bluuebunny/crossref_metadata_2025 huggingface dataset:
Beitrag zum eingeschleppten Schwarzen Nutzholzborkenkäfer Xylosandrus germanus. Biologie und Schadenpotential an im Wald gelagertem Rundholz im Vergleich zu Xyloterus lineatus und Hylecoetus dermestoides | The Imported Japanese Scolytid beetle Xylosandrus germanus: Biology and Damage Potential for Stored Round Timber Compared to Xyloterus lineatus and Hylecoetus dermestoides
Authors: Graf Erwin , Manser Pius
Published: June 2007

In 1995, significant damage caused by Xylosandrus germanus (Blandford) was reported on round timber, both with bark and decorticated, of Norway spruce and fir. The insecticides used against Xyloterus lineatus and Hylecoetus dermestoides (L.), showed an insufficient to no effect againstX. germanus. Between 1996 and 1998, the development of the populations were investigated, the effectiveness of insecticides tested and the influence of felling date, decortication and storage site investigated in correlation with the intensity of damage. The decreasing population density, the activity of the insects as well as recommendations for felling and removal of round timber are illustrated and discussed.
Grünbrücke Loterbuck A 4.2.9: Eine Erfolgskontrolle nach drei Jahren | Fauna Overbridge Loterbuck A 4.2.9: Success Control after a Period of Three Years
Authors: Hatt Stephan
Published: June 2007

The expansion of the traffic network, in particular the construction of highways, has continuously diminished and divided into small sections the habitat of wild-living animals during the last decades. However, these negative effects can be minimised if suitable measures with regard to line-conduction and construction are taken against. One of these possibilities are the sown-down overbridges. It is essential that these constructions are planned and built in order to meet the requirements of their future users – the various wild-living animals. This study investigates the success of one of these sown-down overbridges. It is this the Loterbuck-overbridge on the A 4.2.9 near Henggart in the canton of Zurich, Switzerland. The focus of this investigation was to find out which species of wild-living animals use the bridge and how much it is frequented. Local people and specialists of the region were interviewed and tracks were picked up on site. Taking into consideration five criteria (species of wild-living animals, positioning and number of overbridges nearby, dimensioning and design of the individual overbridges), the interviews and tracks were assessed. The Loterbuck-overbridge is used by all larger wild-living animals of the region. Especially the browsing and rubbing tracks of deer show that the overbridge has been accepted not only as sown-down overbridge but also as habitat.
La protezione dagli incendi boschivi nelle Alpi centro-occidentali | Forest Fire-Prevention in the Central Eastern Alps
Authors: Bovio Giovanni
Published: June 2007

Important forest fire prevention developments of the Lombardy, Piedmont and Aosta Valley regions are highlighted in this study and a certain number of activities considered able to improve the situation are proposed.
The Correlation Between Lithology, Physiography and the Vegetation Cover in Iran
Authors: Feiznia Sadat , Pejam Mahmoud Reza
Published: June 2007

The correlation between the vegetation cover,lithology and some physiographic factors in Iran was investigated. A region of 132 500 hectares was chosen and maps were prepared. The results obtained show that by interfacing the lithologic map with the physiographic maps, a map with a high-level correlation with the vegetation-cover map can be obtained.
Produktorientierte Ökobilanzen und produktionsabhängiger Landverbrauch: Können Zertifizierungskriterien den ‹Missing Link› liefern? | Product-Oriented LCA and Production-Related Land Use in Forestry: Can Certification Criteria and Indicators Provide the Missing Link?
Authors: Hollenstein Kurt
Published: June 2007

Land use is a crucial aspect of forestry operations that is not considered quantitatively in traditional LCAs. Currently ongoing certification work and the related information offer a potential basis for filling this gap. Certification frameworks of interest for Switzerland are evaluated for their suitability in providing input data for integrating land use into LCAs. In addition, approaches based on the effects of forestry on biodiversity and on the land base required for sustainable production are discussed. It is found that certification frameworks are only of limited use for addressing the issue of land use within an LCA, whereas biodiversity focuses on land quality rather than on the amount of land. It is therefore concluded that a dedicated method for integrating land use into LCAs is required and that such an approach must cover both quantitative and qualitative effects of forestry operations to yield meaningful results.
Essai d'application de modèles météorologiques au calcul du moment d'apparition de deux phases phénologiques | Application of Meteorological Models for the Calculation of the Beginning of Two Phenological Phases
Authors: Primault Bernard
Published: June 2007

Many years ago, a model was elaborated to calculate the«beginning of the vegetation's period», based on temperatures only (7 days with +5 °C temperature or more). The results were correlated with phenological data: the beginning of shoots with regard to spruce and larch. The results were not satisfying, therefore, the value of the two parameters of the first model were modified without changing the second one. The result, however, was again not satisfying. Research then focused on the influence of cumulated temperatures over thermal thresholds. Nevertheless, the results were still not satisfying. The blossoming of fruit trees is influenced by the mean temperature of a given period before the winter solstice. Based on this knowledge, the study evaluated whether forest trees could also be influenced by temperature or sunshine duration of a given period in the rear autumn. The investigation was carried through from the first of January on as well as from the date of snow melt of the following year. In agricultural meteorology, the temperature sums are often interrelated with the sunshine duration, precipitation or both. However,the results were disappointing. All these calculations were made for three stations situated between 570 and 1560 m above sea-level. This allowed to draw curves of variation of the two first parameters (number of days and temperature) separately for each species observed. It was finally possible to specify the thus determined curves with data of three other stations situated between the first ones. This allows to calculate the flushing of the two tree species, if direct phenological observation is lacking. This method, however, is only applicable for the northern part of the Swiss Alps.
Kiessande für sekundäre Strassen | Aggregates for Low Volume Roads
Authors: Hirt Richard
Published: June 2007

