bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
Authors: Kim Hyeon Jin , Hong Young Bin , Park Jin-Mo , Choi Yu-Ri , Kim Ye Jin , Yoon Bo Ram , Koo Heasoo , Yoo Jeong Hyun , Kim Sang Beom , Park Minhwa , Chung Ki Wha , Choi Byung-Ok 
Published: July 2013

AbstractBackgroundMutations in thePleckstrin homology domain-containing, family G member 5(PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND). However, thePLEKHG5mutation has not been described to cause Charcot-Marie-Tooth disease (CMT).MethodsTo identify the causative mutation in an autosomal recessive intermediate CMT (RI-CMT) family with childhood onset, whole exome sequencing (WES), histopathology, and lower leg MRIs were performed. Expression and activity of each mutant protein were analyzed.ResultsWe identified novel compound heterozygous (p.Thr663Met and p.Gly820Arg) mutations in thePLEKHG5gene in the present family. The patient revealed clinical manifestations of sensory neuropathy. Fatty replacements in the distal lower leg muscles were more severe than in the thigh muscles. Although the symptoms and signs of this patient harboring slow nerve conduction velocities suggested the possibility of demyelinating neuropathy, a distal sural nerve biopsy was compatible with axonal neuropathy. Immunohistochemical analysis revealed that the patient has a low level of PLEKHG5 in the distal sural nerve and an in vitro assay suggested that the mutant proteins have a defect in activating the NF-κB signaling pathway.ConclusionsThis study identifies compound heterozygousPLEKHG5mutations as the cause of RI-CMT. We suggest that PLEKHG5 might play a role in the peripheral motor and sensory nervous system. This study expands the phenotypic spectrum ofPLEKHG5mutations.
Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome
Authors: Donadille Bruno , D’Anella Pascal , Auclair Martine , Uhrhammer Nancy , Sorel Marc , Grigorescu Romulus , Ouzounian Sophie , Cambonie Gilles , Boulot Pierre , Laforêt Pascal , Carbonne Bruno , Christin-Maitre Sophie , Bignon Yves-Jean , Vigouroux Corinne 
Published: July 2013

Abstract

Background
Laminopathies, due to mutations in LMNA, encoding A type-lamins, can lead to premature ageing and/or lipodystrophic syndromes, showing that these diseases could have close physiopathological relationships. We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase.

Methods
We analysed the clinical and biological features of two women, aged 32 and 36, referred for partial lipodystrophic syndrome which led to the molecular diagnosis of Werner syndrome. Cultured skin fibroblasts from one patient were studied.

Results
Two normal-weighted women presented with a partial lipodystrophic syndrome with hypertriglyceridemia and liver steatosis. One of them had also diabetes. Both patients showed a peculiar, striking lipodystrophic phenotype with subcutaneous lipoatrophy of the four limbs contrasting with truncal and abdominal fat accumulation. Their oral glucose tolerance tests showed extremely high levels of insulinemia, revealing major insulin resistance. Low serum levels of sex-hormone binding globulin and adiponectin suggested a post-receptor insulin signalling defect. Other clinical features included bilateral cataracts, greying hair and distal skin atrophy. We observed biallelic WRN null mutations in both women (p.Q748X homozygous, and compound heterozygous p.Q1257X/p.M1329fs). Their fertility was decreased, with preserved menstrual cycles and normal follicle-stimulating hormone levels ruling out premature ovarian failure. However undetectable anti-müllerian hormone and inhibin B indicated diminished follicular ovarian reserve. Insulin-resistance linked ovarian hyperandrogenism could also contribute to decreased fertility, and the two patients became pregnant after initiation of insulin-sensitizers (metformin). Both pregnancies were complicated by severe cervical incompetence, leading to the preterm birth of a healthy newborn in one case, but to a second trimester-abortion in the other. WRN-mutated fibroblasts showed oxidative stress, increased lamin B1 expression, nuclear dysmorphies and premature senescence.

