bluuebunny/crossref_metadata_2025 huggingface dataset:
Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients
Authors: Lin Angela E. , Traum Avram Z. , Sahai Inderneel , Keppler‐Noreuil Kim , Kukolich Mary K. , Adam Margaret P. , Westra Sjirk J. , Arts Heleen H.
Published: October 2013

Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. Dramatic advances with next‐generation sequencing have expanded its phenotypic variability and molecular heterogeneity. We review 39 patients including two new patients, one with compound heterozygous novel mutations in WDR35 and a previously unreported multisutural craniosynostosis that may be a part of Sensenbrenner syndrome. In 14 of 25 (56.0%) patients pathogenic mutations have been identified in 4 different genes that regulate (intraflagellar) cilia transport. We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy‐Jeune syndrome (ATD‐JS) and other ciliopathies. Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the patients) occur in almost all patients with Sensenbrenner syndrome. Metaphyseal dysplasia with narrow thorax, proximal limb shortness, and short fingers are typical of Sensenbrenner syndrome and ATD‐JS. Respiratory complications have been reported in both syndromes, usually less severe with Sensenbrenner syndrome. Proposed diagnostic criteria for Sensenbrenner syndrome include the distinctive craniofacial appearance, ubiquitous brachydactyly and ectodermal anomalies, and sagittal craniosynostosis. Mild heart defects have been noted, but there have been no atrioventricular canal or heterotaxy defects that are common in Ellis‐Van Creveld syndrome. We anticipate that the steady identification of molecularly defined patients may allow correlation of phenotype and genotype. Additional natural history data will improve genetic counseling and current guidelines. © 2013 Wiley Periodicals, Inc.
PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow‐up protocol
Authors: Piccione Maria , Fragapane Tiziana , Antona Vincenzo , Giachino Daniela , Cupido Francesco , Corsello Giovanni
Published: October 2013

PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ‐line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan–Riley–Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, endometrial, and sometimes renal cancers. Thus, cancer surveillance is the cornerstone of PHTS patient management. Although a consensus cancer surveillance protocol has not been formally instituted, all PTEN mutation carriers should adopt the cancer surveillance strategies proposed for patients with Cowden syndrome. In addition, because gastrointestinal and vascular complications can be more severe in Bannayan–Riley–Ruvalcaba syndrome than in Cowden syndrome, patients with Bannayan–Riley–Ruvalcaba syndrome should be monitored from this point of view too. In this study, we report on two cases with Bannayan–Riley–Ruvalcaba phenotype that showed two different PTEN mutations. We also propose practice recommendations for management of PHTS patients. © 2013 Wiley Periodicals, Inc.
Association study of 83 candidate genes for bipolar disorder in chromosome 6q selected using an evidence‐based prioritization algorithm
Authors: Bigdeli T. Bernard , Maher Brion S. , Zhao Zhongming , Sun Jingchun , Medeiros Helena , Akula Nirmala , McMahon Francis J. , Carvalho Celia , Ferreira Susana R. , Azevedo Maria H. , Knowles James A. , Pato Michele T. , Pato Carlos N. , Fanous Ayman H.
Published: October 2013

Background

Prior genome‐scans of bipolar disorder have revealed chromosome 6q22 as a promising candidate region. However, linkage disequilibrium (LD) mapping studies have yet to identify replicated susceptibility loci.

Methods

We analyzed 1,422 LD‐tagging single nucleotide polymorphisms (SNPs) in 83 genes to test single‐marker and locus‐wide evidence of association with bipolar disorder in the NIMH Genetics Initiative bipolar pedigrees and the Portuguese Island Collection (PIC) (N = 1,093 in 528 informative pairs). Both studies previously demonstrated significant evidence of linkage to 6q. SNPs were genotyped using an Illumina iSelect genotyping array which employs the Infinium assay. Evidence of single‐marker association was assessed using the generalized disequilibrium test (GDT). Empirical estimates of gene‐wide significance were obtained by permutation (via 100,000 gene‐dropping simulations) of Fisher's combined test of P‐values for each locus.

Results

No single variant yielded significant experiment‐wide evidence of association, for either the combined sample or in each subsample. Our gene‐dropping simulations identified nominally significant gene‐wide associations with multiple loci, of which NT5DC1 in the NIMH subsample and CCNC in the PIC were the strongest candidates. However, no one gene consistently exceeded empirical significance criteria in both independent samples or survived Bonferroni correction for the number of genes tested.

