bluuebunny/crossref_metadata_2025_split huggingface dataset:
14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly
Authors: Piccione Maria , Serra Gregorio , Consiglio Valeria , Di Fiore Antonella , Cavani Simona , Grasso Marina , Malacarne Michela , Pierluigi Mauro , Viaggi Chiara , Corsello Giovanni 
Published: May 2012

AbstractInterstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE‐type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis. The deletion of the potential HPE candidate genes NPAS3, EAPP, SNX6, and TULIP1, raises doubts about their pathologic role in determining HPE. It is likely that deletions of HPE genes are not sufficient to cause HPE, and that multiple genetic, chromosomal, and environmental factors interact to determine the variable clinical expression of HPE. This is the first case of a 14q deletion encompassing the HPE8 locus with the only features consistent with HPE‐type anomalies affecting the ocular system (i.e., microphthalmia, coloboma), and without cerebral anomalies specific for HPE. The inclusion of potential HPE candidate genes in the deletion raises the question whether this patient is affected by a less severe form of HPE (HPE microform), or whether he has a new ID/MCA deletion syndrome. © 2012 Wiley Periodicals, Inc.
Ambiguous genitalia: What prenatal genetic testing is practical?
Authors: Adam Margaret P. , Fechner Patricia Y. , Ramsdell Linda A. , Badaru Angela , Grady Richard E. , Pagon Roberta A. , McCauley Elizabeth , Cheng Edith Y. , Parisi Melissa A. , Shnorhavorian Margarett 
Published: May 2012

AbstractConcern for ambiguous genitalia or chromosome‐phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21‐hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith‐Lemli‐Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield. © 2012 Wiley Periodicals, Inc.
Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in theCHST14gene
Authors: Mendoza‐Londono Roberto , Chitayat David , Kahr Walter H.A. , Hinek Aleksander , Blaser Susan , Dupuis Lucie , Goh Elaine , Badilla‐Porras Ramses , Howard Andrew , Mittaz Laureane , Superti‐Furga Andrea , Unger Sheila , Nishimura Gen , Bonafe Luisa 
Published: May 2012

AbstractWe report on a consanguineous, Afghani family with two sisters affected with characteristic facial features, multiple contractures, progressive joint and skin laxity, hemorrhagic diathesis following minor trauma and multisystem fragility‐related manifestations suggestive of a diagnosis of musculocontractural Ehlers–Danlos syndrome (EDS). This novel form of connective tissue disorder was recently reported in patients of Japanese, Turkish, and Indian descent who were formerly classified as having EDS type VIB and has now been recognized to be a part of spectrum including patients previously classified as having adducted thumb‐clubfoot syndrome. We identified a previously unreported mutation in theCHST14gene, which codes for the enzyme dermatan 4‐O‐sulfotransferase. We discuss the prenatal presentation, detailed clinical manifestations, and neurological findings in two sisters with this newly described musculocontractural EDS‐CHST14 type. We demonstrate that fibroblasts from one of our patients produce more chondroitin sulfate than normal and show lower than normal deposition of collagens I and II and fibrillin 1‐containing microfibrills. These findings suggest that the imbalance in the glycosaminoglycan content in developing tissues might interfere with normal deposition of other extracellular matrix components and ultimately contribute to the development of the phenotype observed in these patients. Furthermore, we ruled out the contribution of intrinsic platelet factors to the bleeding diathesis observed in some affected individuals. © 2012 Wiley Periodicals, Inc.
Long‐term survival with diaphanospondylodysostosis (DSD): Survival to 5 years and further phenotypic characteristics
Authors: Scottoline Brian , Rosenthal Scott , Keisari Rami , Kirpekar Rashmi , Angell Cathy , Wallerstein Robert 
Published: May 2012

AbstractWe report on the natural history of diaphanospondylodysostosis (DSD) in the longest known survivor. DSD is a rare form of autosomal recessive vertebral dysotosis recently identified to be caused by a mutation in the BMPER gene. This condition is characterized by absent or severely delayed ossification of vertebral bodies, short broad thorax, short neck, protuberant abdomen, marked respiratory insufficiency, and normal appendicular skeleton. It is one of a number of spinal dysostoses, which are a heterogeneous group of axial skeletal malformations occurring during blastogenesis with continued evolution after birth. Significant medical intervention and at‐home support contributed to the long‐term survival of our patient. The patient had tracheomalacia, which resulted in respiratory insufficiency with thoracic insufficiency syndrome (TIS). Tracheostomy and vertical expandable prosthetic titanium rib (VEPTR) insertion operations ameliorated his symptoms. In addition, comprehensive physical and occupational therapy was performed due to chronic hypotonia. A consistent feature of all described DSD cases thus far are renal findings of dysplasia, nephrogenic rests or nephroblastomatosis, and/or cysts. The patient's renal cysts were monitored with serial ultrasounds at approximately 6‐month intervals. The patient was diagnosed with bilateral renal cysts by ultrasound as a neonate, with eventual diagnosis at approximately 20 months of age with nephroblastoma suggesting this maybe an intrinsic part of DSD. The lack of other cases with nephroblastoma is likely related to the previously reported short period of survival. © 2012 Wiley Periodicals, Inc.
Y‐chromosome diversity in Native Mexicans reveals continental transition of genetic structure in the Americas
Authors: Sandoval Karla , Moreno‐Estrada Andres , Mendizabal Isabel , Underhill Peter A. , Lopez‐Valenzuela Maria , Peñaloza‐Espinosa Rosenda , Lopez‐Lopez Marisol , Buentello‐Malo Leonor , Avelino Heriberto , Calafell Francesc , Comas David 
Published: May 2012

