bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel mutations in DNA2 associated with myopathy and mtDNA instability
Authors: Ronchi Dario , Liu Changwei , Caporali Leonardo , Piga Daniela , Li Hongzhi , Tagliavini Francesca , Valentino Maria Lucia , Ferrò Maria Teresa , Bini Paola , Zheng Li , Carelli Valerio , Shen Binghui , Comi Giacomo Pietro 
Published: September 2019

AbstractThe maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi‐catalytic protein involved in the removal of single strand DNA during mtDNA replication or Long Patch Base Excision Repair pathway. We have previously described DNA2 mutations in adult patients affected with familial and sporadic forms of mitochondrial myopathy. Here we describe four novel probands presenting with limb weakness associated with novel DNA2 molecular defects. Biochemical assays were established to investigate the functional effects of these variants.
Metal–organic framework derived Pd/ZrO2@CN as a stable catalyst for the catalytic hydrogenation of 2,3,5‐trimethylbenzoquinone
Authors: Li Shasha , Pan Jianping , Wu Xiaoxue , Fu Yanghe , Xiao Qiang , Zhang Fumin , Zhu Weidong 
Published: September 2019

Metal–organic frameworks (MOFs) have recently been identified as versatile sacrificing templates to construct functional nanomaterials for heterogeneous catalysis. Herein, we report a thermal transformation strategy to directly fabricate metal Pd nanoclusters inlaid within a ZrO2@nitrogen‐doped porous carbon (Pd/ZrO2@CN) composite using Pd@NH2‐UiO‐66(Zr) as a precursor that was pre‐synthesized by a one‐pot hydrothermal method. The developed Pd/ZrO2@CN as a robust catalyst delivered remarkable stability and activity to the catalytic hydrogenation of 2,3,5‐trimethylbenzoquinone (TMBQ) to 2,3,5‐trimethylhydroquinone (TMHQ), a key reaction involved in vitamin E production. The hydrogenation was carried out at 110 °C with 1.0 MPa H2, and it resulted in 98% TMHQ yield as the sole product over five consecutive cycles, outperforming the analogue Pd/ZrO2@C without nitrogen doping templated from Pd@UiO‐66(Zr). The excellent catalytic properties of Pd/ZrO2@CN likely originated from the highly stable ultrafine Pd nanoclusters inlaid within ZrO2@CN matrix on account of the strong interaction between N and Pd, as well as on the Lewis acidity of ZrO2, which was beneficial to the hydrogenation.
Birth of a nation‐state: A battle for boundaries or dialogue?
Authors: Salaam Abdel‐Malek Hana 
Published: September 2019

AbstractIn this article, I propose extending group and family psychoanalytic theories to understand the unconscious dynamics that may underlie a nation‐state's constitution and the conflict that manifests during the process of establishment. I reflect on Lebanon's history, its birth, its development, and its crises during its process of “becoming.” An independent nation‐state requires clear borders or a body envelope to build itself; otherwise, its psychic envelope will fail to contain and transform primitive transgenerational persecutory and annihilating anxieties of its nation‐group and its citizens. I also analyze whether Lebanon's difficulty in delineating its borders has left it in a state of confusion with its two Siamese neighbors and characterize its group psychic apparatus as a pregenital, narcissistic, “incestual” mode of family functioning. I then reflect on whether Lebanese citizens are metaphorically part objects, who enact, through their fraternal pacts, the unconscious fratricidal fantasies of the archaic fraternal complex. Through these psychoanalytic reflections, I hope to contribute to the national and international dialogues and facilitate sibling countries to better mourn their original symbiotic state, thus allowing the Lebanese, as a result, to build their own nation‐state.
The Violence Reduction Programme: An exploration of posttreatment risk reduction in a specialist medium‐secure unit
Authors: Horgan Harry , Charteris Chloe , Ambrose Derval 
Published: September 2019

