , Dick Andrew W. 
Published: October 2008

AbstractBACKGROUND.The study aimed to identify factors associated with less‐than‐optimal radiotherapy (RT) and its impact on disease‐free survival in women aged 66+ years diagnosed with stage I breast cancer or ductal carcinoma in situ (DCIS).METHODS.The subjects were women diagnosed from 1991 to 1999 in the linked Surveillance, Epidemiology, and End Results (SEER)‐Medicare database who underwent breast‐conserving surgery and RT within 12 months postdiagnosis. The authors conducted descriptive and multivariate survival analyses, and considered age, race, poverty, marital status, comorbidity indices, rural/urban, radiation oncologist density, comedo necrosis histology (DCIS only), chemotherapy receipt (stage I only), and RT completion (3+ weeks of treatment) and delay (8+ weeks postsurgery without chemotherapy; 4+ weeks postchemotherapy).RESULTS.Of 7791 subjects, 16% experienced RT delay, and 3% had incomplete RT. Subjects with stage I disease who were more likely to delay RT were of black race (odds ratio [OR], 1.56; 95% confidence interval [CI], 1.17‐2.08), whereas women in areas of high radiation oncologist density were less likely to delay (OR, 0.73; 95% CI, 0.66‐0.81). Those living in high poverty areas were less likely to complete RT (P < .03), as were those undergoing chemotherapy (OR, 1.82; 95% CI, 1.15‐2.88). Stage I breast cancer patients with delayed RT were more likely to experience a subsequent breast event (OR, 1.14; 95% CI, 1.00‐1.30), and those with incomplete RT had a higher rate of overall mortality (OR, 1.32; 95% CI, 1.06‐1.63). Factors associated with lower subsequent breast events included older age, lower poverty, and being married. RT delays of 12+ weeks (or 8+ weeks postchemotherapy) had a strongly negative impact on subsequent events (OR, 3.94; 95% CI, 2.51‐6.17 for DCIS; OR, 2.77; 95% CI, 1.84‐2.59 for stage I).CONCLUSIONS.RT should be facilitated to ensure completion and timeliness, especially for early invasive breast cancer patients. Cancer 2008. © 2008 American Cancer Society.
“Deutsches Gütesiegel Nachhaltiges Bauen” – Herausforderungen für den Mauerwerksbau
Authors: Graubner Carl‐Alexander , Schneider Carmen 
Published: October 2008

AbstractDie Einführung des vom Bundesministerium für Verkehr Bau und Stadtentwicklung (BMVBS) vergebenen “Deutschen Gütesiegels Nachhaltiges Bauen” steht kurz bevor. Schon im Januar 2009 sollen im Rahmen der Nachhaltigkeitszertifizierung durch das BMVBS die ersten Zertifikate überreicht werden. Das in Zusammenarbeit von Wissenschaft und Praxis erstellte Zertifizierungssystem, an dem die Autoren an führender Stelle mitgewirkt haben, soll in einem ersten Schritt zur wissenschaftlichen Beurteilung der Nachhaltigkeit von neu errichteten Büro‐ und Verwaltungsgebäuden eingesetzt werden (siehe [1]). Eine Anpassung an weitere Gebäude‐ und Nutzungsarten sowie die Erweiterung auf Gebäude im Bestand kann nach Durchführung weiterer Entwicklungsaufgaben zeitnah folgen. Im Sinne einer ganzheitlichen Gebäudeperformance steht die gleichwertige Berücksichtigung ökologischer, ökonomischer, technischer, sozialer und funktionaler Qualitäten über den Lebenszyklus eines Bauwerks im Zentrum der Zertifizierung. Ergänzend dazu werden detaillierte Informationen zur Prozessqualität und zur Qualität des Standortes berücksichtigt. In Phase 1 der Einführung des Systems werden zur Abbildung der kennzeichnenden Gebäudeeigenschaften 53 Einzelkriterien herangezogen, welche in 6 Hauptkriteriengruppen geclustert sind.Die Nachhaltigkeitszertifizierung wird das Baugeschehen positiv beeinflussen. Zukunftsfähige Eigenschaften von Bauwerken werden identifiziert, gefördert und durch angemessene Beurteilungen prämiert. Aus den resultierenden Anforderungen ergeben sich Herausforderungen für alle am Bau Beteiligten. Gegenstand des vorliegenden Fachartikels ist die Untersuchung und Beurteilung der durch die Zertifizierung speziell für den Mauerwerksbau entstehenden Chancen, Potenziale und Risiken.
Einschalige Außenwände mit hinterlüfteten Außenwandbekleidungen
Authors: Prepens Manfred 
Published: October 2008

