bluuebunny/crossref_metadata_2025_split huggingface dataset:
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation‐specific PCR
Authors: Mitter Diana , Buiting Karin , von Eggeling Ferdinand , Kuechler Alma , Liehr Thomas , Mau‐Holzmann Ulrike Angelika , Prott Eva‐Christina , Wieczorek Dagmar , Gillessen‐Kaesbach Gabriele 
Published: August 2006

AbstractMaternal uniparental disomy for chromosome 14 [upd(14)mat] is associated with a characteristic phenotype including pre‐ and postnatal growth retardation, muscular hypotonia, feeding problems, motor delay, small hands and feet, precocious puberty and truncal obesity. Patients with upd(14)mat show features overlapping with Prader–Willi syndrome (PWS) and are probably underdiagnosed. Maternal upd(14) is frequently described in carriers of a Robertsonian translocation involving chromosome 14, but is also found in patients with a normal karyotype. Based on the above mentioned criteria we have identified six patients with upd(14)mat including two patients with a normal karyotype, one patient with a de novo Robertsonian translocation (14;21), one patient with a familial Robertsonian translocation (13;14) and two patients with a marker chromosome. In addition, we analyzed a cohort of 33 patients with low birth weight, feeding difficulties and consecutive obesity in whom PWS had been excluded by methylation analysis of SNRPN. In four of these patients (12%) we detected upd(14)mat. For rapid testing of upd(14)mat we analyzed the methylation status of the imprinted MEG3 locus. In conclusion, we recommend considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity as well as in patients with a PWS like phenotype presenting with low birth weight, feeding difficulties and obesity. © 2006 Wiley‐Liss, Inc.
The Helena syndromes
Authors: Neri Giovanni 
Published: August 2006

AbstractThe author gives a personal account on how he was introduced to the field of clinical genetics as a student of John Opitz in Helena, MT. That process was facilitated by the study of several malformation syndromes. Particularly instructive were the approaches to the cardio‐facio‐cutaneous, the Perlman, and the FG syndrome. These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them. © 2006 Wiley‐Liss, Inc.
A previously unreported mutation in a Currarino syndrome kindred
Authors: Wang Raymond Y. , Jones Julie R. , Chen Steve , Rogers R. Curtis , Friez Michael J. , Schwartz Charles E. , Graham John M. 
Published: August 2006

AbstractCurrarino syndrome consists of autosomal dominant hereditary sacral dysgenesis that is caused by mutations of the HOX gene, HLXB9. Sacral malformation, presacral mass, and anorectal malformations comprise the classic triad, but other common symptoms and malformations include neonatal‐onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. Up to 33% of patients are asymptomatic. There is marked inter‐ and intrafamilial variability in expression, and no genotype/phenotype correlations have been identified. To date, 32 different mutations have been identified in HLXB9: all nine missense mutations were found in the homeodomain, while the others were nonsense, frameshift, splice site mutations, or heterozygous whole‐gene deletions. We report a four‐generation family with Currarino syndrome varying in severity from very mild to full expression of the Currarino triad. They were found to carry a previously unreported nonsense mutation, E283X, absent in tested asymptomatic first‐degree relatives. This family provides additional information on the degree of intrafamilial variability associated with HLXB9 mutations. © 2006 Wiley‐Liss, Inc.
Array comparative genomic hybridization analysis in first‐trimester spontaneous abortions with ‘normal’ karyotypes
Authors: Shimokawa Osamu , Harada Naoki , Miyake Noriko , Satoh Kanako , Mizuguchi Takeshi , Niikawa Norio , Matsumoto Naomichi 
Published: August 2006

AbstractArray comparative genomic hybridization (array CGH) analysis was conducted in chorionic villous samples from 20 first‐trimester spontaneous abortions with G‐banding normal chromosomes. A microarray, containing 2,173 BAC clones and covering the whole genome with a 1.5‐Mb resolution, was constructed and used in the analysis. Two deletions were identified: a 1.4‐Mb deletion at 3p26.2‐p26.3 and a 13.7‐Mb deletion at 13q32.3‐qter. Reexamination of chromosome preparations from the sample with the 13.7‐Mb deletion documented a mixture of cells with the 13q‐ chromosome and those with 46,XX chromosomes, the latter of which are likely to have been derived from contaminating decidual cells. This left the 1.4‐Mb 3p deletion as the only instance with submicroscopic imbalance detected, giving a frequency of 1 in 19 (5%) G‐banding normal abortions. © 2006 Wiley‐Liss, Inc.
Impact of neurofibromatosis 1 on Quality of Life: A cross‐sectional study of 176 American cases
Authors: Page Patricia Z. , Page Grier P. , Ecosse Emmanuel , Korf Bruce R. , Leplege Alain , Wolkenstein Pierre 
Published: August 2006

