bluuebunny/crossref_metadata_2025 huggingface dataset:
Surfactant‐Assisted Preparation of Novel Layered Silver Bromide‐Based Inorganic/Organic Nanosheets by Pulsed Laser Ablation in Aqueous Media
Authors: He C. , Sasaki T. , Zhou Y. , Shimizu Y. , Masuda M. , Koshizaki N.
Published: October 2007

A novel layered AgBr‐based inorganic/organic nanocomposite was prepared by pulsed laser ablation (PLA) of Ag in aqueous media in the presence of cetyltrimethylammonium bromide (CTAB), and the formation mechanism of two‐dimensional nanosheet was discussed. TEM observations indicate that the obtained AgBr‐based inorganic/organic nanocomposite possesses a well‐defined two‐dimensional shape and that the size of the nanosheet can be changed with the surfactant concentration in the solution. X‐ray diffraction (XRD) pattern was composed of a series of peaks that could be indexed to (00l) reflections of a layered structure, and the basal spacing of 20.0 Å indicated that the surfactant was included between the AgBr interlayers in an interdigitated bilayer arrangement. In contrast, a layered inorganic/organic nanocomposite cannot be formed at a CTAB concentration lower than the critical micelle concentration (CMC). Based on our detailed investigation, we proposed the nanocomposite formation process, that is, that negatively charged inorganic AgBr was produced by a strong reaction between the ablated Ag species and the bromide ions, which are concurrently assembling with cationic surfactant molecules controlled by the charge‐matching mechanism.
Direct Observation of Super‐Plasticity of Beta‐SiC Nanowires at Low Temperature
Authors: Zhang Y. , Han X. , Zheng K. , Zhang Z. , Zhang X. , Fu J. , Ji Y. , Hao Y. , Guo X. , Wang Z. L.
Published: October 2007

Super‐plasticity of single‐crystal beta‐SiC [111] nanowires for > 200 % elongation was observed by in situ axial‐tensile experiments in a scanning electron microscope. The SiC nanowires were characterized by a bamboo‐like structure appearing as the 3C structured segments intergrowth along the nanowire. The axial localized plasticity and super‐plasticity are suggested to result only from the 3C segments, through dislocation generation, propagation and amorphization in contrast to the highly defected structural segments that conduct elastic‐deformation only, owing to the lack of slip systems. These results provide key information for understanding the mechanical behavior of SiC nanowires.
Enzyme‐Catalyzed Nucleophilic Ring Opening of Epoxides for the Preparation of Enantiopure Tertiary Alcohols
Authors: Elenkov Maja Majerić , Hoeffken H. Wolfgang , Tang Lixia , Hauer Bernhard , Janssen Dick B.
Published: October 2007

The halohydrin dehalogenase from Agrobacterium radiobacter AD1 (HheC) catalyzes nucleophilic ring opening of epoxides with cyanide and azide. In the case of 2,2‐disubstituted epoxides, this reaction proceeds with excellent enantioselectivity (E values up to>200), which gives, by kinetic resolution, access to various enantiopure epoxides and β‐substituted tertiary alcohols (ee up to 99 %). Since the enzyme has a broad substrate range and because these tertiary alcohols are difficult to prepare in other ways, HheC is an attractive biocatalyst for the production of β‐cyano and β‐azido tertiary alcohols.
A Practical and Versatile Access to Dihydrosalen (Salalen) Ligands: Highly Enantioselective Titanium In Situ Catalysts for Asymmetric Epoxidation with Aqueous Hydrogen Peroxide
Authors: Berkessel Albrecht , Brandenburg Marc , Leitterstorf Eva , Frey Julia , Lex Johann , Schäfer Mathias
Published: October 2007

A modular synthesis for chiral and non‐symmetrical salalen ligands (i.e., mono‐reduced salens), carrying an imine and an amine functionality has been developed. The ligands can be assembled in situ by Schiff base formation of an N‐(2‐hydroxybenzyl)diamine with a salicylic aldehyde, thus allowing rapid and easy variation/optimization of the ligand structure. Aiming at optimal activity and enantioselectivity in the titanium‐catalyzed asymmetric epoxidation of non‐functionalized olefins, a positional scanning of the two ligand halves was carried out. High epoxide yields were achieved, and up to 98 % ee. The composition of the titanium complex catalysts was determined by high resolution mass spectrometry and X‐ray crystallography for one selected example.
Novel mixed conducting SrSc0.05Co0.95O3‐δ ceramic membrane for oxygen separation
Authors: Zeng Pingying , Ran Ran , Chen Zhihao , Gu Hongxia , Shao Zongping , Liu Shaomin
Published: October 2007

A novel perovskite‐type mixed‐conducting oxide of SrSc0.05Co0.95O3‐δ (SSC) was synthesized by a combined EDTA‐citrate complexing method. The 5 mol % of Sc3+ doping into the B‐site of SrCoO3‐δ (SC) through the sol–gel synthesis effectively stabilized the oxygen vacancy disordered cubic perovskite structure of the oxide, and simultaneously resulted in a substantial increase of the electrical conductivity. The oxide was fabricated into dense ceramic membrane for oxygen separation by pressing/sintering process. The oxygen permeation flux of the SSC membrane and the rate‐determination step of the permeation process were investigated between 750 and 900°C. The experimental results demonstrated that SSC is a promising membrane for oxygen separation with ultrahigh permeation fluxes, compared favorably with reported high oxygen semipermeable Ba0.5Sr0.5Co0.8Fe0.2O3‐δ and SrCo0.8Fe0.2O3‐δ membranes under air/helium gradient. At the condition of reduced temperature and low oxygen partial pressure at the sweep side atmosphere, the permeation process was found to be rate‐determined mainly by the slow oxygen surface exchange kinetics at the air (feed) side membrane surface based on the single cell oxygen permeation study. The activation energy for the oxygen surface exchange and oxygen bulk diffusion was found to be around 126 kJ mol−1 and ≤62.1 kJ mol−1, respectively. © 2007 American Institute of Chemical Engineers AIChE J, 2007
Gasoline desulfurization using extraction with [C8mim][BF4] ionic liquid
Authors: Alonso Luisa , Arce Alberto , Francisco María , Rodríguez Oscar , Soto Ana
Published: October 2007