AbstractAußenwände mit Wärmedämmung und vorgehängter hinterlüfteter Bekleidung bieten sowohl in gestalterischer als auch in bauphysikalischer Hinsicht viele Möglichkeiten moderner Fassadengestaltung. Die Wandscheibe aus KS‐Mauerwerk übernimmt raumabschließende und tragende Funktion, die Wärmedämmschicht den Wärmeschutz, die Bekleidungen die Gestaltungsfunktion und den Witterungsschutz. Andere Elemente wie z. B. Photovoltaikelemente können harmonisch in die Fassade eingepasst werden. Der Beitrag bezieht sich auf Kalksandstein‐Mauerwerk, die Ausführungen gelten i. W. auch für anderes Mauerwerk.
Energieeinsparung mit Kalksandstein‐Konstruktionen
Authors: Meyer Günter 
Published: October 2008

AbstractIm Hinblick auf die Meseberger Beschlüsse [1] der Bundesregierung, die Vorschriften der Energieeinsparverordnung (EnEV) mehrfach zu verschärfen – erstmals 2009 um 30 % bis hin zur Absicht, in 2020 ohne fossile Brennstoffe im Neubaubereich auszukommen – kommen neue Herausforderungen auf die Bauwirtschaft und damit auch auf die Kalksandsteinindustrie zu. Wegen des seit Jahrzehnten eingeführten Kalksandstein‐Bausystems mit der “KS‐Funktionswand” schrecken höhere Anforderungen aber nicht, weil bereits heute praktisch jeder denkbare Wärmeschutz mit der Funktionswand realisierbar ist. Wichtiger ist, dass sich die vorgesehenen Maßnahmen für den Investor “rechnen” müssen. Ein Nachweis der Wirtschaftlichkeit neuer Anforderungen muss auch zukünftig erforderlich bleiben. Nachteilig wirkt sich aus, dass Fördermaßnamen des Bundes überwiegend in die Anlagentechnik (und damit zu wesentlichen Teil en ins Ausland gehen [2]), während Innovationen der bautechnischen Seite bestenfalls indirekt belohnt werden. Hier wird deutlich, dass sich die seit Jahrzehnten eingeführte Praxis der Austauschbarkeit von bau‐ und anlagentechnischen Maßnahmen zur Energieeinsparung nachteilig auswirkt.Energiesparender Wärmeschutz, Wärmespeicherung (Hitzeschutz), Tragfähigkeit und Schallschutz sind keine Widersprüche, wenn nach dem Prinzip der “KS‐Funktionswand” gebaut wird. Es ist darauf hinzuweisen, dass dieses Konstruktionsprinzip auf der hohen Rohdichte des tragenden KS‐Mauerwerks basiert. Wettbewerber, die das Konstruktionsprinzip “Funktionswand” anwenden wollen, können die Summe der Vorteile, die sich aus einer hohen Rohdichte für Schallschutz, Brandschutz, Tragfähigkeit und Hitzeschutz ergeben, nicht ohne Weiteres erbringen.Zur Wirtschaftlichkeit energiesparender Maßnahmen ist zu beachten, dass die nach Energieeinsparverordnung (EnEV) [3] zu verwendende Zielgröße “Primärenergiebedarf” (QP) kein Maßstab für die Wirtschaftlichkeit ist – ebenso wenig wie die im Sinne des Klimaschutzes geforderte Zielgröße “Minimierung von CO2‐Emissionen“. Ausschlaggebend für jeden Investor und Mieter ist die Minimierung der Energiekosten, und die sind nur abhängig vom Endenergiebedarf (QE) und den Kosten für die jeweils eingesetzten Energieträger – also Öl, Gas, Strom etc. Die von der Bundesregierung angestrebte Reduktion von Treibhausgasen wird unter der Voraussetzung unterstützt, dass die vorgeschlagenen Maßnahmen wirtschaftlich sind. Zu diesem Aspekt sollen einige Hinweise gegeben werden, die sich auf Wohngebäude beschränken.
Energieeffizienz im Gebäudebestand – die neue EnEV
Authors: Kümmel Julian 
Published: October 2008

