bluuebunny/crossref_metadata_2025_split huggingface dataset:
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY
Authors: Boulanger-Scemama Elise , Sahel Jose-Alain , Mohand-Said Saddek , Antonio Aline , Condroyer Christel , Zeitz Christina , Audo Isabelle 
Published: January 2018

Purpose:
Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum.

Methods:
Report of five patients with an initial diagnosis of atypical rod–cone dystrophy, for whom autosomal dominant vitreoretinochoroidopathy was retrospectively diagnosed on genetic results using targeted next-generation sequencing. Each patient had a comprehensive ophthalmic examination including multimodal retinal imaging and functional evaluation.

Results:
Visual acuity ranged from <20/800 to 20/25. Two patients had narrowed angle with history of acute angle-closure glaucoma for one patient. Full-field electroretinogram showed severe reduction of both scotopic and photopic responses for 3/5 patients. Electrooculogram could be performed for one of the two patients with moderate alterations of full-field electroretinogram. It revealed severe light rise abnormalities with decreased Arden ratio (125% right eye, 145% left eye) in keeping with generalized severe dysfunction of the retinal pigment epithelium. On fundoscopy, the pathognomonic circumferential hyperpigmented band of the peripheral retina was totally absent in two patients.

Conclusion:
This report highlights the high phenotypic variability of autosomal dominant vitreoretinochoroidopathy, which may be misdiagnosed, especially in advanced forms with severe generalized photoreceptor dysfunction mimicking retinitis pigmentosa. Targeted next-generation sequencing can contribute to the proper clinical diagnosis, especially in case of atypical phenotypic features of autosomal dominant vitreoretinochoroidopathy.
Autologous Fat Graft for the Treatment of Sighted Posttraumatic Enophthalmos and Sunken Upper Eyelid
Authors: Chen Hui , Zhang Qian , Qiu Qiu , Yang Zhenglin 
Published: January 2018

Purpose:
The treatment of enophthalmos and sunken upper eyelid is challenging. Although autologous fat graft has been widely used in breast augmentation, buttock contouring, and facial rejuvenation, its application in enophthalmos and sunken upper eyelid is not yet widely utilized. The clinical safety and value of autologous fat graft in sighted patients with enophthalmos and sunken upper eyelid are unclear. This study retrospectively analyzed the cosmetic results and safety of autologous fat graft in the correction of sighted traumatic enophthalmos and sunken upper eyelid.

Methods:
Autologous fat graft was performed in 9 patients with posttraumatic enophthalmos and sunken upper eyelid. The visual acuity, orbital swelling, eye movement, enophthalmos, and sunken upper eyelid were observed.

Results:
Eight to 24 months after autologous fat graft, enophthalmos and sunken upper eyelid in 9 patients improved significantly. Although orbital swelling occurred in the early postoperative period, no vision loss, eye movement limitation, or fat embolism had occurred.

Conclusion:
Autologous fat graft is an effective, predictable, scarless, and minimally invasive surgery for the correction of the sighted posttraumatic enophthalmos and sunken upper eyelid. The possible risk of fat embolization and blindness from the compression of the optic nerve should not be neglected. Further studies and more cases must be performed.
Deep Orbital Sub-Q Hyaluronic Acid Filler Injection for Enophthalmic Sighted Eyes in Parry–Romberg Syndrome
Authors: Feldman Ilan , Sheptulin Vladimir A. , Grusha Yaroslav O. , Malhotra Raman 
Published: January 2018

Purpose:
The authors present a consecutive series of deep orbital Sub-Q injections to treat enophthalmic sighted eyes in Parry–Romberg syndrome patients.

Methods:
Retrospective, interventional case series in 2 centers. Data were collected on patient demographics, Parry–Romberg syndrome onset age, previous orbital and eyelid surgeries, diplopia, ocular movement restriction before and after the injection, number of injections, interval between injections, indication for any top-up or dissolution of filler, and any other complications. In all cases, the hyaluronic acid gel used was Restylane Sub-Q + Lidocaine.

