bluuebunny/crossref_metadata_2025 huggingface dataset:
Mechanistic Studies on Pd-Catalyzed Telomerization and Co-Cyclization of Butadiene: Amphiphilicity of Bis-π-allylpalladium Intermediate in the Presence of Phosphine Ligand
Authors: Kiji Jitsuo , Okano Tamon , Nomura Takaaki , Saiki Kayoko , Sai Torei , Tsuji Jiro
Published: November 2002

Pd-catalyzed reactions of butadiene, which proceed through a bis-π-allylpalladium intermediate, (η3,η3-C8H12)Pd (2), were performed in the presence of both a pronucleophile (aceto- or cyanoacetate) and an electrophile (benzaldehyde). Methyl aceto- or cyanoacetate and benzaldehyde reacted independently with 2 to give telomers 8 and the divinyl-substituted pyranes 9, respectively. In the case of methyl cyanoacetate, the co-cyclization of 2 with 2-cyano-3-phenylpropenoate (11) formed in situ also took place to afford the cyclohexane derivative 10. Namely, three kinds of amphiphilic additions of the C8-chain of 2 occurred to δ+H–Nuδ−, δ+C=Cδ−, and δ+C=Oδ− simultaneously in a one-pot reaction. The Pd-catalyzed reaction of allyl chloride, allyltributylstannane, methyl cyanoacetate, and benzaldehyde was undertaken under neutral conditions, expecting the amphiphilic reactions by the intermediacy of (η3-C3H5)2Pd (6) formed in situ. Allylation of both benzaldehyde and methyl cyanoacetate took place. Competitively amphiphilic bis-allylation of the polar double bond of 11 also occurred to form the 1,7-octadiene derivative 18. The mechanisms of both reactions can be explainable in terms of the amphiphilicity of the intermediates (2 and 6) in the presence of a phosphine ligand.
Intramolecular Cyclization of (2-Functionalized Allyl)trimethylsilane with Acid Chloride. Synthesis of Two Guaianolide-Type α-Methylene γ-Lactones
Authors: Kuroda Chiaki , Kobayashi Kenichi , Koito Akira , Anzai Shuzo
Published: November 2002

α-Methylene γ -lactone fused to seven-membered carbocycle was synthesized by intramolecular cyclization of (2-ethoxycarbonylallyl)trimethylsilane or (2-acetoxymethylallyl)trimethylsilane with acid chloride. The former was found to be a better way for seven-membered carbocyclization, while the latter method was applicable to the synthesis of α- methylene γ -lactones fused to eight- and fourteen-membered carbocycles. Both guaian-8,12- and 6,12-olide type of compounds were synthesized by this method, in which the cyclization reaction proceeded stereoselectively. It was also found that both (Z)- and (E)-allylsilanes afford the same stereoisomer as the major product.
Radical Addition of 2-Iodoalkanamide or 2-Iodoalkanoic Acid to Alkenes with a Water-Soluble Radical Initiator in Aqueous Media: Facile Synthesis of γ -Lactones
Authors: Yorimitsu Hideki , Wakabayashi Katsuyu , Shinokubo Hiroshi , Oshima Koichiro
Published: November 2002

Radical reactions in water or aqueous ethanol using a water-soluble radical initiator are described. Heating a mixture of 2-iodoacetamide and 5-hexen-1-ol in water at 75 °C in the presence of a water-soluble radical initiator, 4,4′-azobis(4-cyanopentanoic acid), afforded 5-(4-hydroxybutyl)dihydrofuran-2(3H)-one in 95% yield. The use of 2-iodoacetic acid in place of 2-iodoacetamide also gave the same γ-lactone in 93% yield. The reaction of 2-iodoacetamide with 1-octene in aqueous ethanol was initiated by 2,2′-azobis(2-methylpropanamidine) dihydrochloride to provide γ-decanolactone. Employing water as a solvent is crucial to obtain lactone in satisfactory yield.
Hydrogen Pressure Dependence in Enantioselective Hydrogenation of α,β-Unsaturated Acids with Cinchonidine-Modified Pd/TiO2 Catalyst
Authors: Nitta Yuriko
Published: November 2002

The enantioselectivity in the hydrogenation of (E)-2,3-diphenyl-2-propenoic acid with a cinchonidine-modified 5wt%Pd/TiO2 catalyst decreases with increasing pressure of hydrogen up to 5 MPa contrary to the tendency observed in the hydrogenation of aliphatic acids, probably because of the difference in the adsorption strength of the substrates on both modified and unmodified sites.
Static and Dynamic Stereochemistry of N-(9-Triptycyl)acetanilide
Authors: Yamamoto Gaku , Nakajo Fusako , Mazaki Yasuhiro
Published: November 2002

X-ray crystallography and dynamic NMR spectroscopy of the title compound revealed (1) pyramidality of the N atom, (2) strong preference for Z-configuration of the amide bond, and (3) very high (67.4 kJ mol−1) and very low (<< 35 kJ mol−1) energy barriers to “Ac-passing” and “Ph-passing”, respectively.
Structural Elucidation of an Oxidation Product of Sedimentary Porphyrins by One-Pot Synthesis of 3-Methylphthalimide
Authors: Nomoto Shinya , Kozono Masaki , Mita Hajime , Shimoyama Akira
Published: November 2002

