bluuebunny/crossref_metadata_2025 huggingface dataset:
Pitx2 regulates myosin heavy chain isoform expression and multi‐innervation in extraocular muscle
Authors: Zhou Yuefang , Liu Dan , Kaminski Henry J
Published: July 2011

Non‐Technical Summary  The visual system requires the generation of a variety of eye movements ranging from extremely rapid saccades to slow pursuit movements which all necessitate great precision and fatigue resistance. The extraocular muscles, which are the final generators of eye movements, must be adapted to fulfill these expectations. Therefore, it is not surprising that these muscles contain a diversity of myosin heavy chains, which specify the contraction speed of a muscle. Here, we show the transcription factor Pitx2 is critical in the establishment of the mature myosin heavy chain composition of extraocular muscle. We also demonstrate the absence of Pitx2 after birth leads to the loss of multi‐innervation, a unique feature of the adult extraocular muscle phenotype. Knowledge of how expression of contractile proteins is regulated and their influence on eye movements may lead to potential therapeutics for strabismus and other disorders of ocular motility.
Frontal cerebral cortex blood flow, oxygen delivery and oxygenation during normoxic and hypoxic exercise in athletes
Authors: Vogiatzis Ioannis , Louvaris Zafeiris , Habazettl Helmut , Athanasopoulos Dimitris , Andrianopoulos Vasilis , Cherouveim Evgenia , Wagner Harrieth , Roussos Charis , Wagner Peter D. , Zakynthinos Spyros
Published: July 2011

Non‐technical summary  Exercise capacity is limited at high altitude where hypoxia (i.e. decreased amount of inspired oxygen resulting in decreased oxygen in the blood) is present, but it is unknown whether a reduction in the oxygen delivered to the brain constitutes the signal to the brain to prematurely terminate exercise. We show that during hypoxic exercise equivalent to exercise at ∼4000 m above sea‐level, the oxygen delivered to the brain during intense exercise is ∼60% less than that delivered to the brain at comparable exercise intensity at sea‐level. These results show that reduction in the oxygen delivered to the brain could constitute the signal to limit maximal exercise capacity in hypoxia, and help us understand better why exercise capacity is limited at high altitude. Moreover, a plausible mechanism of exercise limitation in patients who present decreased oxygen in the blood during exercise due to pulmonary and/or cardiac disease is revealed.
Intracellular energy status regulates activity in hypocretin/orexin neurones: a link between energy and behavioural states
Authors: Liu Zhong‐Wu , Gan Geliang , Suyama Shigetomo , Gao Xiao‐Bing
Published: July 2011

Non‐technical summary  A growing body of evidence has shown that energy status has a significant impact on the behavioural states in animals and that the availability of nutrients (energy state) in the brain may modulate animal behaviours. In this study, we report that the intracellular energy stores determine activity in a selective group of nerve cells (hypocretin‐containing neurones) in the brain. The unique energy state of hypocretin neurones correlates with behavioural states of animals, i.e. the energy level is low during sleep and high during wakefulness. These results suggest that hypocretin neurones may act as an ‘energy gauge’ in the brain, which integrates nutritional, energetic and behavioural signals critical for the survival of animals.
Identification of a Lysosomal Pathway That Modulates Glucocorticoid Signaling and the Inflammatory Response
Authors: He Yuanzheng , Xu Yong , Zhang Chenghai , Gao Xiang , Dykema Karl J. , Martin Katie R. , Ke Jiyuan , Hudson Eric A. , Khoo Sok Kean , Resau James H. , Alberts Arthur S. , MacKeigan Jeffrey P. , Furge Kyle A. , Xu H. Eric
Published: July 2011

Inhibition of lysosome function promotes the anti-inflammatory effects of glucocorticoid signaling.
Science Signaling
Podcast: 5 July 2011
Authors: He Yuanzheng , VanHook Annalisa M.
Published: July 2011

The anti-inflammatory effects of chloroquine are mediated by inhibition of the lysosome, which enhances glucocorticoid signaling.
Evading Death
Authors: Wong Wei
Published: July 2011

Sialylation of Fas may enable colon carcinoma cells to evade apoptosis.
Validation of the Intact Zwittermicin A Biosynthetic Gene Cluster and Discovery of a Complementary Resistance Mechanism in Bacillus thuringiensis
Authors: Luo Yi , Ruan Li-Fang , Zhao Chang-Ming , Wang Cheng-Xian , Peng Dong-Hai , Sun Ming
Published: July 2011

Zwittermicin A (ZmA) is a hybrid polyketide-nonribosomal peptide produced by certain
Bacillus cereus
group strains. It displays broad-spectrum antimicrobial activity. Its biosynthetic pathway in
B. cereus
has been proposed through analysis of the nonribosomal peptide synthetase (NRPS) and polyketide synthase (PKS) modules involved in ZmA biosynthesis. In this study, we constructed a bacterial artificial chromosome (BAC) library from
Bacillus thuringiensis
subsp.
kurstaki
strain YBT-1520 genomic DNA. The presence of known genes involved in the biosynthesis of ZmA in this BAC library was investigated by PCR techniques. Nine positive clones were identified, two of which (covering an approximately 60-kb region) could confer ZmA biosynthesis ability upon
B. thuringiensis
BMB171 after simultaneous transfer into this host by two compatible shuttle BAC vectors. Another previously unidentified gene cluster, named
zmaWXY
, was found to improve the yield of ZmA and was experimentally defined to function as a ZmA resistance transporter which expels ZmA from the cells. Putative transposase genes were detected on the flanking regions of the two gene clusters (the ZmA synthetic cluster and
zmaWXY
), which suggests a mobile nature of these two gene clusters. The intact ZmA gene cluster was validated, and a resistance mechanism complementary to that for
zmaR
(the previously identified ZmA self-resistance gene) was revealed. This study also provided a straightforward strategy to isolate and identify a huge gene cluster from
Bacillus
.
Comparison of the characteristics of fire and non-fire households in the 2004–2005 survey of fire department-attended and unattended fires
Authors: Greene Michael A
Published: July 2011

Objective

Comparison of characteristics of fire with non-fire households to determine factors differentially associated with fire households (fire risk factors).

