bluuebunny/crossref_metadata_2025 huggingface dataset:
Double trouble in a patient with myotonia
Authors: Hehir Michael K , Logigian Eric , Raja Rayan Dipa L , Ciafaloni Emma
Published: February 2013

Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes. Late onset acid maltase deficiency (AMD) is characterised by progressive respiratory and proximal muscle weakness; electrical but not clinical myotonia can be observed. Case report of a unique patient with concurrent NDM and AMD. We describe the clinical presentation and management of a patient with two rare neuromuscular disorders. This case illustrates the importance of reopening the differential diagnosis in patients who do not conform to the typical natural history of a specific disease.
Spinal neurofibromatosis associated with classical neurofibromatosis type 1: genetic characterisation of an atypical case
Authors: Carman Kursat bora , Yakut Ayten , Anlar Banu , Ayter Sukriye
Published: February 2013

Spinal tumours are observed in about 40% of neurofibromatosis type 1 (NF1) patients and occur within two subgroups: (1) NF1 patients carrying classical diagnostic criteria and only one or few spinal tumours and (2) patients with few NF1 stigmata but multiple bilateral spinal tumours, an entity called spinal neurofibromatosis. We report a young patient whose classical NF1 stigmata and numerous spinal neurofibromas matched both groups. He carried a single base deletion, c.389delA in exon 4a, which creates a premature termination at codon 164. This case illustrates the possibility of variant phenotypes and a novel NF1 mutation associated with spinal neurofibromatosis.
Eosinophilic ulcer of the tongue in an 80-year-old Iranian woman after a psychologically stressful event
Authors: Akhavan Ali , Mosavi Ali , Jarrahi Mohammadreza , Navabii Hossein
Published: February 2013

Eosinophilic ulcer of the oral mucosa is a benign self-limiting, chronic lesion more frequently seen in the oral cavity or tongue that can mimic squamous cell carcinoma. The pathogenesis of this problem is unknown. In this paper, we present a case of an 80-year-old woman with eosinophilic ulcer of the tongue after a psychologically stressful event.
Synthetic Biology: Advancing the Design of Diverse Genetic Systems
Authors: Wang Yen-Hsiang , Wei Kathy Y. , Smolke Christina D.
Published: February 2013

A major objective of synthetic biology is to make the process of designing genetically encoded biological systems more systematic, predictable, robust, scalable, and efficient. Examples of genetic systems in the field vary widely in terms of operating hosts, compositional approaches, and network complexity, ranging from simple genetic switches to search-and-destroy systems. While significant advances in DNA synthesis capabilities support the construction of pathway- and genome-scale programs, several design challenges currently restrict the scale of systems that can be reasonably designed and implemented. Thus, while synthetic biology offers much promise in developing systems to address challenges faced in the fields of manufacturing, environment and sustainability, and health and medicine, the realization of this potential is currently limited by the diversity of available parts and effective design frameworks. As researchers make progress in bridging this design gap, advances in the field hint at ever more diverse applications for biological systems.
The effect of posture on asynchronous chest wall movement in COPD
Authors: Priori Rita , Aliverti Andrea , Albuquerque André L. , Quaranta Marco , Albert Paul , Calverley Peter M. A.
Published: February 2013

Chronic obstructive pulmonary disease (COPD) patients often show asynchronous movement of the lower rib cage during spontaneous quiet breathing and exercise. We speculated that varying body position from seated to supine would influence rib cage asynchrony by changing the configuration of the respiratory muscles. Twenty-three severe COPD patients (forced expiratory volume in 1 s = 32.5 ± 7.0% predicted) and 12 healthy age-matched controls were studied. Measurements of the phase shift between upper and lower rib cage and between upper rib cage and abdomen were performed with opto-electronic plethysmography during quiet breathing in the seated and supine position. Changes in diaphragm zone of apposition were measured by ultrasounds. Control subjects showed no compartmental asynchronous movement, whether seated or supine. In 13 COPD patients, rib cage asynchrony was noticed in the seated posture. This asynchrony disappeared in the supine posture. In COPD, upper rib cage and abdomen were synchronous when seated, but a strong asynchrony was found in supine. The relationships between changes in diaphragm zone of apposition and volume variations of chest wall compartments supported these findings. Rib cage paradox was noticed in approximately one-half of the COPD patients while seated, but was not related to impaired diaphragm motion. In the supine posture, the rib cage paradox disappeared, suggesting that, in this posture, diaphragm mechanics improves. In conclusion, changing body position induces important differences in the chest wall behavior in COPD patients.
Obesity does not impair walking economy across a range of speeds and grades
Authors: Browning Raymond C. , Reynolds Michelle M. , Board Wayne J. , Walters Kellie A. , Reiser Raoul F.
Published: February 2013