One-pot synthesis of 3-methylphthalimide was achieved from 1,2,3-trimethylbenzene. The starting compound was oxidized in two steps to produce methylphthalic acids. The o-isomer was converted into its anhydride, which was subjected to thermal reaction with urea to form 3-methylphthalimide. The product was identical with the reported oxidation product of sedimentary porphyrins.
Synthesis of New Symmetrically Substituted Stilbenes with Large Multi-Photon Absorption Cross Section and Strong Two-Photon-Induced Blue Fluorescence
Authors: Wang Xiaomei , Zhou Guanyong , Wang Dong , Wang Chun , Fang Qi , Jiang Minhua
Published: November 2002

Efficient Ti-catalyzed reductive coupling methodology was first employed to synthesize three new chromophores, whose chemical structures have been characterized by IR, 1H NMR, MS spectra, and elemental analyses. These dye solutions exhibit the linear transmission of ca. 90% at wavelengths ≥ 500 nm at the concentrations of 0.005–0.0005 mol dm−3. Pumped by ca. 700 nm laser irradiation, they possess large two-photon absorption cross sections of 44.5 × 40−48–62.0 × 10−48 cm4 s photon−1, and strong up-conversion blue fluorescence occuring at 437–452 nm. A large three-photon absorption cross section of 27.3 × 10−76 cm6 s2 photon−1 has also observed for one of these dyes under ca. 990 nm laser irradiation.
Modelling the Impact of Wind Power Fluctuations on the Load following Capability of an Isolated Thermal Power System
Authors: Persaud Shashi , Fox Brendan , Flynn Damian
Published: November 2002

Wind power is a clean and commercially competitive renewable energy technology that affords many utilities the opportunity to diversify and reduce their dependence on fossil fuels. However, the wind is also an intermittent energy source. Hence, many small and isolated utilities are concerned that, as the number and capacity of wind power plants increases, the resulting fluctuations in wind power output will impose excessive load following duty on their conventional units, leading to grid frequency control problems. This paper investigates the potential impact of wind energy development on the load following capability of a representative medium-sized, (2000 MW) thermal power system. Recorded system demand and wind power production data from the Northern Ireland system are statistically analysed, and the impact of expanded wind farm operation on net wind power and system demand fluctuations modelled and predicted for various time-scales of interest. The results demonstrate that the magnitudes of power output fluctuations from well-dispersed wind farms are small compared to system demand variations. Consequently, wind power expansion will not impose significant additional load following duty on the power system. Statistical analysis of net system demand and scaled wind farm time series data empirically verifies the validity of these findings.
An Improved Approach for Performance Prediction of HAWT Using the Strip Theory
Authors: Mesquita André L. Amarante , Alves Alex S. G.
Published: November 2002

This work reviews briefly the basis of the strip theory or Blade Element/Momentum method and its most used approaches for design and performance prediction of Horizontal-Axis Wind Turbines – HAWT, and proposes a new improved approach for the whole extension of the Tip Speed Ratio – TSR region. The results are compared to others found in the literature and to available experimental data. It is concluded that the proposed model provides similar results to the compared models to regions of TSR greater than 2, as is the case of the electricity-generating fast-running turbines, and extends the validity of these methods to regions of TSR smaller than 2, generally the case of multi-bladed HAWT employed for water pumping.
A Comparison of the Heat and Mechanical Energy of a Heat-Pump Wind Turbine System
Authors: Aybek Ali , Arslan Selcuk , Yildiz Enver , Atik Kemal
Published: November 2002

While a variety of applications of wind energy have been studied in Turkey, no significant efforts have been made to utilize heat pumps for heat generation. The use of heat pumps in wind energy systems is worth considering because of the high efficiency of heat production. In this study, a directly coupled wind turbine-heat pump system was designed, constructed, and tested. Measurements determined the mechanical energy of the rotors of the wind turbine and the heat energy generated by the heat pump driven by the rotor shaft. Based on the comparisons between the power generated by the heat pump and the power of the Savonius rotors, it was found that the heat energy gained by the heat pump was four times greater than the mechanical energy obtained from the turbine. It was suggested that heat pumps could be efficiently used in wind energy systems.
Recent Progress of Wind-Pumps in the Sudan
Authors: Omer Abdeen Mustafa
Published: November 2002

This paper summarises recent and past experience of wind-pump use in the Sudan, including locally manufactured machines. Wind speed data, averaged over a number of years in the Sudan, have been compiled and evaluated and are presented here to select the best regions for application, especially in off-grid areas. Results suggest that wind energy must be encouraged, demonstrated and promoted, especially for remote rural areas.
Usefulness of high‐resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities
Authors: Ness Gro Oddveig , Lybæk Helle , Houge Gunnar
Published: October 2002

Comparative genomic hybridization (CGH) is a technique for detection of chromosomal imbalances in a genomic DNA sample. We here report the application of the recently developed method of high‐resolution CGH on DNA samples from 66 children having various degrees of delayed psychomotor development with or without clear dysmorphic features and congenital malformations. In 5 of 50 patients with apparently normal karyotypes, a deletion or duplication was revealed by CGH. Only one of these cases had a subtelomeric rearrangement. In one of seven cases with a de novo apparently balanced translocation, deletions were found. In all nine cases where the origin of a marker chromosome or additional chromosomal material was difficult to determine, CGH gave a precise identification. The following findings were from cases having a deletion or duplication as the sole chromosomal imbalance; dup(2)(p16p21), del(4)(q21q21), del(6)(q14q15), del(6)(p12p12), dup(6)(q24qter), and dup(15)(q11q13). One case had dup(9)(p11pter) combined with a very small subtelomeric deletion on 6q. In our hands, CGH is highly useful not only for identifying known chromosomal imbalances, but also for finding elusive deletions or duplications in the large group of children with developmental delay with or without congenital abnormalities. In such cases, the diagnostic yield of CGH appears to be higher than what has been reported from subtelomeric FISH screening. © 2002 Wiley‐Liss, Inc.
Genetic testing for hearing loss: Different motivations for the same outcome
Authors: Dagan Orit , Hochner Hagit , Levi Haya , Raas‐Rothschild Annick , Sagi Michal
Published: October 2002

