bluuebunny/crossref_metadata_2025_split huggingface dataset:
Outcome of 122 pregnancies in essential thrombocythemia patients: A report from the Italian registry
Authors: Melillo Lorella , Tieghi Alessia , Candoni Anna , Radaelli Franca , Ciancia Rosanna , Specchia Giorgina , Martino Bruno , Scalzulli Potito Rosario , Latagliata Roberto , Palmieri Fausto , Usala Emilio , Valente Daniela , Valvano Maria Rosa , Cedrone Michele , Comitini Giuseppina , Martinelli Vincenzo , Cascavilla Nicola , Gugliotta Luigi 
Published: July 2009

AbstractPregnancy is a high‐risk event in women with essential thrombocythemia (ET). This observational study evaluated pregnancy outcome in ET patients focusing on the potential impact of aspirin (ASA) or interferon alpha (IFN) treatment during pregnancy. We retrospectively analyzed 122 pregnancies in 92 women consecutively observed in the last 10 years in 17 centers of the Italian thrombocythemia registry (RIT). The live birth rate was 75.4% (92/122 pregnancies). The risk of spontaneous abortion was 2.5‐fold higher than in the control population (P < 0.01). ASA did not affect the live birth rate (71/93, 76.3% vs. 21/29, 72.4%, P = 0.67). However, IFN treatment during pregnancy was associated with a better outcome than was management without IFN (live births 19/20, 95% vs. 73/102, 71.6%, P = 0.025), and this finding was supported by multivariate analysis (OR: 0.10; 95% CI: 0.013–0.846, P = 0.034). The JAK2 V617F mutation was associated with a poorer outcome (fetal losses JAK2 V617F positive 9/25, 36% vs. wild type 2/24, 8.3%, P = 0.037), and this association was still significant after multivariate analysis (OR: 6.19; 95% CI: 1.17–32.61; P = 0.038). No outcome concordance between first and second pregnancies was found (P = 0.30). Maternal complications occurred in 8% of cases. In this retrospective study, in consecutively observed pregnant ET patients, IFN treatment was associated with a higher live birth rate, while ASA treatment was not. In addition, the JAK2 V617F mutation was confirmed to be an adverse prognostic factor. Am. J. Hematol. 2009. © 2009 Wiley‐Liss, Inc.
Temporary workers in Washington State
Authors: Smith Caroline K. , Silverstein Barbara A. , Bonauto David K. , Adams Darrin , Fan Z. Joyce 
Published: July 2009

AbstractBackgroundEvidence regarding the unequal burden of occupational injuries between workers employed by temporary agencies and those in standard employment arrangements is unclear. Studies range from no significant differences in risk to substantial increased risk for temporary workers. The purpose of this study is to compare the workers' compensation experience of a large cohort of temporary agency employed workers with those in standard forms of employment.MethodsWashington State Fund workers' compensation data were obtained for claims with injury dates from January 1, 2003 to June 30, 2006, resulting in 342,540 accepted claims. General descriptive statistics, injury rates (per 10,000 FTE), and rate ratios (temp agency/standard employer) were computed by injury type and industry.ResultsTemporary agency employed workers had higher rates of injury for all injury types, and higher median time loss (40 vs. 27 days) but lower time loss costs (median $1,224 vs. $1,914, P < 0.001) and lower medical costs ($3,026 vs. $4,087, P < 0.001) than standard arrangement workers. Temporary agency workers had substantially higher rates for “caught in” and “struck by” injuries in the construction (IRR 4.93; 95% CI 2.80–8.08) and manufacturing (IRR 4.05; 95% CI 3.25, 5.00) industry sectors.ConclusionTemporary agency employed workers have higher claims incidence rates than those in standard employment arrangements. The rate ratios are twofold higher in the construction and manufacturing industry sectors. More research is needed to explore potential reasons for this disparity in occupational injuries. Industry or some measure of job exposure should be included when comparing injury rates in different types of employment in order to better identify areas for prevention. Am. J. Ind. Med. 53:135–145 2010. © 2009 Wiley‐Liss, Inc.
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation
Authors: Xiao Xueshan , Zhang Qingjiong 
Published: July 2009

