bluuebunny/crossref_metadata_2025 huggingface dataset:
A computationally efficient model for the Greenland ice sheet
Authors: Haqq-Misra J. , Applegate P. , Tuttle B. , Nicholas R. , Keller K.
Published: July 2012

Abstract. We present a one-dimensional model of the Greenland Ice Sheet (GIS) for use in analysis of future sea level rise. Simulations using complex three-dimensional models suggest that the GIS may respond in a nonlinear manner to anthropogenic climate forcing and cause potentially nontrivial sea level rise. These GIS projections are, however, deeply uncertain. Analyzing these uncertainties is complicated by the substantial computational demand of the current generation of complex three-dimensional GIS models. As a result, it is typically computationally infeasible to perform the large number of model evaluations required to carefully explore a multi-dimensional parameter space, to fuse models with observational constraints, or to assess risk-management strategies in Integrated Assessment Models (IAMs) of climate change. Here we introduce GLISTEN (GreenLand Ice Sheet ENhanced), a computationally efficient, mechanistically based, one-dimensional flow-line model of GIS mass balance capable of reproducing key instrumental and paleo-observations as well as emulating more complex models. GLISTEN is based on a simple model developed by Pattyn (2006). We have updated and extended this original model by improving its computational functionality and representation of physical processes such as precipitation, ablation, and basal sliding. The computational efficiency of GLISTEN enables a systematic and extensive analysis of the GIS behavior across a wide range of relevant parameters and can be used to represent a potential GIS threshold response in IAMs. We demonstrate the utility of GLISTEN by performing a pre-calibration and analysis. We find that the added representation of processes in GLISTEN, along with pre-calibration of the model, considerably improves the hindcast skill of paleo-observations.
Impact of CRM Implementation on Hotel Efficiency: Evidence from the Slovenian Hotel Sector
Authors: Josiassen Alexander , Assaf A. George , Knežević Ljubica
Published: July 2012

Managers know that it is easier to get business from existing customers than to attract entirely new customers. Many firms therefore aim to form deeper and stronger relationships with their customers in order to increase loyalty and repeat purchases. A central concept in this regard is customer relationship management (CRM). However, while previous research shows there are benefits attached to forging closer ties with customers, there are also some costs involved. Yet, very little research has investigated the central question of whether CRM endeavours are an efficient use of a firm's resources. In this paper, the authors address this gap and investigate the effect of CRM implementation on the cost and technical efficiency of hotels. They find support for the hypothesis that while CRM increases technical efficiency, it decreases cost efficiency. The authors discuss the managerial implications of their findings and provide directions for future research.
The ‘Power’ of Tourism in Portugal
Authors: Provenzano Davide
Published: July 2012

The author analyses the upper tail of the distribution of tourism supply in Portugal from 2002 to 2009, using data from the Instituto Nacional de Estatística database. Tourism supply is defined in terms of the lodging capacity of hotel establishments in about 250 tourist destinations. The paper shows that the empirical distribution of tourism supply in Portugal is heavy-tailed and consistent with a power law behaviour in its upper tail. Such behaviour seems to be stable over the years, provided that, for the time horizon covered by the data sets, the scaling parameter is always close to the value of two. The power law hypothesis is tested positively through the use of graphical and analytical methods. Cooperation among stakeholders and the enlargement of the base for tourism supply are the main policy implications drawn from the power law analysis to avoid the threat of a fall in tourist arrivals in Portugal.
The Effect of Garlic (Allium sativum) on Growth and Haematological Parameters of Clarias gariepinus (Burchell, 1822)
Authors: Nwabueze Agatha Arimiche
Published: July 2012

The effect of different concentrations of garlic (Allium sativum) supplement in fish diet on growth and haematological parameters of Clarias gariepinus fingerlings was investigated. Fish were separated into four experimental groups of 0% (controls), 0.5%, 1.0% and 3% concentrations of garlic in diet and fed at 3% body weight per day in a renewal static bioassay system. Garlic supplemented diet did not have any significant effect on weight gain of C. gariepinus when compared to fish in the control diet. However, final fish weight was significantly (P<0.05) higher than the initial fish weight in all concentrations of garlic in fish diet and in the controls. No significant (P>0.05) difference in total length was observed in fish fed different concentrations of garlic at the end of 12 weeks. An increase in total length was observed in fish with garlic supplemented diet over fish in the control diet. Fish fed different concentrations of garlic in diet showed slight differences in total length but did not significantly (P>0.05) differ from each other in total length. Fish in 0.5% garlic diet had higher weight gain and total length than fish in the rest of the treatment groups and the controls. Final white blood cell (WBC), red blood cell (RBC), packed cell volume (PCV), haemoglobin (Hb) were observed to be significantly (P<0.05%) higher than the initial counts in the treatment groups as compared to the controls. RBC, PCV and Hb were however, significantly higher in fish fed 0.5% garlic supplemented diets than other concentrations. Plasma protein was observed to increase significantly (P<0.05) only in fish fed 0.5% and 1.0% garlic in diet. This study has shown that 0.5% (0.5g/kg) garlic supplement in fish feeds elicited more increase in fish total length and volume of haematological parameters of C. gariepinus. Garlic inclusion in fish diet at 0.5% (0.5g/kg) concentration is therefore beneficial for use in aquaculture to enhance the disease resistant status of C. gariepinus.
FRAILTY: A Report from the 3rd Joint Workshop of IAGG/WHO/SFGG, Athens, January 2012
Authors: Rockwood Kenneth , Bergman Howard
Published: July 2012