The recent discoveries of genes involved in deafness open new options for families and individuals with hearing loss. Our aim was to learn if parents of children with hearing loss will benefit from these new possibilities. A total of 139 parents answered questionnaires aimed at evaluating their intentions as well as their reasons to opt for or against genetic testing and prenatal diagnosis for hearing loss. A very high interest (87%) in genetic testing was found among Israeli Jewish parents of deaf and hard‐of‐hearing children. Although the Jewish population in Israel is very diverse in its religious beliefs, this high interest was similar across all religious sectors (secular, traditional, orthodox, and ultraorthodox); however, some of the reasons for undertaking such a test were very different between them. Reasons related to family planning and prenatal diagnosis were significantly less important to parents from the ultraorthodox sector, but the possibility to utilize genetic testing for matchmaking the children with hearing loss and their hearing siblings was an important factor in motivating them to undertake the test. Parents from all religious sectors wished testing would shed light on the cause of the hearing loss. We conclude that genetic testing would be welcomed by a wide range of communities, including those that usually do not apply for genetic counseling and testing, if it is offered in accordance with their cultural norms and beliefs. © 2002 Wiley‐Liss, Inc.
Grebe‐Quelce‐Salgado chondrodystrophy: Prenatal diagnosis of two new cases in unrelated families in Southern Brazil
Authors: Muñoz Rojas María Verónica , Gonçalves Luís Flávio
Published: October 2002

Grebe‐Quelce‐Salgado chondrodystrophy is an autosomal recessive non‐lethal skeletal dysplasia. Affected individuals have normal head, neck, and trunk skeleton, relatively normal humeri and femora, short and deformed radii, ulnae, tibiae, and fibulae, and severe abnormalities of hands and feet. Polydactyly is frequent. Digits present as globular appendages and are characteristic of the condition. The disease is caused by a missense mutation in the gene encoding cartilage‐derived morphogenetic protein‐1 (CDMP‐1). Most cases described in the literature are from Brazil and, among these, all had ancestors from a particular region in the state of Bahia. We describe two cases of Grebe‐Quelce‐Salgado chondrodystrophy visualized by prenatal ultrasound. The patients presented in this report do not descend from the population of Bahia and, to our knowledge, case two is the only case with prenatal clinical diagnosis in a family with no previously affected children. © 2002 Wiley‐Liss, Inc.
Hereditary chronic lymphocytic leukemia: An extended family study and literature review
Authors: Lynch Henry T. , Weisenburger Dennis D. , Quinn‐Laquer Brigid , Watson Patrice , Lynch Jane F. , Sanger Warren G.
Published: October 2002

Leukemia is manifested in about 1–2% of people in Western industrialized nations. The most common form of leukemia is B‐cell chronic lymphocytic leukemia (B‐CLL), which accounts for approximately 30% of all cases. While CLL's etiology remains elusive, there is increasing evidence that substantially supports the role of hereditary factors in a subset of cases of this disease. Our purpose is to describe an extremely well documented CLL family wherein the disease has been verified in a father and his four sons; two of the sons are identical twins. The family history, including available medical records and pathology reports, was gathered and reviewed. Peripheral blood lymphocytes were used for cytogenetic and fluorescence in situ hybridization analyses. The family reported herein shows classic findings in support of an autosomal dominant mode of genetic transmission of CLL. Given the explosive developments in molecular genetics during the past decade, it is certain that families of this type will provide important clues to the etiology, pathogenesis, and ultimate prevention of CLL. © 2002 Wiley‐Liss, Inc.
Methodologies in cancer cytogenetics and molecular cytogenetics
Authors: Wang Nancy
Published: October 2002

Various types of cytogenetic and molecular cytogenetic approaches, including conventional banding, fluorescence in situ hybridization (FISH), fiber‐FISH, comparative genomic hybridization (CGH), matrix array CGH, chromosome microdissection, and microcell‐mediated chromosome transfer are summarized. The rationale, advantage, and limitations of each approach are discussed with respect to research and clinical applications in human neoplasia. © 2002 Wiley‐Liss, Inc.
Chromosome breakage syndromes and cancer
Authors: Duker Nahum J.
Published: October 2002

There exist numerous genetic disorders, marked by chromosome instability, that are strikingly associated with various cancers. Both the chromosomal instabilities and neoplastic outcomes are related to abnormalities of DNA metabolism, DNA repair, cell‐cycle governance, or control of apoptosis. Among these diseases are ataxia telangectasia and Nijmegen breakage syndrome, with increased incidences of lymphomas. Bloom syndrome, Werner syndrome, and Rothmund‐Thompson syndrome, each characterized by a DNA helicase defect, are associated with early incidences of different cancers. Other diseases combining the phenotype of chromosomal instabilities and neoplastic development are Fanconi anemia and breast cancers associated with mutant BRCA1 and BRCA2 genes. The cloning of the encoding genes and the characterization of their products have resulted in partial understanding of the pathways of cellular DNA surveillance and maintenance of genomic rectitude. The exact pathways fully linking the genetic defect mechanisms to the eventual development of various neoplasias remain to be elucidated, but progress in defining the molecular genetics of these entities suggests that many of them are disorders of DNA recombination. Each defect involves a separate protein in these complex pathways. © 2002 Wiley‐Liss, Inc.
Molecular cytogenetic aspects of hematological malignancies: Clinical implications
Authors: CHEN ZHONG , SANDBERG AVERY A.
Published: October 2002