AbstractNeurofibromatosis 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a significant impact on Quality of Life (QoL). There is a wide range of phenotypic variability, so that affected individuals may have either medically devastating or relatively mild manifestations that do not impact their daily lives. In this study, the SF‐36 and Skindex questionnaires were used to quantitatively investigate the impact of severity and visibility on QoL in an American population. Participants were recruited primarily through advertisements distributed by The Children's Tumor Foundation (CTF). The majority participated by completing a mailed questionnaire in which they rated themselves using Ablon's visibility and Riccardi's severity scales, and then completed the SF‐36 and Skindex questionnaires. Participants with NF1 reported a significant impact in all aspects of skin‐disease‐specific QoL, but the emotional aspect demonstrated the greatest effect. Participants with more visible signs of NF1 reported significantly greater overall effects on their skin‐disease‐specific QoL than those whose manifestations were more subtle. All domains of general health QoL were affected as well, especially in participants who reported having severe complications. Interestingly, greater visibility was not found to be associated with a significant decrease in general health QoL. These findings are consistent with those found in a French cohort, and demonstrate the utility of incorporating tools designed for use in both the general population and for patients with skin disease in examining the impact of NF1 on QoL. © 2006 Wiley‐Liss, Inc.
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases
Authors: Striano Pasquale , Malacarne Michela , Cavani Simona , Pierluigi Mauro , Rinaldi Rosanna , Cavaliere Maria Luigia , Rinaldi Maria Michela , De Bernardo Carmelilia , Coppola Antonietta , Pintaudi Maria , Gaggero Roberto , Grammatico Paola , Striano Salvatore , Dallapiccola Bruno , Zara Federico , Faravelli Francesca 
Published: August 2006

AbstractMental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four de novo, one as a result of an unbalanced translocation) and determined the size of the deletion ranging from 3 to 13 Mb. Our patients showed a recognizable phenotype including mental retardation, characteristic facial appearance, and a distinctive clinico‐neuroradiological picture. Focal epilepsy with consistent electroencephalographic features and with certain brain anomalies on neuroimaging studies should suggest 6q terminal deletion. The awareness of the distinctive clinical picture will help in the diagnosis of this chromosomal abnormality. © 2006 Wiley‐Liss, Inc.
Circular dichroism as a reliable tool for anomeric assignment of glycosyl‐2‐phenyl‐2H‐1,2,3‐triazole C‐nucleoside analogs. A rule for prediction of their anomeric configuration
Authors: Sallam Mohammed A. E. 
Published: August 2006

AbstractThe circular dichroism (CD) of a series of acyclic C‐nucleoside analogs; 4‐(pentahydroxypentyl‐1‐yl)‐2‐phenyl‐2H‐1,2,3‐triazoles [1–5] and 4‐(D‐glycero‐D‐gulo)‐2‐phenyl‐2H‐1,2,3‐triazole 6, are reported. A correlation between the sign of the Cotton effect at the maximal UV absorption and the absolute configuration of the carbon atom α‐ to the triazole base moiety is reported. The CD of anomeric 4‐(α,β‐D‐arabinofuranosyl)‐ and 4‐(α,β‐D‐arabinopyranosyl)‐2‐phenyl‐2H‐1,2,3‐triazole C‐nucleosides are reported. The assignment of the anomeric configuration of C‐glycosyl‐2‐phenyl‐2H‐1,2,3‐triazoles from their CD spectra was found to be a simple method that relies on comparison of the sign of the Cotton effect at the maximal UV absorption and the absolute configuration of the anomeric carbon atom. A correlation between the anomeric configuration and the sign of the Cotton effect at the maximal UV absorption is deduced and generalized as a rule for prediction of the anomeric configuration of C‐glycosyl‐2‐phenyl‐2H‐1,2,3‐triazoles. Nuclear Overhauser effect and 13C NMR spectra supported the CD assignment rule. Chirality, 2006. © 2006 Wiley‐Liss, Inc
Stereoselective pharmacokinetics of ornidazole after intravenous administration of individual enantiomers and the racemate
Authors: Chen Yan , Liu Xiao Quan , Zhong Jiao , Zhao Xiaoping , Wang Yongsheng , Wang Guangji 
Published: August 2006

