bluuebunny/crossref_metadata_2025_split huggingface dataset:
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease
Authors: Ahmad F. , Oyen F. , Jan R. , Budde U. , Schneppenheim R. , Saxena R. 
Published: April 2014

SummaryLinkage analysis in autosomal inherited von Willebrand disease (VWD) is important to diagnose the carriers and reduce the burden of severe type VWD. The study was designed to identify the carriers and estimate the frequency of variable number of tandem repeats (VNTR) instability in VWD families. Carrier detection was performed in eight recessive type 3 VWD (VWD3) families using VNTRs VWF1 and VWF2, RsaI (789Thr/Ala) linkage markers, multimer analysis and DNA sequencing. Moreover, five dominant VWD families were studied through DNA sequencing and multimer analysis. Frequency of VWF VNTR instability was investigated in 20 VWD families. In VWD3 families, a total of 22 (81.5%) carriers were identified using VWF1 and VWF2 markers. However, only 13(48.1%) carriers were identified through RsaI markers. Mutation screening revealed 22(81.5%) carriers in VWD3 and 4 (33.3%) carriers in VWD2 families. In comparison to DNA sequencing, the accuracy of VWF1 and VWF2 markers in VWD3 was 85.7% while RsaI could identify 68.2% carriers accurately. Mutations p.R1205H and p.C1272R were identified as de novo in families. Multimer analysis confirmed the identified carriers in VWD2 families. Three VWD families were found to be carrying VNTR instability for VWF1 and VWF2 locus. VNTRs could be an effective linkage markers for carrier detection in VWD3 families. However, in the event of germline de novo mutations and VNTR instability, it may confound risk of misdiagnosis of carriers. Multimer analysis could be an alternative way of carrier detection in dominant type 2A and type 2B VWD families.
A minimally painful, comfortable, and safe technique for hemodialysis catheter placement in children: Superficial cervical plexus block
Authors: Çiftci Taner , Daskaya Hayrettin , Yıldırım Mehmet B. , Söylemez Haluk 
Published: April 2014

AbstractThe superficial cervical plexus block (SCPB) is utilized in pediatric patients to perform certain surgical procedures, but there is no evidence supporting its use in hemodialysis catheter placement. We evaluated the analgesic effectiveness, intraoperative complications, and patient satisfaction associated with SCPB for pediatric patients in renal failure undergoing emergent dialysis catheterization. A total of 52 patients ranging from 1 to 17 years old that required emergent dialysis catheter placement and received SCPB were included in this study. During the catheterization, intraoperative pain scores, requirement for additional analgesia, catheterization access site, and intraoperative complications were recorded. The Children's Hospital of Eastern Ontario Pain Scale (mCHEOPS) was used to determine pain ratings during skin puncture with the needle, skin dilatation, and securing the catheter with stitches. The patients had an average age of 8.46 ± 5.3 years. The preferred catheterization entry site was through right internal jugular vein, which was achieved in 80.7% of patients. However, 19.3% of patients required access through the right subclavian vein. The average mCHEOPS score during skin puncture was 1.4 ± 0.5, and the mean mCHEOPS score was 2.3 ± 0.6 for skin dilatation. Finally, the average mCHEOPS score while securing the catheter with stitches was 1.3 ± 0.4. No patient required fentanyl for additional analgesia. No intraoperative complications occurred. The benefits gained from using SCPB performed by an experienced anesthesiologist for hemodialysis catheter placement include providing sufficient analgesia and optimal surgical conditions while avoiding the complications associated with general anesthesia for pediatric patients with renal failure.
Pulsatile exposure to simulated reflux leads to changes in gene expression in a 3D model of oesophageal mucosa
Authors: Green Nicola H. , Nicholls Zoe , Heath Paul R. , Cooper‐Knock Jonathan , Corfe Bernard M. , MacNeil Sheila , Bury Jonathan P. 
Published: April 2014

