bluuebunny/crossref_metadata_2025 huggingface dataset:
Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa‐responsive dystonia
Authors: Theuns Jessie , Crosiers David , Debaene Luc , Nuytemans Karen , Meeus Bram , Sleegers Kristel , Goossens Dirk , Corsmit Ellen , Elinck Ellen , Peeters Karin , Mattheijssens Maria , Pickut Barbara , Del‐Favero Jurgen , Engelborghs Sebastiaan , De Deyn Peter Paul , Cras Patrick , Van Broeckhoven Christine
Published: September 2012

Background:

Autosomal dominant dopa‐responsive dystonia (AD‐DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1.

Methods:

Genome‐wide linkage analysis and positional cloning to identify the genetic defect in a Belgian AD‐DRD family was carried out.

Results and Conclusion:

In this study, we report on the identification and characterization of a novel 24‐kb deletion spanning exon 1 and the 5′ regulatory region of GCH1 causing a wide spectrum of motor and nonmotor symptoms in a large Belgian AD‐DRD family. This large‐scale deletion of regulatory sequences leads to decreased GCH1 activity in all carriers, most probably resulting from allelic loss of transcription. We mapped the breakpoints of this deletion to the nucleotide level, allowing the development of a straightforward polymerase chain reaction assay for fast, efficient detection of this large deletion, which will prove valuable for preimplantation genetic diagnosis. © 2012 Movement Disorder Society
Striatal neuronal loss correlates with clinical motor impairment in Huntington's disease
Authors: Guo Zhihong , Rudow Gay , Pletnikova Olga , Codispoti Kari‐Elise , Orr Brent A. , Crain Barbara J. , Duan Wenzhen , Margolis Russell L. , Rosenblatt Adam , Ross Christopher A. , Troncoso Juan C.
Published: September 2012

Huntington's disease (HD) is characterized clinically by chorea, motor impairment, psychiatric manifestations, and dementia. Atrophy of the striatum is the neuropathological hallmark of HD, and previous studies have suggested that striatal atrophy correlates more closely with motor impairment than with chorea. Motor impairment, as measured by motor impairment score, correlates with functional disability in HD patients, but chorea does not. In this study, we investigated the relation between neuronal loss and these motor features. We conducted neuropathological and stereologic assessments of neurons in putamen and subthalamic nuclei in HD patients and age‐matched controls. In putamen, we estimated the total number and volume of medium spiny neurons labeled with dopamine‐ and cAMP‐regulated phosphoprotein 32 kDa (DARPP‐32). In subthalamic nuclei, we estimated the total number of neurons on hematoxylin & eosin/luxol fast blue stains. In putamen of HD, immunohistochemistry showed DARPP‐32 neuronal atrophy with extensive disruption of neurites and neuropil; stereologic studies found significant decreases in both the number and size of DARPP‐32 neurons; we also detected a significant reduction of overall putamen volume in HD patients, compared to controls. In subthalamic nuclei, there was a mild, but significant, neuronal loss in the HD group. The loss of neurons in putamen and subthalamic nuclei as well as putaminal atrophy were significantly correlated with severity of motor impairment, but not with chorea. Our findings suggest that neuronal loss and atrophy in striatum and neuronal loss in subthalamic nuclei contribute specifically to the motor impairment of HD, but not to chorea. © 2012 Movement Disorder Society
Parkinson's disease medication use and costs following deep brain stimulation
Authors: Weaver Frances M. , Stroupe Kevin T. , Cao Lishan , Holloway Robert G. , Vickrey Barbara G. , Simuni Tanya , Hendricks Ann , Ippolito Dolores
Published: September 2012

The costs of treating Parkinson's disease (PD) are significant. Medication reductions usually occur following deep brain stimulation (DBS), but less is known about the relative costs of DBS targets, the globus pallidum (GPi) or the subthalamic nucleus (STN). This article reports medication costs between best medical therapy (BMT) and DBS over 6 months postintervention and by DBS target over 36 months postsurgery. Prescription use and costs for patients (n = 161) with advanced PD from a multisite randomized trial of BMT and DBS were examined overall and by drug category. Medication adjustment occurred at the discretion of the neurologists. PD medications were extracted from the Department of Veterans Affairs Decision Support System database. Levodopa equivalents (LEDD) were significantly lower for DBS than for BMT patients at 6 months (1101 vs 1398 mg; P = .005), but costs were similar (US$1750 vs US$1589; P = .55). LEDD decreased following GPi and STN DBS (1395–1161 mg, P = .014; and 1347–891 mg, P < .0001, respectively) in the first 6 months, but was lower for STN than for GPi over 36 months following DBS (P = .03). Total PD medication costs per 6‐month intervals decreased over 36 months (P < .0001), but did not differ by target (P = .50) in the mixed‐model analysis. However, cumulative medication costs over 36 months were lower for the STN than for GPi patients. PD medication use and costs decreased following DBS in either target over 36 months, but cumulative costs were less for STN than for GPi. © 2012 Movement Disorder Society
Reconstruction of an extensive anterior skull base defect using a muscle‐sparing rectus abdominis myocutaneous flap in a 1‐year‐old infant
Authors: Iida Takuya , Mihara Makoto , Yoshimatsu Hidehiko , Hara Hisako , Koshima Isao , Kawai Kensuke , Tsuchiya Tsukasa , Asakage Takahiro
Published: September 2012

