bluuebunny/crossref_metadata_2025 huggingface dataset:
2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis
Authors: Fisher Michael J. , Belzberg Allan J. , de Blank Peter , De Raedt Thomas , Elefteriou Florent , Ferner Rosalie E. , Giovannini Marco , Harris Gordon J. , Kalamarides Michel , Karajannis Matthias A. , Kim AeRang , Lázaro Conxi , Le Lu Q. , Li Wei , Listernick Robert , Martin Staci , Morrison Helen , Pasmant Eric , Ratner Nancy , Schorry Elisabeth , Ullrich Nicole J. , Viskochil David , Weiss Brian , Widemann Brigitte C. , Zhu Yuan , Bakker Annette , Serra Eduard
Published: April 2018

Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. The transformation from plexiform neurofibroma (PNF) to malignant peripheral nerve sheath tumor (MPNST) is being clarified, along with new management and treatments for benign and premalignant tumors. Promising new cellular and in vivo models for understanding the musculoskeletal abnormalities in NF1, the development of NF2 or SWN associated schwannomas, and clarifying the cells that give rise to NF1‐associated optic pathway glioma were presented. The interaction of neurofibromin and SPRED1 was described comprehensively, providing functional insight that will help in the interpretation of pathogenicity of certain missense variants identified in NF1 and Legius syndrome patients. Novel promising imaging techniques are being developed, as well as new integrative and holistic management models for patients that take into account psychological, social, and biological factors. Importantly, new therapeutic approaches for schwannomas, meningiomas, ependymomas, PNF, and MPNST are being pursued. This report highlights the major advances that were presented at the 2016 CTF NF conference.
Low‐level expression of EPG5 leads to an attenuated Vici syndrome phenotype
Authors: Waldrop Megan A. , Gumienny Felecia , Boue Daniel , de los Reyes Emily , Shell Richard , Weiss Robert B. , Flanigan Kevin M.
Published: April 2018

Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8‐year‐old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well‐controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations. Whole exome sequencing revealed compound heterozygosity for two EPG5 variants, inherited in trans. One was a known pathogenic mutation in exon 13 (c.2461C > T, p.Arg821X). The second was reported as a variant of unknown significance found within intron 16, six nucleotides before the exon 17 splice acceptor site (c.3099‐6C > G). Reverse transcription‐polymerase chain reaction of the EPG5 mRNA showed skipping of exon 17—which maintains an open reading frame—in 77% of the transcript, along with 23% expression of wild‐type mRNA suggesting that intronic mutations may affect splicing of the EPG5 gene and result in symptoms. However, the expression of 23% wild‐type mRNA may result in a significantly attenuated Vici syndrome phenotype.
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
Authors: Alessandrella Annalisa , Della Casa Roberto , Alessio Maria , Puente Prieto Jorge , Strisciuglio Pietro , Melis Daniela
Published: April 2018

Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new bone formation. Joint pain, polyarthritis, cutis verticis gyrata, seborrhea, and hyperhidrosis are frequently associated to this condition. We report a 17‐year‐old boy presented with pain and swelling of knees and ankles, and progressive thickening of skin face with seborrhea from about 4 years. At the admission he also showed digital clubbing of both hands and feet and palmoplantar hyperhidrosis. We hypothesized PDP and molecular analysis confirmed diagnosis showing a novel mutation in a homozygous state in the SLCO2A1 gene coding for prostaglandin transporter. He started therapy with hydroxychloroquine with a great improvement in joint pain and skin conditions. This is the first reported case of PDP who was successfully treated with hydroxychloroquine, with effects not only on arthralgia but also, surprisingly, on skin conditions.
Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution‐based detailed clinical observation
Authors: Shibuya Soichi , Miyake Yuichiro , Takamizawa Shigeru , Nishi Eriko , Yoshizawa Katsumi , Hatata Tomoko , Yoshizawa Kazuki , Fujita Kenya , Noguchi Masahiko , Ohata Jun , Hiroma Takehiko , Nakamura Tomohiko , Kosho Tomoki
Published: April 2018

Intensive treatment including surgery for patients with trisomy 13 (T13) remains controversial. This study aimed to evaluate the safety and efficacy of noncardiac surgical intervention for T13 patients. Medical records of patients with karyotypically confirmed T13 treated in the neonatal intensive care unit in Nagano Children's Hospital from January 2000 to October 2016 were retrospectively reviewed, and data from patients who underwent noncardiac surgery were analyzed. Of the 20 patients with T13, 15 (75%) underwent a total of 31 surgical procedures comprising 15 types, including tracheostomy in 10 patients and gastrostomy in 4. Operative time, anesthesia time, and amount of bleeding are described for the first time in a group of children with T13. All the procedures were completed safely with no anesthetic complications or surgery‐related death. The overall rate of postoperative complications was 19.3%. Patients receiving tracheostomy had stable or improved respiratory condition. Six of them were discharged home and were alive at the time of this study. These results suggest at least short‐term safety and efficacy of major noncardiac surgical procedures, and long‐term efficacy of tracheostomy on survival or respiratory stabilization for home medical care of children with T13. Noncardiac surgical intervention is a reasonable choice for patients with T13.
Comparison of perinatal factors in deletion versus uniparental disomy in Prader–Willi syndrome
Authors: Gold June‐Anne , Mahmoud Ranim , Cassidy Suzanne B. , Kimonis Virginia
Published: April 2018

