bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis
Authors: RAMESH VENKATESWARAN , BERNARDI BRUNO , STAFA ALTIN , GARONE CATERINA , FRANZONI EMILIO , ABINUN MARIO , MITCHELL PATRICK , MITRA DIPAYAN , FRISWELL MARK , NELSON JOHN , SHALEV STAVIT A , RICE GILLIAN I , GORNALL HANNAH , SZYNKIEWICZ MARCIN , AYMARD FRANÇOIS , GANESAN VIJEYA , PRENDIVILLE JULIE , LIVINGSTON JOHN H , CROW YANICK J 
Published: July 2010

Aim  To describe a spectrum of intracerebral large artery disease in Aicardi–Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1.Method  We used clinical and radiological description and molecular analysis.Results  Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post‐mortem examination of one patient suggested that the arteriopathy was inflammatory in origin.Interpretation  Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1.
Defined inflammatory states in astrocyte cultures: correlation with susceptibility towards CD95‐driven apoptosis
Authors: Falsig Jeppe , Latta Markus , Leist Marcel 
Published: July 2010

AbstractA complete cytokine mix (CCM) or its individual components tumour necrosis factor‐alpha (TNF‐α), interleukin‐1beta (IL‐1β) and interferon‐gamma (IFN‐γ) were used to switch resting murine astrocytes to reactive states. The transformation process was characterized by differential up‐regulation of interleukin‐6 (IL‐6), cyclooxygenase‐2 (COX‐2) and inducible nitric oxide synthetase (iNOS) mRNA and protein and a subsequent release of prostaglandin E2, nitric oxide (NO) and IL‐6. Both CD95L and anti‐CD95 antibodies triggered caspase activation followed by apoptotic death in fully pro‐inflammatory astrocytes, whereas resting cells were totally resistant. Two other death‐inducing ligands, TNF and TNF‐related apoptosis‐inducing ligand (TRAIL) did not induce apoptosis in reactive astrocytes. The switch in astrocyte sensitivity was accompanied by up‐regulation of caspase‐8 and CD95 as well as the capacity to recruit Fas‐associated death domain (FADD) to the activated death receptor complex. Neither CD95‐mediated death, nor other inflammatory parameters were affected by inhibition of iNOS or COX, respectively. Accordingly, IFN‐γ was absolutely essential for up‐regulation of iNOS, but not for the switch in apoptosis sensitivity. In contrast, p38 kinase activity was identified as an important controller of both the inflammatory reaction and apoptosis both in astrocytes stimulated with CCM and in glia exposed to TNF and IL‐1 only.
Role of proline residues in the expression and function of the human noradrenaline transporter
Authors: Paczkowski F. A. , Bryan‐Lluka L. J. 
Published: July 2010

AbstractThe aim was to investigate the roles of proline residues in extracellular loop 2 (P172, P183, P188 and P209) and transmembrane domains 2, 5, 11 and 12 (P108, P270, P526, P551, P552 and P570) in determining noradrenaline transporter (NET) expression and function. Mutants of human NET with these residues mutated to alanine were pharmacologically characterized. Mutation of P108, P270 and P526 disrupted cell surface expression, from [3H]nisoxetine binding and confocal microscopy data. Mutations of P526, P551 and P570 reduced transporter turnover (Vmaxof [3H]noradrenaline uptake/Bmaxof [3H]nisoxetine binding) by 1.5–1.7‐fold compared with wild‐type NET, so these residues might be involved in conformational changes associated with substrate translocation. Conversely, mutations of P172, P183, P188 and P209 increasedVmax/Bmaxby 2–3‐fold compared with wild‐type, indicating that the presence of these proline residues limits turnover of the NET. The mutations had few effects on apparent affinities of substrates or affinities of inhibitors, except decreases in inhibitor affinities after mutations of the P270 and P570 residues, and increases after mutation of the P526 residue. Hence, proline residues in extracellular loop 2 and in transmembrane domains have a range of roles in determining expression and function of the NET.
Ischaemic preconditioning in the rat brain: effect on the activity of several initiation factors, Akt and extracellular signal‐regulated protein kinase phosphorylation, and GRP78 and GADD34 expression
Authors: García Lidia , Burda Jozef , Hrehorovská Milina , Burda Rastislav , Martín M. Elena , Salinas Matilde 
Published: July 2010