Results:
A total of 8 injections on 3 patients with Parry–Romberg syndrome, and significant enophthalmos is reported. All injections were with deep orbital Sub-Q filler. All patients were females, aged 32, 24, and 52 years old while their symptoms started at 15, 16, and 30 years old, respectively. None had orbital surgery prior to the injection. Follow up period was 2, 7, and 5 years respectively. All presented a significant enophthalmos of 4 mm which reduced to 1 mm after the injection, and duration effect was 18, 24, and 20 months, respectively. We observed a significant improvement in enophthalmos, lagophthalmos, exposure keratopathy, and even ocular motility. Lagophthalmos improved from 1, 4, and 7 mm to 0, 1, and 2 mm post injection. Ocular motility improved with no onset of new limitation or diplopia. Lower eyelid retraction increased in 1 patient after orbital injection. No other complications occurred.

Conclusions:
Deep orbital Sub-Q hyaluronic injection for treatment of enophthalmos in Parry–Romberg syndrome is an useful option in sighted eyes.
Smartwatch feedback device for high-quality chest compressions by a single rescuer during infant cardiac arrest: a randomized, controlled simulation study
Authors: Lee Juncheol , Song Yeongtak , Oh Jaehoon , Chee Youngjoon , Ahn Chiwon , Shin Hyungoo , Kang Hyunggoo , Lim Tae Ho 
Published: January 2018

Objective
According to the guidelines, rescuers should provide chest compressions (CC) ~1.5 inches (40 mm) for infants. Feedback devices could help rescuers perform CC with adequate rates (CCR) and depths (CCD). However, there is no CC feedback device for infant cardiopulmonary resuscitation (CPR). We suggest a smartwatch-based CC feedback application for infant CPR.

Participants and methods
We created a smartwatch-based CC feedback application. This application provides feedback on CCD and CCR by colour and text for infant CPR. To evaluate the application, 30 participants were divided randomly into two groups on the basis of whether CC was performed with or without the assistance of the smartwatch application. Both groups performed continuous CC-only CPR for 2 min on an infant mannequin placed on a firm table. We collected CC parameters from the mannequin, including the proportion of correct depth, CCR, CCD and the proportion of correct decompression depth.

Results
Demographics between the two groups were not significantly different. The median (interquartile range) proportion of correct depth was 99 (97–100) with feedback compared with 83 (58–97) without feedback (P = 0.002). The CCR and proportion of correct decompression depth were not significantly different between the two groups (P = 0.482 and 0.089). The CCD of the feedback group was significantly deeper than that of the control group [feedback vs. control: 41.2 (39.8–41.7) mm vs. 38.6 (36.1–39.6) mm; P=0.004].

Conclusion
Rescuers who receive feedback of CC parameters from a smartwatch could perform adequate CC during infant CPR.
Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa
Authors: Smyth Natalie , Ramsay Michèle , Raal Frederick J. 
Published: January 2018

Purpose of review
To describe the prevalence and population-specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Recent findings
This review highlights the paucity of data on familial hypercholesterolemia in South Africa, and the urgent need to uncover the mutation profiles in lipid-associated genes, causing an increase in LDL-cholesterol in the different ethnic groups. Case reports and small studies have shown that familial hypercholesterolemia, although apparently uncommon, is present in black Africans.

Summary
Local founder effects have led to an increased prevalence of familial hypercholesterolemia in several South African populations: Afrikaner founder mutations (c.681 C>G, c.1285 G>A, c.523 G>A), Ashkenazi founder mutation (c.654_656del) and possible Indian founder mutation (c.2054 C>T). Preliminary data in black Africans with elevated LDL-cholesterol identified a possible common mutation, c.137_142del. The South African multiethnic society and well described founder effects emphasize the need for differential approaches to diagnosis and management of familial hypercholesterolemia. Studies involving larger cohorts and inclusive of different ethnicities are paramount to establishing an accurate prevalence of familial hypercholesterolemia in black Africans, not only in South Africa but in the Sub-Saharan African region. It is clear that the estimated world prevalence of one in 250 cannot be generally applied across African populations.
Regression of atherosclerosis: lessons learned from genetically modified mouse models
Authors: Burke Amy C. , Huff Murray W. 
Published: January 2018

Purpose of review
Regression, or reversal, of atherosclerosis has become an important clinical objective. The development of consistent models of murine atherosclerosis regression has accelerated this field of research. The purpose of this review is to highlight recent mouse studies that reveal molecular mechanisms as well as therapeutics targeted for regression.

