bluuebunny/crossref_metadata_2025_split huggingface dataset:
‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
Authors: Fermo Elisa , Bogdanova Anna , Petkova-Kirova Polina , Zaninoni Anna , Marcello Anna Paola , Makhro Asya , Hänggi Pascal , Hertz Laura , Danielczok Jens , Vercellati Cristina , Mirra Nadia , Zanella Alberto , Cortelezzi Agostino , Barcellini Wilma , Kaestner Lars , Bianchi Paola 
Published: May 2017

AbstractThe Gardos channel is a Ca2+ sensitive, K+ selective channel present in several tissues including RBCs, where it is involved in cell volume regulation. Recently, mutations at two different aminoacid residues in KCNN4 have been reported in patients with hereditary xerocytosis. We identified by whole exome sequencing a new family with two members affected by chronic hemolytic anemia carrying mutation R352H in the KCNN4 gene. No additional mutations in genes encoding for RBCs cytoskeletal, membrane or channel proteins were detected. We performed functional studies on patients’ RBCs to evaluate the effects of R352H mutation on the cellular properties and eventually on the clinical phenotype. Gardos channel hyperactivation was demonstrated in circulating erythrocytes and erythroblasts differentiated ex-vivo from peripheral CD34+ cells. Pathological alterations in the function of multiple ion transport systems were observed, suggesting the presence of compensatory effects ultimately preventing cellular dehydration in patient’s RBCs; moreover, flow cytometry and confocal fluorescence live-cell imaging showed Ca2+ overload in the RBCs of both patients and hypersensitivity of Ca2+ uptake by RBCs to swelling. Altogether these findings suggest that the ‘Gardos channelopathy’ is a complex pathology, to some extent different from the common hereditary xerocytosis.
Rapid, Self-driven Liquid Mixing on Open-Surface Microfluidic Platforms
Authors: Morrissette Jared M. , Mahapatra Pallab Sinha , Ghosh Aritra , Ganguly Ranjan , Megaridis Constantine M. 
Published: May 2017

AbstractSelf-driven surface micromixers (SDSM) relying on patterned-wettability technology provide an elegant solution for low-cost, point-of-care (POC) devices and lab-on-a-chip (LOC) applications. We present a SDSM fabricated by strategically patterning three wettable wedge-shaped tracks onto a non-wettable, flat surface. This SDSM operates by harnessing the wettability contrast and the geometry of the patterns to promote mixing of small liquid volumes (µL droplets) through a combination of coalescence and Laplace pressure-driven flow. Liquid droplets dispensed on two juxtaposed branches are transported to a coalescence station, where they merge after the accumulated volumes exceed a threshold. Further mixing occurs during capillary-driven, advective transport of the combined liquid over the third wettable track. Planar, non-wettable “islands” of different shapes are also laid on this third track to alter the flow in such a way that mixing is augmented. Several SDSM designs, each with a unique combination of island shapes and positions, are tested, providing a greater understanding of the different mixing regimes on these surfaces. The study offers design insights for developing low-cost surface microfluidic mixing devices on open substrates.
New quaternary half-metallic ferromagnets with large Curie temperatures
Authors: Kundu Ashis , Ghosh Srikrishna , Banerjee Rudra , Ghosh Subhradip , Sanyal Biplab 
Published: May 2017

AbstractNew magnetic materials with high Curie temperatures for spintronic applications are perpetually sought for. In this paper, we present an ab initio study of the structural, electronic and magnetic properties of Quaternary Heusler compounds CoX′Y′Si where X′ is a transition metal with 4d electrons and Y′ is either Fe or Mn. We find five new half-metallic ferromagnets with spin polarisation nearly 100% with very high Curie temperatures. The variation of Curie temperatures as a function of valence electrons can be understood from the calculated inter-atomic exchange interaction parameters. We also identify a few other compounds, which could be potential half-metals with suitable application of pressure or with controlled doping. Our results reveal that the half-metallicity in these compounds is intricately related to the arrangements of the magnetic atoms in the Heusler lattice and hence, the interatomic exchange interactions between the moments. The trends in the atomic arrangements, total and local magnetic moments, interatomic magnetic exchange interactions and Curie temperatures are discussed with fundamental insights.
Selection of reference genes for microRNA analysis associated to early stress response to handling and confinement in Salmo salar
Authors: Zavala Eduardo , Reyes Daniela , Deerenberg Robert , Vidal Rodrigo 
Published: May 2017