Design, setting and subjects

National household telephone survey in 2004–2005 by the US Consumer Product Safety Commission with 916 fire households and a comparison sample of 2161 non-fire households. There were an estimated 7.4 million fires (96.6% not reported to fire departments) with 130 000 injuries.

Main outcome measure

Bivariate analysis and multivariate logistic regression analyses to assess differences in household characteristics.

Results

Significant factors associated with fire households were renting vs. owning (OR 1.988 p<0.0001); household members under 18 year of age (OR 1.277 p<0.0001); lack of residents over 64 years old (OR 0.552 p=0.0007); and college or higher education (some college OR 1.444 p=0.0360, college graduate OR 1.873, p<0.0001, postgraduate OR 2.156 p<0.0001). Not significant were age of house; race; ethnicity; and income. Number of smokers was borderline significant (OR 1.132 p=0.1019) but was significant in the subset of fire households with non-cooking fires (OR 1.383 p=0.0011). Single family houses were associated with non-fire households in the bivariate analysis but not in the multivariate analyses.

Conclusion

Renting, household members under 18 years old and smokers are risk factors for unattended fires, similar to the literature for fatal and injury fires. Differences included household members over 65 years old (associated with non-fire households), college/postgraduate education (associated with fire households) and lack of significance of income. Preventing cooking fires (64% of survey incidents), smoking prevention efforts and fire prevention education for families with young children have the potential for reducing unattended fires and injuries.
EFFECT OF CORE STABILIZATION TRAINING ON THE LOWER BACK ENDURANCE IN RECREATIONALLY ACTIVE INDIVIDUALS
Authors: Aggarwal Anoop , Kumar Suraj , Kumar Dharmendar
Published: July 2011

Purpose: The objective of the present study is to evaluate the effect of the lumbar core stabilization training on the lower trunk endurance performance among recreationally active players. Methods: This study is a randomized controlled trial in which 40 recreationally active subjects aged 18–27 years were equally alloted into two groups. One group was the control group, which received no intervention, and other group was the experimental group, which received lumbar core stabilization training of six-week duration. Lower trunk endurance performance was assessed using "time" (in seconds) as the dependent variable according to the various clinical tests such as Sorensen test, Plank tests (prone, right side, left side) and abdominal fatigue test. All test performance was done at day zero (pre-test) and after six weeks (post-test). Data were analyzed by independent t-test for between group comparison and paired t-test for within group comparison. Result: The finding of this study is that core stabilization training significantly improved (p ≤ 0.05) for the lower trunk endurance performance. Control group did not show any significant improvement in lower trunk endurance performance. Conclusion: This study concludes that core stability training leads to improvement in the lower trunk endurance performance.
CONGENITAL NEUROMUSCULAR DISEASE WITH UNIFORM TYPE-1 FIBERS SIMULTANEOUSLY PRESENTING GLUTEAL MUSCLES CONTRACTURE AND BRAIN ATROPHY: A CASE REPORT
Authors: Li Xihua , Zhang Jing , Cui Xuee , Zhao Lei , Shen Pinquan , Zhao Li
Published: July 2011

We report the clinical presentation and pathological findings of congenital neuromuscular disease with uniform type-1 fibers presenting on an 11-year-old girl with the clinical diagnosis of unilateral (right-side) gluteal contracture and brain atrophy. CT image showed that right gluteus maximus muscle was atrophic. Brain MRI showed mild bilateral ventricular dilation and widening of the lateral fissure. A biopsy of quadriceps muscle revealed only uniformity of type-1 fibers with the absence of cores, and mild decrease of activity on oxidative enzyme staining. Although the exact cause of congenital gluteal muscle contracture is still not clear, we presume that the congenital gluteal muscle contracture may be caused by the neuromuscular disease with uniform type-1 fibers and this is the first case report of neuromuscular disease with uniform type-1 fibers complicated with brain atrophy in China.
The Impact of Warrant Introduction: The Australian Experience
Authors: Clarke Michael , Gannon Gerard , Vinning Russell
Published: July 2011

The main purpose of this paper is to examine the impact that the introduction of exchange traded derivative warrants has on the underlying securities' price, volume and volatility in the Australian market. The impact that derivative trading has on the underlying security is essential to our understanding of security market behaviour and important in the fields of market efficiency and pricing of derivatives. The major findings of significant negative abnormal returns, reduction in skewness, no change in beta and small changes in variance are consistent with recent research findings in the US, UK and Hong Kong. However, the findings of derivative warrant listing resulting in decreased trading volume is in contrast with most prior research in the field. The results of this research, showing a negative price impact, decreased volume and no change in risk, and other recent empirical findings such as Mayhew and Mihov (2000) or Faff and Hillier (2003), indicate a requirement for further development of the theoretical frameworks.
Hot and Cold Strategies: Australian Evidence
Authors: Ramiah Vikash , Mugwagwa Tafadzwa , Naughton Tony
Published: July 2011