Recent findings
Atherosclerosis regression does not involve the same mechanisms as progression in reverse order. Distinct molecular processes within the plaque characterize regression. These processes remained elusive until the advent of murine regression models including aortic transplant, the Reversa mouse, gene complementation and dietary intervention. Studies revealed that depletion of plaque macrophages is a quintessential characteristic of regression, driven by reduced monocyte recruitment into plaques, increased egress of macrophages from plaques and reduced macrophage proliferation. In addition, regression results in polarization of remaining plaque macrophages towards an anti-inflammatory phenotype, smaller necrotic cores and promotion of an organized fibrous cap. Furthermore, type 1 diabetes hinders plaque regression, and several therapeutic interventions show promise in slowing plaque progression or inducing regression.

Summary
Mouse models of atherosclerosis regression have accelerated our understanding of the molecular mechanisms governing lesion resolution. These insights will be valuable in identifying therapeutic targets aimed at atherosclerosis regression.
Health Literacy, Health Disparities, and Sources of Health Information in U.S. Older Adults
Authors: Cutilli Carolyn Crane , Simko Lynn C. , Colbert Alison M. , Bennett Ian M. 
Published: January 2018

BACKGROUND:
Low health literacy in older adults has been associated with poor health outcomes (i.e., mortality, decreased physical and cognitive functioning, and less preventive care utilization). Many factors associated with low health literacy are also associated with health disparities. Interaction with healthcare providers and sources of health information are influenced by an individual's health literacy and can impact health outcomes.

PURPOSE:
This study examined the relationships between health literacy, sources of health information, and demographic/background characteristics in older adults (aged 65 years and older) related to health literacy and disparities.

METHODS:
This descriptive, correlational study is a secondary analysis of the 2003 National Assessment of Adult Literacy, a large-scale national assessment.

RESULTS:
Older adults with lower health literacy have less income and education, rate their health as poor or fair, have visual or auditory difficulties, need help filling out forms, reading newspaper, or writing notes, and use each source of health information less (print and nonprint). Many of these characteristics and skills are predictive of health literacy and associated with health disparities.

CONCLUSION:
The results expand our knowledge of characteristics associated with health literacy and sources of health information used by older adults. Interventions to improve health outcomes including health disparities can focus on recognizing and meeting the health literacy demands of older adults.
The Influence of Presurgical Factors on the Rehabilitation Outcome of Patients Following Hip Arthroplasty
Authors: Simões João Lindo , Soares Soraia , Sa-Couto Pedro , Lopes Carla , Magina Daniela , Melo Elsa , Voegeli David , Bolhão Isabel 
Published: January 2018

Abstract

Purpose
The aims of this study were to evaluate the relationship between sociodemographic information, anthropometric values, clinical and presurgery factors, and length of stay (LOS) in older adult patients undergoing total hip arthroplasty (THA) and to predict which factors can delay the start of the rehabilitation program and increase the corresponding LOS.

Methods
A prospective cohort study was conducted in an orthopedic inpatient unit with 40 patients undergoing THA.

Findings
The Morse Fall Scale scores and pain intensity scores delayed the commencement of the rehabilitation program. Gender and social support were important determinants of LOS and rehabilitation outcome following THA. The weight of the lower limb without osteoarthritis followed by pain intensity and overweight patients also influenced LOS.

Conclusions/Clinical Relevance
Functional outcomes after THA are variable, and the rehabilitation process is an important factor to regain their normal level of physical functioning. This factor can have an impact in the discharge of patients, in resource allocation and in health care of older adult patients.
Concomitant Transcranial Direct Current Stimulation With Ultrabrief Electroconvulsive Therapy
Authors: Mayur Prashanth , Howari Rasha , Byth Karen , Vannitamby Rameswaran 
Published: January 2018

Objective
The feasibility and effectiveness of concomitant use of transcranial direct current stimulation (tDCS) with electroconvulsive therapy (ECT) has not been investigated. The study principally aimed at determining whether tDCS when combined with ECT improved the speed of antidepressant response. Secondarily, the ease of generation of seizures during electroconvulsive therapy and cognitive outcomes were investigated.