Conclusions
We show here for the first time that partial lipodystrophy with severe insulin resistance can reveal WRN-linked premature aging syndrome. Increased expression of lamin B1 with altered lamina architecture observed in WRN-mutated fibroblasts could contribute to premature cellular senescence. Primary alterations in DNA replication and/or repair should be considered as possible causes of lipodystrophic syndromes.
Estimation of plasma fibrinogen levels based on hemoglobin, base excess and Injury Severity Score upon emergency room admission
Authors: Schlimp Christoph J , Voelckel Wolfgang , Inaba Kenji , Maegele Marc , Ponschab Martin , Schöchl Herbert 
Published: July 2013

Abstract
Introduction
Fibrinogen plays a key role in hemostasis and is the first coagulation factor to reach critical levels in massively bleeding trauma patients. Consequently, rapid estimation of plasma fibrinogen (FIB) is essential upon emergency room (ER) admission, but is not part of routine coagulation monitoring in many centers. We investigated the predictive ability of the laboratory parameters hemoglobin (Hb) and base excess (BE) upon admission, as well as the Injury Severity Score (ISS), to estimate FIB in major trauma patients.

Methods
In this retrospective study, major trauma patients (ISS ≥16) with documented FIB analysis upon ER admission were eligible for inclusion. FIB was correlated with Hb, BE and ISS, alone and in combination, using regression analysis.

Results
A total of 675 patients were enrolled (median ISS 27). FIB upon admission correlated strongly with Hb, BE and ISS. Multiple regression analysis showed that Hb and BE together predicted FIB (adjusted R2 = 0.46; loge(FIB) = 3.567 + 0.223.Hb - 0.007.Hb2 + 0.044.BE), and predictive strength increased when ISS was included (adjusted R2 = 0.51; loge(FIB) = 4.188 + 0.243.Hb - 0.008.Hb2 + 0.036.BE - 0.031.ISS + 0.0003.ISS2). Of all major trauma patients admitted with Hb <12 g/dL, 74% had low (<200 mg/dL) FIB and 54% had critical (<150 mg/dL) FIB. Of patients admitted with Hb <10 g/dL, 89% had low FIB and 73% had critical FIB. These values increased to 93% and 89%, respectively, among patients with an admission Hb <8 g/dL. Sixty-six percent of patients with only a weakly negative BE (<−2 mmol/L) showed low FIB. Of patients with BE <−6 mmol/L upon admission, 81% had low FIB and 63% had critical FIB. The corresponding values for BE <−10 mmol/L were 89% and 78%, respectively.

Conclusions
Upon ER admission, FIB of major trauma patients shows strong correlation with rapidly obtainable, routine laboratory parameters such as Hb and BE. These two parameters might provide an insightful and rapid tool to identify major trauma patients at risk of acquired hypofibrinogenemia. Early calculation of ISS could further increase the ability to predict FIB in these patients. We propose that FIB can be estimated during the initial phase of trauma care based on bedside tests.
Renal macro- and microcirculation autoregulatory capacity during early sepsis and norepinephrine infusion in rats
Authors: Burban Mélanie , Hamel Jean-François , Tabka Maher , de La Bourdonnaye Mathilde Renou , Duveau Agnès , Mercat Alain , Calès Paul , Asfar Pierre , Lerolle Nicolas 
Published: July 2013

Abstract
Introduction
The relationships between systemic hemodynamics and renal blood flow and renal microcirculation are poorly known in sepsis. Norepinephrine (NE) infusion may add another level of complexity.

Methods
Ventilated and anesthetized rats were submitted to various mean arterial pressure (MAP) steps by blood removal, in presence and absence of sepsis and/or NE. Renal blood flow (RBF) and blood velocity (Vm) in renal cortical capillaries (using Sidestream Dark Field Imaging) were measured. Data were analyzed using linear mixed models enabling us to display the effects of both the considered explanatory variables and their interactions.

Results
Positive correlations were found between MAP and RBF. Sepsis had no independent impact on RBF whereas norepinephrine decreased RBF, regardless of the presence of sepsis. The relationship between MAP and RBF was weaker above a MAP of 100 mmHg as opposed to below 100 mmHg, with RBF displaying a relative "plateau" above this threshold. Sepsis and NE impacted carotid blood flow (CBF) differently compared to RBF, demonstrating organ specificity. A positive relationship was observed between MAP and Vm. Sepsis increased Vm while nNE decreased Vm irrespective of MAP. Sepsis was associated with an increase in serum creatinine determined at the end of the experiments, which was prevented by NE infusion.