Prader–Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11‐q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood‐onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11‐q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes. Of the 64 individuals with PWS, fetal movements were decreased in 82.8%, 31.7% were born prematurely, 42.1% by Cesarean section, and 35.9% required oxytocin induction. Apgar scores were low in 34.6%, 96.8% had feeding difficulty, 50% needed tube feeding, and 6.2% subsequently had gastrostomy tube placement. On comparing findings in the deletion versus the UPD groups, we did not find many significant differences. We, however, found a higher maternal age, and also later age at diagnosis in the UPD versus the deletion group. PWS subjects have higher rates of perinatal complications, especially Cesarean section rate, hypotonia, and low Apgar scores compared to the general population. We did not find many differences between the genetic subtypes, except for later age of diagnosis of the UPD 15 group suggesting a milder phenotype. We also found that the mothers in the UPD were older, supporting the hypothesis that UPD results from nondisjunction associated trisomy rescue.
Worries and needs of adults and parents of adults with neurofibromatosis type 1
Authors: Rietman Andre B. , van Helden Hanneke , Both Pauline H. , Taal Walter , Legerstee Jeroen S. , van Staa AnneLoes , Moll Henriette A. , Oostenbrink Rianne , van Eeghen Agnies M.
Published: April 2018

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow‐up of adults with NF1 often focuses on tumor growth, follow‐up of cognitive or social problems and other NF1‐related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi‐structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care. Four focus groups were conducted, including young adult patients, patients over age 30, and parents of young adult patients. In total, 30 patients and 12 parents participated. Data were transcribed verbatim and analyzed by computerized thematic analysis. Themes were organized using the World Health Organization International classification of functioning, disability, and health (ICF). Results indicated many and diverse worries and care needs both during the transitional period and in adulthood in medical, mental health, and socioeconomic domains. Worries could be categorized into 13 themes. Parents reported high stress levels and difficulties with their parental role. Participants expressed the need for more information, access to NF1 experts, daily living support, care for mental health and socioeconomic participation, and closer communication between health‐care providers. In conclusion, worries and needs of patients and parents underline the importance of multidisciplinary follow‐up and continuity of care during and after the transitional period. Additionally, parental stress requires more attention from care providers.
Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome
Authors: Kibe Masaya , Ibara Satoshi , Inagaki Hidehito , Kato Takema , Kurahashi Hiroki , Ikeda Toshiro
Published: April 2018

Bohring–Opitz syndrome (BOS) is a rare disease with a number of characteristic features, including hypertelorism, prominent metopic suture, exophthalmos, cleft palate, abnormal posture, and developmental retardation. Here, we report a BOS patient presenting with lethal persistent pulmonary hypertension of the newborn (PPHN) and inspiratory respiratory failure. The female infant was treated with nitric oxide and vasodilator, which did not improve her condition. The inspiratory respiratory failure required management with deep sedation. She died on postnatal day 60 due to progressed heart failure. Whole exome sequencing revealed de novo mutation in the ASXL1 gene, c.1934dupG, p.Gly646TrpfsTer12.
Philtrum length and intercommissural distance measurements at mixed dentition period
Authors: Mostafa Mostafa , Hassib Nehal , Sayed Inas , Neamat Amany , Ramzy Magda , El‐Badry Tarek , ElGabry Hisham , Salem Haidy , Omar Nada , Ismail Amira , Ibrahim Yousra , Shebaita Amr , Allam Ahmed , Mostafa Magdy
Published: April 2018

Anthropometric measurements of the lip and mouth are of great importance in clinical dysmorphology as well as reconstructive plastic surgery. In this study, the philtrum length (PhL) and intercommissural distance (ICmD) nomograms for Egyptian children in the mixed dentition period were established. A group of 1,338 Egyptian students in primary schools (735 boys and 603 girls) were included in the study. The students were at mixed dentition period and their ages ranged from 7 to 12 years. Anthropometric norms of PhL and ICmD were developed with significant sex difference in certain groups. A ratio between PhL and ICmD was developed. These data will help facilitate both objective and subjective evaluation of the lip and mouth for proper diagnosis of orofacial anomalies and variations as well as for ideal treatment plans.
Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability
Authors: Schirwani Schaida , Wakeling Emma , Smith Kath ,   DDD Study, Balasubramanian Meena
Published: April 2018

