bluuebunny/crossref_metadata_2025_split huggingface dataset:
Influence of transverse rotating magnetic field on enhancement of solid dissolution process
Authors: Rakoczy Rafał , Masiuk Stanisław 
Published: October 2009

AbstractThe main objective of this work is to study the effect of transverse rotating magnetic field (TRMF) on the enhancement of solid dissolution process in the novel type reactor (TRMFR). The application of magnetically driven fluidization (MDF with homogeneous and heterogeneous systems) on mass transfer process is presented. A study of the effect of ferromagnetic particles content on solid–liquid mass transfer has been made. The experimental investigations are provided for the explanation of the influence on the dissolution process of a solid body to surrounding its dilute solution in a novel type reactor with the ferromagnetic particles suspended. The mass transfer coefficient is calculated from a kinetic equation and correlated in the relationship including standard and magnetic dimensionless numbers. The overall enhancements due to TRMF and MDF were compared. Unique correlating relations were obtained to generalize the experimental database. © 2009 American Institute of Chemical Engineers AIChE J, 2010
Effectiveness of the training program for workers at construction sites of the high‐speed railway line between Torino and Novara: Impact on injury rates
Authors: Bena A. , Berchialla P. , Coffano M.E. , Debernardi M.L. , Icardi L.G. 
Published: October 2009

AbstractBackgroundThere are very few published studies evaluating the impact of safety and health training on injury outcomes in the construction industry. The aim of this study was to assess the impact of the training program on injury rates at a major railway construction project.MethodsThe population consisted of 2,795 workers involved in a safety training program at the construction sites of the high‐speed railway line Torino–Novara. Two types of analyses were carried out in order to assess the effectiveness of the training program in reducing the number of injuries: (i) a pre–post analysis, which took into account the fact that workers were enrolled at different times and the training intervention did not occur at the same time for all subjects; (ii) an interrupted time‐series model, which corrected for the time trend and considered the autocorrelation between individual observations.ResultsTwenty‐nine percent of workers who spent at least 1 day at the construction sites attended at least one training module. Pre–post analysis: At the end of the training program, the incidence of occupational injuries had fallen by 16% after the basic training module and by 25% following the specific modules. Time‐series model: Training led to a 6% reduction in injury rates, which was not statistically significant.ConclusionsThe training program that was implemented had a moderately positive impact on the health of workers. Further studies are being conducted to obtain a more complete assessment of the actual effectiveness of the program in reducing the incidence of injuries. Am. J. Ind. Med. 52:965–972, 2009. © 2009 Wiley‐Liss, Inc.
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome
Authors: Horike Shin‐Ichi , Ferreira Jose Carlos P. , Meguro‐Horike Makiko , Choufani Sanaa , Smith Adam C. , Shuman Cheryl , Meschino Wendy , Chitayat David , Zackai Elaine , Scherer Stephen W. , Weksberg Rosanna 
Published: October 2009

AbstractOver a 10‐year period blood samples were collected from 57 individuals with growth restriction and RSS‐like features. Our goal was to identify epigenetic abnormalities in this cohort, including uniparental disomy of chromosome 7 (UPD7), methylation changes at chromosome11p15, as well as new epigenomic alterations. We evaluated the methylation status of 7 imprinting control regions on chromosomes 7, 11, 14, and 15. UPD7 and chromosome 7 structural abnormalities had been previously identified in five patients. Epigenetic alterations on chromosome 11p15 were identified in 11 patients. Of interest, in 3 of these 11 patients, the epigenetic alterations were limited to the H19 promoter and the distal region of its associated imprinting center, ICR1. In addition, in one patient, we detected methylation changes consistent with maternal UPD at all tested imprinted regions. This patient series suggests that epimutations on chromosome 11p15 can be most efficiently detected in RSS patients by screening for DNA methylation defects at the H19 promoter or the distal region of ICR. © 2009 Wiley‐Liss, Inc.
Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome
Authors: Olioso Giovanna , Passarini Alice , Atzeri Francesca , Milani Donatella , Cereda Anna , Cerutti Marta , Maitz Silvia , Menni Francesca , Selicorni Angelo 
Published: October 2009

AbstractCornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome, characterized by distinctive facial features, generalized hirsutism, growth and cognitive dysfunction, microcephaly and limb abnormalities. Currently mutations of three different genes, NIPBL, SMC1A, and SMC3, are known to be related to the CdLS phenotype with an overall detection rate of about 50%. Few data are available regarding the level of autonomy in everyday life of CdLS patients. Due to the collaboration of the Italian parents' support group, we collected information regarding clinical and behavioral problems and everyday abilities of 45 CdLS patients between 13 and 39 years, using a specific multi‐item questionnaire. To better analyze clinical information we divided our patients into three groups according to age: 13–20, 21–29, and over 30 years. Data from clinical, malformative and behavioral problems were not significantly different from those described for CdLS patients. Regarding personal autonomies this study showed the significant limitations of these individuals. It is interesting to observe that patients between 21 and 29 years, showed the best performance, while those over 30 had more severe difficulties. We suggest that these data be interpretated as a minimum level of autonomy achievable for CdLS adolescent/young adults, as the level of care, rehabilitation and stimulation of these patients has increased in the last 30 years. © 2009 Wiley‐Liss, Inc.
Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter
Authors: Tirado Carlos A. , Henderson Samuel , Uddin Naseem , Stewart Ewa , Iyer Santha , Ratner Ian M. , Matthews Erin , Doolittle Jeffrey , Garcia Rolando , Valdez Federico , Dallaire Stephanie , Appleberry Taylor , Payne Deborah , Collins Robert 
Published: October 2009

AbstractPartial trisomy 2p is typically associated with partial monosomy of another chromosomal segment and results from a balanced translocation in one of the parents. Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes. Several cases initially interpreted as terminal duplications have instead been documented to represent inverted duplications with terminal deletions. Inv dup del(2p) has been reported in patients who manifest the clinical findings of trisomy 2p syndrome. Here we report on a 2‐month‐old girl with inv dup del(2p) and clinical manifestations that overlap those found commonly in partial 2p trisomy, as previously reported in the literature. Her clinical picture helps delineate the phenotype of 2p duplication disorders. © 2009 Wiley‐Liss, Inc.
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
Authors: Solomon Benjamin D. , Pineda‐Alvarez Daniel E. , Balog Joan Z. , Hadley Donald , Gropman Andrea L. , Nandagopal Radha , Han Joan C. , Hahn Jin S. , Blain Delphine , Brooks Brian , Muenke Maximilian 
Published: October 2009

AbstractWe report on a patient with trisomy 21, microophthalmia, neonatal diabetes mellitus, hypopituitarism, and a complex structural brain anomaly who was a member of a large bilineal family with eye anomalies. The patient inherited a different mutation in PAX6 from each parent and is the only known living and second reported patient with compound heterozygosity for mutations in PAX6. PAX6 is a transcription factor involved in eye and brain development and has roles in pancreatic and pituitary development. Clinical evaluation of the propositus and his parents demonstrated the effects of mutations of differing severity in multiple individuals. Published 2009 Wiley‐Liss, Inc.
Array‐based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth
Authors: Raca Gordana , Artzer Amber , Thorson Laura , Huber Suzanne , Modaff Peggy , Laffin Jennifer , Pauli Richard M. 
Published: October 2009

AbstractThis study examined the utility of array‐based comparative genomic hybridization (aCGH) in detecting genetic abnormalities associated with late pregnancy loss. Comparisons were made with classic cytogenetics to test whether aCGH represents a superior methodology for the clinical evaluation of stillbirth. Stillborn infants were selected for aCGH testing from the Wisconsin Stillbirth Service Program (WiSSP) database and tissue bank, based on abnormal clinical findings (presence of at least two abnormalities of two different organs or parts of the body). aCGH analysis was successfully completed in 15 cases which met the clinical criteria and for which sufficient amount of high quality DNA was recovered from archival material. The testing was performed using commercially available 1 Mb BAC arrays. Among 15 tested stillborns, aCGH detected two abnormalities (trisomy 21 and an unbalanced translocation between chromosomes 3 and 10), for an overall detection rate of 13% in stillborns with malformations who had normal or unobtainable cytogenetic results. This preliminary study supports the clinical value of aCGH testing in diagnostic evaluation of stillborns with congenital anomalies. © 2009 Wiley‐Liss, Inc.
The molecular basis of oral‐facial‐digital syndrome, type 1
Authors: Macca Marina , Franco Brunella 
Published: October 2009

