bluuebunny/crossref_metadata_2025 huggingface dataset:
Observation of horizontal winds in the middle-atmosphere between 30° S and 55° N during the northern winter 2009–2010
Authors: Baron P. , Murtagh D. P. , Urban J. , Sagawa H. , Ochiai S. , Kasai Y. , Kikuchi K. , Khosrawi F. , Körnich H. , Mizobuchi S. , Sagi K. , Yasui M.
Published: June 2013

Abstract. Although the links between stratospheric dynamics, climate and weather have been demonstrated, direct observations of stratospheric winds are lacking, in particular at altitudes above 30 km. We report observations of winds between 8 and 0.01 hPa (~35–80 km) from October 2009 to April 2010 by the Superconducting Submillimeter-Wave Limb-Emission Sounder (SMILES) on the International Space Station. The altitude range covers the region between 35–60 km where previous space-borne wind instruments show a lack of sensitivity. Both zonal and meridional wind components were obtained, though not simultaneously, in the latitude range from 30° S to 55° N and with a single profile precision of 7–9 m s–1 between 8 and 0.6 hPa and better than 20 m s–1 at altitudes above. The vertical resolution is 5–7 km except in the upper part of the retrieval range (10 km at 0.01 hPa). In the region between 1–0.05 hPa, an absolute value of the mean difference < 2 m s–1 is found between SMILES profiles retrieved from different spectroscopic lines and instrumental settings. Good agreement (absolute value of the mean difference of ~2 m s–1) is also found with the European Centre for Medium-Range Weather Forecasts (ECMWF) analysis in most of the stratosphere except for the zonal winds over the equator (difference > 5 m s−1). In the mesosphere, SMILES and ECMWF zonal winds exhibit large differences (> 20 m s–1), especially in the tropics. We illustrate our results by showing daily and monthly zonal wind variations, namely the semi-annual oscillation in the tropics and reversals of the flow direction between 50–55° N during sudden stratospheric warmings. The daily comparison with ECMWF winds reveals that in the beginning of February, a significantly stronger zonal westward flow is measured in the tropics at 2 hPa compared to the flow computed in the analysis (difference of ~20 m s–1). The results show that the comparison between SMILES and ECMWF winds is not only relevant for the quality assessment of the new SMILES winds, but it also provides insights on the quality of the ECMWF winds themselves. Although the instrument was not specifically designed for measuring winds, the results demonstrate that space-borne sub-mm wave radiometers have the potential to provide good quality data for improving the stratospheric winds in atmospheric models.
Towards a more objective evaluation of modelled land-carbon trends using atmospheric CO2 and satellite-based vegetation activity observations
Authors: Dalmonech D. , Zaehle S.
Published: June 2013

Abstract. Terrestrial ecosystem models used for Earth system modelling show a significant divergence in future patterns of ecosystem processes, in particular the net land–atmosphere carbon exchanges, despite a seemingly common behaviour for the contemporary period. An in-depth evaluation of these models is hence of high importance to better understand the reasons for this disagreement. Here, we develop an extension for existing benchmarking systems by making use of the complementary information contained in the observational records of atmospheric CO2 and remotely sensed vegetation activity to provide a novel set of diagnostics of ecosystem responses to climate variability in the last 30 yr at different temporal and spatial scales. The selection of observational characteristics (traits) specifically considers the robustness of information given that the uncertainty of both data and evaluation methodology is largely unknown or difficult to quantify. Based on these considerations, we introduce a baseline benchmark – a minimum test that any model has to pass – to provide a more objective, quantitative evaluation framework. The benchmarking strategy can be used for any land surface model, either driven by observed meteorology or coupled to a climate model. We apply this framework to evaluate the offline version of the MPI Earth System Model's land surface scheme JSBACH. We demonstrate that the complementary use of atmospheric CO2 and satellite-based vegetation activity data allows pinpointing of specific model deficiencies that would not be possible by the sole use of atmospheric CO2 observations.
A volcanically triggered regime shift in the subpolar North Atlantic Ocean as a possible origin of the Little Ice Age
Authors: Schleussner C. F. , Feulner G.
Published: June 2013

Abstract. Among the climatological events of the last millennium, the Northern Hemisphere Medieval Climate Anomaly succeeded by the Little Ice Age are of exceptional importance. The origin of these regional climate anomalies remains a subject of debate and besides external influences like solar and volcanic activity, internal dynamics of the climate system might have also played a dominant role. Here, we present transient last millennium simulations of the fully coupled model of intermediate complexity Climber 3α forced with stochastically reconstructed wind-stress fields. Our results indicate that short-lived volcanic eruptions might have triggered a cascade of sea ice–ocean feedbacks in the North Atlantic, ultimately leading to a persistent regime shift in the ocean circulation. We find that an increase in the Nordic Sea sea-ice extent on decadal timescales as a consequence of major volcanic eruptions in our model leads to a spin-up of the subpolar gyre and a weakened Atlantic meridional overturning circulation, eventually causing a persistent, basin-wide cooling. These results highlight the importance of regional climate feedbacks such as a regime shift in the subpolar gyre circulation for understanding the dynamics of past and future climate.
Documentary-derived chronologies of rainfall variability in Antigua, Lesser Antilles, 1770–1890
Authors: Berland A. J. , Metcalfe S. E. , Endfield G. H.
Published: June 2013