AbstractThe pharmacokinetics of ornidazole (ONZ) were investigated following i.v. administration of racemic mixture and individual enantiomers in beagle dogs. Plasma concentrations of ONZ enantiomers were analyzed by chiral high‐performance liquid chromatography (HPLC) on a Chiralcel OB‐H column with quantification by UV at 310 nm. Notably, the mean plasma levels of (−)‐ONZ were higher in the elimination phase than those of (+)‐ONZ. (−)‐ONZ also exhibited greater t1/2, MRT, AUC0‐t and smaller CL, than those of its antipode. The area under the plasma concentration‐time curve (AUC0‐t) of (−)‐ONZ was about 1.2 times as high as that of (+)‐ONZ. (+)‐ONZ total body clearance (CL) was 1.4 times than its optical antipode. When given separately, there were significant differences in the values of AUC0‐∞ and CL between ONZ enantiomers (P < 0.05), indicating that elimination of (+)‐ONZ was more rapid than that of (−)‐ONZ. No significant differences were found between the estimates of the pharmacokinetic parameters of (+)‐ONZ or (−)‐ONZ, obtained following administration as the individual and as a racemic mixture. This study demonstrates that the elimination of ONZ enantiomers is stereoselective and chiral inversion and enantiomer/enantiomer interaction do not occur when the enantiomers are given separately and as racemic mixture. Chirality, 2006. © 2006 Wiley‐Liss, Inc.
Multiparallel chiral method development screening using an 8‐channel microfluidic HPLC system
Authors: Sajonz Peter , Gong Xiaoyi , Leonard William R. , Biba Mirlinda , Welch Christopher J. 
Published: August 2006

AbstractThe Eksigent Express 800 8‐channel microfluidic HPLC system was investigated for carrying out multiparallel screening and development of fast normal phase chiral separations. In contrast to the familiar automated sequential chiral method development approaches that often afford a next day result, the multiparallel approach offers the exciting possibility of near “real time” method development, often affording an optimized method in less than 1 h. In this study, four column types (300 μm i.d.) with two different mobile phases are screened using a universal standard gradient approach. Interestingly, parallel method optimization following initial screening was shown to sometimes lead to surprising and unanticipated outcomes, emphasizing the value of the multiparallel screening approach. A variety of standard test racemates were analyzed, with optimized separation methods for most in the 1‐ to 2‐min range. These results compare favorably with results obtained on a single channel conventional HPLC system using 4.6‐mm i.d. columns. In addition, isocratic methods developed on the microbore columns are readily translated to the larger column format. Chirality, 2006. © 2006 Wiley‐Liss, Inc.
Use of Triplet Excited States for the Study of Drug Binding to Human and Bovine Serum Albumins
Authors: Vayá Ignacio , Bueno Carlos J. , Jiménez M. Consuelo , Miranda Miguel A. 
Published: August 2006

AbstractThe triplet excited states of (S)‐ and (R)‐flurbiprofen (FBP) have been used as reporters for the microenvironments experienced within the binding sites of human and bovine serum albumins. Regression analysis of triplet decay provides valuable information on the degree of protection that these excited states are afforded from attack by a second FBP molecule, oxygen, or other reagents. The multiexponential fitting of these decays can be satisfactorily correlated with the distribution of the drug among the two binding sites and its presence as the noncomplexed form in the bulk solution. This assignment has been confirmed by using (S)‐ibuprofen or capric acid as selective site II replacement probes. Triplet lifetimes and site occupancy are sensitive to the type of serum albumin employed (human versus bovine). Finally, the binding behaviour of (S)‐ and (R)‐FBP exhibits little stereoselectivity.
Bandwidth correction for LED chromaticity
Authors: Gardner James L. 
Published: August 2006

