bluuebunny/crossref_metadata_2025 huggingface dataset:
EBSD Study of the γ to α Phase Transormation in an CSP–HSLA Steel
Authors: Gardiola B. , Esling C. , Humbert M. , Hensger K.‐E.
Published: August 2003

What are the orientation relations between parent and inherited phase in the phase transformation of HSLA steel? The authors show two methods two answer this problem: a direct method measures the misorientation between ferritic and residual austenitic phase (the Figure shows an austenite grain surrounded by four ferrite grains), while the second method compares the experimental misorientations between the NW and KS variants with theoretically calculated ones. Both methods use local orientation data obtained by the ESBD technique.
Titanium Oxidation During Thermal Treatment: Inhibiting Role of Nitrogen and Epitaxial Orientation Relations Evidenced by EBSD
Authors: Lenarduzzi E. , Bounie P. , Schuman C. , Philippe M.‐J. , Petelot D.
Published: August 2003

A neutral gas as an oxidation inhibitor may actually be counter‐productive! This is the surprise bottom line of the authors' investigations on thermal treatment of titanium. The 1 % of oxygen in argon build up an oxide layer which is thicker than when Ti is heated in ordinary air—since the latter contains nitrogen. Nitrogen plays the role of a diffusion barrier as it occupies the octahedral sites preventing oxygen from diffusing into the metal.
Inorganic–Organic Hybrid Polymers for Information Technology: from Planar Technology to 3D Nanostructures
Authors: Houbertz R. , Fröhlich L. , Popall M. , Streppel U. , Dannberg P. , Bräuer A. , Serbin J. , Chichkov B.N.
Published: August 2003

Sol‐gel synthesis allows inorganic–organic hybrid polymer materials (ORMOCER®s) to be produced, which can be functionalized to tailor their physical and chemical properties such as refractive index or optical loss. A particular material system is discussed here, which is synthesized without addition of water and is applied in optical communications. As examples for 2D and 2.5D technology, planar waveguides, stacked waveguides, and microlenses are shown. Using two‐photon polymerization initiated by femtosecond laser pulses, arbitrary 3D structures can be made in the submicrometer range. In particular, 3D photonic crystal structures are described and discussed.
Ordered Structures from Nanoparticles
Authors: Anselmann R. , Winkler H.
Published: August 2003

In nature many colors arise from ordered structures with periodicities in the submicron range. One prominent example is the gemstone opal. We discuss the origin of the brillant colors of opal and its artificial counterparts: colloidal crystals and three dimensional photonic crystals. In addition we point out possibilities how to prepare colloidal crystals and related materials with inverted structure. Such materials show promising characteristics for innovative future developments in the fields of opitcs.
Carbon Nanotubes for Cold Electron Sources
Authors: Gröning P. , Ruffieux P. , Schlapbach L. , Gröning O.
Published: August 2003

Technological advances in the field of microelectronic fabrication techniques have triggered a great interest in vacuum microelectronics. In contrast to solid‐state microelectronics, which entails scattering‐dominated electron transport in semiconducting solids, vacuum microelectronics relies on the scattering‐free, ballistic motion of electrons in vacuum. Since the first international conference on vacuum microelectronics substantial progress in this field has been made. The first technological devices using micrometer‐sized electron emitting structures are currently being commercialized. Field‐emission flat‐panel displays (FED) seem to be an especially promising competitor to LCD displays. Today there is only one mature technology for producing micro‐gated field‐emission arrays: the Spindt metal‐tip process. The drawbacks of this technology are expensive production, critical lifetime in vacuum, and high operating voltage. Carbon nanotubes (CNT) can be regarded as the potential second‐generation technology to the Spindt metal micro‐tip. In this review we show that the field emission (FE) behavior of CNT can be accurately described by Fowler–Nordheim tunneling and that the field‐enhancement factor β is the most prominent factor. Therefore the FE properties of a CNT thin film can be understood in terms of local field enhancement β(x,y), which can be determined with scanning anode field emission microscopy (SAFEM). To characterize the FE properties of an ensemble of electron emitters we used a statistical approach (as for thin film emitters), where f(β)dβ gives the number of emitters on a unit area with field‐enhancement factors within the interval [β,β + dβ]. We show that the field‐enhancement distribution function f(β) gives an almost complete characterization of the FE properties.
Nanoscale Particles in Medical Products
Authors: Nirschl H.
Published: August 2003

