bluuebunny/crossref_metadata_2025_split huggingface dataset:
A new Italian FHM2 family: Clinical aspects and functional analysis of the disease-associated mutation
Authors: Santoro Lucio , Manganelli Fiore , Fortunato Maria Roberta , Soldovieri Maria Virginia , Ambrosino Paolo , Iodice Rosa , Pisciotta Chiara , Tessa Alessandra , Santorelli Filippo , Taglialatela Maurizio 
Published: March 2011

Objective: To describe a new FHM kindred, and to analyse the functional consequences of the disease-associated ATP1A2 p.G301R mutation in human cellular models grown at 37°C. Patients and methods: Seven patients were clinically evaluated and gave informed consent for molecular analysis. Extra-pyramidal rigidity of the limbs was present in four subjects and in three of them tongue apraxia was also observed. ATP1A2 and CACNA1A were analysed by direct sequencing. Functional consequences of the mutation were investigated by cell viability assays, Western blots, and immunocytochemistry. Three-dimensional models of the human Na+/K+-ATPase α2 subunit were generated by homology modelling using SWISS-MODEL. Findings: Analysis of ATP1A2 showed a heterozygous mutation, c.901G>A predicting the replacement of arginine for glycine at residue 301 (p.G301R). Functional analysis suggested that the mutation completely abolished Na+/K+-ATPase function. Conclusions: The phenotypic spectrum of our FHM2 family includes some peculiar features. Functional data confirm that Na+/K+-ATPase haploinsufficiency caused by the ATP1A2 p.G301R mutation is responsible for FHM in the described family.
Preoperative Analysis of the Hill-Sachs Lesion in Anterior Shoulder Instability
Authors: Cho Seung Hyun , Cho Nam Su , Rhee Yong Girl 
Published: March 2011

Background: It has been reported that engagement of the Hill-Sachs lesion affects postoperative recurrence of anterior shoulder instability. However, no method has been recognized as an effective preoperative means to predict engagement of the Hill-Sachs lesion. Purpose: This study was undertaken to assess the diagnostic validity of computed tomography (CT) with 3-dimensional (3D) reconstruction to judge engagement of the Hill-Sachs lesion preoperatively. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: One hundred four consecutive patients (107 shoulders) who underwent arthroscopic Bankart repair for traumatic anterior shoulder instability were enrolled for this study. Preoperatively, CT with 3D reconstruction was performed on all patients to evaluate the size (width and depth measured on axial and coronal images), orientation (Hill-Sachs angle), and location (bicipital and vertical angles) of the Hill-Sachs lesion. Dynamic arthroscopic examination was made to confirm engagement of the Hill-Sachs lesion. Then the correlation between the results and measurements on CT images was statistically analyzed. Results: In cases of engaging lesions, the mean width was 52% (range, 27%-66%) and the mean depth was 14% (range, 8%-20%) of the humeral head diameter on axial images. The corresponding measurements on coronal images were 42% (range, 16%-67%) and 13% (range, 5%-24%), respectively. In cases of nonengaging lesions, the corresponding measurements were 40% (range, 0%-71%) and 10% (range, 0%-21%) on axial images and 31% (range, 0%-62%) and 11% (range, 0%-46%) on coronal images. The size of engaging Hill-Sachs lesions was significantly larger than that of nonengaging lesions on both axial and coronal images ( P = .001, < .001, .012, .007). The Hill-Sachs angle was 25.6° ± 7.4° in engaging lesions, which was significantly larger than 13.8° ± 6.2° in nonengaging lesions ( P < .001). The bicipital and vertical angles did not demonstrate significant correlation with engagement of the Hill-Sachs lesion ( P = .850, .584). Conclusion: On CT with 3D reconstruction images, the engaging Hill-Sachs lesions were larger in size and more horizontally oriented to the humeral shaft than nonengaging lesions. The authors concluded that preoperative prediction of the engagement of the Hill-Sachs lesion, based on these findings, would be useful in planning additional procedures to treat a significant bone defect on the humeral head.
Sympathetic and angiotensinergic responses mediated by paradoxical sleep loss in rats
Authors: Perry Juliana C , Bergamaschi Cássia T , Campos Ruy R , Andersen Monica L , Montano Nicola , Casarini Dulce E , Tufik Sergio 
Published: March 2011