AbstractThe genetic characterization of Native Mexicans is important to understand multiethnic based features influencing the medical genetics of present Mexican populations, as well as to the reconstruct the peopling of the Americas. We describe the Y‐chromosome genetic diversity of 197 Native Mexicans from 11 populations and 1,044 individuals from 44 Native American populations after combining with publicly available data. We found extensive heterogeneity among Native Mexican populations and ample segregation of Q‐M242* (46%) and Q‐M3 (54%) haplogroups within Mexico. The northernmost sampled populations falling outside Mesoamerica (Pima and Tarahumara) showed a clear differentiation with respect to the other populations, which is in agreement with previous results from mtDNA lineages. However, our results point toward a complex genetic makeup of Native Mexicans whose maternal and paternal lineages reveal different narratives of their population history, with sex‐biased continental contributions and different admixture proportions. At a continental scale, we found that Arctic populations and the northernmost groups from North America cluster together, but we did not find a clear differentiation within Mesoamerica and the rest of the continent, which coupled with the fact that the majority of individuals from Central and South American samples are restricted to the Q‐M3 branch, supports the notion that most Native Americans from Mesoamerica southwards are descendants from a single wave of migration. This observation is compatible with the idea that present day Mexico might have constituted an area of transition in the diversification of paternal lineages during the colonization of the Americas. Am J Phys Anthropol 148:395–405, 2012. © 2012 Wiley Periodicals, Inc.
The investigation on the curing process of polysulfide sealant by in situ dielectric analysis
Authors: Zhou Baijie , He Dan , Quan Yiwu , Chen Qingmin 
Published: May 2012

AbstractIn this work, in situ dielectric analysis (DEA) was employed for the first time to the best of our knowledge, to monitor the curing process of polysulfide (PSF) sealant using manganese dioxide (MnO2) as the curing agent, where the gel point and ending point were determined. The obtained results were verified by rheological tests of dynamic mechanical analysis and tensile strength tests. It showed a significant difference between this curing process and those of usual thermosetting materials. The influences of the pH value of the samples and curing temperature were investigated and discussed in detail. Also, activation energies of the curing reaction of the samples with different pH values were calculated. The results proved DEA as a reliable and useful method for in situ monitoring PSF–MnO2 curing process. © 2012 Wiley Periodicals, Inc. J Appl Polym Sci, 2012
Preparation, identification, and evaluation of PEGylated puerarin
Authors: Liu Xia , Ding Zhi‐Shan , Jiang Fu‐Sheng , Ding Xing‐Hong , Jin Bo , Chen Su‐Hong , Lv Gui‐Yuan 
Published: May 2012

AbstractCardiovascular disease is one of the most serious diseases threatening human health. Puerarin has been widely used in china as a cardiovascular agent. However, a major clinical limitation is its adverse effects of hemolysis. We have addressed this issue by PEGylation and synthesized a puerarin prodrug by covalently linking puerarin to the drug carrier monomethoxy‐poly(ethylene glycol) (mPEG). The covalent linkage was validated by UV, FTIR, 1H‐NMR, and matrix‐assisted laser desorption ionization‐time‐of‐flight mass spectrometry. The hemolysis assay showed that the prodrug produced minimal hematotoxicity. The hydrolysis profile showed that the prodrug was stable in a low pH environment and can continuously release the active drug in physiological condition in vitro. A pharmacokinetic study showed a prolongation of the elimination half‐life and a favorable distribution profile in organs, suggesting that the prodrug preparation produced fewer side effects on liver than the injectable form of puerarin normally used. Additionally, the protective effect of the prodrug on acute myocardial ischemia model implied better therapeutic effect than injectable puerarin. We show that the puerarin PEG conjugation is a promising prodrug that produces fewer side effects, exhibits better aqueous solubility, and is more effective than puerarin. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Green composites using switchgrass as a reinforcement for a conjugated linseed oil‐based resin
Authors: Pfister Daniel P. , Larock Richard C. 
Published: May 2012

