bluuebunny/crossref_metadata_2025_split huggingface dataset:
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum
Authors: Nerakh Gayatri , Ranganath Prajnya , Murugan Sakthivel 
Published: July 2020

AbstractMultiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular dystrophy (DMD) phenotype. This study looks at the diagnostic yield of next-generation sequencing (NGS) and the mutation spectrum in an Asian Indian cohort of MLPA-negative cases with the DMD phenotype. NGS-based sequencing of DMD gene was done in 28 MLPA-negative cases (25 male probands with the DMD phenotype and 3 obligate carrier mothers of deceased affected male patients) and disease-causing variants were identified in 19 (67.9%) of these cases. Further molecular testing in four of the remaining nine cases revealed gene variants associated with limb girdle muscular dystrophies. Thus, NGS-based multigene panel testing for muscular dystrophy-associated genes or clinical exome sequencing rather than targeted DMD gene sequencing appears to be a more cost-effective testing modality with better diagnostic yield, for MLPA-negative patients with the DMD phenotype.
Use of 4-Dimensional Cone Beam Computed Tomography Scan to Estimate the Planning Target Volume Margin in Lung Tumors
Authors: Reddy B. Namratha Sai , Shivananjappa Rashmi , S.N Geeta , Tiwari Richa 
Published: July 2020

Introduction This study aimed to estimate the planning target volume (PTV) margin in lung tumors using 4D computed tomography (CT) scan and evaluate other factors that have an effect on tumor motion.
Materials and Methods We recruited 43 biopsy-proven, newly diagnosed carcinoma lung patients who were treated with definitive intent from January 2017 to June 2018. The radiation dose was delivered using a 3D conformal radiation therapy (CRT)/intensity-modulated radiotherapy (IMRT)/volumetric modulated arc therapy (VMAT) plan to a dose of 6000 to 6600 cGy in 30 or more fractions to the whole primary. All patients underwent 4D CT scan on the Elekta machine where all the 10 phases of respiration in free breathing were recorded. These phases are fused with CT simulation images, on which gross tumor volume (GTV) and clinical target volume (CTV) are contoured in all phases of respiration. Following this, an internal target volume (ITV) was created by measuring tumor motion all the directions from the center of tumor and PTV was concluded.
Results The mean ITV for tumor in all six directions, that is, in superior, inferior, anterior, posterior, medial and lateral directions was 0.9, 0.9, 0.8, 0.9, 0.8, and 0.9 cm, respectively. For coverage of tumor for 90% of patients, the margins required in superior, inferior, anterior, posterior, medial, and lateral directions were 1.3, 1.5, 1.5, 1.4, 1.5, and 1.3 cm, respectively. Other factors such as size of the tumor and location of the tumor did not significantly contribute to PTV changes in our study.
Conclusion Mean ITV for tumor in all six directions summed up to be 0.8 cm, but there was significant movement in inferior direction for upper lobe tumors (0.9 cm) (p = 0.008), in medial direction for middle lobe tumors (0.8 cm) (p = 0.05), and in medial direction for lower lobe tumors (0.75 cm) (p = 0.005).
The Clinicopathological Features and Staging at Presentation of Gastric Cancer: A Single-Center Retrospective Study
Authors: Chong Syn Yi , Ang Soo Fan 
Published: July 2020

Introduction Gastric cancer (GC) is the third leading cause of cancer death, with most patients diagnosed at a later stage, with distant metastasis at the time of presentation, contributing to poor prognosis. GC has been associated with nonspecific clinical presentations, which cause a time delay for patients to seek for medical advice. This study aims to identify the clinicopathological features of GC patients and correlate time delay of the diagnosis to the staging of the disease.
Materials and Methods This is a single-center retrospective study of GC patients diagnosed from January 2012 to December 2018. All relevant data of GC patient diagnosed during this time period were extracted from the patients’ case notes.
Results A total of 69 GC patients were included in this study, with male preponderance and mean age of 62 years old. The top three symptoms presented are dyspepsia or ingestion (47.8%), weight loss (43.5%), and nausea or vomiting (33.3%). The mean time delay was 3.7 months. Patients presented with weight loss have a significantly longer average time delay of 4.88 months. Most tumor lesion was found at the distal stomach (43.5%), while 74.5% tested negative for Helicobacter pylori. Most patients were diagnosed at Stage IV (52.6%) and Stage III (36.8%) of the disease, with poorly differentiated (67.7%) histological features which have poor prognosis.
Discussion and Conclusion No evidence of specific symptom or combination of symptoms predicts higher risk of GC. Regardless of the number of symptoms presented or the time delay, most GC patients were diagnosed at later stage of the disease. The study shows the importance of GC screening in Malaysia to ensure early detection, even before a symptom presented.
Effect of alkyl chain length on interfacial structure of imidazolium-based tetrafluoroborate ionic liquids on Au(100) electrodes
Authors: Dong Yubin 
Published: July 2020