Frailty represents a growing challenge to modern health-care systems. This paper reports on a conference on frailty held in Athens in January 2012. Papers from 11 groups, including those of the authors, were presented and discussed over two days. Several approaches to frailty and its operationalization (including biomarkers) and to social vulnerability were discussed. The search programs that incorporate multiple measures and allows them to be tested were encouraged.
AWWA's Management and Leadership Division: Workforce Strategies Committee
Authors: Karasik Stuart , Peters Sharon , Dunn Glenda , Nolan Shelley , Stannard William , Oxenford Jeff , McCain Katie
Published: July 2012

The AWWA Workforce Strategies Committee has been busy this past year and has big plans for the coming year. This committee's mission is “to enhance the visibility and understanding of workforce strategies as a critical element of management; to identify world‐class strategies for proactive and effective workforce development; and to build resources and capability within the water profession that will enable leaders, managers, and organizations to successfully attract, recruit, train and retain talented and skilled people who will sustain and enhance the water industry and its crucial services to the public.”
Assessing Drinking Water Infrastructure Need
Authors: Shanaghan Peter E.
Published: July 2012

AWWA's recently released report “Buried No Longer: Confronting America's Water Infrastructure Challenge” estimates that an investment of at least $1 trillion will be required through 2035 in order to restore existing water system pipe networks as they reach the end of their useful lives and to expand them to serve a growing population while maintaining current levels of water service. Growth, much of which is projected to be concentrated in the South and West, accounts for nearly half of this investment need.
Public‐Private Partnerships for Municipal Utilities, Part 1: The City Needs More Money—Sell the Utility!
Authors: Baird Gregory M.
Published: July 2012

Nearly 85% of U.S. water utilities are owned or controlled by local governments. This condition creates the scenario in which a mayor ‐ running for re‐election ‐ rushes into the water utility manager's office and exclaims, “The city needs more money ‐ so sell the utility!” Municipally owned utilities continually face the challenge of demonstrating cost‐effectiveness as well as the risk of some type of a change in accountability and maybe even ownership. The degree to which the utility is privatized could include everything from outsourcing, leasing, or assigning operations and maintenance activities to the sale of the asset (private ownership).
The Complexities of Disinfection in the Twenty‐first Century
Authors: Spence Shannon , Morley Kevin M. , Sloan Jeffery T.
Published: July 2012

In the early 1900s water utilities embraced a new treatment process ‐ chlorination ‐ that was later hailed by the Centers for Disease Control and Prevention as one of the greatest public health advances of the twentieth century. Today, an estimated 98% of U.S. water systems use some form of chlorine to help provide safe drinking water. In fact, the U.S. Environmental Protection Agency requires most tap water (except extremely clean groundwater) to have a detectable level of chlorine.
Characterization of antimicrobial, antioxidant, anticancer properties and chemical composition of Sauropus androgynus stem extract
Authors: WEI Lee Seong , WEE Wendy , YONG FU SIONG Julius , SYAMSUMIR Desy Fitrya
Published: July 2012

Background. This study describes antimicrobial, anticancer and antioxidant properties of Sauropus androgynus stem extract. The main objective of the present study was to reveal the potential of S. androgynus strip to be used as a medicinal drug.
Materials and methods. The antimicrobial properties of S. androgynus stem extract against Aeromonas hydrophila, Escherichia coli, Edwardsiella tarda, Flavobacterium sp., Klebsiella sp., Salmonella sp., Vibrio alginolyticus, V. parahaemolyticus, V. cholerae and Pseudomonas aeruginosa were revealed by using the broth micro-dilution method, whereas the anticancer effects of the extract was determined with a colorimetric MTT (tetrazolium) assay against human breast adenocarcinoma (MCF-7). The antioxidant activity of the plant extract was characterized also by using a α, α-diphenyl-β-picrylhydrazyl (DPPH) radical scavenging method. Finally, chemical compounds of the plant extract were screened and identified by using gas chromatography – mass spectrometry (GC–MS).
Results. The minimum inhibitory concentration (MIC) values ranged from 7.81 to 62.5 mg/l in which the plant extract was found to inhibit the growth of Edwardsiella tarda, Escherichia coli, Flavobacterium sp., Pseudomonas aeruginosa and Vibrio cholerae at 7.81 mg/l, Klebsiella sp., Aeromonas hydrophila and Vibrio alginolyticus at 15.6 mg/l, and it was able to control the growth of Salmonella sp. and Vibrio parahaemolyticus at 62.5 mg/l. The results of the present study has shown S. androgynus stem extract to possess a high antimicrobial activity and a moderate antioxidant activity (inhibition concentration 50%; IC50 of DPPH is 8 ppt), but no anticancer activity. A total of 34 compounds were identified in the plant extract in which the major compounds were 9, 12, 15-octadecatrienoic acid, methyl ester, (Z, Z, Z)- (14.48%) and phytol (13.08%).
Conclusions. S. androgynus stem extract can be used as an antimicrobial and antioxidant agents.

