bluuebunny/crossref_metadata_2025 huggingface dataset:
Immune cells: plastic players along colorectal cancer progression
Authors: Di Caro Giuseppe , Marchesi Federica , Laghi Luigi , Grizzi Fabio
Published: January 2014

Inflammatory cells are involved in tumour initiation and progression. In parallel, the adaptive immune response plays a key role in fighting tumour growth and dissemination. The double‐edged role of the immune system in solid tumours is well represented in colorectal cancer (CRC). The development and progression of CRC are affected by the interactions between the tumour and the host's response, occurring in a milieu named tumour microenvironment. The role of immune cells in human CRC is being unravelled and there is a strong interest in understanding their dynamics as to tumour promotion, immunosurveillance and immunoevasion. A better definition of immune infiltration would be important not only with respect to the ‘natural history’ of CRC, but in a clinically relevant perspective in the 21st century, with respect to its post‐surgical management, including chemotherapy responsiveness. While it is becoming established that the amount of tumour‐infiltrating lymphocytes influences the post‐surgical progression of early‐stage CRC, the relevance of this immune parameter as to chemotherapy responsiveness remains to be clarified. Despite recent experimental work supporting the notion that infiltrating immune cells may influence chemotherapy‐mediated tumour cell death, tumour‐infiltrating cells are not employed to identify patients who are more likely to benefit from adjuvant treatment. This review focuses on studies addressing the role of innate and adaptive immune cells along the occurrence and the progression of potentially curable CRC.
Singularity and medicine: is there a place for heteronomy in medical ethics?
Authors: Devisch Ignaas , Vanheule Stijn
Published: January 2014

Rationale, aims and objectives

In medicine and in clinical practice, autonomy is opposed to heteronomy or paternalism. While autonomy comes down to free choice, independence or self‐fulfillment, heteronomy or paternalism are associated with restraints from outside, lack of free choice or dependence. Despite several mediating concepts such as relational autonomy, this opposition stands firm in medical discourse.

Methods and results

Reflecting upon his own heart transplantation but also falling back upon the whole of his oeuvre, we want to analyze what the impact of Nancy's thought can be on the concept of autonomy in medicine. As in Nancy's theory, autonomy and heteronomy are intertwined, how then to understand the autonomous individual in a clinical context?

Nancy developed in his book Corpus, the untranslatable French word ‘expeausition’ to express the exposure of surfaces to one another – playing on the term ‘exposition’: ‘peau’, in French, means skin. Skin is literally exposed to contact with another skin or surface. Such exposure and such contact is ‘world’ he argues, in the same way that a product exchange between two people is. Heteronomy therefore is constitutive for autonomy, not a restraint of it.

Conclusions

Analyzed from the work of French philosopher Jean‐Luc Nancy, there is no such thing as autonomy because every ‘self’ or ‘I’ is always already intruded by something from outside. There is no autonomy without heteronomy, he argues and he therefore prefers to speak of an individual as being exposed to the outer world.
A comparison of body composition measurement techniques
Authors: Hillier S. E. , Beck L. , Petropoulou A. , Clegg M. E.
Published: January 2014

Background

An understanding of the reproducibility of body composition measurements is essential for effective intervention studies. Air displacement plethysmography (ADP) and bioelectrical impedance (BIA) are two easy‐to‐use measures of body composition. The present study aimed to assess the reproducibility of ADP and BIA and compare them with each other, as well as with skinfold measurement.

Methods

Forty‐one participants were tested on two occasions following an overnight fast. On test day 1, participants' height, weight and % body fat (BF) were measured using ADP and BIA. Measurements were replicated to assess the within‐day reproducibility. On test day 2, participants were again tested using ADP and BIA and had skinfold measurements taken. Three skinfold equations for BF calculation were applied. Comparisons of within‐ and between‐day reproducibility and between measurement techniques were completed using Pearson correlations and Bland–Altman analysis.

Results

Both Pearson correlation and Bland–Altman analysis showed good within‐ and between‐day relationships and agreement for BF from ADP and BIA measurements. The two methods had a high correlation between them; however, the mean difference between the two was 3.1% (4.1%). From the skinfold equations used, the best agreement with ADP had a mean difference of 0.3% (0.8%) and, with BIA, had mean differences of 1.9% (4.2%).

Conclusions

The data indicate that ADP and BIA cannot be used interchangeably, although both measurements had good within‐ and between‐day agreement.
Experimental stroke: neurolysin back on stage
Authors: Checler Frédéric
Published: January 2014

Read the full article ‘Functional upregulation of endopeptidase neurolysin during post‐acute and early recovery phases of experimental stroke in mouse brain’ on doi: 10.1111/jnc.12513
Complications and Patient‐Centered Outcomes with an Implant‐Supported Monolithic Zirconia Fixed Dental Prosthesis: 1 Year Results
Authors: Limmer Bryan , Sanders Anne E. , Reside Glenn , Cooper Lyndon F.
Published: January 2014

Purpose

To characterize the number and type of complications that occur with a monolithic zirconia fixed dental prosthesis (MZ‐FDP) supported by four endosseous implants in the edentulous mandible over time and to quantify the impact of treatment on oral health quality of life (OHQoL).

