bluuebunny/crossref_metadata_2025_split huggingface dataset:
Modified Rachford‐Rice equations including interfacial contributions and their application to the nucleation process
Authors: Carreón‐Calderón Bernardo , Soria Alberto , Romero‐Martínez Ascención 
Published: November 2009

AbstractThe Rachford‐Rice expressions [Rachford HH, Rice JD, Petroleum Trans AIME 1952;195:327‐328] have been modified to include interfacial contributions in the calculation of the equilibrium coexistence between two macroscopic phases. It is shown that two‐phase equilibrium states for first‐order phase transitions from nucleation to the presence of evolved macroscopic phases can be characterized by using these generalized expressions. Thus, this new treatment allows the determination of the critical inclusion of nucleation of the so‐called dispersed phase in a way similar to the determination of incipient new‐phase formation points of a saturated phase on the binodal curve. © 2009 American Institute of Chemical Engineers AIChE J, 2010
Analysis of clogging behaviors of diatomaceous ceramic membranes during membrane filtration based upon specific deposit
Authors: Iritani Eiji , Katagiri Nobuyuki , Tadama Tomoaki , Sumi Hiroaki 
Published: November 2009

AbstractFouling behaviors in membrane filtration of dilute suspension of polystyrene latex (PSL) were examined under constant‐pressure conditions using diatomaceous ceramic membranes which are semi‐permeable to the PSL. Flux decline behaviors were evaluated in consideration of the effect of the solid permeation through the membrane. The conventional characteristic filtration equation was modified by applying the Kozeny‐Carman equation to the filtrate flow through the membrane pores. In the model, the porosity and specific surface area of the membrane were represented by unique functions of the solid deposit retained in the membrane pores. The variations of the filtration rate and filtrate volume with the filtration time were accurately described based upon the modified characteristic filtration equation. It was revealed that the extent of the membrane blocking per unit deposit load increased with the decrease in the pore size of the membrane and with decreasing pressure, but was little influenced by the suspension concentration. © 2009 American Institute of Chemical Engineers AIChE J, 2010
Asbestos‐related cancers among 28,300 military servicemen in the Royal Norwegian Navy
Authors: Strand Leif Aage , Martinsen Jan Ivar , Koefoed Vilhelm F. , Sommerfelt‐Pettersen Jan , Grimsrud Tom Kristian 
Published: November 2009

AbstractIntroductionThis study focus on the incidence of asbestos‐related cancers among 28,300 officers and enlisted servicemen in the Royal Norwegian Navy. Until 1987, asbestos aboard the vessels potentially caused exposure to 11,500 crew members.MethodsStandardized incidence ratios (SIR) were calculated for malignant mesothelioma, lung cancer, and laryngeal, pharyngeal, stomach, and colorectal cancers according to service aboard between 1950 and 1987 and in other Navy personnel.ResultsIncreased risk of mesothelioma was seen among engine room crews, with SIRs of 6.23 (95% CI = 2.51–12.8) and 6.49 (95% CI = 2.11–15.1) for personnel who served less than 2 years and those with longer service, respectively. Lung cancer was nearly 20% higher than expected among both engine crews and non‐engine crews. An excess of colorectal cancer bordering on statistical significance was seen among non‐engine crews (SIR = 1.14; 95% CI = 0.98–1.32). Land‐based personnel and personnel who served aboard after 1987 had lower lung cancer incidence than expected (SIR = 0.77; 95% CI = 0.64–0.92). No elevated risk of laryngeal, pharyngeal, or stomach cancers was seen.ConclusionThe overall increase (65%) in mesotheliomas among military Navy servicemen was confined to marine engine crews only. The mesothelioma incidence can be taken as an indicator of the presence or absence of asbestos exposure, but it offered no consistent explanation to the variation in incidence of other asbestos‐related cancers. Am. J. Ind. Med. 53:64–71, 2010. © 2009 Wiley‐Liss, Inc.
Nonsyndromic alar clefts: Report of five Brazilian patients
Authors: Richieri‐Costa Antonio , Guion‐Almeida Maria Leine 
Published: November 2009

