bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relative prevalence of malformations at birth among different religious communities in Israel
Authors: Zlotogora Joël , Haklai Ziona , Rotem Naama , Georgi Moriah , Berlovitz Itzhak , Leventhal Alex , Amitai Yona 
Published: August 2003

AbstractThe aim of this research was to determine the relative prevalence at birth of major malformations among the different religious communities in Israel as a way to better understand their causes. We collected data on malformations present among liveborn infants in a 10‐year period from the national registry of birth defects according to the religious affiliation. In a total of 1,203,763 liveborn infants, the prevalence of major malformations was in a similar range among Jews and Christians and much higher among Muslim and Druze. These observations may be explained by differences between these communities, in particular, the rates of consanguinity and of therapeutic abortions. The Muslim and Druze communities in Israel are those with the highest consanguinity rates and the lowest rates of termination of pregnancies when a malformation is diagnosed. Analysis of the differences in the rate of malformations at birth in different communities is important for Public Health planning. It may also help to delineate causes and serve as the basis for research. © 2003 Wiley‐Liss, Inc.
Rapid prenatal diagnosis in translocation carriers by interphase FISH with chromosome‐specific subtelomere probes
Authors: Cotter Philip D. , Musci Thomas J. , Norton Mary E. 
Published: August 2003

AbstractInterphase fluorescence in situ hybridization (FISH) analysis can provide rapid preliminary analysis of chromosome aneuploidy from direct amniocyte and chorionic villus sample (CVS) preparations. Typically, interphase FISH is used in screening for numerical abnormalities of chromosomes X, Y, 13, 18, and 21. More recently, FISH probe sets became available for the subtelomeric region of each chromosome, allowing screening for terminal chromosome rearrangements. The purpose of the current study was to evaluate the use of dual‐color interphase FISH analysis with chromosome‐specific subtelomere probes for rapid prenatal diagnosis in 14 pregnancies from 12 different translocation carriers. Interphase FISH analysis was performed on direct CVS or amniocyte preparations from 12 reciprocal translocation and two Robertsonian translocation pregnancies with the appropriate chromosome‐specific subtelomere probes for each chromosome involved in the translocation. Analysis of the interphase FISH probe signals predicted balanced or normal segregants in each case, thus rapidly excluding a chromosomally unbalanced segregant. Subsequent metaphase analysis showed normal karyotypes in seven fetuses and balanced translocations in the remaining seven. This series illustrates the utility of interphase FISH analysis with chromosome‐specific subtelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocations and Robertsonian translocations. © 2003 Wiley‐Liss, Inc.
Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases
Authors: Wattanasirichaigoon Duangrurdee , Prasad Chitra , Schneider Gretchen , Evans Jane A. , Korf Bruce R. 
Published: August 2003

AbstractRib anomalies may occur in isolation, as well as in association with abnormalities of vertebral segmentation and multi‐system malformations. Specific entities include the VACTERL and MURCS associations, spondylocostal dysostosis, and spondylothoracic dysostosis. The relative significance of rib anomalies in other lesser known syndromes and associations remains unclear. To document the diagnoses and related defects in patients with rib anomalies as part of broader pattern of anomalies, we retrospectively identified 47 cases from a hospital population, and evaluated specific costal findings and associated birth defects. In our study, fusion was the most common pattern of rib anomaly (72%), followed by bifid (28%) and hypoplastic ribs (26%). Unrecognized patterns of multiple congenital anomalies (MCA) and VACTERL association were the commonest specific diagnoses with a frequency of 30 and 28%, respectively. An associated vertebral defect was found in 72% of the patients. Of those with no vertebral anomaly, the combinations of “rib and cardiac defects alone” and “rib and renal defects alone” were seen in one‐third of the patients (4/13). Both the occurrence and type of rib anomaly were helpful in defining certain syndromes and enhanced the likelihood of identifying related malformations. © 2003 Wiley‐Liss, Inc.
Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system
Authors: Eash Delaina D. , Weaver David D. , Brunetti‐Pierri Nicola 
Published: August 2003