Introduction: Recent investigations over the past decade have linked the development of hypertension to sleep loss, although the mechanisms underlying this association are still under scrutiny. To determine the relationship between sleep deprivation and cardiovascular dysfunction, we examined the effects of paradoxical sleep deprivation on heart rate, blood pressure, sympathetic nerve activity (SNA) and their consequences in the blood renin—angiotensin system. Materials and methods: Wistar-Hannover male rats were randomly assigned to three experimental groups: 1) control, 2) paradoxical sleep deprivation for 24 h and 3) paradoxical sleep deprivation for 96 h. Blood pressure and heart rate were recorded in awake, freely moving rats. Results: Heart rate was higher in the 96 h paradoxical sleep deprivation group compared with the control group. Renal SNA was increased in all deprived groups. However, no significant statistical differences were observed in blood pressure or splanchnic SNA among groups. Paradoxical sleep deprivation (24 and 96 h) reduced plasma angiotensin II (Ang II) concentrations. Conclusions: The results suggest that selective sleep deprivation produces an increase in SNA, preferentially in the kidney. Thus, alterations in the sympathetic system in response to sleep loss may be an important pathway through which hypertension develops.
Quality of Life and Functional Status After Revascularization or Conservative Treatment in Patients With Intermittent Claudication
Authors: Hedeager Momsen Anne-Mette , Bach Jensen Martin , Norager Charlotte Buchard , Roerbæk Madsen Mogens , Vestersgaard- Andersen Torben , Lindholt Jes Sanddal 
Published: March 2011

Revascularization of patients with intermittent claudication (IC) is recommended only for selected patients who have chronic pain or disabling disease. However, improvement in the quality of life (QoL) could justify more widespread use. Objectives: To determine the effect of conservative treatment and revascularization on the QoL and physical performance of selected patients with IC. Patients and Methods: This nonrandomized, parallel group, follow-up study included 83 patients with IC at Fontaine stage II. On the basis of interventional opportunities and the risks and benefits, combined with the preference of the patient, 47 patients were treated conservatively and 41 were revascularized. The patients were examined at inclusion and 3 months later. The evaluations included the QoL measure Short Form 36 (SF-36), the Walking Impairment Questionnaire (WIQ), pain-free and maximal walking distance (treadmill at 3 km/h, no incline), maximal isometric knee-extension strength and endurance, and ankle—brachial blood pressure index (ABI). Results: At baseline, the SF-36 and WIQ scores and the ABI were significantly lower in the patients selected for revascularization. After revascularization, all dimensions of QoL and functional status increased significantly in the patients who underwent revascularisation compared with the patients treated conservatively. The difference in the change in the physical component summary of SF-36 was 29.4% (P < .001), in the total WIQ 63.6% (P = .0002), and in the pain-free and maximal walking distances 313% (P < .001) and 135% (P < .001), respectively. After adjustment for age, smoking, ABI, body mass index (BMI), and baseline values, the differences remained statistically significant. Conclusion: Revascularization above the knee increased QoL, functional status, and walking distance significantly in patients with moderate IC.
Update on JAK2 inhibitors in myeloproliferative neoplasm
Authors: Chan Daniel , Koren-Michowitz Maya 
Published: March 2011

Since the discovery of mutant Janus Kinase 2 ( JAK2), JAK2V617F, in a major proportion of myeloproliferative neoplasm (MPN) patients, there has been a flurry of activity in the development of JAK2 inhibitors. Pan-JAK, predominantly JAK2 and off-target JAK2 inhibitors have been developed in the short span of the past 5 years. These compounds have since been tested to varying success in both in vitro and in vivo settings with several proceeding on to advanced clinical trials. Although it was hoped that these inhibitors would be the silver bullet in the manner than imatinib was to chronic myeloid leukemia, it is becoming apparent that this is not the case for various reasons, chief of which is that a significant reduction of the underlying pathogenic clone is not achieved. In fact, the very notion that the target of JAK2 inhibitors (be it pan-JAK or JAK2 specific) is the mutant JAK2V617F is being challenged with findings from several clinical trials showing a poor correlation between the reduction in JAK2V617F mutant allele burden and clinical response. In view of this, it is not surprising that several groups are now investigating combinations of JAK2 inhibitors and other agents in MPN. Although much knowledge has been added in this short span of time, it is apparent that our understanding of the role of JAK2 inhibitors in the treatment scheme of MPN is only beginning.
Kinetics and intracellular compartmentalization of HTLV-1 gene expression: nuclear retention of HBZ mRNAs
Authors: Rende Francesca , Cavallari Ilaria , Corradin Alberto , Silic-Benussi Micol , Toulza Frederic , Toffolo Gianna M. , Tanaka Yuetsu , Jacobson Steven , Taylor Graham P. , D'Agostino Donna M. , Bangham Charles R. M. , Ciminale Vincenzo 
Published: March 2011