Abstract. This paper presents the first extensive reconstruction of precipitation variability in the Lesser Antilles using historical documentary sources. Over 13 250 items of documentation pertaining to Antigua from the period 1769–1890 were consulted, including missionary, plantation and governmental papers as well as contemporary scholarly publications. Based on the predominant meteorological conditions observed throughout the island, each "rain-year" (December–November) was assigned one of five classifications (very wet, wet, "normal", dry and very dry). Local weather references relating to seven plantations in central-eastern Antigua were grouped according to dry (December–April) and wet seasons (May–November), each of which were also categorised in the aforementioned manner. Results comprise individual island-wide and central-eastern Antiguan chronologies of relative precipitation levels, spanning the rain-years 1769–70 to 1889–90 and 1769–70 to 1853–54 respectively. The former is compared with available instrumental data for the years 1870–1890. Significant dry phases are identified in the rain-years 1775–80, 1788–91, 1820–22, 1834–37, 1844–45, 1859–60, 1862–64, 1870–74 and 1881–82, while wet episodes were 1771–74, 1833–34, 1837–38, 1841–44, 1845–46 and 1878–81. Evidence for major wet and dry spells is presented and findings are evaluated within wider historical and palaeoclimatic contexts.
Sea ice draft in the Weddell Sea, measured by upward looking sonars
Authors: Behrendt A. , Dierking W. , Fahrbach E. , Witte H.
Published: June 2013

Abstract. The presented database contains time-referenced sea ice draft values from upward looking sonar (ULS) measurements in the Weddell Sea, Antarctica. The sea ice draft data can be used to infer the thickness of the ice. They were collected during the period 1990–2008. In total, the database includes measurements from 13 locations in the Weddell Sea and was generated from more than 3.7 million measurements of sea ice draft. The files contain uncorrected raw drafts, corrected drafts and the basic parameters measured by the ULS. The measurement principle, the data processing procedure and the quality control are described in detail. To account for the unknown speed of sound in the water column above the ULS, two correction methods were applied to the draft data. The first method is based on defining a reference level from the identification of open water leads. The second method uses a model of sound speed in the oceanic mixed layer and is applied to ice draft in austral winter. Both methods are discussed and their accuracy is estimated. Finally, selected results of the processing are presented. The data can be downloaded from doi:10.1594/PANGAEA.785565.
Apoptotic Effects of Topical Antiglaucoma Medications on Conjunctival Epithelium in Glaucoma Patients
Authors: Arici Mustafa Kemal , Arici Dilek Sema , Özeç Ayşe Vural , Dursun Ayhan , Toker Mustafa İlker , Erdoğan Haydar
Published: June 2013

Purpose

In this study, we aimed to investigate the apoptotic effects of topical antiglaucoma medications on the conjunctival epithelium.

Methods

A total of 65 patients were included in the study. Thirty patients were included in the first group who had received antiglaucomatous therapy before trabeculectomy. In the second group, 20 patients who had received no drugs before trabeculectomy were included, while the third group underwent only cataract surgery as control. During the surgery, 2 × 4 mm conjunctival samples were harvested from the upper bulbar conjunctiva. The mean apoptosis rate was calculated by determining apoptosis at conjunctival epithelium using the terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL) method.

Results

The mean apoptosis rate was 0.537 ± 0.369 (0.026 ± 0.962) in group 1, 0.139 ± 0.162 (0.005 ± 0.676) in group 2, and 0.078 ± 0.035 (0.035 ± 0.142) in the control group (group 3). The mean apoptosis rate was significantly higher in the first group than the other 2 groups (p = 0.0001).

Conclusions

Apoptotic effects of topical antiglaucoma drugs on the conjunctival epithelial cells were found. However, our results revealed that the number of medications, duration of medication, and type of glaucoma had no effect on the apoptotic effect.
Septoglomus deserticola emended and new combinations in the emended definition of the family Diversisporaceae
Authors: Błaszkowski Janusz , Chwat Gerard
Published: June 2013

An updated morphology of spores of Septoglomus deserticola, an arbuscular mycorrhizal fungus of the phylum Glomeromycota, is presented based on the original description of the species, only one other its definition recently published and spores produced in pot cultures inoculated with the rhizosphere soil and root fragments of an unrecognized grass colonizing maritime sand dunes of the Hicacos Peninsula, Cuba. Phylogenetic analyses of sequences of the large subunit (LSU) nrDNA region of the Cuban fungus confirmed its affinity with S. deserticola deposited in the International Bank for the Glomeromycota (BEG) and indicated that its closest relatives are S. fuscum and S. xanthium. Phylogenetic analyses of sequences of the small subunit (SSU) nrDNA confirmed the Cuban fungus x S. fuscum x S. xanthium relationship revealed in analyses of the LSU sequences and thereby suggested the Cuban Septoglomus is S. deserticola. However, it was impossible to prove directly the identity of the Cuban fungus and S. deserticola from BEG based on SSU sequences due to the lack of S. deserticola SSU sequences in public databases. In addition, phylogenetic analyses of LSU and SSU sequences confirmed the uniqueness of the recently erected genus Corymbiglomus with the type species C. corymbiforme (formerly Glomus corymbiforme) in the family Diversisporaceae and proved that its LSU sequences group in a clade with LSU sequences of G. globiferum and G. tortuosum. Consequently, the two latter species were transferred to Corymbiglomus and named C. globiferum comb. nov. and C. tortuosum comb. nov., and the definitions of the family Diversisporaceae and the genus Diversispora were emended.
Saving Energy in the GFRP Pultrusion Process
Authors: Silva F.J.G. , Ribeiro M.C.S. , Castro A.C.M. , Alvim M.R. , Meixedo J.P. , Fiúza A. , Dinis M.L.
Published: June 2013