Conclusions

Using a gene‐based approach to family‐based association, we identified gene‐wide associations with several genes, though no single locus was significantly associated with bipolar disorder in both cohorts. This suggests that chromosome 6q may harbor multiple susceptibility loci or that complex patterns of LD in this region may confound approaches based on common SNPs. Published 2013. This article is a U.S. Government work and is in the public domain in the USA
Effects of neuregulin‐1 genetic variation and depression symptom severity on longitudinal patterns of psychotic symptoms in primary care attendees
Authors: Bousman C.A. , Potiriadis M. , Everall I.P. , Gunn J.M.
Published: October 2013

A better understanding of the factors associated with psychotic symptoms could aid early identification and treatment of psychotic disorders. Previous studies have typically utilized cross‐sectional study designs and have focused on individuals with psychotic disorders. Thus, examination of promising correlates of psychotic symptoms using longitudinal designs among more broadly defined populations is warranted. Two such correlates are neuregulin‐1 (NRG1) genotypic variation and depression symptom severity. Both NRG1 and depression symptom severity have cross‐sectional evidence for an association with psychosis but their affect on longitudinal patterns of psychotic symptoms and their potential interaction effects are less clear. Using repeated measures analysis of variance and covariance we modeled the main and interaction effects of NRG1 genotypic variation and depressive symptom severity on longitudinal psychotic symptom patterns in 301 primary care attendees assessed annually over 4 years. One‐fifth (19.9%) of the participants reported one or more psychotic symptoms over the 4‐year assessment period. We observed a curvilinear (i.e., cubic) association between depression symptom severity at baseline and longitudinal patterns of psychotic symptoms but did not observe a main effect for NRG1 genotypic variation on psychotic symptom patterns. However, NRG1 rs6994992 genotype moderated the curvilinear association between depression symptom severity and psychotic symptom patterns. Specifically, depression symptom severity had less of an effect on longitudinal psychotic symptoms among carriers of the rs6994992 TT genotype compared to CC and CT carriers. Our findings suggest a curvilinear association between depression symptom severity and longitudinal patterns of psychotic symptoms that is moderated by NRG1 genotype. © 2013 Wiley Periodicals, Inc.
How might ZNF804A variants influence risk for schizophrenia and bipolar disorder? A literature review, synthesis, and bioinformatic analysis
Authors: Hess Jonathan L. , Glatt Stephen J.
Published: October 2013

The gene that encodes zinc finger protein 804A (ZNF804A) became a candidate risk gene for schizophrenia (SZ) after surpassing genome‐wide significance thresholds in replicated genome‐wide association scans and meta‐analyses. Much remains unknown about this reported gene expression regulator; however, preliminary work has yielded insights into functional and biological effects of ZNF804A by targeting its regulatory activities in vitro and by characterizing allele‐specific interactions with its risk‐conferring single nucleotide polymorphisms (SNPs). There is now strong epidemiologic evidence for a role of ZNF804A polymorphisms in both SZ and bipolar disorder (BD); however, functional links between implicated variants and susceptible biological states have not been solidified. Here we briefly review the genetic evidence implicating ZNF804A polymorphisms as genetic risk factors for both SZ and BD, and discuss the potential functional consequences of these variants on the regulation of ZNF804A and its downstream targets. Empirical work and predictive bioinformatic analyses of the alternate alleles of the two most strongly implicated ZNF804A polymorphisms suggest they might alter the affinity of the gene sequence for DNA‐ and/or RNA‐binding proteins, which might in turn alter expression levels of the gene or particular ZNF804A isoforms. Future work should focus on clarifying the critical periods and cofactors regulating these genetic influences on ZNF804A expression, as well as the downstream biological consequences of an imbalance in the expression of ZNF804A and its various mRNA isoforms. © 2013 Wiley Periodicals, Inc.
Facial dysostoses: Etiology, pathogenesis and management
Authors: Trainor Paul A. , Andrews Brian T.
Published: October 2013

Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one‐third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis. © 2013 Wiley Periodicals, Inc.
The ontology of craniofacial development and malformation for translational craniofacial research
Authors: Brinkley J.F. , Borromeo C. , Clarkson M. , Cox T.C. , Cunningham M.J. , Detwiler L.T. , Heike C.L. , Hochheiser H. , Mejino J.L.V. , Travillian R.S. , Shapiro L.G.
Published: October 2013

We introduce the Ontology of Craniofacial Development and Malformation (OCDM) as a mechanism for representing knowledge about craniofacial development and malformation, and for using that knowledge to facilitate integrating craniofacial data obtained via multiple techniques from multiple labs and at multiple levels of granularity. The OCDM is a project of the NIDCR‐sponsored FaceBase Consortium, whose goal is to promote and enable research into the genetic and epigenetic causes of specific craniofacial abnormalities through the provision of publicly accessible, integrated craniofacial data. However, the OCDM should be usable for integrating any web‐accessible craniofacial data, not just those data available through FaceBase. The OCDM is based on the Foundational Model of Anatomy (FMA), our comprehensive ontology of canonical human adult anatomy, and includes modules to represent adult and developmental craniofacial anatomy in both human and mouse, mappings between homologous structures in human and mouse, and associated malformations. We describe these modules, as well as prototype uses of the OCDM for integrating craniofacial data. By using the terms from the OCDM to annotate data, and by combining queries over the ontology with those over annotated data, it becomes possible to create “intelligent” queries that can, for example, find gene expression data obtained from mouse structures that are precursors to homologous human structures involved in malformations such as cleft lip. We suggest that the OCDM can be useful not only for integrating craniofacial data, but also for expressing new knowledge gained from analyzing the integrated data © 2013 Wiley Periodicals, Inc.
Modeling anterior development in mice: Diet as modulator of risk for neural tube defects
Authors: Kappen Claudia
Published: October 2013