AbstractX‐linked ocular albinism (OA1) is the most common form of ocular albinism. Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. However, OA1 has rarely been reported in China. Here, we report on a Chinese family with OA1 and partial deletion of GPR143. An unusual phenotype of iris hyperpigmentation without translucency was observed in the male patient and the carrier mother. There was apparent mosaic pigmentation of the fundus. Our results demonstrate atypical manifestation of OA1 that might enrich our knowledge of phenotypic variation of OA1 among the Chinese population. © 2009 Wiley‐Liss, Inc.
Evolution of a patient with Bohring–Opitz syndrome
Authors: Pierron Sophie , Richelme Christian , Triolo Valérie , Mas Jean Christophe , Griffet Jacques , Karmous‐Benailly Houda , Quere M. , Kaname Tadashi , Lambert Jean‐Claude , Giuliano Fabienne 
Published: July 2009

AbstractWe detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring‐Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. The facial anomalies described in our patient were microcephaly, bitemporal narrowing, “puffy” cheeks, forehead naevus flammeus, hypoplastic orbital ridges, prominent eyes, broad nasal bridge, high arched palate, buccal‐alveola frenula and retrognathism. The magnetic resonance imaging (MRI) of the brain showed a hypoplastic corpus callosum and a narrowed upper cervical canal; and the cervical MRI showed a malformation of the atlas consisting in an agenesis of the anterior arch and an anterior slip of the posterior arch. We focused on her neurological and nutritional evolution. Despite the gastrostomy and a Nissen fundoplication at age 7 months, she still had developmental growth delays overall (<3rd centile). At 3 years 9 months of age, she began to put on weight quickly, which seemed to be atypical. Meanwhile she developed epilepsy, which was controlled with specific drugs. Currently, she is 5 years 9 months old and has significant psychomotor retardation, although this disease is often fatal in early childhood, due to obstructive apnea and unexplained bradycardia. © 2009 Wiley‐Liss, Inc.
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment
Authors: Hunter Matthew , Bruno Damien , Amor David J. 
Published: July 2009

AbstractExtra structurally abnormal chromosomes (ESACs) derived from the X chromosome are rare. We report a non‐mosaic ESAC derived from the X chromosome in a 3‐year‐old female who presented with early hypotonia, developmental delay, hypertelorism, low set ears, and small hands and feet. The breakpoints of the ESAC were mapped by SNP microarray to Xp11.1‐p11.22, a region encompassing 7.17 Mb and containing 110 known or putative genes and excluding the X‐inactivation center. A review of other reported patients with karyotypes that cause functional disomy of proximal Xp allows delineation of a common phenotype comprising early hypotonia, cognitive impairment, hypertelorism, myopia, small hands and feet and abnormal external ears. © 2009 Wiley‐Liss, Inc.
Mosaic trisomy 1q: The longest surviving case
Authors: Patel Chirag , Hardy Graham , Cox Phillip , Bowdin Sarah , McKeown Carole , Russell Alison Bedford 
Published: July 2009

AbstractWe present the longest known surviving case of a male infant with a mosaic complete trisomy 1q. Born at 39 weeks of gestation with respiratory distress, his weight was 3,330 g (25th centile); he had micrognathia, a posterior cleft of palate, abnormal ears and left thumb, syndactyly, and an absent corpus callosum. Initial blood karyotype was normal (46,XY). He died at age 5 months. Autopsy suggested aspiration as the primary cause of death and confirmed the antemortem findings of an absent corpus callosum and atrial septal defect. It also identified some central nervous system, cardiac, gastrointestinal, and lung anomalies not previously recognized. Cytogenetic analysis of skin fibroblasts obtained at autopsy showed a de novo unbalanced translocation between chromosomes 1 and 22: 46,XY,+1,der(1;22)(q10;q10)[25]/46,XY[65] in the cells examined. The previously reported cases had a similar phenotype with birth weight above the 50th centile for gestational age, small mouth, micrognathia, abnormal ears, abnormal fingers, microphthalmia, and hydrocephalus. The present case and a review of the literature delineates the phenotype in trisomy 1q, and reinforces the critical importance of effective communication between specialists, and obtaining permission for autopsy and skin biopsy, in the pursuit of a diagnosis. © 2009 Wiley‐Liss, Inc.
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6
Authors: Castori Marco , Barboni Luana , Duncan Philippa J. , Paradisi Mauro , Laino Luigi , De Bernardo Carmelilia , Robinson David O. , Grammatico Paola 
Published: July 2009