SummaryOesophageal exposure to duodenogastroesophageal refluxate is implicated in the development of Barrett's metaplasia (BM), with increased risk of progression to oesophageal adenocarcinoma. The literature proposes that reflux exposure activates NF‐κB, driving the aberrant expression of intestine‐specific caudal‐related homeobox (CDX) genes. However, early events in the pathogenesis of BM from normal epithelium are poorly understood. To investigate this, our study subjected a 3D model of the normal human oesophageal mucosa to repeated, pulsatile exposure to specific bile components and examined changes in gene expression. Initial 2D experiments with a range of bile salts observed that taurochenodeoxycholate (TCDC) impacted upon NF‐κB activation without causing cell death. Informed by this, the 3D oesophageal model was repeatedly exposed to TCDC in the presence and absence of acid, and the epithelial cells underwent gene expression profiling. We identified ~300 differentially expressed genes following each treatment, with a large and significant overlap between treatments. Enrichment analysis (Broad GSEA, DAVID and Metacore™; GeneGo Inc) identified multiple gene sets related to cell signalling, inflammation, proliferation, differentiation and cell adhesion. Specifically NF‐κB activation, Wnt signalling, cell adhesion and targets for the transcription factors PTF1A and HNF4α were highlighted. Our data suggest that HNF4α isoform switching may be an early event in Barrett's pathogenesis. CDX1/2 targets were, however, not enriched, suggesting that although CDX1/2 activation reportedly plays a role in BM development, it may not be an initial event. Our findings highlight new areas for investigation in the earliest stages of BM pathogenesis of oesophageal diseases and new potential therapeutic targets.
Through Thickness Mechanical Properties of Chemical Vapor Infiltration and Nano‐Infiltration and Transient Eutectic‐Phase Processed SiC/SiC Composites
Authors: Shih Chunghao , Katoh Yutai , Ozawa Kazumi , Lara‐Curzio Edgar , Snead Lance 
Published: April 2014

The through thickness (interlaminar) shear strength and trans‐thickness tensile strength of three different nuclear‐grade SiC/SiC composites were evaluated at room temperature by the double‐notched shear and diametral compression tests, respectively. With increasing densification of the interlaminar matrix region, a transition in failure locations from interlayer to intrafiber bundle was observed, along with significant increases in the value of the interlaminar shear strength. Under trans‐thickness tensile loading, cracks were found to propagate easily in the unidirectional composite. The 2D woven composite had a higher trans‐thickness tensile strength (38 MPa) because the failure mode involved debonding, fiber pull‐out and fiber failure.
A de novo transcriptome of European pollen beetle populations and its analysis, with special reference to insecticide action and resistance
Authors: Zimmer C. T. , Maiwald F. , Schorn C. , Bass C. , Ott M.‐C. , Nauen R. 
Published: April 2014

AbstractThe pollen beetle Meligethes aeneus is the most important coleopteran pest in European oilseed rape cultivation, annually infesting millions of hectares and responsible for substantial yield losses if not kept under economic damage thresholds. This species is primarily controlled with insecticides but has recently developed high levels of resistance to the pyrethroid class. The aim of the present study was to provide a transcriptomic resource to investigate mechanisms of resistance. cDNA was sequenced on both Roche (Indianapolis, IN, USA) and Illumina (LGC Genomics, Berlin, Germany) platforms, resulting in a total of ∼53 m reads which assembled into 43 396 expressed sequence tags (ESTs). Manual annotation revealed good coverage of genes encoding insecticide target sites and detoxification enzymes. A total of 77 nonredundant cytochrome P450 genes were identified. Mapping of Illumina RNAseq sequences (from susceptible and pyrethroid‐resistant strains) against the reference transcriptome identified a cytochrome P450 (CYP6BQ23) as highly overexpressed in pyrethroid resistance strains. Single‐nucleotide polymorphism analysis confirmed the presence of a target‐site resistance mutation (L1014F) in the voltage‐gated sodium channel of one resistant strain. Our results provide new insights into the important genes associated with pyrethroid resistance in M. aeneus. Furthermore, a comprehensive EST resource is provided for future studies on insecticide modes of action and resistance mechanisms in pollen beetle.
Spinal cord stimulation to achieve wound healing in a primary lower limb critical ischaemia referral centre
Authors: De Caridi Giovanni , Massara Mafalda , David Antonio , Giardina Massimiliano , La Spada Michele , Stilo Francesco , Spinelli Francesco , Grande Raffaele , Butrico Lucia , de Franciscis Stefano , Serra Raffaele 
Published: April 2014

AbstractCritical lower limb ischaemia is a diffuse pathology that could cause claudication, severe ischaemic pain and tissue loss. The common treatment includes modification of risk factors, pharmacological therapy and endovascular or surgical revascularisation of the lower limb to restore a pulsatile flow distally. Spinal cord stimulator is seen as a valid alternative in patients unsuitable for revascularisation after endovascular or surgical revascularisation failure and as adjuvant therapy in the presence of a functioning bypass in patients with extensive tissue loss and gangrene presenting a slow and difficult wound healing. We report our experience on spinal cord stimulation (SCS) indication and implantation in patients with critical lower limb ischaemia, at a high‐volume centre for the treatment of peripheral arterial disease.
Inching Toward Accountability: The Evolution of Brazil's Anticorruption Institutions, 1985–2010
Authors: Praça Sérgio , Taylor Matthew M. 
Published: April 2014