AbstractBackgroundThere is limited evidence for treatment programmes for offenders with a diagnosis of personality disorder deemed to be of high risk of violence towards others.AimThis study sought to evaluate change in clinician‐rated risk of violence in males among offenders accepted to a specialist medium‐secure hospital providing treatment based on the Violence Reduction Programme (VRP).MethodA retrospective, records‐based cohort study design was used to explore change in risk of violence in a sample including five VRP cohorts composed of 33 offenders. Violence risk scale (VRS) score was the primary outcome measure. Correlates of treatment dropout were also explored.ResultsTwenty‐seven men completed treatment. Paired pretreatment and posttreatment VRS scores were available for 19 men. Six men disengaged with treatment. There was a significant mean reduction in risk of violence score (d = 1.08). At the individual level, eleven (57%) participants in the VRP showed reliable reduction in risk of violence. No treatment completers with a complete rating pair demonstrated an increased risk of violence. Younger age and referral from prison were significantly associated with treatment dropout.ConclusionVRP‐based treatment appears to be a promising intervention for specialist services for offenders with a personality disorder diagnosis in the United Kingdom. Longer term follow‐up to ascertain whether these apparent treatment gains are accompanied by actual reduction in violent recidivism is now required, and a full scale trial warranted.
Total buried bumper syndrome: A case study in transabdominal removal using a technique of endoscopic submucosal dissection
Authors: Nakamura Hajime , Kikuchi Shohei , Ohnuma Hiroyuki , Hirakawa Masahiro , Kato Junji 
Published: September 2019

AbstractTube removal by endoscopic submucosal dissection using needle and insulation‐tipped diathermic knives against buried bumper syndrome is a reliable, noninvasive and safe procedure.
Restrictive feeding and excessive hunger in young children with obesity: A case series
Authors: Eagleton Sally G. , Brown Callie L. , Moses Melissa J. , Skelton Joseph A. 
Published: September 2019

AbstractTreatment recommendations for childhood obesity include guidance to reduce portions and the consumption of high‐energy‐dense foods. These messages may unintentionally promote restrictive feeding among parents of children with obesity with excessive hunger. Clinical guidance may benefit from framing treatment messages to parents in the context of a nonrestrictive feeding style.
A case report of a mammary myofibroblastoma in a male and literature review of radiologic and pathologic features of breast myofibroblastoma
Authors: Akrami Majid , Ebrahimian Saba , Safaei Akbar , Tabrizi Zhale , Ebrahimian Shadi 
Published: September 2019

AbstractWe reported a 65‐year‐old male with a benign mammary myofibroblastoma. This report shows that not all masses of male breast are malignant. To differentiate benign masses from malignant neoplasms, careful preoperative diagnosis should be performed. Preoperative diagnosis of the tumor prevents placing a huge financial and mental burdens on patients.
Organocatalytic Enantioselective Mukaiyama–Mannich Reaction of Isatin‐Derived Ketimines for the Synthesis of Oxindolyl‐β3, 3‐Amino Acid Esters
Authors: Hajra Saumen , Laskar Sujay , Jana Bibekananda 
Published: September 2019

AbstractMukaiyama–Mannich reactions of ester enolate equivalents with aldimines have been elegantly used for the asymmetric synthesis of β‐amino acids; nevertheless, the corresponding asymmetric reaction employing ketimines are unexplored. Herein, the first organocatalytic enantioselective Mukaiyama–Mannich reaction employing isatin‐derived ketimines with unsubstituted silyl ketene acetals is disclosed towards the scalable synthesis of 2‐oxoindolinyl‐β3, 3‐amino acid esters at room temperature with excellent enantioselectivities (ee >99.5 %). Ultra‐low catalyst loadings (as low as 250 ppm) could be used for the quantitative product formation with high enantiopurity. The synthetic utility of this protocol has been showcased in the short formal synthesis of pharmaceutically demanded (+)‐AG‐041R, a potent gastrin/CCK‐B receptor antagonist.
Classification of Fine Particles Using the Hydrodynamic Forces in the Boundary Layer of a Membrane
Authors: Lösch Philipp , Nikolaus Kai , Antonyuk Sergiy 
Published: September 2019

AbstractThe wet classification of particles < 10 μm is a complex process that has been researched for many years. In this study, the usage of a modified cross‐flow filtration process as a classification process was investigated. With this process, particles in a fine micrometer range can be separated from suspensions. The upper particle size is dependent on hydrodynamic forces. The experimental results were compared with different hydrodynamic force models to predict upper size. The influence of the permeate flux and the particle concentration in the feed on the upper particle size is studied.
Online corporate social responsibility communication strategies and stakeholder engagements: A comparison of controversial versus noncontroversial industries
Authors: Song Baobao , Wen Jing (Taylor) 
Published: September 2019