Methods
Consecutive patients referred for ECT to treat major depression were randomized to tDCS with dorsolateral prefrontal electrode placements (n = 8) or sham (n = 8) used daily and just before thrice weekly, 6 times threshold, right unilateral ultrabrief (0.3 ms) pulse width ECT. Change of depression severity was determined using the Montgomery Asberg Depression Rating Scale along with cognitive assessments using Montreal Cognitive Assessment and visual memory testing at weeks 1 and 2, which were compared with baseline.

Results
Change of depression severity from baseline was similar in tDCS and ECT compared with sham tDCS and ECT at week1 (mean [standard deviation {SD}] = 16.00 [6.78]; 13.75 [7.83]; P = 0.89) and at week 2 (mean [SD] = 23.00 [4.96]; 19.75 [9.85], P = 0.08). No between-group differences were obtained in the cognitive tests at weeks 1 and 2. Combining tDCS with ECT resulted in higher restimulation: 62.5% requiring 3 stimulations to achieve threshold in contrast to 12.5% with sham tDCS and ECT (P = 0.04). The mean suprathreshold dose was higher in the tDCS and ECT group compared with sham tDCS and ECT: mean [SD] = 144.0 [43.54] and mean [SD] = 122.4 [20.36], P = 0.04, respectively.

Conclusions
Concomitant use of tDCS with ultrabrief right unilateral ECT is feasible and safe albeit with higher rates of restimulation when tDCS was combined with ECT. However, there were no statistically significant differences in the speed of antidepressant response or cognitive outcomes at weeks 1 and 2 after the commencement of treatments.
Analysis of human immunoglobulin VDJ and DJ rearrangements shows N region synthesis by concatenation of cytosine-rich strands preferentially originating from trimmed germline gene segments
Authors: Funck Tina , Barnkob Mike Bogetofte , Holm Nanna , Ohm-Laursen Line , Mehlum Camilla Slot , Möller Sören , Barington Torben 
Published: January 2018

AbstractThe formation of non-templated (N) regions during immunoglobulin gene rearrangement is a major contributor to antibody diversity. To gain insights into the mechanisms behind this, we studied the nucleotide composition of N regions within 29,962 unique human VHDJH-rearrangements and 8,728 unique human DJH-rearrangements containing exactly one identifiable D-gene segment and thus two N regions, N1 and N2. We found a distinct decreasing content of cytosine (C) and increasing content of guanine (G) across each N region, suggesting that N regions are typically generated by concatenation of two 3’-overhangs synthesized by addition of nucleoside triphosphates with a preference for dCTP. This challenges the general assumption that the terminal deoxynucleotidyl transferase favors dGTPin vivo. Furthermore, we found that the G and C gradients depended strongly on whether the germline gene segments were trimmed or not. Our data show that C-enriched N addition preferentially happens at trimmed 3’-ends of VH-, D-, and JH-gene segments indicating a dependency of the transferase mechanism upon the nuclease mechanism.
Decoding digits and dice with Magnetoencephalography: Evidence for a shared representation of magnitude
Authors: Teichmann A. Lina , Grootswagers Tijl , Carlson Thomas , Rich Anina N. 
Published: January 2018

AbstractNumerical format describes the way magnitude is conveyed, for example as a digit (‘3’) or Roman Numeral (‘III’). In the field of numerical cognition, there is an ongoing debate of whether magnitude representation is independent of numerical format. Here, we examine the time course of magnitude processing when using different symbolic formats. We presented participants with a series of digits and dice patterns corresponding to the magnitudes of 1 to 6 while performing a 1-back task on magnitude. Magnetoencephalography (MEG) offers an opportunity to record brain activity with high temporal resolution. Multivariate Pattern Analysis (MVPA) applied to MEG data allows us to draw conclusions about brain activation patterns underlying information processing over time. The results show that we can crossdecode magnitude when training the classifier on magnitude presented in one symbolic format and testing the classifier on the other symbolic format. This suggests similar representation of these numerical symbols. Additionally, results from a time-generalisation analysis show that digits were accessed slightly earlier than dice, demonstrating temporal asynchronies in their shared representation of magnitude. Together, our methods allow a distinction between format-specific signals and format-independent representations of magnitude showing evidence that there is a shared representation of magnitude accessed via different symbols.
2-APB arrests human keratinocyte proliferation and inhibits cutaneous squamous cell carcinomain vitro
Authors: Nelson Aislyn M. , Moayedi Yalda , Greenberg Sophie A. , Ruiz Marlon E. , Jensen Uffe B. , Owens David M. , Lumpkin Ellen A. 
Published: January 2018