This study addresses to the optimization of pultrusion manufacturing process from the energy-consumption point of view. The die heating system of external platen heaters commonly used in the pultrusion machines is one of the components that contribute the most to the high consumption of energy of pultrusion process. Hence, instead of the conventional multi-planar heaters, a new internal die heating system that leads to minor heat losses is proposed. The effect of the number and relative position of the embedded heaters along the die is also analysed towards the setting up of the optimum arrangement that minimizes both the energy rate and consumption. Simulation and optimization processes were greatly supported by Finite Element Analysis (FEA) and calibrated with basis on the temperature profile computed through thermography imaging techniques.
The main outputs of this study allow to conclude that the use of embedded cylindrical resistances instead of external planar heaters leads to drastic reductions of both the power consumption and the warm-up periods of the die heating system. For the analysed die tool and process, savings on energy consumption up to 60% and warm-up period stages less than an half hour were attained with the new internal heating system. The improvements achieved allow reducing the power requirements on pultrusion process, and thus minimize industrial costs and contribute to a more sustainable pultrusion manufacturing industry.
De la thermoception à la perception auditive : en quête de l’identité du son « froid »
Authors: Traube Caroline
Published: June 2013

La description du son peut prendre mille et un visages, de l’onomatopée à la métaphore. En musique, parmi les analogies fréquemment employées, on retrouve des descripteurs faisant référence à différentes modalités sensorielles : brillant, sombre (vision), rugueux, lisse (toucher), velouté, aigre (goût). La thermoception – la perception de la température via des récepteurs cutanés – n’est pas en reste puisque la chaleur du son est un attribut régulièrement utilisé par les musiciens pour décrire le timbre ou la qualité du son. Ainsi, le son « chaud » est un son à la fois rond, doux et ouvert, et le son « froid » est généralement de caractères métallique, brillant et mince. Dans cet article, nous présenterons une synthèse d’études sur la perception auditive et la sémantique du timbre qui ont investigué les descripteurs verbaux reliés à la chaleur ou à la froideur du son ainsi que leurs corrélats acoustiques. Nous tenterons également de présenter quelques hypothèses sur les origines multisensorielles de la perception de cette qualité sonore.
L’enfant borderline en devenir : pourquoi s’y intéresser?
Authors: Dubé Geneviève , Terradas Miguel M. , Arsenault Sophie , Lallier Beaudoin Marie-Claude , Pesant Stéphanie
Published: June 2013

Le trouble de personnalité limite (TPL) est une psychopathologie sévère dont les précurseurs remontent à l’enfance. À partir de cette prémisse, l’objectif de cet article est de présenter la controverse qui entoure la présence, dès l’enfance, de traits de personnalité pathologiques reliés au TPL. En effet, bien que le DSM-IV-TR (APA, 2003) déconseille le diagnostic de TPL chez les enfants, d’autres outils diagnostiques soulignent que des traits inadaptés peuvent effectivement être identifiés précocement. Par ailleurs, plusieurs auteurs appuient l’hypothèse selon laquelle le développement des enfants serait compromis par la présence de traits de TPL, faisant d’eux des enfants borderline en devenir. Devant la perspective que les traits inadaptés de l’enfance se maintiennent à l’adolescence et à l’âge adulte, l’article souligne le besoin indispensable de développer des instruments de mesure dimensionnels permettant d’identifier les enfants à risque afin de favoriser les interventions précoces et de renverser le processus développemental pathologique en cours.
L’intervention en contexte de cyberintimidation : les pratiques des enseignants
Authors: Roy Émilie Myriam , Beaumont Claire
Published: June 2013

La cyberintimidation est une forme de violence de plus en plus préoccupante pour la société et pour le milieu scolaire. Souvent commises dans Internet ou sur le téléphone cellulaire, les agressions ont des conséquences psychologiques, sociales et scolaires très graves chez les victimes, les agresseurs et les témoins, et il est important d’intervenir adéquatement. Cette étude vise à mieux connaître les types d’intervention utilisés par les enseignants auprès des élèves qui ont des comportements de cyberintimidation et à mieux comprendre les bases qui expliquent ces choix d’intervention. Des entrevues menées auprès de 10 enseignants des 7e, 8eet 9eannées ont permis de relever leurs interventions les plus courantes pour gérer et traiter les comportements de cyberintimidation de leurs élèves, connaître leur perception de l’efficacité de ces pratiques et explorer les fondements théoriques sur lesquels ils s’appuient dans leurs choix d’intervention. L’analyse de leurs témoignages, mise en perspective avec la littérature scientifique sur le sujet, permet de proposer un nouveau modèle d’intervention auprès des auteurs de cyberintimidation. Après avoir confronté les résultats au modèle d’intervention d’Hinduja et Patchin (2009), les auteures suggèrent de nouvelles pistes d’intervention pour améliorer la formation des enseignants dans ce domaine.
La résolution de problèmes des parents d’enfants ayant une déficience intellectuelle
Authors: Tremblay Natasha , Lachance Lise , Côté Alain , Richer Louis
Published: June 2013