AbstractTranslational repression induced during reperfusion of the ischaemic brain is significantly attenuated by ischaemic preconditioning. The present work was undertaken to identify the components of the translational machinery involved and to determine whether translational attenuation selectively modifies protein expression patterns during reperfusion. Wistar rats were preconditioned by 5‐min sublethal ischaemia and 2 days later, 30‐min lethal ischaemia was induced. Several parameters were studied after lethal ischaemia and reperfusion in rats with and without acquired ischaemic tolerance (IT). The phosphorylation pattern of the α subunit of eukaryotic initiation factor 2 (eIF2) in rats with IT was exactly the same as in rats without IT, reaching a peak after 30 min reperfusion and returning to control values within 4 h in both the cortex and hippocampus. The levels of phosphorylated eIF4E‐binding protein after lethal ischaemia and eIF4E at 30 min reperfusion were higher in rats with IT, notably in the hippocampus. eIF4G levels diminished slightly after ischaemia and reperfusion, paralleling calpain‐mediated α‐spectrin proteolysis in rats with and without IT, but they did not show any further decrease after 30 min reperfusion in rats with IT. The phosphorylated levels of eIF4G, phosphatidylinositol 3‐kinase‐protein B (Akt) and extracellular signal‐regulated kinases (ERKs) were very low after lethal ischaemia and increased following reperfusion. Ischaemic preconditioning did not modify the observed changes in eIF4G phosphorylation. All these results support that translation attenuation may occur through multiple targets. The levels of the glucose‐regulated protein (78 kDa) remained unchanged in rats with and without IT. Conversely, our data establish a novel finding that ischaemia induces strong translation of growth arrest and DNA damage protein 34 (GADD34) after 4 h of reperfusion. GADD34 protein was slightly up‐regulated after preconditioning, besides, as in rats without IT, GADD34 levels underwent a further clear‐cut increase during reperfusion, this time as earlier as 30 min and coincident with translation attenuation.
Operating in the Dark … to See is to Cure
Authors: Worrell Gregory A. 
Published: July 2010

Characteristics and Surgical Outcomes of Patients with Refractory Magnetic Resonance Imaging-Negative Epilepsies. Bien CG, Szinay M, Wagner J, Clusmann H, Becker AJ, Urbach H. Arch Neurol 2009;66(12):1491–1499. Objective To explore several characteristics of patients with pharmacoresistant epilepsy without distinct lesions on magnetic resonance images (MRI-), who account for a relevant proportion of presurgical patient cohorts. Design Retrospective case series. Setting University epilepsy center. Patients A cohort of 1200 patients who had comprehensive presurgical assessment from January 1, 2000, through December 31, 2006. Main Outcome Measures Frequency of MRI- patients in the total presurgical cohort, seizure-free outcome rates in patients who had surgery and those who did not, outcome predictors, and spatial properties of epileptogenic areas in MRI- patients with epilepsy. All MRI- patients were retrospectively analyzed. Presurgical MRIs were reevaluated for subtle cortical dysplasias by postprocessing and visual reassessment. Results One-hundred ninety MRI- patients were identified (16% of all presurgical candidates); 29 (15%) had surgery. Eleven (38%) became seizure free (including those with auras only; 45%). Surgical therapy was more frequently offered to MRI+ patients (76%; P < .001), and their outcome was also superior (66% seizure free; P = .001). The seizure-free rate of 16% in MRI- patients who did not have surgery was, however, inferior to that of the MRI-patients who did ( P = .008). Nine MRI- patients who had surgery had distinct histopathological lesions, 8 of which turned out to be retrospectively detectable on presurgical MRI. Seven of the MRI- but histopathologically lesional patients became seizure free compared with only 4 of 20 patients without histopathological lesions ( P = .003). Three-fifths of the histopathologically nonlesional patients had multifocal or extensive epileptogenic areas. Conclusions Patients with epilepsy who are MRI- can be successfully treated with surgery. Improved sensitivity of MRI will improve the outcomes of presurgically studied patients. Surgical failures in patients without histopathological lesions mostly result from extensive epileptogenic areas.
The Prognostic Value of Combined Fractional Flow Reserve and TIMI Frame Count Measurements in Patients with Stable Angina Pectoris and Acute Coronary Syndrome
Authors: ESEN ALI M. , ACAR GOKSEL , ESEN OZLEM , EMIROGLU YUNUS , AKCAKOYUN MUSTAFA , PALA SELCUK , KARAPINAR HEKIM , KARGIN RAMAZAN , BARUTCU IRFAN , TURKMEN MUHSIN 
Published: July 2010

