bluuebunny/crossref_metadata_2025 huggingface dataset:
Oviposition preference of Bemisia tabaci (Genn.) biotype B (Homoptera: Aleyrodidae) for bean genotypes containing arcelin in the seeds
Authors: Oriani Maria A. de G. , Lara Fernando M.
Published: January 2006

The oviposition preference of Bemisia tabaci biotype B (Homoptera: Aleyrodidae) for bean (Phaseolus vulgaris L.) genotypes containing arcelin in the seeds was evaluated. The tests were carried out under greenhouse conditions, in the dry and wet seasons, with the following genotypes: ARC 3s, ARC 5s (wild genotypes containing arcelin in the seeds); ARC 1, ARC 2, ARC 3, ARC 4 (near isogenic lines containing arcelin in the seeds - EMBRAPA) and Porrillo 70, Bolinha, IAPAR MD 808 (commercial genotypes without arcelin). In the free choice and no-choice oviposition tests, Bolinha and Porrillo 70 genotypes were preferred for oviposition by that insect. The Bolinha susceptibility could be related to the great number of acicular trichomes presents on its leaves surface. The wild genotypes, ARC 5s and ARC 3s, showed oviposition nonpreference resistance type. This resistance is not related to the arcelin variants, since the bred genotypes also contain arcelin in its seeds and did not show resistance to B. tabaci, biotype B.
Survey of the Hymenoptera parasitoids in Eucalyptus grandis and in a native vegetation area in Ipaba, State of Minas Gerais, Brazil
Authors: Dall'Oglio Onice T. , Zanuncio José C. , Azevedo Celso O. , Medeiros Alex G.B.
Published: January 2006

A survey of Hymenoptera parasitoids fauna was made in a transect of Eucalyptus/native vegetation/Eucalyptus in Ipaba, state of Minas Minas Gerais, Brazil from March 1997 to March 1998 with Malaise traps. Individuals of nine superfamilies were collected (Ceraphronoidea, Chalcidoidea, Chrysidoidea, Cynipoidea, Evanioidea, Ichneumonoidea, Proctotrupoidea, Platygastroidea and Vespoidea) which belong to 26 families of this order.
Identification, geographical distribution and host plants of Bemisia tabaci (Genn.) biotypes (Homoptera: Aleyrodidae) in the State of Paraná, Brazil
Authors: Martinez Sueli S. , Carvalho Alfredo O. R. de , Vieira Luiz G. , Nunes Liliane M. , Bianchini Anésio
Published: January 2006

This work was carried out in order to identify Bemisia tabaci (Genn.) biotypes present in the state of Paraná and to determine their geographical distribution and host plants. About 50 adults were collected in several host crops, weeds and ornamental plants in North, Northwest, Northeast, West and Central areas of the state, from January to May, 1998 and 1999. The species were identified by means of RAPD-PCR, using the primer Operon H-16. Whitefly populations were detected mainly from February on, in both years, seldom achieving more than one adult per leaf. The insect was found in only 66% of the sampled areas. Bean golden mosaic was almost never observed during the period. Both biotype A and biotype B of B. tabaci were found in the State of Paraná, the last one being more restricted to the north region. Although biotype B was found colonising a wider range of host plants, it has not spread out in all the state and most of the whitefly specimens found are still the biotype A. A banding pattern distinct of those obtained for A and biotype B of B. tabaci was obtained exclusively with the populations collected from cassava, thus indicating the possible presence of a biotype specific for this crop.
Phoretic association between Nanocladius (Plecopteracoluthus) sp. (Chironomidae: Diptera) and Thraulodes sp. (Leptophlebiidae: Ephemeroptera)
Authors: Callisto Marcos , Goulart Michael D. C.
Published: January 2006

Phoresy between larvae of Nanocladius (Plecopteracoluthus) sp. and nymphs of Thraulodes sp. is reported for the first time in the Neotropics.
Toxicity of Bacillus species to larvae of Lutzomyia longipalpis (L. & N.) (Diptera: Psychodidae: Phlebotominae)
Authors: Wermelinger Eduardo D. , Zanuncio José C. , Rangel Elizabeth F. , Cecon Paulo R. , Rabinovitch Leon
Published: January 2006

A study was conducted to compare the susceptibility of third instar larvae of Lutzomyia longipalpis (L. & N.) (Diptera: Psychodidae: Phlebotominae), the vector of the American visceral leishmaniasis to two strains of Bacillus thuringiensis serovar israelensis, one strain of Bacillus sphaericus (all pathogenic to Diptera Culicidae) and a strain of B. thuringiensis ser. morrisoni (pathogenic to larvae of Anticarsia gemmatalis (Hübner) (Lepidoptera: Noctuidae)). Larvae of L. longipalpis showed similar susceptibility to the two strains of B. thruringiensis ser. israelensis, while B. sphaericus and B. thuringiensis ser. morrisoni showed low and no larvicidal effect to this vector, respectively.
Transplantation of Human Hematopoietic Stem Cells into Ischemic and Growing Kidneys Suggests a Role in Vasculogenesis but Not Tubulogenesis
Authors: Dekel Benjamin , Shezen Elias , Even-Tov-Friedman Smadar , Katchman Helena , Margalit Raanan , Nagler Arnon , Reisner Yair
Published: January 2006