AbstractHuman T-cell leukemia virus type 1 (HTLV-1) codes for 9 alternatively spliced transcripts and 2 major regulatory proteins named Tax and Rex that function at the transcriptional and posttranscriptional levels, respectively. We investigated the temporal sequence of HTLV-1 gene expression in primary cells from infected patients using splice site-specific quantitative RT-PCR. The results indicated a two-phase kinetics with the tax/rex mRNA preceding expression of other viral transcripts. Analysis of mRNA compartmentalization in cells transfected with HTLV-1 molecular clones demonstrated the strict Rex-dependency of the two-phase kinetics and revealed strong nuclear retention of HBZ mRNAs, supporting their function as noncoding transcripts. Mathematical modeling underscored the importance of a delay between the functions of Tax and Rex, which was supported by experimental evidence of the longer half-life of Rex. These data provide evidence for a temporal pattern of HTLV-1 expression and reveal major differences in the intracellular compartmentalization of HTLV-1 transcripts.
Do reactive oxygen species play a role in myeloid leukemias?
Authors: Hole Paul Spencer , Darley Richard Lawrence , Tonks Alex 
Published: March 2011

AbstractReactive oxygen species (ROS) are a heterogeneous group of molecules that are generated by mature myeloid cells during innate immune responses, and are also implicated in normal intracellular signaling. Excessive production of ROS (and/or a deficiency in antioxidant pathways) can lead to oxidative stress, a state that has been observed in several hematopoietic malignancies including acute and chronic myeloid leukemias (AML and CML). Currently it is unclear what the cause of oxidative stress might be and whether oxidative stress contributes to the development, progression, or maintenance of these diseases. This article reviews the current evidence suggesting a role for ROS both in normal hematopoiesis and in myeloid leukemogenesis, and discusses the usefulness of therapeutically targeting oxidative stress in myeloid malignancy.
Interferon-γ-secreting NK cells promote induction of dry eye disease
Authors: Chen Yihe , Chauhan Sunil K , Saban Daniel R , Sadrai Zahra , Okanobo Andre , Dana Reza 
Published: March 2011

ABSTRACTNK cells have been increasingly reported to be an important effector in autoimmune diseases. However, nothing is known in this regard in DED, the most common eye pathology, which is characterized by sustained inflammation on the ocular surface. In the present study, we have examined the profile of NK cells on the ocular surface as well as in the draining lymphoid tissues during the development of this disease. Our data demonstrate activated NK cells during the disease-induction phase. Moreover, in vivo depletion of NK cells in mice results in reduced disease severity and diminished proinflammatory cytokines. Furthermore, we show that NK cells are also able to modulate the maturation of APCs, which is correlated with IFN-γ from NK cells. Together, our findings provide new in vivo evidence that IFN-γ-secreting NK cells can promote induction of DED via direct target tissue damage and indirect influence on the priming phase of an adaptive immune response in secondary lymphoid tissue.
A Systematic Analysis of Aromatic Heterocyclic Rings in Solvatochromic Fluorophores
Authors: Son Sang-Hyun , Abe Yuko , Yuasa Maiko , Yamagishi Yutaka , Sakai Naoki , Ayabe Tokiyoshi , Yamada Koji 
Published: March 2011

Abstract
The Suzuki–Miyaura cross-coupling was found to be effective for the modification of aromatic heterocyclic rings in solvatochromic fluorophores, thereby providing quantitative evaluation of the ring effects on photophysical properties. The effect of heteroatom, a β-substituent, and the number of rings in the aromatic moiety were investigated systematically.
High-yield Production of cis,cis-Muconic Acid from Catechol in Aqueous Solution by Biocatalyst
Authors: Kaneko Aya , Ishii Yoshitaka , Kirimura Kohtaro 
Published: March 2011

Abstract
A fed-batch process was used to produce cis,cis-muconic acid from catechol by recombinant Escherichia coli cells expressing the catA gene, which encodes the Pseudomonas putida mt-2 catechol 1,2-dioxygenase responsible for catalyzing ortho-cleavage of catechol, as biocatalysts. We succeeded in producing 415 mM (59.0 g L−1) cis,cis-muconic acid in aqueous solution without generation of by-products in 12 h under the optimal conditions with successive addition of 10 mM catechol. The molar conversion yield based on the amount of consumed catechol was the theoretical value of 100% (mol mol−1).
Enantioselective Pervaporation through Membranes from Poly(1,3-phenyleneethynylene)-based One-handed Helical Foldamer and Unfoldamer
Authors: Inoue Makoto , Teraguchi Masahiro , Aoki Toshiki , Namikoshi Takeshi , Marwanta Edy , Kaneko Takashi 
Published: March 2011