AbstractOral–facial–digital syndrome type 1 (OFDI; OFD1; OMIM 311200) is a rare developmental disorder transmitted as an X‐linked dominant condition with embryonic male lethality. OFD1 is characterized by malformation of the oral cavity, face, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This disorder is due to mutations in theOFD1gene that encodes a centrosomal protein localized at the basal bodies at the origin of primary cilia. Characterization of in vitro and in vivo models demonstrated that, similarly to what described for other ciliary proteins, Ofd1 inactivation is associated to defective sonic hedgehog (Shh) and canonical Wnt signaling pathways. Functional studies have demonstrated that OFD1 has a crucial role in the biology of primary cilia thus ascribing this pleiotropic disease to the growing number of disorders associated to dysfunction of primary cilia. OFD1 shares phenotypic similarities with this latter group of disorders, such as cystic kidneys, skeletal, and CNS abnormalities. Future studies will address whether all clinical manifestations of these diseases can be entirely explained by cilia dysfunction or may also be due to direct roles of the proteins involved. © 2009 Wiley‐Liss, Inc.
Liver and kidney disease in ciliopathies
Authors: Gunay‐Aygun Meral 
Published: October 2009

AbstractHepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the term “ciliopathies.” While ADPKD and ARPKD are the most common ciliopathies associated with both liver and kidney disease, variable degrees of renal and/or hepatic involvement occur in many other ciliopathies, including Joubert, Bardet–Biedl, Meckel–Gruber, and oral–facial–digital syndromes. The ductal plate malformation (DPM), a developmental abnormality of the portobiliary system, is the basis of the liver disease in ciliopathies that manifest congenital hepatic fibrosis (CHF), Caroli syndrome (CS), and polycystic liver disease (PLD). Hepatocellular function remains relatively preserved in ciliopathy‐associated liver diseases. The major morbidity associated with CHF is portal hypertension (PH), often leading to esophageal varices and hypersplenism. In addition, CD predisposes to recurrent cholangitis. PLD is not typically associated with PH, but may result in complications due to mass effects. The kidney pathology in ciliopathies ranges from non‐functional cystic dysplastic kidneys to an isolated urinary concentration defect; the disorders contributing to this pathology, in addition to ADPKD and ARPKD, include nephronophithisis (NPHP), glomerulocystic kidney disease and medullary sponge kidneys. Decreased urinary concentration ability, resulting in polyuria and polydypsia, is the first and most common renal symptom in ciliopathies. While the majority of ADPKD, ARPKD, and NPHP patients require renal transplantation, the frequency and rate of progression to renal failure varies considerably in other ciliopathies. This review focuses on the kidney and liver disease found in the different ciliopathies. Published 2009 Wiley‐Liss, Inc.
Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies
Authors: Cardenas‐Rodriguez Magdalena , Badano Jose L. 
Published: October 2009