Despite the popularity of walking as a form of physical activity for obese individuals, relatively little is known about how obesity affects the metabolic rate, economy, and underlying mechanical energetics of walking across a range of speeds and grades. The purpose of this study was to quantify metabolic rate, stride kinematics, and external mechanical work during level and gradient walking in obese and nonobese adults. Thirty-two obese [18 women, mass = 102.1 (15.6) kg, BMI = 33.9 (3.6) kg/m2; mean (SD)] and 19 nonobese [10 women, mass = 64.4 (10.6) kg, BMI = 21.6 (2.0) kg/m2] volunteers participated in this study. We measured oxygen consumption, ground reaction forces, and lower extremity kinematics while subjects walked on a dual-belt force-measuring treadmill at 11 speeds/grades (0.50–1.75 m/s, −3° to +9°). We calculated metabolic rate, stride kinematics, and external work. Net metabolic rate (Ėnet/kg, W/kg) increased with speed or grade across all individuals. Surprisingly and in contrast with previous studies, Ėnet/kgwas 0–6% less in obese compared with nonobese adults ( P = 0.013). External work, although a primary determinant of Ėnet/kg, was not affected by obesity across the range of speeds/grades used in this study. We also developed new prediction equations to estimate oxygen consumption and Ėnet/kgand found that Ėnet/kgwas positively related to relative leg mass and step width and negatively related to double support duration. These results suggest that obesity does not impair walking economy across a range of walking speeds and grades.
Perioperative Diclofenac Application during Video-Assisted Thoracic Surgery Pleurodesis Modulates Early Inflammatory and Fibrinolytic Processes in an Experimental Model
Authors: Opitz Isabelle , Arni Stephan , Oberreiter Birgit , Asmis Lars M. , Vogt Peter , Rousson Valentin , Weder Walter , Lardinois Didier
Published: February 2013

Background/Purpose: It has been substantiated that the quality of pleurodesis is reduced when non-steroidal anti-inflammatory drugs (NSAIDs) are used perioperatively. The effects of NSAID administration on the early inflammatory and fibrinolytic processes after mechanical pleurodesis were investigated in an established pig model. Methods: Left-sided mechanical pleural abrasion was performed on 24 pigs assigned to either an NSAID or a control group. Pleural fluid and blood samples were analysed over a 24-hour period. Histological evaluation of neutrophil influx at the site of pleural abrasion was performed. Results: The volume of pleural effusion was significantly decreased in the diclofenac group at 10 and 24 h, and the protein content was significantly lower. The diclofenac group at 24 h had a diminished total number of white blood cells and a reduced content of transforming growth factor-β. Moreover, the diclofenac group had a reduced percentage of neutrophils at 6 h. Significantly increased levels of D-dimers and tissue plasminogen activator were measured at 6 h and of interleukin-10 at 24 h. Neutrophils at the site of pleural abrasion were significantly reduced. Conclusions: Systemic application of diclofenac led to a local enhancement of fibrinolysis and attenuation of pro-inflammatory and fibrotic processes necessary for adhesion formation in our model.
Derivation and Validation of In-Hospital Mortality Prediction Models in Ischaemic Stroke Patients Using Administrative Data
Authors: Lee Jason , Morishima Toshitaka , Kunisawa Susumu , Sasaki Noriko , Otsubo Tetsuya , Ikai Hiroshi , Imanaka Yuichi
Published: February 2013

Background: Stroke and other cerebrovascular diseases are a major cause of death and disability. Predicting in-hospital mortality in ischaemic stroke patients can help to identify high-risk patients and guide treatment approaches. Chart reviews provide important clinical information for mortality prediction, but are laborious and limiting in sample sizes. Administrative data allow for large-scale multi-institutional analyses but lack the necessary clinical information for outcome research. However, administrative claims data in Japan has seen the recent inclusion of patient consciousness and disability information, which may allow more accurate mortality prediction using administrative data alone. The aim of this study was to derive and validate models to predict in-hospital mortality in patients admitted for ischaemic stroke using administrative data. Methods: The sample consisted of 21,445 patients from 176 Japanese hospitals, who were randomly divided into derivation and validation subgroups. Multivariable logistic regression models were developed using 7- and 30-day and overall in-hospital mortality as dependent variables. Independent variables included patient age, sex, comorbidities upon admission, Japan Coma Scale (JCS) score, Barthel Index score, modified Rankin Scale (mRS) score, and admissions after hours and on weekends/public holidays. Models were developed in the derivation subgroup, and coefficients from these models were applied to the validation subgroup. Predictive ability was analysed using C-statistics; calibration was evaluated with Hosmer-Lemeshow χ2 tests. Results: All three models showed predictive abilities similar or surpassing that of chart review-based models. The C-statistics were highest in the 7-day in-hospital mortality prediction model, at 0.906 and 0.901 in the derivation and validation subgroups, respectively. For the 30-day in-hospital mortality prediction models, the C-statistics for the derivation and validation subgroups were 0.893 and 0.872, respectively; in overall in-hospital mortality prediction these values were 0.883 and 0.876. Conclusions: In this study, we have derived and validated in-hospital mortality prediction models for three different time spans using a large population of ischaemic stroke patients in a multi-institutional analysis. The recent inclusion of JCS, Barthel Index, and mRS scores in Japanese administrative data has allowed the prediction of in-hospital mortality with accuracy comparable to that of chart review analyses. The models developed using administrative data had consistently high predictive abilities for all models in both the derivation and validation subgroups. These results have implications in the role of administrative data in future mortality prediction analyses.
Acrodermatitis Continua of Hallopeau Is a Clinical Phenotype of DITRA: Evidence that It Is a Variant of Pustular Psoriasis
Authors: Abbas Ossama , Itani Salam , Ghosn Samer , Kibbi Abdul Ghani , Fidawi Georges , Farooq Muhammad , Shimomura Yutaka , Kurban Mazen
Published: February 2013