Background:
The aim of this study was to evaluate the prognostic value of different fractional flow reserve (FFR) cutoff values and corrected thrombolysis in myocardial infarction frame (TIMI) count (CTFC) measurements in a series of consecutive patients with moderate coronary lesions, including patients with unstable angina, myocardial infarction, and/or positive noninvasive functional test findings.
Methods:
We included 162 consecutive coronary patients in whom revascularization of a moderate coronary lesion was deferred based on a FFR value ≥0.75. Patients were divided according to the results of the intracoronary pressure and flow measurements into four groups: group A: 0.75 ≤ FFR ≤ 0.85 and CTFC > 28 (n=22), group B: 0.75 ≤ FFR ≤ 0.85 and CTFC ≤ 28 (n = 55), group C: 0.85 < FFR and CTFC > 28 (n = 19), and group D: 0.85 < FFR and CTFC ≤ 28 (n = 66). Adverse cardiac events and the presence of angina were evaluated at follow‐up.
Results:
At a mean follow‐up of 18 ± 10 months, cardiac event rate in patients with 0.75 ≤ FFR ≤ 0.85 and FFR > 0.85 were 22% and 9%, respectively (P = 0.026) and also, a trend was observed toward a higher cardiac event rate in case of an abnormal CTFC (CTFC > 28) compared to a normal CTFC (24% vs 12%, P = 0.066). Furthermore, a significantly higher cardiac event rate was observed when group A was compared to group D (31.8% vs 7.6%, respectively, P = 0.004).
Conclusion:
Patients with potential microvascular dysfunction and borderline FFR values should be interpreted with caution, and management strategies should be guided not only by pressure measurement, but also by possibly supplementary clinical risk stratification and noninvasive tests. (J Interven Cardiol 2010;23:421–428)
The Sound of Silence: Listening to the Villagers to Learn about Orangutans
Authors: Mengersen Kerrie 
Published: July 2010

Abstract
Orangutans, those shy and gentle primates of Borneo and Sumatra, are iconic of species under threat. Efforts to conserve them have met with little success. But Kerrie Mengersen and her colleagues have brought statistics to bear to provide practical guidance towards saving the creature whose name means “old man of the forests”.
Genomic signatures of fifth autotrophic carbon assimilation pathway in bathypelagic Crenarchaeota
Authors: La Cono Violetta , Smedile Francesco , Ferrer Manuel , Golyshin Peter N. , Giuliano Laura , Yakimov Michail M. 
Published: July 2010

SummaryMarine Crenarchaeota, ubiquitous and abundant organisms in the oceans worldwide, remain metabolically uncharacterized, largely due to their low cultivability. Identification of candidate genes for bicarbonate fixation pathway in the Cenarchaeum symbiosum A was an initial step in understanding the physiology and ecology of marine Crenarchaeota. Recent cultivation and genome sequencing of obligate chemoautotrophic Nitrosopumilus maritimus SCM1 were a major breakthrough towards understanding of their functioning and provide a valuable model for experimental validation of genomic data. Here we present the identification of multiple key components of 3‐hydroxipropionate/4‐hydroxybutyrate cycle, the fifth pathway in carbon fixation, found in data sets of environmental sequences representing uncultivated superficial and bathypelagic Crenarchaeota from Sargasso sea (GOS data set) and KM3 (Mediterranean Sea) and ALOHA (Atlantic ocean) stations. These organisms are likely to use acetyl‐CoA/propionyl‐CoA carboxylase(s) as CO2‐fixing enzyme(s) to form succinyl‐CoA, from which one molecule of acetyl‐CoA is regenerated via 4‐hydroxybutyrate cleavage and another acetyl‐CoA to be the pathway product. The genetic distinctiveness and matching sympatric abundance imply that marine crenarchaeal genotypes from the three different geographic sites share similar ecophysiological properties, and therefore may represent fundamental units of marine ecosystem functioning. To couple results of sequence comparison with the dark ocean primary production, dissolved inorganic carbon fixation rates were measured at KM3 Station (3000 m depth, Eastern Mediterranean Sea), i.e. at the same site and depth used for metagenomic library construction.
Correlation of glycated albumin but not hemoglobin A1c with endogenous insulin secretion in fulminant type 1 diabetes mellitus
Authors: Koga Masafumi , Murai Jun , Saito Hiroshi , Kasayama Soji , Kobayashi Tetsuro , Imagawa Akihisa , Hanafusa Toshiaki ,   the Members of the Japan Diabetes Society’s Committee on Research on Type 1 Diabetes
Published: July 2010