Les études concernant le stress et la santé psychologique des parents d’enfants ayant une déficience intellectuelle ont donné lieu à des résultats contradictoires quant aux différences intersexes. La présente recherche compare les mères et les pères d’enfants ayant une déficience intellectuelle à l’égard de leur stress parental, de leur détresse, de leur bien-être et de leur habileté à résoudre des problèmes. L’échantillon comprend 111 mères et 88 pères ayant complété un questionnaire auto-administré. Les résultats montrent que les différences entre les parents tendent à disparaître lorsque des facteurs contextuels sont considérés. Toutefois, l’orientation négative à l’égard des problèmes se révèle une dimension importante dans l’adaptation des parents face au stress, car elle est reliée à leur santé psychologique. Il pourrait donc s’agir d’une cible d’intervention à privilégier.
When the time is ripe
Authors: Brady Siobhan M
Published: June 2013

The diverse effects of the plant hormone ethylene on development and growth are shaped by the actions of a master regulator of transcription, EIN3.
A Fast pH‐Switchable and Self‐Healing Supramolecular Hydrogel Carrier for Guided, Local Catheter Injection in the Infarcted Myocardium
Authors: Bastings Maartje M. C. , Koudstaal Stefan , Kieltyka Roxanne E. , Nakano Yoko , Pape A. C. H. , Feyen Dries A. M. , van Slochteren Frebus J. , Doevendans Pieter A. , Sluijter Joost P. G. , Meijer E. W. , Chamuleau Steven A. J. , Dankers Patricia Y. W.
Published: June 2013

Minimally invasive intervention strategies after myocardial infarction use state‐of‐the‐art catheter systems that are able to combine mapping of the infarcted area with precise, local injection of drugs. To this end, catheter delivery of drugs that are not immediately pumped out of the heart is still challenging, and requires a carrier matrix that in the solution state can be injected through a long catheter, and instantaneously gelates at the site of injection. To address this unmet need, a pH‐switchable supramolecular hydrogel is developed. The supramolecular hydrogel is switched into a liquid at pH > 8.5, with a viscosity low enough to enable passage through a 1‐m long catheter while rapidly forming a hydrogel in contact with tissue. The hydrogel has self‐healing properties taking care of adjustment to the injection site. Growth factors are delivered from the hydrogel thereby clearly showing a reduction of infarct scar in a pig myocardial infarction model.
Impact of social discrimination, job concerns, and social support on filipino immigrant worker mental health and substance use
Authors: Tsai Jenny Hsin‐Chun , Thompson Elaine Adams
Published: June 2013

Background

The personal and social impact of mental health problems and substance use on workforce participation is costly. Social determinants of health contribute significantly to health disparities beyond effects associated with work. Guided by a theory‐driven model, we identified pathways by which social determinants shape immigrant worker health.

Method

Associations between known social determinants of mental health problems and substance use (social discrimination, job and employment concerns, and social support) were examined using structural equation modeling in a sample of 1,397 immigrants from the Filipino American Community Epidemiological Study.

Results

Social discrimination and low social support were associated with mental health problems and substance use (P < 0.05). Job and employment concerns were associated with mental health problems, but not substance use.

Conclusions

The integration of social factors into occupational health research is needed, along with prevention efforts designed for foreign‐born ethnic minority workers. Am. J. Ind. Med. 56:1082–1094, 2013. © 2013 Wiley Periodicals, Inc.
Hemifacial microsomia in cat‐eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry
Authors: Quintero‐Rivera Fabiola , Martinez‐Agosto Julian A.
Published: June 2013

Cat‐Eye syndrome (CES), (OMIM 115470) also known as chromosome 22 partial tetrasomy or inverted duplicated 22q11, was first reported by Haab [1879] based on the primary features of eye coloboma and anal atresia. However, >60% of the patients lack these primary features. Here, we present a 9‐month‐old female who at birth was noted to have multiple defects, including facial asymmetry with asymmetric retrognathia, bilateral mandibular hypoplasia, branchial cleft sinus, right‐sided muscular torticollis, esotropia, and an atretic right ear canal with low‐to‐moderate sensorineural hearing loss, bilateral preauricular ear tag/pits, and two skin tags on her left cheek. There were no signs of any colobomas or anal atresia. Hemifacial microsomia (HFM) was suspected clinically. Chromosome studies and FISH identified an extra marker originated from 22q11 consistent with CES, and this was confirmed by aCGH. This report expands the phenotypic variability of CES and includes partial tetrasomy of 22q11.1–q11.21 in the differential diagnosis of HFM. In addition, our case as well as the previous association of 22q11.2 deletions and duplications with facial asymmetry and features of HFM, supports the hypothesis that this chromosome region harbors genes important in the regulation of body plan symmetry, and in particular facial harmony. © 2013 Wiley Periodicals, Inc.
Richieri‐costa and Pereira syndrome: Severe phenotype
Authors: Raskin Salmo , Souza Marcela , Medeiros Mariana C. , Manfron Mayra , Chong e Silva Debora C.
Published: June 2013