Pathogenic variants in Zinc Finger DHHC‐Type Containing 9 (ZDHHC9) gene have been identified as the cause of X‐linked intellectual disability (XLID) in a small number of families. There are a total of 11 reported pathogenic variants in ZDHHC9 in the literature. The majority of reported variants are familial point mutations. There is one report of XLID associated with a de novo mutation in ZDHHC9, and one family with intragenic deletion within ZDHHC9 detected by array CGH. Although initial reports of families with ZDHHC9 pathogenic variants suggested a nonsyndromic XLID, more recent reports suggest a syndromic phenotype with facial dysmorphism. Here we report four patients with pathogenic variants in ZDHHC9, a family with two siblings and their maternal uncle who presented with XLID due to intragenic deletion of ZDHHC9 detected by array CGH and an 11‐year‐old boy with a de novo pathogenic missense variant in ZDHHC9, which is the first recurrent ZDHHC9 mutation. Our patients had some distinctive facial features in common, including elongated and down‐slanting palpebral fissures and high hairline. Marfanoid habitus and seizures that have been previously reported in association with pathogenic variants in ZDHHC9 were absent in our cohort. Clinical information on patients with ZDHHC9‐associated XLID is very scarce. New reports of families with detailed clinical description will add to the existing knowledge and help understand the condition better.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies
Authors: Alby Caroline , Boutaud Lucile , Bessières Bettina , Serre Valérie , Rio Marlene , Cormier‐Daire Valerie , de Oliveira Judith , Ichkou Amale , Mouthon Linda , Gordon Christopher T. , Bonnière Maryse , Mechler Charlotte , Nitschke Patrick , Bole Christine , Lyonnet Stanislas , Bahi‐Buisson Nadia , Boddaert Nathalie , Colleaux Laurence , Roth Philippe , Ville Yves , Vekemans Michel , Encha‐Razavi Féréchté , Attié‐Bitach Tania , Thomas Sophie
Published: April 2018

Corpus callosum (CC) is the major brain commissure connecting homologous areas of cerebral hemispheres. CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture panel of syndromic CCA known causal and candidate genes to screen a cohort of 64 fetuses with CCA observed upon autopsy, and 34 children with CCA and intellectual disability. In one fetus and two patients, we identified three novel de novo mutations in ZBTB20, which was previously shown to be causal in Primrose syndrome. In addition to CCA, all cases presented with additional features of Primrose syndrome including facial dysmorphism and macrocephaly or megalencephaly. All three variations occurred within two out of the five zinc finger domains of the transcriptional repressor ZBTB20. Through homology modeling, these variants are predicted to result in local destabilization of each zinc finger domain suggesting subsequent abnormal repression of ZBTB20 target genes. Neurohistopathological analysis of the fetal case showed abnormal regionalization of the hippocampal formation as well as a reduced density of cortical upper layers where originate most callosal projections. Here, we report novel de novo ZBTB20 mutations in three independent cases with characteristic features of Primrose syndrome including constant CCA. Neurohistopathological findings in fetal case corroborate the observed key role of ZBTB20 during hippocampal and neocortical development. Finally, this study highlights the crucial role of ZBTB20 in CC development in human.
Bohring‐Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother
Authors: Bedoukian Emma , Copenheaver Deborah , Bale Sherri , Deardorff Matthew
Published: April 2018

Bohring‐Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent eyes, facial nevus simplex [flammeus], and others). Most patients meeting the clinical criteria for BOS (MIM: 605039) have a de novo nonsense or frameshift variant in ASXL1. We report a case of BOS caused by a pathogenic ASXL1 variant inherited from a germline mosaic mother. The ASXL1 mutation was detected via trio exome sequencing. The sequencing data demonstrated that the variant was inherited maternally but that the maternal variant was underrepresented in comparison to the normal allele. These results suggested maternal mosaicism for the variant. Additional testing on the mother was performed on buccal cell DNA, which was also consistent with mosaicism. The mother had been reported to be healthy and the family history is unremarkable. This is the first report of BOS caused by a mutation inherited from an unaffected, presumed germline mosaic parent. This phenomenon has been reported for other traditionally de novo dominant disorders like CHARGE syndrome and Cornelia de Lange syndrome. This case emphasizes the need for accurate low but non‐negative recurrence risk counseling for families with children with BOS and it impacts exome interpretation strategy.
A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in PNPLA8 encoding calcium‐independent phospholipase A2γ
Authors: Shukla Anju , Saneto Russell P. , Hebbar Malavika , Mirzaa Ghayda , Girisha Katta M.
Published: April 2018

Animal studies have demonstrated the critical roles of the patatin‐like protein family plays in cellular growth, lipid homeostasis, and second messenger signaling the nervous system. Of the nine known calcium‐independent phospholipase A2γ, only PNPLA2, PNLPA6, PNPLA9 and most recently a single patient with PNPLA8 are associated with mitochondrial‐related neurodegeneration. Using whole exome sequencing, we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss‐of‐function variants in PNPLA8.
Structural and molecular study of the supraspinatus muscle of modern humans (Homo sapiens) and common chimpanzees (Pan troglodytes)
Authors: Potau J. M. , Casado A. , de Diego M. , Ciurana N. , Arias‐Martorell J. , Bello‐Hellegouarch G. , Barbosa M. , de Paz F. J. , Pastor J. F. , Pérez‐Pérez A.
Published: April 2018

Objectives

To analyze the muscle architecture and the expression pattern of the myosin heavy chain (MyHC) isoforms in the supraspinatus of Pan troglodytes and Homo sapiens in order to identify differences related to their different types of locomotion.

Materials and methods

We have analyzed nine supraspinatus muscles of Pan troglodytes and ten of Homo sapiens. For each sample, we have recorded the muscle fascicle length (MFL), the pennation angle, and the physiological cross‐sectional area (PCSA). In the same samples, by real‐time quantitative polymerase chain reaction, we have assessed the percentages of expression of the MyHC‐I, MyHC‐IIa, and MyHC‐IIx isoforms.