Methods

Seventeen edentulous participants were enrolled. New conventional dentures were fabricated for each participant. Four Astra Tech Osseospeed TX implants (Dentsply) were then placed in the parasymphyseal mandible, and after a period of healing, a full‐arch monolithic zirconia prosthesis (Zirkonzahn) was inserted. Complication data were recorded and OHQoL was evaluated using the Oral Health Impact Profile (OHIP‐49), administered on four occasions: enrollment; implant surgery; and 6‐ and 12‐month recalls.

Results

Sixty‐eight implants were placed in 17 edentulous individuals aged 30 to 78 (mean 57.9 years). Implant survival was 94% from the subject perspective and 99% from the implant perspective. Prosthesis survival was 88%. Twelve complications occurred in ten participants, whereas seven participants remained complication free. Both OHIP‐49 severity and extent scores decreased significantly between enrollment and 12‐month recall (p < 0.001). The mean OHIP‐49 severity score at baseline was 94.8 (95% confidence interval [CI]: 73.9, 115.8) and declined an average of 76.8 (95% CI: –91.3, –62.3) units per participant. The mean OHIP‐49 extent score at baseline was 17.2 (95% CI: 10.8, 23.6) and declined 16.3 (95% CI: –20.2, –12.4) units per participant on average.

Conclusions

Implant survival was high, and few complications related to the MZ‐FDP were observed. The most common prosthetic complication was tooth chipping in the opposing maxillary denture, which accounted for 50% of all complication events. Substantial and clinically important improvements in OHQoL were achieved with both conventional dentures and the implant‐supported MZ‐FDP. The data of this short‐term study indicate that the implant‐supported MZ‐FDP is a therapeutic option with particular advantages in the edentulous mandible that warrants further long‐term study.
Rising incidence and prevalence of primary biliary cirrhosis: a large population‐based study
Authors: Boonstra Kirsten , Kunst Anton E. , Stadhouders Paul H. , Tuynman Hans A. , Poen Alexander C. , van Nieuwkerk Karin. M. J. , Witteman Ellen M. , Hamann Dörte , Witteman Ben J. , Beuers Ulrich , Ponsioen Cyriel Y. ,   the Epi PSC PBC study group
Published: January 2014

Background & Aims

Large population‐based studies are much needed to accurately establish the epidemiology of primary biliary cirrhosis (PBC). We aimed to collect all PBC patients in a geographically defined area to evaluate the epidemiology of PBC and examine the possible association of PBC with smoking, age at menarche, age at first pregnancy and number of pregnancies.

Methods

All PBC patients between 2000 and 2008 were identified in a geographically defined area of the Netherlands, comprising 50% of the Dutch population. Four independent hospital databases were searched in 44 hospitals. Medical records were reviewed on site verifying diagnosis and for collection of clinical data. Age‐ and gender matched controls were recruited from the outpatient clinics of four participating hospitals. Patients and controls were asked to fill out a questionnaire regarding family history, previous and current smoking behaviour and fertility status.

Results

Nine hundred and ninety‐two PBC patients fulfilled all inclusion criteria, resulting in a mean incidence of 1.1 per 100 000; 0.3 in men and 1.9 in women. On January 1st 2008 the point prevalence was 13.2 per 100 000 inhabitants. Incidence and prevalence rates were increasing over time (P < 0.001). No geographical differences in disease distribution were observed. Smoking behaviour, age at menarche, age at first pregnancy, gravidity and number of children were not significantly different between cases and controls.

Conclusion

Incidence and prevalence rates of PBC are increasing over time. PBC was not found to be associated with smoking, age at menarche, age at first pregnancy or number of pregnancies.
Host perception of jasmonates promotes infection by Fusarium oxysporum formae speciales that produce isoleucine‐ and leucine‐conjugated jasmonates
Authors: Cole Stephanie J. , Yoon Alexander J. , Faull Kym F. , Diener Andrew C.
Published: January 2014

Three pathogenic forms, or formae speciales (f. spp.), of Fusarium oxysporum infect the roots of Arabidopsis thaliana below ground, instigating symptoms of wilt disease in leaves above ground. In previous reports, Arabidopsis mutants that are deficient in the biosynthesis of abscisic acid or salicylic acid or insensitive to ethylene or jasmonates exhibited either more or less wilt disease, than the wild‐type, implicating the involvement of hormones in the normal host response to F. oxysporum. Our analysis of hormone‐related mutants finds no evidence that endogenous hormones contribute to infection in roots. Mutants that are deficient in abscisic acid and insensitive to ethylene show no less infection than the wild‐type, although they exhibit less disease. Whether a mutant that is insensitive to jasmonates affects infection depends on which forma specialis (f. sp.) is infecting the roots. Insensitivity to jasmonates suppresses infection by F. oxysporum f. sp. conglutinans and F. oxysporum f. sp. matthioli, which produce isoleucine‐ and leucine‐conjugated jasmonate (JA‐Ile/Leu), respectively, in culture filtrates, whereas insensitivity to jasmonates has no effect on infection by F. oxysporum f. sp. raphani, which produces no detectable JA‐Ile/Leu. Furthermore, insensitivity to jasmonates has no effect on wilt disease of tomato, and the tomato pathogen F. oxysporum f. sp. lycopersici produces no detectable jasmonates. Thus, some, but not all, F. oxysporum pathogens appear to utilize jasmonates as effectors, promoting infection in roots and/or the development of symptoms in shoots. Only when the infection of roots is promoted by jasmonates is wilt disease enhanced in a mutant deficient in salicylic acid biosynthesis.
Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: A single centre cohort analysis
Authors: Musetti Claudio , Quaglia Marco , Mellone Simona , Pagani Alessia , Fusco Ileana , Monzani Alice , Giordano Mara , Stratta Piero
Published: January 2014

Background

HNF1B gene mutations might be an underdiagnosed cause of nephropathy in adult patients mainly because of their pleomorphic clinical presentations. As most studies are based on paediatric populations, it is difficult to assess the likelihood of finding HNF1B mutations in adult patients and consequently define clinical settings in which genetic analysis is indicated. The aim of this study was the search for mutations in the HNF1B gene in a cohort of unrelated adult patients with nephropathy of unknown aetiology.