Head morphogenesis is a complex process that is controlled by multiple signaling centers. The most common defects of cranial development are craniofacial defects, such as cleft lip and cleft palate, and neural tube defects, such as anencephaly and encephalocoele in humans. More than 400 genes that contribute to proper neural tube closure have been identified in experimental animals, but only very few causative gene mutations have been identified in humans, supporting the notion that environmental influences are critical. The intrauterine environment is influenced by maternal nutrition, and hence, maternal diet can modulate the risk for cranial and neural tube defects. This article reviews recent progress toward a better understanding of nutrients during pregnancy, with particular focus on mouse models for defective neural tube closure. At least four major patterns of nutrient responses are apparent, suggesting that multiple pathways are involved in the response, and likely in the underlying pathogenesis of the defects. Folic acid has been the most widely studied nutrient, and the diverse responses of the mouse models to folic acid supplementation indicate that folic acid is not universally beneficial, but that the effect is dependent on genetic configuration. If this is the case for other nutrients as well, efforts to prevent neural tube defects with nutritional supplementation may need to become more specifically targeted than previously appreciated. Mouse models are indispensable for a better understanding of nutrient–gene interactions in normal pregnancies, as well as in those affected by metabolic diseases, such as diabetes and obesity. © 2013 Wiley Periodicals, Inc.
Genetics of cleft lip and cleft palate
Authors: Leslie Elizabeth J. , Marazita Mary L.
Published: October 2013

Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome‐wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. © 2013 Wiley Periodicals, Inc.
Chiral‐Amine‐Catalyzed Asymmetric Bromocyclization of Tryptamine Derivatives
Authors: Cai Quan , Yin Qin , You Shu‐Li
Published: October 2013

Chiral hexahydropyrro[2,3]indole (HPI) units exist widely in natural and unnatural products with significant biological activities. The enantioselective synthesis of brominated hexahydropyrrolo[2,3‐b]indole (HPI) subunits by asymmetric bromocyclization of tryptamine derivatives catalyzed by a chiral amine has been realized. In the presence of hydroquinine 1,4‐phthalazinediyl diether ((DHQ)2PHAL, 20 mol %) and L‐(‐)‐camphorsulfonic acid (20 mol %), enantioenriched brominated HPI derivatives were obtained from readily available substituted tryptamines in up to 99% yield and 73% ee.
Monitoring ovarian cycle activity via progestagens in urine and feces of female mountain gorillas: A comparison of EIA and LC–MS measurements
Authors: Habumuremyi Sosthene , Robbins Martha M. , Fawcett Katie A. , Deschner Tobias
Published: October 2013

Understanding the reproductive biology of endangered mountain gorillas (Gorilla beringei beringei) is essential for optimizing conservation strategies, determining any demographic impact of socioecological changes, and providing information for comparative studies of primates. Non‐invasive techniques have been used to assess the reproductive function of many primates and the importance of validating the measurements of hormones metabolites is widely recognized because they may vary even within closely related species. To determine if it is possible to non‐invasively monitor ovarian activity in wild mountain gorillas, we used enzyme immunoassays (EIA) to quantify both urinary and fecal excretion of immunoreactive pregnanediol‐3‐glucuronide (iPdG), defined as all metabolites detected by a pregnanediol‐3‐glucuronide immunoassay (PdG EIA). Simultaneously, we performed the liquid chromatography mass spectrometry (LC–MS) to quantify the excretion of pregnanediol in urine and feces. Samples were analyzed over nine cycles of five females from the habituated gorillas monitored by Karisoke Research Center, Rwanda. As an additional indicator for ovulation timing, estrone conjugates (E1C) were measured in a subset of urine samples. The concentrations of iPdG and pregnanediol measured in the same samples were significantly correlated. Urinary concentrations of iPdG and pregnanediol fluctuated over the menstrual cycle but did not reveal any cyclic pattern, whereas a typical preovulatory urinary E1C surge and postovulatory increases of fecal iPdG and pregnanediol were detected. The luteal peaks of iPdG and pregnanediol levels in feces were on average 2.8 and 7.6 times higher, respectively, than averaged levels in the corresponding follicular phase. The relative number of days with observed matings was higher within the presumed fertile window than in the preceding period. Overall, the results indicate that fecal analysis of iPdG and pregnanediol is suitable for detecting ovulation in female mountain gorillas. Urinary measurements using both EIA and LC–MS appeared to be uninformative for monitoring ovarian activity in this primate. Am. J. Primatol. 76:180–191, 2014. © 2013 Wiley Periodicals, Inc.
Genetic affinities of Ukrainians from the maternal perspective
Authors: Pshenichnov Andrey , Balanovsky Oleg , Utevska Olga , Metspalu Ene , Zaporozhchenko Valery , Agdzhoyan Anastasia , Churnosov Mikhail , Atramentova Lyubov , Balanovska Elena
Published: October 2013