Results

The mean MFL of the supraspinatus was longer (p = 0.001) and the PCSA was lower (p < 0.001) in Homo sapiens than in Pan troglodytes. Although the percentage of expression of MyHC‐IIa was lower in Homo sapiens than in Pan troglodytes (p = 0.035), the combination of MyHC‐IIa and MyHC‐IIx was expressed at a similar percentage in the two species.

Discussion

The longer MFL in the human supraspinatus is associated with a faster contractile velocity, which reflects the primary function of the upper limbs in Homo sapiens—the precise manipulation of objects—an adaptation to bipedal locomotion. In contrast, the larger PCSA in Pan troglodytes is related to the important role of the supraspinatus in stabilizing the glenohumeral joint during the support phase of knuckle‐walking. These functional differences of the supraspinatus in the two species are not reflected in differences in the expression of the MyHC isoforms.
The genome of an ancient Rouran individual reveals an important paternal lineage in the Donghu population
Authors: Li Jiawei , Zhang Ye , Zhao Yongbin , Chen Yongzhi , Ochir A. , Sarenbilige  , Zhu Hong , Zhou Hui
Published: April 2018

Objectives

Following the Xiongnu and Xianbei, the Rouran Khaganate (Rouran) was the third great nomadic tribe on the Mongolian Steppe. However, few human remains from this tribe are available for archaeologists and geneticists to study, as traces of the tombs of these nomadic people have rarely been found. In 2014, the IA‐M1 remains (TL1) at the Khermen Tal site from the Rouran period were found by a Sino‐Mongolian joint archaeological team in Mongolia, providing precious material for research into the genetic imprint of the Rouran.

Materials and methods

The mtDNA hypervariable sequence I (HVS‐I) and Y‐chromosome SNPs were analyzed, and capture of the paternal non‐recombining region of the Y chromosome (NRY) and whole‐genome shotgun sequencing of TL1 were performed. The materials from three sites representing the three ancient nationalities (Donghu, Xianbei, and Shiwei) were selected for comparison with the TL1 individual.

Results

The mitochondrial haplotype of the TL1 individual was D4b1a2a1. The Y‐chromosome haplotype was C2b1a1b/F3830 (ISOGG 2015), which was the same as that of the other two ancient male nomadic samples (ZHS5 and GG3) related to the Xianbei and Shiwei, which were also detected as F3889; this haplotype was reported to be downstream of F3830 by Wei et al. ().

Discussion

We conclude that F3889 downstream of F3830 is an important paternal lineage of the ancient Donghu nomads. The Donghu‐Xianbei branch is expected to have made an important paternal genetic contribution to Rouran. This component of gene flow ultimately entered the gene pool of modern Mongolic‐ and Manchu‐speaking populations.
Reproducing the internal and external anatomy of fossil bones: Two new automatic digital tools
Authors: Profico Antonio , Schlager Stefan , Valoriani Veronica , Buzi Costantino , Melchionna Marina , Veneziano Alessio , Raia Pasquale , Moggi‐Cecchi Jacopo , Manzi Giorgio
Published: April 2018

Objectives

We present two new automatic tools, developed under the R environment, to reproduce the internal and external structures of bony elements. The first method, Computer‐Aided Laser Scanner Emulator (CA‐LSE), provides the reconstruction of the external portions of a 3D mesh by simulating the action of a laser scanner. The second method, Automatic Segmentation Tool for 3D objects (AST‐3D), performs the digital reconstruction of anatomical cavities.

Materials and methods

We present the application of CA‐LSE and AST‐3D methods to different anatomical remains, highly variable in terms of shape, size and structure: a modern human skull, a malleus bone, and a Neanderthal deciduous tooth. Both methods are developed in the R environment and embedded in the packages “Arothron” and “Morpho,” where both the codes and the data are fully available.

Results

The application of CA‐LSE and AST‐3D allows the isolation and manipulation of the internal and external components of the 3D virtual representation of complex bony elements. In particular, we present the output of the four case studies: a complete modern human endocast and the right maxillary sinus, the dental pulp of the Neanderthal tooth and the inner network of blood vessels of the malleus.

Discussion

Both methods demonstrated to be much faster, cheaper, and more accurate than other conventional approaches. The tools we presented are available as add‐ons in existing software within the R platform. Because of ease of application, and unrestrained availability of the methods proposed, these tools can be widely used by paleoanthropologists, paleontologists and anatomists.
Improvement of microstructures and properties of poly(lactic acid)/poly(ε‐caprolactone) blends compatibilized with polyoxymethylene
Authors: Song Zijian , Huang Xiulong , Lu Xueli , Lv Qiaoqiang , Xu Nai , Pang Sujuan , Pan Lisha , Li Tan
Published: April 2018