AbstractNonsyndromic alar clefts are rare and they range from a small notch to variable size of clefts of the nasal ala. Usually they are restricted to the alar region, but other minor anomalies such as midline nasal sinuses and small midline or “northbound” clefts can be present. To date all reported cases of nonsyndromic alar clefts have been sporadic. Here we report on five new cases of isolated and nonsyndromic alar clefts. © 2009 Wiley‐Liss, Inc.
Small supernumerary marker chromosome originating from chromosome 10 associated with an apparently normal phenotype
Authors: Sung Pi‐Lin , Chang Sheng‐Ping , Wen Kuo‐Chang , Chang Chia‐Ming , Yang Ming‐Jie , Chen Lin‐Chao , Chao Kuan‐Chong , Huang Chi‐Ying F. , Li Yueh‐Chun , Lin Chyi‐Chyang 
Published: November 2009

AbstractSmall supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare. Only seven cases have been documented, and among those three cases were diagnosed prenatally. We reported on another prenatal diagnosis of a de novo mosaic sSMC in an apparently normal female fetus whose mother had conceived with assisted reproductive technology (ART) procedures. G‐banding analysis of amniotic cells was performed. Spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) studies with chromosome 10‐specific alphoid satellite DNA probe were used to identify the chromosome 10 origin of the sSMC. Further FISH study with telomeric sequence probes showed that the sSMC lacked a hybridization signal, suggesting that the marker could be a ring chromosome. FISH studies using BAC clone probes specific for the regions within 10p11.2, 10q11.1, and 10q11.2 showed that the short arm breakpoint was located between 29.8 and 30.7 Mb from the 10p telomere, and that the long arm breakpoint was located less than 43.6 Mb from the 10p telomere. The karyotype of the fetus was 47,XX,+mar. ish der(10)(SKY+ CEP 10+, CTD‐2130I7+, RP11‐89J23−)/46,XX. Oligonucleotide microarray‐based copy number variations (CNV) analysis was also performed and showed a 6.7 Mb duplication from 10p11.2 to 10q11.2 (36.2–42.9 Mb) with Affymetrix SNP‐array 6.0 genotype: arr cgh. 10p11.2q11.2(CN_519687 → CN_541524) X 3. At the 1‐year follow‐up, the baby did not have any findings of the trisomy 10p syndrome. This observation provided further credence to the concept that additional chromosome material of proximal 10p11.2 may not contribute to the trisomy 10p syndrome phenotype. © 2009 Wiley‐Liss, Inc.
Rare rearrangements: A “jumping satellite” in one family and autosomal location of the SRY gene in an XX male
Authors: Chien Shu‐Chin , Li Yueh‐Chun , Ho Ming , Hsu Pei‐Ching , Teng Ru‐Hsiou , Lin Wei‐De , Tsai Fuu‐Jen , Lin Chyi‐Chyang 
Published: November 2009

AbstractA satellited short arm of the Y chromosome (Yps) is rare. Only one de novo case of Yps has been documented. Here we report the prenatal diagnosis of Yps in a male fetus with a karyotype, 46,XYps. Family chromosome study showed that the father and a sister had a satellited short arm of the X chromosome (Xps). A phenotypically normal male child with the Yps was delivered. This is the first familial case showing a satellite “jumping” from Xp to Yp. We propose that it resulted from a crossover within the pseudoautosomal region 1 (PAR1) on the distal Xp and Yp during paternal meiosis. In addition to the rare translocation mentioned above, relocation of the SRY gene onto an autosome in XX males is also a rare event. Herein we report a phenotypically normal male fetus with a 46,XX karyotype. Fluorescence in situ hybridization (FISH) study showed that the SRY locus had been transferred to the terminal short arm of a chromosome 3. The terminal short arm deletion of this chromosome 3 was also confirmed by FISH study with a subtelomeric probe and the breakpoint of the terminal deletion was estimated between 446 and 664 kb from the 3p telomere by real‐time qPCR study with a gene sequence and STS markers in this region. A healthy boy was delivered at 37 weeks of gestation. At 1‐year follow‐up, the child's growth pattern and development were appropriate for age. © 2009 Wiley‐Liss, Inc.
Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy
Authors: Soysal Yasemin , Balcı Sevim , Hekimler Kuyaş , Liehr Thomas , Ewers Elisabeth , Schoumans Jacqueline , Bui The‐Hung , İçduygu Fadime Mutlu , Kosyakova Nadezda , İmirzalıoğlu Necat 
Published: November 2009