AbstractMicroRNAs are key non-coding RNA molecules that play a relevant role in the regulation of gene expression through translational repression and/or transcript cleavage during normal development and physiological adaptation processes like stress. Quantitative reverse transcription polymerase chain reaction (RT-qPCR) has become the approach normally used to determine the levels of microRNAs. However, this approach needs the use of endogenous reference. An improper selection of endogenous references can result in confusing interpretation of data. The aim of this study was to identify and validate appropriate endogenous reference miRNA genes for normalizing RT-qPCR survey of miRNAs expression in four different tissues of Atlantic salmon, under handling and confinement stress conditions associated to early or primary stress response. Nine candidate reference normalizers, including microRNAs and nuclear genes, normally used in vertebrate microRNA expression studies were selected from literature, validated by RT-qPCR and analyzed by the algorithms geNorm and NormFinder. The results revealed that the ssa-miR-99-5p gene was the most stable overall and that ssa-miR-99-5p and ssa-miR-23a-5p genes were the best combination. Moreover, the suitability of ssa-miR-99-5p and ssa-miR-23a-5p as endogeneuos reference genes was demostrated by the expression analysis of ssa-miR-193-5p gene.
rMFilter: acceleration of long read-based structure variation calling by chimeric read filtering
Authors: Liu Bo , Jiang Tao , Yiu S M , Li Junyi , Wang Yadong 
Published: May 2017

Abstract

Motivation
Long read sequencing technologies provide new opportunities to investigate genome structural variations (SVs) more accurately. However, the state-of-the-art SV calling pipelines are computational intensive and the applications of long reads are restricted.

Results
We propose a local region match-based filter (rMFilter) to efficiently nail down chimeric noisy long reads based on short token matches within local genomic regions. rMFilter is able to substantially accelerate long read-based SV calling pipelines without loss of effectiveness. It can be easily integrated into current long read-based pipelines to facilitate SV studies.

Availability and implementation
The C ++ source code of rMFilter is available at https://github.com/hitbc/rMFilter.

Supplementary information
Supplementary data are available at Bioinformatics online.
Pseudo-marginal Metropolis–Hastings sampling using averages of unbiased estimators
Authors: Sherlock Chris , Thiery Alexandre H. , Lee Anthony 
Published: May 2017

SummaryWe consider a pseudo-marginal Metropolis–Hastings kernel ${\mathbb{P}}_m$ that is constructed using an average of $m$ exchangeable random variables, and an analogous kernel ${\mathbb{P}}_s$ that averages $s<m$ of these same random variables. Using an embedding technique to facilitate comparisons, we provide a lower bound for the asymptotic variance of any ergodic average associated with ${\mathbb{P}}_m$ in terms of the asymptotic variance of the corresponding ergodic average associated with ${\mathbb{P}}_s$. We show that the bound is tight and disprove a conjecture that when the random variables to be averaged are independent, the asymptotic variance under ${\mathbb{P}}_m$ is never less than $s/m$ times the variance under ${\mathbb{P}}_s$. The conjecture does, however, hold for continuous-time Markov chains. These results imply that if the computational cost of the algorithm is proportional to $m$, it is often better to set $m=1$. We provide intuition as to why these findings differ so markedly from recent results for pseudo-marginal kernels employing particle filter approximations. Our results are exemplified through two simulation studies; in the first the computational cost is effectively proportional to $m$ and in the second there is a considerable start-up cost at each iteration.
Psychological Distress Among Smokers in the United States: 2008–2014
Authors: Zvolensky Michael J , Jardin Charles , Wall Melanie M , Gbedemah Misato , Hasin Deborah , Shankman Stewart A , Gallagher Matthew W , Bakhshaie Jafar , Goodwin Renee D 
Published: May 2017

Abstract

Introduction
Decline in smoking in the United States has slowed over the past 25 years. Mental health problems are common among smokers, and may be an impediment to quitting and remaining abstinent. The study investigated the relationship between serious (past-30-day) psychological distress (SPD) and smoking, estimated trends in the prevalence of SPD among current, former, and never smokers in the United States from 2008 to 2014, and investigated whether heterogeneity in these trends varied by sociodemographic characteristics.