Richieri‐Costa and Pereira syndrome, described in 1992, comprises short stature, Robin sequence, cleft mandible, limb malformations, and short larynx, deformed or lack of epiglottis, and abnormal aryepiglottic folds. There are 32 reported cases, only one described outside Brazil. We describe a 4‐month‐old boy with the most severe phenotype yet reported. © 2013 Wiley Periodicals, Inc.
GAPO syndrome associated with vestibular dysfunction and hearing loss
Authors: Rapsomaniki M. , Chiarella G. , Mascaro I. , Ceravolo F. , Cassandro E. , Strisciuglio P. , Concolino D.
Published: June 2013

© 2013 Wiley Periodicals, Inc.
Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature
Authors: Vignoli Aglaia , Scornavacca Giulia Federica , Peron Angela , La Briola Francesca , Canevini Maria Paola
Published: June 2013

Interstitial deletions of the long arm of chromosome 6 represent a rare genomic disorder. Variable phenotypes has been reported in patients carrying this deletion, including facial dysmorphisms, intellectual disability/developmental delay, growth retardation and hypotonia, upper limb and cardiac malformations, and Prader–Willi (PWS)‐like features. We describe a new patient with an interstitial 6q deletion of 11.58 Mb detected by CGH‐Array, who showed facial dysmorphic features, small hands and feet, and severe dorsal scoliosis. Ataxic gait and frequent hand stereotypies were also noted. She started having seizures at 14 years, characterized by loss of consciousness, clonic jerks of the limbs, roaring breathing, fixed gaze, and generalized hypotonia. In the course of the disease she experienced cluster of seizures requiring intensive treatment. The electroencephalographic recording showed slowing of the background activity and bilateral paroxysmal activity over the posterior regions. Review of the literature done to pinpoint the epileptological features of the syndrome identified heterogeneous descriptions of the electro‐clinical picture in patients with interstitial 6q deletions. Genotype–phenotype correlations of this syndrome have been lacking until recently, when patients can be characterized with microarray‐based comparative genomic hybridization. Description of additional patients with interstitial 6q deletions will help to delineate candidate genes associated with particular phenotypes. © 2013 Wiley Periodicals, Inc.
Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria
Authors: Bartholdi Deborah , Asadollahi Reza , Oneda Beatrice , Schmitt‐Mechelke Thomas , Tonella Paolo , Baumer Alessandra , Rauch Anita
Published: June 2013

Homozygous contiguous gene deletion syndromes are rare. On 2p21, however, several overlapping homozygous gene deletion syndromes have been described, all presenting with cystinuria but otherwise distinct phenotypes. Hypotonia‐cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency. Affected individuals carry homozygous deletions including the cystinuria gene SLC3A1 and the adjacent PREPL gene. Larger homozygous deletions in this region encompassing the PPM1B, SLC3A1, PREPL, and C2orf34 (CAMKMT) genes result in a more severe phenotype, the 2p21 deletion syndrome. A phenotype intermediate to HCS and the 2p21 deletion syndrome is termed atypical HCS and is caused by deletion of SLC3A1, PREPL, and C2orf34 (CAMKMT). Using high resolution SNP array molecular karyotyping we identified two siblings with a homozygous deletion of 83 kb partially encompassing the genes PREPL and C2orf34 (CAMKMT), but not the SLC3A1 gene. The affected siblings display a recognizable phenotype which is similar to atypical HCS with regard to growth failure and neuro‐muscular features, but is characterized by lack of cystinuria. The patients also exhibit features which have not been reported to date such as cleft palate and genital abnormalities. In conclusion, we report the first patients with a homozygous 2p21 deletion syndrome without cystinuria and further delineate the complex genotype–phenotype correlations of homozygous microdeletion syndromes of this region. © 2013 Wiley Periodicals, Inc.
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44
Authors: Wang David , Zeesman Susan , Tarnopolsky Mark A. , Nowaczyk Małgorzata J.M.
Published: June 2013

Somatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3 Mb duplication on 1q43q44 that includes AKT3. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low‐set, protruding ears. The 3 Mb duplicated region contained 15 genes including AKT3. The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance. © 2013 Wiley Periodicals, Inc.
Altered lipid metabolism in gastroschisis: A novel hypothesis
Authors: Jones Kenneth Lyons , Weiss Lauren A. , Hagey Lee R. , Gonzalez Vanessa , Benirschke Kurt , Chambers Christina D.
Published: June 2013