Incompatibility of poly(lactic acid)/poly(ɛ‐caprolactone) (PLA/PCL) (80:20) and (70:30) blends were modified by incorporation of a small amount of polyoxymethylene (POM) (≤3 phr). Impact of POM on microstructures and tensile property of the blends were investigated. It is found that the introduction of POM into the PLA/PCL blends significantly improves their tensile property. With increasing POM loading from zero to 3 phr, elongation at break increases from 93.2% for the PLA/PCL (70:30) sample to 334.8% for the PLA/PCL/POM (70:30:3) sample. A size reduction in PCL domains and reinforcement in interfacial adhesion with increasing POM loading are confirmed by SEM observations. The compatibilization effect of POM on PLA/PCL blends can be attributed to hydrogen bonding between methylene groups of POM and carbonyl groups of PLA and PCL. In addition, nonisothermal and isothermal crystallization behaviors of PLA/PCL/POM (70:30:x) samples were investigated by using differential scanning calorimetry and wide angle X‐ray diffraction measurements. The results indicate that the crystallization dynamic of PLA matrix increases with POM loadings. It can be attributed to the fact that POM crystals have a nucleating effect on PLA. While crystallization temperature is 100 °C, crystallization half‐time can reduce from 9.4 to 2.0 min with increasing POM loading from zero to 3 phr. © 2018 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2018, 135, 46536.
Effect of graphite on the flame retardancy and thermal conductivity of P‐N flame retarding PA6
Authors: Zhang Luchong , Wang Liang , Fischer Andreas , Wu Wei , Drummer Dietmar
Published: April 2018

In this article, a novel flame‐retardant polyamide 6 (PA6) was prepared by introducing a halogen‐free flame‐retardant (OP1314). Graphite was added as a flame‐retardant synergistic agent, and the flame retardancy was enhanced, especially the melt‐dripping was forbidden and for the formula of PA6/12 wt % OP1314/5 wt % graphite, UL94 V‐0 grade was reached. Meanwhile, the graphite is also an excellent thermal conductive filler and with the addition of 5 wt % graphite in the flame‐retardant PA6 mixtures, the thermal conductivity (λ) rose to 1.2 W/mK which was nearly three times higher than the flame‐retardant PA6. Due to the good flame retardancy and improved thermal conductivity, the material could be suitable for applications in electronic and electrical devices. © 2018 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2018, 135, 46559.
Mechanical and piezo‐resistive properties of styrene–butadiene–styrene copolymer covalently modified with graphene/styrene–butadiene–styrene composites
Authors: Hong Kailiang , Wang Zhe , Lu Guoming , Wei Lai , Yuan Zhijuan , Wang Hongqing , Qiao Zhen , Wang Lun , Wang Xue , Li Zewen
Published: April 2018

As novel piezoelectric materials, carbon‐reinforced polymer composites exhibit excellent piezoelectric properties and flexibility. In this study, we used a styrene–butadiene–styrene triblock copolymer covalently grafted with graphene (SBS‐g‐RGO) to prepare SBS‐g‐RGO/styrene–butadiene–styrene (SBS) composites to enhance the organic solubility of graphene sheets and its dispersion in composites. Once exfoliated from natural graphite, graphene oxide was chemically modified with 1,6‐hexanediamine to functionalize with amino groups (GO–NH2), and this was followed by reduction with hydrazine [amine‐functionalized graphene oxide (RGO–NH2)]. SBS‐g‐RGO was finally obtained by the reaction of RGO–NH2 and maleic anhydride grafted SBS. After that, X‐ray diffraction, X‐ray photoelectron spectroscopy, Raman spectroscopy, scanning electron microscopy, transmission electron microscopy, thermogravimetric analysis, and other methods were applied to characterize SBS‐g‐RGO. The results indicate that the SBS molecules were grafted onto the graphene sheets by covalent bonds, and SBS‐g‐RGO was dispersed well. In addition, the mechanical and electrical conductivity properties of the SBS‐g‐RGO/SBS composites showed significant improvements because of the excellent interfacial interactions and homogeneous dispersion of SBS‐g‐RGO in SBS. Moreover, the composites exhibited remarkable piezo resistivity under vertical compression and great repeatability after 10 compression cycles; thus, the composites have the potential to be applied in sensor production. © 2018 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2018, 135, 46568.
Correlation between cortical lesions and cognitive impairment in multiple sclerosis
Authors: Curti Erica , Graziuso Stefania , Tsantes Elena , Crisi Girolamo , Granella Franco
Published: April 2018

Objectives

Gray matter (GM) damage is well known as a fundamental aspect of multiple sclerosis (MS). Above all, cortical lesions (CLs) burden, detectable at MRI with double inversion recovery (DIR) sequences, has been demonstrated to correlate with cognitive impairment (CI). The aim of this study was to investigate the role of CLs number in predicting CI in a cohort of patients with MS in a clinical practice setting.

Materials and methods

Thirty consecutive patients with MS presenting CLs (CL+) at high‐field (3.0 T) MRI 3D‐DIR sequences and an even group of MS patients without CLs (CL‐) as a control, were investigated with the Rao Brief Repeatable Battery of Neuropsychological Tests (BRB), Version A. Total and lobar CLs number were computed in CL+ patients.

Results

Among the sixty patients with MS enrolled, forty‐seven (78.3%) had a relapsing‐remitting course, while thirteen (21.7%) a progressive one, eleven secondary progressive, and two primary progressive. Compared to CL−, CL+ patients had a greater proportion of progressive forms (p = .03). The most affected region was the frontal lobe (73.3% of patients), followed by temporal and parietal ones (both 60.0%). Multivariate (logistic regression) analysis revealed a significant correlation between total CLs number and the presence of mild cognitive impairment defined as pathologic score in at least one BRB test (p = .04); it was also correlated with deficit at PASAT 3 (p = .05) and Stroop Test (p = .02).