The main purpose of this paper is to explore a high-frequency tactical asset allocation strategy. In particular, we investigate the profitability of momentum trading and contrarian investment strategies for equities listed on the Australian Stock Exchange (ASX). In these two strategies we take into consideration the short-selling restrictions imposed by the ASX on the stocks used. Within our sample portfolios we look at the relationship between stock returns and past trading volume for these equities. This research also investigates the seasonal aspects of contrarian portfolios and observes weekly, monthly and yearly effects. We report significant contrarian profits for the period investigated (from 2001 to 2006) and show that contrarian profit is a persistent feature for the strategies examined. We also document that contrarian portfolios earn returns as high as 6.54% per day for portfolios with no short-selling restrictions, and 4.71% in the restricted model. The results also support the view that volume traded affects stock returns, and show that market imperfections such as short-selling restrictions affect investors' returns.
MBAR Models: A Test of ARIMAX Modelling
Authors: Maggina Anastasia
Published: July 2011

The main purpose of this paper is to provide evidence on some of the standard models of accounting earnings and returns relations mainly collected through the literature. Standard models such as earnings level and earnings changes, among others, have been investigated in this study. Models that correspond better to the data drawn from the Athens Stock Exchange have been selected. Models I, II, V, VII and IX have statistically significant coefficients of explanatory variables. In addition, model II with the MSE (minimum value of squared residuals) loss function in ARIMAX (2,0,2) is prevalent. Models that include prior earnings in various forms using levels, changes in price and changes in earnings, change in price to beginning price, lagged parameters and differentiated price models have statistically significant explanatory power.
Low-Temperature, Aqueous-Solution-Processed Zinc Tin Oxide Thin Film Transistor
Authors: Park Jee Ho , Choi Won Jin , Oh Jin Young , Chae Soo Sang , Jang Woo Soon , Lee Se Jong , Song Kie Moon , Baik Hong Koo
Published: July 2011

We fabricate solution-processed zinc tin oxide (ZTO) thin-film transistors (TFTs). The solution used is prepared by precipitating metal hydroxide using NaOH and dissolving it using NH4OH. The X-ray diffraction (XRD) data of the spin-coated ZTO film demonstrates an amorphous phase, and the atomic force microscopy (AFM) image shows a smooth surface. The device performance of solution-processed TFTs was analyzed as a function of annealing temperature. The fabricated TFTs were operated in the enhancement mode, and exhibited a carrier mobility of 3.03 cm2V-1s-1, a threshold voltage of 10.2 V, an on/off current ratio of 1.23×107, a subthreshold slope of 0.78 V/decade, and high transparency (with ∼90% transmittance) at a low annealing temperature of 300 °C.
Regrowth Interface Quality Dependence on Thermal Cleaning of AlGaInAs/InP Buried-Heterostructure Lasers
Authors: Takino Yuta , Shirao Mizuki , Sato Takashi , Nishiyama Nobuhiko , Amemiya Tomohiro , Arai Shigehisa
Published: July 2011

The effect of in-situ thermal cleaning on the regrowth interface quality of 1.3 µm AlGaInAs/InP buried-heterostructure lasers prepared by organo-metallic vapor-phase epitaxy (OMVPE) was investigated. It was proven that the regrowth interface quality can be quantitatively evaluated on the basis of the surface recombination velocity determined from the electroluminescence property below the threshold, and the tendency of the characteristics agreed with the lasing properties. As a result of a successful operation with the stripe width of 3.6 µm, treated by the thermal cleaning process at a temperature of 450 °C for 30–60 min in a PH3 atmosphere, an internal quantum efficiency of approximately 70% was achieved.
Effect of Wasted Space on Device Characteristics of Nitride-Based Avalanche Photodiodes
Authors: Zheng Zhiyuan , Chen Zimin , Xu Kunyuan , Wang Gang
Published: July 2011

On the basis of our recently proposed theory [Jpn. J. Appl. Phys. 49 (2010) 114101], we report the effect of wasted space on the multiplication gain and excess noise characteristics of GaN-based avalanche photodiodes. By means of the Monte Carlo method, it is shown that with the adoption of the revised impact ionization coefficients, the multiplication gain exhibits an obvious discrepancy compared with conventional theory, and agrees well with that reported for InP. Moreover, the size-dependent impact ionization coefficients affect the noise properties under submicron scale, leading to a new feature different from InP and clarifying the reported experimental data.
Fabrication of Ferromagnetic Ni(111) Nanoparticles Embedded Epitaxially in (Mg,Ni)O Matrix by Reduction of (Mg0.5Ni0.5)O(111) Epitaxial Thin Film
Authors: Arai Hideki , Yamauchi Ryosuke , Kiguchi Takanori , Koyama Koji , Kobayashi Keisuke , Suzuki Toshimasa , Sasagawa Takao , Kato Yushi , Tsuchimine Nobuo , Kobayashi Susumu , Mitsuhashi Masahiko , Kaneko Satoru , Yoshimoto Mamoru
Published: July 2011