Methods

Patients were tested for the HNF1B gene if they had chronic kidney disease of unknown origin and renal structure abnormalities (RSA) or a positive family history of nephropathy. The HNF1B coding sequence and intron–exon boundaries were analysed by direct sequencing. The search for gene deletions was performed by Multiple Ligation Probe Analysis (MLPA).

Results

Heterozygous mutations were identified in 6 out of 67 screened patients (9.0%) and included two whole gene deletions, one nonsense (p.Gln136Stop), two missense (p.Gly76Cys and p.Ala314Thr) mutations and a frameshift microdeletion (c.384_390 delCATGCAG), the latter two (c.384_390 del and p.Ala314Thr) not ever being reported to date. Mean age of the mutated patients at screening was 48.5 years with a M/F ratio of 2/4. The clinical manifestations of affected patients were extremely pleomorphic, including several urological and extra‐renal manifestations.

Conclusions

Mutations of HNF1B could explain chronic kidney disease in up to 9% of adult patients with a nephropathy of unknown aetiology and RSA: therefore an HNF1B mutation analysis should be considered in this group of patients.
Effect of sulfa drugs on kidney function and renal scintigraphy
Authors: Mustafa Seham , Alsughayer Abdulhakeem , Elgazzar Abdelhamid , Elassar Abdelzaher , Al Sagheer Fakhria
Published: January 2014

Aim

The sulfonamide group is widely used for bacterial diseases including kidney and urinary tract infections. The present study investigates the effect of a sulfa drug on kidney function and renography studies by using a radionuclide.

Methods

Renography studies were performed on New Zealand white rabbits. Each rabbit was injected with 48.1 MBq technetium‐99m mercaptoacetyltriglycine (99mTc‐MAG‐3). Dynamic images were acquired using a gamma camera. Radioactivity time curves were generated from the regions of interest, time to peak activity (Tmax) and time from peak to 50% activity (T1/2). Each rabbit served as its own control. The sulfa drug was given to these rabbits for 7 days (i.v injection 130 mg/kg daily in two divided doses; i.e. the single dose is 65 mg/kg), then dynamic images were acquired.

Results

Treatment with sulfa shifted the experimental curves to the right of the control curves. This result showed that there was a delayed renal uptake of 99mTc‐MAG‐3 and its clearance. Calculated averages of Tmax were 2.2 ± 0.3 and 5.9 ± 0.5 min; while for T1/2 were 3.1 ± 0.3 and 8.4 ± 0.6 min for control and sulfa‐treated rabbits, respectively (n = 20; P < 0.05).

Conclusion

Our results indicate that sulfa drug induced pharmacokinetic changes because of delaying both the Tmax and T1/2. Sulfa drug has an effect on the reabsorption from the renal tubules and the excretion process of 99mTc‐MAG‐3 which is excreted almost exclusively by the renal tubules. Therefore, sulfa drug causes a deterioration in kidney function and an alteration on radionuclide renography.
Cephalometric assessment of craniofacial dysmorphologies in relation with Msx2 mutations in mouse
Authors: Simon Y. , Marchadier A. , Riviere M. K. , Vandamme K. , Koenig F. , Lezot F. , Trouve A. , Benhamou C. L. , Saffar J. L. , Berdal A. , Nefussi J. R.
Published: January 2014

Structured Abstract

Objectives

To determine the role of Msx2 in craniofacial morphology and growth, we used a mouse model and performed a quantitative morphological characterization of the Msx2 −/− and the Msx2 +/− phenotype using a 2D cephalometric analysis applied on micrographs.

Materials and Methods

Forty‐four three‐and‐a‐half‐month‐old female CD1 mice were divided into the following three groups: Msx2 +/+ (n = 16), Msx2 +/− (n = 16), and Msx2 −/− (n = 12). Profile radiographs were scanned. Modified cephalometric analysis was performed to compare the three groups.

Results

Compared with the wild‐type mice, the Msx2 −/− mutant mice presented an overall craniofacial size decrease and modifications of the shape of the different parts of the craniofacial skeleton, namely the neurocranium, the viscerocranium, the mandible, and the teeth. In particular, dysmorphologies were seen in the cochlear apparatus and the teeth (taurodontism, reduced incisor curvature). Finally contrary to previous published results, we were able to record a specific phenotype of the Msx2 +/− mice with this methodology. This Msx2 +/− mouse phenotype was not intermediate between the Msx2 −/− and the wild‐type animals.