AbstractThis article analyzes the evolution of the network of Brazilian federal accountability institutions over the course of the past generation, between the transition to democracy and the end of President Luiz Inácio Lula da Silva’s second term. Substantively, the article charts the significant gains that have been made in accountability institutions. Theoretically, it evaluates the evolution of these institutions as a consequence of the distribution of rules, routines, roles, and resources across a larger institutional network, demonstrating that changes in the various bureaucratic agencies have mutually reinforced each other and generated autocatalytic processes of reform.
Adrenomedullin increases the short‐circuit current in the rat prostate: Receptors, chloride channels, the effects of cAMP and calcium ions and implications on fluid secretion
Authors: Liao S. B. , Cheung K. H. , Cheung M. P. L. , Wong P. F. , O W. S. , Tang F. 
Published: April 2014

SummaryIn this study, we have investigated the effects of adrenomedullin on chloride and fluid secretion in the rat prostate. The presence of adrenomedullin (ADM) in rat prostate was confirmed using immunostaining, and the molecular species was determined using gel filtration chromatography coupled with an enzyme‐linked assay for ADM. The effects of ADM on fluid secretion were studied by short‐circuit current technique in a whole mount preparation of the prostate in an Ussing chamber. The results indicated that the ADM level was higher in the ventral than the dorso‐lateral prostate and the major molecular species was the active peptide. ADM increased the short‐circuit current through both the cAMP‐ and calcium‐activated chloride channels in the ventral lobe, but only through the calcium‐activated channels in the dorso‐lateral lobe. These stimulatory effects were blocked by the calcitonin gene‐related peptide (CGRP) receptor antagonist, hCGRP8‐37. We conclude that ADM may regulate prostatic fluid secretion through the chloride channels, which may affect the composition of the seminal plasma bathing the spermatozoa and hence fertility.
White matter microstructural changes in psychogenic erectile dysfunction patients
Authors: Zhang P. , Liu J. , Li G. , Pan J. , Li Z. , Liu Q. , Qin W. , Dong M. , Sun J. , Huang X. , Wu T. , Chang D. 
Published: April 2014

SummaryBrain dysfunction in erectile dysfunction (ED) has been identified by multiple neuroimaging studies. A recent MRI study indicated grey matter alterations in ED patients. This study aims to investigate the microstructural changes of cerebral white matter (WM) in psychological ED patients and their possible correlations with clinical variables. Twenty‐seven psychological ED patients and 27 healthy subjects (HS) were included and underwent a magnetic resonance (MR) diffusion tensor imaging (DTI) scan. The tract‐based spatial statistics were employed to identify the WM structure alterations in psychological ED patients. The multiple DTI‐derived indices′ [fractional anisotropy (FA), axial diffusivity (AD) and mean diffusivity (MD)] correlations with the symptoms and their durations, respectively, were analysed. The IIEF‐5, quality of erection questionnaire (QEQ) and the self‐esteem and relationship (SEAR) questionnaire were used to assess the symptoms of psychological ED patients. Compared with HS, the psychological ED patients showed increased FA values, reduced MD values and reduced AD values in multiple WM tracts including the corpus callosum (genu, body and splenium), corticospinal tract, internal capsule, corona radiata, external capsule and superior longitudinal fasciculus (p < 0.05, threshold‐free cluster enhancement corrected). Both of the IIEF scores and QEQ scores of ED patients showed a significantly negative correlation with the average FA values, and positive correlation with average AD values and MD values in the splenium of the corpus callosum (p < 0.05). The results provided preliminary evidence of WM microstructural changes in patients with psychological ED. The morphological alterations in the splenium of the corpus callosum were related to the symptom severity.
Protamine mRNA ratio in stallion spermatozoa correlates with mare fecundity
Authors: Paradowska‐Dogan A. , Fernandez A. , Bergmann M. , Kretzer K. , Mallidis C. , Vieweg M. , Waliszewski P. , Zitzmann M. , Weidner W. , Steger K. , Kliesch S. 
Published: April 2014