The ferromagnetic Ni nanoparticles could be epitaxially dispersed in the (Mg,Ni)O matrix by the oxide reduction. For this purpose, the epitaxial (Mg0.5Ni0.5)O thin film was grown at room temperature by pulsed laser deposition and successively reduced at 700 °C in hydrogen gas atmosphere. X-ray diffraction confirmed in-plane and out-of-plane epitaxial precipitation of Ni nanoparticles in the (Mg,Ni)O matrix by selective reduction of the Ni–O part in the epitaxial (Mg0.5Ni0.5)O thin film. Atomic-scale analyses indicated uniform dispersion of Ni nanoparticles (∼20 nm average size) in the (Mg,Ni)O matrix. Magnetic measurement confirmed ferromagnetic property of the Ni nanoparticle-containing (Mg,Ni)O thin films.
Single-Walled Carbon Nanotube Thin Film Transistor Fabricated Using Solution Prepared with 9,9-Dioctyfluorenyl-2,7-diyl–Bipyridine Copolymer
Authors: Yi Xun , Ozawa Hiroaki , Nakagawa Gou , Fujigaya Tsuyohiko , Nakashima Naotoshi , Asano Tanemasa
Published: July 2011

Performance of thin film transistor (TFT) whose channel is fabricated by using a solution process of single-walled carbon nanotube (SWCNT) has been studied. SWCNT solution is prepared by using 9,9-dioctyfluorenyl-2,7-diyl–bipyridine (PFO–BPy) copolymer as solubilizer. Over 4 decades' on/off ratio is obtained by using drop-coating at room temperature without any further optimization. Other solubilizers are chosen as control groups to measure the on/off ratio of SWCNT TFT to investigate effects of the use of PFO–BPy. Results suggest that thick SWCNT network should be uniformly established at the channel region and the channel is required to be formed with well-separated SWCNTs.
Design of Nanosprings Using Si/SiGe Bilayer Thin Film
Authors: Kim Seongseop , Kim Wonbae , Cho Maenghyo
Published: July 2011

An equilibrium configuration of a Si/SiGe bilayer thin film is investigated using the finite element method. In the <100> direction, a nanoband, nanoring, and nanopipe are shaped in turn as the width-to-thickness ratio increases. In the <110> direction, a nanoband, nanospring, and nanopipe are shaped. The type of curved shape is determined by the width-to-thickness ratio and tilt angle from the <110> direction. The pitch angle of the nanospring is determined by the tilt angle from the <110> direction. The helix diameter is determined by the thickness, thickness ratio of the two layers, and composition ratio of the SiGe layer.
Diabetic Foot Prevention: Repeatability of the Loran Platform Plantar Pressure and Load Distribution Measurements in Nondiabetic Subjects during Bipedal Standing—A Pilot Study
Authors: Zequera Martha , Garavito Leonardo , Sandham William , Bernal Juan Camilo , Rodríguez Ángela , Jiménez Luis Camilo , Hernández Andrés , Wilches Carlos , Villa Ana Cecilia
Published: July 2011

This study was designed to assess the repeatability of the Loran Platform and evaluate the variability of plantar pressure and postural balance, during barefoot standing in nondiabetic subjects, for future diabetic foot clinical evaluation. Measurements were taken for eight nondiabetic subjects (4 females, 4 males, aged 47±7.2 years) who had no musculoskeletal symptoms. Five variables were measured with the platform in the barefoot standing position. Ten measurements were taken using two different techniques for feet and posture positioning, during three sessions, once a week. For most measurements, no significant effect over time was found with Student'st-test (P<.000125). The ANOVA test of statistical significance confirmed that measurement differences between subjects showed higher variations than measurements taken from the same subject (P<.001). The measurements taken by the Loran Platform system were found to be repeatable.
Close to Transplant Renal Artery Stenosis and Percutaneous Transluminal Treatment
Authors: Polytimi Leonardou , Sofia Gioldasi , Paris Pappas
Published: July 2011

Purpose. To evaluate the efficacy of percutaneous transluminal angioplasty (PTA) in the management of arterial stenosis located close to the allograft anastomosis (close-TRAS).Materials and Methods. 31 patients with renal transplants were admitted to our institution because of persistent hypertension and impairment of transplant renal function and underwent angiography for vascular investigation. 27 were diagnosed suffering from transplant renal artery stenosis (TRAS), whereas 4 had severe iliac artery stenosis proximal to the transplant anastomosis (Prox-TRAS). 3 cases of TRAS coexisted with segmental renal arterial stenosis, whereas 3 other cases of TRAS were caused by kinking and focal stenosis in the middle of the transplanted renal artery.Results. Angioplasty and stenting were successfully applied to all patients with iliac artery stenosis as well as to those with TRAS and segmental artery stenosis. Two of three patients with kinking were well treated with angioplasty and stenting, whereas one treated only with angioplasty necessitated surgery. No major procedure-related complications appeared, and the result was decrease of the serum creatinine level and of the blood pressure.Conclusions. PTA is the appropriate initial treatment of TRAS and close-TRAS, with low morbidity and mortality rates, achieving improvement of graft function and amelioration of hypertension.
New Canonic Active RC Sinusoidal Oscillator Circuits Using Second-Generation Current Conveyors with Application as a Wide-Frequency Digitally Controlled Sinusoid Generator
Authors: Lahiri Abhirup
Published: July 2011

