bluuebunny/crossref_metadata_2025_split huggingface dataset:
Preimplantation genetic diagnosis of human congenital heart malformation and Holt–Oram syndrome
Authors: He Jie , McDermott Deborah A. , Song Yan , Gilbert Fred , Kligman Isaac , Basson Craig T. 
Published: March 2004

AbstractHolt–Oram syndrome (HOS) is a multiple malformation syndrome associated with congenital heart malformation (CHM) and caused by mutations in the TBX5 transcription factor. Effective prenatal genetic diagnosis of HOS is limited by factors that modify clinical manifestations and confound prediction of an individual's phenotype. Although preimplantation genetic diagnosis (PGD) has been applied to complex disorders with some cardiovascular manifestations, its utility in Mendelian CHM has not been previously demonstrated. We tested whether PGD and in vitro fertilization (IVF) technology, including oocyte donation, can identify fertilized eggs affected by HOS for potential embryo selection. Five donor oocytes were fertilized in vitro with sperm from a HOS patient heterozygous for a Glu69ter‐TBX5 mutation and then underwent embryo biopsy and genotyping. One carried the Glu69ter‐TBX5 mutation; all others had wildtype genotypes. Two wildtype blastocysts were transferred to the mother, and the resulting singleton pregnancy was successfully delivered. Mutational analysis of fetal amniocytes and postpartum umbilical cord blood confirmed PGD. Fetal ultrasonography as well as postpartum electrocardiography and echocardiography also validated accurate prediction of normal skeletal and cardiac phenotypes. We conclude that PGD is an effective reproductive strategy for HOS patients. As more genetic etiologies for CHM are identified, application of PGD as adjunctive therapy to IVF will be increasingly available to prevent transmission of such diseases from affected parents to their children. Clinical application of PGD must balance the benefits of avoiding disease transmission with the medical risks and financial burdens of IVF. © 2003 Wiley‐Liss, Inc.
Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome
Authors: Shoo Brenda A. , McPherson Elizabeth , Jabs Ethylin Wang 
Published: March 2004

AbstractTreacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed. This syndrome can result from TCOF1 gene mutations. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS. This same mutation was found in the clinically unaffected mother's leukocytes, hair root bulbs, buccal mucosa, urine, and stool. The mother has a clinically unaffected child and the maternal grandparents do not have the mutation. Because the mother has the mutation in cells derived from all three germ layers, we suspected the mutation was nonpenetrant. However, we could not detect the mutation in her skin fibroblasts, suggesting she is mosaic secondary to cell type specific selection. © 2003 Wiley‐Liss, Inc.
Recurrence risk of preeclampsia in twin and singleton pregnancies
Authors: Trogstad Lill , Skrondal Anders , Stoltenberg Camilla , Magnus Per , Nesheim Britt‐Ingjerd , Eskild Anne 
Published: March 2004

AbstractThe etiology of preeclampsia is unknown. The relatively high risk of recurrence of preeclampsia in subsequent pregnancies to the same mother suggests a genetic basis for the disease, but the mode of inheritance is uncertain. We compare the risk of preeclampsia in second pregnancies for mothers whose first preeclamptic pregnancy was either a singleton or a twin pregnancy. The crude and adjusted recurrence risks of preeclampsia in twin and singleton pregnancies were estimated in a population‐based register including the first and second pregnancies of 550,218 women registered in the Medical Birth Registry of Norway, 1967–1998. The recurrence risk of preeclampsia in second pregnancy for women with a singleton pregnancy with preeclampsia the first time was 14.1% (95% CI: 13.6–14.6). For women with a first time twin pregnancy the recurrence risk was lower, 6.8% (CI: 4.3–10.1), P < 0.001. Thus, the crude excess risk for recurrent preeclampsia was 7.3% (95% CI: 4.5–10.0) in women with a first time singleton as compared to women with a first time twin pregnancy. The recurrence risk of preeclampsia is lower when the first pregnancy was a twin as compared to a singleton pregnancy. This observation is consistent with a polygenic liability model. © 2003 Wiley‐Liss, Inc.
Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
Authors: Giuliano Fabienne , David Albert , Edery Patrick , Sigaudy Sabine , Bonneau Dominique , Cormier‐Daire Valérie , Philip Nicole 
Published: March 2004