AbstractDarier disease (DD) is an autosomal dominant genodermatosis caused by mutations in ATP2A2 and characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Rare patients are described with variable bone involvement, but this association has never been sufficiently emphasized. Aniridia is a developmental disorder of the eye due to heterozygous mutations in PAX6. DD and aniridia are Mendelian traits mapping on independent loci and have never been reported in association. Here, we describe a 14‐year‐old girl showing the unique combination of DD, multiple bone cysts, and bilateral aniridia. Molecular investigations demonstrated that such a complex phenotype is due to double de novo heterozygous mutations in ATP2A2 and PAX6. Review of the literature indicates that, in DD, bone cysts are true developmental abnormalities of the skeleton. This finding suggests a role for ATP2A2 in bone biology. More systematic studies are expected in order to estimate the true prevalence of bone cysts in DD and the relationship between skeletal changes and ATP2A2 perturbation. © 2009 Wiley‐Liss, Inc.
Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2
Authors: Konno Takayuki , Abe Yuko , Kawaguchi Masakazu , Storm Katrien , Biervliet Martine , Courtens Winnie , Kono Michihiro , Tomita Yasushi , Suzuki Tamio 
Published: July 2009

AbstractOculocutaneous albinism type IV (OCA4 [MIM606574]) caused by mutations of the SLC45A2 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. We had the opportunity to examine a Belgian boy of Moroccan descent with clinically severe OCA and screened the mutation in his SLC45A2 gene. Sequencing of exon 1, of which the PCR product showed aberrant patterns in the SSCP gel, revealed that the patient was a homozygote for p.H38R mutation. We demonstrated that the p.H38R‐mutant protein was functionally incapable of melanin synthesis using melanocyte cultures (under white cells; uw) established from a mouse model of OCA4. This is the second report of the occurrence of OCA4 in a member of an African ethnic group. © 2009 Wiley‐Liss, Inc.
3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs
Authors: Digilio Maria Cristina , Bernardini Laura , Mingarelli Rita , Capolino Rossella , Capalbo Anna , Giuffrida Maria Grazia , Versacci Paolo , Novelli Antonio , Dallapiccola Bruno 
Published: July 2009

AbstractThe 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray‐based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother–daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild‐to‐moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short philtrum and high nasal bridge. Facial anomalies were nonoverlapping and nondistinct, also within each mother–daughter pair. Parental transmission of del 3q29 could be more frequent than previously considered. Malformations are rare, occurring only in single subjects. The phenotypic diversity of affected patients and the lack of distinct dysmorphisms suggest that this disorder cannot be recognized on clinical ground alone. Del 3q29 should be searched in subjects with unexplained mild/moderate mental retardation, microcephaly, and minor nonspecific facial anomalies. © 2009 Wiley‐Liss, Inc.
Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol
Authors: Zarate Yuri A. , Mena Rafael , Martin Lisa J. , Steele Paul , Tinkle Bradley T. , Hopkin Robert J. 
Published: July 2009

AbstractBeckwith–Wiedemann syndrome (BWS) and isolated hemihyperplasia (IHH) are two well known overgrowth conditions that are associated with cancer predisposition. Multiple surveillance protocols have been proposed to detect the most commonly reported tumor types Wilms tumor and hepatoblastoma. We reviewed the history of our patients who were part of this monitoring protocol. Information from 63 cases was collected retrospectively while another 63 control samples for AFP measurement were obtained prospectively. Twenty‐five (40%) patients had an ultrasound abnormality, the most frequent being nephromegaly/size discrepancy. Two patients had well documented cases of tumors/tumor precursor (2/63:3.2%) detected by ultrasound images. Three hundred thirty‐six separate AFP values were available with values above 50,000 ng/ml seen in three patients older than 2 months, one with hepatoblastoma and two other with hemangiomas/hemangioendotheliomas. There was no clear difference in the range of AFP values between previously reported controls, our own normal population and affected patients. In conclusion, ultrasound surveillance detected renal and liver pathology including benign and malignant lesions. The known variability of AFP in normal neonates and patients with BWS makes interpretation difficult in early infancy. Very high AFP values did seem to be correlated with risk for identifiable liver lesions. Determination of the natural changes in AFP levels over time will allow more appropriate comparison. © 2009 Wiley‐Liss, Inc.
Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review
Authors: Puvabanditsin Surasak , Garrow Eugene , Brandsma Erik , Savla Jayshree , Kunjumon Bgee , Gadi Inder 
Published: July 2009