The field of molecular cytogenetics has had a great impact on many aspects of medical and basic sciences. During the past 30 years, the application of molecular cytogenetic methodologies has resulted in remarkable advances in the field of cancer genetics and cytogenetics. These advances have led to the establishment of chromosome patterns as diagnostic and prognostic indexes in an array of acute and chronic leukemias and lymphomas, as key information in BMT, and as guides for the localization of oncogenes and tumor suppressor genes that are apparently responsible for the development of neoplastic states. With such information, the physician is in a more favorable position to devise therapy, appraise diagnosis, and plan follow‐up. © 2002 Wiley‐Liss, Inc.
Genetic alterations associated with adult diffuse astrocytic tumors
Authors: Shapiro Joan Rankin
Published: October 2002

Astrocytic tumors make up a wide range of neoplasms that differ in their location in the central nervous system, morphologic features, progressive and invasive behaviors, and the age and gender of people they affect. This report reviews the cytogenetic, molecular cytogenetic, and molecular genetic abnormalities associated with diffuse infiltrating astrocytomas in adults. This group of tumors is subdivided into low‐grade astrocytomas (WHO grade II), anaplastic astrocytomas (WHO grade III), and glioblastoma multiforme (WHO grade IV). © 2002 Wiley‐Liss, Inc.
Cytogenetics and molecular genetics of bone and soft‐tissue tumors
Authors: Sandberg Avery A.
Published: October 2002

The cytogenetic and molecular findings in bone and soft‐tissue sarcomas are summarized. A table presenting all such tumors, with their specific translocations and the genes involved, is included, along with a list of those tumors that most likely result from a stepwise process of numerous genetic changes. © 2002 Wiley‐Liss, Inc.
Cytogenetics and molecular genetics of lung cancer
Authors: Mitsuuchi Yasuhiro , Testa Joseph R.
Published: October 2002

The development and progression of lung cancer is a multistep process characterized by the accumulation of numerous genetic and epigenetic alterations, some of which occur early in the course of disease. In this review, we summarize cytogenetic imbalances and molecular genetic/epigenetic changes seen in human small‐cell and non‐small‐cell lung cancer. Alterations of tumor suppressor genes and oncogenes leading to perturbations of key cell‐regulatory and growth‐control pathways are highlighted. The translational implications of molecular biomarkers for risk assessment, early detection, and monitoring of chemoprevention trials are discussed. © 2002 Wiley‐Liss, Inc.
Cytogenetics and molecular genetics of bladder cancer: A personal view
Authors: Sandberg Avery A.
Published: October 2002

The cytogenetic and molecular genetic aspects that may be involved in the pathogenesis of bladder cancer are presented. Although anomalies of chromosome 9 may play an initial causative role in this cancer, the subsequent events, involving a succession of genetic changes, are less established or understood. This presentation is a distillation of what generally are considered to be the cytogenetic and molecular genetic events that constitute the array of changes underlying bladder cancer. © 2002 Wiley‐Liss, Inc.
Cytogenetics and molecular genetics of cancer of the prostate
Authors: Brothman Arthur R.
Published: October 2002

Prostate cancer remains the most common male malignancy in Western countries and the second‐leading cause of death from cancer in males. Progress in the understanding of molecular and genetic mechanisms leading to this disease has only recently begun to offer a glimpse of the genes, chromosomal sites, and proteins implicated in the development and progression of prostate tumors. This brief review addresses some of the key issues in prostate cancer research, including a discussion of both hereditary and sporadic cancers as well as specific genes and chromosomal loci that likely play a part in the etiology of this disease. © 2002 Wiley‐Liss, Inc.
Cytogenetics and molecular genetics of ovarian cancer
Authors: Wang Nancy
Published: October 2002

Genetic alterations identified in human ovarian tumors by conventional banding, fluorescence in situ hybridization, comparative genomic hybridization, chromosome microdissection, loss of heterozygosity, chromosome microcell–mediated chromosome transfer, and microarray gene expression analysis are summarized and correlated. The significance of these findings with respect to pathologic classification and clinical application are discussed. © 2002 Wiley‐Liss, Inc.
Chromosome and gene alterations in breast cancer as markers for diagnosis and prognosis as well as pathogenetic targets for therapy
Authors: Popescu Nicholas C. , Zimonjic Drazen B.
Published: October 2002

Chromosomal abnormalities have been implicated in cancer development since the turn of the last century. Only during the past two decades, with advances in cytogenetics and molecular biology, has the genetic basis of neoplasia been firmly established, however, with chromosomal alterations being recognized as critical in the pathogenesis of human cancer. Recurrent chromosomal alterations provide cytological and molecular markers for the diagnosis and prognosis of disease. They also facilitate the identification of genes that are important in carcinogenesis and, ultimately, may lead to the development of targeted therapy. In breast cancer, the most prevalent malignancy among females, substantial progress has been achieved in identifying genes located at sites of recurrent chromosomal alterations and in profiling gene expression through the application of powerful cytogenetic and functional genomic techniques. Characterization of the molecular pathologic characteristics and gene‐expression profiles of breast cancer should provide new clinical tools for the accurate diagnosis and prediction of prognosis as well as new targets for the development of therapeutic agents. Published 2002 Wiley‐Liss, Inc.
Renal cancer: Cytogenetic and molecular genetic aspects
Authors: Meloni‐Ehrig Aurelia M.
Published: October 2002