AbstractSwitchgrass (SWG) has been used as a filler to produce conjugated linseed oil‐based green composites. The effect of the amount of the SWG; the matrix crosslink density; and the incorporation of a compatibilizer, maleic anhydride (MA), on the structure, water absorption, and thermal and mechanical properties of the composites has been investigated. The thermal stability of the composites is primarily dependent on the amount of the SWG fibers, which are far less thermally stable than the linseed oil‐based resin. For the most part, improvements in the mechanical properties can be achieved by increasing the amount of SWG (up to 70 wt %), increasing the amount of the crosslinker, and adding MA to increase the filler–matrix interaction. The uptake of water in the composites is mostly influenced by the loading of the SWG fibers. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Interior synthesizing of ZnO nanoflakes inside nylon‐6 electrospun nanofibers
Authors: Panthi Gopal , Barakat Nasser A. M. , Al‐Deyab Salem S. , El‐Newehy Mohamed , Pandeya Dipendra Raj , Kim Hak Yong 
Published: May 2012

AbstractDoping of the polymeric electrospun nanofibers by metal oxides nanoparticles is usually performed by electrospinning of a colloidal solution containing the metal oxide nanoparticles. Besides the economical aspects, electrospinning of colloids is not efficient compared with spinning of sol–gels, moreover well attachment of the solid nanoparticles is not guaranteed. In this study, reduction of zinc acetate could be performed inside the nylon‐6 electrospun nanofibers; so polymeric nanofibers embedding ZnO nanoflakes were obtained. Typically, zinc acetate/nylon‐6 electrospun nanofibers were treated hydrothermally at 150°C for 1 h. Besides the utilized characterization techniques, PL study affirmed formation of ZnO. The produced nanofibers showed a good antibacterial activity which improves with increasing ZnO content. Overall, the present study opens new avenue to synthesize hybrid nanofibers by a facile procedure. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
The effect of pH on the hydrolytic degradation of poly(ε‐caprolactone)‐block‐poly(ethylene glycol) copolymers
Authors: Loh Xian Jun 
Published: May 2012

AbstractThe in‐vitro hydrolytic behavior of diblock copolymer films consisting of poly(ε‐caprolactone) (PCL) and poly(ethylene glycol) (PEG) was studied at pH 7.4 and pH 9.5 at 37°C. The degradation of these films was characterized at various time intervals by mass loss measurements, GPC, 1H‐NMR, DSC, FTIR, XRD, and SEM. A faster rate of degradation took place at pH 9.5 than at pH 7.4. Analysis of the molecular weight profile during the course of degradation revealed that random chain scission of the ester bonds in PCL predominates at the initial induction phase of polymer degradation. There was also an insignificant mass loss of the films observed. Mass spectroscopy was used to determine the nature of the water soluble products of degradation. At pH 7.4, a variety of oligomers with different numbers of repeating units were present whereas the harsher degradation conditions at pH 9.5 resulted in the formation of dimers. From the results, it can be proposed that a more complete understanding of the degradation behavior of the PCL‐b‐PEG copolymer can be monitored using a combination of physiological and accelerated hydrolytic degradation conditions. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Synthesis of random or tapered solution styrene–butadiene copolymers in the presence of sodium dodecylbenzene sulfonate as a polar modifier
Authors: Halasa Adel F. , Jasiunas Chad , Hsu Bill , Henning Steve , Seo Kwang Su 
Published: May 2012

AbstractRandom or tapered solution styrene–butadiene copolymer (SSBR) is very difficult to prepare in an isothermal batch process without the use of polar modifiers because of the diverse reactivity ratios of the styrene and the butadiene in hydrocarbon solvents. In the presence of polar modifiers, the random SSBR can be synthesized by anionic living polymerization with the variety of microstructures, which results in the change of glass transition temperature (Tg). This article will discuss the use of sodium dodecylbenzene sulfonate as a polar modifier in isothermal batch process that controls the microstructure of the SSBR resulting in a random as well as tapered SSBR with low Tg (−67°C to −80°C). The Tg of SSBR was controlled by the styrene content rather than the microstructure of polybutadiene. Physical properties of SSBR compounding were discussed for tire tread applications. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Novel polymer electrolyte membranes based on semi‐interpenetrating blends of poly(vinyl alcohol) and sulfonated poly(ether ether ketone)
Authors: Kanakasabai P. , Deshpande Abhijit P. , Varughese Susy 
Published: May 2012