AbstractWe describe in this paper a patient with brachytelephalangic chondrodysplasia punctata (BCDP) who has multiple serious medical problems and striking physical abnormalities. These include cervical spine stenosis with resultant quadriplegia, severe nasal hypoplasia, and brachytelephalangy. Radiographs taken shortly after birth demonstrated extensive epiphyseal and vertebral stippling, and distal phalangeal hypoplasia. The pregnancy was complicated by maternal intestinal obstruction due to a small bowel carcinoma and probable malabsorption. The severity of the phenotype in this case may have been influenced by these maternal factors particularly vitamin K deficiency. © 2003 Wiley‐Liss, Inc.
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
Authors: Wollnik Bernd , Tukel Turgut , Uyguner Oya , Ghanbari Asadollah , Kayserili Hulya , Emiroglu Melike , Yuksel‐Apak Memnune 
Published: August 2003

AbstractType I Waardenburg syndrome (WS‐I) is an auditory‐pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene. Klein–Waardenburg syndrome (WS‐III) is a very rare condition and represents an extreme presentation of WS‐I, additionally associated with musculoskeletal abnormalities. We present an 18‐months old Turkish child with typical Klein–Waardenburg syndrome (WS) including dystopia canthorum, partial albinism, and upper‐limb defects. The child was born to a consanguineous couple and both parents had WS‐I. We screened the entire coding region of the PAX3 gene for mutations and identified a novel missense mutation, Y90H, within the paired box domain of PAX3. Both parents were heterozygous for the mutation and the proposita was homozygous. This is the third report of a homozygous PAX3 mutation causing the WS‐III phenotype. Molecular analysis of four additional Turkish families with variable clinical expression of WS‐I identified two missense mutations, one splice‐site mutation, and one small insertion in the PAX3 gene. © 2003 Wiley‐Liss, Inc.
Patient with Kabuki syndrome and acute leukemia
Authors: Scherer Sabine , Theile Ursel , Beyer Vera , Ferrari Rudolf , Kreck Christiane , Rister Manfred 
Published: August 2003

AbstractKabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an immunodeficiency in Kabuki patients. We report a 2‐year‐old girl with typical Kabuki syndrome, who developed acute lymphocytic leukemia. The patient showed low levels of immunoglobulins G and A and a history of recurrent infections, that might indicate an immunodeficiency leading to an increased susceptibility to cancer. The girl was treated according to BFM protocols adapted to the patient's impaired cardiac situation and severe underweight. She achieved continual complete remission. Classical and molecular cytogenetic analyzes did not detect any abnormality. © 2003 Wiley‐Liss, Inc.
Genitopatellar syndrome: Expanding the phenotype
Authors: Lifchez Caroline A. , Rhead William J. , Leuthner Steven R. , Lubinsky Mark S. 
Published: August 2003

AbstractGenitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations. © 2003 Wiley‐Liss, Inc.
Identity by descent and candidate gene mapping of Richieri‐Costa and Pereira syndrome
Authors: Ferreira de Lima R.L.L. , Moretti‐Ferreira D. , Richieri‐Costa A. , Murray J.C. 
Published: August 2003

AbstractThe Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. Of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity‐by‐descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphic‐markers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. © 2003 Wiley‐Liss, Inc.
X‐linked hypohidrotic ectodermal dysplasia mutations in Brazilian families
Authors: Visinoni Átila F. , de Souza Ricardo L.R. , Freire‐Maia Newton , Gollop Thomaz R. , Chautard‐Freire‐Maia Eleidi A. 
Published: August 2003