AbstractWe present the clinical and molecular findings in a Turkish child with a de novo mosaic ring derived from chromosome 4 with multiple cell‐lines; the karyotype was 46,XY,r(4)[83]/45,XY, −4[6]/47,XY,r(4),+r(4)[5]/48,XY,r(4),+r(4),+dic r(4)[1]/46,XY[5]. The patient is a 20‐month‐old male who was the first pregnancy of nonconsanguineous parents. The baby was delivered at term with a birth weight of 1,700 g (<3rd centile) and a length of 46 cm. The baby had feeding difficulties and vomiting problems. He started walking at age 2 years and delayed language was observed. Facial appearance was normal, but the ears were large with abnormal structure. The hands showed bilateral clinodactyly of the 5th fingers. He had mild mental retardation, and epilepsy. Analysis of chromosomes showed 46,XY,r(4)(::p16.3 → qter::)[67]/46,XY,r(4;4)(::p16.3 → qter::p16.3 → qter::)[2]/46,XY[3] by multicolor banding (MCB) technique. Array CGH delineated the size of the terminal deletion as 900 kb in 4p16.3. The Wolf–Hirschhorn critical region was preserved even though our patient had mild mental and motor retardation. While the mosaicism of the ring 4 could affect the phenotype, the deleted 900 kb distal deletion and clinical features of the patient may provide further insight into characteristic phenotype of the 4p− related syndromes. © 2009 Wiley‐Liss, Inc.
Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: Study of two cases and review of the literature
Authors: Rossi Michael R. , DiMaio Miriam S. , Xiang Bixia , Lu Kangmo , Kaymakcalan Hande , Seashore Margretta , Mahoney Maurice J. , Li Peining 
Published: November 2009

AbstractVariable clinical presentations of patients with chromosomally detected deletions in the distal long arm (q) of chromosome 4 have been reported. The lack of molecular characterization of the deletion sizes and deleted genes hinders further genotype–phenotype correlation. Using a validated oligonucleotide array comparative genomic hybridization (oaCGH) analysis, we examined two patients with apparent chromosomal deletions in the distal 4q region. In the first, oaCGH identified a 2.441 megabase (Mb) duplication and a 12.651 Mb deletion at 4q34.1 in a pregnant female who transmitted this aberration to her son. This mother has only learning disabilities while her son had both renal and cardiac anomalies in the newborn period. Unrecognized paternal genetic factors may contribute to the variable expression. The second patient is a 17‐year‐old female with a history of Pierre Robin sequence, cardiac abnormalities and learning disabilities. She was diagnosed prenatally with a de novo 4q deletion, and oaCGH defined a 16.435 Mb deletion of 4q34.1–4q35.2. Phenotypic comparison and subtractive genomic mapping between these two cases suggested a 4 Mb region possibly harboring a candidate gene for Pierre Robin sequence. Our cases and review of reported cases with genomic findings indicated the presence of familial variants with variable expressivity as well as de novo or inherited pathogenic simple deletion, duplication and complex deletion and duplication in the distal 4q region. © 2009 Wiley‐Liss, Inc.
Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate
Authors: Neiswanger Katherine , Chirigos Kevin W. , Klotz Cherise M. , Cooper Margaret E. , Bardi Kathleen M. , Brandon Carla A. , Weinberg Seth M. , Vieira Alexandre R. , Martin Rick A. , Czeizel Andrew E. , Castilla Eduardo E. , Poletta Fernando A. , Marazita Mary L. 
Published: November 2009

AbstractNonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect due to both genetic and environmental factors. Whorl lip print patterns are circular grooves on the central upper lip and/or the left and right lower lip. To determine if whorls are more common in families with CL/P than in controls, the Pittsburgh Orofacial Cleft Study collected lip prints from over 450 subjects, that is, individuals with CL/P, their relatives, and unrelated controls—from the U.S., Argentina, and Hungary. Using a narrow definition of lower‐lip whorl, the frequency of whorls in the U.S. sample was significantly elevated in cleft individuals and their family members, compared to unrelated controls (14.8% and 13.2% vs. 2.3%;P = 0.003 and 0.001, respectively). Whorls were more frequent in CL/P families from Argentina than in CL/P families from the U.S. or Hungary. If these results are confirmed, whorl lip print patterns could be part of an expanded phenotypic spectrum of nonsyndromic CL/P. As such, they may eventually be useful in a clinical setting, allowing recurrence risk calculations to incorporate individual phenotypic information in addition to family history data. © 2009 Wiley‐Liss, Inc.
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome
Authors: Shkalim Vered , Baris Hagit N. , Gal Gavriel , Gleiss Ruth , Calderon Shlomo , Wessels Marja , Maat‐Kievit Anneke , Menten Björn , De Baere Elfride , Hennekam Raoul C.M. , Schirmacher Anja , Bale Sherri , Shohat Mordechai , Willems Patrick J. 
Published: November 2009