Despite the recent advances in microsurgical techniques, reconstruction of extensive skull base defects using free flaps in pediatric patients presents a surgical challenge, and reports on skull base reconstruction in infants is quite limited. We present a case of reconstruction of an extensive anterior skull base defect using a rectus abdominis (RA) myocutaneous flap in a 1 year‐old (14 months) infant. Sufficient coverage of the intracranial contents, good aesthetic results, and minimal growth disturbance at the donor site were achieved by the muscle‐sparing RA flap transfer. To the best of our knowledge, this was among the youngest case of skull base reconstruction using a free flap. The feasibility of free flap transfer and flap selection in pediatric skull base reconstruction is discussed. © 2012 Wiley Periodicals, Inc.
Outcomes of wrist arthroplasty using a free vascularized fibular head graft for Enneking stage II giant cell tumors of the distal radius
Authors: Chung Duke Whan , Han Chung Soo , Lee Jae Hoon , Lee Sang Gil
Published: September 2012

The purpose of this study was to report the clinical outcomes of wrist arthroplasty with a free vascularized fibular head graft (FVFHG) and to highlight some considerations that may affect outcomes. FVFHG was performed on 12 patients with giant cell tumors of the distal radius between April 1984 and July 2005. The mean age of patients was 33 years. All 12 patients were classified as Enneking stage 2. Outcomes were evaluated with radiographic and functional assessments, including the scale of Enneking. The mean follow‐up period was 6.26 years. Bone union was achieved in all patients at a mean of 15.7 weeks after surgery. Skin grafting was performed at the recipient site in 5 patients and had good skin healing. Subluxation in the wrist joint was observed in 5 patients and was related to the length of the transplanted fibula. The 5 patients with subluxation experienced considerable osteoarthritic change. The mean arc of flexion‐extension and rotation of the wrist joint was 73.1° and 102.9°, respectively. The mean grip strength was 57.25% of the contralateral side. The mean functional score was 26.4 points. Wrist arthroplasty with a FVFHG is a useful option to treat Enneking stage 2 giant cell tumors of the distal radius. We believe that wrist instability is not determined by the choice of laterality of the fibula, which can be minimized by transplanting a short fibula with the anterior tibial artery as a donor artery. The recipient sites can be successfully resurfaced by skin grafting. © 2012 Wiley Periodicals, Inc., Microsurgery, 2013.
Approximation of the incompressible non‐Newtonian fluid equations by the artificial compressibility method
Authors: Zhao Caidi
Published: September 2012

This paper studies the approximation of the non‐Newtonian fluid equations by the artificial compressibility method. We first introduce a family of perturbed compressible non‐Newtonian fluid equations (depending on a positive parameter ε) that approximates the incompressible equations as ε → 0+. Then, we prove the unique existence and convergence of solutions for the compressible equations to the solutions of the incompressible equations. Copyright © 2012 John Wiley & Sons, Ltd.
Friction dominated dynamics of interacting particles locally close to a crystallographic lattice
Authors: Bodnar M. , Velázquez J.J.L.
Published: September 2012

A system of particles, in general d‐dimensional space, that interact by means of pair potentials and adjust their positions according to the gradient flow dynamics induced by the total energy of the system is studied. The case when the range of the interaction is of the same order as the mean interparticle distance is considered. It is also assumed that particles, locally, are located close to some crystallographic lattice. An appropriate system of equations that describes the evolution of macroscopic deformation of the crystallographic lattice, as well as the system that describes the evolution of the main crystallographic directions is derived. Well‐posedness of the derived system is studied as well as the stability of the particle system. Same examples of potentials that yield stable and unstable systems are given. Copyright © 2012 John Wiley & Sons, Ltd.
Global existence and nonexistence results for a class of semilinear hyperbolic systems
Authors: Aliev Akbar B. , Kazimov Anar A. , Guliyeva Vusala F.
Published: September 2012

In this paper, we investigate the Cauchy problem for a class of the system of semilinear hyperbolic equations with damping. With the use of the Lp → Lq type estimation for the corresponding linear problem and the method of comparison of functional, the existence and nonexistence criteria of global solutions are found. Copyright © 2012 John Wiley & Sons, Ltd.
Multilinear estimates and well‐posedness for the vortex filament fourth‐order Schrödinger equations
Authors: Zhang Junyong , Zheng Jiqiang
Published: September 2012

This paper is concerned with the initial value problem for the fourth‐order nonlinear Schrödinger type equation related to the theory of vortex filament. By deriving a fundamental estimate on dyadic blocks for the fourth‐order Schrödinger through the [k,Z]‐multiplier norm method. we establish multilinear estimates for this nonlinear fourth‐order Schrödinger type equation. The local well‐posedness for initial data in with s > 1 ∕ 2 is implied by the multilinear estimates. Copyright © 2012 John Wiley & Sons, Ltd.
Stability and bifurcation analysis in a viral model with delay
Authors: Xu Changjin
Published: September 2012

In this paper, we consider a three‐dimensional viral model with delay. We first investigate the linear stability and the existence of a Hopf bifurcation. It is shown that Hopf bifurcations occur as the delay τ passes through a sequence of critical values. Then, using the normal form theory and center manifold reduction, we derive the explicit formulaes that determine the stability, the direction, and the period of bifurcating periodic solutions. Numerical simulations are carried out to illustrate the validity of the main results. Finally, some brief conclusions are given. Copyright © 2012 John Wiley & Sons, Ltd.
Epigallocatechin gallate affects survival and metabolism of human sperm
Authors: De Amicis Francesca , Santoro Marta , Guido Carmela , Russo Alessandra , Aquila Saveria
Published: September 2012

Scope

Green tea and its major constituent epigallocatechin gallate (EGCG) have been extensively studied as potential treatment for a variety of diseases. We assessed the influence of EGCG on male fertilizing potential by analyzing different features of human sperm involved in capacitation process.