This paper reports two new circuit topologies using second-generation current conveyors (CCIIs) for realizing variable frequency sinusoidal oscillators with minimum passive components. The proposed topologies in this paper provide new realizations of resistance-controlled and capacitor-controlled variable frequency oscillators (VFOs) using only four passive components. The first topology employs three CCIIs, while the second topology employs two CCIIs. The second topology provides an advantageous feature of frequency tuning through two grounded elements. Application of the proposed circuits as a wide-frequency range digitally controlled sinusoid generator is exhibited wherein the digital frequency control has been enabled by replacing both the capacitors by two identical variable binary capacitor banks tunable by means of the same binary code. SPICE simulations of the CMOS implementation of the oscillators using 0.35 μm TSMC CMOS technology parameters and bipolar implementation of the oscillators using process parameters for NR200N-2X (NPN) and PR200N-2X (PNP) of bipolar arrays ALA400-CBIC-R have validated their workability. One of the oscillators (with CMOS implementation) is exemplified as a digitally controlled sinusoid generator with frequency generation from 25 kHz to 6.36 MHz, achieved by switching capacitors and with power consumption of 7 mW in the entire operating frequency range.
Inelastic Structural Control Based on MBC and FAM
Authors: Gang Li , Qifeng Liu , Hongnan Li
Published: July 2011

A complex structure
has the characters of many degrees of freedom
and intricate shape, especially inelastic
behavior under strong external loadings. It is
hard to apply the structural control technology
to it. In this paper, a new method that combines
the Market‐Based Control (MBC) strategy and
Force Analogy Method (FAM) is presented to
analyze the inelastic behavior of structure with
magnetorheological dampers. The MBC is used to
reduce the structural vibration response, and FAM
is proposed to perform the inelastic analysis. A
numerical example is used to compare the control
effect of the new method and LQR algorithm,
which show the accuracy and efficiency of the
proposed computational method.
Restless Legs Syndrome Presenting as an Acute Exacerbation of Multiple Sclerosis
Authors: Bernheimer James H.
Published: July 2011

Restless legs syndrome is common in patients with multiple sclerosis but has not been reported as occurring due to an acute, inflammatory, demyelinating attack. Restless legs syndrome is known to be related to low brain iron levels. Multiple sclerosis has been associated with the abnormal accumulation of iron in the chronic, progressive phase of axonal degeneration. Iron deficiency may play a role in demyelination. This suggests that restless legs syndrome may be caused by the inflammatory, demyelinating component of multiple sclerosis rather than axonal degeneration. The author presents a case of self-limited restless legs syndrome occurring as an acute attack of multiple sclerosis, supporting the notion that inflammatory demyelination is the underlying pathophysiology of restless legs syndrome in multiple sclerosis.
Phytochemical Composition, Antioxidant Activity, and Neuroprotective Effect ofTerminalia chebulaRetzius Extracts
Authors: Chang Chia Lin , Lin Che San
Published: July 2011

The objectives of this study were to determine phytochemical compositions, chemiluminescence antioxidant activities, and neuroprotective effects on PC12 cells for water, methanol, and 95% ethanol extracts of the air-dried fruit ofTerminalia chebulaRetzius. The water extract afforded the greatest yield, and total phenolic and tannin content. The methanol extract yielded the greatest total triterpenoid content. Based on four chemiluminescence antioxidant assays, the three extracts showed various degrees of antioxidant activity. The methanol extract showed good antioxidant activity based on the horseradish peroxidase-luminol-hydrogen peroxide (H2O2) assay. The water extract appeared to have good antioxidant activities in cupric sulfate-Phen-Vc-H2O2and luminol-H2O2assays. Pyrogallol-luminol assay showed the 95% ethanol extract to have good antioxidant activity. The methanol and water extracts presented neuroprotective activities on H2O2-induced PC12 cell death at 0.5–5.0 μg/mL. Further investigations are necessary to verify these activitiesin vivo.
Novel Autosomal Recessive Nonsyndromic Hearing Impairment Locus DFNB90 Maps to 7p22.1-p15.3
Authors: Ali Ghazanfar , Lee Kwanghyuk , Andrade Paula B. , Basit Sulman , Santos-Cortez Regie Lyn P. , Chen Leon , Jelani Musharraf , Ansar Muhammad , Ahmad Wasim , Leal Suzanne M.
Published: July 2011

A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.
Epigenetics: Principles and Practice
Authors: Hamilton James P.
Published: July 2011

Epigenetics is defined as heritable changes in gene expression that are, unlike mutations, not attributable to alterations in the sequence of DNA. The predominant epigenetic mechanisms are DNA methylation, modifications to chromatin, loss of imprinting and non-coding RNA. Epigenetic regulation of gene expression appears to have long-term effects and wide-ranging effects on health. Diet and environmental exposures may potentially alter the level and scope of epigenetic regulation, thus interesting developments in the study of epigenetics might explain correlations that researchers have found between lifestyle and risk of disease. Aberrant epigenetic patterns have been linked to a number of digestive diseases including Barrett’s esophagus, cirrhosis, inflammatory bowel disease, and numerous gastrointestinal malignancies. In fact, many exciting discoveries about epigenetics in general have been made by studying diseases of the gastrointestinal tract and hepatobiliary tree. Epigenetic modifications of DNA in cancer and precancerous lesions offer hope and the promise of novel biomarkers for early cancer detection, prediction, prognosis, and response to treatment. Furthermore, reversal of epigenetic changes represents a potential target of novel therapeutic strategies and medication design. In the future, it is anticipated that innovative diagnostic tests, treatment regimens, and even lifestyle modifications will be based on epigenetic mechanisms and be incorporated into the practice of medicine.
ASH and NASH
Authors: Scaglioni F. , Ciccia S. , Marino M. , Bedogni G. , Bellentani S.
Published: July 2011