To date, much progress has been made in the fields of cytogenetics and molecular genetics of renal tumors. The previous and recent findings have delineated the characteristics of the various tumors, particularly the cytogenetic and molecular differences that exist between papillary and nonpapillary clear cell renal cell carcinomas (RCCs). At the same time, new cytogenetic subtypes have emerged [e.g., t(X;1)] in subtypes of RCC, while in others (e.g., Wilms tumors) several new cytogenetic abnormalities and consequent molecular involvement have been found. In addition to Wilms tumor, papillary RCC, and clear‐cell RCC, cytogenetic and fluorescence in situ hybridization analyses have been performed on several other tumors of the kidney, including chromophobic carcinoma, metanephric adenoma, collecting duct carcinoma, transitional cell carcinoma, congenital mesoblastic nephroma, and malignant rhabdoid tumors of the kidney. This review is therefore intended to present a concise update on the cytogenetic and molecular data on renal tumors, focusing mainly on the clinical usefulness of the findings reported in the literature. © 2002 Wiley‐Liss, Inc.
Postnatal overgrowth by 15q‐trisomy and intrauterine growth retardation by 15q‐monosomy due to familial translocation t(13;15): Dosage effect of IGF1R?
Authors: Nagai Toshiro , Shimokawa Osamu , Harada Naoki , Sakazume Satoru , Ohashi Hirofumi , Matsumoto Naomichi , Obata Kazuo , Yoshino Atsunori , Murakami Nobuyuki , Murai Takayasu , Sakuta Ryoichi , Niikawa Norio
Published: October 2002

We report a 4‐year‐old boy, a 6‐month‐old girl, and a 17‐week‐old fetus all with a chromosomal imbalance derived from a balanced translocation t(13;15)(q34;q26.1) of their father. The boy had a partial trisomy for 15q26.1‐qter (46,XY,der(13)t(13;15)(q34;q26.1)) and postnatal overgrowth, as well as craniosynostosis, facial anomalies, and finger joint contractures, while the girl with the same chromosomal aberration did not show overgrowth, although she had similar craniofacial and skeletal abnormalities. The fetus had a partial monosomy for 15q26.1‐qter and intrauterine growth retardation (IUGR). Fluorescence in situ hybridization (FISH) analysis with a BAC clone covering the insulin‐like growth factor 1 receptor gene (IGF1R) that is located to 15q25‐q26 revealed three copies in the boy, one copy in the fetus, and two copies in their phenotypically normal father. Since deletion of IGF1Rhas repeatedly been reported to be associated with IUGR, it is tempting to speculate that the dosage of IGF1R may have determined growth in these children. © 2002 Wiley‐Liss, Inc.
Pure partial trisomy 7q: Two new patients and review
Authors: Rodríguez Laura , López Fermina , Paisán Luis , de la Red Maria del Mar Portugués , Ruiz Angeles Maria , Blanco Manuel , Antelo Cortizas Jesús , Martínez‐Frías María Luisa
Published: October 2002

We report on two new cases with a pure partial trisomy of the long arm of chromosome 7. Patient 1 was a female who showed cleft palate with retrognathia, cardiomyopathy, and pulmonary hypertension. Patient 2 was a male who showed microretrognathia, cleft palate, micropenis, camptodactyly, and clynodactyly. High‐resolution G‐bands (550–850) karyotype showed that patient 1 had an extra chromosome, which resulted from the adjacent 3:1 segregation from a maternal balanced reciprocal translocation, and patient 2 had an abnormaly Y chromosome. Fluorescent in Situ Hybridization (FISH) analysis with a whole chromosome painting confirmed in the first patient that the extra chromosome was from chromosome 7, and in patient 2 the abnormal Y chromosome had extra material of chromosome 7 origin. Three different clinical entities have been described as the product of the partial trisomy of three different 7q regions, although some authors have found no karyotype‐phenotype correlations. Of the patients presented here, patient 1 had trisomy of those three regions, and patient 2 had trisomy of two of those regions. © 2002 Wiley‐Liss, Inc.
Simvastatin treatment in the SLO syndrome: A safe approach?
Authors: Starck Lena , Lövgren‐Sandblom Anita , Björkhem Ingemar
Published: October 2002

Soon after the discovery of reduced cholesterol synthesis in the Smith‐Lemli‐Opitz syndrome (SLOS), several trials with dietary supplementation were initiated with the aim of increasing cholesterol and reducing the de novo synthesis and accumulation of 7‐ and 8‐dehydrocholesterol (DHC). Dietary cholesterol raises cholesterol levels in the circulation with only marginal effects on levels of DHC. Photosensitivity and polyneuropathy have been reported to be improved by the treatment, but other effects have been difficult to evaluate. In order to see whether inhibition of hydroxymethylglutaryl CoA reductase is of benefit, two of our patients have been treated with simvastatin in addition to the long‐term treatment with cholesterol and bile acids. Absolute as well as relative levels of DHC were reduced. In one patient, creatine kinase increased moderately after 2 months of treatment. In the other patient, the treatment had to be interrupted because of hepatotoxic side effects with a marked increase in alanine aminotransferase and aggravation of the hypocholesterolemia and photosensitivity. We conclude that even if the levels of accumulated intermediates can be reduced, treatment with a statin may be harmful in some patients with SLOS. © 2002 Wiley‐Liss, Inc.
Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications
Authors: Antonini Sylvie , Kim Chong A. , Sugayama Sofia M. , Vianna‐Morgante Angela M.
Published: October 2002