Methods and results

Using human normozoospermic samples, we evaluated the effect of EGCG (2 μM, 20 μM, 60 μM) on sperm activities. Our results showed that lower doses of EGCG (from 2 to 20 μM) increased cholesterol efflux and tyrosine phosphorylation through the estrogen receptor (ER), since ICI 182,780, a specific ER antagonist, abrogated 20 μM EGCG effects. Besides, we evidenced that EGCG at similar concentrations, increased sperm motility, viability, and phosphorylation of proteins controlling cell survival such as Bcl2, Akt, and Src, via ER. Furthermore, we observed reduction of triglycerides content, induction of lipase, as well as the G6PDH activity. These results address to an increase in energy expenditure. On the contrary, treatment of 60 μM EGCG produced opposite effects that still appear after ICI cotreatment.

Conclusion

These results provide a novel mechanism involving ERs through which low doses of EGCG exerted benefits to sperm physiology, also detected data evidence the adverse action of high EGCG concentrations probably related to its prooxidant and antiestrogenic potential.
Improving Transitions of Care From Hospital to Home: What Works?
Authors: Abrashkin Karen A. , Cho Hyung J. , Torgalkar Sohita , Markoff Brian
Published: September 2012

As the cost of care rises and fragmentation of health care increases, care transitions have become critical parts of the health care system. Physicians and other inpatient providers have the responsibility to communicate to subsequent providers, but such communication occurs far less than is optimal. Timely discharge summaries for the next‐level provider, postdischarge phone calls to patients, and postdischarge follow‐up appointments with primary‐care physicians or inpatient providers may improve postdischarge health care utilization. Pharmacists may also reduce medication errors, adverse medication events, and even readmissions. The most promising data, however, come from studies of multidisciplinary approaches, some of which have shown large reductions in postdischarge utilization and costs. More study is needed to pinpoint the most cost‐effective and efficient strategies to improve transitions from the inpatient setting to other settings. Mt Sinai J Med 79:535–544, 2012. © 2012 Mount Sinai School of Medicine
Personal Health Records: Meaningful Use, But for Whom?
Authors: Kannry Joseph , Beuria Pratharna , Wang Emily , Nissim Julie
Published: September 2012

Providers and hospitals have received more than $5 billion from the federal government for meaningfully using electronic health records as of April 2012. Meaningful Use stage 1 makes adoption of the personal health record optional. The proposed Meaningful Use stage 2 regulations make personal health record use mandatory. There is peer‐reviewed literature to support a personal health record adoption rate of 10%, which is optional in stage 1 and required in stage 2. The literature also supports the use of secure messaging required in stage 2. However, there is little evidence to support other stage 2 personal health record requirements and dependencies. Further study is urgently needed to ensure that Meaningful Use stage 2 is meaningful for both patients and providers. Mt Sinai J Med 79:593–602, 2012 © 2012 Mount Sinai School of Medicine
Primary Care and Health Reform
Authors: Calman Neil S. , Golub Maxine , Shuman Saskia
Published: September 2012

Skyrocketing health care costs are burdening our people and our economy, yet health care indicators show how little we are achieving with the money we spend. Federal and state governments, along with public‐health experts and policymakers, are proposing a host of new initiatives to find solutions. The Patient Protection and Affordable Care Act is designed to address both the quality and accessibility of health care, while reducing its cost. This article provides an overview of models supported by the Affordable Care Act that address one or more goals of the “Triple Aim”: better health care for individuals, better health outcomes in the community, and lower health care costs. The models described below rely on the core principles of primary care: comprehensive, coordinated and continuous primary care; preventive care; and the sophisticated implementation of health information technology designed to promote communication between health care providers, enhance coordination of care, minimize duplication of services, and permit reporting on quality. These models will support better health care and reduced costs for people who access health care services but will not address health outcomes in the community at large. Health care professionals, working in concert with community‐based organizations and advocates, must also address conditions that influence health in the broadest sense to truly improve the health of our communities and reduce health care costs. Mt Sinai J Med 79:527–534, 2012. © 2012 Mount Sinai School of Medicine
Evidence‐Based Medicine and Primary Care: Keeping Up Is Hard to Do
Authors: Zipkin Daniella A. , Greenblatt Lawrence , Kushinka Jeffrey T.
Published: September 2012

Primary‐care physicians feel pressure to be knowledgeable, efficient, comprehensive, and compassionate while delivering evidence‐based medical care. Incorporating evidence‐based medicine into practice requires training in the skills of finding and applying good evidence to patients, and, increasingly, infrastructure that supports the incorporation of evidence into electronic health records. Physicians cite many barriers to the use of evidence‐based medicine in practice. In this review, we examine evidence of the value of evidence‐based medicine in clinical practice, discuss the interface of evidence and shared decision‐making, suggest tools and approaches for incorporating evidence‐based medicine into practice, and discuss the impact of recent health insurance reform on expectations and incentives for physicians with respect to evidence‐based practice. Mt Sinai J Med 79:545–554, 2012. © 2012 Mount Sinai School of Medicine
Integrating Palliative Care Into Primary Care
Authors: McCormick Elizabeth , Chai Emily , Meier Diane E.
Published: September 2012