AbstractWe report on a 15‐month‐old girl with a deletion of the distal short arm of chromosome 1p36.3, partial trisomy of the short arm of chromosome 19p13.3, growth and developmental delay, and multiple anomalies including microcephaly, bifrontal prominence, obtuse frontonasal angle, short columella, hypertelorism, sacral dimples, and a bicuspid pulmonary valve. Based on our FISH mapping studies, we estimate the size of the trisomic region of 19p.13.3 to be ∼3.17 Mb, and the region of monosomy for 1p36.3 as 1.3 Mb. This is the first report of a patient with partial trisomy 19p13.3 and partial monosomy p36.3. © 2009 Wiley‐Liss, Inc.
Evaluating for long‐term impact of an environmental education program at the Kalinzu Forest Reserve, Uganda
Authors: Kuhar C.W. , Bettinger T.L. , Lehnhardt K. , Tracy Osuo , Cox D. 
Published: July 2009

AbstractAlthough the importance of evaluating the effectiveness of conservation education programs cannot be underestimated, few evaluations of these programs and their resulting impact on the environment have been conducted. A partnership between scientists, educators, and local administrators on an evaluation program has been developed to evaluate a model of education program evaluation that includes short‐ and long‐term evaluation of (1) knowledge and attitude change, (2) behavior change, and (3) positive biological impact. Previous work has shown short‐term knowledge retention from this education program. In the current study follow‐up evaluations were collected from students at 14 schools outside the Kalinzu Forest Reserve, Uganda. By comparing performance 30 days, 1 year and 2 years after the initial program we demonstrate that knowledge gain from this program is not transient. However, although knowledge is a prerequisite for appropriate conservation actions it does not guarantee appropriate behaviors will be performed. Anecdotal evidence of behavior change and positive biological impact is discussed within the context of the challenges with changing behavior and evaluating the true biological impacts of those behaviors. Ultimately, conservation professionals will need to partner with educators and social scientists to effectively measure the impact of conservation education and human‐based conservation programs on primate populations and their habitat. Am. J. Primatol. 72:407–413, 2010. © 2009 Wiley‐Liss, Inc.
Photodissoziation durch UV‐Licht: Anwendungen in der massenspektrometrischen Proteomforschung
Authors: Ly Tony , Julian Ryan R. 
Published: July 2009

AbstractDie Auswertung aller Informationen in einem Proteom ist eine Herausforderung für die chemische Analyse, doch winkt als Lohn ein enormer Wissenszuwachs. Die Massenspektrometrie bietet eine einmalige Auswahl an Verfahren für verschiedene Ansätze der Proteomanalyse. Vor kurzem wurde gezeigt, dass man mit UV‐Bestrahlung eine eindeutige Fragmentierung von Peptiden und Proteinen induzieren kann. Dabei ist eine unspezifische Dissoziation ebenso möglich wie eine hochspezifische Dissoziation an künstlich eingeführten Chromophoren, nachdem diese ein Photon absorbiert haben. Die Spezifität und Kontrollierbarkeit der Fragmentierung in solchen Experimenten sind besser als bei anderen Fragmentierungsverfahren. Von neuen Methoden, die auf dieser Technik beruhen, erwartet man wichtige Beiträge zur Proteomforschung.
Ultraviolet Photodissociation: Developments towards Applications for Mass‐Spectrometry‐Based Proteomics
Authors: Ly Tony , Julian Ryan R. 
Published: July 2009