AbstractThis study attempts to reveal the corporate social responsibility (CSR) programming and communication strategies of companies from controversial versus noncontroversial industry sectors and stakeholders' responses to these online CSR communications. A content analysis of CSR videos from 58 companies among the Fortune 500 and user comments on YouTube found that controversial and noncontroversial industries tended to use different strategies in their online CSR communications. Videos that (a) used information strategies, (b) took a company‐dominant perspective, and (c) described high fit CSR programs received more negative and skeptical comments; CSR videos that (a) emphasized the companies' commitment to the programs, (b) demonstrated the impact of CSR programs with anecdotal evidences, and (c) balanced their stated CSR motives between social benefits and business interests received less negative and skeptical comments. Most importantly, stakeholders' responses towards these communication strategies differed by industry sectors.
The diagnostic and prognostic role of flow cytometry in idiopathic and clonal cytopenia of undetermined significance (ICUS/CCUS): A single‐center analysis of 79 patients
Authors: Dimopoulos Konstantinos , Hansen Olga Kristina , Sjö Lene Dissing , Saft Leonie , Schjødt Ida Marianne , Werner Hansen Jakob , Grønbæk Kirsten 
Published: September 2019

AbstractObjectiveThe aim of this study was to evaluate the diagnostic and prognostic role of multiparameter flow cytometry (FC) in patients with idiopathic cytopenia of undetermined significance (ICUS) and clonal cytopenia of undetermined significance (CCUS).MethodsWe performed FC using a standardized panel and two different diagnostic algorithms (Ogata, Wells) in a well‐characterized cohort of 79 patients with ICUS/CCUS and compared it with a retrospective blinded morphological evaluation and data from targeted next‐generation DNA sequencing of 20 myelodysplastic syndrome (MDS)‐related genes.ResultsOur data show that FC has low sensitivity in distinguishing CCUS from ICUS patients (40.5% for Ogata score and 59.5% for Wells score). The Wells score was suggestive of dysplasia in ICUS/CCUS patients with concurrent morphological signs of dysplasia in the bone marrow (following re‐evaluation by two hematopathologists) and in CCUS patients with a higher mutational burden. Eight patients with ICUS/CCUS from our cohort progressed to another myeloid malignancy (MDS, acute myeloid leukemia, or chronic myelomonocytic leukemia), all showing flow cytometric signs of dysplasia.ConclusionFC performs poorly in diagnosing CCUS versus ICUS. However, it can potentially provide prognostic information in cytopenic patients by identifying a subgroup of patients with a higher grade of dysplasia, higher mutational burden, and higher risk of progression and, together with mutational screening, also identify a group of patients who might require morphological reassessment of dysplastic changes in their bone marrow.
The cost of standing tall: wood nutrients associated with tree invasions in nutrient‐poor fynbos soils of South Africa
Authors: Redmond Miranda D. , Morris Taryn L. , Cramer Michael C. 
Published: September 2019

AbstractTree invasions into native grasslands and shrublands are global phenomena, with alien tree invasions occurring on nearly every continent. We hypothesized that wood nutrient concentrations are a key trait to enable successful tree invasions in regions limited by soil nutrient availability, such as the fynbos vegetation of the Cape Floristic Region of South Africa. We sampled wood and bark of a height range of indigenous and alien woody species within the Cape Floristic Region. We used linear regression and phylogenetic analyses to assess associations between wood nutrients and tree height and analysis of variance to assess how wood nutrients vary across vegetation types. Alien trees had lower wood nutrient concentrations than many native trees, and nutrient concentrations, especially not only N and P, but also Mg and K, were negatively associated with tree height. These results suggest that recent tree invasions into the nutrient‐poor fynbos shrublands may be a result of low wood nutrient concentrations that allow the alien trees to successfully overtop the native vegetation. This indicates that wood nutrient concentrations may be a useful trait to predict whether an alien tree species has a greater potential of becoming invasive in regions with limited soil nutrients.
A non‐gassing electroosmotic pump with sandwich of poly(2‐ethyl aniline)‐Prussian blue nanocomposite and PVDF membrane
Authors: Chola Noufal Merukan , Sreenath Sooraj , Dave Brinda , Nagarale Rajaram K 
Published: September 2019