AbstractMotile cilia have long been known to play a role in processes such as cell locomotion and fluid movement whereas the functions of primary cilia have remained obscure until recent years. To date, ciliary dysfunction has been shown to be causally linked to a number of clinical manifestations that characterize the group of human disorders known as ciliopathies. This classification reflects a common or shared cellular basis and implies that it is possible to associate a series of different human conditions with ciliary dysfunction, which allows gaining insight into the cellular defect in disorders of unknown etiology solely based on phenotypic observations. Furthermore, to date we know that the cilium participates in a number of biological processes ranging from chemo‐ and mechanosensation to the transduction of a growing list of paracrine signaling cascades that are critical for the development and maintenance of different tissues and organs. Consequently, the primary cilium has been identified as a key structure necessary to regulate and maintain cellular and tissue homeostasis and thus its study is providing significant information to understand the pathogenesis of the different phenotypes that characterize these human conditions. Finally, the similarities between different ciliopathies at the phenotypic level are proving to be due to their shared cellular defect and also their common genetic basis. To this end, recent studies are showing that mutations in a given ciliary gene often appear involved in the pathogenesis of more than one clinical entity, complicating their genetic dissection, and hindering our ability to generate accurate genotype–phenotype correlations. © 2009 Wiley‐Liss, Inc.
Making sense of cilia in disease: The human ciliopathies
Authors: Baker Kate , Beales Philip L. 
Published: October 2009

AbstractUbiquitous in nature, cilia and flagella comprise nearly identical structures with similar functions. The most obvious example of the latter is motility: driving movement of the organism or particle flow across the epithelial surface in fixed structures. In vertebrates, such motile cilia are evident in the respiratory epithelia, ependyma, and oviducts. For over a century, non‐motile cilia have been observed on the surface of most vertebrate cells but until recently their function has eluded us. Gathering evidence now points to critical roles for the mono‐cilium in sensing the extracellular environment, and perturbation of this function gives rise to a predictable panoply of clinical problems. We review the common clinical phenotypes associated with ciliopathies and interrogate Online Mendelian Inheritance in Man (OMIM) to compile a comprehensive list of putative disorders in which ciliary dysfunction may play a role. © 2009 Wiley‐Liss, Inc.
Glycosphingolipide – Natur, Funktion und pharmakologische Modulierung
Authors: Wennekes Tom , van den Berg Richard J. B. H. N. , Boot Rolf G. , van der Marel Gijsbert A. , Overkleeft Herman S. , Aerts Johannes M. F. G. 
Published: October 2009

AbstractDie Entdeckung der Glycosphingolipide wird im Allgemeinen Johan L. W. Thudichum zugeschrieben, der 1884 über die chemische Zusammensetzung des Gehirns publizierte. In seinen Studien isolierte er aus ethanolischen Hirnextrakten mehrere Verbindungen, die er als Cerebroside bezeichnete. Eine dieser Verbindungen, Phrenosin (heute als Galactosylceramid bekannt), unterwarf er einer sauren Hydrolyse, aus der drei Komponenten hervorgingen. Eine Komponente identifizierte er als Fettsäure, eine andere als Isomer zur D‐Glucose, heute als D‐Galactose bekannt. Die dritte Komponente mit “alkaloidaler Natur” gab Thudichum “viele Rätsel” auf, weshalb er sie Sphingosin nannte, nach dem mythologischen Rätsel der Sphinx. Derzeit sind Sphingolipide und ihre glycosidierten Derivate Gegenstand intensiver Forschung mit dem Ziel, ihre Funktion für die strukturelle Integrität der Zellmembran, ihre Teilnahme in Erkennungs‐ und Signalübertragungsvorgängen und besonders ihre Beteiligung an pathologischen Prozessen, die als Ursache menschlicher Krankheiten (z. B. von Sphingolipidosen und Typ‐2‐Diabetes) gelten, aufzuklären. Dieser Aufsatz wird auf neuere Befunde zur Biosynthese, Funktion und zum Abbau von Glycosphingolipiden im Menschen eingehen, mit Fokus auf das Glycosphingolipidglucosylceramid. Besondere Aufmerksamkeit richtet sich auf die klinische Bedeutung von Verbindungen, die mit den Faktoren des Glycosphingolipid‐Metabolismus wechselwirken.
Hyoid Skeleton, Its Related Muscles, and Morphological Novelties in the Frog Lepidobatrachus (Anura, Ceratophryidae)
Authors: Fabrezi Marissa , Lobo Fernando 
Published: October 2009