AbstractThe spectral bandwidth formulae of Stearns and Stearns (Color Res Appl 1988; 13: 257–259) are generalized for an arbitrary slit function. Correction coefficients are derived in terms of moments of the slit function. Application to model LED spectra measured with a compact, fiber‐coupled spectrometer having bandwidth of order 12 nm, and a nonlinear wavelength scale shows that accurate LED color measurements may be obtained with such an instrument. Fitting of the relatively broad slit function to line spectra for accurate wavelength calibration is also described. Such fitting, coupled consistently with the bandpass correction, improves the accuracy color measurements with a broad‐response spectrometer. © 2006 Wiley Periodicals, Inc. Col Res Appl, 31, 374–380, 2006; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/col.20242
Spectral sensitivity of sensors for a color‐image descriptor invariant to changes in daylight conditions
Authors: Romero Javier , Hernández‐Andrés Javier , Nieves Juan Luis , Valero Eva M. 
Published: August 2006

AbstractPrevious authors (J Opt Soc Am A 2000; 17: 1952–1961; J Opt Soc Am A 2001; 18: 253–264) have proposed a pixel‐by‐pixel image descriptor that is invariant to certain changes in illumination. We have studied the possibility of applying such an invariant descriptor to scenery illuminated by natural light, by choosing sensors that allow the invariant to behave satisfactorily under daylight. We obtained different triads of monochromatic sensors by using an exhaustive‐search method and compared the results with those obtained with other triads proposed by different authors. We extended our study to Gaussian sensors centered in the wavelengths considered for the monochromatic sensors and to commercial CCD camera sensors. Satisfactory results are achieved for Gaussian sensors with maximum sensitivities at different locations. © 2006 Wiley Periodicals, Inc. Col Res Appl, 31, 391–398, 2006; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/col20243.
Investigation of human's emotional responses on colors
Authors: Gao Xiao‐Ping , Xin John H. 
Published: August 2006

AbstractThis article investigates human's emotional responses on colors based on a psychophysical experiment. Totally 218 color samples were evaluated by 70 subjects based on 12 basic descriptive variables including “warm–cool,” “weak–strong,” and “dynamic–passive.” By using factor analysis, these 12 variables were split into two orthogonal factors (activity index and potency index) and one correlative factor (definition index), which may be used for description of color emotion. Based on these three indexes, a color emotion map in CIELCH color space was obtained by cluster analysis. A well‐regulated distribution of human's emotion was observed in CIE L*C* plane with a neutral feeling region around the point of chroma C*=30.5 and lightness L*=53.3. Colors scattered at opposite direction of this neutral region possess the opposite feelings. The detailed relationship between color emotion indexes and color perception attributes, i.e., hue, lightness, and chroma, were further studied by correlation analysis and graphical representation. The results indicated that the activity index was dependent on chroma, the potency index was dependent on lightness, and the definition index was dependent on both chroma and lightness. It was also observed that the influence of hue on emotional response was not as significant as those in previous studies even for the variable “warm–cool.” © 2006 Wiley Periodicals, Inc. Col Res Appl, 31, 411–417, 2006; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/col.20246
Influence of wood extractives on the photo‐discoloration of wood surfaces exposed to artificial weathering
Authors: Nzokou Pascal , Kamdem Donatien Pascal 
Published: August 2006

AbstractExtracted and unextracted black cherry (Prunus serotina), red oak (Quercus rubra), and red pine (Pinus resinosa) wood specimens were exposed to artificial weathering, and their discoloration process was investigated to obtain basic understanding on the role of wood extractives in the weathering of hardwoods and softwoods. Color measurements were made with a spectrometer according to ISO 2470 standards, using the CIELAB system. Results obtained showed that the rate of whiteness was not significantly affected by extractives removed with organic solvents, but were significantly affected when organic solvent extraction was followed by water extraction. The total discoloration rate had the same pattern, and chromaticity coordinates were less affected by wood extractives. These results confirm the hypothesis that some extractives contained in wood act as antioxidants and are able to provide some protection to wood surfaces against weathering degradation. However, more work is needed to understand the chemistry and mechanism of action of these extractives so as to develop any practical use for this property. © 2006 Wiley Periodicals, Inc. Col Res Appl, 31, 425–434, 2006; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/col.20248
Preparation of Holographic Gratings of Liquid Crystals Dispersed in Polyurethane Acrylates under Controlled Reaction Conditions
Authors: Kim Eun Hee , Kim Byung Kyu 
Published: August 2006