Abstract
The molecular dynamics simulations are employed to investigate the electric double layer structure of three different ionic liquids on single crystalline Au(100) electrodes. We used the same anion BF4
-, and three different cations, 1-Cn(n = 2,4,6)-3-methylimidazolium, respectively. We earn to find out how the alkyl chain length of the cation affects their interfacial structure. All ionic liquids have a significant layered structure within the distance 16 Å from the electrode surface, and the results are similar to those of the other research groups. The imidazole ring of cations tends to be distributed parallel to the surface of the neutral electrode due, as the chain length increases, this trend becomes more apparent, due to the increasing of steric hindrance of cations. The same trend has been found in the system of charged Au electrodes.
Controlling opto-electronic characteristics of ternary II–VI alloyed quantum dots: alcohol processing assay
Authors: Kheirandish E , Marnocha J C , Kouklin N 
Published: July 2020

Abstract
For their ultra-wide color gamut, high efficiency, robustness, and solution processability, Cd-based alloy semiconductor quantum dots (AQDs) continue to proliferate by driving innovations in the fields of optoelectronics, photovoltaics, multiplex bio-imaging, and cancer research. Herein, non-toxic, low-cost isopropyl alcohol vapor-based oxidative treatment protocol is developed and applied to tune the light emission spectrum of crystalline core–shell CdSe1−xSx/ZnS quantum dots. As evidenced by the results of structural investigations, these AQDs when exposed to vapors produced ultrasonically from 10:1 isopropyl alcohol-to-water mix undergo an isotropic, diameter non-specific size reduction at the rate of ∼1.3 Å min−1. Nonlinear time-dependent spectral shifts, revealed experimentally, are consistent with the results of the effective-mass approximation treatment. The emission yields are seen to undergo an initial drop, yet to plateau as the etch time increases. The study opens a door to a soft, top-down monotonic tailoring of the light emission characteristics and opto-electronic response of stoichiometrically- and hierarchically-complex core–shell constructs in technologically-viable group II–VI nano-semiconductors as well as AQD-based catalytic conversion of organic compounds.
Thinking Beyond the “Core” Antibiotic Stewardship Interventions: Shifting the Onus for Appropriate Antibiotic Use from Stewardship Teams to Prescribing Clinicians
Authors: Jenkins Timothy C , Tamma Pranita D 
Published: July 2020

Abstract
United States guidance for hospital antibiotic stewardship has emphasized prospective audit and feedback and prior authorization of select antibiotics as core interventions. These remain the most common interventions implemented by stewardship programs. Although these approaches have been shown to reduce unnecessary antibiotic use, they incorrectly put the onus for appropriate antibiotic use on the stewardship team rather than the prescribing clinician. We propose that a primary focus of stewardship programs should be implementation of broader interventions that engage frontline clinicians and equip them with tools to integrate antibiotic stewardship into their own daily practice, thus reducing the need for day-to-day stewardship team oversite. We discuss a framework of broader interventions and policies that will facilitate this paradigm shift.
Grandparent–Adult Grandchild Relationships: Development of a Typology Using Latent Class Analysis
Authors: Barrett Anne E , Gunderson Justine 
Published: July 2020

Abstract

Background and Objectives
Grandparent–adult grandchild relationships may not be captured in existing grandparenting typologies, which focus on early stages of these relationships. Our study develops a typology for later stages, estimates the prevalence of grandparents in each category, and examines associations between category membership and grandparent and grandchild characteristics.