Increased reductions of statutory sulfur content on fossil fuels as gasoline or diesel have led to intense research into all possible methods of desulfurization. With the aim to study [C8mim][BF4] ionic liquid as extraction solvent for desulfurization, the phase equilibria of different ternary systems involving hydrocarbons present in gasoline formulations, thiophene, and [C8mim][BF4], were obtained experimentally. Potential interest of this ionic liquid for desulfurization was confirmed by the phase equilibria determined. As design of a multistage separation process requires knowledge of phase equilibria, simultaneous correlation of liquid–liquid equilibrium data was done using the nonrandom two liquid (NRTL) activity coefficient model. A gasoline formulation was simulated as a mixture of n‐hexane, cyclohexane, iso‐octane, and toluene with thiophene and dibezothiophene as sulfur‐components, and its desulfurization was performed by multistage extraction using the ionic liquid in three successive stages. © 2007 American Institute of Chemical Engineers AIChE J, 2007
Cultural consonance and adult body composition in urban Brazil
Authors: Dressler William W. , Oths Kathryn S. , Ribeiro Rosane P. , Balieiro Mauro C. , Dos Santos José Ernesto
Published: October 2007

In previous research in Brazil, we found socioeconomic and gender differences in body mass and percent body fat, consistent with a model in which individuals in higher socioeconomic strata, especially women, could achieve a cultural ideal of body size and shape. In this article, using new data, we examine these processes more precisely using measures of cultural consonance. Cultural consonance refers to the degree to which individuals approximate, in their own beliefs and behaviors, the shared prototypes for belief and behavior encoded in cultural models. We have found higher cultural consonance in several domains to be associated with health outcomes. Furthermore, there tends to be a general consistency in cultural consonance across domains. Here we suggest that measures of body composition can be considered indicators of individuals' success in achieving cultural ideals of the body, and that cultural consonance in several domains will be associated with body composition. Using waist circumference as an outcome, smaller waist size was associated with higher cultural consonance in lifestyle (β = −0.311, P < 0.01) and higher cultural consonance in the consumption of high prestige foods (β = −0.260, P < 0.01) for women (n = 161), but not for men (n = 106), controlling for age, family income, tobacco use, and dietary intake of protein and carbohydrates. Similar results were obtained using the body mass index and weight as outcomes, while there were no associations with height. These results help to illuminate the cultural mediation of body composition. Am. J. Hum. Biol., 2008. © 2007 Wiley‐Liss, Inc.
Height of US‐born non‐Hispanic children and adolescents ages 2–19, born 1942–2002 in the NHANES samples
Authors: Komlos John , Breitfelder Ariane
Published: October 2007

We examine the height of non‐Hispanic US‐born children born 1942–2002 on the basis of all NHES and NHANES data sets available. We use the CDC 2000 reference values to convert height into height‐for‐age z‐scores stratified by gender. We decompose deviations from the reference values into an age‐effect and a secular trend effect and find that after an initial increase in the 1940s, heights experienced a downward cycle to reach their early 1950s peak again only c. 2 decades later. After the early 1970s, heights increased almost continuously until the present. Girls born in 2002 are estimated to be 0.35σ and boys are 0.39σ above their 1971 values implying an increase of ∼2.5 cm between birth cohorts 1971 and 2002 as an average of all ages (Table 3). Age effects are also substantial‐pointing to faster tempo of growth. Girls are c. 0.23σ taller at age 11 and boys 0.15σ taller at age 13 than reference values (Fig. 3). This translates into an age effect of ∼1.7 and 1.3 cm, respectively. Hence, the combined estimated trend and age‐effects are substantially larger than those reported hitherto. The 2‐decade stagnation in heights and the upward trend beginning in the early 1970s confirm the upswing in adult heights born c. 1975–1983, and imply that adults are likely to continue to increase in height. We find the expected positive correlation between height and family income, but income does not affect the secular trend or the age effects markedly. Am. J. Hum. Biol., 2008. © 2007 Wiley‐Liss, Inc.
The effect of rainfall during gestation and early childhood on adult height in a foraging and horticultural society of the Bolivian Amazon
Authors: Godoy Ricardo , Tanner Susan , Reyes‐García Victoria , Leonard William R. , Mcdade Thomas W. , Vento Melanie , Broesch James , Fitzpatrick Ian C. , Giovannini Peter , Huanca Tomás , Jha Naveen
Published: October 2007