SummaryHighly compacted sperm DNA in protamine toroids and a minor fraction of nucleohistones are prerequisites for the efficient transmission of the paternal genome into the oocyte at fertilization. The objective of this study was to evaluate whether protamines might serve as a prognostic factor for stallion fertility. In situ hybridization detected specific expression of P1mRNAin the cytoplasm of stage I to VII spermatids, whereas comparable immunohistochemical stainings showed that protein expression was delayed till elongating spermatids in differentiation stages III to VIII. No staining was detectable in cryptorchid testis because of the lack of spermatids in the seminiferous tubules. Using quantitative real‐time polymerase chain reaction, we identifiedmRNAtranscripts of P1 and 2 variants of protamine‐ 2 (P2, P3) in ejaculated spermatozoa from 45 thoroughbred stallions. According to the mare fertility descriptor (i.e. the ‘none‐return‐rate 28 percentage’ or NRR28%), stallions were divided into three groups (i.e. high, reduced and low fertility). The P2/P1mRNAratio was found to be significantly reduced in the group with lower fertility (p = 0.016) and was slightly correlated with sperm concentration (correlation coefficientr = 0.263). Furthermore, morphologically abnormal sperm count negatively correlated with P2/P1mRNAratio, indicating that spermatozoa carrying head defects display a diminished protamine ratio (r = −0.348). Conversely, the P2/P1 ratio was positively correlated with mare fertility or NRR28% (r = 0.274). Interestingly, P3/P1mRNAratio remained unaltered in the investigated groups indicating that this variant plays a minor role in equine sperm chromatin compaction. Aberrant protamine transcripts content in equine spermatozoa was not associated with DNA defragmentation rate as measured by flow cytometric acridine orange test. On the basis of these results, we suggest that, similar to human, equine protamine expression constitutes a checkpoint of spermatogenesis and as a corollary the level of protaminemRNAmay reflect the quality of spermatogenesis and spermatozoa's fertilizing capacity.
Visit‐to‐Visit Variability of Blood Pressure and Renal Function Decline in Patients With Diabetic Chronic Kidney Disease
Authors: Yokota Kei , Fukuda Masamichi , Matsui Yoshio , Kario Kazuomi , Kimura Kenjiro 
Published: April 2014

The authors previously reported that the visit‐to‐visit variability of blood pressure is correlated with renal function decline in nondiabetic chronic kidney disease. Little is known about the association between visit‐to‐visit variability and renal function decline in patients with diabetic chronic kidney disease. The authors retrospectively studied 69 patients with diabetic chronic kidney disease stage 3a, 3b, or 4. The standard deviation and coefficient of variation of blood pressure in 12 consecutive visits were defined as visit‐to‐visit variability of blood pressure. The median observation period was 32 months. In univariate correlation, the standard deviation and coefficient of variation of blood pressure were not significantly associated with the slope of estimated glomerular filtration rate. There was no significant association between the visit‐to‐visit variability of blood pressure and renal function decline in patients with diabetic chronic kidney disease, in contrast with our previous study of nondiabetic patients with chronic kidney disease.
Proteasome inhibitors – molecular basis and current perspectives in multiple myeloma
Authors: Kubiczkova Lenka , Pour Ludek , Sedlarikova Lenka , Hajek Roman , Sevcikova Sabina 
Published: April 2014

AbstractInhibition of proteasome, a proteolytic complex responsible for the degradation of ubiquitinated proteins, has emerged as a powerful strategy for treatment of multiple myeloma (MM), a plasma cell malignancy. First‐in‐class agent, bortezomib, has demonstrated great positive therapeutic efficacy in MM, both in pre‐clinical and in clinical studies. However, despite its high efficiency, a large proportion of patients do not achieve sufficient clinical response. Therefore, the development of a second‐generation of proteasome inhibitors (PIs) with improved pharmacological properties was needed. Recently, several of these new agents have been introduced into clinics including carfilzomib, marizomib and ixazomib. Further, new orally administered second‐generation PI oprozomib is being investigated. This review provides an overview of main mechanisms of action of PIs in MM, focusing on the ongoing development and progress of novel anti‐proteasome therapeutics.
Does the dimension of the graft influence patient morbidity and root coverage outcomes? A randomized controlled clinical trial
Authors: Zucchelli Giovanni , Mounssif Ilham , Mazzotti Claudio , Montebugnoli Lucio , Sangiorgi Matteo , Mele Monica , Stefanini Martina 
Published: April 2014