Patients with serious illnesses are living longer and with greater disabilities. Palliative‐care interventions have been shown to increase quality of life, lower costs, and improve survival. In order to meet the palliative‐care needs of patients, it is crucial for primary‐care clinicians to understand how they can provide primary palliative care and when they should refer to palliative‐care specialists. By working together, many more patients and families will receive the comprehensive, individualized, coordinated care and support that both primary care and palliative care offers to patients. This article will review literature illustrating the benefits of palliative care; discuss why primary‐care clinicians are ideally suited to incorporate palliative care into their practice; and provide guidance to primary‐care clinicians regarding how and when to access palliative‐care specialist services, how to gain more training in palliative care, and how to be reimbursed for palliative‐care visits. Mt Sinai J Med 79:579–585, 2012. © 2012 Mount Sinai School of Medicine
Health Care for Homeless and Unstably Housed: Overcoming Barriers
Authors: Rabiner Mark , Weiner Amy
Published: September 2012

The causes of homelessness are complex and multifactorial and the solutions equally complex. Though homelessness is not a disease process, it is directly linked to poor health outcomes. It is thus incumbent on health care professionals to know the various definitions of homelessness, the ramifications of unstable housing, and the specific living conditions of each homeless patient. These factors needed to be accounted for when designing treatment plans in a way that will increase access to care and promote adherence. Increasing compliance and addressing barriers to care will improve outcomes and may reduce overall health expenditures. Mt Sinai J Med 79:586–592, 2012. © 2012 Mount Sinai School of Medicine
Health Maintenance in Older Adults: Combining Evidence and Individual Preferences
Authors: Gestuvo Maria Kristina
Published: September 2012

There is increasing interest in maintaining health and delaying disability for older adults as this population segment expands. And instead of focusing on a traditional disease‐specific approach to health maintenance, there is an ongoing shift to a patient‐centered approach, and defining outcomes based on the older adults' goals. In this approach, their goals and preferences are central, and other factors such as their health status and prognosis help determine which goals may be realistic. These subjective goals and objective characteristics are then balanced with the risks, benefits, and harms of established evidence‐driven health‐maintenance recommendations. Hence, older adults share their goals and preferences with clinicians; while clinicians share information on risks, benefits, harms, and uncertainties of existing health‐maintenance recommendations, and help guide the older adult through how existing evidence can respond to their health goals and preferences. In this article, the concept of patient‐centered care in the context of health maintenance for older adults is discussed; and health maintenance recommendations for older adults are reviewed. Mt Sinai J Med 79:560–578, 2012. © 2012 Mount Sinai School of Medicine
A new model for the vibration isolation via pile rows consisting of infinite number of piles
Authors: Lu Jian‐Fei , Jeng Dong‐Sheng , Wan Jian‐Wei , Zhang Ji‐Sheng
Published: September 2012

In this study, on the basis of the Floquet transform method, a numerical model for the simulation of the vibration isolation via multiple periodic pile rows with infinite number of piles is established. By means of the fictitious pile method due to Muki and Sternberg, the second kind of Fredholm integral equations for the pile rows are developed by using the fundamental solutions for the half‐space and the compatibility conditions between the piles and half‐space. Employing the Floquet transform method, integral equations for the pile rows in the wavenumber domain are then derived. Solution of the integral equations yields the wavenumber domain solution for the pile rows. The space domain solution can then be retrieved by inversion of the Floquet transform. Numerical results show that the proposed model with the Floquet transform method is in a good agreement with those of the conventional direct superposition method. On the basis of the new model, influences of the spacing between neighboring piles, the Young's modulus of the piles, and the pile length on the vibration isolation effect of the pile rows are investigated. Numerical simulations conducted in this study show that compared with the direct superposition method, the efficiency of the proposed model for simulation of the vibration isolation via pile rows is very high. Copyright © 2012 John Wiley & Sons, Ltd.
Hierarchical non‐negative matrix factorization (hNMF): a tissue pattern differentiation method for glioblastoma multiforme diagnosis using MRSI
Authors: Li Yuqian , Sima Diana M. , Cauter Sofie Van , Croitor Sava Anca R. , Himmelreich Uwe , Pi Yiming , Van Huffel Sabine
Published: September 2012

MRSI has shown potential in the diagnosis and prognosis of glioblastoma multiforme (GBM) brain tumors, but its use is limited by difficult data interpretation. When the analyzed MRSI data present more than two tissue patterns, conventional non‐negative matrix factorization (NMF) implementation may lead to a non‐robust estimation. The aim of this article is to introduce an effective approach for the differentiation of GBM tissue patterns using MRSI data. A hierarchical non‐negative matrix factorization (hNMF) method that can blindly separate the most important spectral sources in short‐TE 1H MRSI data is proposed. This algorithm consists of several levels of NMF, where only two tissue patterns are computed at each level. The method is demonstrated on both simulated and in vivo short‐TE 1H MRSI data in patients with GBM. For the in vivo study, the accuracy of the recovered spectral sources was validated using expert knowledge. Results show that hNMF is able to accurately estimate the three tissue patterns present in the tumoral and peritumoral area of a GBM, i.e. normal, tumor and necrosis, thus providing additional useful information that can help in the diagnosis of GBM. Moreover, the hNMF results can be displayed as easily interpretable maps showing the contribution of each tissue pattern to each voxel. Copyright © 2012 John Wiley & Sons, Ltd.
Extraneural ependymoma: Distant bone, lung, liver, and lymph node metastases following bevacizumab
Authors: Fischer Cheryl , Haque Sofia S. , Huse Jason T. , Blochin Elen , Souweidane Mark M. , Lis Eric , Khakoo Yasmin
Published: September 2012