Composite materials are used as an alternative for amalgam fillings or as fixing materials in dentistry. Similar types of materials can be used as bone replacement materials such as replacements for the small bones in the ear. Materials of this type possess a high proportion of filler which can only be achieved by specific design of the filler matrix.
Acute leukemia and myelodysplasia in patients with a Philadelphia chromosome negative chronic myeloproliferative disorder treated with hydroxyurea alone or with hydroxyurea after busulphan
Authors: Nielsen Iben , Hasselbalch Hans Carl
Published: August 2003

Eighty‐three patients with various chronic myeloproliferative disorders [polycythemia vera (PV), essential thrombocytosis (ET), idiopathic myelofibrosis (IMF)] were analyzed for the occurrence of acute myeloid leukemia (AML) and myelodysplasia (MDS) during treatment with hydroxyurea (HU) alone or HU following treatment with busulphan (BU). A total of 58 patients (29 PV, 14 ET, 12 IMF, 3 unclassified) had been treated with HU. Thirty‐five of these patients had been treated with HU alone whereas 18 patients had received both HU and BU. The follow‐up period was 7.8 years. Twenty‐five patients had not been treated with HU. In this patient group, 4 patients had been treated with BU. The follow‐up period was 10.5 years. In the HU‐treated group (n = 58) 7 patients developed AML and 5 patients MDS. Five of the 12 patients had been treated with HU alone, and 4 patients had received both HU and BU. In the non‐HU‐treated group (n = 25) 1 patient with PV developed acute myeloid leukemia (AML). This patient had only been treated with phlebotomies. It is concluded that treatment with HU is leukemogenic, with an incidence of AML and MDS of approximately 14% when used alone. The incidence is markedly increased to about 30% when HU is preceded by treatment with BU. HU is not recommended for use in younger patients, in whom non‐leukemogenic agents such as α‐interferon and anagrelide should be used instead. Am. J. Hematol. 74:26–31, 2003. © 2003 Wiley‐Liss, Inc.
Comparison of diagnostic criteria for disseminated intravascular coagulation (DIC): diagnostic criteria of the International Society of Thrombosis and Hemostasis (ISTH) and of the Japanese Ministry of Health and Welfare for overt DIC
Authors: Wada Hideo , Gabazza Esteban C. , Asakura Hidesaku , Koike Kaoru , Okamoto Kohji , Maruyama Ikurou , Shiku Hiroshi , Nobori Tsutomu
Published: August 2003

We compared the criteria set by the International Society of Thrombosis and Hemostasis (ISTH) for the diagnosis of disseminated intravascular coagulation (DIC) with the criteria of the Japanese Ministry of Health and Welfare (JMHW) set for the diagnosis of overt DIC. We studied 1,284 Japanese patients with DIC. The rate of agreement in the diagnosis of DIC by the two diagnostic systems was 67.4%. In addition, only 2.0% of non‐DIC patients by JMHW criteria were diagnosed with overt DIC by ISTH criteria, suggesting that ISTH for overt DIC includes typical cases of DIC. The concordance of diagnosis for DIC by ISTH and JMHW was significantly high in patients with trauma or acute promyelocytic leukemia. About 70% of DIC or overt DIC patients had more than 1 point in the scoring system for prothrombin time, but >50% of those patients had 0 point for plasma fibrinogen level. Abnormal fibrin and fibrinogen degradation product (FDP) levels and platelet counts were observed in >88% of DIC and overt DIC patients but were observed in >50% of non‐DIC patients, indicating that these parameters are sensitive markers but not specific markers for the diagnosis of DIC. Considered together, our results suggest that the diagnostic criteria for DIC and overt DIC could be improved by changing the cut‐off values of the global coagulation tests. Am. J. Hematol. 74:17–22, 2003. © 2003 Wiley‐Liss, Inc.
Complete remission in advanced blastic NK‐cell lymphoma/leukemia in elderly patients using the hyper‐CVAD regimen
Authors: Shapiro Michael , Wasik Mariusz A. , Junkins‐Hopkins Jacqueline M. , Rook Alain H. , Vittorio Carmela C. , Itakura Haruka , Frankel Matthew C. , Georgala Sofia , Schuster Stephen J.
Published: August 2003