Two chromosome 3 short arm duplications identified through G‐banding were further investigated using fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) of microsatellite markers, aiming at mapping breakpoints and disclosing mechanisms of origin of these chromosome aberrations. Patient 1 was found to be a mosaic: a 3p12 → 3p21 duplication was observed in most of his cells, and a normal cell line occurred with a frequency of about 3% in blood. In situ hybridization of chromosome 3 short‐ and long‐arm libraries confirmed the short‐arm duplication. Using FISH of short‐arm sequences, the YAC 961_h_3 was shown to contain the proximal breakpoint (3p12.1 or 3p12.2), and the distal breakpoint was located between the YACs 729_c_3 and 806_h_2, which are adjacent in the WC 3.10 contig (3p21.1). In Patient 2, G‐banding indicated a 3p21 → 3p24 duplication, without mosaicism. In situ hybridization of chromosome 3 short‐ and long‐arm libraries confirmed the duplication of short‐arm sequences. FISH of chromosome 3 sequences showed that the YAC 749_a_7 spanned the proximal breakpoint (3p21.33). The distal breakpoint mapped to the interval between YACs 932_b_6 (3p24.3) and 909_b_6 (3p25). In both cases, microsatellite genotyping pointed to a rearrangement between paternal sister chromatids. © 2002 Wiley‐Liss, Inc.
Gender differences in psychosocial reactions to cystic fibrosis carrier testing
Authors: Newman Jamie E. , Sorenson James R. , DeVellis Brenda M. , Cheuvront Brian
Published: October 2002

Gender differences involving genetic testing have become a topic of research as feminist critiques assert that women may be affected differently, and possibly more significantly, than men by genetic carrier testing information. It is possible that men and women differ in their reactions to learning whether they are or are not a carrier of a specific mutation. It is also possible that men and women may differ in their reactions to different methods of genetic testing. Data on gender differences in reactions to cystic fibrosis (CF) carrier testing in a high‐risk population and to gender differences in reactions to home‐based as opposed to clinic‐based testing are reported. This analysis suggests that at least for CF carrier testing, men and women do differ in terms of their risk perceptions, negative psychological affect, perceptions about themselves, and the convenience of testing. However, there was only one difference between men's and women's reactions to the method of testing. A better understanding of gender differences in response to carrier testing, as well as to interactions between gender and methods of genetic testing, may inform better approaches to carrier testing and to considering alternative methods of such testing.
Limitations of stratifying sib‐pair data in common disease linkage studies: An example using chromosome 10p14‐10q11 in type 1 diabetes
Authors: Johnson Gillian C.L. , Koeleman Bobby P.C. , Todd John A.
Published: October 2002

IDDM10 on chromosome 10p11‐q11 has been identified as a putative diabetes susceptibility locus through affected sib‐pair (ASP) linkage analysis in UK nuclear families [Davies et al., 1994: Nature 371:130–136; Reed et al., 1997: Hum Mol Genet 6:1011–1016; Mein et al., 1998: Nat Genet 19:297–300]. We extended analysis of linkage to type 1 diabetes in this region by typing a total of 61 markers in a maximum of 418 UK sib‐pairs (UK418; peak MLS = 3.84). We then stratified the dataset based on analyses performed previously by both our group [Mein et al., 1998: Nat Genet 19:297–300] and others [Paterson et al., 1999: Hum Hered 49:197–204; Paterson and Petronis, 1999a: Am J Med Genet 84:15–19; Paterson and Petronis, 2000a: J Med Genet 37:186–191; Paterson and Petronis, b: Eur J Hum Genet 8:145–148] and used a permutation procedure to assess the significance of the results. We conclude that the results obtained had a high probability of occurring by chance alone. These data highlight the limitations of stratifying small datasets (n < 500) by additional criteria and the recurrent problems of multiple testing in genetic analysis. © 2002 Wiley‐Liss, Inc.
De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation
Authors: Ramadevi A. Radha , Naik Usha , Dutta Usha , Srikanth  , Prabhakara K.
Published: October 2002

An 8‐year‐old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes. Chromosomal analysis of parents revealed de novo inheritance of this inversion. This is the first report of pericentric inversion associated with piebald trait. © 2002 Wiley‐Liss, Inc.
Mutational analysis of the RNX gene in congenital central hypoventilation syndrome
Authors: Matera Ivana , Bachetti Tiziana , Cinti Roberta , Lerone Margherita , Gagliardi Luigi , Morandi Francesco , Motta Mario , Mosca Fabio , Ottonello Giancarlo , Piumelli Raffaele , Schober Johannes G. , Ravazzolo Roberto , Ceccherini Isabella
Published: October 2002

Congenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by failure of autonomic respiratory control, often presenting with other dysfunctions of the autonomic nervous system. Segregation analysis suggested a complex model of inheritance with a major locus involved. Disruption of the Rnx gene, a member of the Hox11 family of homeobox genes, in embryonic stem cells produced mice showing a phenotype similar to CCHS. Based on this observation, we have carried out mutation screening of the RNX gene in a set of 13 patients affected with CCHS, 2 of whom showing association with Hirschsprung disease. Single‐strand conformational polymorphism analysis and direct sequencing of the whole coding portion of the RNX gene and of 1,311 bp of 5′ flanking region were performed. No sequence variant was identified, with the exception of a private nucleotide change at position −874 bp from the ATG codon in two siblings affected with isolated CCHS. A functional test, performed by using the luciferase gene reporter system, has not shown any significant difference in the activity of the promoter region carrying this latter nucleotide change with respect to the wild‐type allele. We conclude that RNX, and presumably its expression, are not altered in our index cases of CCHS. © 2002 Wiley‐Liss, Inc.
Provisional new syndrome of MR/MCA with evolving phenotype
Authors: Lacassie Yves , Morava Éva , LaMotta Ivan
Published: October 2002

We report on a 10‐year‐old patient with a provisionally new syndrome of MR/MCA with an evolving phenotype. Major findings at birth included short umbilical cord; striking hypotonia and cutis laxa with increased OFC; facial abnormalities with epicanthal folds, telecanthus, mild hypertelorism, wide flat nasal bridge, hypoplastic nose with upturned nostrils, and low‐set dysplastic ears; asymmetric deformed chest with prominent sternum and winged scapulae; wider thumbs and halluces; left cryptorchidism and unusual perianal creases. Chromosomal and metabolic studies were normal. With aging, the phenotype has changed significantly: cutis laxa disappeared, the perianal creases and hypotonia are much milder, the initial apparent macrocephaly turned out to be true microcephaly, broad thumbs are less evident, but skeletal anomalies are more striking. Unsuccessful extensive diagnostic searches since birth and presentation in meetings suggest the presence of a private syndrome. © 2002 Wiley‐Liss, Inc.
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy
Authors: Aldred Micheala A. , Aftimos Salim , Hall Christine , Waters Katie S. , Thakker Rajesh V. , Trembath Richard C. , Brueton Louise
Published: October 2002

Albright hereditary osteodystrophy (AHO) results from heterozygous inactivation of Gsα, encoded by the GNAS1 locus on the distal long arm of chromosome 20. This autosomal dominant condition is characterized by short stature, obesity, shortening of the metacarpals and metatarsals, and variable mental retardation and may also include end‐organ resistance to multiple hormones. Small insertions and deletions or point mutations of GNAS1 are found in approximately 80% of patients with AHO. The remainder may be accounted for by larger genomic rearrangements, but none have been reported to date. We now describe two patients with constitutional 20q deletions and features of AHO. Such deletions are rare in the published literature and have not previously been associated with AHO. Molecular genetic analysis confirmed complete deletion of GNAS1 in both patients. Parental origin could be determined in both cases and provides further support for the parent‐of‐origin effect on the biochemical status of patients with AHO. © 2002 Wiley‐Liss, Inc.
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Authors: Passos‐Bueno Maria Rita , Armelin Lucia Maria , Alonso Luís Garcia , Neustein Isaac , Sertié Andréa L. , Abe Kikue , Pavanello Rita de Cássia , Elkis Lívia C. , Koiffmann Célia P.
Published: October 2002

Craniosynostosis caused by genetic factors includes a heterogeneous group of over 100 syndromes, most with autosomal dominant inheritance. Mutations in five genes (FGFR1‐, −2, −3, TWIST, and MSX2) causing craniosynostosis as the main clinical feature were described. In most of these conditions, there are also limb malformations. We report a two‐generation kindred segregating microcornea, optic nerve alterations and cataract since childhood, craniosynostosis, and distal limb alterations, with a great clinical intrafamilial variability. The ophthalmological problems here described seem to be unique to this genealogy while similar feet alterations were apparently only described in two other affected siblings with acro‐cranial‐facial dysostosis syndrome (ADS). However, ADS has an autosomal recessive inheritance instead of the dominant pattern of the present genealogy. The candidate exons of the five genes previously mentioned were tested through sequencing analysis presenting normal results in all cases. Therefore, clinical and laboratory analyses in our patients suggest that their phenotype represents a new syndrome very likely caused by mutation in a gene different from those studied. © 2002 Wiley‐Liss, Inc.
Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies
Authors: Skrypnyk Cristina , Goecke Timm O. , Majewski Frank , Bartsch Oliver
Published: October 2002

We report on a prenatally diagnosed four‐month‐old boy with DiGeorge‐like phenotype and a deletion of chromosome 10pter → 14. Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (VSD), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay. The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion. © 2002 Wiley‐Liss, Inc.
Luminescence Literature
Authors: Kricka L.J
Published: October 2002

The journal provides comprehensive literature searches on all aspects of luminescence which will be published in most issues. These lists have been produced regularly since 1986—some by year and some by specialized topic. This survey of papers on Obelia, Renilla, Aequorea and Gonyaulax is drawn from the 2000 literature and covers the biology of these organisms and the applications of genes and proteins from these organisms in analysis.
Luminescence Literature
Authors: Kricka L.J
Published: October 2002

The Journal provides comprehensive literature searches on all aspects of luminescence, which will be published in most issues. These lists have been produced regularly since 1986—some by year and some by specialized topic. This survey of papers on chemiluminescent and bioluminescent immunoassays is drawn from the 2000 literature and covers reagents, assay development and validation, and applications.
On the chemiluminescence in the oxidation of tetravalent uranium to the uranyl ion by dimethyldioxirane
Authors: Kazakov Dmitri V. , Maistrenko Gulchekhrai Y. , Polyakova Natal'ya P. , Latypova Ramilya R. , Kazakov Valeri P. , Adam Waldemar , Trofimov Alexei V. , Zhao Cong‐Gui , Kiefer Wolfgang , Schlücker Sebastian
Published: October 2002