The area of what is now the Ukraine has been the arena of large‐scale demographic processes that may have left their traces in the contemporary gene pool of Ukrainians. In this study, we present new mitochondrial DNA data for 607 Ukrainians (hypervariable segment I sequences and coding region polymorphisms). To study the maternal affinities of Ukrainians at the level of separate mitochondrial haplotypes, we apply an original technique, the haplotype co‐occurrence analysis. About 20% of the Ukrainian maternal gene pool is represented by lineages highly specific to Ukrainians, but is scarcely found in other populations. About 9% of Ukrainian mtDNA lineages are typical for peoples of the Volga region. We also identified minor gene pool strata (1.6–3.3%), each of which is common in Lithuanians, Estonians, Saami, Nenets, Cornish, and the populations of the North Caucasus. Am J Phys Anthropol 152:543–550, 2013. © 2013 Wiley Periodicals, Inc.
An investigation of ecological correlates with hand and foot morphology in callitrichid primates
Authors: Smith Joanna M. , Smith Andrew C.
Published: October 2013

Studies of primate taxonomy and phylogeny often depend on comparisons of limb dimensions, yet there is little information on how morphology correlates and contributes to foraging strategies and ecology. Callitrichid primates are ideal for comparative studies as they exhibit a range of body size, limb proportions and diet. Many callitrichid species exhibit a high degree of exudativory, and to efficiently exploit these resources, they are assumed to have evolved morphologies that reflect a level of dependence on these resources. We tested assumptions by considering measurements of limb proportion and frictional features of the volar surfaces in preserved specimens of 25 species with relation to published life history and ecological data. The degree of exudativory and utilization of vertical substrates during foraging were found to correlate both with size and with size‐corrected foot and hand dimensions. Smaller species, which engage in greater degrees of exudativory, had proportionally longer hands and feet and more curved claw‐like tegulae (nails) on their digits to facilitate climbing on vertical substrates. The density of patterned ridges (dermatoglyphs) on the volar surfaces of the hands and feet is higher in more exudativorous genera, suggesting a role in climbing on vertical tree trunks during foraging. Dermatoglyph comparisons suggest that ridges on the soles and palms may facilitate food procurement by enhancing frictional grip during exudate feeding. Volar pad features corroborate taxonomic relationships described from dental morphology. Am J Phys Anthropol 152:447–458, 2013. © 2013 Wiley Periodicals, Inc.
Epistaxis: the factors involved in determining medicolegal liability
Authors: Khan Mohemmed N. , Blake Danielle M. , Vazquez Alejandro , Setzen Michael , Baredes Soly , Eloy Jean Anderson
Published: October 2013

Background

The purpose of this study was to examine litigation involving epistaxis and analyze factors that determine liability.

Methods

Jury verdicts and settlements regarding cases involving epistaxis were gathered utilizing the Westlaw database. Factors involved in litigation gathered included demographics, defendant specialty, procedure, alleged cause of malpractice, outcome, monetary award, and other variables.

Results

A total of 26 cases were analyzed. The majority of cases (57.7%) were decided in favor of the plaintiff or settled out of court. Total awards amounted to $24,501,252. Average awards for cases decided in favor of the plaintiff were $2,260,893 and ranged from $499,845 to $9,022,643. Settlements averaged $1,084,375 and ranged from $300,000 to $3,800,000. Common causes of malpractice encountered included delay in diagnosis, complications from medical procedures, and failure to recognize complications in a timely manner.

Conclusion

Contrary to previous reports analyzing malpractice for varying medical procedures and complications, litigation in epistaxis is more commonly resolved in favor of the plaintiff or resolved through out‐of‐court settlements. Substantial financial awards and therapeutic complications from blindness to death make epistaxis a candidate for litigation. Of importance from a medicolegal stand is the fact that 30.8% (8) of the patients involved in epistaxis litigation died, either from complications of therapy or from experiencing epistaxis as a complication of another procedure/pathology. Using necessary diagnostic imaging, ensuring proper management techniques, and recognizing complications in a timely manner can serve to limit legal liability and enhance patient safety.
Endoscopic orbital floor decompression with preservation of the inferomedial strut
Authors: Bleier Benjamin S. , Lefebvre Daniel R. , Freitag Suzanne K.
Published: October 2013

Background

Medial and inferior orbital decompression is most commonly performed in the setting of dysthyroid orbitopathy. Diplopia represents the most common complication and may be minimized through the preservation of a bony inferomedial strut (IMS). Historically, this has required a transconjunctival approach due to the technical demands of performing an isolated orbital floor decompression using endoscopic instrumentation. Here we describe a novel technique of a purely endoscopic orbital floor decompression with reliable preservation of the IMS.

Methods

Description of a novel surgical technique for endoscopic orbital floor decompression with IMS preservation using frontal sinus instrumentation visualized by a 70‐degree endoscope.

Results

We have successfully used this technique in 12 orbits with 100% preservation of the bony inferomedial strut and no complications. The extent of decompression and width of the residual strut may be fine tuned as needed to optimize results.