Transplantation of murine bone marrow-derived stem cells has been reported recently to promote regeneration of the injured kidney. We investigated the potential of human adult CD34+ progenitor cells to undergo renal differentiation once xenotransplanted into ischemic and developing kidneys. Immunostaining with human-specific antibodies for tubular cells (broad-spectrum cytokeratin), endothelial cells (CD31, PECAM), stromal cells (vimentin), and hematopoietic cells (pan-leukocyte CD45) demonstrated that although kidney ischemia enhanced engraftment of human cells, they were mostly hematopoietic cells (CD45+) residing in the interstitial spaces. Few other engrafted cells demonstrated an endothelial phenotype (human CD31+in morphologically appearing peritubular capillaries), but no evidence of tubular or stromal cells of human origin was found. Upregulation of SDF1 and HIF1 transcript levels in the ischemic kidneys might explain the diffuse engraftment of CD45+cells following injury. Similarly, when embryonic kidneys rudiments were co-transplanted with human CD34+cells in mice, we found both human CD45+and CD31+cells in the periphery of the developing renal grafts, whereas parenchymal elements failed to stain. In addition, human CD34+cells had no effect on kidney growth and differentiation. This first demonstration of human CD34+stem cell transplantation into injured and developing kidneys indicates that these cells do not readily acquire a tubular phenotype and are restricted mainly to hematopoietic and, to a lesser extent, to endothelial lineages. Efforts should be made to identify additional stem cell sources applicable for kidney growth and regeneration.
Serial Transplantations in Nonobese Diabetic/Severe Combined Immunodeficiency Mice of Transduced Human CD34+ Cord Blood Cells: Efficient Oncoretroviral Gene Transfer and Ex Vivo Expansion Under Serum-Free Conditions
Authors: Gammaitoni Loretta , Lucchi Simona , Bruno Stefania , Tesio Melania , Gunetti Monica , Pignochino Ymera , Migliardi Giorgia , Lazzari Lorenza , Aglietta Massimo , Rebulla Paolo , Piacibello Wanda
Published: January 2006

Stable oncoretroviral gene transfer into hematopoietic stem cells (HSCs) provides permanent genetic disease correction. It is crucial to transplant enough transduced HSCs to compete with and replace the defective host hemopoiesis. To increase the number of transduced cells, the role of ex vivo expansion was investigated. For a possible clinical application, all experiments were carried out in serum-free media. A low-affinity nerve growth factor receptor (LNGFR) pseudotyped murine retroviral vector was used to transduce cord blood CD34+ cells, which were then expanded ex vivo. These cells engrafted up to three generations of serially transplanted nonobese diabetic/severe combined immunodeficiency mice: 54.26% ± 5.59%, 19.05% ± 2.01%, and 6.15% ± 5.16% CD45+ cells from primary, secondary, and tertiary recipient bone marrow, respectively, were LNGFR+. Repopulation in secondary and tertiary recipients indicates stability of transgene expression and long-term self-renewal potential of transduced HSCs, suggesting that retroviral gene transfer into HSCs, followed by ex vivo expansion, could facilitate long-term engraftment of genetically modified HSCs.
FMS-Like Tyrosine Kinase 3 in Normal Hematopoiesis and Acute Myeloid Leukemia
Authors: Parcells Bertrand W. , Ikeda Alan K. , Simms-Waldrip Tiffany , Moore Theodore B. , Sakamoto Kathleen M.
Published: January 2006

Ligand-mediated activation of the FMS-like tyrosine kinase 3 (FLT3) receptor is important for normal proliferation of primitive hematopoietic cells. However, activating mutations in FLT3 induce ligand-independent downstream signaling that promotes oncogenesis through pathways involved in proliferation, differentiation, and survival. FLT3 mutations are identified as the most frequent genetic abnormality in acute myeloid leukemia and are also observed in other leukemias. Multiple small-molecule inhibitors are under development to target aberrant FLT3 activity that confers a poor prognosis in patients.
Dynamics and control of integrated networks with purge streams
Authors: Baldea Michael , Daoutidis Prodromos , Kumar Aditya
Published: January 2006

This work concerns the dynamics and control of process networks in which impurities are present and are removed by a small purge stream. Using a singular perturbation analysis, it is shown that the presence of the small purge stream leads to a time scale separation in the dynamics of the network. A method is proposed for the derivation of nonstiff, reduced‐order models in each time scale that are suitable for analysis and model‐based control. Finally, two case studies are introduced and illustrative numerical simulation results are provided. © 2006 American Institute of Chemical Engineers AIChE J, 2006
Familial adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts
Authors: Bisgaard Marie Luise , Bülow Steffen
Published: January 2006

Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal‐pigmented epithelium (CHRPE) and hepatoblastoma. Sebaceous cysts were reported in 51% of the patients, and their APC mutations were evenly distributed in the gene with no particular hotspot. Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, P < 0.001. The study provides molecular evidence that Gardner syndrome is a variant of FAP and essentially obsolete in clinical practice. © 2006 Wiley‐Liss, Inc.
Diagnosis and management of heterokaryotypic monochorionic twins
Authors: Lewi Liesbeth , Blickstein Isaac , Van Schoubroeck Dominique , Gloning Karl‐Philipp , Casteels Martine , Brandenburg Helen , Fryns Jean‐Pierre , Deprest Jan
Published: January 2006