AbstractMacrocephaly‐cutis marmorata telangiectatica congenita (M‐CMTC) is a recently described multiple congenital anomaly/mental retardation (MCA/MR) syndrome of unknown cause. This condition is easily recognizable at birth in children with macrocephaly, cutis marmorata, face and/or body segmental overgrowth, toe syndactyly, midface capillary malformation, and hemimegalencephaly. Cutis marmorata may be absent in some cases. Most patients are developmentally delayed. We describe seven new patients, including two with unusual cerebral manifestations and severe outcome. One of two had a complex congenital heart defect (CHD) and died in the neonatal period. Brain magnetic resonance imaging (MRI) showed generalized cortical dysplasia. The other patient had a stroke episode at age 14 years. Cerebral arteriography showed an abnormal vascular pattern. These findings are consistent with the fact that M‐CMTC is a generalized vasculopathy. © 2003 Wiley‐Liss, Inc.
A novel type of autosomal recessive syndactyly: Clinical and molecular studies in a family of Pakistani origin
Authors: Malik Sajid , Arshad Muhammad , Amin‐ud‐Din Muhammad , Oeffner Frank , Dempfle Astrid , Haque Sayedul , Koch Manuela C. , Ahmad Wasim , Grzeschik Karl‐Heinz 
Published: March 2004

AbstractNon‐syndromic syndactylies have been classified into five major types (I–V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI–VIII) were defined. Type VII, the Cenani–Lenz syndactyly, is the only non‐syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio‐ulnar fusion. Here, we present a Pakistani family with a novel non‐syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani–Lenz syndactyly, the phenotype segregating in our family is the second well‐documented autosomal recessive, non‐syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34‐q36, 2q31, and 6q22‐q23 encompassing loci for syndactyly types I, II, and III. © 2003 Wiley‐Liss, Inc.
Goethe's bone and the beginnings of morphology
Authors: Opitz John M. 
Published: March 2004

AbstractBiologyas a discipline per se and its agenda, seems not to have been burdened from its beginnings as heavily with neo‐Platonism as its subspecialtymorphology, conceptualized at the same time by Goethe and Burdach. One of the reasons may have been that biologists were then regarded as “mere” naturalists, “doing” anatomy and embryology, breeding, and field work (as did Darwin, Wallace, Bateson and a legion of others during the 19th century), whereas the, perhaps more elitist, morphologists,ab initiodevoted themselves to the origin, even to the Kantian analysis ofcausesof development and its variability within and between species. Since Goethe included abnormal plant development in his studies, his definition ofmorphology as the science of the form, formation and transformationof living organisms may be modified to include the concept ofmalformation, although the embryological and comparative analysis of vertebrate/mammalian malformation had its real inception somewhat later with the younger Meckel. In view of the meaning attached by his French contemporaries to the termtransformisme(eventually defined as evolution) one would err considering Goethe as a prophet of “descent;” he was not, referring primarily to the continuous state of flux of living beings. Nonetheless, Goethe and Burdach independently coined the concept of morphology and set its agenda, increasingly freed ofNaturphilosophie, an agenda that dominated 19th century biology but which did not come to fruition in its causal analysis of form and its formation until the 20th century, after Mendel, Darwin and the pioneers of experimental embryology (a.o., Roux, Driesch, Spemann, Vogt). In his discovery of the intermaxillary bone in humans (Goethe's bone), he had a startling insight, against conventional wisdom, into the anatomical, hence developmental, similarity of primate/mammals. During his lifetime, this was still calledanalogieby his great French contemporary Etienne Geoffroy St‐Hilaire who actually meant what Owen later called homology which became one of Darwin's most powerful arguments for descent. A case of a pearl found by a blind chicken? Definitely not; Goethe had his nose far too close to the ground to have missed any of the major intellectual trends in the “life‐sciences” in the late 18th/early 19th century; but, he was too much of an amateur to have had the kind of insights of grand plans granted to von Baer, Mendel and Darwin. © 2004 Wiley‐Liss, Inc.
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease
Authors: Tredano Mohammed , Griese Matthias , Brasch Frank , Schumacher Silja , Blic Jacques de , Marque Stéphanie , Houdayer Claude , Elion Jacques , Couderc Rémy , Bahuau Michel 
Published: March 2004