Conclusion

Msx2 plays an important role in craniofacial morphogenesis and growth because almost all craniofacial structures were affected in the Msx2−/− mice including both intramembranous and endochondral bones, the cochlear apparatus, and the teeth. In addition, Msx2 haploinsufficiency involves a specific phenotype with subtle craniofacial structures modifications compared with human mutations.
Analysis of the association of COL2A1 and IGF‐1 with mandibular prognathism in a Chinese population
Authors: Xue F. , Rabie A. B. M. , Luo G.
Published: January 2014

Structured Abstract

Objective

In this study, we performed a case–control association analysis to determine whether the candidate genes COL2A1 and IGF‐1 are susceptibility genes for mandibular prognathism (MP).

Methods

Eleven and five single‐nucleotide polymorphisms (SNPs) located in COL2A1 and IGF‐1, respectively, were selected and genotyped in 211 cases and 224 controls. The individual SNPs and the relevant haplotypes were analyzed and tested for an association with MP, to identify genes potentially associated with MP.

Results

In the analysis of individual SNPs, the SNP rs1793953 in the COL2A1 gene showed a possible association with MP with regard to allelic frequency and genotypic distribution (p = 0.031; p = 0.025, respectively) in the 211 cases and 224 controls. The A allele of rs1793953 was associated with a significantly decreased risk of MP (OR: 0.74; 95% CI: 0.58–0.97). Linkage disequilibrium and haplotype analysis revealed that MP was not associated with haplotypes that included the rs1793953 alleles. IGF‐1 gene did not show the association with MP.

Conclusion

An association between polymorphism in the COL2A1 gene and MP was observed. The results suggested that the COL2A1 gene could be a new susceptibility gene for use in the study of genetic risk factors for MP.
Tommotiids from the early Cambrian (Series 2, Stage 3) of Morocco and the evolution of the tannuolinid scleritome and setigerous shell structures in stem group brachiopods
Authors: Skovsted Christian B. , Clausen Sébastien , Álvaro Javier J. , Ponlevé Deborah
Published: January 2014

An assemblage of tannuolinid sclerites is described from the Amouslek Formation (Souss Basin) of the Anti‐Atlas Mountains in Morocco. The assemblage contains two species, Tannuolina maroccana n. sp., which is represented by a small number of mitral and sellate sclerites, and Micrina sp., represented by a single mitral sclerite. Tannuolina maroccana differs from other species of the genus in the presence of both bilaterally symmetrical and strongly asymmetrical sellate sclerites. This observation suggests that the scleritome of Tannuolina was more complex than previously thought and that this tommotiid may have held a more basal position in the brachiopod stem group than previously assumed. The shell structure of both T. maroccana and Micrina sp. is well preserved and exhibits two fundamentally different sets of tubular structures, only one of which was likely to contain shell‐penetrating setae. Based on these observations, the structure of the tannuolinid shell is discussed and its implications for the evolution of tubular microstructures in stem and crown group brachiopods are analysed.
Phenomic networks reveal largely independent root and shoot adjustment in waterlogged plants of Lotus japonicus
Authors: STRIKER GUSTAVO G. , CASAS CECILIA , MANZUR MILENA E. , PLOSCHUK ROCÍO A. , CASAL JORGE J.
Published: January 2014

Waterlogging imposes severe stress to the plant, and the interplay between root and aerial organs in the adjustment to this stress is poorly understood. A set of recombinant inbred lines (RILs) of Lotus japonicus (Gifu B‐129 × Miyakojima MG‐20) was subjected to control and waterlogging conditions for 21 d, and 12 traits related to leaf physiological functioning, root aerenchyma formation, shoot and root morphology, and dry mass accumulation were assessed to generate phenomic networks. The phenomic network became more complex under waterlogging as a result of the incorporation of root aerenchyma and dark‐adapted Fv/Fm. Significant waterlogging‐induced variation was found for stomatal conductance, dark‐adapted Fv/Fm and aerenchyma. The RILs with stronger induction of aerenchyma in response to waterlogging tended to show reduced negative impact of this stress on root growth but suffered average impact on shoot growth. The RILs that retained higher stomatal conductance under waterlogging tended to retain higher dark‐adapted Fv/Fm and shoot growth under waterlogging conditions but showed average impact on root traits. We propose a model where, although the stress experienced by the roots during waterlogging is transmitted to the shoot, shoots and roots deal with waterlogging in a less interdependent manner than often assumed.
Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold–Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome
Authors: Peters Tess , Perrier Renee , Haber Richard M.
Published: January 2014

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X‐linked dominant congenital disorder involving defects of mesodermal‐ and ectodermal‐derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold–Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome.
Using a Nonadherent Transparent Scribing Sheet: Tip for Allergen Location in Pediatric Contact Dermatitis Testing
Authors: Admani Shehla , Jacob Sharon E.
Published: January 2014

We discuss the use of a nonadherent transparent scribing sheet as a tool to aid in allergen location during patch testing in pediatric patients.
Bullous Sweet's Syndrome After Granulocyte Colony‐Stimulating Factor Therapy in a Child with Congenital Neutropenia
Authors: Akilov Oleg E. , Desai Nisha , Jaffe Ronald , Gehris Robin P.
Published: January 2014

We present the case of a 20‐month‐old boy with congenital neutropenia for which he was being treated with granulocyte colony‐stimulating factor (G‐CSF) who developed bullous Sweet's syndrome. Because of the challenging and extensive differential diagnosis of an acute bullous eruption in an immunocompromised child, we highlight the importance of a prompt and precise diagnosis before initiation of any systemic therapy in children with Sweet's syndrome.
Logical Constants, or How to use Invariance in Order to Complete the Explication of Logical Consequence
Authors: Bonnay Denis
Published: January 2014