Acrodermatitis continua of Hallopeau (ACH) is a rare, chronic, sterile, pustular eruption that predominantly affects the fingertips with nail involvement. While some consider ACH a distinct entity, many believe it to be a variant of pustular psoriasis, especially as cases of ACH progressing to generalized pustular psoriasis (GPP) have been reported. Recently, recessively inherited mutations in the IL36RN gene, which encodes interleukin-36 receptor antagonist (IL-36Ra), have been demonstrated to be the cause of familial GPP, a condition termed DITRA (deficiency of IL-36Ra). Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.
Increased Aortic Stiffness and Attenuated Lysyl Oxidase Activity in Obesity
Authors: Chen Ju-Yi , Tsai Pei-Jane , Tai Haw-Chih , Tsai Ruei-Lan , Chang Yu-Tzu , Wang Mei-Chung , Chiou Yu-Wei , Yeh Ming-Long , Tang Ming-Jer , Lam Chen-Fuh , Shiesh Shu-Chu , Li Yi-Heng , Tsai Wei-Chuan , Chou Chang-Hua , Lin Li-Jen , Wu Hua-Lin , Tsai Yau-Sheng
Published: February 2013

Objective—

One potential mechanism through which obesity exerts adverse effects on the vascular system is by increasing aortic stiffness, a change known to be predictive of increased cardiovascular mortality. The aim of this study was to investigate the pathophysiology that links obesity to aortic stiffening.

Approach and Results—

Obese (
ob/ob
) mice were used to examine physical, morphological, and molecular changes in the aorta in response to obesity.
ob/ob
mice had increased aortic pulse wave velocity and tissue rigidity.
ob/ob
aorta exhibited decreases of lysyl oxidase (LOX) activity and cross-linked elastin, and increases of elastin fragmentation and elastolytic activity. The aortas of
ob/ob
mice were surrounded by a significant amount of proinflammatory and pro-oxidative perivascular adipose tissue. In vitro studies revealed that the conditioned medium from differentiated adipocytes or the perivascular adipose tissue of
ob/ob
mice attenuated LOX activity. Furthermore, inhibition of LOX in wild-type lean mice caused elastin fragmentation and induced a significant increase in pulse wave velocity. Finally, we found that obese humans had stiffer arteries and lower serum LOX levels than do normal-weight humans.

Conclusion—

Our results demonstrated that obesity resulted in aortic stiffening in both humans and mice, and established a causal relationship between LOX downregulation and aortic stiffening in obesity.
AIP1 Suppresses Atherosclerosis by Limiting Hyperlipidemia-Induced Inflammation and Vascular Endothelial Dysfunction
Authors: Huang Qunhua , Qin Lingfeng , Dai Shengchuan , Zhang Haifeng , Pasula Satish , Zhou Huanjiao , Chen Hong , Min Wang
Published: February 2013

Objective—

Apoptosis signal–regulating kinase 1–interacting protein-1 (AIP1) is a signaling adaptor molecule implicated in stress and apoptotic signaling induced by proinflammatory mediators. However, its function in atherosclerosis has not been established. In the present study, we use AIP1-null (AIP1
−/−
) mice to examine its effect on atherosclerotic lesions in an apolipoprotein E-null (ApoE
−/−
) mouse model of atherosclerosis.

Approach and Results—

ApoE
−/−
control mice developed atherosclerosis in the aortic roots and descending aortas on Western-type diet for 10 weeks, whereas the atherosclerotic lesions are significantly augmented in ApoE
−/−
AIP1
−/−
double knockout (DKO) mice. DKO mice show increases in plasma inflammatory cytokines with no significant alterations in body weight, total cholesterol levels, or lipoprotein profiles. Aortas in DKO mice show increased inflammation and endothelial cell (EC) dysfunction with nuclear factor-κB activity, correlating with increased accumulation of macrophages in the lesion area. Importantly, macrophages from DKO donors are not sufficient to augment inflammatory responses and atherogenesis when transferred to ApoE-KO recipients. Mechanistic studies suggest that AIP1 is highly expressed in aortic EC, but not in macrophages, and AIP1 deletion in EC significantly enhance oxidized low-density lipoprotein–induced nuclear factor-κB signaling, gene expression of inflammatory molecules, and monocyte adhesion, suggesting that vascular EC are responsible for the increased inflammatory responses observed in DKO mice.