AbstractPulmonary surfactant protein C (SP‐C) is a highly hydrophobic peptide produced by type‐II alveolar cells through the processing of a high‐molecular weight precursor (pro‐SP‐C), that enhances surface tension and facilitates the recycling of pulmonary surfactant in vitro. Recently, two seemingly dominant‐negative mutations of the pro‐SP‐C‐encoding gene (SFTPC, MIM 178620), were reported in families with vertically‐inherited interstitial lung disease (Nogee et al. [2001: N Engl J Med 344:573–579]; Thomas et al. [2002: Am J Respir Crit Care Med 165:1322–1328]). We have examined the SP‐C protein and its precursor as well as the encoding gene, in a cohort of 34 sporadic or familial cases with unexplained respiratory distress (URD) in which surfactant protein B (SP‐B) deficiency related to SFTPB mutation had been ruled out. One patient with complete SP‐C deficiency had no detectable mutation of SFTPC. Of the 10 patients with abnormal pro‐SP‐C processing, as suggested from analysis of broncho‐alveolar lavage (BAL) fluid, two distinct heterozygous SFTPC missense mutations were identified. The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra‐alveolar storage of a granular, protein‐ and lipid‐rich, periodic acid Schiff (PAS)‐positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease. The second, g.2125G > A (p.R167Q), was found in two PAP patients from the endogamous white settler population of Réunion Island in which URD has an unexpectedly high prevalence. Since this mutation was diagnosed in subjects from this subpopulation who did not have evidence for lung disease, we propose environmental exposures or modifier genes to play a role in the phenotype, as suggested from murine models lacking the SP‐C protein, although we cannot rule out a rare polymorphism, hitherto restricted to that subpopulation. Most remarkably, these observations extend the phenotypic spectrum related to SFTPC mutation from interstitial lung disease to PAP. Notably, the reported mutations do not appear to be dominant negatives. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148‐7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.
A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a paracentric inversion
Authors: Collinson Morag N. , Roberts Siân E. , Crolla John A. , Dennis Nicholas R. 
Published: March 2004

AbstractWe reascertained a family in which first cousins were affected by Angelman syndrome and Prader–Willi syndrome. A paracentric inversion of 15q11‐q15 had previously been reported in this family but we show, using fluorescence in situ hybridization (FISH), that the rearrangement segregating in this family is not a paracentric inversion but an inverted intrachromosomal insertion, inv ins(15)(q15q13q11.2). We also describe a further recombinant resulting in a maternal duplication of the Prader–Willi/Angelman critical region. This family illustrates the importance of distinguishing paracentric inversions from intrachromosomal insertions. © 2004 Wiley‐Liss, Inc.
A Factorized High Dimensional Model Representation on the Partitioned Random Discrete Data
Authors: Alper Tunga M. , Demiralp Metin 
Published: March 2004

AbstractThe main purpose of this work is to obtain the general structure of a product type of multivariate function when the values of the function are given randomly at the nodes of a hyperprism. When the dimensionality of multivariate interpolation and the number of the data sets increase unboundedly, many problems can be encountered in the standard numerical methods. Factorized High Dimensional Model Representation (FHDMR) is used to obtain the general structure of this given multivariate function. The components of FHDMR are determined by using the components of the Generalized High Dimensional Model Representation (GHDMR).The given random discrete data is partitioned by GHDMR method. This partitioned data produces a structure for the multivariate function by using single variable Lagrange interpolation formula including only the constant term and the univariate terms of the GHDMR components. Finally, a general structure is obtained via FHMDR by using these components. By this way, the multidimensionality of a multivariate interpolation is approximated by lower dimensional interpolations like univariate ones. (© 2004 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
A Parametric Sensitivity Analysis for the Solution of Extrema Evaluation Problems via a Dimensionality Reducing Approximation Method
Authors: Kaman Tülin , Demiralp Metin 
Published: March 2004