AbstractTransmission gratings of holographic polymer‐dispersed liquid crystals (HPDLC) are prepared under controlled reaction conditions by adding various amounts of chain‐transfer agent (CTA). The resulting films have a higher gel content with lower cross‐link density, less dark reaction, less grating shrinkage with much smoother LC/polymer interfaces, smaller induction period, and fast saturation of diffraction efficiency, which shows a maximum of 95 % with 1 % CTA. An optimum LC content of 35 % is verified on the basis of morphology and reaction kinetics.
Low cost CD4 enumeration using generic monoclonal antibody reagents and a two‐color user‐defined MultiSET™ protocol
Authors: Pattanapanyasat Kovit , Shain Hla , Prasertsilpa Varipin , Noulsri Egarit , Lerdwana Surada , Eksaengsri Achara 
Published: August 2006

AbstractBackground:The standard three‐tube, three‐color flow cytometric method utilizing the TriTEST™ reagents in conjunction with the MultiSET™ software commonly used in most laboratories in Thailand for CD4 enumeration is expensive and thus unavailable to most HIV‐infected patients. A more affordable method, i.e., the PanLeucogating protocol using only two monoclonal antibody reagents, has been described but requires the use of the CellQUEST™ software that does not have automatic gating and reporting facilities. We describe a simple protocol that utilizes a two‐color user‐defined protocol with the automated MultiSET™ software for the acquisition, analysis, and reporting of CD4 results.Methods:A two‐color user‐defined protocol was set up following instructions in the Becton Dickinson Biosciences MultiSET™ manual, adhering strictly to the information regarding the Gate and Attractor Hierarchy for analyzing various reagent combinations. This simple two‐color user‐defined MultiSET™ software was evaluated using generic monoclonal reagents in comparison with the standard TriTEST™/MultiSET™ protocol.Results:The two‐color user‐defined MultiSET™ software is easy to use. It requires only modification of the original MultiSET™ program and the results obtained are comparable with those derived from the standard TriTEST™/MultiSET™ protocol.Conclusion:The use of this easy and reliable two‐color user‐defined MultiSET™ protocol represents an affordable alternative to CD4 testing in resource‐poor settings. © 2006 International Society for Analytical Cytology
Interactions between mouse IgG2 antibodies are common and mediated by plasma C1q
Authors: Wood Brent L. , Levin Greg R. 
Published: August 2006

AbstractBackground:The simultaneous use of multiple antibodies for multicolor flow cytometry is increasingly common and presents the opportunity for antibody interactions.Methods:Antibodies of differing isotypes were evaluated in pair‐wise combinations for the presence of antibody interactions, using a standard whole blood lysing method or variations thereof.Results:Artifactual interactions were identified and preferentially involved IgG2a (58%) or IgG2b (33%) antibodies and a single IgG1 antibody (3%). The interactions were present in all 10 random peripheral blood samples evaluated and required only whole blood and the two antibodies. Plasma removal prior to antibody incubation eliminated the interaction, as did switching any single IgG2 antibody to an IgG1 clone. Heat‐inactivated plasma eliminated the interactions, and the addition of purified C1q to washed cells was capable of recreating the interaction in its entirety, confirming the mediation by complement C1q.Conclusions:Complement C1q mediates significant interactions between mouse IgG2 class antibodies; these interactions are very common and may be prevented by either complete serum removal or use of alternate IgG1 clones. Such interactions represent a significant potential source of artifact in the use of whole blood lysis methods for specimen preparation for multicolor flow cytometry. © 2006 International Society for Analytical Cytology
Tol2 transposon‐mediated transgenesis in Xenopus tropicalis
Authors: Hamlet Michelle R. Johnson , Yergeau Donald A. , Kuliyev Emin , Takeda Masatoshi , Taira Masanori , Kawakami Koichi , Mead Paul E. 
Published: August 2006

AbstractThe diploid frog Xenopus tropicalis is becoming a powerful developmental genetic model system. Sequencing of the X. tropicalis genome is nearing completion and several labs are embarking on mutagenesis screens. We are interested in developing insertional mutagenesis strategies in X. tropicalis. Transposon‐mediated insertional mutagenesis, once used exclusively in plants and invertebrate systems, is now more widely applicable to vertebrates. The first step in developing transposons as tools for mutagenesis is to demonstrate that these mobile elements function efficiently in the target organism. Here, we show that the Medaka fish transposon, Tol2, is able to stably integrate into the X. tropicalis genome and will serve as a powerful tool for insertional mutagenesis strategies in the frog. genesis 44:438–445, 2006 Published 2006 Wiley‐Liss, Inc.