AbstractUnraveling of all of the information contained in proteomes poses a tremendous chemical challenge, which is balanced by the promise of potentially transformational knowledge. Mass spectrometry offers an unprecedented arsenal of tools for diverse proteomic investigations. Recently, it was demonstrated that ultraviolet light can be utilized to initiate unique and potentially useful fragmentations in peptides and proteins. Either nonspecific dissociation or highly specific dissociation at engineered chromophoric sites is possible following photon absorption. The level of specificity and control over fragmentation in these experiments is greater than with other fragmentation methods. Novel techniques made possible by this technology are poised to make substantial contributions to the field of proteomics.
Direct coupling reaction between alcohols and allyltrimethylsilane catalyzed by phosphomolybdic acid
Authors: Kadam Santosh T. , Lee Hanbin , Kim Sung Soo 
Published: July 2009

AbstractPhosphomolybdic acid (PMA) is a simple and efficient catalyst for direct coupling reaction of alcohols with allyltrimethylsilane. Direct nucleophilic allylation of alcohol with allyltrimethylsilane proceeds in considerably good yield in the presence of catalytic amount of (0.5 mol %) PMA at room temperature. Copyright © 2009 John Wiley & Sons, Ltd.
Antibacterial, spectral and thermal aspects of drug based‐Cu(II) mixed ligand complexes
Authors: Kharadi G. J. , Patel K. D. 
Published: July 2009

AbstractThe antibiotic agent clioquinol is well known for its drug design and coordinating ability towards metal ions. Copper(II) mixed‐ligand complexes of clioquinol with various uninegative bidentate ligands were prepared. The structure of the synthesized complexes was characterized using elemental analyses, infrared spectra, 1H‐NMR spectra, electronic spectra, magnetic measurements, FAB mass spectrum and thermo gravimetric analyses. The kinetic parameters such as order of reaction (n) and the energy of activation (Ea) are reported using the Freeman–Carroll method. The pre‐exponential factor (A), the activation entropy (ΔS#), the activation enthalpy (ΔH#) and the free energy of activation (ΔG#) were calculated. Complexes were also screened for their in vitro antibacterial activity against a range of Gram‐positive and Gram‐negative bacteria in order to set the precursors for anti‐tumourigenic agent. Copyright © 2009 John Wiley & Sons, Ltd.
Synthesis and characterization of a new conducting polymer based on 4‐(2,5‐di‐2‐thiophen‐2‐yl‐pyrrol‐1‐yl)‐phthalonitrile
Authors: Yavuz Arzu , Bezgin Buket , Önal Ahmet M. 
Published: July 2009

AbstractA new conducting polymer was synthesized by electrochemical polymerization of 4‐(2,5‐di‐2‐thiophen‐2‐yl‐pyrrol‐1‐yl)‐phthalonitrile (SNS‐PN). Electrochemical polymerization of SNS‐PN was performed in acetonitrile/0.2M LiClO4 solvent/electrolyte couple. Characterizations of the resulting polymer P(SNS‐PN) were carried out by cyclic voltammetry, UV–vis, and Fourier transform infrared (FTIR) spectroscopic techniques. Spectroelectrochemical studies revealed that P(SNS‐PN) has an electronic band gap of 2.45 eV and exhibits electrochromic behavior. The switching ability of polymer was also monitored and the percentage transmittance change (ΔT%) was found as 24%. It is also found that P(SNS‐PN) is fluorescent and its fluorescence intensity enhances in the presence of cations. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009
Preparation and conductive properties of polycaprolactone‐grafted carbon black nanocomposites
Authors: Cheng Jianguo , Wang Li , Huo Jia , Yu Haojie , Yang Qiang , Deng Libo 
Published: July 2009

AbstractPolycaprolactone‐grafted carbon black (CB‐g‐PCL) nanocomposites were prepared by surface‐initiated ring‐opening polymerization of ε‐caprolactone on the surface of CB. Thermogravimetric analysis (TGA), differential scanning calorimetry (DSC), atomic force microscope (AFM), X‐ray diffraction (XRD), and polarizing optical microscope (POM) method were employed to characterize the resultant CB‐g‐PCL. The effect of temperature on resistivity of polycaprolactone‐grafted CB (CB‐g‐PCL) nanocomposites was investigated and compared with that of mixture of CB and PCL. It was found that CB‐g‐PCL nanocomposites exhibited positive temperature coefficient (PTC) phenomena between 48 and 51°C, and negative temperature coefficient (NTC) phenomena and between 51 and 54°C. The prepared CB‐g‐PCL nanocomposites have the potential to be temperature‐dependent switch materials. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2009