AbstractThis work aims to apply High Dimensional Model Representation (HDMR) to the sensitivity coefficient determination of the solutions of a multivariate extrema problem. The derivations are made for general functional structure and the illustrative applications are related to structures where the resulting extrema equations are matrix eigenvalue problems. (© 2004 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Diastereoselective C‐arylation of prochiral enolates by the SRN1 reaction
Authors: Baumgartner María T. , Lotz Guillermo A. , Palacios Sara M. 
Published: March 2004

AbstractChiral phenyl acetamide enolate ions were diastereoselectively arylated using aromatic substrates by means of the SRN1 reaction. The substitution took place with a diastereomeric excess that varied from 31–98%, depending on the enolate counterion, the reaction temperature, the solvent, and the aromatic substrate. The absolute configuration of the new stereogenic center of the products (4R,5S)‐1,5‐dimethyl‐4‐phenyl‐3‐[2′‐phenyl‐2′‐arylacetyl]‐imidazolidin‐2‐one (Aryl = 3‐quinolyl, 1‐naphthyl, 4‐anisyl, 4‐benzonitryl, 4‐tolyl, 9‐phenanthryl) was determined by 1H NMR spectroscopy and theoretical calculations. Chirality 16:212–219, 2004. © 2004 Wiley‐Liss, Inc.
Calculations of protein circular dichroism from first principles
Authors: Rogers David M. , Hirst Jonathan D. 
Published: March 2004

AbstractUnderstanding the relationship between the amino acid sequence of a protein and its unique, compact 3D structure is one of the grand challenges in molecular biophysics. One particularly exciting approach is time‐resolved electronic circular dichroism (CD) spectroscopy, which offers resolution on a nanosecond (or faster) time scale, although it does not provide the spatial resolution of techniques like X‐ray crystallography or NMR. The thrust of our work is to underpin fast time scale spectroscopic studies of protein folding with a stronger theoretical foundation. Ultimately, we seek to use molecular dynamics simulations to study the influence of conformational dynamics and conformational transitions on the electronic CD spectra of proteins. We discuss how improved quantum chemical models of individual chromophores, including aromatic sidechains, can be incorporated into calculations of the electronic structure of proteins and their CD. Chirality 16:234–243, 2004. © 2004 Wiley‐Liss, Inc.
Study of the characterization and crystallization of 4‐hydroxy‐2‐pyrrolidone
Authors: Wang Xiu Juan , Wiehler Harald , Ching Chi Bun 
Published: March 2004

AbstractA systematic study of the characterization for racemic species of 4‐hydroxy‐2‐pyrrolidone was undertaken. The melting point phase diagram of (R)‐ and (S)‐4‐hydroxy‐2‐pyrrolidone was determined by differential scanning calorimetry. The ternary phase diagram of (R)‐ and (S)‐4‐hydroxy‐2‐pyrrolidone with isopropanol was constructed at 15, 20, 25, and 35°C. The crystalline nature of 4‐hydroxy‐2‐pyrrolidone racemate was also characterized by means of comparison of solid‐state FTIR spectra and powder X‐ray diffraction patterns of the racemic mixture with those of one of the enantiomers. It is shown that (±)‐4‐hydroxy‐2‐pyrrolidone is a racemic conglomerate. The enthalpies of fusion of (R)‐4‐hydroxy‐2‐pyrrolidone and (±)‐4‐hydroxy‐2‐pyrrolidone and entropy of mixing of (R)‐ and (S)‐4‐hydroxy‐2‐pyrrolidone were calculated using the thermodynamic data. The solubility and supersolubility diagrams of (R)‐ and (S)‐4‐hydroxy‐2‐pyrrolidone in isopropanol were determined over a temperature range of 4–35°C. The optical resolution of (±)‐4‐hydroxy‐2‐pyrrolidone was successfully achieved by preferential crystallization. Chirality 16:220–227, 2004. © 2004 Wiley‐Liss, Inc.
Transfer of chirality by dithiophosphate ligands and chiral discrimination in the stereoselective formation of square‐planar Ni(II) complexes
Authors: Biscarini Paolo , Benedetti Michele , Ferranti Francesco , Kuroda Reiko , Foresti Elisabetta , Sabatino Piera 
Published: March 2004