Recent research documents the effects of adverse conditions during gestation and early childhood on growth responses and health throughout life. Most research linking adverse conditions in early life with adult health comes from industrial nations. We know little about the plasticity of growth responses to environmental perturbations early in life among foragers and horticulturalists. Using 2005 data from 211 women and 215 men 20+ years of age from a foraging–horticultural society of native Amazonians in Bolivia (Tsimane'), we estimate the association between (a) adult height and (b) rainfall amount and variability during three stages in the life cycle: gestation (year 0), birth year (year 1), and years 2–5. We control for confounders such as height of the same‐sex parent. Rainfall amount and variability during gestation and birth year bore weak associations with adult height, probably from the protective role of placental physiology and breastfeeding. However, rainfall variability during years 2–5 of life bore a negative association with adult female height. Among women, a 10% increase in the coefficient of variation of rainfall during years 2–5 was associated with 0.7–1.2% lower adult height (1.08–1.93 cm). Environmental perturbations that take place after the cessation of weaning seem to leave the strongest effect on adult height. We advance possible explanations for the absence of effects among males. Am. J. Hum. Biol., 2008. © 2007 Wiley‐Liss, Inc.
Urorectal septum malformation sequence: Prenatal progression, clinical report, and embryology review
Authors: Escobar Luis F. , Heiman Meadow , Zimmer Dawn , Careskey Holly
Published: October 2007

The urorectal septum malformation sequence (URSMS) is characterized by severe abnormalities of the urorectal septum (URS) and urogenital organs. The primary defect in this condition appears to be a deficiency in caudal mesoderm leading to the malformation of the URS and other structures in the pelvic region. Recent clinical reports discuss prental findings of URSMS [Lubusky et al. (2006); Prenatal Diagnosis 26: 345–349]. However, here we present a case of URSMS with prenatal findings not previously described, review the literature on URSMS, and summarize current embryological understanding of the pathology seen in hindgut development. The unique prenatal finding in the patient was an abdominally located cystic mass that was first seen at 18 weeks of gestation. Over the next 6 weeks, the mass decreased in size until it disappeared. Concurrent with reduction of the cyst, ascites developed. The patient displayed several traditional URSMS indicators including abnormal bladder and dysplastic kidneys. Our findings give additional insight into the embryology of urorectogenital development. Specifically, they suggest that the cystic mass may have been a persistent urachus prior to septation of the cloaca. Postnatal evaluation confirmed a URSMS diagnosis; the newborn had ambiguous genitalia, hypoplastic kidneys, absent uterus, imperforate anus, smooth perineum, and overall underdeveloped urogenital structures. © 2007 Wiley‐Liss, Inc.
Compound heterozygous mutations in fibulin‐4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
Authors: Dasouki Majed , Markova Dessislava , Garola Robert , Sasaki Takako , Charbonneau Noe L. , Sakai Lynn Y. , Chu Mon‐Li
Published: October 2007

Mutations involving elastic tissue proteins result in a broad spectrum of phenotypes affecting skin, skeleton, ocular and vascular structures, including tortuous blood vessels and cutis laxa. Here we report on a female newborn with apparently long fingers, aortic aneurysm, tortuous pulmonary arteries and mild generalized lax skin. She died at 27 days of age due to severe respiratory distress and inoperable systemic vascular abnormalities. Skin biopsy showed marked paucity and fragmentation of elastic fibers and autopsy revealed occlusion of the pulmonary artery. DNA analysis identified compound heterozygous mutations ((c.835C > T (p.R279C)/c.1070_1073dupCCGC) in fibulin‐4, a recently recognized elastic fiber associated protein. Analyses of dermal fibroblasts from the patient indicated that fibulin‐4 mRNAs with the 4‐bp duplication transcribed from one allele are probably subject to nonsense‐mediated decay, whereas synthesis and secretion of the missense R279C fibulin‐4 protein from the other allele is severely impaired. Immunostaining demonstrated a total absence of fibulin‐4 fibers in the extracellular matrix deposited by the patient's fibroblasts. Our studies provide evidence that deficiency in fibulin‐4 leads to a perinatal lethal condition associated with elastic tissue abnormalities. © 2007 Wiley‐Liss, Inc.
Homozygosity for a novel splice site mutation in the cardiac myosin‐binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
Authors: Xin Baozhong , Puffenberger Erik , Tumbush John , Bockoven J.R. , Wang Heng
Published: October 2007

Hypertrophic cardiomyopathy is typically inherited in an autosomal dominant pattern and has a variable age of onset and prognosis. Mutations in the myosin‐binding protein C (MYBPC3) gene are one of the most frequent genetic causes of the disease. Patients with MYBPC3 mutations generally have a late onset and a relatively good prognosis. We report here more than 20 Old Order Amish children with severe neonatal hypertrophic cardiomyopathy caused by a novel homozygous splice site mutation in the MYBPC3 gene. The affected children typically presented with signs and symptoms of congestive heart failure during the first 3 weeks of life. Echocardiography revealed hypertrophic non‐obstructive cardiomyopathy. These children had a life span averaging 3–4 months. All patients died from heart failure before 1 year of age unless they received a heart transplant. A genome‐wide mapping study was performed in three patients. The disease related gene was localized to a 4.6 Mb region on chromosome 11p11.2‐p11.12. This homozygous block contained MYBPC3, a previously identified cardiomyopathy related gene. We identified a novel homozygous mutation, c.3330 + 2T > G, in the splice‐donor site of MYBPC3 intron 30. The mutation resulted in skipping of the 140‐bp exon 30, which led to a frame shift and premature stop codon in exon 31 (p.Asp1064GlyfsX38). We have found a substantial incidence of this phenotype in Old Order Amish communities. It is also concerning that many unidentified heterozygous individuals who are at risk for development of hypertrophic cardiomyopathy do not receive proper medical attention in the communities. © 2007 Wiley‐Liss, Inc.
Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review
Authors: Rodríguez L. , Liehr T. , Mrasek K. , Mansilla E. , Martínez‐Fernández M.L. , Garcia A. , Martínez‐Frías M.L.
Published: October 2007