Conclusions

We confirmed CLs number, evaluated with a technique quite commonly available in clinical practice, as a predictive factor of CI in patients with MS, in order to improve the diagnosis and management of CI and monitor potential neuroprotective effects of therapies.
Effects of high‐intensity ultrasound pretreatment with different levels of power output on the antioxidant properties of alcalase hydrolyzates from Quinoa (Chenopodium quinoa Willd.) protein isolate
Authors: Li Xuan , Da Siying , Li Chen , Xue Feng , Zang Tianli
Published: April 2018

Background and objectives

The effects of ultrasound pretreatment with different levels of power output (200, 400, and 600 W) on hydrolysis degree of Quinoa protein isolate (QPI) and antioxidant activity of QPI hydrolyzate were studied. The secondary structure, surface hydrophobicity, intrinsic fluorescence, and scanning electron microscopy (SEM) of QPI treated by ultrasound were measured. The untreated QPI and high‐temperature treatment (90°C for 30 min) were used as control.

Findings

The results showed that ultrasound pretreatment at 400 W significantly improved the hydrolysis degree of QPI and antioxidant activity of QPI hydrolyzate. The changes in secondary structure, surface hydrophobicity, and intrinsic fluorescence indicated the unfolding of QPI after ultrasound. The SEM results showed that ultrasound treatment resulted in the deformation of QPI.

Conclusions

The improvement in degree of hydrolysis might be related to the changes in structure induced by ultrasound treatment, which supported more groups for the process of enzymatic hydrolysis.

Significance and novelty

The power output selection of ultrasound pretreatment is essential for improvement of accessibility of QPI to the alcalase and preparation of antioxidant peptides.
Congenital erythrocytosis – discover of a new mutation in the EGLN1 gene
Authors: Barradas João , Rodrigues Catarina Dantas , Ferreira Gisela , Rocha Paula , Constanço Conceição , Andrade Maria Reis , Bento Celeste , Silva Helena Matos
Published: April 2018

Key Clinical Message

Congenital erythrocytosis is a hereditary disorder due to an increase in red cell mass that can be caused by mutations in proteins involved in HIF‐α pathway, as PHD2. Hereby, we describe a new familial mutation in PHD2 gene. Considering an increased thrombotic potential, patients began antiplatelet aggregation therapy and phlebotomies.
Improving the Back Surface Field on an Amorphous Silicon Carbide Thin‐Film Photocathode for Solar Water Splitting
Authors: Perez‐Rodriguez Paula , Cardenas‐Morcoso Drialys , Digdaya Ibadillah A. , Raventos Andrea Mangel , Procel Paul , Isabella Olindo , Gimenez Sixto , Zeman Miro , Smith Wilson A. , Smets Arno H. M.
Published: April 2018

Amorphous silicon carbide (a‐SiC:H) is a promising material for photoelectrochemical water splitting owing to its relatively small band‐gap energy and high chemical and optoelectrical stability. This work studies the interplay between charge‐carrier separation and collection, and their injection into the electrolyte, when modifying the semiconductor/electrolyte interface. By introducing an n‐doped nanocrystaline silicon oxide layer into a p‐doped/intrinsic a‐SiC:H photocathode, the photovoltage and photocurrent of the device can be significantly improved, reaching values higher than 0.8 V. This results from enhancing the internal electric field of the photocathode, reducing the Shockley–Read–Hall recombination at the crucial interfaces because of better charge‐carrier separation. In addition, the charge‐carrier injection into the electrolyte is enhanced by introducing a TiO2 protective layer owing to better band alignment at the interface. Finally, the photocurrent was further enhanced by tuning the absorber layer thickness, arriving at a thickness of 150 nm, after which the current saturates to 10 mA cm−2 at 0 V vs. the reversible hydrogen electrode in a 0.2 m aqueous potassium hydrogen phthalate (KPH) electrolyte at pH 4.
Gender equity at scientific events
Authors: Débarre F. , Rode N. O. , Ugelvig L. V.
Published: April 2018

Although the proportion of women in science, and in evolutionary biology in particular, has substantially increased over the last century, women remain underrepresented in academia, especially at senior levels. In addition, their scientific achievements do not always receive the same level of recognition as do men's, which can be reflected in a lower relative representation of women among invited speakers at conferences or specialized courses. Using announcements sent to the EvolDir mailing list between April 2016 and September 2017, and the symposium programs of three large evolutionary biology congresses held in summer 2017, we quantified the representation of women announced as invited speakers in conferences, congress symposia, and specialized courses. We compared the proportion of invited women to a baseline estimated using membership data of the associated scientific societies, and surveyed organizers to investigate their influence and that of potential gender-ratio guidelines on the proportion of invited women. We find that the average proportion of invited women is comparable (conferences), significantly lower (specialized courses), or significantly higher (congress symposia) than the current baseline (32% women). It is positively correlated to the proportion of women among the organizers, and it is on average higher for events whose organizers considered gender when choosing speakers than for those whose organizers did not. To investigate the impact of Equal Opportunity guidelines, we then collected longitudinal data on the proportion of invited women at two series of congresses, covering the 2001–2017 period. The proportion of invited women is higher when Equal Opportunity guidelines are announced. Encouraging women to sit on organizing committees of scientific events, and the establishment of visible Equal Opportunity guidelines, thus could be ways to ensure higher number of invited female speakers in the future. Our results suggest that change, if desired, requires deliberate actions.
Digital Problem Solving: The Literacies of Navigating Life in the Digital Age
Authors: Jacobs Gloria E. , Castek Jill
Published: April 2018