AbstractLow voltage, non‐gassing electroosmotic pump (EOP) was assembled with poly(2‐ethyl aniline) (EPANI)‐Prussian blue nanocomposite electrode and commercially available hydrophilic PVDF membranes. The nanocomposite material combines excellent oxidation/reduction capacity of EPANI with exceptional stability by shuttling of proton between Prussian blue nanoparticles and EPANI redox matrix. The flow rate was highly dependent on the electrode composition but it was linear with applied voltage. The flow rate at 5 V for different nanocomposite, EPANI, EPANI‐A, EPANI‐B, and EPANI‐C were 127.29, 187.41, 148.51, and 95.47 µL/min cm2, respectively, which increases substantially with increase in the Prussian blue content. The obtained best electro osmotic flux was 43 µL/min/V/cm2 for EPANI‐A. It was higher than most of the EOP assembled using polyquinone and polyanthraquinone redox polymers. The assembled EOP remained exceptionally stable until the electrode charge capacity was fully utilized. The best EOP produces a maximum stall pressure of 1.2 kPa at 2 V. These characteristics make it suitable for a variety of microfluidic/device applications.
Leveraging mobility and content caching for proactive load balancing in heterogeneous cellular networks
Authors: Manzoor Sanaullah , Mazhar Suleman , Asghar Ahmad , Noor Mian Adnan , Imran Ali , Crowcroft Jon 
Published: September 2019

AbstractEvolution of cellular networks into dynamic, dense, and heterogeneous networks have introduced new challenges for cell resource optimization, especially in the imbalanced traffic load regions. Numerous load balancing schemes have been proposed to tackle this issue; however, they operate in a reactive manner that confines their ability to meet the top‐notch quality of experience demands. To address this challenge, we propose a novel proactive load balancing scheme. Our framework learns users' mobility and demands statistics jointly to proactively cache future contents during their stay at lightly loaded cells, which results in quality of experience maximization and load minimization. System level simulations are performed and compared with the state‐of‐the‐art reactive schemes.
Drosophila ClC‐a is required in glia of the stem cell niche for proper neurogenesis and wiring of neural circuits
Authors: Plazaola‐Sasieta Haritz , Zhu Qi , Gaitán‐Peñas Héctor , Rios Martín , Estévez Raúl , Morey Marta 
Published: September 2019

AbstractGlial cells form part of the neural stem cell niche and express a wide variety of ion channels; however, the contribution of these channels to nervous system development is poorly understood. We explored the function of the Drosophila ClC‐a chloride channel, since its mammalian ortholog CLCN2 is expressed in glial cells, and defective channel function results in leukodystrophies, which in humans are accompanied by cognitive impairment. We found that ClC‐a was expressed in the niche in cortex glia, which are closely associated with neurogenic tissues. Characterization of loss‐of‐function ClC‐a mutants revealed that these animals had smaller brains and widespread wiring defects. We showed that ClC‐a is required in cortex glia for neurogenesis in neuroepithelia and neuroblasts, and identified defects in a neuroblast lineage that generates guidepost glial cells essential for photoreceptor axon guidance. We propose that glia‐mediated ionic homeostasis could nonautonomously affect neurogenesis, and consequently, the correct assembly of neural circuits.
Changes in calcium metabolism and bone mineral density in new users of medroxyprogesterone acetate during the first year of use
Authors: Quintino‐Moro Alessandra , Zantut‐Wittmann Denise E. , Silva dos Santos Priscilla N. , Silva Conceição A. , Bahamondes Luis , Fernandes Arlete 
Published: September 2019