Keywords: antimicrobial, antioxidant, anticancer, chemical compound, Sauropus androgynus stem
A randomized multicenter trial to compare functional outcome and complications of surgical procedures for low rectal cancers
Authors: STRATILATOVAS Eugenijus , SANGAILA Egidijus , SINKEVIČIUS Žalvyras , BURNECKIS Arvydas , POŠKUS Eligijus , STRUPAS Kęstutis
Published: July 2012

Background. The outcomes after different low rectal resection types applied for rectal cancer treatment are still uncertain. The aim of the investigation was to evaluate long-term functional results, the rate of complications and post-operative lethality after rectum low resection operations (connection with J-pouch group: coloplasty – group 2 and “straight” anastomosis – group 3).
Patients and methods. In 2003, a randomized study was started and completed on December 2007. The study included 82 patients (38 females and 44 males). The patients were randomized into three groups. They were suffering from cancer stage I–III.
Results. There were no postoperative deaths after 82 resections with total mesorectal excision (TME) and low connection. The overall rate of postoperative complications was 28%, and the rate of anastomosis suture leakage was 11%. The rate of postoperative complications was 20.7% (6 patients) in group 1, 28.6% (6 patients) in group 2, 34.3% (11 patients) in group 3. The rate of complications was substantially higher in groups 2 and 3; however, this difference was statistically not significant (p = 0.2636). The functional results after 3, 6, 9, 12 and 24 months showed no statistical difference among the groups; moreover functional results after 24 months in all groups were similar (p = 0.046). Anastomosis with or without pouch does not influence postoperative lethality. The incidence of complications and suture leakage is higher in cases of straight anastomosis; however, this finding is not statistically significant. Necrosis was observed only in patients for whom anastomosis with pouches were performed.
Conclusion. Comparison of functional results after 3, 6, 9, 12 and 24 months showed no statistically significant differences among the groups.The necrosis of pulled-down bowel was observed only in the pouch groups.

Keywords: rectal cancer, anastomosis, J-pouch, coloplasty, functional results
Integral approach to the quality of life conditioned by health
Authors: JUOZULYNAS Algirdas , BUTIKIS Mindaugas , VENALIS Algirdas , NARKAUSKAITĖ Laura , JURGELĖNAS Antanas
Published: July 2012

Background. Currently, there are a lot of methodologies for evaluating the quality of life both in West Europe and in the USA. The majority of them are grounded on the multi-disciplinary, systemic principles. Meanwhile, in some countries and in Lithuania, the studies of the quality of life are more focused on the fields of health and medicine. According to the modern conception of sustainable development, the quality of life is a result of an integral interaction of quality of life indicators. The modern concept of the quality of life is a particular social construct comprising different social dimensions.
Materials and methods. A sample of 1 200 persons was formed under the quota of age and gender. Its main point is that the health, social, economic, environmental and age elements of the quality of life comprise an integral, purposeful social system. Statistical analysis was carried out using SPSS 17.0. The data were analyzed using the method of factorial analysis which accounts for the correlations among all indicators. Six latent factors were determined, and they explained 45.55% of the general dispersion. The position of beliefs was determined as the underlying latent factor formed by spiritual and social indicators. This factor explained 10.51% of the general dispersion. Also, in the systematic process, another latent factor – the need for medical services – plays an important role which increases with age, especially in people aged over 50 years.
Results. The results showed that at about 50 years all latent factors acquire negative values, i. e. at the age of about 46–50 years the social risk of the quality of life, determined by health, becomes greater.
Conclusions. The research helped to determine qualitative changes in the quality of life at the age of 45–50 years when essential changes in the priorities of the quality of life occur in all its domains.

Keywords: integral approach, quality of life, social link, integrity
Diffusion-weighted magnetic resonance imaging of cervical cancer
Authors: ATSTUPĖNAITĖ Vaida , BASEVIČIUS Algidas , KRIMELIS Adrijus , INČIŪRA Artūras , VAITKIENĖ Daiva
Published: July 2012

Background. Diffusion-weighted magnetic resonance imaging (DW–MRI) has been employed in the diagnostics of malignant tumors of abdomen and pelvis relatively recently. Nowadays, there exists a particular interest in adaptation DW–MRI for assessing the response of tumors to chemoradiaton therapy. The aim of our study was to compare the mean value of the apparent diffusion coefficient (ADC) in a healthy cervix, cancer-affected cervix and a cervix after chemoradiation therapy, as well as to identify the ADC range typical of cervical cancer.
Materials and methods. The study enrolled 108 female patients who underwent pelvic MRI in the Lithuanian University of Health Sciences Kaunas Clinics Hospital in 2008–2010. The study group consisted of 65 patients in whom cervical cancer had been clinically suspected and confirmed by biopsy before MRI examination. All these patients underwent pelvic MRI twice: before the chemoradiation therapy and 6 months after the therapy. The control group consisted of 43 patients in whom cervical cancer had been not suspected and MRI was performed because of other pelvic diseases.
Results. The mean ADC value of the study group (0.658 ± 0.118 × 10–3 mm2/s) was lower than of the control group (1.171 ± 0.143 × 10–3 mm2/s) (t = 20.315, p = 0.03). The ADC threshold value of 0.945 × 10–3 mm2/s was defined, differentiating the cancer-affected cervical tissue from the normal. The mean ADC value of the patients who responded to chemoradiation therapy (1.111 ± 0.138 × 10–3 mm2/s) increased and in those who did not respond it remained lower (0.733 ± 0.073 × 10–3 mm2/s) (t = 9.518, p = 0.04). The ADC threshold value of 0.830 × 10–3 mm2/s was defined, differentiating the residual tumor tissue from the healthy cervical tissue after chemoradiation therapy.
Conclusions. The ADC value in the case of cervical cancer was significantly lower than in the non-affected cervical tissue. The ADC value increases after effective chemoradiation therapy and becomes closer to the coefficient value of non-affected cervical tissue, but still remains lower. The 0.945 × 10–3 mm2/s ADC threshold was detected while differentiating between cancer-affected and normal cervical tissues, while the ADC threshold was 0.830 × 10–3 mm2/s when differentiating between residual tumor tissue and healthy cervical tissue after chemoradiation therapy at a high sensitivity and specificity.