AbstractX‐linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (ED1) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin‐A; EDA‐A) involved in the developmental process of epithelial–mesenchymal interaction. ED1 mutations that cause alterations in this protein lead to the XLHED phenotype. The major objective of the present study was to detect ED1 mutations in four Brazilian families with the XLHED phenotype and to compare them to the more than 60 different mutations already reported. DNA of the EDA‐A coding exons was amplified by PCR, and single strand conformation analysis (SSCA) of the electrophoretic bands was carried out in polyacrylamide gel stained with silver nitrate. Two of these four families showed altered DNA band patterns. Subsequent DNA sequencing of the two mutated exons showed: (1) a 36 nucleotide deletion at exon 5 responsible for the loss of four Gly‐X‐Y repeats of the collagen subdomain of EDA‐A; (2) a guanine deletion at exon 6 (966 or 967 sites) that alters EDA‐A after amino acid 241 and leads to a premature ending at amino acid 279. This mutation at exon 6 seems not to have been reported previously and determines a truncated EDA‐A without a part of its extracellular domain that contains the whole TNF homologue subdomain. These two DNA mutations are compatible with the XLHED phenotype. In the other two families the PCR–SSCA methodology was unable to detect any mutation responsible for the XLHED phenotype. © 2003 Wiley‐Liss, Inc.
Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints—A new autosomal recessive condition?
Authors: Reardon William , McGinn Mairead , King Mary D. , Earley Michael 
Published: August 2003

AbstractWe report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait. © 2003 Wiley‐Liss, Inc.
The Simpson–Golabi–Behmel gene, GPC3, is not involved in sporadic Wilms tumorigenesis
Authors: Gillan Tanya L. , Hughes Rhiannon , Godbout Roseline , Grundy Paul E. 
Published: August 2003

AbstractMany genes have been implicated in Wilms tumor; however, only one gene, WT1, has a proven role in the development of this embryonal tumor. Wilms tumor occurs in a number of congenital syndromes including the Simpson–Golabi–Behmel syndrome (SGBS) which has phenotypic overlap with another Wilms tumor‐predisposing syndrome Wiedemann–Beckwith syndrome. The putative function and expression pattern of the SGBS gene, glypican 3 (GPC3), makes it an attractive candidate Wilms tumor gene. We, therefore, hypothesized that Wilms tumors from non‐SGBS patients may harbor somatic mutations of GPC3. Mutation analysis of 64 Wilms tumors was performed. One case of a tumor‐specific deletion of the entire GPC3 gene and several polymorphisms were identified. GPC3 expression was evaluated in 36 Wilms tumors and 29/36 expressed GPC3. Surprisingly, we did not find evidence of functional mutations of GPC3 in sporadic Wilms tumor suggesting that GPC3 is not often directly involved in Wilms tumorigenesis. © 2003 Wiley‐Liss, Inc.
A gene for nonsyndromic X‐linked mental retardation (MRX77) maps to Xq12‐Xq21.33
Authors: Sismani Carolina , Syrrou Maria , Christodoulou Kyproula , Hamel Ben , Chelly Jamel , Yntema Helger G. , Bokhoven Hans van , Tzoufi Meropi , Georgiou Ioannis , Patsalis Philippos C. 
Published: August 2003

AbstractNonsyndromic X‐linked mental retardation (MRX) is a highly heterogeneous condition in which mental retardation appears to be the only consistent manifestation. According to the most recent data, 77 MRX families with a lod score of >2 have been mapped and eight genes have been cloned. We hereby report on a linkage analysis performed on a Greek family with apparently nonsyndromic MRX. The affected males have moderate to severe mental retardation, severe speech problems, and aggressive behavior. Two‐point linkage analysis with 26 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 27 Mb interval in Xq12‐Xq21.33. The maximum LOD score was found for markers DXS1225, DXS8114, and DXS990 at 2.36, 2.06, 2.06, respectively at θ = 0.00. Recombination was observed for DXS983 at the proximal side and DXS6799 at the distal side. Nineteen other MRX families have been described with a partial overlapping disease gene interval in proximal Xq. No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR‐X. These data indicate that the Xq12‐Xq21.33 interval contains at least one additional MRX gene. © 2003 Wiley‐Liss, Inc.
Insights into Iberian population origins through the construction of highly informative Y‐chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite
Authors: Brion M. , Salas A. , González‐Neira A. , Lareu M.V. , Carracedo A. 
Published: August 2003