Although its cell of origin is still controversial, the blastic NK‐cell leukemia/lymphoma clearly represents a distinct type of hematopoietic neoplasm that is particularly clinically aggressive when it occurs in elderly patients as a disseminated, multi‐organ disease. Consistently effective treatments have not been developed for this malignancy. The present report describes two elderly patients with widespread blastic NK‐cell leukemia/lymphoma involving the skin, bone marrow, peripheral blood, lymph nodes, and viscera. In both cases the malignant cells were CD56+, CD2+, and terminal deoxynucleotidyl transferase (TdT) positive with no detectable T‐cell receptor (TCR) γ chain gene rearrangement. The cells also exhibited a low CD45 expression and strong CD99 (mic‐2) expression, as seen in immature lymphoid malignancies. The above findings support the precursor NK‐cell, rather than mature NK‐ or non‐NK‐cell, origin of the malignant cells. It is noteworthy that the two patients achieved complete responses to treatment with hyper‐CVAD (fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone) alternating with high‐dose methotrexate/cytarabine, a regimen currently utilized in acute lymphoblastic leukemia and high‐grade lymphoma. The complete remission (CR) was sustained for 24 months in one patient who received four cycles (eight courses) of the treatment. It lasted 9 months in the second patient, who received only two cycles (four courses). If similar results are obtained with future patients, a randomized study comparing the hyper‐CVAD regimen to other therapeutic strategies may be warranted. Am. J. Hematol. 74:46–51, 2003. © 2003 Wiley‐Liss, Inc.
Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome
Authors: Langius Fernanda A.A. , Waterham Hans R. , Romeijn Gerrit Jan , Oostheim Wendy , de Barse Martina M.J. , Dorland Lambertus , Duran Marinus , Beemer Frits A. , Wanders Ronald J.A. , Poll‐The Bwee Tien
Published: August 2003

Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by mental retardation, congenital anomalies, and growth deficiency. The syndrome is caused by a block in cholesterol biosynthesis at the level of 7‐dehydrocholesterol reductase (7‐DHCR), which results in elevated levels of the cholesterol precursor 7‐dehydrocholesterol (7‐DHC) and its isomer 8‐dehydrocholesterol (8‐DHC). We report on three patients from two families with a very mild clinical presentation of SLOS. Their plasma cholesterol values were normal and their plasma levels of 7‐ and 8‐ DHC were only slightly elevated. In cultured skin fibroblasts, a significant residual 7‐DHCR activity was found. All three patients were compound heterozygotes for a novel mutation affecting translation initiation (M1L). Two of them had the common IVS8‐1G>C null mutation and the third patient an E448K mutation in the 7‐DHCR gene. Our findings emphasize the importance of using a sensitive method for measuring precursors of cholesterol in combination with mutation analysis to analyze patients with only minimal clinical SLOS‐like signs. © 2003 Wiley‐Liss, Inc.
Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis
Authors: Loesch D.Z. , Huggins R.M. , Bui Q.M. , Taylor A.K. , Pratt C. , Epstein J. , Hagerman R.J.
Published: August 2003