Conclusion
In our model, sepsis at an early phase did not impact RBF over a large range of MAP. NE elicited a renal vasoconstrictive effect. Autoregulation of RBF appeared conserved in sepsis. Conversely, sepsis was associated with "hypervelocity" of blood flow in cortical peritubular capillaries reversed by NE infusion.
Factors influencing the implementation of antibiotic de-escalation and impact of this strategy in critically ill patients
Authors: Gonzalez Leslie , Cravoisy Aurélie , Barraud Damien , Conrad Marie , Nace Lionel , Lemarié Jérémie , Bollaert Pierre-Edouard , Gibot Sébastien 
Published: July 2013

Abstract
Introduction
A rational use of antibiotics is of paramount importance in order to prevent the emergence of multidrug resistant bacteria that can lead to therapeutic impasse, especially in intensive care units (ICUs). A de-escalation strategy is therefore naturally advocated as part of better antibiotics usage. However, the clinical impact of such a strategy has not been widely studied. We aimed to assess the feasibility and the clinical impact of a de-escalation strategy in a medical ICU and to identify factors associated when de-escalation was possible.

Methods
We performed a retrospective study of patients hospitalized in a medical ICU over a period of six months. Independent factors associated with de-escalation and its clinical impact were assessed.

Results
Two hundred and twenty-nine patients were included in the study. Antibiotics were de-escalated in 117 patients (51%). The appropriateness of initial antibiotic therapy was the only independent factor associated with the performance of de-escalation (OR = 2.9, 95% CI, 1.5-5.7; P = 0.002). By contrast, inadequacy of initial antibiotic therapy (OR = 0.1, 0.0 to 0.1, P <0.001) and the presence of multidrug resistant bacteria (OR = 0.2, 0.1 to 0.7, P = 0.006) prevented from de-escalation. There were no differences in terms of short (ICU) or long-term (at 1 year) mortality rates or any secondary criteria such as ICU length of stay, duration of antibiotic therapy, mechanical ventilation, incidence of ICU-acquired infection, or multi-drug resistant bacteria emergence.

Conclusions
De-escalation appears feasible in most cases without any obvious negative clinical impact in a medical ICU.
Effects of synthetic colloids on oxidative stress and inflammatory response in hemorrhagic shock: comparison of hydroxyethyl starch 130/0.4, hydroxyethyl starch 200/0.5, and succinylated gelatin
Authors: Chen Gan , You Guoxing , Wang Ying , Lu Mingzi , Cheng Weina , Yang Jing , Zhao Lian , Zhou Hong 
Published: July 2013

Abstract
Introduction
This study compared the effects of hydroxyethyl starch 130/0.4, hydroxyethyl starch 200/0.5, and succinylated gelatin on oxidative stress and the inflammatory response in a rodent hemorrhagic shock model.

Methods
Sodium pentobarbital-anesthetized adult male Wistar rats (200 g to 220 g) were subjected to a severe volume-controlled hemorrhage using arterial blood withdrawal (30 mL/kg to 33 mL/kg) and resuscitated with a colloid solution at the same volume as blood withdrawal (hydroxyethyl starch 130/0.4, hydroxyethyl starch 200/0.5, or succinylated gelatin). Arterial blood gas parameters were monitored. Malondialdehyde (MDA) content and myeloperoxidase (MPO) activity in the liver, lungs, intestine, and brain were measured two hours after resuscitation. The levels of tumor necrosis factor-alpha (TNF-α) and interleukin-6 in the intestine were also measured.

Results
Infusions of hydroxyethyl starch 130/0.4, but not hydroxyethyl starch 200/0.5 or succinylated gelatin, significantly reduced MDA levels and MPO activity in the liver, intestine, lungs and brain, and it also inhibited the production of TNF-α in the intestine two hours after resuscitation. However, no significant difference between hydroxyethyl starch 200/0.5 and succinylated gelatin was observed.

Conclusions
Hydroxyethyl starch 130/0.4, but not hydroxyethyl starch 200/0.5 or succinylated gelatin, treatment after hemorrhagic shock ameliorated oxidative stress and the inflammatory response in this rat model. No significant differences were observed after hydroxyethyl starch 200/0.5 or succinylated gelatin administration at doses of approximately 33 mL/kg.
Combined impact of smoking and heavy alcohol use on cognitive decline in early old age: Whitehall II prospective cohort study
Authors: Hagger-Johnson Gareth , Sabia Séverine , Brunner Eric John , Shipley Martin , Bobak Martin , Marmot Michael , Kivimaki Mika , Singh-Manoux Archana 
Published: July 2013