Small supernumerary marker chromosomes (sSMC) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know the clinical manifestations associated with them, because such knowledge depends on the size, presence of euchromatic material, degree of mosaicism and/or uniparental disomy (UPD). Pure trisomy of the whole arm of chromosome 18 (18p), has been described in only a few cases and the general consensus is that there is a mild phenotypic effect. Here we report on a newborn male presenting with an atrial septal defect and a club foot. The high resolution G‐band karyotype (550–850 bands) and the molecular cytogenetic techniques revealed in all cells the presence of an sSMC, which was a complex derivative from the short arm of a chromosome 18 (18p) and a centromere of a chromosome 13/21. His healthy mother had the same sSMC in all analyzed cells. With the present case, we support the previous suggestion that this unusual chromosome trisomy 18p has little clinical repercussions. © 2007 Wiley‐Liss, Inc.
Genotype/phenotype correlations in two patients with 12q subtelomere deletions
Authors: Niyazov Dmitriy M. , Nawaz Zafar , Justice April N. , Toriello Helga V. , Martin Christa Lese , Adam Margaret P.
Published: October 2007

Subtelomeric imbalances have been implicated in developmental delay and mental retardation (MR) and described for most chromosomes. This study reports the first detailed description of two individuals with de novo 12q subtelomere deletions and high‐resolution mapping of their deletion size with oligonucleotide array CGH for genotype/phenotype comparisons. Patient 1 is an 8‐year‐old male with borderline mild MR, food‐seeking behavior, obesity, no significant dysmorphic facial features, abnormal hair whorl pattern, brachydactyly and mild clinodactyly. Patient 2 is a 12‐year‐old male with mild MR, food‐seeking behavior, obesity, short stature, mild dysmorphic facial features, multicystic kidney and unilateral cryptorchidism. Both patients share a deleted region of ∼1.6 Mb, including 14 known genes, which perhaps contributed to their similar phenotypes. However, Patient 2 has more severe MR and organ system involvement, possibly due to the larger deletion size (∼4.5 Mb) including an additional eight genes, although it is difficult to make phenotype/genotype correlations based on only two patients. Due to the relatively mild presentation of both of our patients, we propose that a proportion of individuals with subtelomeric imbalances may go undetected and therefore, recommend subtelomeric studies be carried out for cases of unexplained mild MR or isolated learning disability (LD) with behavioral problems in the absence of major dysmorphic features or birth defects. In addition, 12q subtelomeric deletions should be considered in the differential diagnosis of patients presenting with food‐seeking behavior and resultant obesity, as well as those referred to rule out Prader–Willi syndrome. © 2007 Wiley‐Liss, Inc.
van den Ende–Gupta syndrome: Laryngeal abnormalities in two siblings
Authors: Carr Christopher W. , Carron Jeffrey D. , Lachman Ralph S. , Abdul‐Rahman Omar A.
Published: October 2007

In 1992, van den Ende et al. first reported an autosomal recessive multiple congenital anomaly syndrome characterized by blepharophimosis, arachnodactyly, and congenital contractures in a Brazilian girl born to consanguineous parents. Since then, nine total patients have been reported with van den Ende–Gupta syndrome (VDEGS), and the syndrome's phenotype has been found to also include additional dysmorphic facial features, palatal abnormalities, and slender skeletal features. We present two African‐American sisters born to nonconsanguineous parents who have been diagnosed with VDEGS. Both sisters developed stridor and were found to have an unusual malformation characterized by large, globular cuneiform cartilages, shortened aryepiglottic folds, a tightly coiled epiglottis, and laryngomalacia. Both patients underwent supraglottoplasty with a successful outcome. A review of the literature reveals that airway problems have been reported in a previous patient. However, no specific airway anomaly has been reported. We suggest that all patients with VDEGS and stridor undergo direct laryngoscopy with consideration for surgical correction. © 2007 Wiley‐Liss, Inc.
Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype
Authors: Van de Laar Ingrid , Dooijes Dennis , Hoefsloot Lies , Simon Marleen , Hoogeboom Jeanette , Devriendt Koenraad
Published: October 2007

CHARGE syndrome is characterized by a wide clinical variability. During the past years the phenotypic spectrum was markedly expanded. Limb anomalies were initially not recognized as part of the phenotype but more recently mild limb anomalies were described in approximately 30% of the patients. We report on three patients with several major features of CHARGE syndrome who, in addition, presented severe limb anomalies including monodactyly, tibia aplasia, and bifid femora. Three different heterozygous truncating mutations in the CHD7 gene were detected. It has been hypothesized before that the CHARGE syndrome is caused by a disruption of mesenchymal‐epithelial interaction. Given the expression of the CHD7 gene in the developing limb bud, it was anticipated that limb defects would belong to the spectrum of manifestations of CHARGE syndrome. The present observations provide further support to this hypothesis. © 2007 Wiley‐Liss, Inc.
Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism
Authors: Kates Wendy R. , Antshel Kevin M. , Fremont Wanda P. , Shprintzen Robert J. , Strunge Leslie A. , Burnette Courtney P. , Higgins Anne Marie
Published: October 2007