The diagnosis, management, and outcome of six consecutive heterokaryotypic monochorionic twins were evaluated. All suspected cases, based on discordant ultrasound findings, underwent amniocentesis of both sacs. Two cases also had chorionic villous sampling (CVS). Dual amniocentesis was superior to CVS in diagnosing heterokaryotypic monochorionic twins. In four cases, the X‐chromosome was involved and autosomal aneuploidy was noted in the others. In five cases, the anomalous twin was selectively reduced by cord coagulation. All pregnancies ended with a phenotypically normal liveborn and all children are developing normally at 1–7 years of age. © 2006 Wiley‐Liss, Inc.
Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
Authors: Doco‐Fenzy Martine , Mauran Pierre , Marie Lebrun Jean , Bock Sylvie , Bednarek Nathalie , Struski Stéphanie , Albuisson Juliette , Ardalan Azarnouche , Collot Nathalie , Schneider Anouck , Dastot‐Le Moal Florence , Gaillard Dominique , Goossens Michel
Published: January 2006

Partial trisomy of the region 12q24.1 → q24.2 is rare and usually associated with other rearrangements. We report on the clinical and cytogenetic findings in a girl with a pure de novo direct duplication dup(12)(q24.1 → q24.2). She had developmental and growth retardation, facial dysmorphism with upslanting palpebral fissures, wide downturned mouth, short neck, and Marcus Gunn phenomenon. She also had single transverse creases, hypoplasia of the corpus callosum, and cardiac malformations consisting of a bicuspid aortic valve, multiple ventricular septal defects, and kinking of the aorta. The size of the duplication was characterized by molecular cytogenetics and comparative genomic hybridization (CGH) to be 11.5 Mb in size and extended from the BAC probe RP11‐256L11 loci (108.2 Mb) ± 1 Mb to the BAC probe RP11‐665J20 loci (119.7 Mb) ± 1 Mb. No such pure 12q24 duplication was detected out of the 23 patients reported in the literature with duplications in 12q region. Comparison with these reported 12q trisomies suggests the duplication dup(12)(q24.1 → q24.2) is associated with a recognizable phenotype consisting of characteristic facial dysmorphism, growth retardation, and cardiac malformation. © 2006 Wiley‐Liss, Inc.
Behavioral management of a long‐term survivor with tetrasomy 18p
Authors: Swingle Hanes M. , Ringdahl Joel , Mraz Royann , Patil Shivanand , Keppler‐Noreuil Kim
Published: January 2006

We report on a 41‐year‐old male with dysmorphic features, marked obesity, profound mental retardation, and aggressive behavior who was recently diagnosed with tetrasomy of the short arm of chromosome 18, [47, XY, i(18)(p10)]. His initial diagnosis, based upon chromosomal analysis at 6 years of age in 1969, was “trisomy F syndrome.” Approximately 60 cases of tetrasomy 18p are reported in the literature, with little information regarding their long‐term behavioral profiles or outcomes from therapy. We describe the behavioral management as well as the medical and genetic evaluation for this older patient with tetrasomy. With improved preventive care and intervention, patients with rare chromosomal abnormalities are living longer and, therefore, provide insight into the natural history of their disorders. Efforts need to be directed toward behavior management, social skills training, and augmentation of communication if the quality of life of these individuals is to continue to improve. © 2006 Wiley‐Liss, Inc.
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation
Authors: Terhal Paulien , Rösler Bernd , Kohlhase Jürgen
Published: January 2006

The SALL4 gene encodes a putative zinc finger transcription factor and is located on chromosome 20q13.13‐13.2. Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly. Here, we report an unusual family in which affected persons show an extremely variable phenotype consistent with either Okihiro syndrome, hemifacial microsomia, or isolated Duane anomaly. A novel nonsense mutation in the SALL4 gene was detected in all affected family members and obligate carriers. This mutation is located in exon 3, only 29 bp 5′ of the most 3′ intron, and would therefore be expected to escape the nonsense mediated mRNA decay pathway, which might explain the phenotypic variablity and mild degree of limb involvement. © 2006 Wiley‐Liss, Inc.
Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype
Authors: Zelante Leopoldo , Germano Michele , Sacco Michele , Calvano Savino
Published: January 2006

Shprintzen and Goldberg [1979] described a new autosomal dominant syndrome characterized by omphalocele, scoliosis, pharyngeal and laryngeal hypoplasia, mild dysmorphic face, and learning disabilities. This condition was described in a father and three daughters, one of whom died in infancy, probably of airway narrowing. Here, we report on a second observation of this syndrome in a 6‐year‐old patient. In our case, omphalocele, imperforate anus, and feeding impairment were the main clinical problems in the neonatal period. Scoliosis appeared during the fourth year of age. The facial appearance is similar to the original patients and additional clinical findings are described which expand the phenotypic spectrum. © 2006 Wiley‐Liss, Inc.
Monoallelic BUB1B mutations and defective mitotic‐spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome
Authors: Matsuura Shinya , Matsumoto Yoshiyuki , Morishima Ken‐ichi , Izumi Hideki , Matsumoto Hiroshi , Ito Emi , Tsutsui Keisuke , Kobayashi Junya , Tauchi Hiroshi , Kajiwara Yoshinori , Hama Seiji , Kurisu Kaoru , Tahara Hidetoshi , Oshimura Mitsuo , Komatsu Kenshi , Ikeuchi Tatsuro , Kajii Tadashi
Published: January 2006