AbstractBackgroundThe epidermis is a stratified epithelium whose differentiation program is triggered in part by calcium. Dysregulation of keratinocyte differentiation may lead to non-melanoma skin cancers, including cutaneous squamous cell carcinoma (cSCC). The compound 2-aminoethoxydiphenyl borate (2-APB) modulates calcium signaling by altering activity of calcium-permeable channels of the transient receptor potential (TRP) and ORAI families, and is therefore poised to govern signaling pathways that control the balance of keratinocyte proliferation and differentiation.ObjectiveWe sought to determine whether 2-APB alters differentiation of normal human keratinocytes and progression of human cSCCs modelsin vitro.MethodsPrimary human keratinocyte cultures were treated with 2-APB and levels of proliferation (EdU incorporation) and differentiation markers [quantitative PCR (qPCR)] were assessed. Human cSCC biopsies and cell lines were analyzed for TRP and ORAI gene expression via qPCR. cSCC cell lines were cultured in organtypic cultures and analyzed for growth and invasiveness after 2-APB or vehicle treatment.ResultsCulturing human keratinocytes with 2-APB arrested cell proliferation, triggered differentiation-gene expression and altered epidermal stratification, indicating that 2-APB application is sufficient to promote differentiation. In human organotypic cSCC cultures, 2-APB attenuated tumor growth and invasiveness. Finally, expression of a panel of 2-APB-targeted ion channels (TRPV3, TRPV1, TRPC1, OraI1, OraI2 and OraI3) was dysregulated in high-risk cSCC biopsies.ConclusionsCollectively, these findings identify 2-APB as a potential therapeutic for high-risk cSCCs.
Transcriptomic analysis with the progress of symbiosis in ‘crack-entry’ legumeArachis hypogaeahighlights its contrast with ‘infection thread’ adapted legumes
Authors: Karmakar Kanchan , Kundu Anindya , Rizvi Ahsan Z , Dubois Emeric , Severac Dany , Czernic Pierre , Cartieaux Fabienne , DasGupta Maitrayee 
Published: January 2018

ABSTRACTIn root-nodule symbiosis, rhizobial invasion and nodule organogenesis is host controlled. In most legumes, rhizobia enter through infection-threads and nodule primordium in the cortex is induced from a distance. But in dalbergoid legumes like Arachis hypogaea, rhizobia directly invade cortical cells through epidermal cracks to generate the primordia. Herein we report the transcriptional dynamics with the progress of symbiosis in A. hypogaea at 1dpi: invasion; 4dpi: nodule primordia; 8dpi: spread of infection in nodule-like structure; 12dpi: immature nodules containing rod-shaped rhizobia; and 21dpi: mature nodules with spherical symbiosomes. Expression of putative orthologue of symbiotic genes in ‘crack-entry’ legume A. hypogaea was compared with infection thread adapted model legumes. The contrasting features were (i) higher expression of receptors like LYR3, EPR3 as compared to canonical NFRs (ii) late induction of transcription factors like NIN, NSP2 and constitutive high expression of ERF1, EIN2, bHLH476 and (iii) induction of divergent pathogenesis responsive PR-1 genes. Additionally, symbiotic orthologues of SymCRK, FLOT4, ROP6, RR9, NOOT and SEN1 were not detectable and microsynteny analysis indicated the absence of RPG and DNF2 homologues in diploid parental genomes of A. hypogaea. The implications are discussed and a molecular framework that guide ‘crack-entry’ symbiosis in A. hypogaea is proposed.