At least three research groups have reported that autism is diagnosed in up to 20% of children with velocardiofacial syndrome (VCFS). However the degree of phenotypic overlap between VCFS‐affected children with autism and those with idiopathic autism has not been established. The purpose of this study was to define and differentiate the behavioral phenotype of autism in samples of children with either (VCFS) or idiopathic autism. Five groups of children ages 5–15 were included in the between‐group design. Parent report of autism behaviors (based on the Autism Diagnostic Interview‐Revised, ADI‐R) were compared between children with VCFS, children with VCFS and autism (VCFS + autism), siblings of the children with VCFS, a community control group, and a group of children with idiopathic autism. Autism diagnoses were based according to the ADI‐R. Parental responses to the ADI‐R indicated that relative to children with VCFS‐only, children with idiopathic autism and children with VCFS + autism exhibited less make believe play and more rituals, motor stereotypies and repetitive use of objects. However several other core autism behaviors, including difficulties sharing attention, deficits in gestural communication and initiating conversation, and presence of circumscribed interests, appear to be phenotypic VCFS behaviors, characterizing children with VCFS regardless of an autism diagnosis. Accordingly, the autism phenotype in VCFS differs to some extent from that of idiopathic autism. Several features of idiopathic autism are spared in VCFS, and other features appear to be a function of the VCFS phenotype independent of autism. These findings carry implications for clinicians who diagnose and treat VCFS or autism, and for researchers who study genotype–phenotype associations in autism. © 2007 Wiley‐Liss, Inc.
The emotional effects of genetic diseases: Implications for clinical genetics
Authors: McAllister Marion , Davies Linda , Payne Katherine , Nicholls Stuart , Donnai Dian , MacLeod Rhona
Published: October 2007

The aim of this qualitative study was to explore the emotional effects that may be common to many genetic conditions, or risk of genetic conditions, that could be appropriately targeted by clinical genetics services. The study sample comprised 52 individuals. Seven focus groups with patients of clinical genetics services, their representatives from patient support organizations and genetics healthcare providers were conducted. Focus groups were supplemented by 19 face‐to‐face interviews with patients and patient group representatives. Focus groups and interviews were audio taped, transcribed in full, and analyzed using the constant comparative method. Eight emotional effects of genetic diseases were identified: anxiety, worry about risks to children, guilt, anger, uncertainty, sadness and grief, depression, and redemptive adjustment. Two factors were identified that could modify the emotional effects; these were variability of genetic diseases, and lack of diagnosis/inappropriate care. Despite many negative effects of genetic disease being identified, results also suggest that redemptive adjustment is possible where a genetic condition is present in a family. Interventions designed to (1) adjust the modifying conditions and (2) help manage the emotional effects may facilitate adjustment and improve patient outcomes. © 2007 Wiley‐Liss, Inc.
Limb body wall complex and amniotic band sequence in sibs
Authors: Levy Ronaldo , Lacombe Didier , Rougier Yannick , Camus Erick
Published: October 2007

We report on a woman who gave birth consecutively to an infant with limb body wall complex (LBWC) and then to an infant with amniotic band sequence (ABS). This paper reviews the different etiological hypotheses and the classification problems for the amniotic band diseases. No maternal factors were found, but this clinical report suggests further research in this direction, as well as the need to look more closely at the relation between LBWC and ABS. © 2007 Wiley‐Liss, Inc.
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann–Laband syndrome
Authors: Abo‐Dalo Benjamin , Kim Hyung‐Goo , Roes Melanie , Stefanova Margarita , Higgins Anne , Shen Yiping , Mundlos Stefan , Quade Bradley J. , Gusella James F. , Kutsche Kerstin
Published: October 2007

Zimmermann–Laband syndrome (ZLS) is a rare autosomal dominant inherited disorder characterized by a coarse facial appearance, gingival fibromatosis, and absence or hypoplasia of the terminal phalanges and nails of hands and feet. Additional, more variable features include hyperextensibility of joints, hepatosplenomegaly, mild hirsutism, and mental retardation. Mapping of the translocation breakpoints of t(3;8) and t(3;17) found in patients with the typical clinical features of ZLS defined a common breakpoint region of ∼280 kb located in 3p14.3, which includes the genes CACNA2D3 and WNT5A. Breakpoint cloning revealed that both translocations most likely occurred by non‐homologous (illegitimate) recombination. Mutation analysis of nine genes located in 3p21.1‐p14.3, including CACNA2D3, which is directly disrupted by one breakpoint of the t(3;17), identified no pathogenic mutation in eight sporadic patients with ZLS. Southern hybridization analysis and multiplex ligation‐dependent probe amplification (MLPA) did not detect submicroscopic deletion or duplication in either CACNA2D3 or WNT5A in ZLS‐affected individuals. Mutation analysis of nine conserved nongenic sequence elements (CNEs) in 3p21.1‐p14.3, which were identified by interspecies comparison and may represent putative regulatory elements for spatiotemporally correct expression of nearby genes, did not show any sequence alteration associated with ZLS. Taken together, the lack of a specific coding‐sequence lesion in the common region, defined by two translocation breakpoints, in sporadic patients with ZLS and an apparently normal karyotype suggests that either some other type of genetic defect in this vicinity or an alteration elsewhere in the genome could be responsible for ZLS. © 2007 Wiley‐Liss, Inc.
Association of the ENGRAILED 2 (EN2) gene with autism in Chinese Han population
Authors: Wang Lifang , Jia Meixiang , Yue Weihua , Tang Fulei , Qu Mei , Ruan Yan , Lu Tianlan , Zhang Handi , Yan Hao , Liu Jing , Guo Yanqing , Zhang Jishui , Yang Xiaoling , Zhang Dai
Published: October 2007