Research Design and Methods
Using a sample of 289 grandparents from the latest wave of the Longitudinal Study of Generations (2005), we employed latent class analysis to examine underlying categories of grandparent–adult grandchild relationships, based on four dimensions—frequency of contact, relationship quality, grandparents’ receipt of support, and geographic distance.

Results
Three latent classes emerged: Geographically Distant/Low Contact (45%), Geographically Close/High Contact (42%), and Geographically Close/Low Contact (13%). While geographic distance and frequency of contact were dimensions distinguishing grandparent–adult grandchild relationships, receipt of support and relationship quality were not. Most grandparents reported close relationships but infrequent support.

Discussion and Implications
By identifying categories of grandparent–adult grandchild relationships and factors influencing membership in them, our study may aid in efforts to strengthen those characterized by weak bonds—namely, those with grandparents who are older, frailer, and poorer.
Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy
Authors: Morena Francesco , Argentati Chiara , Acquati Serena , DeWall Stephen , Kelly Fiona , Calbi Valeria , Fumagalli Francesca , Zancan Stefano , Biffi Alessandra , Aiuti Alessandro , Martino Sabata 
Published: July 2020

Abstract

Background
Cerebrospinal fluid (CSF) has emerged as a sensitive matrix for the screening of biomarkers for diagnosis and clinical follow-up of diseases with neurological manifestations, including some lysosomal storage disorders. In this study, we assessed the range of values of arylsulfatase A (ARSA) activity in the CSF of pediatric and adult donors, and in pediatric patients who underwent gene therapy for metachromatic leukodystrophy (MLD).

Methods
A cohort of 56 CSF samples was included in the study: pediatric donors (n = 36), adult donors (n = 9), and MLD patients (n = 11) at different timepoints [pre-gene therapy (GT), post-GT + 1 Year, post-GT + 2 Years, post-GT + 3 Years]. We have used our fluorometric assay for the determination of ARSA activity. The total protein content in the samples was also evaluated.

Results
We discovered that ARSA activity was higher in pediatric donors (geometric mean: 1.039 nmol/mg/h; 95% range: 0.859–1.258 nmol/mg/h) compared to adults (geometric mean: 0.305 nmol/mg/h; 95% range: 0.214–0.435 nmol/mg/h). No ARSA activity was detected in the CSF of MLD patients pre-GT, whereas ARSA activity was stably expressed and almost restored to range of values of pediatric donors in MLD patients post-GT + 3 Years with a geometric mean of 0.822 nmol/mg/h (95% range: 0.580–1.165 nmol/mg/h).

Conclusions
This study establishes range of values of ARSA activity in the CSF for MLD clinical practice. The observed ranges of ARSA activities in CSF exhibited an unpredicted age dependence and, in turn, revealed the need of using pediatric ARSA activity for evaluating the restoration of the enzyme activity during the therapy of MLD.
Hepatitis B seroprevalence in the U.S. military and its impact on potential screening strategies
Authors: Scott Paul T , Cohen Robert L , Brett-Major David M , Hakre Shilpa , Malia Jennifer A , Okulicz Jason F , Beckett Charmagne G , Blaylock Jason M , Forgione Michael A , Harrison Stephen A , Murray Clinton K , Rentas Francisco J , Fahie Roland L , Armstrong Adam W , Hayat Aatif M , Pacha Laura A , Dawson Peter , Blackwell Beth , Eick-Cost Angelia A , Maktabi Hala H , Michael Nelson L , Jagodzinski Linda L , Cersovsky Steven B , Peel Sheila A 
Published: July 2020