Keywords: diffusion-weighted magnetic resonance imaging, apparent diffusion coefficient, cervical cancer, chemoradiation therapy
Surgical treatment of colorectal cancer liver metastases
Authors: ŠIMČIKAS Dainius , PAŠKONIS Marius , SOKOLOVAS Vitalijus , POŠKUS Eligijus , STRUPAS Kęstutis
Published: July 2012

Background. Colorectal cancer is a major health problem. Approximately 25% of the patients present with liver metastases at initial diagnosis and more than 50% develop metastases in the course of illness. Over the last few decades, with improvements in therapy, the management of colorectal liver metastases has changed dramatically. In this review, we explore various current modalities of care, with surgical treatment ahead, for patients with colorectal liver metastases and present a brief report about the Vilnius University Hospital Santariskiu Clinics experience in the surgical treatment of metastatic liver disease.
Methods. The Medline / PubMed literature database was searched for articles on the topics of colorectal liver metastases, including criteria of surgical resectability, chemotherapy, adjunctive and locoregional therapies. Also, results of the surgical treatment of liver metastases at the Vilnius University Hospital Santariskiu Clinics were analysed.
Results. Globally, surgical liver resection for colorectal liver metastases remains the only regular curative treatment with the 5-year survival rates reported as 20–50%. With improvements in therapy, resectability criteria are expanding. Hepatic metastases are primarily resectable in 15–25% cases only. Up to 25% of patients with initially non-resectable metastases become amenable to a potentially curative operation after interdisciplinary treatment involving preoperative chemotherapy, portal vein embolization or ligation, few-stage hepatectomy, and / or locally ablative procedures. We observed good and optimistic survival results in the Vilnius University Hospital Santariskiu Clinics patient population after liver resection: 1-, 2- and 3-year survival was 86.9%, 63.5% and 42.3%, respectively.
Conclusions. Over the last ten years, liver surgery has changed dramatically. A thorough selection of patients with colorectal liver metastases in a multidisciplinary team may improve treatment results significantly. Surgical treatment results for liver metastases at the Vilnius University Hospital Santariskiu Clinics are good.

Keywords: colorectal liver metastases, liver resection, ablation, chemotherapy, portal vein embolisation
ÉTICA E SIGILO NA EMPRESA E OS PROFISSIONAIS DE SECRETARIADO
Authors: Whitaker Maria do Carmo , Cavalcanti Thais Novaes
Published: July 2012

Este trabalho pretende demonstrar, fundamentado em aspectos teóricos e pesquisa de campo, a importância da preservação do sigilo no dia a dia, no contexto de uma “empresa ética”. Relata como essa prática, além de solidificar a imagem da organização, pode garantir a existência de alto nível de confiança e respeito entre seus participantes. Ressalta a grande importância do profissional de secretariado nessa missão. Além de se tratar de uma profissão regulamentada, que possui um código de ética com determinações explícitas sobre a importância do segredo profissional, tem no sigilo como um dos atributos exigidos para o exercício da função. Os secretários e as secretárias estão cientes e convictos da necessidade do sigilo não só no exercício de sua profissão, mas na sua vida privada, considerando que o interesse privado não deve prevalecer sobre o interesse público.
Semibatch RAFT polymerization for branched polyacrylamide production: Effect of divinyl monomer feeding policies
Authors: Wang Dunming , Wang Wen‐Jun , Li Bo‐Geng , Zhu Shiping
Published: July 2012

Star and hyperbranched polyacrylamides (s‐PAMs and b‐PAMs) were synthesized via semibatch RAFT copolymerization of acrylamide (AM) and N,N′‐methylenebisacrylamide (BisAM) using four monomer feeding policies. The BisAM to chain transfer agent (CTA) ratios from 1 to 40 at a constant [AM]0/[CTA]0 of 600 were investigated at 60°C. The s‐PAMs with the number of arms of 1.4–12.8 and 1.8–8.4 were, respectively, produced by arm‐first (AF) and core‐first (CF) approaches, whereas the b‐PAMs having the branching density of 1.34–13.1C/1000Cs were synthesized by constant BisAM feeding (semibatch polymerization, SB) and batch (batch polymerization, BA). Soluble b‐PAMs were produced with the four feeding policies at [BisAM]0/[CTA]0 of 5. However, when the [BisAM]0/[CTA]0 was increased to 30, the gelation occurred with the CF and BA approaches while the AF and SB synthesized soluble branched PAMs. The AF and SB approaches appeared to be practical in producing the respective s‐PAM and b‐PAM at high [BisAM]0/[CTA]0 ratios or low CTA usages. © 2012 American Institute of Chemical Engineers AIChE J, 59: 1322–1333, 2013
The prevalence of selected potentially hazardous workplace exposures in the US: Findings from the 2010 National Health Interview Survey
Authors: Calvert Geoffrey M. , Luckhaupt Sara E. , Sussell Aaron , Dahlhamer James M. , Ward Brian W.
Published: July 2012