Conclusion—

Our data demonstrate that loss of AIP1 in aortic EC primarily contributes to the exacerbated lesion expansion in the ApoE
−/−
AIP1
−/−
mice, revealing an important role of AIP1 in limiting inflammation, EC dysfunction, and atherosclerosis.
Judicial Independence and Accountability in Cameroon: Balancing a Tenuous Relationship
Authors: Enonchong Laura-Stella Eposi
Published: February 2013

Abstract

This article examines Cameroon’s approach to judicial accountability focusing on its political accountability to the executive. The article contends that the judiciary in Cameroon is excessively accountable to the executive, a position which has resulted to the absence of judicial independence. It also contends that a constitutional reform is necessary to restructure the relationship between the executive and the judiciary and to reform the institutions of judicial insulation in order to provide adequate balance between independence and accountability.
Group Cohesion and Coherency and a Threat of Loss in the Analytic Group
Authors: Begovac Branka , Begovac Ivan
Published: February 2013

We discuss the dynamics of an analytic group when a female member spoke about her three-year-old child suffering from a malignant disease. The group was slow-open and consisted of six members and the female therapist (the first author). The group held sessions one and a half hours a week for approximately five years. The therapist conducted the group in accordance with the theoretical background of Foulkes. During the period described in this article (10 months), the group went through hard times; they moved from an initial fear of disintegration to gradual recovery by working through the previous separation anxiety of individual members and of the group as a whole. We believe that the threatening loss (i.e., facing the fear of death) led to more profound interactions. In our opinion, the well-developed coherency very much contributed to the gradual recovery.
Volunteering for College? Potential Implications of Financial Aid Tax Credits Rewarding Community Service
Authors: Wells Ryan S. , Lynch Cassie M.
Published: February 2013

President Obama has proposed a financial aid policy whereby students who complete 100 hours of community service would receive a tax credit of US$4,000 for college. After lawmakers cut this proposal from previous legislation, the administration was tasked with studying the feasibility of implementation. However, the implications of the policy for potential and current college students are unclear, especially for students who have the most financial need. Given existing literature about student volunteerism, tax credits, and inducements as policy instruments, combined with analyses of student volunteerism from three national data sets, this study explores disparities in student volunteerism by income level and school type and draws implications from these results concerning who would be most likely to benefit from such a policy.
Intensive care nurses’ perception of futility
Authors: Özden Dilek , Karagözoğlu Şerife , Yıldırım Gülay
Published: February 2013

Suffering repeated experiences of moral distress in intensive care units due to applications of futility reflects on nurses’ patient care negatively, increases their burnout, and reduces their job satisfaction. This study was carried out to investigate the levels of job satisfaction and exhaustion suffered by intensive care nurses and the relationship between them through the futility dimension of the issue. The study included 138 intensive care nurses. The data were obtained with the futility questionnaire developed by the researchers, Maslach Burnout Inventory and Minnesota Satisfaction Questionnaire. It was determined that nurses who agreed to the proposition that the application of futility demoralizes health-care professionals had low levels of job satisfaction but high levels of depersonalization. It was determined that nurses had moderate levels of job satisfaction, emotional exhaustion, and personal achievements but high levels of sensitivity. Nurses’ job satisfaction and sensitivities are positively affected when they consider that futility does not contradict the purposes of medicine.
Subcutaneous fluid port-associated soft tissue sarcoma in a cat
Authors: McLeland Shannon M , Imhoff Darren J , Thomas Michelle , Powers Barb E , Quimby Jessica M
Published: February 2013

A 20-year-old male castrated domestic longhair cat was evaluated for assessment of its chronic kidney disease (CKD) and a non-healing ulcerated mass at the site of a previously placed and subsequently removed GIF tube. The cat had been diagnosed with CKD 10 years prior and two GIF tubes had been placed over a 5-year period, the second of which was associated with secondary infection. Biopsy of the non-healing ulcerated mass was consistent with grade 2 soft tissue sarcoma. At necropsy there was a discrete, serpentine, subcutaneous mass measuring approximately 8 mm in diameter that extended approximately 20 cm along the dorsum to the caudal thorax, following the path of the GIF tube, from the main intrascapular, ulcerated mass where the fluid port injection site was located. This is the first report of a fibrosarcoma arising at the site of a subcutaneous fluid port in a cat. Although the cat’s owners were pleased with the 4 years of quality of life provided by this device, this complication should be considered when a decision to place ports for long-term management of disease is made.
Nursing Testimony Before Congress, 1993-2011
Authors: Cohen Sally S. , Muench Ulrike
Published: February 2013

This article describes nurses’ testimony before congressional committees between1993 and 2011. We address three questions: (a) How have trends in nurses’ testimony changed over time? (b) What do data reveal about nursing’s engagement with health policy issues on the congressional agenda? (c) How might the findings be useful in implementation of health care reform and the Institute of Medicine report on the Future of Nursing. Using LexisNexis® Congressional online database, we identified 434 nursing testimonies presented at congressional hearings. Descriptive statistics were used to examine characteristics of the nurse expert witnesses and the testimonies topics on which they testified. Nurses most frequently testified on workforce issues (36%), followed by access and coverage (14%). The majority of the nurse witnesses had graduate degrees 65% and lived and worked in fewer than 10 states. Nurses appeared before House or Senate appropriations committees 38% more often than before any other congressional committees. Our findings point to the need for additional research, especially given the crescendo of calls for nursing to step up to the political table. The article concludes with implications for future research and policy action.
Multiclass relevance units machine: benchmark evaluation and application to small ncRNA discovery
Authors: Menor Mark , Baek Kyungim , Poisson Guylaine
Published: February 2013