Human ENGRAILED 2 (EN2) gene is localized to 7q36, an autism susceptibility locus. En2 knockout mice display hypoplasia of cerebellum and a decrease in the number of Purkinje cell, which are similar to those reported for individuals with autism. Furthermore, deficits in social behavior were detected in En2−/− mice. Two recent studies have demonstrated that two intronic SNPs (rs1861972, rs1861973) in the EN2 gene are significantly associated with autism. To investigate whether this finding could be replicated in Chinese Han population, we performed the association study between eight single nucleotide polymorphisms (SNPs) of the EN2 gene and autism in 210 Chinese Han trios, using the family‐based association test (FBAT). The present study demonstrated that a preferential transmission of the rs3824068 A‐allele to affected offspring (A > G: Z = 2.399, P = 0.0165). After the Bonferroni correction, this statistical significance of preferential transmission did not remain. However, when haplotypes were constructed with multiple markers, a number of haplotypes including three two‐marker haplotypes, nine three‐marker haplotypes, one four‐marker haplotype, and one six‐marker haplotype, all of which contain the major allele A of rs3824068, displayed significantly associated with autism. These results were still significant after using the permutation method to obtain empirical P values. Thus, our data provide evidence that the EN2 gene may be implicated in the predisposition to autism in the Chinese Han population. © 2007 Wiley‐Liss, Inc.
EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome
Authors: Zinn Andrew R. , Kushner Harvey , Ross Judith L.
Published: October 2007

The neurocognitive phenotype of Turner syndrome (TS) includes deficits in social cognitive skills such as recognition of the facial affect expressing fear. A TS social cognition locus was previously mapped to a 5 megabase interval of Xp11.3‐p11.4 by Good et al. 2003. A recent study by these same workers found evidence for association of a SNP in the EFHC2 gene, rs7055196, within this interval with fear recognition in 45,X TS. As EFHC2 was not a biological candidate gene for this phenotype a priori, we sought to replicate their finding in an independent cohort of 45,X TS subjects, using the same instrument to measure facial affect fear recognition. In contrast to the previous results, we find no evidence of an association between rs7055196 genotype and fear recognition. Other variations in EFHC2 and other candidate genes should be tested for association with social cognition in 45,X TS. © 2007 Wiley‐Liss, Inc.
Association of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHD
Authors: Tharoor Hema , Lobos Elizabeth A. , Todd Richard D. , Reiersen Angela M.
Published: October 2007

Gene polymorphisms of the 3′ untranslated region (3′‐UTR) of the dopamine transporter (DAT1), Dopamine receptor exon 3 D4 variable number tandem repeat (DRD4VNTR), nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and serotonin transporter promoter (SLC6A4‐5HTTLPR) are under consideration as potential risk factors for attention‐deficit/hyperactivity disorder (ADHD). A post‐hoc attempt was made to investigate the association between the allelic variations of these candidate genes and retrospective parental report of response to methylphenidate in an ADHD‐enriched, population‐based twin sample. Subjects (N = 243) were selected from the twin sample based on parent report that the child had been treated with methylphenidate for ADHD symptoms. The functional polymorphisms screened were the VNTR located in the 3′‐UTR of the dopamine transporter, DRD4 VNTR, CHRNA4 (rs1044396 and rs6090384) and the long (LA and LG) and short (S) forms of the serotonin transporter promoter region. Logistic regression did not demonstrate a significant association between methylphenidate treatment response and the relevant polymorphisms. The sample size had high power to detect effect sizes similar to those reported in some prior methylphenidate pharmacogenetic studies; however, the categorical (yes/no) measure of parent‐reported treatment response may not have been sensitive enough to pick up statistically significant differences in treatment response based on genotype. Further studies including quantitative measures of treatment response are warranted. © 2007 Wiley‐Liss, Inc.
Changes in food processing and occlusal dental wear during the early agricultural period in northwest Mexico
Authors: Watson James T.
Published: October 2007

Crown dimensions and occlusal surface wear rate and wear plane were evaluated using paired first and second mandibular molars from a sample of 84 Early Agricultural period (1600 B.C.–A.D. 200) skeletons from northwest Mexico. Although this period represents a major shift in subsistence strategies in the Sonoran Desert, from food‐foraging to agriculture, archaeological and dental pathology studies have identified this period as one of relative dietary stability. It was therefore predicted that very little variation in occlusal wear would have occurred between the early phase (San Pedro: 1600–800 B.C.) and late phase (Cienega: 800 B.C.–A.D. 200). Comparison of crown diameters identified some phenotypic differences between sexes but not between archaeological phases. Molar occlusal surfaces were then divided into four quadrants, and wear scores recorded for each quadrant. Principle axis analysis was performed between total wear scores of paired, adjacent first and second mandibular molars to assess rate and occlusal wear plane over time. The analysis demonstrated that both wear rate and wear plane increased from the early to the late phase of the Early Agricultural period. These results indicate that although diet may have indeed remained stable during this period in the Sonoran Desert increases in the rate of wear and wear plane may reflect changes in food‐processing techniques. It is suggested that more intensive processing of agricultural products during the Cienega phase simultaneously softened the diet to create more tooth‐contact wear and introduced more grit to cause faster and more angled wear on the molar occlusal surfaces. Am J Phys Anthropol, 2008. © 2007 Wiley‐Liss, Inc.
Biogeochemical and craniometric investigation of dietary ecology, niche separation, and taxonomy of Plio‐Pleistocene cercopithecoids from the Makapansgat Limeworks
Authors: Fourie Nicolaas H. , Lee‐Thorp Julia A. , Ackermann Rebecca Rogers
Published: October 2007