AbstractIntroductionKnowledge of the contemporary epidemiology of hepatitis B virus (HBV) infection among military personnel can inform potential Department of Defense (DoD) screening policy and infection and disease control strategies.Materials and MethodsHBV infection status at accession and following deployment was determined by evaluating reposed serum from 10,000 service members recently deployed to combat operations in Iraq and Afghanistan in the period from 2007 to 2010. A cost model was developed from the perspective of the Department of Defense for a program to integrate HBV infection screening of applicants for military service into the existing screening program of screening new accessions for vaccine-preventable infections.ResultsThe prevalence of chronic HBV infection at accession was 2.3/1,000 (95% CI: 1.4, 3.2); most cases (16/21, 76%) identified after deployment were present at accession. There were 110 military service-related HBV infections identified. Screening accessions who are identified as HBV susceptible with HBV surface antigen followed by HBV surface antigen neutralization for confirmation offered no cost advantage over not screening and resulted in a net annual increase in cost of $5.78 million. However, screening would exclude as many as 514 HBV cases each year from accession.ConclusionsScreening for HBV infection at service entry would potentially reduce chronic HBV infection in the force, decrease the threat of transfusion-transmitted HBV infection in the battlefield blood supply, and lead to earlier diagnosis and linkage to care; however, applicant screening is not cost saving. Service-related incident infections indicate a durable threat, the need for improved laboratory-based surveillance tools, and mandate review of immunization policy and practice.
Geometrical interpretation of the pilot wave theory and manifestation of spinor fields
Authors: Trukhanova Mariya Iv. , Shipov Gennady 
Published: July 2020

Abstract
Using the hydrodynamical formalism of quantum mechanics for a Schrödinger spinning particle developed by Takabayashi, Vigier, and followers, which involves vortical flows, we propose a new geometrical interpretation of the pilot wave theory. The spinor wave in this interpretation represents an objectively real field, and the evolution of a material particle controlled by the wave is a manifestation of the geometry of space. We assume this field to have a geometrical nature, basing on the idea that the intrinsic angular momentum, the spin, modifies the geometry of the space, which becomes a manifold, represented as a vector bundle with a base formed by the translational coordinates and time, and the fiber of the bundle, specified at each point by the field of a tetrad $e^a_{\mu}$, forms from bilinear combinations of the spinor wave function. It has been shown that the spin vector rotates following the geodesic of the space with torsion, and the particle moves according to the geometrized guidance equation. This fact explains the self-action of the spinning particle. We show that the curvature and torsion of the spin vector line is determined by the space torsion of the absolute parallelism geometry.
Blood pressure management in hypertensive patients with syncope: how to balance hypotensive and cardiovascular risk
Authors: Rivasi Giulia , Brignole Michele , Rafanelli Martina , Bilo Grzegorz , Pengo Martino F. , Ungar Andrea , Parati Gianfranco 
Published: July 2020

Managing hypertension in syncope patients requires the accurate balancing of hypotensive and cardiovascular risks. On the basis of the available literature, this study analyses the complex inter-relationship between these clinical problems and presents an algorithm strategy to guide hypertension management in patients affected by syncope episodes. A SBP target of 120 mmHg is recommended in patients with a low syncope risk and a high cardiovascular risk. In patients with a high syncope risk and a low cardiovascular risk, and in older (70+) frail individuals, a less intensive treatment is advisable, targeting SBP of 140 mmHg. SBP values up to 160 mmHg can be tolerated in severe frailty or disability.
Patients with hypertension and syncope may benefit from team-based care by a ‘Blood Pressure Team’ including experts on hypertension and syncope and a geriatrician. The team should carry out a multidimensional assessment to balance syncope and cardiovascular risk and develop therapeutic strategies customized to individuals’ frailty and functional status.
Acanthamoeba Keratitis in Minors With Orthokeratology (OK) Lens Use: A Case Series
Authors: Scanzera Angelica C. , Tu Elmer Y. , Joslin Charlotte E. 
Published: July 2020

Objectives:
Myopia progression is a significant public health issue. Methods to halt myopia progression in minors continue to gain momentum. Orthokeratology, with market penetrance estimates approximating 1%, is a corneal reshaping therapy and potential myopia progression treatment. Our objective was to explore whether orthokeratology may increase the frequency of Acanthamoeba keratitis compared with other lens modalities.

Methods:
Individuals less than 18 years diagnosed with Acanthamoeba keratitis (AK) at the University of Illinois at Chicago (UIC) Cornea Service between January 1st, 2003, and December 31st, 2016, were retrospectively reviewed. Subjects were grouped by lens modality (soft, rigid gas permeable [RGP], and orthokeratology), and all cases with orthokeratology lens use were reviewed. The primary outcome was a history of orthokeratology lens use in minors diagnosed with AK.