Cancer‐prone syndrome of premature chromatid separation (PCS syndrome) with mosaic variegated aneuploidy (MVA) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly, childhood cancer, premature chromatid separation of all chromosomes, and mosaicism for various trisomies and monosomies. Biallelic BUB1B mutations were recently reported in five of eight families with MVA syndrome (probably identical to the PCS syndrome). We here describe molecular analysis of BUB1B (encoding BubR1) in seven Japanese families with the PCS syndrome. Monoallelic BUB1B mutations were found in all seven families studied: a single‐base deletion (1833delT) in four families; and a splice site mutation, a nonsense mutation, and a missense mutation in one family each. Transcripts derived from the patients with the 1833delT mutation and the splice site mutation were significantly reduced, probably due to nonsense‐mediated mRNA decay. No mutation was found in the second alleles in the seven families studied, but RT‐PCR of BUB1B and Western blot analysis of BubR1 indicated a modest decrease of their transcripts. BubR1 in the cells from two patients showed both reduced protein expression and diminished kinetochore localization. Their expression level of p55cdc, a specific activator of anaphase‐promoting complex, was normal but its kinetochore association was abolished. Microcell‐mediated transfer of chromosome 15 (containing BUB1B) into the cells restored normal BubR1 levels, kinetochore localization of p55cdc, and the normal responses to colcemid treatment. These findings indicate the involvement of BubR1 in p55cdc‐mediated mitotic checkpoint signaling, and suggest that >50% decrease in expression (or activity) of BubR1 is involved in the PCS syndrome. © 2006 Wiley‐Liss, Inc.
Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome
Authors: Haberlandt Edda , Svejda Christine , Felber Stefan , Baumgartner Sara , Günther Barbara , Utermann Gerd , Kotzot Dieter
Published: January 2006

We describe an 11‐year‐old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter–Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory manifestations of the syndrome because they are not present in half of reported patients, as well as in our family. Origin of the parents of our patient from neighboring villages supports autosomal recessive inheritance of Kohlschütter–Tönz syndrome. © 2006 Wiley‐Liss, Inc.
Two cases of partial trisomy 21 (pter‐q22.1) without the major features of Down syndrome
Authors: Kondo Yoko , Mizuno Seiji , Ohara Kei , Nakamura Takeshi , Yamada Kenichiro , Yamamori Shunji , Hayakawa Chiemi , Ishii Takashi , Yamada Yasukazu , Wakamatsu Nobuaki
Published: January 2006

We report two cases of partial trisomy 21 with clinical features distinct from Down syndrome (DS). These patients presented with moderate mental retardation and short stature, but the typical facial appearance of DS was not observed. Each patient had a similarly sized extra chromosome 21. We performed FISH analysis to examine whether deletions of reported ∼5 Mb DS critical region (DSCR) might be associated with unusual clinical features in these cases. The results showed that each of their extra chromosomes 21 contained a distal part of chromosome 3p or 14q at the telomeric region of chromosome 21q. The translocation breakpoint of 21q for each patient was located on the centromeric side of DSCR (DSCR was deleted) and the sizes of partial trisomy 21 in respective patients are ∼34.5 (21pter‐q22.12) and ∼33.0 Mb (21pter‐q22.11). In one patient, the additional region of the short arm of chromosome 3 was 3pter‐p26.1 from maternal origin, measuring approximately 9 Mb in size. The second patient had an extra 14q32.1‐qter of maternal origin, measuring approximately 14 Mb in size. These are one of the shortest partial distal trisomy among reported cases. Taken together, two patients with partial trisomy 21 lack all of DSCR on 21q22, and their distinct clinical features are likely caused by the genes located at 21pter‐q22.1 and the distal part of chromosome 3p or 14q. © 2006 Wiley‐Liss, Inc.
Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity
Authors: Bonnet Céline , Zix Christian , Grégoire Marie‐José , Brochet Karène , Duc Mireille , Rousselet Florence , Philippe Christophe , Jonveaux Philippe
Published: January 2006

We report on a 6‐year‐old girl with developmental delay, tall stature, and obesity. G‐banded chromosome analysis revealed mosaicism for one to three small de novo rings in 82% of peripheral lymphocytes. Fluorescence in situ hybridization (FISH) studies and metaphase comparative genomic hybridization (CGH) demonstrated that the rings were derived from 4q10‐4q13. A higher resolution investigation was initiated using array‐CGH analysis and revealed a gain of 11 adjacent clones spanning a 16 Mb region at 4q11‐q13.2 and including the insulin‐like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene. © 2006 Wiley‐Liss, Inc.
A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3‐p11.2
Authors: Liang Desheng , Wu Lingqian , Pan Qian , Harada Naoki , Long Zhigao , Xia Kun , Yoshiura Koh‐ichiro , Dai Heping , Niikawa Norio , Cai Fang , Xia Jiahui
Published: January 2006

A male patient with mental retardation (MR) and mild facial features was shown by high‐resolution G‐banding to have pericentric inversion of chromosome 12 with an unknown segment inserted into the long arm of the inverted chromosome [46,XY,inv(12)(pter → p11.2::q14.1 → p11.2::?::q14.1 → qter)]. Both the inverted chromosome 12 and clinical manifestations were transmitted to his son. Karyotypes of the propositus' parents were normal. Studies with fluorescence in situ hybridization (FISH) in both the propositus and his son revealed that the extra segment was derived from 12p. Further FISH mapping and the genome‐wide copy number detection by GeneChip Mapping 100K Array showed that an 11‐Mb segment of 12p between two BAC clones, RP11‐22H10 and RP11‐977P2, was inserted at one of the reunion points in the long arm of the inv(12) chromosome. Analysis of parent–child transmissions of duplicated alleles using microsatellite markers defined the maternal origin of the chromosomal anomaly in the propositus and suggested a mechanism of its formation through a sister‐chromatid rearrangement (SCR), that is, mismatched pairing and unequal crossover between sister chromatids as well as three break rearrangements including a U type rearrangement. Karyotypes of the propositus and his son were thus inv(12)(pter → p11.22::q14.1 → p12.3::q14.1 → qter). This is the first report of “pure” proximal 12p‐trisomy including p12.3–p11.22 region. © 2006 Wiley‐Liss, Inc.
Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa
Authors: Midro Alina T. , Wiland Ewa , Panasiuk Barbara , Leśniewicz Ryszard , Kurpisz Maciej
Published: January 2006