AbstractIn this work, the properties of novel ionic polymer blends of crosslinked and sulfonated poly(vinyl alcohol) (PVA) and sulfonated poly(ether ether ketone) (SPEEK) are investigated. Crosslinking and sulfonation of PVA were carried out using sulfosuccinic acid (SSA) in the presence of dispersed SPEEK to obtain semi‐interpenetrating network blends. PVA–SSA/SPEEK blend membranes of different compositions were studied for their ion‐exchange capacity, proton conductivity, water uptake, and thermal and mechanical properties. The hydrated blend membranes show good proton conductivities in the range of 10−3 to 10−2 S/cm. When compared with pure component membranes, the PVA–SSA/SPEEK blend membranes also exhibit improvement in tensile strength, tensile modulus, and delay in the onset of thermal and chemical degradation. Semi‐interpenetrating nature of the blends is established from morphology and dynamic mechanical analysis. Morphology of the membranes was studied using scanning electron microscopy after selective chemical treatment. The dynamic mechanical properties of the membranes are examined to understand the miscibility characteristics of the blends. The relative proportions of PVA and SPEEK and the degree of crosslinking of PVA–SSA are important factors in determining the optimum properties for the blend. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
New insights in dispersion mechanisms of carbon black in a polymer matrix under shear by rheo‐optics
Authors: Collin Véronique , Boudimbou Innocent , Peuvrel‐Disdier Edith 
Published: May 2012

AbstractThe dispersion behavior of different carbon black grades was investigated in a common elastomer matrix under shear using a transparent plate‐and‐plate counter‐rotating shear cell coupled with an optical microscope. The objective was to investigate the effect of carbon black intrinsic characteristics (specific area and structure) on dispersion mechanisms. Shear conditions were selected to study independently erosion and rupture mechanisms. The independent study of rupture and erosion mechanisms brings new findings on the respective effect of the filler intrinsic characteristics on each mechanism: (a) Rupture is a sudden mechanism occurring above a critical shear stress, which depends on the pellet size. The rupture criterion appears not to depend on the carbon black specific area or the structure. (b) Erosion proceeds via the detachment of a fixed eroded volume per strain unit and is driven by the applied shear stress and strain. Erosion is a local mechanism. The erosion rate depends on the carbon black characteristics. Faster erosion was measured for a carbon black with a higher structure at equivalent specific area or with a lower specific area at equivalent structure. This in situ characterization of dispersion mechanisms highlights that the effect of the carbon black characteristics on the two main dispersion mechanisms (rupture and erosion) is completely different. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Poly(ε‐caprolactone) composites containing gentamicin‐loaded β‐tricalcium phosphate/gelatin microspheres as bone tissue supports
Authors: Sezer Umran Aydemir , Aksoy Eda Ayse , Hasirci Vasif , Hasirci Nesrin 
Published: May 2012

AbstractIn this work, novel antibacterial composites were prepared by using poly(ε‐caprolactone) (PCL) as the main matrix material, and gentamicin‐loaded microspheres composed of β‐tricalcium phosphate (β‐TCP) and gelatin. The purpose is to use this biodegradable material as a support for bone tissue. This composite system is expected to enhance bone regeneration by the presence of β‐TCP and prevent a possible infection that might occur around the defected bone region by the release of gentamicin. The effects of the ratio of the β‐TCP/gelatin microspheres on the morphological, mechanical, and degradation properties of composite films as well as in vitro antibiotic release and antibacterial activities against Escherichia coli and Staphylococcus aureus were investigated. The results showed that the composites of PCL and β‐TCP/gelatin microspheres had antibacterial activities for both bacteria. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013
Selective binding of an imprinted polymer resulted from controlling cobalt coordination to nitric oxide
Authors: Zhao Lili , Chen Changbao , Zhou Jie 
Published: May 2012

AbstractIn this article, the binding characteristics of the imprinted polymer P‐1[CoII(salen)] (salen: bis(2‐hydroxybenzaldehyde)ethylenediimine) to nitric oxide (NO) have been reported. P‐1[CoII(salen)] was characterized by Fourier transform infrared analysis, thermogravimetric analysis, and differential scanning calorimetry. Batch‐mode adsorption studies were carried out to investigate binding thermodynamics, kinetics, and selective recognition behavior of P‐1[CoII(salen)] to NO. The kinetics study indicates that binding of the polymer to NO fits the first‐order reaction kinetics with the rate constant k1 of 0.087 min−1. Langmuir and Freundlich equations were used to explain the equilibrium character of P‐1[CoII(salen)] binding to NO. The r2 and χ2 values suggest that total amount of NO bound by P‐1[CoII(salen)] can be best fitted by the Langmuir equation. The binding capacity (Bmax) of P‐1[CoII(salen)] was calculated to be 76.28 μmol/g, very close to the experimental value, 75 μmol/g. The thermodynamics and selectivity experiments showed that the affinity of P‐1[CoII(salen)] to NO was much higher than carbon dioxide (CO2) and oxygen (O2), suggesting that P‐1[CoII(salen)] is a promising functional material for NO storage and NO sensing. © 2012 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2013