Non-alcoholic steatohepatitis (NASH) and alcoholic steatohepatitis (ASH) have a similar pathogenesis and histopathology but a different etiology and epidemiology. NASH and ASH are advanced stages of non-alcoholic fatty liver disease (NAFLD) and alcoholic fatty liver disease (AFLD). NAFLD is characterized by excessive fat accumulation in the liver (steatosis), without any other evident causes of chronic liver diseases (viral, autoimmune, genetic, etc.), and with an alcohol consumption ≤20–30 g/day. On the contrary, AFLD is defined as the presence of steatosis and alcohol consumption >20–30 g/day. The most common phenotypic manifestations of primary NAFLD/NASH are overweight/obesity, visceral adiposity, type 2 diabetes, hypertriglyceridemia and hypertension. The prevalence of NAFLD in the general population in Western countries is estimated to be 25–30%. The prevalence and incidence of NASH and ASH are not known because of the impossibility of performing liver biopsy in the general population. Up to 90% of alcoholics have fatty liver, and 5–15% of these subjects will develop cirrhosis over 20 years. The risk of cirrhosis increases to 30–40% in those who continue to drink alcohol. About 10–35% of alcoholics exhibit changes on liver biopsy consistent with alcoholic hepatitis. Natural histories of NASH and ASH are not completely defined, even if patients with NASH have a reduced life expectancy due to liver-related death and cardiovascular diseases. The best treatment of AFLD/ASH is to stop drinking, and the most effective first-line therapeutic option for NAFLD/NASH is non-pharmacologic lifestyle interventions through a multidisciplinary approach including weight loss, dietary changes, physical exercise, and cognitive-behavior therapy.
Irritable Bowel Syndrome: Gender, Infection, Lifestyle or What Else?
Authors: Spiller Robin C.
Published: July 2011

Irritable bowel syndrome (IBS) is characterised by abdominal pain and an erratic bowel habit, which depending on the definition used affects 5–10% of the population. As a typical complex disease, it is likely that the condition will develop when a genetically susceptible individual is exposed to an appropriate environment stimulus. This bio-psycho-social model assumes that there is no one cause of IBS, but rather that it is the product of complex interactions between host and environment. Host factors include gender, age and psychological characteristics, while environmental factors include psychosocial stressors, gastrointestinal infections, antibiotics and food.
Diseases of the Digestive Tract: Is Prevention Possible and Feasible?
Authors: Malagelada Juan-R.
Published: July 2011

Prevention is and will remain a major goal of medicine and gastroenterology. Economics will have a major influence. Preventive approaches will need to prove a favorable cost-benefit ratio before they are authorized for broad implementation. Personalized medicine is just starting, but undoubtedly it will accelerate, gain relevance and become an integral part of our clinical practice. Physicians in general and gastroenterologists specifically will need to seriously contemplate retraining/refocusing to gain competence in genetic/proteomic evaluation of individuals, or risk a significant degree of obsolescence.
Environmental Risk Factors for Chronic Pancreatitis and Pancreatic Cancer
Authors: Nitsche Claudia , Simon Peter , Weiss F. Ulrich , Fluhr Gabriele , Weber Eckhard , Gärtner Simone , Behn Claas O. , Kraft Matthias , Ringel Jörg , Aghdassi Ali , Mayerle Julia , Lerch Markus M.
Published: July 2011

Chronic pancreatitis has long been thought to be mainly associated with immoderate alcohol consumption. The observation that only ∼10% of heavy drinkers develop chronic pancreatitis not only suggests that other environmental factors, such as tobacco smoke, are potent additional risk factors, but also that the genetic component of pancreatitis is more common than previously presumed. Either disease-causing or protective traits have been indentified for mutations in different trypsinogen genes, the gene for the trypsin inhibitor SPINK1, chymotrypsinogen C, and the cystic fibrosis transmembane conductance regulator (CFTR). Other factors that have been proposed to contribute to pancreatitis are obesity, diets high in animal protein and fat, as well as antioxidant deficiencies. For the development of pancreatic cancer, preexisting chronic pancreatitis, more prominently hereditary pancreatitis, is a risk factor. The data on environmental risk factors for pancreatic cancer are, with the notable exception of tobacco smoke, either sparse, unconfirmed or controversial. Obesity appears to increase the risk of pancreatic cancer in the West but not in Japan. Diets high in processed or red meat, diets low in fruits and vegetables, phytochemicals such as lycopene and flavonols, have been proposed and refuted as risk or protective factors in different trials. The best established and single most important risk factor for cancer as well as pancreatitis and the one to clearly avoid is tobacco smoke.
Genome-Based Health Literacy: A New Challenge for Public Health Genomics
Authors: Syurina E.V. , Brankovic I. , Probst-Hensch N. , Brand A.
Published: July 2011