Objective

Assess the national prevalence of current workplace exposure to potential skin hazards, secondhand smoke (SHS), and outdoor work among various industry and occupation groups. Also, assess the national prevalence of chronic workplace exposure to vapors, gas, dust, and fumes (VGDF) among these groups.

Methods

Data were obtained from the 2010 National Health Interview Survey (NHIS). NHIS is a multistage probability sample survey of the civilian non‐institutionalized population of the US. Prevalence rates and their variances were calculated using SUDAAN to account for the complex NHIS sample design.

Results

The data for 2010 were available for 17,524 adults who worked in the 12 months that preceded interview. The highest prevalence rates of hazardous workplace exposures were typically in agriculture, mining, and construction. The prevalence rate of frequent handling of or skin contact with chemicals, and of non‐smokers frequently exposed to SHS at work was highest in mining and construction. Outdoor work was most common in agriculture (85%), construction (73%), and mining (65%). Finally, frequent occupational exposure to VGDF was most common among mining (67%), agriculture (53%), and construction workers (51%).

Conclusion

We identified industries and occupations with the highest prevalence of potentially hazardous workplace exposures, and provided targets for investigation and intervention activities. Am. J. Ind. Med. 56:635–646, 2013. © 2012 Wiley Periodicals, Inc.
Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
Authors: Allanson Judith , Smith Amanda , Hare Heather , Albrecht Beate , Bijlsma Emilia , Dallapiccola Bruno , Donti Emilio , Fitzpatrick David , Isidor Bertrand , Lachlan Katherine , Le Caignec Cedric , Prontera Paolo , Raas‐Rothschild Annick , Rogaia Daniela , van Bon Bregje , Aradhya Swaroop , Crocker Susan F. , Jarinova Olga , McGowan‐Jordan Jean , Boycott Kym , Bulman Dennis , Fagerberg Christina Ringmann
Published: July 2012

Nablus mask‐like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few years, several individuals with NMLFS have been reported to have a microdeletion of 8q21.3q22.1, demonstrated by microarray analysis. The minimal overlapping region is 93.98–96.22 Mb (hg19). Here we present clinical and microarray data from five singletons and two mother‐child pairs who have heterozygous deletions significantly overlapping the region associated with NMLFS. Notably, while one mother and child were said to have mild tightening of facial skin, none of these individuals exhibited reduced facial expression or the classical facial phenotype of NMLFS. These findings indicate that deletion of the 8q21.3q22.1 region is necessary but not sufficient for development of the NMLFS. We discuss possible genetic mechanisms underlying the complex pattern of inheritance for this condition. © 2012 Wiley Periodicals, Inc.
Chronic tibial nonunion in a Rothmund–Thomson syndrome patient
Authors: Carlson Aaron M. , Thomas Kristen B. , Kirmani Salman , Lindor Noralane M.
Published: July 2012

Rothmund–Thomson syndrome (RTS) is an autosomal recessive disorder caused by biallelic mutations in RECQL4, a helicase involved with chromosomal instability and DNA repair. Patients typically present with a poikilodermatous facial rash, photosensitivity, congenital bony abnormalities, short stature, and have a predilection for osteosarcoma and cutaneous malignancies. We present a 34‐year‐old male RTS patient, previously diagnosed with osteosarcoma of the right forearm which was successfully treated with resection and chemotherapy, who has had multiple tibial fractures and has suffered from chronic nonunion of the proximal tibias bilaterally for greater than 9 years. The patient subsequently developed generalized lower extremity osteopenia with normal calcium homeostasis and calcitriol levels. As the RTS population continues to reach greater ages we must be mindful of other health concerns that may develop. Bone health is one considerable concern with a large portion of patients having congenital bony abnormalities and many receiving chemotherapy for osteosarcoma. We conclude that screening for bone health and supplementation with calcium and vitamin D may be warranted in RTS patients with a history of fractures and osteosarcoma treatment. © 2012 Wiley Periodicals, Inc.
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation
Authors: Kantaputra Piranit Nik , Chinadet Wannapa , Ohazama Atsushi , Kono Michihiro
Published: July 2012