The effect of the fragile X pre‐mutation and full mutation categories, and FMRP deficits in these categories, on neurocognitive status, have been assessed in fragile X individuals from 144 extended families, which included fragile X individuals, as well as their non‐fragile X relatives. Neuropsychological status was assessed by the Wechsler summary and subtest test scores. A modification of the maximum likelihood estimators for pedigree data that is resistant to outliers was used to analyze the data. The results have demonstrated the effect of large expansions of CGG repeat in the FMR1 (fragile X mental retardation 1) gene (full mutation) in decreasing full scale IQ (FSIQ), as well as several FSIQ‐adjusted subtest scores in the performance domain. Moreover, the results have demonstrated significant cognitive deficits in male individuals with pre‐mutation. FMRP depletion correlates strongly with neurocognitive status in the full mutation subjects. Evidence for the effect of FMRP in smaller expansions (pre‐mutation) in reducing FSIQ, Performance and Verbal scores, as well as subtest scores in males, has also been obtained. The results are also suggestive of factors other than FMRP deficit which may determine some specific cognitive deficits in fragile X pre‐mutation carriers. Genetic variance estimated from the models accounts for less than half of the total variance in FSIQ, and it varies widely between individual Wechsler subtests. © 2003 Wiley‐Liss, Inc.
PEHO and PEHO‐like syndromes: Report of five Australian cases
Authors: Field M.J. , Grattan‐Smith P. , Piper S.M. , Thompson E.M. , Haan E.A. , Edwards M. , James S. , Wilkinson I. , Adès L.C.
Published: August 2003

PEHO syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Few patients fulfilling the diagnostic criteria for PEHO syndrome have been reported outside Finland. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions (often with a hypsarrhythmic EEG pattern), transient or persistent peripheral oedema, and optic atrophy. Cerebellar and brainstem atrophy are usually present on neuroimaging. A PEHO‐like syndrome has been described, in which the affected individuals have neither optic atrophy nor the typical neuroradiological findings. We report five Australian patients, the first with classical features of PEHO syndrome, and four who have a PEHO‐like disorder. We compare their features with other published cases. We suggest that PEHO or a PEHO‐like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder. © 2003 Wiley‐Liss, Inc.
Localization of a non‐syndromic X‐linked mental retardation gene (MRX80) to Xq22‐q24
Authors: Verot Lucie , Alloisio Nicole , Morlé Laurette , Bozon Muriel , Touraine Renaud , Plauchu Henri , Edery Patrick
Published: August 2003

Isolated mental retardation is clinically and genetically heterogenous and may be inherited in an autosomal dominant, autosomal recessive, or X‐linked manner. We report here a linkage analysis in a large family including 15 members, 6 of whom presenting X‐linked non‐syndromic mental retardation (MRX). Two‐point linkage analysis using 23 polymorphic markers covering the entire X chromosome demonstrated significant linkage between the causative gene and DXS8055 with a maximum LOD score of 2.98 at θ = 0.00. Haplotype analysis indicated location for the disease gene in a 23.1 cM interval between DXS1106 and DXS8067. This MRX localization overlaps with 7 XLMR loci (MRX23, MRX27, MRX30, MRX35, MRX47, MRX53, and MRX63). This interval contains two genes associated with non‐syndromic mental retardation (NSMR), namely the PAK3 gene, encoding a p21‐activated kinase (MRX30 and MRX47) and the FACL4 gene encoding a fatty acyl‐CoA ligase (MRX63). As skewed X‐inactivation, an apparently constant feature in FACL4 carrier females was not observed in an obligate carrier belonging to the MRX family presented here, the PAK3 gene should be considered as the strongest candidate for this MRX locus. © 2003 Wiley‐Liss, Inc.
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

The 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

Interphase 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

Rib 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

We 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

Type 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

Kabuki 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

Genitopatellar 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

The 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

X‐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

We 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

Many 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

Nonsyndromic 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

To 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

The 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.
Titelbild: Catalytic Enantioselective Synthesis of Oxindoles and Benzofuranones That Bear a Quaternary Stereocenter (Angew. Chem. 33/2003)
Authors: Hills Ivory D. , Fu Gregory C.
Published: August 2003