Conclusion

Orbital floor decompression with IMS preservation may be reliably performed using purely endoscopic techniques. Successful completion of this procedure requires the adaptation of standard frontal sinus instrumentation to the maxillary sinus roof and thus may be readily mastered by any endoscopic surgeon comfortable with frontal sinus techniques.
The role of secondhand smoke in sinusitis: a systematic review
Authors: Hur Kevin , Liang Jonathan , Lin Sandra Y.
Published: October 2013

Background

The objective of this study was to systematically review existing literature on the association between sinusitis and secondhand smoke (SHS) exposure.

Methods

We performed a literature search encompassing the last 25 years in PubMed, EMBASE, and Cochrane CENTRAL. Inclusion criteria included English language papers containing original human data with at least 7 subjects. Data was systematically collected on study design, patient demographics, clinical characteristics/outcomes, and level‐of‐evidence (Oxford Center for Evidence‐Based Medicine). Quality assessment was performed using the Newcastle‐Ottawa scale. Two investigators independently reviewed all manuscripts.

Results

The initial search yielded 116 abstracts, of which 19 articles were included. Thirteen (68.4%) of the 19 articles showed a statistically significant association between sinusitis and SHS. Seven (36.8%) studies specifically evaluated chronic rhinosinusitis (CRS) with 5 (71.4%) CRS studies demonstrating a significant association between CRS and SHS. Seventeen articles were case‐control studies (Level 3b). For characterizing sinusitis, 6 (31.6%) studies included computed tomography (CT) or endoscopy in the diagnostic criteria, with 5 of these studies following rhinosinusitis taskforce guidelines. For determining presence of SHS, all studies used questionnaires and 2 (10.5%) studies also reported serum or urine cotinine levels.

Conclusion

A majority of the studies (68.4%) included in this systematic review showed a significant association between sinusitis and SHS. Furthermore, 5 (83.3%) of the 6 studies with objective diagnostic criteria (CT, endoscopy) found a significant association between sinusitis and SHS. Further higher‐quality studies with objective diagnosis of sinusitis and quantification of SHS exposure should be performed in the future to better evaluate the relationship between sinusitis and SHS.
Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy
Authors: Jansen Laura A. , Hevner Robert F. , Roden William H. , Hahn Si Houn , Jung Sunhee , Gospe Sidney M.
Published: October 2013

Objective

A high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by mutations inALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown. In this study, we analyzed tissue from a child with PDE as well as control human and murine brain to determine the normal distribution of antiquitin, its distribution in PDE, and associated brain malformations.

Methods

Formalin‐fixed human brain sections were subjected to histopathology and fluorescence immunohistochemistry studies. Frozen brain tissue was utilized for measurement of PDE‐associated metabolites and Western blot analysis. Comparative studies of antiquitin distribution were performed in developing mouse brain sections.

Results

Histologic analysis of PDE cortex revealed areas of abnormal radial neuronal organization consistent with type Ia focal cortical dysplasia. Heterotopic neurons were identified in subcortical white matter, as was cortical astrogliosis, hippocampal sclerosis, and status marmoratus of the basal ganglia. Highly elevated levels of lysine metabolites were present in postmortem PDE cortex. In control human and developing mouse brain, antiquitin immunofluorescence was identified in radial glia, mature astrocytes, ependyma, and choroid plexus epithelium, but not in neurons. In PDE cortex, antiquitin immunofluorescence was greatly attenuated with evidence of perinuclear accumulation in astrocytes.

Interpretation

Antiquitin is expressed within glial cells in the brain, and its dysfunction in PDE is associated with neuronal migration abnormalities and other structural brain defects. These malformations persist despite postnatal pyridoxine supplementation and likely contribute to neurodevelopmental impairments. ANN NEUROL 2014;75:22–32
Mechanical and thermal properties of dimer acid based nylon 636/Nylon 66 copolymers
Authors: Jia Feng , Mao Jin Long , Ma Yan , Yao Cheng
Published: October 2013

Dimer acid (DA)‐based nylon 636/nylon 66 copolymers were synthesized by in situ polymerization. The effects of incorporating nylon 66 on the mechanical and thermal properties were characterized by means of intrinsic viscosity determination, attenuated total reflection (ATR)–Fourier transform infrared (FTIR) spectroscopy, X‐ray diffraction (XRD), differential scanning calorimetry, thermogravimetric analysis, and mechanical testing. The results show that the intrinsic viscosity of the copolymers ranged from 1.0 to 2.1 dL/g, depending on the content of nylon 66. The incorporation of nylon 66 into DA‐based nylon 636 had no significant effect on the values of the glass‐transition temperature, melting temperature, temperature at 50% weight loss, or temperature at the maximum rate of decomposition, but the crystallization temperature, crystallinity degree, and extrapolated onset temperature increased. ATR–FTIR spectroscopy and XRD demonstrated that with increasing nylon 66 mass, the content of α‐ and β‐crystal forms would increase accordingly. The mechanical test data revealed that with increasing nylon 66 concentration, the tensile strength of the copolymers increased, and the flexural strength and flexural modulus first increased and then decreased. However, the notched Izod impact strength decreased. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2014, 131, 39845.
Recent advances on crosslinked dendritic networks
Authors: Olofsson Kristina , Andrén Oliver C. J. , Malkoch Michael
Published: October 2013