AbstractIn the formation reaction of Ni2+ with the chiral racemic ligand, (R)(R)bdtp−/(S)(S)bdtp−, bdtp− = [SSPOCH)CH3)CH(CH3)O]−, cyclo‐ O,O′‐[1,2‐dimethylethylene] dithiophosphato ion, the meso‐complex Ni[(R)(R)(λ)bdtp][(S)(S)(δ)‐bdtp] is stereoselectively produced. The meso‐complex was compared with the enantiopure crystals of (+)589Ni[(R)(R)(λ)bdtp]2 or (−)589Ni[(S)(S)(δ)bdtp]2, as well as racemic crystals, rac‐(±)Ni[bdtp]2, which were prepared from the solution containing the two enantiomers in a 1:1 ratio. Dissociation constants in solutions indicate different stability of the meso and enantiopure complexes depending on the solvent, whereas a more efficient crystal packing, weak H‐bonding, and nonbonding interactions contribute to stabilization of the meso‐species over the racemic one. Molecular structures show that the outer five‐membered ligand ring adopts the half‐chair conformation C2 with either the λ or the δ chirality and the methyl groups are in equatorial (e) positions. Enantiopure ligands of (+)589Ni[(R)(R)(λ)bdtp]2 and (−)589Ni[(S)(S)(δ)bdtp]2 induce chirality into the symmetric SSNiSS chromophore with slightly helical distortion. Thus, their CD spectra exhibit weak negative or positive Cotton effects at 662 nm. CD spectra in L(+)‐ and D(−)diethyltartrate of the meso‐complex and racemic crystal, rac‐(±)Ni[bdtp]2, exhibit different weak Cotton effects of opposite sign. Complexes dissociate in methanol; rac‐(±)Ni[bdtp]2 in methanol undergoes a crystallization‐induced second‐order asymmetric transformation which finally yields crystals of the meso‐Ni[(R)(R)(λ)bdtp][(S)(S)(δ)bdtp] complex. Chirality 16:251–262, 2004. © 2004 Wiley‐Liss, Inc.
Utilizing hydrolases of opposite enantiopreference for the preparation of both enantiomers of (1R,7aR)‐(−)‐ and (1S,7aS)‐(+)‐3,6,7,7a‐tetrahydro‐1‐hydroxy‐7a‐methyl‐1H‐inden‐5(2H)‐one
Authors: Lo Lee‐Chiang , Chou Tzyy‐Chao , Shie Jung‐Jing 
Published: March 2004

AbstractFour racemic esters of (1R*,7aR*)‐3,6,7,7a‐tetrahydro‐1‐hydroxy‐7a‐methyl‐1H‐inden‐5(2H)‐one were prepared and subjected to hydrolysis with two types of hydrolases, including alcalase and three lipases. Alcalase and lipase showed opposite enantiopreference on these esters. Based on this result, we developed a gram‐scale procedure using butanoate as the substrate, which was treated consecutively with alcalase and lipase from Candida rugosa (CRL), to give both enantiomers of the title compound in high yields and high enantiomeric excess. Chirality 16:267–271, 2004. © 2004 Wiley‐Liss, Inc.
Enantioseparation of hydrochloride salts using carbon dioxide‐based mobile phases with on‐line polarimetric detection
Authors: Geiser Fiona , Shah Rekha 
Published: March 2004

AbstractMost HPLC enantioseparations of amine analytes are performed using normal‐phase systems containing mobile phases of heptane with ethanol (or 2‐propanol) and an amine additive. Since salt‐forms of amine analytes are usually insoluble in normal‐phase eluents, free‐base forms are synthesized for preparative chromatography. It would be highly desirable to directly chromatograph salt forms of amine analytes using mobile phases of carbon dioxide (CO2) and methanol (MeOH). Such separations would be readily suitable for preparative chromatography, since most amine salts are highly soluble in MeOH. In this article, advantages are shown for the use of supercritical fluid chromatography (SFC) instrumentation with tandem UV and polarimetric detection for confirming enantioseparation as well as for determining optimum preparative column injections. Examples are shown for racemic mixtures of propranolol HCl (I), thioridazine HCl (II), tramadol HCl (III), and flurbiprofen (IV), all of which resolved on Chiralpak AD‐H chiral stationary phase using mobile‐phase systems of CO2 and MeOH without the use of basic or acidic additives. Chirality 16:263–266, 2004. © 2004 Wiley‐Liss, Inc.