Die enantioselektive Umlagerung von O‐acetylierten Benzofuranen und Oxindolen unter Bildung eines quartären Stereozentrums in der 3‐Position des Heterocyclus wird durch ein planar‐chirales Derivat von 4‐(Dimethylamino)pyridin katalysiert. Wie das Titelbild zeigt, ist die reine Katalysatorlösung rot. Durch Zugabe des Substrats startet der Katalysezyklus, wobei ein Farbumschlag nach Grün die Bildung des Resting‐State‐Ionenpaares anzeigt. Im Hintergrund ist der von Oxindol abgeleitete Naturstoff Diazonamid A gezeigt. Mehr zur asymmetrischen Synthese solcher Heterocyclen erfahren Sie von I. D. Hills und G. C. Fu auf S. 4051 ff.
Cover Picture: Catalytic Enantioselective Synthesis of Oxindoles and Benzofuranones That Bear a Quaternary Stereocenter (Angew. Chem. Int. Ed. 33/2003)
Authors: Hills Ivory D. , Fu Gregory C.
Published: August 2003

The enantioselective rearrangement of O‐acylated benzofuranones and oxindoles with the generation of a quaternary stereocenter at C3 of the heterocycle is catalyzed by a planar‐chiral derivative of 4‐dimethylaminopyridine. As shown in the cover picture, the catalyst itself is red, whereas the resting state of the complex during the rearrangement of benzofurans is a green ion pair. Diazonamide A, an oxindole‐derived natural product with potent anticancer activity, is shown in the background. More on the asymmetric syntheses of such heterocycles is provided by I. D. Mills and G. C. Fu on page 3921 ff.
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

Studies 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

In 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

Raman 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

This 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

Large 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
Chemical heterogeneity in cell death: Combined synchrotron IR and fluorescence microscopy studies of single apoptotic and necrotic cells
Authors: Jamin Nadège , Miller Lisa , Moncuit Janine , Fridman Wolf‐Herman , Dumas Paul , Teillaud Jean‐Luc
Published: August 2003

The combination of synchrotron IR microspectroscopy and fluorescence microscopy has led to the identification of specific IR signatures of apoptosis and necrosis at a single cell level. Apoptosis was induced by treatment of Fas+ tumor cell lines with anti‐Fas monoclonal antibodies. Detection of the early and late stages of apoptosis was performed using conjugated annexin V‐fluorescein isothiocyanate (AV‐FITC) and propidium iodide. Very early cellular changes were detected by IR before externalization of phosphatidylserine and AV‐FITC labeling, and they were probably linked to DNA unwinding. The IR signals at 1044, 1177, and 1222 cm−1, as well as an intensity variation in the CHx stretching region, are the main signature changes of early and late apoptosis, in line with the hypothesis of DNA fragmentation. The increased intensity of the CHx stretching bands of the lipids was observed only at an early stage of apoptosis. Changes in the relative intensity of CH3 and CH2 stretching accompany this increased intensity, suggesting changes in the relative amount and/or type of lipids concomitant with an increased lipid content. Finally, necrotic cells were characterized by marked changes in their chemical composition because several new vibrational features were observed. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 366–373, 2003
Fourier transform IR attenuated total reflectance spectroscopy studies of cysteine‐induced changes in secondary conformations of bovine serum albumin after UV‐B irradiation
Authors: Wei Yen‐Shan , Lin Shan‐Yang , Wang Shun‐Li , Li Mei‐Jane , Cheng Wen‐Ting
Published: August 2003