We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier using a tri‐color fluorescence in situ hybridization (FISH) method. The risk assessments for unfavorable pregnancy outcomes in a series of 36 pregnancies in eight reciprocal chromosome translocation (RCT) couples of carriers were estimated directly from a pedigree after ascertainment correction. The individual probability rate for unbalanced child was predicted according to Stengel‐Rutkowski and co‐workers. The unbalanced karyotypes in the form of monosomy 7q34 → qter and trisomy 13q13 → qter were detected among stillborn/early death newborns with holoprosencephaly (HPE), cyclopia and other malformations. Based on clinical description of unkaryotyped stillbirth progeny, it can be assumed that the phenotype distinctions were connected with the unbalanced karyotype from 2:2 segregation (monosomy 7q with trisomy 13q) and 3:1 segregation as interchange trisomy 13 (Patau syndrome). Probability rates for miscarriages, stillbirth/early death were 12.9 ± 6% (4/31) and 29 ± 8.2% (9/31), respectively. The results of the meiotic segregation pattern indicated the rate of unbalanced spermatozoa for about 60%, with the unusual high rate (29.4%) of 3:1 segregant (i.e., 13.4% of the tertiary segregation and 16% of the interchange segregation). Adjacent‐1 segregation followed with 23.5% and adjacent‐2 followed with 7.2% of analyzed spermatozoa. The high rate of unbalanced gametes in comparison to the number of stillborn/early death and miscarriages detected in pedigree suggests a strong selection against unbalanced chromosomal constitutions during fetal development. It corresponds to a very small probability rate (about 0.3%) of viable unbalanced progeny from 3:1 meiotic segregation predicted for maternal carriers. This knowledge can be used in genetic counseling of families with similar RCT ascertained in a different way. © 2006 Wiley‐Liss, Inc.
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele
Authors: Rump P. , Letteboer T.G.W. , Gille J.J.P. , Torringa M.J.L. , Baerts W. , van Gestel J.P.J. , Verheij J.B.G.M. , van Essen A.J.
Published: January 2006

We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R mutation. An allele‐specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele. © 2006 Wiley‐Liss, Inc.
High heritability of fingertip arch patterns in twin‐pairs
Authors: Reed Terry , Viken Richard J. , Rinehart Shannon A.
Published: January 2006

The presence of an arch pattern on at least one fingertip has previously been suggested as an autosomal dominant trait with reduced penetrance, although the examination of pedigrees with this trait segregating is also consistent with major gene or multifactorial inheritance. We utilized fingerprints in 2,484 twin‐pairs to estimate heritability for the presence of at least one fingertip arch pattern. The frequency of arches in the entire sample was 4.3% (2,175/50,850), 5.5% in females and 3.2% in males. There were 267 twin‐pairs concordant for the presence of an arch on any finger. Structural equation modeling was performed to contingency table data for five groups (MZ male, MZ female, DZ male, DZ female, and unlike‐sexed DZ). The best fitting model, which allowed for the prevalence of arches to differ between males and females, had a heritability of 91%. There was some evidence for small dominant genetic effects in females and shared environmental effects in males, although both were not significant. With such high heritability, the search for specific genes influencing the occurrence of fingertip arch patterns is justified. © 2006 Wiley‐Liss, Inc.
Effects of reactive low‐profile additives on the volume shrinkage and internal pigmentability for low‐temperature cure of unsaturated polyester
Authors: Dong Jyh‐Ping , Chiu Sheng‐Guey , Hsu Mann‐Wen , Huang Yan‐Jyi
Published: January 2006

The effects of reactive poly(vinyl acetate)‐block‐poly(methyl methacrylate) (PVAc‐b‐PMMA) and poly(vinyl acetate)‐block‐polystyrene (PVAc‐b‐PS) as low‐profile additives (LPA) on the volume shrinkage characteristics and internal pigmentability for low‐shrink unsaturated polyester resins (UP) during the cure at 30°C were investigated. These reactive LPAs, which contained peroxide linkages in their backbones, were synthesized by suspension polymerizations, using polymeric peroxides (PPO) as initiators. Depending on the LPA composition and molecular weight, the reactive LPA could lead to a reduction of cyclization reaction for UP resin during the cure, and would be favorable for the decrease of intrinsic polymerization shrinkage after the cure. The experimental results have been explained by an integrated approach of measurements for the static phase characteristics of the styrene (ST)/UP/LPA system, reaction kinetics, cured sample morphology, and microvoid formation by using differential scanning calorimetry (DSC), scanning electron microscopy (SEM), optical microscopy (OM), and image analysis. Based on the Takayanagi mechanical model, factors leading to both a good volume shrinkage control and acceptable internal pigmentability for the molded parts have been explored. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 967–979, 2006
Miscibility and crystallization behavior of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate)/poly(vinyl acetate) blends
Authors: Chiu Hsiu‐Jung
Published: January 2006