Three sympatric fossil cercopithecoid genera (Cercopithecoides, Parapapio, and Theropithecus) occur in Members 3 and 4 at the Makapansgat Limeworks hominin locality, South Africa, and their presence in a single ecosystem suggest a certain degree of ecological and/or dietary differentiation between taxa. Here, we explore the extent of dietary niche separation amongst these taxa using stable isotope (13C/12C, 18O/16O) and trace‐element (Sr, Ba, Ca) analyses of fossil tooth enamel. In particular we searched for evidence of subtle niche separation between the more closely related, morphologically similar taxa of the genus Parapapio, as uncertainties exist around their taxonomy and taxonomic identification. Given these uncertainties, craniometric analyses were also performed to ground the dietary interpretations in a morphological context. The results found no clear taxonomic signal in the craniometric data for the Parapapio sample, and further indicate that this sample was no more variable morphologically than a single, geographically circumscribed, extant chacma baboon sample. In contrast, two overlapping dietary ecologies were found within this same Makapansgat Parapapio sample. Additionally, two widely differing dietary ecologies were found within the Cercopithecoides williamsi sample, while results for Theropithecus darti indicate a predominantly C4 diet. Hence, although biogeochemical dietary indicators point towards distinct dietary ecologies within and between fossil genera at Makapansgat, within the genus Parapapio disjunctions exist between the dietary categories and the taxonomic assignment of specimens. Am J Phys Anthropol, 2008. © 2007 Wiley‐Liss, Inc.
Clear polyurethane dispersions of nanometer size derived from carboxylic polycaprolactonediols
Authors: Lee Da‐Kong , Tsai Hong‐Bing , Tsai Ruey‐Shi
Published: October 2007

Aqueous polyurethanes dispersions of nanometer size derived from various carboxylic polycaprolactonediols of different molecular weights, carboxylic diols, including 2,2‐di(hydroxymethyl)propanoic acid (DMPA), 2,2‐di(hydroxymethyl)butanoic acid (DMBA), and di(4‐isocyanatocyclohexyl)methane (HMDI) were prepared by a method in which the dispersing procedure was modified to enhance the molecular weight. The molecular weight, particle size, and UV–vis spectra of the polyurethane dispersions were investigated. The tensile properties of the cast films were determined. The modified dispersing procedure gave polyurethane dispersions with higher molecular weight and better tensile strength. As the molecular weight of the carboxylic polycaprolactonediol decreases, the content of the ionic groups increases, the particle size decreases accordingly. As the molecular weight of the carboxylic polycaprolactonediol used is 1000 g/mol or below, the polyurethanes dispersions become completely clear. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Removal of phosphate ions with a chemically modified chitosan/metal‐ion complex
Authors: Shimizu Yoshiaki , Nakamura Satoshi , Saito Yoshihiro , Nakamura Takeo
Published: October 2007

The adsorption of metal ions (Mo6+, Cu2+, Fe2+, and Fe3+) was examined on chemically modified chitosans with a higher fatty acid glycidyl (CGCs), and the adsorption of Cu2+ was examined on ethylenediamine tetraacetic acid dianhydride modified CGCs (EDTA‐CGCs) synthesized by the reaction of the CGCs with ethylenediamine tetraacetic acid dianhydride. The adsorption of phosphate ions onto the resulting substrate/metal‐ion complex was measured. Mo6+ depicted remarkable adsorption toward the CGCs, although all the Mo6+ was desorbed under the adsorption conditions of the phosphate ions. The other metal ions were adsorbed to some extent on CGCs by chelating to the amino group in the substrate, except for CGC‐1, which had the highest degree of substitution (83.9%). Considerable amounts of Fe2+ were adsorbed onto CGCs; however, only a limited number of phosphate ions was adsorbed onto the substrate/metal‐ion complex. As a result, the following adsorbent/metal‐ion complexes gave higher adsorption ability toward phosphate ions: CGC‐4/Cu2+, CGC‐4/Fe3+, and EDTA‐CGC‐3/Fe3+. Where, CGC‐3 is a chemically modified chitosan with the degree of substitution of 26.5 percentage, and CGC‐4 is one with the degree of substitution of 16.0 percentage. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Effects of laser irradiation on polyester textile properties
Authors: Kan C. W.
Published: October 2007

Modifications in textile properties of polyester because of laser irradiation were studied. Properties included fabric weight, fiber diameter, tensile strength and elongation, yarn abrasion, bending, surface luster, wetting, air permeability as well as crystallinity. Some properties were affected significantly while others were found unchanged. Besides, some properties were positively affected and some were adversely changed. Generally speaking, laser irradiation could not affect the bulk property of polymer because of its low penetration depth, and hence, the effect of the laser irradiation on the bulk and structural properties was limited. However, the performance and comfort properties of the laser irradiated polyester could be largely affected by laser irradiation as these properties could have been changed considerably if the surface was modified. © 2007 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Association study of ABCB1 and CYP3A5 gene polymorphisms with sirolimus trough concentration and dose requirements in Chinese renal transplant recipients
Authors: Miao Li‐Yan , Huang Chen‐Rong , Hou Jian‐Quan , Qian Mei‐Ying
Published: October 2007