We report on a father and his two children who are affected with dyschromatosis symmetrica hereditaria (DSH). Mutation analysis of ADAR1 gene demonstrated a novel splice acceptor site mutation in intron 10, IVS10‐2A>C. The hair on the forearm of the affected father became longer, larger in diameter, and hypopigmented (white) after age 40 years. Hyperpigmented hair was also found in normal and hypopigmented skin. The colors of the hair and the skin did not correlate. Transmission electron micrography of cortical keratinocytes of the hair follicles showed that normal hair contained more keratinocytes than those of hyperpigmented and hypopigmented hair. The keratinocytes of the hyperpigmented hair were larger than those of normal and hypopigmented hair and those of the normal hair were larger than those of the hypopigmented hair. The affected daughter had dens evaginatus of the mandibular right second premolar and the son had dens invaginatus of the maxillary permanent lateral incisors. Expression of Adar1 gene during mouse tooth development is demonstrated. © 2012 Wiley Periodicals, Inc.
A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male–male transmission
Authors: Murphy‐Ryan Maureen , Kirmani Salman , Thompson Dana Mara , Binkovitz Larry A. , Thomas Kristen B. , Babovic‐Vuksanovic Dusica
Published: July 2012

We report on a father and his 4‐year‐old son sharing a characteristic dysmorphic facial phenotype (including hyperteleroism, prominent forehead, and wide nasal bridge), macrocephaly, hearing loss, palatal clefting, developmental delay, hypotonia and bony abnormalities including marked cranial sclerosis and sclerosis of the ribs and long bones, which evolved in severity in the son between the ages of 2 and 4 years. The father's radiographs also showed prominent coarse striations, patchy metaphyseal sclerotic plaques, markedly increased bone density and cortical thickening of long bones, and significant degenerative changes in the thoracic spine. The son has an additional history of sleep apnea resulting from multi‐level airway obstruction that includes adenoid hypertrophy, lingual tonsil hypertrophy, subglottic stenosis, and supra‐arytenoid tissue consistent with laryngomalacia and tracheomalacia. The clinical, radiographic, and genetic findings in father and son are consistent with a sclerosing skeletal dysplasia syndrome with similarities to mixed sclerosing bone dysplasia (MSBD) including metaphyseal plaques, osteopathia striata, and cranial sclerosis (OS–CS). This family may represent one of the first descriptions of familial inheritance and evolving phenotype in MSBD. The evidence for male–male transmission would support the existence of an autosomal mechanism of inheritance for a novel form of MSBD with characteristic syndromic features. © 2012 Wiley Periodicals, Inc.
The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research
Authors: Acosta Maria T. , Bearden Carrie E. , Castellanos Xavier F. , Cutting Laurie , Elgersma Ype , Gioia Gerard , Gutmann David H. , Lee Yong‐Seok , Legius Eric , Muenke Maximillian , North Kathryn , Parada Luis F. , Ratner Nancy , Hunter‐Schaedle Kim , Silva Alcino J.
Published: July 2012

Learning disabilities and other cognitive disorders represent one of the most important unmet medical needs and a significant source of lifelong disability. To accelerate progress in this area, an international consortium of researchers and clinicians, the Learning Disabilities Network (LeaDNet), was established in 2006. Initially, LeaDNet focused on neurofibromatosis type 1 (NF1), a common single gene disorder with a frequency of 1:3,000. Although NF1 is best recognized as an inherited tumor predisposition syndrome, learning, cognitive, and neurobehavioral deficits account for significant morbidity in this condition and can have a profound impact on the quality of life of affected individuals. Recently, there have been groundbreaking advances in our understanding of the molecular, cellular, and neural systems underpinnings of NF1‐associated learning deficits in animal models, which precipitated clinical trials using a molecularly targeted treatment for these deficits. However, much remains to be learned about the spectrum of cognitive, neurological, and psychiatric phenotypes associated with the NF1 clinical syndrome. In addition, there is a pressing need to accelerate the identification of specific clinical targets and treatments for these phenotypes. The successes with NF1 have allowed LeaDNet investigators to broaden their initial focus to other genetic disorders characterized by learning disabilities and cognitive deficits including other RASopathies (caused by changes in the Ras signaling pathway). The ultimate mission of LeaDNet is to leverage an international translational consortium of clinicians and neuroscientists to integrate bench‐to‐bedside knowledge across a broad range of cognitive genetic disorders, with the goal of accelerating the development of rational and biologically based treatments. © 2012 Wiley Periodicals, Inc.
Characteristics of suckling stimulation determine the daily duration of mother‐young contact and milk output in rabbits
Authors: González‐Mariscal Gabriela , Toribio Ariadna , Gallegos José Antonio , Serrano‐Meneses Martín A.
Published: July 2012

Rabbits nurse inside a nest once/day for 3–5 min. We quantified mother's time inside the nest box (TINB) and milk output as we varied the number and age of pups across lactation. TINB was larger and milk output smaller on lactation days 2, 3, 7, or 8, when one pup (2–3 days old) was provided, but normal on Days 4–6, when suckling eight pups. Maintaining 1, 2, or 6–8 growing pups across 30 days increased TINB in the first two groups without modifying milk intake/pup. Substituting a 15 day‐old for a newborn increased TINB (Days 15–20) and decreased milk intake/pup (Days 15–30). Substituting for a newborn on Days 5, 9, 13, 17, 21, 25, and 29 increased TINB on such days and revealed a gradual decline in TINB on the “non‐switch” days. Litter size, age, and lactation stage interact to determine TINB and milk output. © 2012 Wiley Periodicals, Inc. Dev Psychobiol 55: 809–817, 2013.
Laryngeal aging and acoustic changes in male rat ultrasonic vocalizations
Authors: Peterson Jennifer R. , Watts Christopher R. , Morris Jesse A. , Shelton John M. , Cooper Brenton G.
Published: July 2012