The miscibility and crystallization behavior of poly(3‐hydroxybutyrate‐co‐3‐hydroxyvalerate) (P(HB‐co‐HV))/poly(vinyl acetate) (PVAc) blends have been investigated by differential scanning calorimetry (DSC) and polarized optical microscopy (POM). It was found that P(HB‐co‐HV)/PVAc blends were miscible in the melt over the whole compositions. Thus the blend exhibited a single glass transition temperature (Tg), which increased with increasing PVAc composition. The spherulitic morphologies of P(HB‐co‐HV)/PVAc blends indicated that the PVAc was predominantly segregated into P(HB‐co‐HV) interlamellar or interfibrillar regions during P(HB‐co‐HV) crystallization because of the volume‐filled spherulites. As to the crystallization kinetics study, it was found that the overall crystallization and crystal growth rates decreased with the addition of PVAc. The kinetics retardation was primarily attributed to the reduction of chain mobility and dilution of P(HB‐co‐HV) upon mixing with higher Tg PVAc. The overall crystallization rate was predominantly governed by the spherulitic growth rate and promoted by the samples treated with the quenched state because of the higher nucleation density. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 980–988, 2006
Microstructure and mechanical behavior of polyamide 66‐precipitated calcium carbonate composites: Influence of the particle surface treatment
Authors: Cayer‐Barrioz J. , Ferry L. , Frihi D. , Cavalier K. , Séguéla R. , Vigier G.
Published: January 2006

The effects of interfacial adhesion strength on the mechanical behavior of composites of polyamide 66 and precipitated calcium carbonate (CaCO3) particles have been investigated. The 50 nm average diameter particles have been surface‐treated using two kinds of coupling agent having various affinities with respect to the matrix. The surface‐modified particles have been incorporated into the polyamide matrix via melt processing. Tensile and impact tests, associated with dynamical mechanical analysis, have been performed on injection‐molded samples. The structural characterization of the specimens has been carried out using differential scanning calorimetry and wide‐angle X‐ray scattering. It is observed that the matrix structure is roughly insensitive to the surface treatment, despite a weak nucleating effect of the filler particles. In contrast, the particle surface treatment strongly influences the particle dispersion in the polymer matrix. Although dispersion was not optimized, the elastic properties of the reinforced polyamide increase with the CaCO3 content, below as well as above the glass transition temperature. Impact toughness decreases for CaCO3 weight fraction greater than 5%. Scanning electron microscopy investigation reveals that the interfacial adhesion affects local deformation processes, such as debonding and fibrillation of the polymer matrix around the particles, during the macroscopic deformation of the composites. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 989–999, 2006
Solid polymer electrolytes. XI. Preparation, characterization and ionic conductivity of new plasticized polymer electrolytes based on chemical‐covalent polyether–siloxane hybrids
Authors: Liang Wuu‐Jyh , Chen Ying‐Pin , Wu Chien‐Pang , Kuo Ping‐Lin
Published: January 2006

A new hybrid polymer electrolyte system based on chemical‐covalent polyether and siloxane phases is designed and prepared via the sol–gel approach and epoxide crosslinking. FT‐IR, 13C solid‐state NMR, and thermal analysis (differential scanning calorimetry (DSC) and TGA) are used to characterize the structure of these hybrids. These hybrid films are immersed into the liquid electrolyte (1M LiClO4/propylene carbonate) to form plasticized polymer electrolytes. The effects of hybrid composition, liquid electrolyte content, and temperature on the ionic conductivity of hybrid electrolytes are investigated and discussed. DSC traces demonstrate the presence of two second‐order transitions for all the samples and show a significant change in the thermal events with the amount of absorbed LiClO4/PC content. TGA results indicate these hybrid networks with excellent thermal stability. The EDS‐0.5 sample with a 75 wt % liquid electrolyte exhibits the ionic conductivity of 5.3 × 10−3 S cm−1 at 95°C and 1.4 × 10−3 S cm−1 at 15°C, in which the film shows homogenous and good mechanical strength as well as good chemical stability. In the plot of ionic conductivity and composition for these hybrids containing 45 wt % liquid electrolyte, the conductivity shows a maximum value corresponding to the sample with the weight ratio of GPTMS/PEGDE of 0.1. These obtained results are correlated and used to interpret the ion conduction behavior within the hybrid networks. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1000–1007, 2006
Development of acrylonitrile‐butadiene (NBR)/polyamide thermoplastic elastomeric compositions: Effect of carboxylation in the NBR phase
Authors: Chowdhury R. , Banerji M. S. , Shivakumar K.
Published: January 2006

The current investigation was aimed at assessing the effect of carboxylation of NBR phase in dynamically vulcanized NBR/low‐melting polyamide thermoplastic elastomeric compositions. Improved strength and set properties were achieved because of better compatibilization with carboxylated NBRs. The dispersion of the rubber became homogeneous and finer with increase in the degree of carboxylation. Glass transition studies by DMA and DSC suggested the presence of a compatibilizing block copolymer generated in situ by the reaction between the COOH groups in the rubber and the NH2 groups in the polyamide during melt‐mixing. The reaction was studied for a representative 60 : 40 rubber/plastic blend by DSC. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1008–1012, 2006
Water‐assisted formation of honeycomb films of poly(L‐lactic‐co‐glycolic acid)
Authors: Tian Ye , Ding Huaiyu , Shi Yanqiao , Jiao Qingze , Wang Xiaolin
Published: January 2006

The ordered honeycomb structures of poly(L‐lactic‐co‐glycolic acid) and poly(D,L‐lactic‐co‐glycolic acid) fabricated in a humid atmosphere were reported in this paper. It was found that surfactants were important in the formation of honeycomb films of hydrophobic polymer. The affecting factors, such as the environment temperature, the atmosphere humidity, and the concentration of the polymer solution of the honeycomb porous structure, were also tested. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1013–1018, 2006
Evaluation of blood compatibility of MeO‐PEG‐poly (D,L‐lactic‐co‐glycolic acid)‐PEG‐OMe triblock copolymer
Authors: Duan Yourong , Nie Yu , Gong Tao , Wang Qi , Zhang Zhirong
Published: January 2006