The branched architectures of dendritic polymers display a large number of end groups, and dendrimers have been extensively evaluated as scaffolds in a large array of research fields, including biomedicine and nanotechnology. From the number of potential applications that require advanced crosslinked films, dendritic macromolecules are attractive as scaffolds that deliver on promising crosslinked three‐dimensional (3D) networks. This review briefly covers a description of the family of functional dendritic polymers, ranging from dendrimers and dendrons to hyperbranched polymers and dendritic linear hybrids. The review also contains a detailed report on proposed chemistries for the exploitation of dendritic materials as scaffolds in the field of advanced networks. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39876.
Morphology, dynamic rheology, and cohesive properties of epoxy‐modified polyurethane–acrylate microemulsions prepared by in situ surfactant‐free polymerization
Authors: Fei Guiqiang , Zhu Ke , Wang Haihua , Shen Yiding , Zou Jing , Lan Jing
Published: October 2013

A series of organic, solvent‐free, epoxy‐modified polyurethane–acryalte (EPUA) adhesives were prepared through in situ surfactant‐free polymerization. Stable EPUA microemulsions with average particle diameters of less than 100 nm and a unimodal distribution were obtained through control of the epoxy content. Transitions from irregular shapes with a heterogeneous size distribution to a regular spherical particle morphology with an apparent core–shell morphology were obtained for EPUA with an increasing epoxy content to 8 wt %. With epoxy addition, EPUA displayed pseudoplastic behavior instead of Newtonian behavior, and increases in the viscosity and pseudoplastic behavior were detected. In addition, the EPUA emulsion transferred from a viscous liquid to a solidlike liquid. The addition of epoxy was beneficial for phase mixing, interaction, and entanglements between polyurethane and polyacrylate, and the interactions between the EPUA colloidal particles were also enhanced. The thermal stability, mechanical properties, and water and solvent resistance were thereby improved, as was the cohesive properties. However, the corresponding properties were weakened with excessive epoxy, and this was ascribed to the greatly increased particle size, viscosity, and phase separation. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39886.
Thermal and dielectric behavior of flexible polycarbonate/lead zirconate titanate composite system
Authors: Sain P. K. , Goyal R. K. , Bhargava A. K. , Prasad Y.V.S.S.
Published: October 2013

Polycarbonate (PC)/Lead Zirconate Titanate (PZT) composites were prepared using solution mixing method followed by hot pressing. The volume fraction of PZT particles was varied from 0 to 27.5%. SEM showed good dispersion of PZT in the PC matrix. XRD confirmed the perovskite structure of PZT and amorphous structure of polycarbonate. The dielectric constant of the composites measured at 1 kHz, increased ∼3.5‐fold compared with pure PC. The modified Lichtenecker equation agreed well with the experimental data. There was no dispersion in the dielectric constant of the composites for the frequency range of 1 kHz to 10 MHz. However, at frequencies higher than 10 MHz significant drop in dielectric constant was observed. The dissipation factor of the composites was found below 0.02. However, above 1 MHz, an abrupt increment in the dissipation factor was observed. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39913.
Effect of BaTiO3 on the microwave absorbing properties of Co‐doped Ni‐Zn ferrite nanocomposites
Authors: Mandal Avinandan , Das Chapal Kumar
Published: October 2013

Coprecipitation and hydrothermal method were utilized for the synthesis of Co‐doped Ni‐Zn ferrite and barium titanate nanoparticles. The microwave absorption properties of Co‐doped Ni‐Zn ferrite/barium titanate nanocomposites with single layer structure were studied in the frequency range of 8.2–12.4 GHz.The spectroscopic characterizations of the nanocomposites were examined using X‐ ray diffraction, scanning electron microscopy, transmission electron microscopy and dynamic light scattering measurement. Thermogravimetric analysis indicated the high thermal stabilities of the composites. The composite materials showed brilliant microwave absorbing properties in a wide range of frequency in the X‐band region with the minimum return loss of −42.53 dB at 11.81 GHz when sample thickness was 2 mm and the mechanisms of microwave absorption are happening mainly due to the dielectric loss. Compared with pure Co‐doped Ni‐Zn ferrite, Co‐doped Ni‐Zn ferrite/BaTiO3 composites exhibited enhanced absorbing properties. The microwave absorbing properties can be modulated by controlling the BaTiO3 content of the absorbers and also by changing the sample thicknesses. Therefore, these composites can be used as lightweight and highly effective microwave absorbers. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39926.
Structural development in ion‐irradiated poly(ether ether ketone) as studied by dielectric relaxation spectroscopy
Authors: Al Lafi Abdul G.
Published: October 2013