This department column explores digital and disciplinary literacies across learning contexts and disciplines within and outside of school. Digital enhancements will encourage readers to post questions, comments, and connections.
An Electron Density Source‐Function Study of DNA Base Pairs in Their Neutral and Ionized Ground States†
Authors: Gatti Carlo , Macetti Giovanni , Boyd Russell J. , Matta Chérif F.
Published: April 2018

The source function (SF) decomposes the electron density at any point into contributions from all other points in the molecule, complex, or crystal. The SF “illuminates” those regions in a molecule that most contribute to the electron density at a point of reference. When this point of reference is the bond critical point (BCP), a commonly used surrogate of chemical bonding, then the SF analysis at an atomic resolution within the framework of Bader's Quantum Theory of Atoms in Molecules returns the contribution of each atom in the system to the electron density at that BCP. The SF is used to locate the important regions that control the hydrogen bonds in both Watson–Crick (WC) DNA dimers (adenine:thymine (AT) and guanine:cytosine (GC)) which are studied in their neutral and their singly ionized (radical cationic and anionic) ground states. The atomic contributions to the electron density at the BCPs of the hydrogen bonds in the two dimers are found to be delocalized to various extents. Surprisingly, gaining or loosing an electron has similar net effects on some hydrogen bonds concealing subtle compensations traced to atomic sources contributions. Coarser levels of resolutions (groups, rings, and/or monomers‐in‐dimers) reveal that distant groups and rings often have non‐negligible effects especially on the weaker hydrogen bonds such as the third weak CH⋅⋅⋅O hydrogen bond in AT. Interestingly, neither the purine nor the pyrimidine in the neutral or ionized forms dominate any given hydrogen bond despite that the former has more atoms that can act as source or sink for the density at its BCP. © 2018 Wiley Periodicals, Inc.
Magnetic ordering and metal‐atom site preference in tetragonal CrMnAs: Electronic correlation effects
Authors: Lutz‐Kappelman Laura , Zhang Yuemei , Miller Gordon J.
Published: April 2018

The electronic and magnetic structures of tetragonal, Cu2Sb‐type CrMnAs were examined using density functional theory. To obtain reasonable agreement with reported atomic and low‐temperature magnetic ordering in this compound, the intra‐atomic electron–electron correlation in term of Hubbard U on Mn atoms are necessary. Using GGA + U, calculations identify four low‐energy antiferromagnetically ordered structures, all of which adopt a magnetic unit cell that contains the same direct CrCr and CrMn magnetic interaction, as well as the same indirect Mn⋅⋅⋅Mn magnetic interaction across the Cr planes. One of these low‐energy configurations corresponds to the reported case. Effective exchange parameters for metal–metal contacts obtained from SPRKKR calculations indicate both direct and indirect exchange couplings play important roles in tetragonal CrMnAs. © 2018 Wiley Periodicals, Inc.
Fullerene faraday cage keeps magnetic properties of inner cluster pristine
Authors: Avdoshenko Stanislav M.
Published: April 2018

Any single molecular magnets (SMMs) perspective for application is as good as its magnetization stability in ambient conditions. Endohedral metallofullerenes (EMFs) provide a solid basis for promising SMMs. In this study, we investigated the behavior of functionalized EMFs on a gold surface (EMF‐L‐Au). Having followed the systems molecular dynamics paths, we observed that the chemically locked inner cluster inside fullerene cage will remain locked even at room temperature due to the ligand‐effect. We have located multiple possible minima with different charge arrangements between EMF‐L‐Au fragments. Remarkably, the charge state of the EMF inner cluster remained virtually constant and so magnetic properties are expected to be untouched. © 2018 Wiley Periodicals, Inc.
Photovoltaic polymers based on difluoroqinoxaline units with deep HOMO levels
Authors: Song Suhee , Keum Sangha , Lee Ji‐Hyun , Lee Jihoon , Kim Seungmin , Park Seong Soo , Kim Jin Young , Park Sung Heum , Jin Youngeup
Published: April 2018

We report the synthesis of low bandgap polymers with a difluoroquinoxaline unit by Stille polymerization for use in polymer solar cells (PSCs). A new series of copolymers with 2,3‐didodecyl‐6,7‐difluoro quinoxaline as the electron‐deficient unit and alkyloxybenzo[1,2‐b:4,5‐b′]dithiophene and thiophene as the electron‐rich unit were synthesized. The photovoltaic properties of the devices based on the synthesized polymers revealed that the fluorine atoms at the quinoxaline units aid in decreasing the highest occupied molecular orbital (HOMO) energy levels; this in turn increased the open circuit voltage of the devices. The polymers with long alkyl chains exhibited good solubility that increased their molecular weight, but the power conversion efficiency was low. Efficient polymer solar cells were fabricated by blending the synthesized copolymers with PC71BM, and the PCE increased up to 5.11% under 100 mW cm−2 AM 1.5 illumination. These results demonstrate that the importance of having a control polymer to be synthesized and characterized side by side with the fluorine analogues. © 2018 Wiley Periodicals, Inc. J. Polym. Sci., Part A: Polym. Chem. 2018, 56, 1489–1497
Frontal polymerization for smart intrinsic self‐healing hydrogels and its integration with microfluidics
Authors: Tsegay Nigus Mesele , Du Xiang‐Yun , Liu Si‐Si , Wang Cai‐Feng , Chen Su
Published: April 2018