AbstractWe present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high‐arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high‐resolution comparative genomic hybridization and SEPT9, SHH mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach–Rott syndrome. © 2009 Wiley‐Liss, Inc.
Genotype–phenotype correlation in four 15q24 deleted patients identified by array‐CGH
Authors: Andrieux Joris , Dubourg Christèle , Rio Marlène , Attie‐Bitach Tania , Delaby Elsa , Mathieu Michèle , Journel Hubert , Copin Henri , Blondeel Eléonore , Doco‐Fenzy Martine , Landais Emilie , Delobel Bruno , Odent Sylvie , Manouvrier‐Hanu Sylvie , Holder‐Espinasse Muriel 
Published: November 2009

AbstractMicrodeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array‐CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadias). We report here on four de novo cases having 2.5–6.1 Mb deletions involving 15q24: one 15q23q24.2 (Patient 1) and three 15q24.1q24.2 deletions (Patients 2–4). We correlate phenotype to genotype according to molecular boundaries of these deletions. Since bilateral iris coloboma and severe ano‐rectal malformation were only present in Patient 1, we could link these anomalies to haploinsufficiency of 15q23 genes. Neither hypospadias nor micropenis were present in Patient 3 bearing the smallest deletion, therefore we could define 500 kb 15q24.1 region linked to these anomalies. © 2009 Wiley‐Liss, Inc.
Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation
Authors: Mademont‐Soler Irene , Morales Carme , Madrigal Irene , Margarit Ester , Bruguera Jordi , Clusellas Núria , Martínez José M. , Borrell Antoni , Sánchez Aurora , Soler Anna 
Published: November 2009

AbstractThe identification of an unexpected structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype–phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second fetus had the alternative unbalanced state. Although the first fetus had a structural heart defect, such small imbalances might not give sonographic findings, making their prenatal diagnosis difficult. However, congenital abnormalities are expected in both unbalanced forms of the translocation, including mental retardation, which could be explained by the gene dosage variation of P2RX2. To our knowledge, these are the first published cases reporting this subtype of (Y;12) translocation, in both balanced and unbalanced states. © 2009 Wiley‐Liss, Inc.
Down syndrome: Comments and reflections on the 50th anniversary of Lejeune's discovery
Authors: Neri Giovanni , Opitz John M. 
Published: November 2009

AbstractOver the past some 160 years, the study of Down syndrome (DS) went from early efforts of differentiating it from cretinism (Séguin) to its establishment as a specific nosologic category of mental deficiency (Down) and subsequent attempts to infer its cause. DS was known to be an overwhelmingly sporadic disorder, concordant in MZ and discordant in DZ twins and associated with increased maternal reproductive age (Penrose). Beginning in the 1920s and based in part on phenotype analysis and early cytogenetic insights in Drosophilia, several clinicians (Halbertsma, Waardenburg, Bleyer, Fanconi) and the geneticist C.B. Davenport postulated that DS might be due to a chromosome abnormality; only Davenport, with T.S. Painter, made an actual attempt to perform a clinical/cytological study (with inconclusive results). It was only with the application of the methods of Belling (colchicine, squash preparations) and of T.C. Hsu (hypotonic solution) to PHA‐treated cell cultures in the mid‐late 1950s, that it became possible to study, accurately, the human karyotype and its aberrations, allowing Lejeune et al. and Jacobs et al. in 1959 to discover the cause of DS. Nowadays, aided with powerful molecular methods, it has become possible to attain insights into the pathogenesis of DS based on the study of many duplications/deficiencies of HSA21 in humans and ingeniously constructed cytogenetic rearrangements of MMA16 in the mouse. These suggest a complex epigenetic interaction between genes on HSA21 and many (?most) other genes in the human genome, akin to an attempt at speciation as suggested early during the last century by Blakesly in his work on Datura. Many important ongoing efforts are underway in several countries to understand the developmental biology of DS, offering hope of ultimate amelioration for those averse to pregnancy termination. © 2009 Wiley‐Liss, Inc.
Ontogeny and phyletic size change in living and fossil lemurs
Authors: Ravosa Matthew J. , Daniel Ashley N. 
Published: November 2009