The problem of logical constants consists in finding a principled way to draw the line between those expressions of a language that are logical and those that are not. The criterion of invariance under permutation, attributed to Tarski, is probably the most common answer to this problem, at least within the semantic tradition. However, as the received view on the matter, it has recently come under heavy attack. Does this mean that the criterion should be amended, or maybe even that it should be abandoned? I shall review the different types of objections that have been made against invariance as a logicality criterion and distinguish between three kinds of objections, skeptical worries against the very relevance of such a demarcation, intensional warnings against the level at which the criterion operates, and extensional quarrels against the results that are obtained. I shall argue that the first two kinds of objections are at least partly misguided and that the third kind of objection calls for amendment rather than abandonment.
Policy Considerations for Improving Influenza Vaccination Rates among Pregnant Women
Authors: Mollard Elizabeth K. , Guenzel Nicholas , Brown Peggy A. , Keeler Heidi J. , Cramer Mary E.
Published: January 2014

Background

Influenza exposure during pregnancy can cause severe health problems for both the mother and her offspring, including an increased risk of mortality. Influenza vaccination during all trimesters of pregnancy is safe and effective, and recommended by professional organizations such as the American College of Obstetrics and Gynecology. Despite these recommendations, the U.S. vaccination rates remain low in this high‐risk population.

Method

A policy analysis based on the five‐part method identified by Teitelbaum and Wilensky () addresses factors to consider in identifying the best voluntary policy options to improve the vaccination rates. The authors provide discussion of the background, landscape, and stakeholder interests and the pros and cons of two voluntary policy options to increase vaccination. The policy options include: (a) financial incentives for providers and (b) an education emphasis for providers and staff.

Conclusions

The authors conclude that based on considerations of cost, provider preference, and practicality of implementation, a continuing educational intervention is the preferred policy venue to increase vaccination rates.
Genome‐wide association studies identify locus on 6p21 influencing lung function in the Korean population
Authors: Kim Woo Jin , Lee Mi Kyeong , Shin Chol , Cho Nam Han , Lee Sang Do , Oh Yeon‐Mok , Sung Joohon
Published: January 2014

Background and objective

Loss of lung function is an important chronic obstructive pulmonary disease phenotype and decreased forced expiratory volume in 1 s (FEV1) is an independent risk factor of morbidity and mortality. Genome‐wide association studies (GWAS) identifying genetic variants underlying lung function have been performed mostly in Caucasian populations. In this study, we aimed to identify genetic variants influencing lung function in a Korean population.

Methods

GWAS on lung function (FEV1 and FEV1/forced vital capacity (FVC) ratio) were performed in two cohort studies. A population‐based cohort, the Korean Association Resource phase 3 (KARE3) (6223 subjects), served as a discovery set. The replication analysis was performed in a family‐based cohort, the Healthy Twin Study (HTS; 2730 subjects). Dense single‐nucleotide polymorphism array data from each study were imputed and used for genetic analysis.

Results

At the discovery phase, variants in 6p21 and 17q24 showed the strongest association with FEV1/FVC ratio and FEV1. Several variants in FAM13A on 4q22 locus exhibited positive association with FEV1/FVC ratio. In the replication set, PPT2 in the 6p21 region showed significant association with lung function in the HTS, although the 4q22 locus and the 17q24 locus were not replicated.

Conclusions

We identified that PPT2 on chromosome 6p21 is associated with loss of lung function in the Korean population.
Some Statistical Properties of Efficiency Robust Tests with Applications to Genetic Association Studies
Authors: Zheng Gang , Li Qizhai , Yuan Ao
Published: January 2014

Although efficiency robust tests are preferred for genetic association studies when the genetic model is unknown, their statistical properties have been studied for different study designs separately under special situations. We study some statistical properties of the maximin efficiency robust test and a maximum‐type robust test (MAX3) under a general setting and obtain unified results. The results can also be applied to testing hypothesis with a constrained two‐dimensional parameter space. The results are applied to genetic association studies using case–parents trio data.
Molecular systematics of the bark lice infraorder Caeciliusetae (Insecta: Psocodea)
Authors: YOSHIZAWA KAZUNORI , MOCKFORD EDWARD L. , JOHNSON KEVIN P.
Published: January 2014

The phylogenetic relationships of bark lice and parasitic lice (Insecta: Psocodea) have been studied in a number of recent molecular phylogenetic analyses based on DNA sequences. Many of these studies have focused on the position of parasitic lice within the free‐living bark lice. However, fewer such studies have examined the relationships among major groups of free‐living bark lice and their implications for classification. In this study we focus on the infraorder Caeciliusetae, a large group of bark lice (˜1000 species) within the suborder Psocomorpha. Using sequences of two mitochondrial and two nuclear genes, we estimated the phylogeny for relationships among the five recognized families within the infraorder Caeciliusetae. Based on the results, the sister‐group relationship and respective monophyly of Stenopsocidae and Dasydemellidae is strongly supported. Monophyly of the larger families Amphipsocidae and Caeciliusidae was not supported, although the causes of this were the placement of two distinct subfamilies (Paracaeciliinae and Calocaeciliinae). The monophyly of Asiopsocidae could not be tested because it was sampled only by one species. Based on these results and consideration of morphological characters, we propose a new classification for Caeciliusetae, recognizing six families: Amphipsocidae, Stenopsocidae, Dasydemellidae, Asiopsocidae, Paracaeciliidae and Caeciliusidae. We expect that this new classification will stabilize the higher‐level taxonomy of this group and help to identify groups in need of further work among these insects.
Traumatic coagulopathy‐Part 2: Resuscitative strategies
Authors: Palmer Lee , Martin Linda
Published: January 2014

Objective

To discuss the current resuscitative strategies for trauma‐induced hemorrhagic shock and acute traumatic coagulopathy (ATC).