Methods
Data were drawn from the National Household Survey on Drug Use (NSDUH), an annual cross-sectional study of persons ages 12 and over (N = 270 227). SPD and smoking in the past 30 days were examined using logistic regression models among adults 18 and older. The prevalence of SPD was examined annually among current, former, and never smokers from 2008 to 2014.

Results
SPD increased among smokers in the United States from 2008 to 2014. An increase in SPD was more rapid among non-daily smokers than daily smokers. The prevalence of SPD was higher among younger smokers, those with less formal education and lower annual family income and higher among current smokers than former and never smokers. The relationships between SPD and smoking were stronger among smokers with higher education levels and annual family income.

Conclusions
Our findings suggest an increase in SPD among smokers over time and that as smoking has declined, those with SPD are comprising a greater proportion of the remaining smokers. Results suggest that mental health must be integrated into mainstream tobacco control efforts.

Implications
The greater prevalence and increasing rate of Serious Psychological Distress among smokers, relative to former- and never-smokers, from 2008 to 2014 provides support that the greater mental health burden among smokers may be contributing to the slowed reduction in smoking prevalence in the United States. In addition, relationships between SPD and smoking were consistently stronger among smokers with higher levels of education and annual family income. Such results suggest the necessity of incorporating mental health treatments in tobacco use reduction efforts.
Sensitivity of the DN4 in Screening for Neuropathic Pain Syndromes
Authors: VanDenKerkhof Elizabeth G. , Stitt Larry , Clark Alexander J. , Gordon Allan , Lynch Mary , Morley-Forster Patricia K. , Nathan Howard J. , Smyth Catherine , Toth Cory , Ware Mark A. , Moulin Dwight E. 
Published: May 2017

Objectives:Several tools have been developed to screen for neuropathic pain. This study examined the sensitivity of the Douleur Neuropathique en 4 Questions (DN4) in screening for various neuropathic pain syndromes.Materials and Methods:This prospective observational study was conducted in 7 Canadian academic pain centers between April 2008 and December 2011. All newly admitted patients (n=2199) were approached and 789 eligible participants form the sample for this analysis. Baseline data included demographics, disability, health-related quality of life, and pain characteristics. Diagnosis of probable or definite neuropathic pain was on the basis of history, neurological examination, and ancillary diagnostic tests.Results:The mean age of study participants was 53.5 years and 54.7% were female; 83% (n=652/789) screened positive on the DN4 (≥4/10). The sensitivity was highest for central neuropathic pain (92.5%, n=74/80) and generalized polyneuropathies (92.1%, n=139/151), and lowest for trigeminal neuralgia (69.2%, n=36/52). After controlling for confounders, the sensitivity of the DN4 remained significantly higher for individuals with generalized polyneuropathies (odds ratio [OR]=4.35; 95% confidence interval [CI]: 2.15, 8.81), central neuropathic pain (OR=3.76; 95% CI: 1.56, 9.07), and multifocal polyneuropathies (OR=1.72; 95% CI: 1.03, 2.85) compared with focal neuropathies.Discussion:The DN4 performed well; however, sensitivity varied by syndrome and the lowest sensitivity was found for trigeminal neuralgia. A positive DN4 was associated with greater pain catastrophizing, disability and anxiety/depression, which may be because of disease severity, and/or these scales may reflect magnification of sensory symptoms and findings. Future research should examine how the DN4 could be refined to improve its sensitivity for specific neuropathic pain conditions.
Improving the Efficiency of Speech-In-Noise Hearing Screening Tests
Authors: Smits Cas 
Published: May 2017

Objective:
Speech-in-noise hearing screening tests have become increasingly popular. These tests follow an adaptive procedure with a fixed number of presentations to estimate the speech reception threshold. The speech reception threshold is compared with an established cutoff signal to noise ratio (SNR) for a pass result or refer result. A fixed SNR procedure was developed to improve the efficiency of speech-in-noise hearing screening tests.