BackgroundIdentifying modifiable risk factors for cognitive decline may inform prevention of dementia.AimsTo examine the combined impact of cigarette smoking and heavy alcohol consumption on cognitive decline from midlife.MethodProspective cohort study (Whitehall II cohort) with three clinical examinations in 1997/99, 2002/04 and 2007/09. Participants were 6473 adults (72% men), mean age 55.76 years (s.d. = 6.02) in 1997/99. Four cognitive tests, assessed three times over 10 years, combined into a global z-score (mean 0, s.d. = 1).ResultsAge-related decline in the global cognitive score was faster in individuals who were smoking heavy drinkers than in non-smoking moderate alcohol drinkers (reference group). The interaction term (P = 0.04) suggested that the combined effects of smoking and alcohol consumption were greater than their individual effects. Adjusting for age, gender, education and chronic diseases, 10-year decline in global cognition was −0.42 z-scores (95% Cl −0.45 to −0.39) for the reference group. In individuals who were heavy alcohol drinkers who also smoked the decline was −0.57 z-scores (95% Cl −0.67 to −0.48); 36% faster than the reference group.ConclusionsIndividuals who were smokers who drank alcohol heavily had a 36% faster cognitive decline, equivalent to an age-effect of 2 extra years over 10-year follow-up, compared with individuals who were non-smoking moderate drinkers.
Levels of α7 integrin and laminin-α2 are increased following prednisone treatment in themdxmouse and GRMD dog models of Duchenne muscular dystrophy
Authors: Wuebbles Ryan D. , Sarathy Apurva , Kornegay Joe N. , Burkin Dean J. 
Published: July 2013

SummaryDuchenne muscular dystrophy (DMD) is a fatal neuromuscular disease for which there is no cure and limited treatment options. Prednisone is currently the first line treatment option for DMD and studies have demonstrated that it improves muscle strength. Although prednisone has been used for the treatment of DMD for decades, the mechanism of action of this drug remains unclear. Recent studies have shown that α7β1 integrin is a major modifier of disease progression in mouse models of DMD and is therefore a target for drug-based therapies. In this study we examined whether prednisone increased α7β1 integrin levels in mdx mouse and GRMD dog models and myogenic cells from humans with DMD. Our results show that prednisone promotes an increase in α7 integrin protein in cultured myogenic cells and in the muscle of mdx and GRMD animal models of DMD. The prednisone-mediated increase in α7 integrin was associated with increased laminin-α2 in prednisone-treated dystrophin-deficient muscle. Together, our results suggest that prednisone acts in part through increased merosin in the muscle basal lamina and through sarcolemmal stabilization of α7β1 integrin in dystrophin-deficient muscle. These results indicate that therapies that target an increase in muscle α7β1 integrin, its signaling pathways and/or laminin could be therapeutic in DMD.
Formation of Nanoporous Anodic Gold Oxide Films in Carboxylic Acids and Spontaneous Reduction to Nanoporous Gold
Authors: Nishio Kazuyuki , Masuda Hideki 
Published: July 2013

Abstract
We investigated anodization of gold in aquaous solutions of carboxylic acids as a continuation of anodization of gold in oxalic acid. In contrast to the anodization in aquaous oxalic acid, in which nanoporous gold film is formed, nanoporous gold oxide (Au3+) films are formed in other aquaous carboxylic acids. The orange oxide films were unstable at room temperature: the films blackened within a week and then lightened in color about a month after the anodization. Although the nanoporous framework looked unchanged by SEM observation during the changes in the color, reduction of gold oxide and growth of nanoparticulate gold proceeded in the film. The isothermal adsorption measurement of the nanoporous gold, which was formed in citric acid and kept more than a month at room temperature, revealed that the mean pore size and specific surface area were 13 nm and 60 m2 g−1, respectively. These results demonstrated that bulk gold is easily anodized in aqueous carboxylic acids to form nanoporous gold oxide film. Then, it spontaneously reduces to nanoporous gold at room temperature owing to the noble redox properties of the gold.
One-pot Synthesis of 2,3-Benzodiazepines from Arynes and β-Diketones
Authors: Okuma Kentaro , Tanabe Yukiko , Itoyama Ryoichi , Nagahora Noriyoshi , Shioji Kosei 
Published: July 2013

Abstract
Novel one-pot synthesis of 2,3-benzodiazepines from aryne precursors was accomplished. Tofisopam, well-known anxiolytics, could be synthesized via C–C bond insertion of 4,5-dimethoxybenzyne with 2-ethyl-1-(3,4-dimethoxyphenyl)butane-1,3-dione, followed by the reaction with hydrazine hydrate in a one-pot operation. This protocol is applicable to the synthesis of other biologically active 2,3-benzodiazepines, such as Girisopam and Nerisopam.
Orientalism in online news: BBC stories of Somali piracy
Authors: Way Lyndon C. S. 
Published: July 2013