Extraneural metastases of ependymoma are rare, and have been reported in the lungs, lymph nodes, pleura, mediastinum, liver, diaphragmatic muscle, and bone. We report a case of anaplastic ependymoma with distant metastases to the vertebral bones, lungs, liver, and lymph nodes following treatment with bevacizumab. Recent research has hypothesized that angiogenic tumors may develop means of resistance to antiangiogenic therapies, and some evidence suggests potential for antiangiogenic therapies to promote additional means for cancer spread. Nevertheless, antiangiogenic therapies continue to demonstrate potential as potent therapies for the treatment of many cancers, and should continue to be researched for future uses. Pediatr Blood Cancer 2013; 60: 143–145. © 2012 Wiley Periodicals, Inc.
Is there a role for carboplatin in the treatment of malignant germ cell tumors? A systematic review of adult and pediatric trials
Authors: Shaikh Furqan , Nathan Paul C. , Hale Juliet , Uleryk Elizabeth , Frazier Lindsay
Published: September 2012

Background

While cisplatin is considered superior to carboplatin for the treatment of malignant germ cell tumors (MGCTs) in adults, pediatric oncology collaborative groups still remain concerned about the late effects of cisplatin in children.

Methods

We performed a literature search to identify randomized controlled trials (RCTs) that used carboplatin for MGCTs in adults. Since no RCTs were available in children, we identified cohort studies of pediatric MGCTs treated with carboplatin. We compared the adult and pediatric studies in terms of characteristics, doses of chemotherapy, and outcomes.

Results

Of 2,131 publications retrieved, five RCTs in adults (1,340 patients) and four cohort studies in children (219 patients) met criteria for inclusion. All adult RCTs evaluated carboplatin versus cisplatin regimens in men with good‐prognosis metastatic MGCTs. Carboplatin regimens had a higher risk of events (RR 2.51, P < 0.001) and of deaths (RR 2.21, P < 0.001) than cisplatin regimens. Across all five RCTs, 497/654 (76%) of adults who received carboplatin remained event‐free. Compared to the adult trials, three pediatric studies used carboplatin at a higher dose, frequency, and number of cycles. Across these three studies, 158/179 (88%) of children remained event‐free.

Conclusions

Cisplatin is superior to carboplatin at the studied doses for the treatment of adult metastatic MGCTs. However, we observe that carboplatin is associated with good outcomes for children with MGCT when used at the higher doses. We hypothesize that a risk‐adapted approach utilizing both platinum agents may achieve the optimal balance between cure and late effects. Pediatr Blood Cancer 2013; 60: 587–592. © 2012 Wiley Periodicals, Inc.
Long‐term efficacy and toxicity of bevacizumab‐based therapy in children with recurrent low‐grade gliomas
Authors: Hwang Eugene I. , Jakacki Regina I. , Fisher Michael J. , Kilburn Lindsay B. , Horn Marianna , Vezina Gilbert , Rood Brian R. , Packer Roger J.
Published: September 2012

Background

Because definitive resection or radiotherapy for pediatric low‐grade gliomas (LGGs) may be associated with severe and permanent adverse effects, medical management has taken a significant role. Bevacizumab‐based therapy has demonstrated encouraging responses; however, longer‐term toxicity, response durability and alternative dosing regimens have not been evaluated.

Procedure

This was a retrospective review of children with multiply recurrent, progressive LGGs treated with bevacizumab‐based therapy and followed for at least 12 months after treatment completion. Toxicity was uniformly graded and imaging was centrally reviewed.

Results

All fourteen patients had failed at least two prior treatment regimens; six had dissemination. Patients received initial bevacizumab‐based therapy at a median age of 5.3 years (range, 1–12 years). Median treatment duration was 12 months (range, 1–24 months). 12 patients had an objective response; 2 had stable disease. Median time to maximum response was 9 weeks (range, 7–17 weeks). No patients progressed on therapy, although 13/14 progressed after stopping bevacizumab at a median of 5 months. Four patients were re‐treated with bevacizumab and all again responded or stabilized. Alternative dosing strategies were effective, including bevacizumab monotherapy and prolonging the dosing interval to 3 weeks. High‐grade bevacizumab‐related toxicities consisted of grade 3 proteinuria (n = 2), primary inflammatory arthritis (n = 1), and somnolence (n = 1). Toxicities resolved within 6 months of treatment cessation except one case of hypertension.