Design:
The cutoff SNR is used for all presentations in the fixed-SNR procedure. After each response a reliable test result is given (pass/refer) or an extra stimulus is presented. The efficiency and pass/refer rates between the adaptive procedure and the fixed-SNR procedure were compared.

Results:
An average reduction of 67% in the number of presentations can be achieved (from 25 to an average of 8.3 presentations per test).

Conclusions:
The fixed-SNR procedure is superior in efficiency to the adaptive procedure while having nearly equal refer and pass rates.
Trochanteric Entry for Femoral Lengthening Nails in Children: Is It Safe?
Authors: Hammouda Ahmed I. , Jauregui Julio J. , Gesheff Martin G. , Standard Shawn C. , Herzenberg John E. 
Published: May 2017

Background:
Antegrade intramedullary (IM) nailing for skeletally immature femur fractures can damage the capital femoral epiphysis blood supply, leading to avascular necrosis (AVN) of the femoral head. Reported AVN rates are 2% for piriformis entry and 1.4% for trochanteric entry. None of previous reports described IM lengthening nails for limb lengthening procedures. We have used self-lengthening telescopic nails with a proximal Herzog bend and standard trochanteric entry for femoral lengthening in children. The purpose of this study is to determine whether trochanteric entry IM lengthening nails can be used safely (no AVN or proximal femoral deformity) in the skeletally immature femur.

Methods:
A retrospective review was performed between 2004 and 2014 to determine all skeletally immature patients younger than 18 years of age who had a reamed IM lengthening nail inserted through the greater trochanter, with at least 1-year follow-up.

Results:
Thirty-one femurs were lengthened in 28 patients (17 males and 11 females). The etiology was congenital femoral deficiency (10), achondroplasia (6), post-traumatic (5), hemihypertrophy (3), Ollier disease (2), and miscellaneous (5). An attending surgeon was present for all procedures. Mean age at time of surgery was 12.9 years (range, 7 to 17 y). Mean follow-up was 3.5 years (range, 1.4 to 9 y). The average amount of lengthening was 5.4 cm (range, 3 to 6.7 cm). Twenty-four nails were 10.7 mm in diameter. Seven nails were 12.5 mm in diameter. Intramedullary skeletal kinetic distractor was used in 18 femurs and PRECICE in 13 femurs. Ten segments (7 intramedullary skeletal kinetic distractor; 3 PRECICE) experienced 13 complications. None of the patients developed AVN or proximal femoral deformity.

Conclusions:
IM lengthening nails inserted through the greater trochanter may be utilized in skeletally immature patients without increased risk of AVN of the femoral head or proximal femoral deformity. Larger trials would be helpful to confirm our hypothesis. We recommend careful surgical technique with liberal use of the image intensifier to avoid trauma to the femoral head blood supply.

Level of Evidence:
Level IV—therapeutic.
Clonal Seborrheic Keratosis Versus Pagetoid Bowen Disease: Histopathology and Role of Adjunctive Markers
Authors: Kalegowda Inchara Yeliur , Böer-Auer Almut 
Published: May 2017

Abstract:
Clonal seborrheic keratosis (CSK) and pagetoid Bowen disease (squamous cell carcinoma in situ) (PBD) share similar histological features making it sometimes difficult to differentiate the 2. The study group included 29 and 13 cases of CSK and PBD, respectively. Both groups were examined histopathologically (suprabasal mitotic figures, broad rete ridges, crowding of nuclei, nuclear pleomorphism, necrotic keratinocytes, parakeratosis, and dermal inflammation) and immunohistochemically (CK10, Ki-67, and p16). P values for all parameters were calculated using Fisher exact test, 2 tailed. Significant differences were seen regarding mitosis, crowding, nuclear pleomorphism (more common in PBD), and broad rete ridges (more common in CSK). Significant differences were also noted with Ki-67, CK10, and p16 antibodies. Increased Ki-67-positive cells and the presence of >75% positive p16 cells were commonly seen in PBD, whereas CK10-negative cells were a common finding in CSK. A spectrum of staining patterns was observed with CK10 and p16. There is no single reliable criterion to distinguish CSK from PBD. A panel of markers comprising CK10, Ki-67, and p16 seems to be useful in the context of relevant histology.
Terra Firma-Forme Dermatosis Misdiagnosed as Nevoid Acanthosis Nigricans
Authors: Demirci Gulsen Tukenmez , Mansur Ayse Tulin , Demiralay Ebru 
Published: May 2017