AbstractTo investigate the diversity of Y chromosomes in the Iberian Peninsula and the North African population of Maghreb, we constructed superhaplotypes on the basis of 10 biallelic markers, 7 microsatellites, and 1 minisatellite located in the nonrecombining portion of the human Y chromosome. The analysis of extremely high MSY1 variability was performed by reducing the MVR‐codes to modular structures. Y‐STRs and MSY1 data provide information about the relationship between closely related populations such as those of Iberia. Analysis of biallelic markers allowed us to identify 7 of 12 haplogroups defined by those polymorphisms. The haplogroup background showed clear differences between Iberian populations and the North African one. The use of differently mutating Y‐chromosome markers allowed us to infer different population events at different time scales: the Paleolithic background of the Iberian Peninsula, the Neolithic fingerprint on Y‐chromosome lineages, and the Iron Age influence in the populations of Iberia. Implications of our results for the highly debated origin of Basques are also discussed. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Histologic examination of bone development in juvenile chimpanzees
Authors: Mulhern Dawn M. , Ubelaker Douglas H. 
Published: August 2003

AbstractThe purpose of this study is to determine whether histologic skeletal development in chimpanzees (Pan troglodytes) differs from that in humans. Currently, minimal quantitative data are available on the bone histology of great apes. In addition to providing baseline data on juvenile chimpanzee bone histology, the data generated by this study have potential applications for studying the comparative development between chimpanzees and humans and other primates, as well as investigating the evolution of human bone development, differences in development among limb elements, and differences in histology related to locomotor function. The study sample includes thin sections from the femoral, tibial, and fibular midshafts of 13 chimpanzees originally prepared by Kerley ([1966] Tulane Stud. Zool. 13:71–82) as part of a study on skeletal age changes in the chimpanzee. Twelve juveniles, ranging in known age from 2–15.3 years, and one adult, with a known age of 35 years, are represented. For each specimen, numbers of osteons, osteon fragments, and non‐Haversian canals were counted, and percent lamellar bone was estimated. Results were compared with data extracted from Kerley ([1965] Am. J. Phys. Anthropol. 23:149–164) on a juvenile human sample. Results indicate that juvenile chimpanzees and humans exhibit similar age‐related changes in histologic variables. However, age is not as strong a predictor of variation in microstructural variables in chimpanzees as it is in humans. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Imaging of luciferase and GFP‐transfected human tumours in nude mice
Authors: Caceres Gisela , Zhu Xiao Yun , Jiao Jin‐an , Zankina Ralitza , Aller Alex , Andreotti Peter 
Published: August 2003

AbstractStudies were performed to compare green ﬂuorescent protein (GFP)‐transfected and ﬁreﬂy luciferase (Luc)‐transfected MCF‐7 human breast tumour cells both in vitro and in vivo. For in vitro studies, cells were serially diluted in 96‐well microplates and analysed using a NightOwl LB 981 Molecular Light Imager and a Victor multilabel reader. For in vivo studies, nude mice were injected either intraperitoneally, intravenously or subcutaneously with transfected cells and then imaged using the NightOwl Imager after intraperitoneal injection of d‐luciferin for Luc tumours, or excitation at 470 nm for GFP tumours. In vitro imaging studies revealed that both GFP and Luc transfectants were quantiﬁable. However, the Luc‐transfected cells were detectable at a signiﬁcantly lower concentration compared to GFP transfectants. In vivo studies demonstrated that GFP‐transfected tumours were detectable as subcutaneous and intraperitoneal tumours but not as deep tissue lesions, whereas Luc‐transfected tumours were detectable as subcutaneous and intraperitoneal tumours and as deep tissue lesions resulting from intraperitoneal or intravenous inoculation. These ﬁndings demonstrate that GFP‐transfected cells may be useful for imaging studies of superﬁcial tumours where both excitation and emission wavelengths are able to penetrate tissues, whereas luciferase‐transfected cells appear superior for imaging studies of primary and metastatic tumours in distant sites and deep tissues. Copyright © 2003 John Wiley & Sons, Ltd.
Enhancement effect of 1‐ethyl‐3‐(3‐dimethylaminopropyl)carbodiimide and cationic surfactant on the chemiluminescence of poly(3, 4, 5‐trihydroxybenzoate ester)dendrimers
Authors: Nakazono Manabu , Yamasaki Naoka , Ma Li , Zaitsu Kiyoshi 
Published: August 2003