So far health literacy has not been sufficiently discussed in the context of public health genomics. Primarily, not genomic but rather genome-based health information needs to be addressed taking into account genome-environment interactions and integrating all health determinants including genomics into a systemic and holistic approach. Translating findings from epigenomics and systems biomedicine will help to understand that individual biological pathways or networks are permanently interacting with environmental networks such as social networks. Thus, in the end also health literacy will become personalized. Genome-based health literacy is challenged by the question of which information is relevant for the individual, for what purpose, and at what time during the lifespan. Public health tools and expertise already in place can and should be used to tackle these huge challenges.
Health Literacy: The Essential Catalyst for the Responsible and Effective Translation of Genome-Based Information for the Benefit of Population Health
Authors: Sørensen Kristine , Brand Helmut
Published: July 2011

The complexity and novelty of public health genomics poses a challenge to ensure effective and responsible translation of genome-based information for the benefit of population health. The aim of this article is to provide literature-based insight into how the concept of health literacy can act as a catalyst for the translation process and to comment on the necessity to adapt new perspectives in a rapidly changing world, such as e.g. the health literacy-friendly approach of Google. Taking advantage of the potential of health literacy in the population along with a recognized role of health professionals as knowledge brokers and ‘nudges’ will benefit the efficiency and responsibility of translating genome-based knowledge.
Polymorphisms of Estrogen Receptors: Risk Factors for Invasive Melanoma – A Prospective Study
Authors: de Giorgi Vincenzo , Sestini Serena , Gori Alessia , Mazzotta Celestina , Grazzini Marta , Rossari Susanna , Mavilia Carmelo , Crocetti Emanuele , Brandi Maria Luisa , Lotti Torello , Massi Daniela
Published: July 2011

Cross-sectional studies have reported associations between a number of polymorphisms in the estrogen receptor alpha (ERα) gene and the body mass index, hypertension, coronary flow reserve, coronary atherosclerosis, and osteoporosis. There are currently no data examining the genetic polymorphisms of the ERα and estrogen receptor beta (ERβ) genes in melanoma patients. The aims of this study were to investigate the associations of genetic polymorphisms of the ERα and ERβ genes with melanoma risk. The study group consisted of consecutive patients who visited the Department of Dermatology of the University of Florence between March 2005 and July 2007 for surgical excision of melanoma. In our study, homozygosity for the wild-type alleles showed different results at the PvuII, XbaI, and AluI restriction sites. Only the AluI site showed a lower proportion of the A allele in the melanoma group compared to the control group; the P and X alleles were lower in the control group than in the melanoma group. The distribution of wild-type alleles is important because these alleles have a protective role in the expression of altered proteins, which involves the ERs in our case. Because of the phenotypic prevalence of the wild-type allele, the heterozygotes did not express the polymorphism. The homozygosity of the polymorphic-type alleles shows that a alleles are more frequent in the case group than in the control group, with proportions of 43.8 and 39.5%, respectively. These results suggest that a polymorphism at the AluIrestriction site correlates with a higher proportion of melanoma. Thus, the polymorphism of ERβ could ascribe to a higher susceptibility to melanoma.
The Energy Budget of the Polar Atmosphere in MERRA
Authors: Cullather Richard I. , Bosilovich Michael G.
Published: July 2011

Components of the atmospheric energy budget from the Modern-Era Retrospective Analysis for Research and Applications (MERRA) are evaluated in polar regions for the period 1979–2005 and compared with previous estimates, in situ observations, and contemporary reanalyses. Closure of the budget is reflected by the analysis increments term, which indicates an energy surplus of 11 W m−2 over the North Polar cap (70°–90°N) and 22 W m−2 over the South Polar cap (70°–90°S). Total atmospheric energy convergence from MERRA compares favorably with previous studies for northern high latitudes but exceeds the available previous estimate for the South Polar cap by 46%. Discrepancies with the Southern Hemisphere energy transport are largest in autumn and may be related to differences in topography with earlier reanalyses. For the Arctic, differences between MERRA and other sources in top of atmosphere (TOA) and surface radiative fluxes are largest in May. These differences are concurrent with the largest discrepancies between MERRA parameterized and observed surface albedo. For May, in situ observations of the upwelling shortwave flux in the Arctic are 80 W m−2 larger than MERRA, while the MERRA downwelling longwave flux is underestimated by 12 W m−2 throughout the year. Over grounded ice sheets, the annual mean net surface energy flux in MERRA is erroneously nonzero. Contemporary reanalyses from the Climate Forecast Center (CFSR) and the Interim Re-Analyses of the European Centre for Medium-Range Weather Forecasts (ERA-I) are found to have better surface parameterizations; however, these reanalyses also disagree with observed surface and TOA energy fluxes. Discrepancies among available reanalyses underscore the challenge of reproducing credible estimates of the atmospheric energy budget in polar regions.
Exploring perceptions of the mental health of youth in Mexico: A qualitative study
Authors: Wells Lisa , Varjas Kris , Cadenhead Catherine , Morillas Catalina , Morris Ashley
Published: July 2011

Limited information is available regarding the mental health of children and adolescents in Mexico (Paula, Duarte, & Bordin, 2007). The purpose of this exploratory qualitative study was to examine the construct of mental health of children and adolescents from the emic perspective of key informants in Mexico. Utilizing qualitative methods of inquiry and analysis, this study yielded a coding hierarchy representing key informants, descriptions of the valued mental health outcomes, socialization influences, stressors, and the resources available for supporting the mental health of children and adolescents in Mexico. The results of these efforts may inform the future development and evaluation of culture-specific definitions and interventions regarding the construct of mental health. Unique contributions to the literature included: (a) the focus on the mental health of youth in Mexico; (b) examining how educational outcomes for youth in Mexico was influenced by their mental health; and (c) the use of qualitative methods of inquiry compared to previous research use of quantitative measures to examine mental health in Mexico (e.g. surveys, self-report questionnaires). Limitations and suggestions for future research are discussed.
Disaster Hits Home
Authors: Peek Lori , Morrissey Bridget , Marlatt Holly
Published: July 2011