The aim of the present work was to assess the blood compatibility of monomethoxy (polyethylene glycol)‐poly (D,L‐lactic‐co‐glycolic acid)‐monomethoxy (polyethylene glycol) (MeO‐PEG‐PLGA‐PEG‐OMe, PELGE) triblock copolymer as a propriety material for intravenous use in vitro. Three different proportional triblock copolymers were synthesized. According to the International Standard Organization (ISO) and US Pharmacopoeia XXIII recommendations, siliconized glass tube was used as the negative control sample, while nonsiliconized glass tube was used as the positive control. The blood compatibility of the films of poly (D,L‐lactic and glycolic acid) (PLGA) was evaluated by dynamic clotting time, activated partial thromboplastin time (APTT), and plasma recalcification time (PRT) measurements, platelet adhesion investigation, and hemolytic ratio analysis. The results revealed that blood compatibility of the materials was good. Nanoparticles made by this kind of materials might be promising for intravenous use. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1019–1023, 2006
Extraction of CdS pigment from waste polyethylene
Authors: Wanrooij P. H. P. , Agarwal U. S. , Meuldijk J. , Kasteren J. M. N. van , Lemstra P. J.
Published: January 2006

Cadmium sulfide has often been used as a pigment in plastics such as high‐density polyethylene (HDPE). Removal of CdS after the useful life of plastics is desired since it poses an environmental hazard in the waste phase of these plastics. In this study, a process is investigated to convert the insoluble CdS in the polymer matrix into CdCl2 by treatment with HCl, followed by extraction of CdCl2 with 1,4‐butanediol (BDO). Since the diffusivity of CdCl2 in HDPE is low, reducing diffusion length and enhancing interfacial area by dispersing BDO by laminar mixing of molten HDPE with BDO facilitate the extraction process. The overall mass transfer process during extraction is modeled as a combination of consecutive steps: diffusion of CdCl2 through HDPE to the BDO dispersed in molten HDPE, followed by transport of the dispersed, CdCl2 containing BDO to the bulk BDO phase surrounding the HDPE. This mechanism achieves reduction of CdCl2 in HDPE from 1128 ppm to less than 100 ppm in 12 min. The somewhat higher melt flow index (MFI) of the HDPE after extraction (8.3 g/10 min) as compared with the MFI of the starting HDPE (6.3 g/10 min) shows some extent of degradation. However, the MFI is acceptable for HDPE recycling. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1024–1031, 2006
Clay–starch composites and their application in papermaking
Authors: Yoon Se‐Young , Deng Yulin
Published: January 2006

Clay–starch composites with different aggregate sizes and starch to clay ratios were prepared by a simple precipitation method. The aggregates of the composites were used as fillers to improve the paper properties. The experimental results showed that the paper strengths increased more than 100% for starch‐modified clay compared to untreated clay at 20–30% clay loading. The increase in paper strengths of clay–starch composite‐filled handsheets was mainly due to two reasons, i.e., the relatively large aggregate size and the improved internal bonding. The optical properties compared at same mechanical strength were also improved. The water solubility of starch in the clay–starch composite was less than 3% at 50°C for 30 min, and it could be further reduced by adding crosslinker. Bonding sites between composite and fiber were investigated by scanning electron microscope. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 100: 1032–1038, 2006
Synthesis and Biological Evaluation of Some Pyrazolinylpyridines and Pyrazolylpyridines
Authors: Singh Tripti , Sharma Shalabh , Srivastava Virendra Kishore , Kumar Ashok
Published: January 2006

Various new 2‐(1′‐acetyl‐5′‐substituted‐aryl‐2′‐pyrazolin‐3′‐yl)aminopyridines (3a–3e) and 2‐(1′‐phenyl 5′‐substituted aryl‐2′‐pyrazol‐3′‐yl)aminopyridines (4a–4e) have been derived from 2‐(substituted benzylidenylacetyl)aminopyridines (2a–2e). The structure of these compounds have been elucidated by elemental and spectral (IR, 1H‐NMR, mass) analysis. Furthermore, above said compounds were evaluated for their insecticidal, antifungal, and antibacterial activities. Compound 4b 2‐[1′‐phenyl‐5′‐(o‐chlorophenyl)‐2′‐pyrazol‐3′‐yl]aminopyridine, when compared for insecticidal and antifungal activities with parathion and fluconazole, respectively, was found to be the most potent one in this series. It also possessed remarkable antibacterial properties.
4‐Chloro‐2,2‐disubstituted Chromen‐3‐carboxaldehyde: Synthesis of some Fused Polycyclic Heterocycles as Anti‐inflammatory, Analgesic, Anticonvulsant, and Antiparkinsonian Agents
Authors: Hegab Mohamed I. , Abdulla Mohamed M.
Published: January 2006