Results:
Forty-seven contact lens users less than 18 years were diagnosed with AK. The mean age was 15.0 years (range 12–17), 26 (55%) were women, and 4 (8.5%) had bilateral disease. Lens modality included 6 (13%) with orthokeratology, 39 (83%) with soft contact lenses, 0 with nonorthokeratology RGP (0%), and 2 (4%) unknown.

Conclusions:
The proportion of orthokeratology cases among AK minors (13%) in our case series exceeds the expected proportion of orthokeratology cases expected based on orthokeratology market penetrance (1%). Results from this case series suggest a potential increased risk of AK in orthokeratology users compared with other lens modalities. In the context of the current myopia epidemic and concerns for halting myopia progression in minors, caution should be exercised when selecting appropriate treatment options to minimize the risk of AK.
Image quality and diagnostic accuracy of a handheld nonmydriatic fundus camera: Feasibility of a telemedical approach in screening retinal diseases
Authors: Lin Tai-Chi , Chiang Yueh-Hua , Hsu Chih-Lu , Liao Long-Sheng , Chen Yi-Ying , Chen Shih-Jen 
Published: July 2020

Background:
A suitable fundus camera for telemedicine screening can expand the scale of eye care service. The purpose of this study was to compare a handheld nonmydriatic digital fundus camera and a conventional mydriatic fundus camera according to the image quality of their photographs and usability of those photographs to accurately diagnose various retinal diseases.

Methods:
A handheld nonmydriatic fundus camera and conventional fundus camera were used to take fundus photographs of outpatients at an ophthalmic clinic before and after pupillary dilation. Image quality and diagnostic agreement of the photos were graded by two masked and experienced retinal specialists.

Results:
A total of 867 photographs of 393 eyes of 200 patients were collected. Approximately 80% of photos taken under nonmydriasis status using the handheld nonmydriatic fundus camera had good (55.7%) or excellent (22.7%) image quality. The overall agreement of diagnoses between the doctors was more than 90%. When the handheld nonmydriatic fundus camera was used after mydriasis, the proportion of images with good (45%) or excellent (49.7%) quality reached 94.7% and diagnostic agreement was 93.4%. Lens opacity was associated with the quality of images obtained using the handheld camera (p = 0.041), and diagnosis disagreement for handheld camera images was associated with preexisting diabetes diagnosis (p = 0.009). Approximately 40% of patients expressed preference for use of the handheld nonmydriatic camera.

Conclusion:
This study demonstrated the effectiveness of the handheld nonmydriatic fundus camera in clinical practice and its feasibility for telemedicine screening of retinal diseases.
Type II toxin/antitoxin system genes expression in persister cells of Klebsiella pneumoniae
Authors: Narimisa Negar , Kalani Behrooz S. , Amraei Fatemeh , Mohammadzadeh Rokhsareh , Mirkalantari Shiva , Razavi Shabnam , Jazi Faramarz M. 
Published: July 2020

Objective:
Persistence is a subpopulation of bacteria that can tolerate high doses of antibiotics by undergoing a period of dormancy. This study aimed to investigate the hypothetical role of toxin/antitoxin systems in persister cell formation of Klebsiella pneumoniae ATCC 13883 by evaluating toxins of type II toxin/antitoxin systems expression.

Methods:
To determine the number of surviving cells, bacterial colonies were counted at 1, 3, 5, 7, and 24 h after treated with a lethal dose of kanamycin. The role of toxin/antitoxin systems in persister cell formation was then determined by toxins of type II toxin/antitoxin systems (relE1, relE2, hipA, vapC, and doc) expression levels using real-time PCR.

Results:
Our results showed the viability of persister cells after 5 h. The results of relative real-time PCR showed higher levels of toxin gene expression due to stress conditions, suggesting the possible role of toxin/antitoxin systems in persister cell formation and antibiotic tolerance.

Conclusion:
Considering the importance of persistence and the tolerance to antibiotics, further studies on persister cell formation and related genes such as the toxin/antitoxin system genes might help us to identify the precise mechanisms leading to persister cell formation.