Abstract
This article considers how news stories about piracy off the coast of Somalia reflect E. Said’s concept of Orientalism, that is, the West representing the Rest in ways beneficial to the West. Critical discourse analysis is applied to news stories from the international BBC news website to reveal strategies used to represent a non-western ‘other’ in need of control by a successful West. This legitimates the West’s military presence and actions whilst challenging BBC’s claims of objectivity. An historical account of both Somalia and piracy precede this analysis. The former illustrates how Somalia’s current ‘failed state’ status is in part due to foreign involvement while the latter describes how this status has produced conditions conducive to piracy. Actions by the West together with the BBC’s Orientalist perspective do little to relieve Somalia’s hardship, suffering and ending Somalia’s multiple problems.
Upstairs downstairs: Communication contradictions around two African refugee camps
Authors: Kivikuru Ullamaija 
Published: July 2013

Abstract
This article describes and analyses the United Nations High Commissioner for Refugees (UNHCR) communication policy in the current world environment where a variety of well-doers attempt to pursue attention. The analysis is reflected against the results of focus group interviews with Congolese women in two refugee camps in Rwanda in November 2010. Although the women are not provided with any form of mediated communication, they do not appear to have any interest in it either. Daily concerns fill their lives in the ‘non-place’ and although that strongly limits their lifestyle and living conditions, it also ensures their safety. This article discusses both the possibility of establishing ‘small media’ or community media in the camps and the possibility of changing the principles of the United Nations (UN) communication policies.
Cyberactivism in the Tunisian and Egyptian Revolutions: Potentials, limitations, overlaps and divergences
Authors: Khamis Sahar , Vaughn Katherine 
Published: July 2013

Abstract
This article discusses the role of ‘cyberactivism’ or the role played by new media in paving the way for political transformation, in both the Tunisian and Egyptian revolutions of 2011. It starts with a discussion of the potentials of cyberactivism in both of these revolutions, especially how these new types of social media can act as effective tools for supporting the capabilities of the democratic activists by allowing forums for free speech and political networking opportunities; providing a virtual space for assembly; supporting the capability of the protestors to plan, organize and execute peaceful protests, while documenting the protests and governmental reactions to them; and providing forums for collaboration between the Tunisian and the Egyptian activists. It also sheds light on some of the limitations of the role of social media in both of these revolutions and highlights some of the overlaps and divergences between the role of cyberactivism in both of them, through comparing the similarities and differences in contexts, actors and tools.
Communication and media studies in South Africa: Observations, impressions and remarks
Authors: Salawu Abiodun 
Published: July 2013

Abstract
This article offers some self-reflexive comments on Communication and media studies in South Africa. The discipline in South Africa, presents a very exciting and intriguing posture for the simple fact that it allows for diversity– observable in the variety of labels, emphases and curricula. Equally enviable is the currency of some aspects of the programmes offered in the country and the strong theoretical foundation of research publications. Yet some deficiencies observed in a number of the curricula provoke a call for standardization of programmes offered by the various universities. The lack of regulation could be held responsible for some lapses noticeable in the structure of the various programmes. Drawing on observations of South Africa’s communication and media education landscape, this article argues that the field seems to be withdrawn and too inward-looking that is evidenced by the lack of interest in the affairs of the African Council for Communication Education (ACCE) and what used to be the predominantly locally oriented content of South African journals. Thus, South African academia is tactically excluded from the leadership which it should provide on the African continent. Some cross-references are made to the situation in Nigeria, being the country where the writer had been involved in communication and media scholarship before moving to South Africa.
How to Occupy Retreat: dOCUMENTA (13) from Kassel to Banff
Authors: Jim Alice Ming Wai 
Published: July 2013

Abstract
This article examines the aesthetico-political preoccupations and linkages between dOCUMENTA (13)’s four positions (‘on stage’ in Kassel, ‘under siege’ in Kabul/Bamiyan, ‘in a state of hope’ in Alexandria/Cairo, and ‘on retreat’ in Banff). Complemented by personal vignettes, the discussion moves between the conditional positions and the impact of the Occupy Movement as well as the contiguous notions of retreat and residency. It concludes by considering dOCUMENTA (13)’s proposition of occupying, or taking up residency in spaces as well as in objects and images, and investigating the possibility for art’s direct political engagement.