Gastroschisis is a congenital abdominal wall defect where there is herniation of abdominal organs. Optimal maternal nutritional intake, in particular, fatty acids, are vital for proper growth and development of the fetus. This pilot case–control study explored the association of several biomarkers of fatty acids and gastroschisis. Between 2008 and 2011, we recruited 13 pregnant women in mid‐gestation who were referred to the UCSD Prenatal Center for evaluation of an abnormal maternal serum alpha‐fetoprotein (MSAFP) test and subsequently identified as carrying a baby with gastroschisis. Nine controls were selected from a false positive MSAFP or from the UCSD prenatal clinic. At enrollment, maternal blood was drawn for analysis of fatty acids. Mann–Whitney–Wilcoxon tests were used to test for mean differences between erythrocyte fatty acid biomarkers and the fatty acid lipogenic (palmitic acid: linoleic acid) and desaturation (palmitoleic acid: palmitic acid) indices and gastroschisis. Mothers carrying a baby with gastroschisis and gastroschisis babies had consistently higher levels of palmitoleic acid (all P's < 0.05), gastroschisis mothers had lower levels of oleic acid during pregnancy and at delivery, and higher levels of DHA at delivery (all P's < 0.05). The lipogenic index was significantly lower at delivery for gastroschisis mothers (P < 0.05) and the desaturation index was consistently higher in gastroschisis mothers and babies (all P's < 0.01). These findings suggest that early maternal inflammation possibly resulting from an imbalance of fatty acids, leading to a vascular disruption, may be the underlying mechanism responsible for at least some cases of gastroschisis. © 2013 Wiley Periodicals, Inc.
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication
Authors: Ballesta‐Martínez Maria Juliana , López‐González Vanesa , Dulcet Lluis Armengol , Rodríguez‐Santiago Benjamín , Garcia‐Miñaúr Sixto , Guillen‐Navarro Encarna
Published: June 2013

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is characterized by anomalies derived from an abnormal development of the first and second branchial arches, with marked inter and intra‐familial phenotypic variability. Main clinical features are defects on aural, oral, mandibular, and vertebral development. Cardiac, pulmonary, renal, skeletal, and central nervous system anomalies have also been described. Most affected individuals are isolated cases in otherwise normal families. Autosomal dominant inheritance has been observed in about 2–10% of cases and linkage analysis as well as array‐CGH analysis have detected candidate loci for OAVS offering new insights into the understanding of pathogenesis of this entity. We describe a family with clinical diagnosis of OAVS, autosomal dominant inheritance pattern, and detection of a 14q23.1 duplication of 1.34 Mb in size which segregates with the phenotype. This region contains OTX2, which is involved in the development of the forebrain, eyes, and ears, and appears to be a good candidate gene for OAVS. © 2013 Wiley Periodicals, Inc.
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
Authors: Abdel‐Salam Ghada M.H. , Abdel‐Hamid Mohamed S. , Hassan Nihal A. , Issa Mahmoud Y. , Effat Laila , Ismail Samira , Aglan Mona S. , Zaki Maha S.
Published: June 2013

We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. © 2013 Wiley Periodicals, Inc.
Myoclonic epilepsy in a child with 17q22–q23.1 deletion
Authors: Coppola Antonietta , Tostevin Anna , McTague Amy , Pressler Ronit M. , Cross J. Helen , Sisodiya Sanjay M.
Published: June 2013

Interstitial deletions of the long arm of the chromosome 17 are relatively rare. Up to 17 cases involving the q22–q23.3 band have been reported so far. A common phenotype has not yet been delineated and epilepsy has been reported in only 2 out of 17 cases. We describe a clinical phenotype of epilepsy characterized by myoclonic atonic and absence seizures in a 6‐year‐old boy carrying a de novo 17q22q23 deletion detected by oligonucleotide array comparative genomic hybridization (aCGH). © 2013 Wiley Periodicals, Inc.
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin‐binding fragment of FBN1
Authors: Wilson Brian T. , Jensen Sacha A. , McAnulty Ciaron P. , Brennan Paul , Handford Penny A.
Published: June 2013

Mutations in Fibrillin 1 (FBN1) are associated with Marfan syndrome and in some instances with the MASS phenotype (myopia, mitral valve prolapse, borderline non‐progressive aortic root dilatation, skeletal features, and striae). Potential confusion over diagnosis and management in patients with borderline features has been addressed through the revised Ghent nosology, which emphasizes the importance of aortic root dilatation and ectopia lentis as features of Marfan syndrome. The overlapping and more common mitral valve prolapse syndrome is precluded by ectopia lentis or aortic dilatation. Among these clinically related conditions, there is no compelling evidence that genotype predicts phenotype, with the exception of neonatal Marfan syndrome, mutations in which cluster within FBN1 exons 24−32. Recent reports also link two very different phenotypes to changes in FBN1. Heterozygous mutations in transforming growth factor β‐binding protein‐like domain 5 (TB5) can cause acromicric or geleophysic dysplasias—and mutations in the TB4 domain, which contains an integrin binding RGD loop, have been found in congenital scleroderma/stiff skin syndrome. We report on a variant in an evolutionarily conserved residue that stabilizes the integrin binding fragment of FBN1, associated with juvenile idiopathic arthritis, mitral valve prolapse or apparently normal phenotype in different family members. © 2013 Wiley Periodicals, Inc.
Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
Authors: Vermeer Alexa M.C. , van Engelen Klaartje , Postma Alex V. , Baars Marieke J.H. , Christiaans Imke , De Haij Simone , Klaassen Sabine , Mulder Barbara J.M. , Keavney Bernard
Published: June 2013