Structural alterations to amorphous poly(ether ether ketone) (PEEK) produced by ion irradiation (11.2 MeV H+ and 25.6 MeV He2+ ions) were investigated by dielectric relaxation spectroscopy. The analysis in terms of the Havriliak–Negami (HN) equation and the scaling model showed an increase in the intermolecular correlation with increasing irradiation dose. The dynamic fragility index (m) was estimated from Vogel–Fulcher–Tammann analysis. Ion irradiation not only elevated the glass‐transition temperature (Tg) but interestingly decreased m of the PEEK chains around Tg. This was due to increasing polar interaction and better packing efficiency of the irradiated samples compared with those of amorphous PEEK. The average size of the cooperative rearranging region decreased in line with decreasing m and indicated an increase in the rigid amorphous phase fraction after irradiation. The analysis of the direct‐current conductivity confirmed that there was a strong coupling between the macroscopic ion transport and concerted segmental motion. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2014, 131, 39929.
In situgelling polysaccharide‐based hydrogel for cell and drug delivery in tissue engineering
Authors: Cheng Yixing , Nada Ahmed A. , Valmikinathan Chandra M. , Lee Paul , Liang Danni , Yu Xiaojun , Kumbar Sangamesh G.
Published: October 2013

Injectable hydrogels have attracted a great deal of attention as cell carriers and bioactive agents in regenerative medicine due to their ability to fill complex three‐dimensional (3D) tissue gaps and relative ease ofin vivoadministration. Polysaccharide‐based hydrogels can provide microenvironments that favor tissue regeneration and biocompatibility due to their chemical similarities with native extracellular matrix components. This manuscript reports thein vitroapplication of an injectable chitosan‐based polysaccharide hydrogel for cell and protein delivery. Crosslinked hydrogels were produced by the reaction between the amino functionality of chitosan and the aldehyde of dextran aldehyde resulting in an imine bond (Schiff's base) formation in aqueous solutions. This approach eliminated the use of additional crosslinking agents which may pose undesired side effects regarding cytotoxicity and biocompatibility. Additionally, we demonstrate versatility of the gel in terms of its fabrication, and ability to alter mechanical properties by changing the crosslinking extent due to aldehyde content. Bovine serum albumin (BSA), used as a model protein, followed a steady release pattern from the gel. BSA release was dependent on the extent of hydrogel crosslinking. Increase in crosslinking extent resulted in improved mechanical properties and sustained release of BSA. Human fetal osteoblasts encapsulated into the hydrogel showed at least 70% viability and continued to proliferate underin vitroculture. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci.2014,131, 39934.
Perfluorosulfonated ionomers membranes: Melt‐processing and characterization for ion exchange applications
Authors: Tang Weihua , Zhang Rui , Liu Beibei , Yuan Huilin
Published: October 2013

Perflurosulfonated ionomers membranes with different ionic‐exchange capacity were successfully fabricated via melt‐extruding and casting of their –SO2F precursors. A systematical investigation of the thermal stability, crystallinity, and rheological properties of the precursors was performed to secure their optimized processing conditions. The tensile properties of acid‐form membranes are found to increase with base‐hydrolysis time, where a tensile strength of 38.2 MPa is readily obtained after 24 h's base‐hydrolysis. The content of –SO2F or –SO3H containing side‐chains plays an important role in the thermal stability, rheological, and mechanical properties of the precursor or the acid‐form membranes. The strong ionic interactions, attributed to the –SO3H groups, lead to decreased crystallinity and tensile strength for different IEC membranes. The acid‐form membranes exhibit good proton conductivity and low methanol crossover in comparison with reference Nafion membrane. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39944.
Iron chelating polypropylene films: Manipulating photoinitiated graft polymerization to tailor chelating activity
Authors: Roman Maxine J. , Tian Fang , Decker Eric A. , Goddard Julie M.
Published: October 2013

Transition metals, especially iron, enhance the oxidative degradation of lipids. Nonmigratory metal chelating active packaging can inhibit lipid oxidation and meet consumer demand for ‘cleaner' labels. Recently, the development of iron chelating films prepared by photoinitiated graft polymerization of acrylic acid on polypropylene (PP‐g‐PAA) was reported. The objective of this study was to tailor the chelating activity of PP‐g‐PAA by manipulating graft conditions. Carboxylic acids graft density and PAA graft thickness increased with graft time and acrylic acid concentration, with carboxylic acids density of up to 143 ± 32 nmol cm−2, PAA graft thickness of ∼6–18 μm, and ligand (carboxylic acid) to metal (Fe2+) binding ratio of ∼4–5. Reducing photoinitiator graft density decreased this ratio to ∼2–2.5, suggesting that graft chain density influences chelating activity. This work demonstrates the ability to tailor chelating activity of PP‐g‐PAA with potential applications in active packaging, chelation therapy, and water purification. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2014, 131, 39948.
Vitamin E acetate addition to poly(d,l)lactic acid modifies its mechanical behavior without affecting biocompatibility
Authors: Pittarella Pamela , Antonioli Diego , Rizzi Manuela , Laus Michele , Renò Filippo
Published: October 2013