This study examined changes in the acoustic and temporal structure of ultrasonic vocalizations as a function of age and correlated acoustic changes with vocal fold microstructure. Ultrasonic vocalizations were recorded in three age groups of male rats: aged (24–26 months), middle‐aged (17–18 months), and young (4–5 months). Acoustic and structural changes in vocal fold tissue were evident by 18 months of age. Histological analyses revealed decreased density of elastin and hyaluronic acid and increased collagen density in the middle‐aged and aged groups compared to the young rats. Laryngeal microstructure correlated with some of the ultrasonic acoustic features. These results show that male Long Evans rats experience changes in ultrasonic acoustic structure by middle age, and these changes correlate with deterioration in laryngeal microstructure. Ultrasonic vocalizations can be used as a model system for age‐related degeneration in vocal fold structure and function. © 2012 Wiley Periodicals, Inc. Dev Psychobiol 55: 818–828, 2013.
Neonatal repetitive needle pricking: Plasticity of the spinal nociceptive circuit and extended postoperative pain in later life
Authors: Knaepen Liesbeth , Patijn Jacob , van Kleef Maarten , Mulder Mark , Tibboel Dick , Joosten Elbert A.J.
Published: July 2012

Repetitive exposure of neonates to noxious events is inherent to their health status monitoring in neonatal intensive care units (NICU). Altered basal nociception in the absence of an injury in later life has been demonstrated in ex‐NICU children, but the impact on pain hypersensitivity following an injury in later life is unknown. Also, underlying mechanisms for such long‐term changes are relatively unknown. The objective of this study is to investigate acute and long‐term effects of neonatal repetitive painful skin‐breaking procedures on nociception and to investigate plasticity of the nociceptive circuit. The repetitive needle prick animal model was used in which neonatal rats received four needle pricks into the left hind paw per day during the first postnatal week and control animals received nonpainful tactile stimuli. Repetitive needle pricking during the first week of life induced acute hypersensitivity to mechanical stimuli. At the age of 8 weeks, increased duration of postoperative hypersensitivity to mechanical stimuli after ipsilateral hind paw incision was shown in needle prick animals. Basal nociception from 3 to 8 weeks of age was unaffected by neonatal repetitive needle pricking. Increased calcitonin gene‐related peptide expression was observed in the ipsilateral and contralateral lumbar spinal cord but not in the hind paw of needle prick animals at the age of 8 weeks. Innervation of tactile Aβ‐fibers in the spinal cord was not affected. Ourresults indicate both acute and long‐term effects of repetitive neonatal skin breaking procedures on nociception and long‐term plasticity of spinal but not peripheral innervation of nociceptive afferents. © 2012 Wiley Periodicals, Inc. Develop Neurobiol, 2013
Dynamic skeletogenesis in fishes: Insight of exercise training on developmental plasticity
Authors: Grünbaum Thomas , Cloutier Richard , Vincent Bruno
Published: July 2012

Background:Through developmental and evolutionary time, organisms respond variably to their environment not only in terms of size and shape but also in terms of timing. Developmental plasticity can potentially act on various aspects of the timing of developmental events (i.e., appearance, cessation, duration, sequence). In this study, we address the developmental plasticity of median fin endoskeleton by using exercise training on newly‐hatched Arctic charr (Salvelinus alpinus).Results:Developmental progress of cartilage formation (i.e., chondrification) in all fins is less influenced than ossification by an increase of water velocity. The most responsive elements, meaning those elements with greater onset plasticity owing to a water velocity increase, differ in terms of earlyversuslate developmental events. The most responsive elements are those that chondrify and to a greater extent ossify later in the development.Conclusions:Plasticity is documented for the timing of appearance (i.e., onset) and the timing of transition from cartilage to bone (i.e., transitions of skeletal states) rather than the order of events within a sequence. Similarities of plastic response in developmental patterns could be used as a powerful criterion to strengthen the identification of phenotypic modules. Developmental Dynamics 241:1507–1524, 2012. © 2012 Wiley Periodicals, Inc.
The system N transporter SN2 doubles as a transmitter precursor furnisher and a potential regulator of NMDA receptors
Authors: Hamdani El Hassan , Gudbrandsen Marius , Bjørkmo Mona , Chaudhry Farrukh Abbas
Published: July 2012

Activation of NMDA receptor requires two co‐agonists, glutamate and glycine. Despite its intrinsic role in brain functions molecular mechanisms involved in glutamate replenishment and identification of the origin of glycine have eluded characterization. We have performed direct measurements of glycine flux by SN2 (Slc38a5; also known as SNAT5), executed extensive electrophysiological characterization as well as implemented ratiometric analyses to show that SN2 transport resembles SN1 in mechanism but differ in functional implications. We report that rat SN2 mediates electroneutral and bidirectional transport of glutamine and glycine at perisynaptic astroglial membranes. Sophisticated coupled and uncoupled movements of H+ differentially associate with glutamine and glycine transport by SN2 and regulate pHi and the release mode of the transporter. Consequently, SN2 doubles as a transmitter precursor furnisher and a potential regulator of NMDA receptors. © 2012 Wiley Periodicals, Inc.
Histone methyltransferase enhancer of zeste homolog 2 regulates Schwann cell differentiation
Authors: Heinen André , Tzekova Nevena , Graffmann Nina , Torres Klintsy Julieta , Uhrberg Markus , Hartung Hans‐Peter , Küry Patrick
Published: July 2012