AbstractBauen im Bestand ist eine anspruchsvolle Aufgabe für alle am Bau Beteiligten. Maßnahmen wie Sanierungen, Modernisierungen, Instandsetzungen, Umbauten und Erweiterungsbauten machen zwischenzeitlich mehr als die Hälfte des Bauvolumens im Hochbau aus. Und sie sind oft weit mehr als eine reine Reparatur: Sie tragen zur Werterhaltung oder sogar zur Wertsteigerung der jeweiligen Objekte bei. Energetische Optimierungen führen zur Senkung der Energiekosten und leisten einen Beitrag zum Umweltschutz. Gerade im Bestand gibt es diesbezüglich große Potentiale. Werden Maßnahmen im Bestand durchgeführt, so ist seit Februar 2002 die Energieeinsparverordnung (EnEV) anzuwenden. Die EnEV wurde überarbeitet, um die europäische Richtlinie über die Gesamtenergieeffizienz von Gebäuden in deutsches Recht umzusetzen. Zwar waren weite Bereiche bereits abgedeckt, zur vollständigen Umsetzung wurden jedoch zusätzliche Aspekte in die Verordnung aufgenommen. Dies betrifft insbesondere Energieausweise für den Gebäudebestand, den Aushang von Energieausweisen in öffentlichen Gebäuden, die Berücksichtigung von Klimaanlagen und die Pflicht, bei Gebäuden mit einer Nutzfläche von über 1000 m2 zu prüfen, inwieweit alternative Energiesysteme eingesetzt werden können. Neben strukturellen und begrifflichen Anpassungen ist die getrennte Betrachtung von Wohn‐ und Nichtwohngebäuden eine wesentliche nderung.Seit 1. Oktober 2007 ist die neue EnEV gültig. Im Folgenden werden die Neuerungen, die sich aus der Überarbeitung der EnEV für das Bauen im Bestand ergeben, aufgeführt.
De novo DNA methylation independent establishment of maternal imprint on X chromosome in mouse oocytes
Authors: Chiba Hatsune , Hirasawa Ryutaro , Kaneda Masahiro , Amakawa Yuko , Li En , Sado Takashi , Sasaki Hiroyuki 
Published: October 2008

AbstractIn female mouse embryos, the paternal X chromosome (Xp) is preferentially inactivated during preimplantation development and trophoblast differentiation. This imprinted X‐chromosome inactivation (XCI) is partly due to an activating imprint on the maternal X chromosome (Xm), which is set during oocyte growth. However, the nature of this imprint is unknown. DNA methylation is one candidate, and therefore we examined whether disruptions of the two de novo DNA methyltransferases in growing oocytes affect imprinted XCI. We found that accumulation of histone H3 lysine‐27 trimethylation, a hallmark of XCI, occurs normally on the Xp, and not on the Xm, in female blastocysts developed from the mutant oocytes. Furthermore, the allelic expression patterns of X‐linked genes including Xist and Tsix were unchanged in preimplantation embryos and also in the trophoblast. These results show that a maternal disruption of the DNA methyltransferases has no effect on imprinted XCI and argue that de novo DNA methylation is dispensable for Xm imprinting. This underscores the difference between imprinted XCI and autosomal imprinting. genesis 46:768–774, 2008. © 2008 Wiley‐Liss, Inc.