Background

Classification is the problem of assigning each input object to one of a finite number of classes. This problem has been extensively studied in machine learning and statistics, and there are numerous applications to bioinformatics as well as many other fields. Building a multiclass classifier has been a challenge, where the direct approach of altering the binary classification algorithm to accommodate more than two classes can be computationally too expensive. Hence the indirect approach of using binary decomposition has been commonly used, in which retrieving the class posterior probabilities from the set of binary posterior probabilities given by the individual binary classifiers has been a major issue.

Methods

In this work, we present an extension of a recently introduced probabilistic kernel-based learning algorithm called the Classification Relevance Units Machine (CRUM) to the multiclass setting to increase its applicability. The extension is achieved under the error correcting output codes framework. The probabilistic outputs of the binary CRUMs are preserved using a proposed linear-time decoding algorithm, an alternative to the generalized Bradley-Terry (GBT) algorithm whose application to large-scale prediction settings is prohibited by its computational complexity. The resulting classifier is called the Multiclass Relevance Units Machine (McRUM).

Results

The evaluation of McRUM on a variety of real small-scale benchmark datasets shows that our proposed Naïve decoding algorithm is computationally more efficient than the GBT algorithm while maintaining a similar level of predictive accuracy. Then a set of experiments on a larger scale dataset for small ncRNA classification have been conducted with Naïve McRUM and compared with the Gaussian and linear SVM. Although McRUM's predictive performance is slightly lower than the Gaussian SVM, the results show that the similar level of true positive rate can be achieved by sacrificing false positive rate slightly. Furthermore, McRUM is computationally more efficient than the SVM, which is an important factor for large-scale analysis.

Conclusions

We have proposed McRUM, a multiclass extension of binary CRUM. McRUM with Naïve decoding algorithm is computationally efficient in run-time and its predictive performance is comparable to the well-known SVM, showing its potential in solving large-scale multiclass problems in bioinformatics and other fields of study.
Ginger and turmeric expressed sequence tags identify signature genes for rhizome identity and development and the biosynthesis of curcuminoids, gingerols and terpenoids
Authors: Koo HyunJo , McDowell Eric T , Ma Xiaoqiang , Greer Kevin A , Kapteyn Jeremy , Xie Zhengzhi , Descour Anne , Kim HyeRan , Yu Yeisoo , Kudrna David , Wing Rod A , Soderlund Carol A , Gang David R
Published: February 2013

Background

Ginger (Zingiber officinale) and turmeric (Curcuma longa) accumulate important pharmacologically active metabolites at high levels in their rhizomes. Despite their importance, relatively little is known regarding gene expression in the rhizomes of ginger and turmeric.

Results

In order to identify rhizome-enriched genes and genes encoding specialized metabolism enzymes and pathway regulators, we evaluated an assembled collection of expressed sequence tags (ESTs) from eight different ginger and turmeric tissues. Comparisons to publicly available sorghum rhizome ESTs revealed a total of 777 gene transcripts expressed in ginger/turmeric and sorghum rhizomes but apparently absent from other tissues. The list of rhizome-specific transcripts was enriched for genes associated with regulation of tissue growth, development, and transcription. In particular, transcripts for ethylene response factors and AUX/IAA proteins appeared to accumulate in patterns mirroring results from previous studies regarding rhizome growth responses to exogenous applications of auxin and ethylene. Thus, these genes may play important roles in defining rhizome growth and development. Additional associations were made for ginger and turmeric rhizome-enriched MADS box transcription factors, their putative rhizome-enriched homologs in sorghum, and rhizomatous QTLs in rice. Additionally, analysis of both primary and specialized metabolism genes indicates that ginger and turmeric rhizomes are primarily devoted to the utilization of leaf supplied sucrose for the production and/or storage of specialized metabolites associated with the phenylpropanoid pathway and putative type III polyketide synthase gene products. This finding reinforces earlier hypotheses predicting roles of this enzyme class in the production of curcuminoids and gingerols.

Conclusion

A significant set of genes were found to be exclusively or preferentially expressed in the rhizome of ginger and turmeric. Specific transcription factors and other regulatory genes were found that were common to the two species and that are excellent candidates for involvement in rhizome growth, differentiation and development. Large classes of enzymes involved in specialized metabolism were also found to have apparent tissue-specific expression, suggesting that gene expression itself may play an important role in regulating metabolite production in these plants.
Family burden in inherited ichthyosis: creation of a specific questionnaire
Authors: Dufresne Hélène , Hadj-Rabia Smail , Méni Cécile , Sibaud Vincent , Bodemer Christine , Taïeb Charles
Published: February 2013

Background

The concept of individual burden, associated with disease, has been introduced recently to determine the “disability” caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cornification. Skin symptoms have a major impact on patients’ Quality of Life but little is known about the burden of the disease on the families of patients.