The authors explored individual and family adjustment processes among parents ( n = 30) and children ( n = 55) who were displaced to Colorado after Hurricane Katrina. Drawing on in-depth interviews with 23 families, this article offers an inductive model of displaced family adjustment. Four stages of family adjustment are presented in the model: (a) family unity stage, (b) prioritizing safety stage (parents) and missing home stage (children), (c) confronting reality stage (parents) and feeling settled stage (children), and (d) reaching resolution. This research illustrates that parental and child adjustment trajectories are dynamic and may vary over time, thus underscoring the importance of considering the perspectives of both adults and children in research and disaster policy interventions.
Restoring Point‐of‐Care Testing during Parathyroidectomy with a Newer Parathyroid Hormone Assay
Authors: Terris David J. , Weinberger Paul M. , Farrag Tarik , Seybt Melanie , Oliver Joyce E.
Published: July 2011

Objective

Intraoperative parathyroid hormone (IOPTH) monitoring has emerged as a useful adjunct in parathyroidectomy. Originally performed within the operating room, removal of the Nichols assay from the market forced many surgeons to rely on testing done in central laboratories, reducing convenience and prolonging operative times. The authors hypothesized that PTH assessment with a newer point‐of‐care (POC) assay would reduce results reporting time compared with central‐laboratory PTH assays.

Study Design

Cross‐sectional study with planned data collection.

Setting

Academic medical center.

Subjects and Methods

Patients underwent parathyroidectomy for primary or recurrent hyperparathyroidism. Intraoperative monitoring of serum PTH levels was used to confirm biochemical cure following adenoma excision. Samples were run in duplicate using both a POC PTH assay (Future Diagnostics) located within the operating room and a laboratory‐based assay (Turbo PTH). Samples were taken at incision and at 5‐, 10‐, and 15‐minute intervals following removal of suspected parathyroid adenomas. Results reporting time was recorded and compared by nonparametric Wilcoxon rank sum test.

Results

Sixty‐six serum samples were assayed. There was excellent correlation between POC and central‐laboratory IOPTH results (r = 0.880, P <. 001). The POC IOPTH results were available faster than corresponding central‐laboratory results, with a mean of 14.4 minutes compared with 30.7 minutes, respectively (P <. 001). All patients (100%) demonstrated a biochemical cure by the end of the procedure.

Conclusion

Use of a rapid POC IOPTH assay results in a significant decrease in the amount of time for laboratory results to be communicated to the surgical team. This reduces operative times for parathyroidectomy and improves patient care.
Ethics
Authors: Healy Gerald B.
Published: July 2011

Dr John J. Conley was an integral part of the house of surgery in the latter part of the 20th century. Conley placed the ethical values of practice at the forefront of his teachings and transcribed many valuable lessons in his writings. In 1993, he wrote his version of the Hippocratic Oath outlining 12 important principles. Those principles are revisited here as a way to celebrate the joy of the calling that is medical practice. In addition, 7 new elements are added as a way to enhance that joy in the light of 21st‐century medicine. The uplifting experience found in a career filled with ethical conduct is the legacy we should all strive to achieve.
Comparison of the use of minimized cardiopulmonary bypass with conventional techniques on the incidence of retinal microemboli during aortic valve replacement surgery
Authors: Rimpiläinen R , Hautala N , Koskenkari JK , Rimpiläinen J , Ohtonen PP , Mustonen P , Surcel H-M , Savolainen E-R , Mosorin M , Ala-Kokko TI , Juvonen T
Published: July 2011

Objectives: Minimized cardiopulmonary bypass (MCPB) circuits have been shown to reduce cerebral and retinal microembolisation during coronary artery bypass graft (CABG) surgery compared to conventional CPB (CCPB) circuits. Our aim was to evaluate whether the reduction of microembolisation is sustained in aortic valve surgery, as well as to evaluate the effects of MCPB on inflammatory, endothelial, and platelet activation markers.

Material and methods: Patients were randomized to undergo aortic valve replacement (AVR), with or without CABG, with MPCB (n=20) or CCPB (n=20). After anaesthesia induction and termination of CPB, standardized digital retinal fluorescein angiography images were obtained on both eyes and analyzed in a blinded fashion. Blood samples were collected at eight time points until the third postoperative day.

Results: Fewer patients in the MCPB group showed evidence of microembolic perfusion defects on postperfusion retinal fluorescein angiographs compared to the CCPB group (37% vs. 63%, absolute difference 26%, 95% CI -5% -51%, P = 0.194). Polymorphonuclear leukocyte (PMN) elastase and von Willebrand factor release were statistically significantly reduced in the MCPB group, but there were no significant differences in other markers of inflammation, coagulation or endothelial activation. A significantly higher three-fold increase in the amount of shed blood was collected to the cell saver with a higher rate of intraoperative platelet transfusion in the MCPB group compared to CCPB.

Conclusions: The use of MCPB was associated statistically insignificantly with less retinal microemboli compared to CCPB. MCPB was complicated by excess bleeding and need for transfusion. The feasibility of MCPB techniques in valve surgery requires further studies.