AbstractAims/Introduction:  Fulminant type 1 diabetes mellitus (FT1DM) develops as a result of very rapid and almost complete pancreatic β‐cell destruction. We hypothesized that in patients with FT1DM who have less endogenous insulin secretion, disease progression is more rapid, and thus glycated albumin (GA) levels are lower. This study was designed to prove this hypothesis.Materials and Methods:  The present study included 42 patients with FT1DM (24 men, 18 women) in whom glycated hemoglobin (HbA1c), GA and daily urinary C‐peptide (CPR) were measured at the time of diagnosis. Patients with complications, such as liver disease, kidney disease, anemia, or who were pregnant were excluded.Results:  Urinary CPR (log transformed) was not correlated with HbA1c (R = 0.168, P = 0.287), but was positively correlated with GA (R = 0.336, P = 0.030). It was weakly, but not significantly, correlated with GA/HbA1c ratio (R = 0.281, P = 0.072). In patients with GA < 24.0%, urinary CPR was significantly lower than in patients with GA ≥ 24.0%. In addition, in patients with GA/HbA1c ratio <3.8, urinary CPR was significantly lower than in patients with GA/HbA1c ratio ≥ 3.8.Conclusions:  Our findings suggest that in patients with FT1DM, GA at the time of diagnosis was correlated with endogenous insulin secretion. GA < 24.0% at the time of diagnosis is predictive for less endogenous insulin secretion in patients with FT1DM. (J Diabetes Invest, doi: 10.1111/j.2040‐1124.2010.00050.x, 2010)
Trichotillomania in children: the occult truth
Authors: Anegundi Rajesh T. , Shetty Sheetal D. , Yavagal Chandrashekhar , Pandurangi Anand 
Published: July 2010

AbstractA major emphasis of modern‐day pediatric dental care is a holistic approach to children and the importance of treating them as individuals and not merely as patients with mouth diseases. We should not restrict ourselves to the oral cavity alone, but also explore the mind of an individual, for in it lays the hidden clue to successful management. In order to achieve this, we need to meet the mind of the child before meeting the mouth. Surmounting pressure on today’s children builds a lot of anxiety in them, and this in turn is the foundation for various psychological problems. One such rare but important psychological disorder is “trichotillomania.” The present study is an attempt to provide an insight into this intriguing disorder based on a case report. The signs and symptoms of trichotillomania are discussed, and various management options are outlined.
Linear dimensional accuracy of a polyvinyl siloxane of varying viscosities using different impression techniques
Authors: Mishra Sunil , Chowdhary Ramesh 
Published: July 2010