Objectives

To develop and validate a specific burden questionnaire for the families of patients affected by ichthyosis.

Methods

Two steps were required. First, the creation of the questionnaire which followed a strict methodological process involving a multidisciplinary team and families. Secondarily, the validation of the questionnaire, including the assessment of its reliability, external validity, reproducibility and sensitivity, was carried out on a population of patients affected by autosomal recessive congenital ichthyosis. A population of parents of patients affected by ichthyosis was enrolled to answer the new questionnaire in association with the Short Form Q12 questionnaire (SF-12) and a clinical severity score was filled for each patient.

Results

Ninety four families were interviewed to construct the verbatim in order to create the questionnaire and a cognitive debriefing was realized. The concept of burden could be structured around five components: “economic”, “daily life”, “familial and personal relationship”, “work”, and “psychological impact”. As a result, “Family Burden Ichthyosis” (FBI) reproducible questionnaire of 25 items was created.

Forty two questionnaires were analyzable for psychometric validation. Reliability (Cronbach’s alpha coefficient = 0.89), reflected the good homogeneity of the questionnaire. The correlation between mental dimensions of the SF-12 and the FBI questionnaire was statistically significant which confirmed the external validity. The mean FBI score was 71.7 ± 18.8 and a significant difference in the FBI score was shown between two groups of severity underlining a good sensitivity of the questionnaire.

Conclusions

The internal and external validity of the “FBI” questionnaire was confirmed and it is correlated to the severity of ichtyosis. Ichthyoses, and other chronic pathologies, are difficult to assess by clinical or Quality of Life aspects alone as their impact can be multidimensional. “FBI” takes them all into consideration in order to explain every angle of the handicap generated.
Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts
Authors: Vardarajan Badri , Vergote David , Tissir Fadel , Logue Mark , Yang Jing , Daude Nathalie , Ando Kunie , Rogaeva Ekaterina , Lee Joseph , Cheng Rong , Brion Jean-Pierre , Ghani Mahdi , Shi Beipei , Baldwin Clinton T , Kar Satyabrata , Mayeux Richard , Fraser Paul , Goffinet André M , George-Hyslop Peter St , Farrer Lindsay A , Westaway David
Published: February 2013

Background

P73 belongs to the p53 family of cell survival regulators with the corresponding locusTrp73producing the N-terminally distinct isoforms, TAp73 and DeltaNp73. Recently, two studies have implicated the murineTrp73in the modulation in phospho-tau accumulation in aged wild type mice and in young mice modeling Alzheimer’s disease (AD) suggesting thatTrp73, particularly the DeltaNp73 isoform, links the accumulation of amyloid peptides to the creation of neurofibrillary tangles (NFTs). Here, we reevaluated tau pathologies in the same TgCRND8 mouse model as the previous studies.

Results

Despite the use of the same animal models, ourin vivostudies failed to demonstrate biochemical or histological evidence for misprocessing of tau in young compound Trp73+/-+ TgCRND8 mice or in aged Trp73+/-mice analyzed at the ages reported previously, or older. Secondly, we analyzed an additional mouse model where the DeltaNp73 was specifically deleted and confirmed a lack of impact of the DeltaNp73 allele, either in heterozygous or homozygous form, upon tau pathology in aged mice. Lastly, we also examined humanTP73for single nucleotide polymorphisms (SNPs) and/or copy number variants in a meta-analysis of 10 AD genome-wide association datasets. No SNPs reached significance after correction for multiple testing and no duplications/deletions inTP73were found in 549 cases of AD and 544 non-demented controls.

Conclusion

Our results fail to support P73 as a contributor to AD pathogenesis.
De novo prediction of the genomic components and capabilities for microbial plant biomass degradation from (meta-)genomes
Authors: Weimann Aaron , Trukhina Yulia , Pope Phillip B , Konietzny Sebastian GA , McHardy Alice C
Published: February 2013

Background

Understanding the biological mechanisms used by microorganisms for plant biomass degradation is of considerable biotechnological interest. Despite of the growing number of sequenced (meta)genomes of plant biomass-degrading microbes, there is currently no technique for the systematic determination of the genomic components of this process from these data.

Results

We describe a computational method for the discovery of the protein domains and CAZy families involved in microbial plant biomass degradation. Our method furthermore accurately predicts the capability to degrade plant biomass for microbial species from their genome sequences. Application to a large, manually curated data set of microbial degraders and non-degraders identified gene families of enzymes known by physiological and biochemical tests to be implicated in cellulose degradation, such as GH5 and GH6. Additionally, genes of enzymes that degrade other plant polysaccharides, such as hemicellulose, pectins and oligosaccharides, were found, as well as gene families which have not previously been related to the process. For draft genomes reconstructed from a cow rumen metagenome our method predicted Bacteroidetes-affiliated species and a relative to a known plant biomass degrader to be plant biomass degraders. This was supported by the presence of genes encoding enzymatically active glycoside hydrolases in these genomes.