Fourier transform IR spectroscopy equipped with attenuated total reflection was used to investigate the cysteine‐induced alteration of the protein secondary structure of bovine serum albumin (BSA) in aqueous solution before and after UV‐B irradiation. Several amino acids were also studied. The results indicate the unchanged IR spectra of BSA coincubated with amino acids, except cysteine, did not change after 72‐h UV‐B irradiation. There was no difference in the IR spectrum of the unirradiated BSA coincubated with cysteine. A shoulder at 1620 cm−1 attributed to the intermolecular β‐sheet structure was observed for the IR spectrum of BSA coincubated with cysteine after 72‐h UV‐B irradiation. Moreover, the peak intensity at 1303 cm−1 that is due the α‐helix structure was reduced, but the peak intensity at 1247 cm−1 corresponding to β‐sheet structures was increased. Longer UV‐B exposure for a BSA solution coincubated with cysteine changed the BSA solution from clear to viscous to gel form in which a transparent gel and another white gel were simultaneously observed. A gradual IR spectral alteration was found for BSA coincubated with cysteine and subjected to increased UV‐B irradiation. The longer UV‐B irradiation yielded increased intensity at 1620 cm−1. The second‐derivative IR peaks at 1655, 1631, and 1548 cm−1 were shifted to 1650, 1620, and 1544 cm−1, respectively, by the increase of UV‐B irradiation, suggesting a progressive transformation from an α‐helix to an intermolecular β‐sheet structure for BSA coincubated with cysteine. This strongly implies that longer UV‐B exposure time for the BSA solution in the presence of cysteine did alter the protein secondary structures of BSA more, thus inducing gel formation by protein aggregation. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 345–351, 2003
Allophycocyanin: Trimers, monomers, subunits, and homodimers
Authors: MacColl Robert , Eisele Leslie E. , Menikh Abdellah
Published: August 2003

Allophycocyanin is a photosynthetic light‐harvesting pigment–protein complex located in the phycobilisomes of cyanobacteria and red algae. Using dynamic light scattering and circular dichroism, solutions of purified allophycocyanin were shown to consist of homogeneous trimers (α3β3) with a nonspherical shape over a very wide range of protein concentrations at pH 6.0 and 20°C. Deconvolutions of the visible circular dichroism spectrum of the trimer were carried out for the first determination of the individual spectra of all six‐component chromophores. The chromophores were shown to be in different microenvironments that helped determine the spectrum of the trimer. Monomers (αβ) that were formed in either the presence of 0.50M NaSCN or at 45°C were shown to be completely reversible to trimers. However, subunits (α and β) that were formed in either the presence of 8M urea or at 60°C, using spectroscopy and gel‐filtration column chromatography, were observed to only partially reconstitute trimers. Homodimers (α2 and/or β2) formed during the regeneration of trimers. The homodimer, which was detected for the first time when both subunits were present, was shown to be in equilibrium with its subunits. Unlike the trimer situation, subunits were found to fully reconstitute monomers in the presence of 0.50M NaSCN. These results suggest a route to trimer assembly from subunits with monomers serving as intermediaries and the homodimers forming in a nonproductive step that did not interfere with the overall assembly scheme. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy), 72: 352–365, 2003
Optical properties of Erwinia herbicola bacteria at 0.190–2.50 μm
Authors: Arakawa E. T. , Tuminello P. S. , Khare B. N. , Milham M. E.
Published: August 2003

We measure the complex index of refraction of Erwina herbicola (also known as Enterobacter agglomerans or Pantoea agglomerans) bacteria (ATTC 33243) over the spectral region from 0.190 to 2.50 μm (4000–52,632 cm−1). Transmission measurements are made on solid films of E. herbicola and on suspensions of the bacteria in water. These measurements, combined with spectral reflectance and Kramers–Krönig analysis, allow the determination of the real and imaginary parts over the entire wavelength interval. Accurate and consistent results are obtained for this complex and difficult to measure material. This is part of a continuing series of measurements of the optical constants of representative biological materials that are applicable to the development of methods for detection of airborne biological contaminants, where the material under study is used as a surrogate for a pathogenic agent. © 2003 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 391–398, 2003