AbstractAimPrimary aim of this study was to evaluate if patient morbidity was improved by diminishing graft thickness and height; secondary objective was to evaluate if such graft modifications influence root coverage and aesthetic outcomes.Methods60 Miller class I and II gingival recessions (GR) (≥3 mm in depth) were treated with the coronally advanced flap plus extraoral de‐epithelialized free gingival graft (FGG). In 30 randomly selected control GRs (“big graft group”), the FGG thickness was ≥2 mm and the height was equal to bone dehiscence (BD); in the other 30 test defects (“small graft group”), the thickness of the FGG was <2 mm and the height was 4 mm. The post‐operative patient morbidity was assessed 1 week after the surgery. The clinical and aesthetic evaluations were performed 1 year after the surgery.ResultsLower analgesic assumption, better post‐operative course evaluations, better patient colour match scores and better periodontist aesthetic assessments were reported in the “small graft” group. No statistically significant differences were demonstrated between the two groups in terms of recession reduction, CRC and increase in KTH. Greater GT increase was obtained in the control‐treated sites.ConclusionsCoronally advanced flap plus CTG of reduced thickness and height was associated with less patient morbidity, better aesthetic evaluations with no difference in RC outcomes.
An RCT comparing patient‐centred outcome variables of guided surgery (bone or mucosa supported) with conventional implant placement
Authors: Vercruyssen Marjolein , De Laat Antoon , Coucke Wim , Quirynen Marc 
Published: April 2014

AbstractAimTo assess in a randomized study the patient‐centred outcome of two guided surgery systems (mucosa or bone supported) compared to conventional implant placement, in fully edentulous patients.Material and MethodsFifty‐nine patients (72 jaws) with edentulous maxillas and/ or mandibles, were consecutively recruited and randomly assigned to one of the treatment groups. Outcome measures were the Dutch version of the McGill Pain Questionnaire (MPQ‐DLV), the Health‐related quality of life instrument (HRQOL), visual analogue scales (VAS), the duration of the procedure, and the analgesic doses taken each day.ResultsThree hundred and fourteen implants were placed successfully. No statistical differences could be shown between treatment groups on pain response (MPQ‐DLV), treatment perception (VAS) or number or kind of pain killers. For the HRQOLI‐instrument, a significant difference was found between the Materialise Mucosa and Materialise Bone group at day 1 (p = 0.02) and day 2 (p = 0.01). For the duration of the surgery, a statistical difference (p = 0.005) was found between the Materialise mucosa and the Mental group, in favour of the first.ConclusionIn this study little difference could be found in the patient outcome variables of the different treatment groups. However there was a tendency for patients treated with conventional flapped implant placement to experience the pain for a longer period of time.
Periodontal infection, impaired fasting glucose and impaired glucose tolerance: results from the Continuous National Health and Nutrition Examination Survey 2009–2010
Authors: Arora Nidhi , Papapanou Panos N. , Rosenbaum Michael , Jacobs David R. , Desvarieux Moïse , Demmer Ryan T. 
Published: April 2014

AbstractAimWe investigated the relationship between periodontal disease, a clinical manifestation of periodontal infection, and pre‐diabetes.MethodsThe National Health and Nutrition Examination Survey, 2009–2010 enrolled 1165 diabetes‐free adults (51% female) aged 30–80 years (mean ± SD=50 ± 14) who received a full‐mouth periodontal examination and an oral glucose tolerance test. Participants were classified as having none/mild, moderate or severe periodontitis and also according to mean probing depth ≥2.19 mm or attachment loss ≥1.78 mm, (respective 75th percentiles). Pre‐diabetes was defined according to ADA criteria as either: (i) impaired fasting glucose (IFG) or impaired glucose tolerance (IGT). In multivariable logistic regression models, the odds of IFG and IGT were regressed on levels of periodontitis category.ResultsThe odds ratios and 95% confidence intervals for having IGT among participants with moderate or severe periodontitis, relative to participants with none/mild periodontitis were 1.07 [0.50, 2.25] and 1.93 [1.18, 3.17], p = 0.02. The ORs for having IFG were 1.14 [0.74, 1.77] and 1.12 [0.58, 2.18], p = 0.84. PD ≥75th percentile was related to a 105% increase in the odds of IGT: OR [95% CI] = 2.05 [1.24, 3.39], p = 0.005.ConclusionsPeriodontal infection was positively associated with prevalent impaired glucose tolerance in a cross‐sectional study among a nationally representative sample.