AbstractIn the presence of l‐ethyl‐3‐(3‐dimethylaminopropyl)carbodiimide (EDC), the chemiluminescence (CL) intensities of poly(3, 4, 5‐trihydroxybenzoateester)dendrimers, 1 and 2, having 1,2‐pyrocatechol and 1,3,5‐trihydroxybenzene as core molecules and also six and nine gallic acid units in the periphery, were respectively 7.4‐ and 2.4‐fold stronger than those of 1 and 2 in the absence of EDC. Similarly, the CL intensities of 1 and 2 in the presence of cetyltrimethylammonium bromide (CTAB) were respectively 4‐ and 1.7‐fold stronger than those of 1 and 2 in the absence of CTAB. Copyright © 2003 John Wiley & Sons, Ltd.
Enkephalins: Raman spectral analysis and comparison as function of pH 1–13
Authors: Abdali S. , Refstrup P. , Nielsen O. Faurskov , Bohr H. 
Published: August 2003

AbstractRaman spectral studies are carried out on Leu‐ and Met‐enkephalin as a function of the pH value in the range of 1–13. The molecules are dissolved in KCl solvent and the pH is controlled at each value. Spectral analyses reveal the dependence of the structural conformation on the pH, and a comparison of the two molecules is made in three frequency regions: the tyrosine Fermi doublet (850–830 cm−1), aromatic side chains (1650–1550 cm−1), and carboxylate (1430–1400 cm−1). All regions and frequencies are presented, discussed, and compared for the two molecules. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 318–328, 2003
Vibrational 13C‐cross‐polarization/magic angle spinning NMR spectroscopic and thermal characterization of poly(alanine‐glycine) as model for silk I Bombyx mori fibroin
Authors: Monti Patrizia , Taddei Paola , Freddi Giuliano , Ohgo Kosuke , Asakura Tetsuo 
Published: August 2003

AbstractThis study focuses on the conformational characterization of poly(alanine‐glycine) II (pAG II) as a model for a Bombyx mori fibroin silk I structure. Raman, IR, and 13C‐cross‐polarization/magic angle spinning NMR spectra of pAG II are discussed in comparison with those of the crystalline fraction of B. mori silk fibroin (chymotryptic precipitate, Cp) with a silk I (silk I‐Cp) structure. The spectral data give evidence that silk I‐Cp and the synthetic copolypeptide pAG II have similar conformations. Moreover, the spectral findings reveal that silk I‐Cp is more crystalline than pAG II; consequently, the latter contains a larger amount of the random coil conformation. Differential scanning calorimetry measurements confirm this result. N‐Deuteration experiments on pAG II allow us to attribute the Raman component at 1320 cm−1 to the amide III mode of a β‐turn type II conformation, thus confirming the results of those who propose a repeated β‐turn type II structure for silk I. The analysis of the Raman spectra in the νNH region confirms that the silk I structure is characterized by the presence of different types of H‐bonding arrangements, in agreement with the above model. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 329–338, 2003
Numerical simulations of Raman spectra of guanine‐cytosine Watson–Crick and protonated Hoogsteen base pairs
Authors: Morari C. I. , Muntean C. M. 
Published: August 2003

AbstractLarge changes in the Raman spectra of calf thymus DNA are observed upon lowering the pH. In order to gain a better insight into these effects, several simulations of the Raman spectra of the guanine‐cytosine (GC) Watson–Crick and Hoogsteen base pairs are performed. By comparing the Raman bands of GC base pairs in calf thymus DNA at high and low pH with the theoretical simulations of GC base pairs, it is found that the intensity changes in the theoretical bands located between 400 and 1000 cm−1 are small compared to the experimental ones. The behavior of the cytosine band at 1257 cm−1 upon lowering the pH is not reproduced in the GC theoretical spectra. The bands located above 1300 cm−1 in the theoretical spectra display intensity changes that are similar to those found for GC base pairs in calf thymus DNA spectra. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 339–344, 2003