AbstractMany traits of the skull of ceratophryines are related to the capture of large prey independently of aquatic or terrestrial feeding. Herein, detailed descriptions of the development of hyoid skeleton and the anatomy of muscles responsible for hyoid and tongue movements in Lepidobatrachus laevis and L. llanensis are provided and compared with those of other neobatrachians. The aquatic Lepidobatrachus has special features in its hyoid skeleton that integrates a set of derived features convergent with the conditions observed in non‐neobatrachian anurans and morphological novelties (e.g., dorsal dermal hyoid ossification) that deviate from the generalized pattern found in most frogs. Further, reduction of fibers of muscles of buccal floor, reduction or loss of hyoid muscles (m. geniohyoideus rama lateralis, anterior pair of m. petrohyoideus posteriores), small tongue, and simplified tongue muscles are also morphological deviations from the pattern of terrestrial ceratophryines, and other aquatic ceratophryids (e.g., Telmatobius) that seem to be related to feeding underwater. The historical derived features shared with Chacophrys and Ceratophrys involved in megalophagy are conserved in Lepidobatrachus and morphological changes in the hyoglossal apparatus define a unique functional complex among anurans. Anat Rec, 292:1700–1712, 2009. © 2009 Wiley‐Liss, Inc.
Three‐Dimensional Serial Section Computer Reconstruction of the Arrangement of the Structural Components of the Parabronchus of the Ostrich, Struthio Camelus Lung
Authors: Maina John N. , Woodward Jeremy D. 
Published: October 2009

Abstract‘Cubed’ three‐dimensional computer reconstruction (from serial sections) of the exchange tissue (parenchyma) of the lung of the ostrich, Struthio camelus showing the profuse anastomoses of the air capillaries (shown in cyan) and the blood capillaries (shown in red). While the two terminal respiratory units interdigitate very copiously as they interface intimately, thereby optimizing the respiratory surface area, regarding their size and shape, they are not mirror images as has previously been reported nor do they spatially form a counter‐current arrangement, as they have been commonly modelled. See Maina et al., “Three‐Dimensional Serial Section Computer Reconstruction of the Arrangement of the Structural Components of the Parabronchus of the Ostrich, Struthio Camelus Lung,” on page 1685, in this issue.
Impaired sexual function in women with systemic sclerosis: A cross‐sectional study
Authors: Schouffoer A. A. , van der Marel J. , ter Kuile M. M. , Weijenborg P. T. M. , Voskuyl A. , Vliet Vlieland C. W. , van Laar J. M. , Vliet Vlieland T. P. M. 
Published: October 2009

AbstractObjectiveTo compare sexual functioning and distress in women with systemic sclerosis (SSc) with that in healthy controls and determine the association between disease characteristics and sexual function.MethodsWe conducted a cross‐sectional study of 69 women with SSc (ages 18–60 years) and 58 healthy, age‐matched controls. Assessment included the Female Sexual Function Index (FSFI), Female Sexual Distress Scale (FSDS), Hospital Anxiety and Depression Scale, Short Form 36 health survey, sociodemographic characteristics, and in patients only, the Health Assessment Questionnaire.ResultsOf 69 eligible patients with SSc, 37 (54%) responded, in addition to 37 (64%) of 58 controls. The FSFI total score and the subscale scores for lubrication, orgasm, arousal, and pain were significantly lower and the FSDS scores were significantly higher in patients with SSc. Longer disease duration and higher levels of marital dissatisfaction were significantly associated with low sexual function in patients with SSc. Longer disease duration, more depressive symptoms, and the use of antidepressants were significantly associated with sexual distress. Multivariate analyses indicated that marital distress was the only variable significantly associated with low sexual function in patients with SSc (β = 0.40, P < 0.05), whereas depression was the only variable significantly associated with sexual distress (β = 0.32, P < 0.05). The same pattern of associations was found in the healthy control group.ConclusionWomen with SSc reported significantly impaired sexual functioning and more sexual distress then healthy controls. Impaired sexual functioning and sexual distress were associated with marital distress and depressive symptoms. These results indicate that in daily practice, inquiring about sexuality and screening for depressive symptoms is indicated in every patient with SSc, irrespective of their clinical characteristics.