Left ventricular noncompaction (LVNC) is a relatively common genetic cardiomyopathy, characterized by prominent trabeculations with deep intertrabecular recesses in mainly the left ventricle. Although LVNC often occurs in an isolated entity, it may also be present in various types of congenital heart disease (CHD). The most prevalent CHD in LVNC is Ebstein anomaly, which is a rare form of CHD characterized by apical displacement and partial fusion of the septal and posterior leaflet of the tricuspid valve with the ventricular septum. Several reports of sporadic as well as familial cases of Ebstein anomaly associated with LVNC have been reported. Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β‐myosin heavy chain protein, in patients harboring this specific phenotype. Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance. © 2013 Wiley Periodicals, Inc.
A calcaneus attributable to the primitive late eocene anthropoid Proteopithecus sylviae: Phenetic affinities and phylogenetic implications
Authors: Gladman Justin T. , Boyer Doug M. , Simons Elwyn L. , Seiffert Erik R.
Published: June 2013

A well‐preserved calcaneus referrable to Proteopithecus sylviae from the late Eocene Quarry L‐41 in the Fayum Depression, Egypt, provides new evidence relevant to this taxon's uncertain phylogenetic position. We assess morphological affinities of the new specimen using three‐dimensional geometric morphometric analyses with a comparative sample of primate calcanei representing major extinct and extant radiations (n = 58 genera, 106 specimens). Our analyses reveal that the calcaneal morphology of Proteopithecus is most similar to that of the younger Fayum parapithecid Apidium. Principal components analysis places Apidium and Proteopithecus in an intermediate position between primitive euprimates and crown anthropoids, based primarily on landmark configurations corresponding to moderate distal elongation, a more distal position of the peroneal tubercle, and a relatively “unflexed” calcaneal body. Proteopithecus and Apidium are similar to cercopithecoids and some omomyiforms in having an ectal facet that is more tightly curved, along with a larger degree of proximal calcaneal elongation, whereas other Fayum anthropoids, platyrrhines and adapiforms have a more open facet with less proximal elongation. The similarity to cercopithecoids is most plausibly interpreted as convergence given the less tightly curved ectal facets of stem catarrhines. The primary similarities between Proteopithecus and platyrrhines are mainly in the moderate distal elongation and the more distal position of the peroneal tubercle, both of which are not unique to these groups. Proteopithecus and Apidium exhibit derived anthropoid features, but also a suite of primitive retentions. The calcaneal morphology of Proteopithecus is consistent with our cladistic analysis, which places proteopithecids as a sister group of Parapithecoidea. Am J Phys Anthropol 151:372–397, 2013.© 2013 Wiley Periodicals, Inc.
Viewpoints: Feeding mechanics, diet, and dietary adaptations in early hominins
Authors: Daegling David J. , Judex Stefan , Ozcivici Engin , Ravosa Matthew J. , Taylor Andrea B. , Grine Frederick E. , Teaford Mark F. , Ungar Peter S.
Published: June 2013

Inference of feeding adaptation in extinct species is challenging, and reconstructions of the paleobiology of our ancestors have utilized an array of analytical approaches. Comparative anatomy and finite element analysis assist in bracketing the range of capabilities in taxa, while microwear and isotopic analyses give glimpses of individual behavior in the past. These myriad approaches have limitations, but each contributes incrementally toward the recognition of adaptation in the hominin fossil record. Microwear and stable isotope analysis together suggest that australopiths are not united by a single, increasingly specialized dietary adaptation. Their traditional (i.e., morphological) characterization as “nutcrackers” may only apply to a single taxon,Paranthropus robustus. These inferences can be rejected if interpretation of microwear and isotopic data can be shown to be misguided or altogether erroneous. Alternatively, if these sources of inference are valid, it merely indicates that there are phylogenetic and developmental constraints on morphology. Inherently, finite element analysis is limited in its ability to identify adaptation in paleobiological contexts. Its application to the hominin fossil record to date demonstrates only that under similar loading conditions, the form of the stress field in the australopith facial skeleton differs from that in living primates. This observation, by itself, does not reveal feeding adaptation. Ontogenetic studies indicate that functional and evolutionary adaptation need not be conceptually isolated phenomena. Such a perspective helps to inject consideration of mechanobiological principles of bone formation into paleontological inferences. Finite element analysis must employ such principles to become an effective research tool in this context. Am J Phys Anthropol 151:356–371, 2013.© 2013 Wiley Periodicals, Inc.
Patterns of astragalar fibular facet orientation in extant and fossil primates and their evolutionary implications
Authors: Boyer Doug M. , Seiffert Erik R.
Published: June 2013