Abstract
We synthesized two kinds of poly(1,3-phenyleneethynylenes), one has (+)-menthoxycarbonyl groups at all repeating units and the other has (+)-menthoxycarbonyl groups and n-dodecyloxy groups alternately. Self-supporting membranes could be obtained easily by solvent casting. Enantioselective permeations of the polymers were investigated by pervaporation of 2-butanol. Enantioselective permeabilities of the membrane consisting of one-handed helical foldamer and unfoldamer were clarified.
Improved Adsorption of Basic Protein on Hydroxyapatite Nanoparticles Synthesized Using a Lamellar Template of Sodium Dodecylphosphate
Authors: Nakagawa Keizo , Umezaki Yosuke , Kitamura Kaori , Sotowa Ken-Ichiro , Sugiyama Shigeru 
Published: March 2011

Abstract
We synthesized hydroxyapatite (HAp) nanoparticles using a lamellar phase, which was formed using a phosphorous surfactant, sodium dodecylphosphate (SDP). The HAp nanoparticles synthesized using SDP, after calcination, adsorbed more egg white lysozyme compared to that synthesized without SDP.
Synthesis and Optical Properties of Co-doped ZnO Nanoparticles
Authors: Zhu Luping , Yang Yang , Bing Naici 
Published: March 2011

Abstract
Pure and Co-doped ZnO nanoparticles were synthesized by a sol–gel method. The structure, morphology, and properties of as-prepared samples have been studied using X-ray diffraction (XRD), transmission electron microscopy (TEM), energy dispersive spectroscopy (EDS), and ultraviolet–visible absorption spectroscopy (UV–vis) as well as by photoluminescence (PL) spectrometry. The results showed that the diameter of the well-dispersed Co-doped ZnO nanoparticles is about 5 nm and that dopant Co2+ ions substitute Zn2+ ions sites in ZnO nanocrystals without forming any secondary phase. The optical measurements show that the Co doping can effectively tune energy band structure and enrich surface states in both UV and VL regions, which lead to novel PL properties of ZnO nanoparticles. Compared to the undoped sample, a new emission caused by transitions between localized Co2+ d levels appears at 624 nm.
Switching Reaction Pathways of Benzo[b]thiophen-3-yllithium and Benzo[b]furan-3-yllithium Based on High-resolution Residence-time and Temperature Control in a Flow Microreactor
Authors: Asai Tatsuro , Takata Atsushi , Ushiogi Yousuke , Iinuma Yoshiharu , Nagaki Aiichiro , Yoshida Jun-ichi 
Published: March 2011

Abstract
Reaction-pathway control of benzo[b]thiophen-3-yllithium and benzo[b]furan-3-yllithium was accomplished in flow microreactor systems. We could switch between the reaction with an electrophile before ring-opening and that after ring-opening at will by choosing an appropriate residence-time and temperature.
Nickel-catalyzed Dehydrobrominative Polycondensation for the Practical Preparation of Regioregular Poly(3-substituted thiophene)s
Authors: Tamba Shunsuke , Tanaka Shota , Okubo Youhei , Meguro Hikaru , Okamoto Shuji , Mori Atsunori 
Published: March 2011

Abstract
Poly(3-hexylthiophene) was synthesized by the polycondensation of 2-bromo-3-hexylthiophene with a nickel catalyst and (2,2,6,6-tetramethylpiperidin-1-yl)magnesium. The polymerization proceeded at room temperature in a highly regioregular manner.
Effect of NT-proBNP testing on diagnostic certainty in patients admitted to the emergency department with possible heart failure
Authors: Robaei Daniel , Koe Lisa , Bais Renze , Gould Irene , Stewart Tanya , Tofler Geoffrey H 
Published: March 2011