AbstractLemurs are notable for encompassing the range of body‐size variation for all primates past and present—close to four orders of magnitude. Benefiting from the phylogenetic proximity of subfossil lemurs to smaller‐bodied living forms, we employ allometric data from the skull to probe the ontogenetic bases of size differentiation and morphological diversity across these clades. Building upon prior pairwise comparisons between sister taxa, we performed the first clade‐wide analyses of craniomandibular growth allometries in 359 specimens from 10 lemuroids and 176 specimens from 8 indrioids. Ontogenetic trajectories for extant forms were used as a criterion of subtraction to evaluate morphological variation, and putative adaptations among sister taxa. In other words, do species‐level differences in skull form result from the differential extension of common patterns of relative growth?In lemuroids, a pervasive pattern of ontogenetic scaling is observed for facial dimensions in all genera, with three genera also sharing relative growth trajectories for jaw proportions (Lemur, Eulemur, Varecia). Differences in masticatory growth and form characterizing Hapalemur and fossil Pachylemur likely reflect dietary factors. Pervasive ontogenetic scaling characterizes the facial skull in extant Indri, Avahi, and Propithecus, as well as their larger, extinct sister taxa Mesopropithecus and Babakotia. Significant interspecific differences are observed in the allometry of indrioid masticatory proportions, with variation in the mechanical advantage of the jaw adductors and stress‐resisting elements correlated with diet. As the growth series and adult data are largely coincidental in each clade, interspecific variation in facial form may result from selection for body‐size differentiation among sister taxa. Those cases where trajectories are discordant identify potential dietary adaptations linked to variation in masticatory forces during chewing and biting. Although such dissociations highlight selection to uncouple shared ancestral growth patterns, they occur largely via transpositions and retention of primitive size‐shape covariation patterns or relative growth coefficients. Am. J. Primatol. 72:161–172, 2010. © 2009 Wiley‐Liss, Inc.
Synthesis and Biological Evaluation of Novel 5,8‐Disubstituted‐2‐methyl‐2,3,4,5‐tetrahydro‐1H‐pyrido[4,3‐b] indoles as 5‐HT6and H1Receptors Antagonists
Authors: Ivachtchenko Alexandre V. , Frolov Eugene B. , Mitkin Oleg D. , Kysil Volodymyr M. , Khvat Alexander V. , Tkachenko Sergey E. 
Published: November 2009

AbstractSynthesis, biological evaluation, and structure‐activity relationships (SAR) for a series of novel γ‐carboline analogues of Dimebon are described. Among the studied compounds, tetrahydro‐γ‐carboline5b(2,8‐dimethyl‐5‐[cis‐2‐pyridin‐3‐ylvinyl]‐2,3,4,5‐tetrahydro‐carboline) has been identified as the most potent small molecule antagonist, in particular against histamine H1and serotonin 5‐HT6receptors (IC50< 0.45 μM and IC50= 0.73 μM, respectively). A thorough comparative SAR study performed for the tested compounds has revealed significant correlations between the nature of side substituents and the related antagonistic activity.
Arylazoamidoximes and Related Compounds as NO‐modulators
Authors: Schröder Alexander , Kotthaus Jürke , Schade Dennis , Clement Bernd , Rehse Klaus 
Published: November 2009

AbstractThree amidinoarylhydrazines 1, three arylazoamidines 2, and nine arylazoamidoximes 3 have been synthesized and investigated for their potential to function as nitric oxide (NO) modulators. In‐vitro studies demonstrated that 2 and 3 inhibited platelet aggregation (2c, IC50 = 3 μM) which could also be shown in vivo by inhibition of thrombus formation in arterioles (3a, 22%). Moreover, for all compounds antihypertensive effects were examined in vivo with SHR rats, with 2a being the most potent candidate by lowering blood pressure by 19%. However, no common underlying mechanism of action could be shown. Some of these compounds released HNO non‐enzymatically. Incubations with NO synthase isoforms (NOSs) revealed, that compounds 1 to 3 were weak substrates for NOSs but arylazoamidoximes 3 remarkably elevated the NOSs activity in the presence of L‐arginine (3h, up to fivefold). In addition, we examined effects on arginase and dimethylarginine dimethylaminohydrolase (DDAH), two further enzymes involved in the complex regulation of NO biosynthesis, to elucidate whether the observed in‐vivo effects can be traced back to their modulation. Furthermore, the metabolic fate of arylazoamidoximes 3 was addressed by investigation of a possible N‐reductive biotransformation. In summary, novel NO‐modulating compound classes are presented, among which arylazoamidoximes 3 are potent activators of NOS isoforms, and arylazoamidines 2 exert in‐vivo effects by unknown mechanisms.