Conclusions

Our results show the potential of the method for generating novel insights into microbial plant biomass degradation from (meta-)genome data, where there is an increasing production of genome assemblages for uncultured microbes.
Room-temperature Sinterable Silver Nanoparticle Ink with Low-molecular-weight Poly(N-vinylpyrrolidone) Ligand
Authors: Lee Mi Yeon , Lee Won Jin , Roy Arup Kumer , Lee Kang Seok , Park Sung Young , Lee Ji-Hoon , In Insik
Published: February 2013

A highly conductive silver (Ag) film or pattern was prepared on a poly(ethylene terephthalate) (PET) substrate by using room-temperature sinterable silver nanoparticle (AgNP) ink without any thermal treatment. The most critical factor in the room-temperature sintering of the AgNP ink was the molecular weight of the poly(N-vinylpyrrolidone) (PVP) ligand. AgNP-10 ink having a PVP ligand with the lowest molecular weight of 10000 Da produced a conductive Ag film with 6.3% of the conductivity of bulk silver without any post-treatment such as heating.
Comparison of natural and recombinant tissue factor proteins: new insights
Authors: Butenas Saulius
Published: February 2013

Tissue factor (TF), an initiator of blood coagulation in vivo, is expressed in a variety of cells. Sufficient natural TF has been isolated to clone and express recombinant proteins ranging from full-length TF to its extracellular domain. Because of the limited availability of natural TF, recombinant proteins have been used as surrogates. Despite the differences in their post-translational modifications, it has been accepted that membrane-anchored recombinant TFs are quite similar to the natural TF. Recent studies, however, have shown that post-translational modifications play an important role in TF-triggered thrombin generation.
Towards a Representative Bureaucracy: Promoting Linguistic Representation and Diversity in the Swiss and Canadian Federal Public Services
Authors: Kübler Daniel , Kobelt Émilienne , Andrey Stephanie
Published: February 2013

Drawing on the concept of representative bureaucracy, this article examines how two multilingual states – Canada and Switzerland – deal with issues related to the participation of different linguistic communities in the federal public service. Following a political mobilization of the linguistic cleavage, strategies to promote multilingualism in the public service have been adopted in both countries. The Canadian strategy focuses on equal treatment of Anglophones and Francophones in the public service. In Switzerland, adequate representation of the linguistic communities is the primary goal. These differences are explained by the characteristics of the linguistic regimes in each of the two countries as well as by the peculiarities of consociational democracy in Switzerland. In both countries, the linguistic origins of public administration staff, overall, mirrors the proportions of the linguistic communities in the wider society. Within administrative units, however, linguistic diversity is hampered by the logics of language rationalization, where minorities are under pressure to communicate in the language of the majority.
Matrix metalloproteinases-2, -3 and tissue inhibitors of metalloproteinases-1, -2 in placentas from preterm pregnancies and their association with one-carbon metabolites
Authors: Sundrani Deepali , Chavan-Gautam Preeti , Pisal Hemlata , Mehendale Savita , Joshi Sadhana
Published: February 2013

Maternal nutrition is an important determinant of one-carbon metabolism and defects in the one-carbon metabolism may lead to poor obstetric outcomes. This study was designed to test the hypothesis that altered intake/metabolism of micronutrients (folic acid and vitamin B12) and docosahexaenoic acid (DHA) contributes to increased homocysteine and oxidative stress leading to altered levels of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) in women delivering preterm. We have earlier reported increased vitamin B12, homocysteine, and oxidative stress along with reduced placental DHA in women delivering preterm. In this study, we further examine the placental levels of MMP2, MMP3, TIMP1, and TIMP2 in 75 women delivering at term and 73 women delivering preterm. Placental levels of MMPs and TIMPs were determined by ELISA. Placental MMP2 and MMP3 levels were higher (P<0.01) in women delivering preterm as compared with term. There was no difference in the placental TIMP1 and TIMP2 levels in women delivering preterm and at term. Further placental MMP2 and MMP3 levels were higher (P<0.01) in women with preterm labor as compared with those in labor at term, suggesting that MMPs may favor degradation of extracellular matrix in the placenta during preterm labor. Our study for the first time suggests a crucial role of micronutrients and MMPs in preterm birth. Future studies need to examine if epigenetic modifications through the one-carbon cycle contribute to increased levels of MMPs leading to preterm deliveries.
The Protein Chaperone HSP90 Can Facilitate the Divergence of Gene Duplicates
Authors: Lachowiec Jennifer , Lemus Tzitziki , Thomas James H , Murphy Patrick J M , Nemhauser Jennifer L , Queitsch Christine
Published: February 2013