Conclusions

Bevacizumab‐based therapy is successful at inducing rapid LGG response. Patients progressing off‐therapy may be successfully re‐treated with bevacizumab. Nearly all tumors progress once treatment is discontinued. Toxicities are not insignificant but usually reversible. Pediatr Blood Cancer 2013; 60: 776–782. © 2012 Wiley Periodicals, Inc.
Temperature‐dependent water vapour and oxygen permeation through different polymeric materials used in photovoltaic‐modules
Authors: Hülsmann Philip , Weiß Karl‐Anders , Köhl Michael
Published: September 2012

Most photovoltaic (PV)‐modules have polymeric materials as encapsulants and back sheets. Usually these materials are not water vapour‐tight and air‐tight, but allow permeation of gases from the ambient atmosphere, especially oxygen and water vapour, which could contribute to degradation of the PV‐modules.This work gives a short overview on how the permeation process through polymers takes place and how it is influenced by the material properties and ambient conditions. Results of permeation and diffusion measurements for water vapour as well as oxygen are shown for various encapsulation and back sheet materials with special focus on temperature dependence. The results demonstrate differences in permeability and temperature dependence for the investigated materials, but also show similarities for material groups. All investigated materials feature a Fickian behaviour within the measurement conditions even when crossing glass temperature or melting temperature. With these results, an Arrhenius‐model was fitted to extrapolate permeation and diffusion values to a temperature range the PV‐modules can be exposed to during lifetime. Copyright © 2012 John Wiley & Sons, Ltd.
H2 plasma treatment at the p/i interface of a hydrogenated amorphous Si absorption layer for high‐performance Si thin film solar cells
Authors: Lee Czang‐Ho , Kim Byoung‐June , Shin Myunghun
Published: September 2012

Plasma treatment (PT) of the buffer layer for highly H2‐diluted hydrogenated amorphous silicon (a‐Si:H) absorption layers is proposed as a technique to improve efficiency and mitigate light‐induced degradation (LID) in a‐Si:H thin film solar modules. The method was verified for a‐Si:H single‐junction and a‐Si:H/microcrystalline silicon (µc‐Si:H) tandem modules with a size of 200 × 200 mm2 (aperture area of 382.5 cm2) under long‐term light exposure. H2 PT at the p/i interface was found to eliminate non‐radiative recombination centers in the buffer layer, and plasma‐enhanced chemical vapor deposition at low radio‐frequency power was found to suppress the generation of defects during the growth of a‐Si:H absorption layers on the treated buffer layers. With optimized H2 PT of the a‐Si:H single‐junction module, the stabilized short circuit current and fill factor increased, and the stabilized open circuit voltage moves beyond its initial value. The results demonstrate 7.7% stabilized efficiency and 10.5% LID for the a‐Si:H single‐junction module and 10.82% stabilized efficiency and 7.76% LID for the a‐Si:H/µc‐Si:H tandem module. Thus, the growth of an a‐Si:H absorption layer on a H2 PT buffer layer can be considered as a practical method for producing high‐performance Si thin film modules. Copyright © 2012 John Wiley & Sons, Ltd.
Role of Periglacial Processes in Epikarst Morphogenesis: A Case Study from Chełm Chalk Quarry, Lublin Upland, Eastern Poland
Authors: Dobrowolski Radosław , Bieganowski Andrzej , Mroczek Przemysław , Ryżak Magdalena
Published: September 2012

Pocket forms several decimetres in diameter, 0.5–1.5 m deep and infilled mainly with glaciogenic sands, silts and clays of Saalian age are commonly developed on the top of the karstified chalk massif of the Lublin Upland, eastern Poland. Analysis of lithofacies, particle‐size distribution and micromorphology of three pocket infills in the Chełm chalk quarry reveals a prominent clay cortex between the host chalk and the glaciogenic infill and suggests that periglacial processes have played a considerable role in the formation of the pockets and in the redistribution of their primary glaciogenic infill. A conceptual model for epikarst morphogenesis for the chalk karst of Lublin Upland is proposed, involving three stages. Stage I: In the absence of permafrost, precipitation water infiltrates unconsolidated glaciogenic deposits. Stage II: Periglacial transformation with underlying permafrost. Primary cryoturbation structures became protokarst forms, and then epikarst forms. Stage III: Degradation of the permafrost, with increased carbonate dissolution and development of a clay karst cortex. Copyright © 2012 John Wiley & Sons, Ltd.
Evidences of the inflammasome pathway in chronic prostatitis and chronic pelvic pain syndrome in an animal model
Authors: Chen Chih‐Shou , Chang Pey‐Jium , Lin Wei‐Yu , Huang Yun‐Ching , Ho Dong‐Ru
Published: September 2012

BACKGROUND

The mechanism of non‐bacterial chronic prostatitis (CP/CPPS) has long been investigated but remains unclear. Under the hypothesis that abnormal response of innate immunity may be a cause of CP/CPPS, this study evaluated inflammasome, as part of innate immunity, and its effects on persist inflammation and CP/CPPS.

METHODS

Carrageenan was used to induce CP/CPPS in a rat animal model. After confirming tactile hyper‐algesia in the rats, their local prostate inflammation status, and inflammasome expression were determined. The amount of inflammasome and its downstream protein was checked, along with prostate localization. Chlorogenic acid (CHA), an active ingredient of Chinese herbal remedy for CP/CPPS treatment, was used as treatment.

RESULTS

The rats had CP/CPPS once scrotal static tactile allodynia developed and CHA treatment relieved the scrotal hypersensitivity. Downstream inflammasome proteins like IL‐1β and caspase 1 increased within the prostate and decreased with CHA treatment. Inflammasome, NALP1 but not NALP3, was significantly increased in the prostate glandular endothelial cells. Treatment with CHA also changed the distribution pattern of NALP1 in the prostate.