Epigenetic control is crucial for the differentiation of a variety of cells including oligodendrocytes, the myelinating glial cells of the central nervous system. However, studies about the implication of epigenetic factors in peripheral nervous system maturation are just emerging. Here, we demonstrate for the first time the impact of a histone methyltransferase, encoded by the enhancer of zeste homolog 2 (EZH2) gene, on Schwann cell differentiation. In sciatic nerves, EZH2 expression was found in Schwann cells and to peak perinatally. Suppression of EZH2 expression in cultured primary rat Schwann cells reduced the length of cell processes. These morphological changes were accompanied by widespread alterations in the gene expression pattern, including downregulation of myelin genes and induction of p57kip2, which we have recently identified as an intrinsic inhibitory regulator of Schwann cell maturation. In addition, we show that EZH2 suppression in dorsal root ganglion cocultures interferes with in vitro myelination. Chromatin immunoprecipitation analysis revealed binding of EZH2 at the p57kip2 promoter and reduction of histone H3K27 trimethylation upon gene suppression. EZH2 suppression‐dependent effects on morphology and myelin genes could be reversed by concomitant suppression of p57kip2, indicating that p57kip2 is a downstream effector of EZH2. Furthermore, we describe Hes5 as transcriptional repressor of myelin genes in Schwann cells, which was induced upon EZH2 suppression and downregulated in p57kip2‐suppressed Schwann cells. Therefore, we have identified a molecular link between histone methylation and control of Schwann cell differentiation and demonstrate that this epigenetic mechanism is crucial for glial differentiation to proceed. © 2012 Wiley Periodicals, Inc.
Persistent astroglial swelling accompanies rapid reversible dendritic injury during stroke‐induced spreading depolarizations
Authors: Risher W. Christopher , Croom Deborah , Kirov Sergei A.
Published: July 2012

Spreading depolarizations are a key event in the pathophysiology of stroke, resulting in rapid dendritic beading, which represents acute damage to synaptic circuitry. The impact of spreading depolarizations on the real‐time injury of astrocytes during ischemia is less clear. We used simultaneousin vivo2‐photon imaging and electrophysiological recordings in adult mouse somatosensory cortex to examine spreading depolarization‐induced astroglial structural changes concurrently with signs of neuronal injury in the early periods of focal and global ischemia. Astrocytes in the metabolically compromised ischemic penumbra‐like area showed a long lasting swelling response to spontaneous spreading depolarizations despite rapid dendritic recovery in a photothrombotic occlusion model of focal stroke. Astroglial swelling was often facilitated by recurrent depolarizations and the magnitude of swelling strongly correlated with the total duration of depolarization. In contrast, spreading depolarization‐induced astroglial swelling was transient in normoxic healthy tissue. In a model of transient global ischemia, the occurrence of a single spreading depolarization elicited by a bilateral common carotid artery occlusion coincided with astroglial swelling alongside dendritic beading. With immediate reperfusion, dendritic beading subsides. Astroglial swelling was either transient during short ischemic periods distinguished by a short‐lasting spreading depolarization, or persistent during severe ischemia characterized by a long‐lasting depolarization with the ultraslow negative voltage component. We propose that persistent astroglial swelling is initiated and exacerbated during spreading depolarization in brain tissue with moderate to severe energy deficits, disrupting astroglial maintenance of normal homeostatic function thus contributing to the negative outcome of ischemic stroke as astrocytes fail to provide neuronal support. © 2012 Wiley Periodicals, Inc.
Development and parameterization of an infiltration model accounting for water depth and rainfall intensity
Authors: Langhans Christoph , Govers Gerard , Diels Jan
Published: July 2012

Experimental work has clearly shown that the effective hydraulic conductivity (Ke) or effective infiltration rate (fe) on the local scale of a plot cannot be considered as constant but are dependent on water depth and rainfall intensity because non‐random microtopography‐related variations in hydraulic conductivity occur. Rainfall–runoff models generally do not account for this: models assume that excess water is uniformly spread over the soil surface and within‐plot variations are neglected. In the present study, we propose a model that is based on the concepts of microtopography‐related water depth‐dependent infiltration and partial contributing area. Expressions for the plot scale Ke and fe were developed that depend on rainfall intensity and runon from upslope (and thus on water depth).

To calibrate and validate the model, steady state infiltration experiments were conducted on maize fields on silt loam soils in Belgium, with different stages and combinations of rainfall intensity and inflow, simulating rainfall and runon. Water depth–discharge and depth–inundation relationships were established and used to estimate the effect of inundation on Ke. Although inflow‐only experiments were found to be unsuitable for calibration, the model was successfully calibrated and validated with the rainfall simulation data and combined rainfall–runon data (R²: 0.43–0.91).

Calibrated and validated with steady state infiltration experiments, the model was combined with the Green–Ampt infiltration equation and can be applied within a two‐dimensional distributed rainfall–runoff model. The effect of water depth–dependency and rainfall intensity on infiltration was illustrated for a hillslope. Copyright © 2012 John Wiley & Sons, Ltd.