Etiology

Hemorrhagic shock can be acutely fatal if not immediately and appropriately treated. The primary tenets of hemorrhagic shock resuscitation are to arrest hemorrhage and restore the effective circulating volume. Large volumes of isotonic crystalloids have been the resuscitative strategy of choice; however, data from experimental animal models and retrospective human analyses now recognize that large‐volume fluid resuscitation in uncontrolled hemorrhage may be deleterious. The optimal resuscitative strategy has yet to be defined. In human trauma, implementing damage control resuscitation with damage control surgery for controlling ongoing hemorrhage, acidosis, and hypothermia; managing ATC; and restoring effective circulating volume is emerging as a more optimal resuscitative strategy. With hyperfibrinolysis playing an integral role in the manifestation of ATC, the use of antifibrinolytics (eg, tranexamic acid and aminocaproic acid) may also serve a beneficial role in the early posttraumatic period. Considering the sparse information regarding these resuscitative techniques in veterinary medicine, veterinarians are left with extrapolating information from human trials and experimental animal models.

Diagnosis

Viscoelastic tests integrated with predictive scoring systems may prove to be the most reliable methods for early detection of ATC as well as for guiding transfusion requirements.

Hemorrhage accounts for up to 40% of human trauma‐related deaths and remains the leading cause of preventable death in human trauma. The exact proportion of trauma‐related deaths due to exsanguinations in veterinary patients remains uncertain. Survivability depends upon achieving rapid definitive hemostasis, early attenuation of posttraumatic coagulopathy, and timely restoration of effective circulating volume. Early institution of damage control resuscitation in severely injured patients with uncontrolled hemorrhage has the ability to curtail posttraumatic coagulopathy and the exacerbation of metabolic acidosis and hypothermia and improve survival until definitive hemostasis is achieved.
The use of dermal substitutes in burn surgery: Acute phase
Authors: Shahrokhi Shahriar , Arno Anna , Jeschke Marc G.
Published: January 2014

Major burns represent a challenge in autologous skin coverage and may lead to severe functional and cosmetic sequelae. Dermal substitutes are increasingly becoming an essential part of burn care during the acute phase of treatment. In the long term dermal substitutes improve functional and cosmetic results and thus enhance quality of life. In the chronic wound setting, dermal substitutes are used to reconstruct and improve burn scars and defects. Despite the potential of dermal substitutes, further research is required to strengthen scientific evidence regarding their effects and also to develop new technologies and products. Furthermore, dermal substitutes have a pivotal role in future research strategies as they have the potential to provide adequate scaffold for stem cells, tissue engineering, and regenerative medicine with conceivable application of obtaining long‐lasting and scarless artificial skin. This review discusses the status quo of dermal substitutes and novel strategies in the use of dermal substitutes with a focus on burn care.
A pilot trial using topical regular crystalline insulin vs. aqueous zinc solution for uncomplicated cutaneous wound healing: Impact on quality of life
Authors: Attia Enas A. S. , Belal Dina M. I. , El Samahy May H. , El Hamamsy Manal H.
Published: January 2014

When wounds are treated with regular insulin, they are also being treated with zinc; used in the formula to crystallize insulin molecules. It is not clear if regular insulin‐accelerated wound healing is due to insulin, the zinc it contains, or both. Thus, we aimed to compare topical regular crystalline insulin (containing zinc) vs. aqueous zinc chloride solution to controls, on healing of open uncomplicated cutaneous wounds. In this randomized controlled pilot study, 90 nondiabetic patients were randomly assigned to one of three groups depending on the twice daily applications received; group I: regular insulin; group II: aqueous zinc chloride solution, and group III: 0.9% saline (control). A questionnaire was used to determine the effect of wounds on the quality of life. Both topical regular crystalline insulin (containing zinc) and aqueous zinc chloride solution enhanced healing of uncomplicated cutaneous wounds of nondiabetic patients, than control (p < 0.001), and hence improved patients' quality of life. However, regular insulin showed better results than aqueous zinc solution (p = 0.015), probably due to synergistic effect between insulin and zinc of its formulation. Healing rate was significantly higher in acute than chronic wounds (p < 0.001), in those ≤40 years than those >40 (p = 0.004), and in upper body wounds than lower body (p = 0.015).
A novel decontaminant and wound healant formulation of N,N′‐dichloro‐bis[2,4,6‐trichlorophenyl]urea against sulfur mustard–induced skin injury
Authors: Lomash Vinay , Pant Satish C.
Published: January 2014