AbstractObjectiveTo evaluate calcium metabolism and bone mineral density (BMD) in new users of depot medroxyprogesterone acetate (DMPA) in the first year of use.MethodsThis prospective, non‐randomized study, conducted at the University of Campinas, São Paulo, Brazil, was carried out between February 2011 and February 2013. Women aged from 18 to 40 with a body mass index (BMI, calculated as weight in kilograms divided by the square of height in meters) <30 and with no known history of disease or medication use who chose to use DMPA were paired by age (±1 year) and BMI (±1) with women commencing the use of a copper intrauterine device (IUD). The primary outcomes were BMD measured by dual‐energy X‐ray absorptiometry and calcium metabolism markers; other variables were body composition and lifestyle habits. Repeated measures analysis of variance (ANOVA) and multiple regression analyses were used to evaluate associations.ResultsTwenty‐seven women using DMPA and 24 using IUD were evaluated, with a mean age of 29.7 years and 28.6 years, respectively. The DMPA group presented with a 3.6% (P<0.001) loss of lumbar spine BMD, a 2.1% (P=0.100) loss of femoral neck BMD and higher phosphorus (P=0.014) concentrations at 12 months compared to the IUD group. The decreases in BMD were associated with the use of DMPA, while total mass and coffee intake were found to be protective factors.ConclusionChanges in calcium metabolism and a decrease in BMD were found in the DMPA group at 12 months.
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing
Authors: Reuter Chloe M. , Kohler Jennefer N. , Bonner Devon , Zastrow Diane , Fernandez Liliana , Dries Annika , Marwaha Shruti , Davidson Jean , Brokamp Elly , Herzog Matthew , Hong Joyce , Macnamara Ellen , Rosenfeld Jill A. , Schoch Kelly , Spillmann Rebecca ,   Undiagnosed Diseases Network, Loscalzo Joseph , Krier Joel , Stoler Joan , Sweetser David , Palmer Christina G.S. , Phillips John A. , Shashi Vandana , Adams David A. , Yang Yaping , Ashley Euan A. , Fisher Paul G. , Mulvihill John J. , Bernstein Jonathan A. , Wheeler Matthew T. 
Published: September 2019

AbstractBackgroundDespite growing evidence of diagnostic yield and clinical utility of whole exome sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and reimbursement barriers limiting access to such testing. The diagnostic yield and resulting clinical actions of WES for patients who previously faced insurance coverage barriers have not yet been explored.MethodsWe performed a retrospective descriptive analysis of clinical WES outcomes for patients facing insurance coverage barriers prior to clinical WES and who subsequently enrolled in the Undiagnosed Diseases Network (UDN). Clinical WES was completed as a result of participation in the UDN. Payer type, molecular diagnostic yield, and resulting clinical actions were evaluated.ResultsSixty‐six patients in the UDN faced insurance coverage barriers to WES at the time of enrollment (67% public payer, 26% private payer). Forty‐two of 66 (64%) received insurance denial for clinician‐ordered WES, 19/66 (29%) had health insurance through a payer known not to cover WES, and 5/66 (8%) had previous payer denial of other genetic tests. Clinical WES results yielded a molecular diagnosis in 23 of 66 patients (35% [78% pediatric, 65% neurologic indication]). Molecular diagnosis resulted in clinical actions in 14 of 23 patients (61%).ConclusionsThese data demonstrate that a substantial proportion of patients who encountered insurance coverage barriers to WES had a clinically actionable molecular diagnosis, supporting the notion that WES has value as a covered benefit for patients who remain undiagnosed despite objective clinical findings.
The need for biochemical testing in beta‐enolase deficiency in the genomic era
Authors: Wigley Ralph , Scalco Renata S. , Gardiner Alice R. , Godfrey Richard , Booth Suzanne , Kirk Richard , Hilton‐Jones David , Houlden Henry , Heales Simon , Quinlivan Ros 
Published: September 2019

AbstractGlycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of glycolysis. Enzyme kinetic studies of two patients presenting with exertion intolerance and recurrent rhabdomyolysis are reported. Next generation sequencing confirmed patient 1 was homozygous for p.E187K in ENO3, while patient 2 was homozygous for p.C357Y. ENO3 variants pathogenicity was confirmed by functional studies in skeletal muscle. p.E187K caused extremely low total enolase activity. p.C357Y was associated with a higher level of residual activity but kinetic studies showed a lower maximum work rate (Vmax). This study illustrates that GSDXIII may be caused by either null mutations leading to β‐enolase deficiency or by mutations that alter the enzyme's kinetic profile. This study highlights the importance of carrying out functional studies as part of the diagnostic process following the identification of variants with next generation sequencing.