CONCLUSIONS

There is a close relationship between activation of inflammasome and patho‐physiologic changes of CP/CPSS in rats. Increased inflammasome may be a possible mechanism of CP/CPPS and clinically active regimen may inhibit the inflammasome‐related pathway. This provides a new therapeutic rationale and approach for CP/CPPS treatment. Prostate 73: 391–397, 2013. © 2012 Wiley Periodicals, Inc.
Epimerization in peptide thioester condensation
Authors: Teruya Kenta , Tanaka Takeyuki , Kawakami Toru , Akaji Kenichi , Aimoto Saburo
Published: September 2012

Peptide segment couplings are now widely utilized in protein chemical synthesis. One of the key structures for the strategy is the peptide thioester. Peptide thioester condensation, in which a C‐terminal peptide thioester is selectively activated by silver ions then condensed with an amino component, is a powerful tool. But the amino acid adjacent to the thioester is at risk of epimerization. During the preparation of peptide thioesters by the Boc solid‐phase method, no substantial epimerization of the C‐terminal amino acid was detected. Epimerization was, however, observed during a thioester–thiol exchange reaction and segment condensation in DMSO in the presence of a base. In contrast, thioester–thiol exchange reactions in aqueous solutions gave no epimerization. The epimerization during segment condensation was significantly suppressed with a less polar solvent that is applicable to segments in thioester peptide condensation. These results were applied to a longer peptide thioester condensation. The epimer content of the coupling product of 89 residues was reduced from 27% to 6% in a condensation between segments of 45 and 44 residues for the thioester and the amino component, respectively. Copyright © 2012 European Peptide Society and John Wiley & Sons, Ltd.
Diamond nanophotonics and applications in quantum science and technology
Authors: Hausmann B. J. M. , Choy J. T. , Babinec T. M. , Shields B. J. , Bulu I. , Lukin M. D. , Lončar Marko
Published: September 2012

Diamond nanophotonics have evolved tremendously from the study of color centers in bulk single crystals and nanocrystals to their characterization in nanostructured environments. This development was facilitated by the ability to generate monolithic, sophisticated nanodevices in high quality single crystal diamond. Here, we present some recent contributions to the field of diamond nanophotonics: increase in single photon collection from nitrogen vacancy (NV) centers embedded in diamond nanowires, broadband spontaneous emission enhancement of single NV centers in plasmonic resonators, and coupling of single NV centers to planar resonators on‐chip.

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On the epitaxy of germanium telluride thin films on silicon substrates
Authors: Giussani Alessandro , Perumal Karthick , Hanke Michael , Rodenbach Peter , Riechert Henning , Calarco Raffaella
Published: September 2012

The growth by molecular beam epitaxy of GeTe thin films on highly lattice‐mismatched Si(111) substrates is reported. In situ reflection high‐energy electron diffraction and quadrupole mass spectrometry were employed to monitor the growth process in real time and tune the deposition conditions. Epitaxy was achieved in a window of substrate temperatures between 220 and 270 °C, using a Ge/Te flux ratio of ∼0.4. Extensive ex situ X‐ray diffraction characterization showed that the epitaxial layers crystallize in the rhombohedrally distorted rocksalt structure α‐GeTe, with orientation relationships to the substrate α‐GeTe[0001] ‖ Si[111] and α‐GeTe〈10${\bar {1}}$0〉 ‖ Si〈$11{\bar {2}}$〉. ω‐scans of the α‐GeTe(000n) reflections (n = 3, 6, 9) exhibit a full width at half maximum between 10 and 20 arcsec, indicating small mosaicity. However, a large twist is observed (∼14°), pointing to the presence of rotational domains. In addition, the layer matrix is affected by twinning. The epitaxial films exhibit a slight tensile in‐plane strain, which might be due to the difference in thermal expansion coefficients between α‐GeTe and Si, and/or small deviation from stoichiometric composition, i.e., vacancies in the Ge sub‐lattice.
Surface excitation parameter for allotropic forms of carbon
Authors: Pauly N. , Novák M. , Tougaard S.
Published: September 2012

The surface excitation parameter (SEP) is calculated for five carbon allotropes: amorphous carbon, graphite, glassy carbon, C60‐fullerite and diamond for electron energies between 300 eV and 3400 eV, and for angles between 0° and 60° to the surface normal. SEP, defined as the change in excitation probability, for an electron, caused by the presence of the surface in comparison with an electron moving the same distance in an infinite medium, is calculated within two dielectric response models due to Yubero and Tougaard (YT) and Tung, Chen, Kwei and Chou (TCKC) respectively. We show that SEP results obtained from TCKC are roughly independent of the allotrope while values calculated from YT are clearly material dependent. Moreover we find that SEP calculated from TCKC is on average 40% larger than those calculated from YT, the difference being largest for materials with large band gap energy. This difference is due to the simplified description of surface excitations in TCKC Copyright © 2012 John Wiley & Sons, Ltd.
Surface Functionality of Nanoparticles Determines Cellular Uptake Mechanisms in Mammalian Cells
Authors: Saha Krishnendu , Kim Sung Tae , Yan Bo , Miranda Oscar R. , Alfonso Felix S. , Shlosman Denis , Rotello Vincent M.
Published: September 2012