Mechanical properties of poly(d,l)lactic acid films enriched with Vitamin E and Vitamin E Acetate (5–40% w/w) were investigated. The addition of both formulations resulted in increased polymer Young's modulus and tensile strength. Human foreskin fibroblasts and murine pre‐osteoblasts were used to assess the biocompatibility of polymers. Pre‐osteoblasts adhesion and proliferation were strongly decreased by Vitamin E, whereas Vitamin E Acetate did not alter cell proliferation. Collagen deposition was lower onto Vitamin E blended polymers than onto native and Vitamin E Acetate blended ones. Fibroblasts adhesion and proliferation were increased by both Vitamin E and Vitamin E Acetate addition. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2014, 131, 39970.
Enhanced performance by polyaniline/tailored carbon nanotubes composite as supercapacitor electrode material
Authors: Ye Tingting , Kuang Yafei , Xie Congjia , Huang Zhongyuan , Zhang Changjun , Shan Dan , Zhou Haihui
Published: October 2013

Polyaniline/tailored carbon nanotubes composite (PANI/TCN) synthesized via situ polymerization of aniline monomer in the presence of tailored carbon nanotubes (TCN) is reported as electrode material for supercapacitors. The morphology, structure, and thermostability of the composite were characterized by scanning electron microscope, Fourier transform infrared, and thermogravimetric analysis. The electrochemical property of the resulting material was systematically studied using cyclic voltammetry and galvanostatic charge–discharge. The results show that the short rod‐like PANI dispersed well in the TCN with three‐dimensional network structure. The as‐prepared composite shows high specific capacitance and good cycling stability. A specific capacitance of 373.5 F g−1 at a current density of 0.5 A g−1 was achieved, which is much higher than that of pure PANI (324 F g−1). Meanwhile, the composite retains 61.7% capacity after 1000 cycles at a scan rate of 50 mV s−1. The enhanced specific capacitance and capacity retention indicates the potential of composite as a promising supercapacitor electrode material. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2014, 131, 39971.
Palm oil‐based organogels and microemulsions for delivery of antimicrobial drugs
Authors: Pradhan Suryakant , Sagiri Satish S. , Singh Vinay K. , Pal Kunal , Ray Sirsendu S. , Pradhan Dillip K.
Published: October 2013

This study has been designed to develop palm oil (PO) based organogels using span 80/tween 80 mixture (OG) as a gelator system by fluid‐filled structure mechanism. The results suggested formation of organogels, emulsions, and microemulsions as the proportions of PO, OG and water were varied. The emulsions were found to be thermodynamically unstable as compared to the organogels and the microemulsions. Accelerated thermal stability test suggested that all the microemulsions and the organogels of only eight compositions were stable. The organogels showed viscoelastic property while the microemulsions showed viscous flow behavior. Both the organogels and the microemulsions were found to be highly hemocompatible and nonirritant. The antimicrobial efficiency of the ciprofloxacin HCl‐loaded formulations showed equivalent efficiency as compared to marketed formulations. The rates of drug release from the organogels were found to be relatively slower as compared to the microemulsions. The preliminary studies suggested that the developed organogel and microemulsion‐based formulations may be tried for topical delivery of antimicrobials. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2014, 131, 39979.
Preparation, characterization, and applicability of novel calix[4]arene‐based cellulose acetate membranes in gas permeation
Authors: Farrukh Sarah , Minhas Fozia T. , Hussain Arshad , Memon Shahabuddin , Bhanger M. I. , Mujahid M.
Published: October 2013

Cellulose acetate (CA) is well known glassy polymer used in the fabrication of gas‐separation membranes. In this study, 5,11,17,23‐tetrakis(N‐morpholinomethyl)‐25,26,27,28‐tetrahydroxycalix[4]arene (CL) was blended with CA to study the gas‐permeation behavior for CO2, N2, and CH4 gases. We prepared the pure CA and CA/CL blended membranes by following a diffusion‐induced phase‐separation method. Three different concentrations of CL (3, 10, and 30 wt %) were selected for membrane preparation. The CA/CL blended membranes were then characterized via Fourier transform infrared (FTIR) spectroscopy, scanning electron microscopy (SEM), atomic force microscopy (AFM), and X‐ray diffraction analysis. The homogeneous blending of CL and CA was confirmed in the CA/CL blended membranes by both SEM and AFM analysis. In addition to this, the surface roughness of the CA/CL blended membranes also increased with increasing CL concentration. FTIR analysis described the structural modification in the CA polymer after it was blended with CL too. Furthermore, CL improved the tensile strength of the CA membrane appreciably from 0.160 to 1.28 MPa, but this trend was not linear with the increase in the CL concentration. CO2, CH4, and N2 gases were used for gas‐permeation experiments at 4 bars. With the permeation experiments, we concluded that permeability of N2 was higher in comparison to those of CO2 and CH4 through the CA/CL blended membranes. © 2013 Wiley Periodicals, Inc. J. Appl. Polym. Sci., 2014, 131, 39985.