Sulfur mustard (SM)–induced dermatotoxicity can be prevented by an immediate use of decontamination agents. However, practically due to the time lapse between decontamination and exposure, there is always a possibility of wound formation. In view of this, a hydrophilic decontamination formulation of CC‐2 (DRDE/WH‐03) was fortified with Aloe vera gel and betaine (DRDE/WH‐01) for improving its wound healing ability. Swiss albino mice were exposed to SM percutaneously (5 mg/kg) once, and after 24 hours, DRDE/WH‐01, DRDE/WH‐03, framycetin, and aloe gel were applied topically, daily for 7 days. Skin sections were subjected to histopathology, histomorphologic grading, tissue leukocytosis, and immunohistochemistry of inflammatory‐reparative biomarkers on 3 and 7 days, respectively. DRDE/WH‐01, framycetin, and aloe gel showed better reepithelialization, angiogenesis, and fibroplasia compared with DRDE/WH‐03 and SM control. On the basis of histomorphologic scale, DRDE/WH‐01, framycetin, and aloe gel were found to be equally efficacious. Up‐regulation of interleukin‐6 and infiltrating leukocytes, endothelial nitric oxide synthase and angiogenesis, fibroblast growth factor, and transforming growth factor‐alpha with fibroplasia and reepithelialization were well correlated at various stages of the healing process. DRDE/WH‐01 was equally effective as framycetin and has shown improved wound healing efficacy compared with DRDE/WH‐03. Thus, DRDE/WH‐01 can be recommended as a universal decontaminant and wound healant against vesicant‐induced skin injury.
Insulin protects against damage to pulmonary endothelial tight junctions after thermal injury: Relationship with zonula occludens‐1, F‐actin, and AKT activity
Authors: Han Jun‐Tao , Zhang Wan‐Fu , Wang Yun‐Chuan , Cai Wei‐Xia , Lv Gen‐Fa , Hu Da‐Hai
Published: January 2014

Intensive insulin therapy during critical illness protects the endothelium and thereby prevents organ failure. This study tested the hypothesis that insulin directly affects the attenuation of burn injury‐induced damage to pulmonary endothelial tight junction and investigated the underlying mechanisms. Sprague Dawley rats with severe burn injury were randomized to treatment with insulin dissolved in normal saline (maintenance of blood glucose at a level between 5.0 and 7.0 mmol/L) or normal saline alone (in vivo treatment). Pulmonary damage was evaluated. Rat pulmonary microvascular endothelial cells were treated with 20% burn serum or 20% burn serum + insulin (in vitro treatment). Selected cultures were pretreated with phosphatidylinositol 3‐kinase/protein kinase B (AKT) inhibitor (LY294002). Permeability was assessed by migration of bovine serum albumin across cell monolayers. Cells were stained with rhodamine phalloidin and were examined. Cell extracts were obtained to assess zonula occludens‐1, occludin, and phosphorylated AKT levels by immunoblotting. Treatment with insulin attenuated the pulmonary edema, hemorrhage, and inflammatory cell infiltration of rats with severe burn injury. Burn serum significantly enhanced monolayer permeability to albumin, whereas treatment with insulin (10−7 mol/L) limited this effect. Meanwhile, insulin (10−7 mol/L) reduced burn serum‐induced F‐actin stress fiber formation and decreased zonula occludens‐1 expression. LY294002 decreased cytoplasmic AKT phosphorylation and inhibited the protection effects of insulin. Through the phosphatidylinositol 3‐kinase/AKT pathway, insulin independent of glucose toxicity can attenuate increased pulmonary endothelial permeability induced by burn injury. The effect is attributed to the attenuation of the architectural disruption of protein components of the endothelial tight junction. This result is useful in inhibiting multiple organ failure after burn injury.
Tissue Penetration of Antifungal Agents
Authors: Felton Timothy , Troke Peter F. , Hope William W.
Published: January 2014

Understanding the tissue penetration of systemically administered antifungal agents is critical for a proper appreciation of their antifungal efficacy in animals and humans. Both the time course of an antifungal drug and its absolute concentrations within tissues may differ significantly from those observed in the bloodstream. In addition, tissue concentrations must also be interpreted within the context of the pathogenesis of the various invasive fungal infections, which differ significantly. There are major technical obstacles to the estimation of concentrations of antifungal agents in various tissue subcompartments, yet these agents, even those within the same class, may exhibit markedly different tissue distributions. This review explores these issues and provides a summary of tissue concentrations of 11 currently licensed systemic antifungal agents. It also explores the therapeutic implications of their distribution at various sites of infection.
Hepatitis E Virus Infection
Authors: Kamar Nassim , Dalton Harry R. , Abravanel Florence , Izopet Jacques
Published: January 2014

Hepatitis E virus (HEV) infection is a worldwide disease. An improved understanding of the natural history of HEV infection has been achieved within the last decade. Several reservoirs and transmission modes have been identified. Hepatitis E is an underdiagnosed disease, in part due to the use of serological assays with low sensitivity. However, diagnostic tools, including nucleic acid-based tests, have been improved. The epidemiology and clinical features of hepatitis E differ between developing and developed countries. HEV infection is usually an acute self-limiting disease, but in developed countries it causes chronic infection with rapidly progressive cirrhosis in organ transplant recipients, patients with hematological malignancy requiring chemotherapy, and individuals with HIV. HEV also causes extrahepatic manifestations, including a number of neurological syndromes and renal injury. Acute infection usually requires no treatment, but chronic infection should be treated by reducing immunosuppression in transplant patients and/or the use of antiviral therapy. In this comprehensive review, we summarize the current knowledge about the virus itself, as well as the epidemiology, diagnostics, natural history, and management of HEV infection in developing and developed countries.
Coexistence of inflammatory pseudotumour and pseudomembranous cystitis: a histopathological surprise
Authors: Paul Sagorika , Singh Vishwajeet , Kumar Amit , Sankhwar Satyanarayan
Published: January 2014