Nanoparticles (NPs) are versatile scaffolds for numerous biomedical applications including drug delivery and bioimaging. The surface functionality of NPs essentially dictates intracellular NP uptake and controls their therapeutic action. Using several pharmacological inhibitors, it is demonstrated that the cellular uptake mechanisms of cationic gold NPs in both cancer (HeLa) and normal cells (MCF10A) strongly depend on the NP surface monolayer, and mostly involve caveolae and dynamin‐dependent pathways as well as specific cell surface receptors (scavenger receptors). Moreover, these NPs show different uptake mechanisms in cancer and normal cells, providing an opportunity to develop NPs with improved selectivity for delivery applications.
Characterization of Ti6Al4V for Integral Transition Structures in FRP–Aluminum Compounds
Authors: Schimanski Kai , Schumacher Jens , Wottschel Vitalij , von Hehl Axel , Zoch Hans‐Werner , Vollertsen Frank
Published: September 2012

Components in hybrid design become more and more important in terms of their lightweight potential. In this context, the demand for weight saving in aerospace industry leads to increase numbers of applications of fiber reinforced composites for primary structural components. In consequence, the use of FRP‐metal compounds is necessary. In the context of the investigations of the researcher group named “Black‐Silver” (“Schwarz Silber”, FOR 1224) founded by the DFG (German Research Foundation) material optimized interface structures for advanced carbon fiber reinforced plastic (CFRP)–aluminum compounds are currently being studied. Within their work the researcher group focussed on three concepts realizing the transition structures: the usage of wires (titanium), foils (titanium), and fibers (glass fiber) as transition elements between CFRP and aluminum. For the connection of the aluminum sheet and the transition element die‐casting and laser beam welding are basically used. The paper concentrates on the characterization of suitable materials for transition structures. Due to their high strength and low density (in comparison to steel) and the resulting potential in view on light‐weight design Ti‐alloys were investigated. Because of the increased availability of Ti‐wires compared to Ti‐foils in suitable thickness the former were used for the basic investigations on Ti‐alloys which are suitable for integral transition structures.
Morphogenesis of the Caenorhabditis elegans vulva
Authors: Schindler Adam J. , Sherwood David R.
Published: September 2012

Understanding how cells move, change shape, and alter cellular behaviors to form organs, a process termed morphogenesis, is one of the great challenges of developmental biology. Formation of the Caenorhabditis elegans vulva is a powerful, simple, and experimentally accessible model for elucidating how morphogenetic processes produce an organ. In the first step of vulval development, three epithelial precursor cells divide and differentiate to generate 22 cells of 7 different vulval subtypes. The 22 vulval cells then rearrange from a linear array into a tube, with each of the seven cell types undergoing characteristic morphogenetic behaviors that construct the vulva. Vulval morphogenesis entails many of the same cellular activities that underlie organogenesis and tissue formation across species, including invagination, lumen formation, oriented cell divisions, cell–cell adhesion, cell migration, cell fusion, extracellular matrix remodeling, and cell invasion. Studies of vulval development have led to pioneering discoveries in a number of these processes and are beginning to bridge the gap between the pathways that specify cells and their connections to morphogenetic behaviors. The simplicity of the vulva and the experimental tools available in C. elegans will continue to make vulval morphogenesis a powerful paradigm to further our understanding of the largely mysterious mechanisms that build tissues and organs. WIREs Dev Biol 2013, 2:75–95. doi: 10.1002/wdev.87

This article is categorized under:

Gene Expression and Transcriptional Hierarchies > Cellular Differentiation

Invertebrate Organogenesis > Worms
Long non‐coding RNAs coordinate cellular responses to stress
Authors: Lakhotia Subhash C.
Published: September 2012

Following the initial discovery of the heat shock RNA omega (hsrω) gene of Drosophila melanogaster to be non‐coding (nc) and also inducible by cell stress, other stress‐inducible long non‐coding RNAs (lncRNA) have been described in diverse organisms. In view of the rapid sequence divergence of lncRNAs, present knowledge of stress trasncriptome is limited and fragmented. Several known stress‐related lncRNAs, associated with specific nuclear speckled domains or nucleolus, provide structural base for sequestering diverse RNA‐processing/regulatory proteins. Others have roles in transcriptional or translational inhibition during stress or in signaling pathways; functions of several other lncRNAs are not yet known. Most stress‐related lncRNAs act primarily by modulating activity of the proteins to which they bind or by sequestering specific sets of proteins away from the active pool. A common emerging theme is that a given lncRNA targets one or more protein/s with key role/s in the cascade of events triggered by the stress and therefore has a widespread integrative effect. Since proteins associate with RNA through short sequence motifs, the overall base sequence of functionally similar ncRNAs is often not conserved except for specific motifs. The rapid evolvability of ncRNA sequences provides elegant modules for adaptability to changing environment as binding of one or the other protein to ncRNA can alter its structure and functions in distinct ways. Thus the stress‐related lncRNAs act as hubs in the cellular networks to coordinate activities of the members within and between different networks to maintain cellular homeostasis for survival or to trigger cell death. WIREs RNA 2012. doi: 10.1002/wrna.1135

This article is categorized under:

RNA Interactions with Proteins and Other Molecules > Protein–RNA Interactions: Functional Implications

RNA Export and Localization > RNA Localization

Regulatory RNAs/RNAi/Riboswitches > Regulatory RNAs