Abstract:
Terra firma-forme dermatosis (TFFD) is a clinical condition characterized by brown–gray, velvety, pigmented patches or plaques, resembling dirt on the skin. Nevoid acanthosis nigricans (NAN) is a rare and recently described form of acanthosis nigricans occurring during childhood or early adulthood. Herein we describe a patient with TFFD, initially misdiagnosed as NAN. The patient had developed hyperkeratotic and hyperpigmented plaques on and around the umbilicus during pregnancy. Though regular in bathing practices, she could not clear away the lesions and concerned marks for inesthetic appearance. Histopathological findings were compatible with NAN, and she was prescribed 10% urea lotion. On a dramatic healing after 3 weeks, a diagnosis of TFFD is considered and confirmed by the lesions getting wiped away by vigorous rubbing with alcohol pads. We discuss the key points of differentiating TFFD from NAN, and underline the importance of alcohol test for accurate diagnosis.
Hailey–Hailey Disease With Coexistent Herpes Virus Infection: Insights Into the Diagnostic Conundrum of Herpetic/Pseudoherpetic Features in Cutaneous Acantholytic Disorders
Authors: Leitch Claire S. , Panthagani Anusha P. , Tidman Michael J. , Biswas Asok 
Published: May 2017

Abstract:The specific histopathologic diagnosis of a primary acantholytic disorder takes into account the distribution and extent of acantholysis, presence or absence of dyskeratosis, nature of the dermal inflammatory cell infiltrate, and immunofluorescence findings. Herpes virus infection is a common cause of secondary acantholysis where distinctive viral cytopathic changes aid in making it a clear-cut diagnosis in majority of cases. We present a case of coexistence of Hailey–Hailey disease and herpes simplex virus infection to compare and contrast their histopathologic features. This is imperative because acantholytic cells from primary acantholytic disorders may occasionally show cytological features traditionally associated with herpes virus infection (pseudoherpetic changes). The objective of this article is to create a greater awareness of pseudoherpetic changes and also to explore the clinical significance of coexistence of a primary acantholytic disorder and herpes virus infection, as in this case.
Air Pump–Assisted Graft Centration, Graft Edge Unfolding, and Graft Uncreasing in Young Donor Graft Pre-Descemet Endothelial Keratoplasty
Authors: Jacob Soosan , Narasimhan Smita , Agarwal Amar , Agarwal Athiya , A.I. Saijimol 
Published: May 2017

Purpose:
To assess an air pump–assisted technique for graft centration, graft edge unfolding, and graft uncreasing while performing pre-Descemet endothelial keratoplasty (PDEK) using young donor grafts.

Methods:
Continuous pressurized air infusion was used for graft centration, graft edge unfolding, and graft unwrinkling.

Results:
Ten eyes of 10 patients underwent PDEK with donors aged below 40 years. In all eyes, the donor scrolled into tight scrolls. In all cases, the air pump–assisted technique was effective in positioning and centering the graft accurately and in straightening infolded graft edges and smoothing out graft creases and wrinkles. Endothelial cell loss was 38.6%. Postoperative best-corrected visual acuity at 6 months was 0.66 ± 0.25 in decimal equivalent. Continuous pressurized air infusion acted as a third hand providing a continuous pressure head that supported the graft and prevented graft dislocation as well as anterior chamber collapse during intraocular maneuvering. Adequate maneuvering space was available in all cases, and bleeding, if any, was tamponaded successfully in all cases.

Conclusions:
Although very young donor grafts may be used for PDEK, they are difficult to center and unroll completely before floating against host stroma. An air pump–assisted technique using continuous pressurized air infusion allows successful final graft positioning even with very young donor corneas. It thus makes surgery easier as several key steps are made easier to handle. It additionally helps in tamponading hemorrhage during peripheral iridectomy, increasing surgical space, preventing fluctuations in the anterior chamber depth, and promoting graft adherence.