We report a case of inflammatory pseudotumour (IP) and pseudomembranous cystitis (PC) in a young female patient who presented with gross haematuria and clot retention. Cystoscopy revealed a single glistening, polypoid growth of approximately 3 cm × 2.5 cm at the left lateral wall and the trigone of the urinary bladder. She was treated by transurethral resection of bladder mass. The patient's symptoms significantly improved after surgery. Histopathology report revealed haphazardly arranged myofibroblasts, fibroblasts and histiocytes and discrete areas of non-keratinising squamous metaplasia that was suggestive of IP coexistence with PC. She was doing well during the follow-up period of 12 months. Cystoscopy taken at 3 monthly intervals did not show any evidence of tumour recurrence.
Intravesical knotting of guide wire during insertion of Foley catheter
Authors: Kumar Arvind , Singh Bhupendra Pal , Paul Sagorika , Sankhwar Satyanarayan
Published: January 2014

Guide wires are frequently used in urology for upper and lower urinary tract procedures. Spontaneous knotting of guide wire is a rare complication and only a few cases have been reported in the literature until now. We report a case of spontaneous intravesical knotting of guide wire during per urethral catheterisation that led to retained Foley catheter. The balloon was punctured percutaneously under ultrasound guidance and the whole assembly was removed. Guide wire knot was found near the balloon. The cystoscopy showed normal urethra and bladder. The patient was recatheterised and is doing well.
Subcutaneous endometriosis: a rare cause of deep dyspareunia
Authors: Nigam Aruna
Published: January 2014

Endometriosis is a growth of endometrial tissue outside the uterine cavity which is responsive to hormonal stimulation. Extrapelvic endometriosis is less common of which skin is the most common site. The patient presents with mass, pain and cyclic symptoms. Subcutaneous endometriosis is very rare and has been reported only thrice in the literature. We report a case where the patient with lower abdominal pain and dyspareunia. Dyspareunia due to subcutaneous endometriosis has not been reported before when there is no evidence of intrapelvic endometriosis on laparoscopy.
Scrotal haematoma following vasectomy: an unusual surgical emergency
Authors: O'Leary Bobby
Published: January 2014

A 46-year-old man who underwent a vasectomy at his general practitioner presented to the emergency department at a regional hospital with a 6 h history of scrotal swelling and skin discolouration. He was haemodynamically stable on admission, with a large, dark red swelling in his scrotum. The patient was admitted to an acute surgical unit for exploration of his scrotum. Bilateral transverse incisions were made in the patient's groin, and approximately 600 mL of blood was drained from the patient's scrotum. Postoperatively, the patient performed well, and was discharged home on oral antibiotics and analgesia. The patient's scrotum healed well, and after 2 months of follow-up, he was discharged.
Strength properties of ultra-soft kaolin
Authors: Sahdi Fauzan , Gaudin Christophe , White David J.
Published: January 2014

Geotechnical design considerations for offshore pipelines, foundations, and submarine slides involve assessment of the strength of fine-grained soils and the degradation of that strength with disturbance and remoulding. For offshore pipelines and slides, the relevant strength may be very low (a few kilopascals or lower), relating to near-surface soils and high levels of remoulding including the entrainment of additional water. It is commonly acknowledged that soils exhibit a loss of strength when disturbed, but it is not clear how the degradation properties vary with liquidity index. To address this uncertainty, this paper describes a series of centrifuge tests on kaolin samples consolidated from slurries with an initial voids ratio of 4.0. A total of 81 cyclic T-bar tests were conducted in samples with shear strengths ranging from 0.08 to 1.7 kPa (reflecting different stages of consolidation and in situ total stresses). Large-strain consolidation numerical analyses were used to assist the interpretation of the T-bar test results. The results demonstrate that the soil ductility (a parameter controlling the rate of strength degradation) can be linearly correlated to the liquidity index. The proposed ductility–liquidity index correlation is subsequently coupled with a previously published sensitivity–liquidity index relationship for natural clays to establish a model for the strain-softening behaviour observed in a T-bar test as a function of consolidation. In turn, because the sensitivity is a function of the liquidity index, the intact soil strength is linked to the remoulded strength obtained from laboratory (e.g., fall cone or miniature vane test) and simple index tests. These provide an improved basis to characterize softening effects for inclusion in simulations of submarine slide runout and models for soil–structure interactions that involve intense remoulding.
Improvement of light trapping in thin-film silicon solar cells by combining periodic and random interfaces
Authors: Bittkau K. , Hoffmann A. , Carius R.
Published: January 2014

The concept of photonic random textures for application as a light-trapping scheme in thin-film solar cells is introduced. Those textures consist of a randomly textured interface, as commonly applied in thin-film solar cells, which is superimposed with a two-dimensional grating structure. The light-scattering properties of those textures are investigated by scalar scattering theory for transmission into the absorber layer and reflection at the back contact. A quantity to describe the light-trapping efficiency is derived and verified by rigorous diffraction theory. The photonic random textures outperform the random textures and the grating structures significantly.