The objective of this study was to investigate the possible association of the ABCB1 gene C3435 T polymorphism and the CYP3A5 gene A6986G polymorphism with sirolimus (SRL) trough concentration and dose requirements in Chinese stable renal transplant recipients. Blood samples were collected from 105 healthy volunteers and 50 renal transplant patients, whose polymorphisms of the ABCB1 and CYP3A5 genes were determined by polymerase chain reaction (PCR)‐restriction fragment length polymorphism (RFLP). Plasma concentrations of SRL were determined with HPLC. The allele frequencies of the ABCB1 mutation in Chinese healthy volunteers and renal transplant recipients were 51.0% and 44.0% (p>0.05), while the allele frequencies of the CYP3A5 mutation were 72.9% and 71.0% (p>0.05). The SRL concentration/dose ratio (C/D) in patients with CYP3A5*3/*3 were significantly higher than that of those with*1 allele (p<0.05). However, no significant differences were observed between C/D and ABCB1 SNPs (p>0.05). These results confirm that when treated with a SRL‐based therapy and low‐dose steroids, patients carrying the CYP3A5*1 allele required significantly more SRL to achieve adequate blood trough concentrations. In patients with SRL‐based therapy, genotyping of the CYP3A5 genes may help to optimize the SRL management in renal transplant recipients. Copyright © 2007 John Wiley & Sons, Ltd.
Effect of atorvastatin on the intravenous and oral pharmacokinetics of verapamil in rats
Authors: Choi Dong‐Hyun , Chang Kyong‐Sig , Hong Soon‐Pyo , Choi Jun‐Shik , Han Hyo‐Kyung
Published: October 2007

The present study aimed to investigate the effect of atorvastatin on the intravenous and oral pharmacokinetics of verapamil in rats. The pharmacokinetic parameters of verapamil were measured after an oral (9 mg/kg) or intravenous (3 mg/kg) administration of verapamil to rats in the presence and absence of atorvastatin. Compared with the control given verapamil alone, the concurrent use of 1.5 mg/kg of atorvastatin significantly increased the oral exposure of verapamil in rats. The AUC and Cmax of verapamil increased by 70% and 61%, respectively in the presence of atorvastatin (1.5 mg/kg), while there was no significant change in Tmax and the terminal plasma half‐life (T1/2) of verapamil. Accordingly, the presence of atorvastatin significantly (p<0.05) increased the bioavailability of verapamil in rats. In contrast, atorvastatin had no effect on any pharmacokinetic parameters of verapamil given intravenously, implying that atorvastatin may improve the oral bioavailability of verapamil by reducing the prehepatic extraction of verapamil most likely mediated by P‐gp and/or CYP3A4. In conclusion, coadministration of atorvastatin significantly enhanced the oral exposure of verapamil in rats without a change in the systemic clearance of intravenous verapamil, suggesting a potential drug interaction between verapamil and atorvastatin via the modulation of prehepatic extraction. Copyright © 2007 John Wiley & Sons, Ltd.
New method for the simultaneous estimation of intrinsic hepatic clearance and protein binding by matrix inhibition
Authors: Uchimura Takahide , Kato Motohiro , Tachibana Tatsuhiko , Arai Shinichi , Nabuchi Yoshiaki , Saito Kimitoshi , Kinoshita Haruki
Published: October 2007

The purpose of this study was to develop a method for estimating the hepatic clearance (CLh) without using a protein binding test. This method allows the simultaneous evaluation of the intrinsic hepatic clearance (CLint) with a correction for microsomal binding, and the free fraction in the serum (fu). It uses the decrease in metabolic velocity achieved by decreasing the free fraction of a compound in the incubation mixture (fuinc) by the addition of serum, and by changing the microsomal protein concentration. This method is denoted as the ‘matrix inhibition method’, because it uses the inhibition of the metabolic velocity by the incubation matrix. The metabolic rates of eight compounds (diazepam, imipramine, warfarin, and compounds A–E) were evaluated under several incubation conditions using rat serum and microsomes. The correlation ofCLintevaluated using the method and using equilibrium dialysis after theCLintwas corrected for microsomal binding wasr = 0.968. The correlation offu · CLintwasr = 0.996. Although the method required a high enoughfuandfumicrosomesdifference among the reaction conditions for each compound, it could evaluateCLintandfusimultaneously and easily by adding additional reaction conditions to the metabolic stability tests performed in ADME screening. Copyright © 2007 John Wiley & Sons, Ltd.
Identification and human pharmacokinetics of dihydroergotoxine metabolites in man: preliminary results
Authors: Bicalho Beatriz , Giolo Juliana Marconi , Lilla Sergio , De Nucci Gilberto
Published: October 2007

Dihydroergotoxine is a mixture of semi‐synthetic ergot alkaloids mainly used for age‐related cognitive impairment. In this study, dihydroergotoxine (30 µM) was added to incubates of rat and bovine liver microsomes, and the resulting major metabolites were identified as hydroxy‐dihydroergocornine, hydroxy‐dihydroergocryptine and hydroxy‐dihydroergocristine on the basis of molecular mass measurements, determined with a time‐of‐flight mass spectrometer. The relevance of these to humans was then investigated by simultaneously monitoring dihydroergotoxine and its hydroxy‐metabolites in human plasma by LC‐MS/MS after oral dosing of dihydroergotoxine mesylate (27 mg) to a healthy volunteer (male, age 45, height 1.93 m, weight 103 kg). In this preliminary approach, the peaks (Cmax) of dihydroergocornine, dihydroergocryptine and dihydroergocristine were about 0.04 µg/l. The peaks (Cmax) of their hydroxy‐metabolites were 0.98, 0.53 and 0.30 µg/l, respectively. In conclusion, in this preliminary approach it was found that hydroxy‐dihydroergocornine, hydroxy‐dihydroergocryptine and hydroxy‐dihydroergocristine were one order of magnitude higher in concentration than their parents in human plasma. Copyright © 2007 John Wiley & Sons, Ltd.