Background Difficulty in distinguishing congestive heart failure (HF) from other causes of dyspnoea in the emergency department (ED) may result in delay in appropriate treatment and referral. Although the diagnostic value of serum amino-terminal pro-B-type natriuretic peptide (NT-proBNP) is well documented, the impact on diagnostic certainty of providing these results to ED physicians is not well studied. We sought to determine the effect of providing NT-proBNP results on diagnostic certainty of physicians managing patients presenting to the ED with suspected HF. Methods A randomized controlled study was conducted in 68 patients presenting to the ED with dyspnoea. ED clinicians initially rated the probability of HF as the cause of dyspnoea without the knowledge of the result. A scale of 1–7 was used, with 1 representing a high degree of certainty of a diagnosis other than HF and 7 representing a high degree of certainty of HF being the cause of dyspnoea. In 38 patients, the ED physician then reassessed the probability of HF as the cause of dyspnoea after receiving the NT-proBNP result. A cardiologist blinded to the NT-proBNP result determined the final diagnosis after review of medical records and investigations. Results Providing the NT-proBNP result reduced diagnostic uncertainty, defined as a test score of 3–5, from 66% of cases to 18% of cases ( P < 0.0001) and improved diagnostic accuracy from 53% to 71% ( P = 0.016). Conclusion Measurement of NT-proBNP concentrations reduces diagnostic uncertainty and improves diagnostic accuracy in patients presenting to the ED with dyspnoea and possible HF.
Centrifugation protocols: tests to determine optimal lithium heparin and citrate plasma sample quality
Authors: Dimeski Goce , Solano Connie , Petroff Mark K , Hynd Matthew 
Published: March 2011

Background Currently, no clear guidelines exist for the most appropriate tests to determine sample quality from centrifugation protocols for plasma sample types with both lithium heparin in gel barrier tubes for biochemistry testing and citrate tubes for coagulation testing. Methods Blood was collected from 14 participants in four lithium heparin and one serum tube with gel barrier. The plasma tubes were centrifuged at four different centrifuge settings and analysed for potassium (K+), lactate dehydrogenase (LD), glucose and phosphorus (Pi) at zero time, poststorage at six hours at 21 °C and six days at 2–8°C. At the same time, three citrate tubes were collected and centrifuged at three different centrifuge settings and analysed immediately for prothrombin time/international normalized ratio, activated partial thromboplastin time, derived fibrinogen and surface-activated clotting time (SACT). Results The biochemistry analytes indicate plasma is less stable than serum. Plasma sample quality is higher with longer centrifugation time, and much higher g force. Blood cells present in the plasma lyse with time or are damaged when transferred in the reaction vessels, causing an increase in the K+, LD and Pi above outlined limits. The cells remain active and consume glucose even in cold storage. The SACT is the only coagulation parameter that was affected by platelets >10 × 109/L in the citrate plasma. Conclusion In addition to the platelet count, a limited but sensitive number of assays (K+, LD, glucose and Pi for biochemistry, and SACT for coagulation) can be used to determine appropriate centrifuge settings to consistently obtain the highest quality lithium heparin and citrate plasma samples. The findings will aid laboratories to balance the need to provide the most accurate results in the best turnaround time.
Circulating Inflammatory and Endothelial Markers and Risk of Hypertension in White and Black Postmenopausal Women
Authors: Wang Lu , Manson JoAnn E , Gaziano J Michael , Liu Simin , Cochrane Barbara , Cook Nancy R , Ridker Paul M , Rifai Nader , Sesso Howard D 
Published: March 2011

BACKGROUND
Systemic inflammation and endothelial activation are implicated in the development of hypertension. However, epidemiologic studies have yet to compare multiple corresponding biomarkers in relation to risk of hypertension, particularly in multiethnic populations.

METHODS
We identified 800 individuals with incident hypertension and 800 matched controls, each group with equal numbers of white and black women, in a nested case-control study within the Women's Health Initiative Observational Study. We measured markers of inflammation [high-sensitivity C-reactive protein (hsCRP), interleukin (IL)-6, IL-1β, tumor necrosis factor receptor 2 (TNF-r2)] and endothelial activation [soluble intercellular adhesion molecule-1 (sICAM-1)] in baseline blood samples.

RESULTS
Before adjustment for measures of adiposity, higher hsCRP and IL-6 concentrations were associated with increased risk of hypertension in both white and black women, higher TNF-r2 was associated with increased risk of hypertension in black women only, and IL-1β and sICAM-1 were not associated with risk of hypertension. All the positive associations were attenuated after adjustment for body mass index. The resulting multivariable-adjusted relative risks (95% CI) of hypertension comparing the highest vs lowest quartile were 1.52 (0.94–2.48) and 1.23 (0.76–1.97) for hsCRP and IL-6 in white women and 1.30 (0.81–2.07), 1.58 (0.96–2.59), and 1.49 (0.94–2.36) for hsCRP, IL-6, and TNF-r2 in black women. The results after adjustment for waist circumference were similar.

CONCLUSIONS
After adjustment for measures of adiposity, there was no significant association of hsCRP, IL-6, IL-1β, TNF-r2, or sICAM-1 with incident hypertension in either white or black women. The interrelationships between inflammation and adiposity in development of hypertension need further investigation.