The heat-shock protein 90 (HSP90) acts as a chaperone by ensuring proper maturation and folding of its client proteins. The HSP90 capacitor hypothesis holds that interactions with HSP90 allow proteins to accumulate mutations while maintaining function. Following this logic, HSP90 clients would be predicted to show relaxed selection compared with nonclients. In this study, we identify a new HSP90 client in the plant steroid hormone pathway: the transcription factor BES1. Its closest paralog, BZR1, is not an HSP90 client. This difference in HSP90 client status in two highly similar proteins enabled a direct test of the capacitor hypothesis. We find that BES1 shows relaxed selection compared to BZR1, hallmarks of neo- and subfunctionalization, and dynamic HSP90 client status across independent evolutionary paths. These results suggested that HSP90’s influence on gene evolution may be detectable if we compare gene duplicates because duplicates share most other properties influencing evolutionary rate that might otherwise conceal the chaperone’s effect. We test this hypothesis using systematically identified HSP90 clients in yeast and observe a significant trend of HSP90 clients evolving faster than their nonclient paralogs. This trend was not detected when yeast clients and nonclients were compared without considering paralog status. Our data provide evidence that HSP90 influences selection on genes encoding its clients and facilitates divergence between gene duplicates.
Understanding relationships among abundance, extirpation, and climate at ecoregional scales
Authors: Beever Erik A. , Dobrowski S. Z. , Long J. , Mynsberge A. R. , Piekielek N. B.
Published: February 2013

Recent research on mountain‐dwelling species has illustrated changes in species' distributional patterns in response to climate change. Abundance of a species will likely provide an earlier warning indicator of change than will occupancy, yet relationships between abundance and climatic factors have received less attention. We tested whether predictors of counts of American pikas (Ochotona princeps) during surveys from the Great Basin region in 1994–1999 and 2003–2008 differed between the two periods. Additionally, we tested whether various modeled aspects of ecohydrology better predicted relative density than did average annual precipitation, and whether risk of site‐wide extirpation predicted subsequent population counts of pikas. We observed several patterns of change in pika abundance at range edges that likely constitute early warnings of distributional shifts. Predictors of pika abundance differed strongly between the survey periods, as did pika extirpation patterns previously reported from this region. Additionally, maximum snowpack and growing‐season precipitation resulted in better‐supported models than those using average annual precipitation, and constituted two of the top three predictors of pika density in the 2000s surveys (affecting pikas perhaps via vegetation). Unexpectedly, we found that extirpation risk positively predicted subsequent population size. Our results emphasize the need to clarify mechanisms underlying biotic responses to recent climate change at organism‐relevant scales, to inform management and conservation strategies for species of concern.
Transient Pressure Waves in the Vadose Zone and the Rapid Water Table Response
Authors: Waswa George W. , Clulow Alistair D. , Freese Carl , Le Roux Pieter A.L. , Lorentz Simon A.
Published: February 2013

The behavior of a water table (WT) is important in understanding groundwater dynamics. Results are presented of a disproportionate response of a WT in two distinct transient pressure wave mechanisms that occurred during rainfall events of the 2000–2001 summer season and in two different hillslope zones in the Weatherley research catchment of South Africa. The first mechanism was a groundwater ridging pressure wave, which frequently occurred at the low‐lying wetland zone and when the capillary fringe was close to the ground surface. Results from this zone indicated that groundwater ridging WT responses were caused by rainfall events that had a threshold total rainfall of 10 mm, and the magnitude of the responses had a linear relationship with the peak rainfall intensities. The mechanism, which exhibited the characteristics of the Lisse effect (pneumatically pressurized WT response), occurred at an elevated zone of the catchment, where bedrock is overlain by a shallow soil profile and perched groundwater. This second mechanism was particularly evident during a rainfall event that occurred in the early part of the season. During this event, a peak rainfall intensity of 228 mm/h generated a pressure wave from the ground surface toward the WT, where it disproportionately elevated the hydraulic head in the groundwater by 106 cm of H2O at the toeslope and without groundwater recharge via the infiltration profile. A laboratory experiment was performed and verified that the second mechanism was the Lisse effect and that, as in the groundwater ridging, the capillary fringe played a significant role.
Effects of Near Surface Soil Moisture Profiles During Evaporation on Far‐Field Ground‐Penetrating Radar Data: A Numerical Study
Authors: Moghadas Davood , Jadoon Khan Zaib , Vanderborght Jan , Lambot Sébastien , Vereecken Harry
Published: February 2013

We investigated the effects of a drying front that emerges below an evaporating soil surface on the far‐field ground‐penetrating radar (GPR) data. First, we performed an analysis of the width of the drying front in soils with 12 different textures by using an analytical model. Then, we numerically simulated vertical soil moisture profiles that develop during evaporation for the soil textures. We performed the simulations using a Richards flow model that considers only liquid water flow and a model that considers coupled water, vapor, and heat flows. The GPR signals were then generated from the simulated soil water content profiles taking into account the frequency dependency of apparent electrical conductivity and dielectric permittivity. The analytical approach indicated that the width of the drying front at the end of Stage I of the evaporation was larger in silty soils than in other soil textures and smaller in sandy soils. We also demonstrated that the analytical estimate of the width of the drying front can be considered as a proxy for the impact that a drying front could have on far‐field GPR data. The numerical simulations led to the conclusion that vapor transport in soil resulted in S‐shaped soil moisture profiles, which clearly influenced the GPR data. As a result, vapor flow needs to be considered when GPR data are interpreted in a coupled inversion approach. Moreover, the impact of vapor flow on the GPR data was larger for silty than for sandy soils. These effects on the GPR data provide promising perspectives regarding the use of radars for evaporation monitoring.