Some new aldazino 4, pyrazolo 5, thieno 8, and thiooxopyrimidino chromenes 10 were prepared via reaction of the corresponding β‐chlorocarboxaldehyde 3 with hydrazine hydrate, mercaptoacetic acid, and thiourea, respectively. Wherever, 4‐chlorochromene derivatives 2 along with 4‐chlorochromen‐3‐carboxaldehyde derivatives 3 were prepared from the corresponding ketone 1 with Vilsmeier‐Haack reagent. Some of the new products showed good anti‐inflammatory, analgesic, anticonvulsant, and antiparkinsonian activities comparable to indomethacin, diclofenace, carbamazepine, and benztropine.
Synthesis of 5‐Phenyl‐1‐(3‐pyridyl)‐1H‐1,2,4‐triazole‐3‐carboxylic Acid Derivatives of Potential Anti‐inflammatory Activity
Authors: Rabea Safwat M. , El‐Koussi Nawal A. , Hassan Hoda Y. , Aboul‐Fadl Tarek
Published: January 2006

A series of 5‐phenyl‐1‐(3‐pyridyl)‐1H‐1,2,4‐triazole‐3‐carboxylic acid derivatives 4–10 were synthesized by rearrangement of 4‐(3‐pyridyl)‐hydrazono‐2‐phenyl‐2‐oxazolin‐5‐one 3 in the presence of different nucleophiles to afford derivatives 4, 7, and 8, while hydroxamic acid derivative 6 was prepared from reaction of methyl ester 4 with hydroxylamine hydrochloride. Semicarbazide 9 and thiosemicarbazide 10, derivatives of the 5‐phenyl‐1‐(3‐pyridyl)‐1H‐1,2,4‐triazole‐3‐carboxylic acid, were synthesized via hydrazide 8 with potassium cyanate and appropriate isothiocyanate, respectively. The structures of the synthesized compounds were confirmed by elemental analyses, IR, 1H‐NMR, and mass spectra. The results of the anti‐inflammatory activity of the synthesized derivatives showed that most of the tested compounds 4–10 showed significant inhibition against carrageenan‐induced rat paw edema in albino rats. Derivatives 4 and 8 showed promising results and were found to be equipotent or more potent than Indomethacin and Celecoxib as reference drugs at two dose levels, 5 and 10 mg/kg, and they have no ulcerogenic activity.
Cyanoacetic Acid Hydrazones of 3‐(and 4‐)Acetylpyridine and Some Derived Ring Systems as Potential Antitumor and Anti‐HCV Agents
Authors: EL‐Hawash Soad A. M. , Abdel Wahab Abeer E. , El‐Demellawy Maha A.
Published: January 2006

Two new acetylpyridinehydrazones derived from cyanoacetic acid hydrazide have been synthesized namely: cyanoacetic acid (1‐pyridin‐3 or 4‐yl‐ethylidene) hydrazides (1a,b). and some derived ring systems: 2‐imino or 2‐oxo‐2H‐chromenes (2a,b and 3a,b), substituted 2‐thioxo‐2,3‐dihydrothiazoles (4a–d), substituted 2‐thioxo‐2,3‐dihydro‐6H‐thiazolo[4,5‐d]pyrimidin‐7‐ones (5a–d), substituted dihydrothiazoles (7a,b), and substituted 2‐oxo‐1,2‐dihydropyridines (8a–d and 9a,b). Fifteen compounds were evaluated for their anticancer activity using the USA‐NCI in‐vitro screening program. Among the tested compounds, 8d exhibited a high value of percent tumor growth inhibition at concentrations of 10–5 to 10–7 M in all cancer cell lines, while 8b exhibited a significant value of percent tumor growth inhibition at concentration <10–8 M against non‐small cells lung HOP‐92. In addition, nine compounds were investigated for their in‐vitro effect on the replication of hepatitis‐C virus (HCV) in HepG2 hepatocellular carcinoma cell line infected with the virus using the reverse transcription polymerase chain reaction technique. Six compounds were capable of inhibiting the replication of both the HCV RNA (+)‐ and (–)‐strands at 5–100 μg/mL concentration range. The activity order was 7b > 1b = 3a > 4c > 7a > 5c.
Amidrazones as Precursors of Biologically Active Compounds – Synthesis of Diaminopyrazoles for Evaluation of Anticancer Activity
Authors: Cocco Maria Teresa , Congiu Cenzo , Lilliu Valentina , Onnis Valentina
Published: January 2006

The regioselectivity of coupling phenyl isocyanate to 3‐(2‐acylhydrazino)‐3‐aminopropenenitriles and ethyl 3‐(2‐acylhydrazino)‐3‐aminopropenoates as simple access to aminopyrazole derivatives, endowed with potential antitumoral activity, is reported. 3‐(2‐Acylhydrazino)‐3‐aminopropenenitriles react with phenyl isocyanate to afford 3‐amino‐3‐(2‐acylhydrazino)‐2‐phenylaminocarbonyl‐2‐propenenitriles. These key intermediates were cyclized into 3,5‐diaminopyrazole‐4‐carboxamide derivatives. Preliminary results of poor antiproliferative activities of these compounds are also reported.
The 11‐mer repeats of human α‐synuclein in vesicle interactions and lipid composition discrimination: A cooperative role
Authors: Bisaglia Marco , Schievano Elisabetta , Caporale Andrea , Peggion Evaristo , Mammi Stefano
Published: January 2006

α‐Synuclein is a protein abundant in presynaptic terminals in the brain. The N‐terminal region of the sequence contains an imperfect 11‐residue periodicity also found in A‐class apolipoproteins and able to fold into an amphipathic helix. Here, the ability of three fragments of the protein, which include one, two, and all repeats, respectively, to bind to vesicles of different phospholipid composition is described. The results suggest a cooperative action of the repeats in selecting target membranes for interaction based on their lipid composition. This deduction is possibly related to the physiological role of the protein, which is still poorly understood. © 2005 Wiley Periodicals, Inc. Biopolymers (Pept Sci) 84: 310–316, 2006

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