The reaction of the tetravalent uranium [U(IV)] with dimethyldioxirane (DMD) in strongly acidic water–acetone solutions is accompanied by chemiluminescence (CL) in the visible (Vis) and infra‐red (IR) regions. At least three independent reaction pathways are involved in the U(IV)–DMD oxidation: the first entails the non‐chemiluminescent oxidation of U(IV) to the uranyl ion (UO22+); the second involves the catalytic decomposition of DMD by U(IV) to afford singlet oxygen, as manifested by its characteristic IR‐CL; and in the third process, slow Vis‐CL (510–540 nm) is emitted, following DMD consumption. Copyright © 2002 John Wiley & Sons, Ltd.
Protein structure and bioluminescent spectra for firefly bioluminescence
Authors: Ugarova N. N. , Brovko L. Y.
Published: October 2002

Modern theory on general and specific effects of microenvironment on emission spectra was used for explanation of spectral differences for both natural and mutant forms of beetle luciferases, as well as for bioluminescence emitter oxyluciferin in model systems. For the analysis, both authors' and other published data were used. It was shown that active site mutations that resulted in spectral shifts of bioluminescence as a rule caused substantial decrease in the catalytic activity of the enzyme. At the same time, mutations in the conservative regions of the protein amino acid sequence that were in the periphery of the protein globe resulted in red shift of the bioluminescence spectra without affecting catalytic activity. Correlation was observed between the value of spectral shift and polarizability of the introduced amino acid residue: the higher the polarizability, the larger was the red shift of bioluminescence. Copyright © 2002 John Wiley & Sons, Ltd.
Effects of some trivalent metal ions on the fluoride‐induced chemiluminescence from a phenylphosphate‐substituted dioxetane Lumigen PPD
Authors: Shamsipur Mojtaba , Chaichi Mohammad Javad
Published: October 2002

The chemiluminescene generated from the reaction of a thermally stable phenylphosphate‐substituted dioxetane Lumigen PPD at ambient temperature was studied in DMSO solution. The presence of trivalent metal ions Cr3+, Ga3+, Fe3+ and Al3+ was found to quench the resulting chemiluminescence dramatically. The system resulted in nice Stern–Volmer plots in the quencher concentration range 1.5 × 10−4–1.8 × 10−3 mol/L. The K
Q values decreased in the order Cr3+ > Ga3+ > Fe3+ > Al3+. Copyright © 2002 John Wiley & Sons, Ltd.
Synthesis of 5‐tert‐butyl‐1‐(3‐tert‐butyldimethylsiloxy)phenyl‐4,4‐dimethyl‐2,6,7‐trioxabicyclo[3.2.0]heptanes and their fluoride‐induced chemiluminescent decomposition: effect of a phenolic electron donor on the CIEEL decay rate in aprotic polar solvent
Authors: Matsumoto Masakatsu , Ito Yoshihiro , Murakami Momoko , Watanabe Nobuko
Published: October 2002

Four bicyclic dioxetanes bearing a phenolic substituent, 3‐tert‐butyldimethylsiloxy‐4‐chlorophenyl (3a), 5‐tert‐butyldimethylsiloxy‐4‐chloro‐2‐ethylphenyl (3b), 5‐tert‐butyldimethylsiloxy‐2‐ethylphenyl (3c), and 3‐tert‐butyldimethylsiloxy‐4‐ethylphenyl (3d), were synthesized. All dioxetanes 3a–3d gave intense blue light on treatment with tetrabutylammonium fluoride (TBAF) in DMSO or acetonitrile. Kinetic study on the fluoride‐induced CIEEL decay of these dioxetanes 3a–3d and the parent dioxetane 2b revealed that the para‐substitution with chlorine on the phenolic moiety of dioxetane increases free energy of activation (ΔG‡), while the para‐substitution with ethyl on the aryl decreases ΔG‡. On the other hand, substitution with an ethyl at the ortho‐position instead of the para‐position was found to increase ΔG‡ and to suppress the CIEEL decay. This fact is attributed to the steric factor of the ortho‐ethyl group which would prevent the aromatic ring from rotating freely around the axis joined to the peroxide ring, and supports the suggestion for a CIEEL‐active dioxetane bearing a phenolic moiety that an intramolecular electron transfer occurs preferentially from the phenolic donor to O–O of the dioxetane ring, when the aromatic ring lies in a certain conformation(s). Copyright © 2002 John Wiley & Sons, Ltd.
Kinetic studies on the peroxyoxalate chemiluminescence reaction: determination of the cyclization rate constant
Authors: Silva Sandra M. , Casallanovo Fúlvio , Oyamaguchi Karen H. , Ciscato Luiz F. L. M. , Stevani Cassius V. , Baader Wilhelm J.
Published: October 2002

Although more currently utilized as analytical tool because of its high sensitivity and good reproducibility, the mechanism of the peroxyoxalate system, a chemiluminescence reaction with quantum yields only comparable to bioluminescence systems, has been extensively studied. The light emission mechanism can be divided in the pathway before chemiexcitation, which contains the rate‐limiting steps, and the fast and kinetically non‐observable chemiexcitation step. In this work, we obtain information on the mechanism of the slow pathways, attribute values to several rate constants prior to chemiexcitation and suggest a mechanistic scheme that could help optimization of conditions when the peroxyoxalate reaction is used as analytical tool. Copyright © 2002 John Wiley & Sons, Ltd.