A laterally sloping fibular facet of the astragalus (=talus) has been proposed as one of few osteological synapomorphies of strepsirrhine primates, but the feature has never been comprehensively quantified. We describe a method for calculating fibular facet orientation on digital models of astragali as the angle between the planes of the fibular facet and the lateral tibial facet. We calculated this value in a sample that includes all major extant primate clades, a diversity of Paleogene primates, and nonprimate euarchontans (n = 304). Results show that previous characterization of a divide between extant haplorhines and strepsirrhines is accurate, with little overlap even when individual data points are considered. Fibular facet orientation is conserved in extant strepsirrhines despite major differences in locomotion and body size, while extant anthropoids are more variable (e.g., low values for catarrhines relative to non‐callitrichine platyrrhines). Euprimate outgroups exhibit a mosaic of character states with Cynocephalus having a more obtuse strepsirrhine‐like facet and sampled treeshrews and plesiadapiforms having more acute haplorhine‐like facets. Surprisingly, the earliest species of the adapiform Cantius have steep haplorhine‐like facets as well. We used a Bayesian approach to reconstruct the evolution of fibular facet orientation as a continuous character across a supertree of living and extinct primates. Mean estimates for crown Primatomorpha (97.9°), Primates (99.5°), Haplorhini (98.7°), and Strepsirrhini (108.2°) support the hypothesis that the strepsirrhine condition is derived, while lower values for crown Anthropoidea (92.8°) and Catarrhini (88.9°) are derived in the opposite direction. Am J Phys Anthropol 151:420–447, 2013.© 2013 Wiley Periodicals, Inc.
Viewpoints: Diet and dietary adaptations in early hominins: The hard food perspective
Authors: Strait David S. , Constantino Paul , Lucas Peter W. , Richmond Brian G. , Spencer Mark A. , Dechow Paul C. , Ross Callum F. , Grosse Ian R. , Wright Barth W. , Wood Bernard A. , Weber Gerhard W. , Wang Qian , Byron Craig , Slice Dennis E. , Chalk Janine , Smith Amanda L. , Smith Leslie C. , Wood Sarah , Berthaume Michael , Benazzi Stefano , Dzialo Christine , Tamvada Kelli , Ledogar Justin A.
Published: June 2013

Recent biomechanical analyses examining the feeding adaptations of early hominins have yielded results consistent with the hypothesis that hard foods exerted a selection pressure that influenced the evolution of australopith morphology. However, this hypothesis appears inconsistent with recent reconstructions of early hominin diet based on dental microwear and stable isotopes. Thus, it is likely that either the diets of some australopiths included a high proportion of foods these taxa were poorly adapted to consume (i.e., foods that they would not have processed efficiently), or that aspects of what we thought we knew about the functional morphology of teeth must be wrong. Evaluation of these possibilities requires a recognition that analyses based on microwear, isotopes, finite element modeling, and enamel chips and cracks each test different types of hypotheses and allow different types of inferences. Microwear and isotopic analyses are best suited to reconstructing broad dietary patterns, but are limited in their ability to falsify specific hypotheses about morphological adaptation. Conversely, finite element analysis is a tool for evaluating the mechanical basis of form‐function relationships, but says little about the frequency with which specific behaviors were performed or the particular types of food that were consumed. Enamel chip and crack analyses are means of both reconstructing diet and examining biomechanics. We suggest that current evidence is consistent with the hypothesis that certain derived australopith traits are adaptations for consuming hard foods, but that australopiths had generalized diets that could include high proportions of foods that were both compliant and tough. Am J Phys Anthropol 151:339–355, 2013.© 2013 Wiley Periodicals, Inc.
Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease
Authors: Podlesniy Petar , Figueiro‐Silva Joana , Llado Albert , Antonell Anna , Sanchez‐Valle Raquel , Alcolea Daniel , Lleo Alberto , Molinuevo Jose Luis , Serra Nuria , Trullas Ramon
Published: June 2013

Objective

To identify a novel biochemical marker that precedes clinical symptoms in Alzheimer disease (AD).

Methods

Using quantitative polymerase chain reaction techniques, we measured circulating cell‐free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF) from study participants, selected from a cohort of 282 subjects, who were classified according to their concentrations of amyloid β1–42, total tau, and phosphorylated tau and by the presence or absence of dementia, into asymptomatic subjects at risk of AD, symptomatic patients diagnosed with sporadic AD, presymptomatic subjects carrying pathogenic PSEN1 mutations, and patients diagnosed with frontotemporal lobar degeneration (FTLD). We performed equivalent studies in a separate validation cohort of sporadic AD and FTLD patients. In addition, we measured mtDNA copy number in cultured cortical neurons from mutant amyloid precursor protein/presenilin1 (APP/PS1) transgenic mice.

Results

Asymptomatic patients at risk of AD and symptomatic AD patients, but not FTLD patients, exhibit a significant decrease in circulating cell‐free mtDNA in the CSF. These observations were confirmed in the validation cohort. In addition, presymptomatic subjects carrying pathogenic PSEN1 gene mutations show low mtDNA content in CSF before the appearance of AD‐related biomarkers in CSF. Moreover, mtDNA content in CSF discriminates with high sensitivity and specificity AD patients from either controls or patients with FTLD. Furthermore, cultured cortical neurons from APP/PS1 transgenic mice have fewer mtDNA copies before the appearance of altered synaptic markers.

Interpretation

Low content of mtDNA in CSF may be a novel biomarker for the early detection of preclinical AD. These findings support the hypothesis that mtDNA depletion is a characteristic pathophysiological factor of neurodegeneration in AD. Ann Neurol 2013;74:655–668