Abstract Aim:  The present study is an in vitro study to evaluate the linear dimensional accuracy of commercially available polyvinyl siloxanes of varying viscosities using different impression techniques.Methods:  Different impression techniques used were: (a) putty wash, with a two‐step technique with polyethylene spacer, using a stock tray; (b) putty wash, with a one‐step technique, using a stock tray; (c) single‐mix technique, utilizing medium viscosity in a custom tray; and (d) multiple‐mix technique, utilizing a heavy‐ and low‐viscosity combination in a custom tray. For each technique, 10 impressions were made of a metallic maxillary dentulous master model.Results:  The result of this study dictates that a heavy‐ and low‐viscosity combination, double‐mix technique in a custom tray produced an accurate result in all dimensions, followed by the single‐mix technique, utilizing medium viscosity in a custom tray, and the putty wash two‐step technique with polyethylene spacer, using a stock tray. Group 2 putty wash, one‐step, simultaneous technique produced the least accurate result in all dimensions.Conclusion:  The putty wash two‐step techniques were found to be as accurate as the multiple‐mix technique, utilizing a heavy‐ and low‐viscosity combination in a custom tray, and the single‐mix technique, utilizing medium viscosity in a custom tray. Making custom trays is time consuming and costly.
A method for measuring the relative information content of data from different monitoring protocols
Authors: Munson M. Arthur , Caruana Rich , Fink Daniel , Hochachka Wesley M. , Iliff Marshall , Rosenberg Kenneth V. , Sheldon Daniel , Sullivan Brian L. , Wood Christopher , Kelling Steve 
Published: July 2010

Summary1. Species monitoring is an essential component of assessing conservation status, predicting effects of habitat change and establishing management and conservation priorities. The pervasive access to the Internet has led to the development of several extensive monitoring projects that engage massive networks of volunteers who provide observations following relatively unstructured protocols. However, the value of these data is largely unknown. 2. We develop a novel cross‐data validation method for measuring the value of survey data from one source (e.g. an Internet checklist program) relative to a second, benchmark data source. The method fits a model to the data of interest and validates the model using benchmark data, allowing us to isolate the training data's information content from its biases. We also define a data efficiency ratio to quantify the relative efficiency of the data sources. 3. We apply our cross‐data validation method to quantify the value of data collected in eBird – a western hemisphere, year‐round citizen science bird checklist project – relative to data from the highly standardized North American Breeding Bird Survey (BBS). The results show that eBird data contain information similar in quality to that in BBS data, while the information per BBS datum is higher. 4. We suggest that these methods have more general use in evaluating the suitability of sources of data for addressing specific questions for taxa of interest.
THE ${\mathcal R}$- AND ${\mathcal L}$-ORDERS OF THE THOMPSON–HIGMAN MONOID Mk, 1 AND THEIR COMPLEXITY
Authors: BIRGET JEAN-CAMILLE 
Published: July 2010

We study the monoid generalization Mk, 1 of the Thompson–Higman groups, and we characterize the [Formula: see text]- and the [Formula: see text]-order of Mk, 1. Although Mk, 1 has only one nonzero [Formula: see text]-class and k-1 nonzero [Formula: see text]-classes, the [Formula: see text]- and the [Formula: see text]-order are complicated; in particular, [Formula: see text] is dense (even within an [Formula: see text]-class), and [Formula: see text] is dense (even within an [Formula: see text]-class). We study the computational complexity of the [Formula: see text]- and the [Formula: see text]-order. When inputs are given by words over a finite generating set of Mk, 1, the [Formula: see text]- and the [Formula: see text]-order decision problems are in P. However, over a "circuit-like" generating set the [Formula: see text]-order decision problem of Mk, 1 is [Formula: see text]-complete, whereas the [Formula: see text]-order decision problem is coNP-complete. Similarly, for acyclic circuits the surjectiveness problem is [Formula: see text]-complete, whereas the injectiveness problem is coNP-complete.
The Role of Broca's Area in Sentence Comprehension
Authors: Rogalsky Corianne , Hickok Gregory 
Published: July 2010

AbstractThe role of Broca's area in sentence processing has been debated for the last 30 years. A central and still unresolved issue is whether Broca's area plays a specific role in some aspect of syntactic processing (e.g., syntactic movement, hierarchical structure building) or whether it serves a more general function on which sentence processing relies (e.g., working memory). This review examines the functional organization of Broca's area in regard to its contributions to sentence comprehension, verbal working memory, and other multimodal cognitive processes. We suggest that the data are consistent with the view that at least a portion of the contribution of Broca's area to sentence comprehension can be attributed to its role as a phonological short-term memory resource. Furthermore, our review leads us to conclude that there is no compelling evidence that there are sentence-specific processing regions within Broca's area.