Frontal polymerization (FP) is applied for the synthesis of β‐cyclodextrin/poly(vinylimidazole‐co‐N‐vinylcaprolactam‐co‐acrylic acid) (β‐CD/P(VI‐co‐NVCL‐co‐AA)) copolymers. The dependence of frontal velocity and temperature on the initiator and cross‐linker are discussed. The synthesized copolymers have been characterized by Fourier transform infrared (FTIR), thermogravimetric analysis (TGA), and scanning electron microscopy (SEM). The thermo‐pH dual‐stimuli responsive behavior of the hydrogel is determined by swelling measurement at different temperatures and pH values. Besides, the hydrogels show intrinsic self‐healing behavior and their healing efficiency is determined by the mechanical tests. Interestingly, we integrate FP with microfluidic technology, which may realize the execution of FP under continuous condition. Such simple microfluidics‐FP integrated approach has both methodological and practical value for the synthesis of functional materials. This paper mainly presents the synthesis and characterization of β‐cyclodextrin/poly(vinylimidazole‐co‐N‐vinylcaprolactam‐co‐acrylic acid) (β‐CD/P(VI‐co‐NVCL‐co‐AA)) copolymers by using thermal frontal polymerization (TFP). Hydrogels were found to be self‐healing with good mechanical performance and show dual thermo‐pH responsive behavior. Low‐cost, energy‐saving and efficient method of thermal frontal polymerization process was integrated with microfluidics technology to prepare supraball hydrogel. © 2018 Wiley Periodicals, Inc. J. Polym. Sci., Part A: Polym. Chem. 2018, 56, 1412–1423
Synthesis and characterization of novel phosphonated and sulfonated poly(styrene–isobutylene–styrene) for fuel cell and protective clothing applications
Authors: Ruiz‐Colón Eduardo , Pérez‐Pérez Maritza , Suleiman David
Published: April 2018

A novel aromatic block–graft copolymer of sulfonated poly(styrene–isobutylene–styrene)‐graft‐poly(vinyl phosphonic acid) (SIBS‐g‐PVPA SO3H) was synthetized for direct methanol fuel cell (DMFC) and chemical and biological protective clothing (CBPC) applications. The polystyrene (PS) blocks of SIBS were chloromethylated via a Friedel–Crafts reaction to obtain the macroinitiator SIBS‐CH2Cl. Atom transfer radical polymerization (ATRP) was performed to graft VPA to the chloromethylated groups of the macroinitiator and yield SIBS‐g‐PVPA, which was subsequently sulfonated using acetyl sulfate as the sulfonating agent. After each functionalization step, a membrane was prepared by using the solvent casting technique. The final membrane was composed of triblock SIBS as the backbone, PVPA grafts attached to the chloromethylated PS end blocks and sulfonic groups in the non‐chloromethylated PS units. A comprehensive materials characterization study (e.g., GPC, FTIR, TGA, EA) was performed to confirm proper functionalization of each material. Unique ionic interactions (i.e., crosslinking via formation of sulfonate–phosphonium complexes) arose between the phosphonic and sulfonic groups (i.e., PO3H2 and SO3H, respectively) that enhanced the water absorption capabilities, thermal and oxidative stability, and the transport properties of SIBS. The SIBS‐g‐PVPA SO3H membrane presented high Nafion® normalized selectivity and separation efficiency, indicating that this ionomer adequately functions for both applications. © 2018 Wiley Periodicals, Inc. J. Polym. Sci., Part A: Polym. Chem. 2018, 56, 1424–1435
Enhancing cationic ring‐opening photopolymerization of cycloaliphatic epoxides via dark cure and oxetanes
Authors: Kaalberg Sara , Jessop Julie L. P.
Published: April 2018

Due to the longevity of the cationic active centers, cationic ring‐opening photopolymerization can continue after illumination ceases. In addition, substantial reactivity enhancement for epoxides is realized through copolymerization with oxetanes. Here, the separate reactions of epoxide and oxetane moieties were resolved during illumination and subsequent dark cure via real‐time Raman spectroscopy. Using oxetane additives, reactivity and conversion of 3,4‐epoxycyclohexylmethyl‐3′,4′‐epoxycyclohexane carboxylate (EEC) were improved during illumination and subsequent dark cure through modulation of the initial formulation viscosity and selection of the oxetane secondary functional groups. The largest enhancement in reactivity occurred with secondary groups comprising either aliphatic chains with their flexibility or hydroxyls with their chain‐transfer capacity. In contrast, oxetanes containing UV‐absorbing phenyl rings reduced the initiation efficiency, and difunctional oxetanes suppressed overall conversion through additional crosslinking. Although bulk conversion was directly related to initial formulation viscosity, the impact of the oxetane secondary functional groups was greater. © 2018 Wiley Periodicals, Inc. J. Polym. Sci., Part A: Polym. Chem. 2018, 56, 1436–1445