Gravel is the most important material for road construction. In most countries the quality of gravel for sub-base and base is standardised. The Association of Swiss Road and Traffic Engineers recently revised the Swiss SN standard 670 120d for subbase gravel. Quality requirements concerning the admissible content of fine particles and the limits of particle size distribution were intensified, for no obvious reason. Former studies and experiences proved that these stricter specifications are neither necessary, from a soil-mechanical point of view, nor economical. For low volume roads, such as forest and rural roads, it is therefore suggested to use the limits of particle size distribution for gravel II (except for crushed rock aggregates),but a clearly higher amount of fine particles can be accepted.
Das effor2-Pilotprogramm Wald und Wild der Kantone Appenzell Ausserrhoden, Appenzell Innerrhoden und St. Gallen | The Trial Programme «effor2 Forest and Game» in the Cantons of Appenzell Ausserrhoden, Appenzell Innerrhoden and St. Gall
Authors: Sommerhalder Robert , Ettlinger Peter
Published: June 2007

We discuss the goals and measures of the trial programme«effor2 Forest and Game» (2000–2004) in the cantons of Appenzell Ausserrhoden, Appenzell Innerrhoden and St. Gall. Its aim is to improve the environment and implement a modern management system for game.
26 Jahre Auerhuhnschutz im Forstkreis Toggenburg, Kanton St. Gallen | 26 years of capercaillie protection in the forest district of Toggenburg, Canton St. Gall
Authors: Rudmann Franz
Published: June 2007

In the forest district of Toggenburg preventitive measures for the protection of the small population of capercaillie have been in place since 1974. Apart from the reduction of disturbance to the capercaillie, which is achieved most effectively by the abstention from building access roads, silvicultural measures taken in the forest to improve their habitat are considered of great importance.

Selection thinning is the chosen instrument, which leads to good results in all forest communities with wild (naturally occurring) billberry. In beech forest communities, where growth is quick and overall coverage good, thinning should be carried out over a big enough area in order to ensure a provisional habitat. Mapping out the habitat and monitoring the capercaillie enables conclusions to be drawn on the changes and improvement of their environment.
Vogelarten in den Wäldern der Kantone Appenzell Ausserrhoden und Innerrhoden | Species of birds in the forests of the two Appenzell cantons, Ausserrhoden and Innerrhoden
Authors: Knüsel Franziska , Nef Theo , Sommerhalder Robert
Published: June 2007

In the two Appenzell cantons, Ausserrhoden and Innerrhoden,changes that occurred in the populations and species spectrum of 40 species of birds, which are found mainly in the forest or which rely on the forest as a habitat, will be shown. The observations made between 1995 and 2000 show that the populations of three species increased, while the populations of nine species decreased.
The use of fire in the environmental rehabilitation on the sites of a former refugee camp at Benaco, Tanzania
Authors: Bloesch Urs
Published: June 2007

The enormous wood requirements of about 450 000 Rwandan refugees in northwestern Tanzania led to the depletion of the wood resources in the surrounding savannas in an area of about 500 km2. The natural regeneration of the woody plants was endangered by frequent fierce late dry-season fires. Since total fire exclusion of the vast area was not feasible, early-burning was prescribed which is less destructive to woody regeneration than the hotter late burns and which prevents the more destructive late dry-season fires. The techniques of controlled burning are explained.
Investigation on the structure of young stands in the mountainous forest of Arasbaran (Northwest Iran)
Authors: Sagheb-Talebi Khosro , Amirghasemi Farhad , Dargahi Davoud
Published: June 2007

The structure of young stands in different forest associations was studied at 134 sample plots in the protected area in the mountainous forest of Arasbaran (Iran). While the most mixed broad-leaved stands showed coppice with standards character, the juniper high stands showed a peculiar structure with trees arranged in clusters.
Dickenzuwachs und Stammform von jungen Bäumen in Abhängigkeit von Entastungsintensitäten | Diameter growth and stem form development of young trees, depending on pruning activity
Authors: Li Maihe , Uehre Peter , Matschke Jürgen
Published: June 2007

Over a 4-year investigation period we studied the effects of more or less intense pruning on short-term diameter growth and stem form of trees in avenues and parks. While a low degree of pruning hardly has any effect on diameter growth, a high degree of pruning leads to a loss of diameter growth and cylindricality. A high degree of pruning,directly effects assimilation capacity, thereby reducing foliage area and indirectly disturbs internal physiological processes.
Influence des éléments météorologiques sur la production ligneuse – Enquête sur le comportement de deux parcelles de la forêt communale de Couvet | Weather influences on wood production. Investigation on two parcels of land on the community forest of Couvet
Authors: Favre Louis-André
Published: June 2007

From 1953 to 1969 two parcels of land in the community forest of Couvet (Jura neuchâtelois) were subjected to a precise annual inventory and a meteorological station was installed. The goal of this investigation was to study the influences of weather on wood production in the two differently exposed trial areas, one facing north (Envers) and one facing south(Endroit). The trials furnished a satisfactory answer to a recurring question of forestry managers at Couvet: the surprisingly parallel occurrence of periodic growth on both plots can be explained by the long-term balance between good and bad weather periods.
Naturgefahren im Kanton Zug | Natural hazards in Canton Zug
Authors: Wüthrich Roland
Published: June 2007

Numerous natural hazards are known to have occurred in Canton Zug. Under the guidance of the Cantonal Forestry Office,starting in 2002 and taking all relevant natural hazard processes into account, Canton Zug has drawn up a comprehensive natural hazard map, an event register and a register of protective constructions covering a wide area. Various maps have been established, or are in the process of being drawn up, for human settlements that are at risk. Based on the existing data and in collaboration with the communities, Canton Zug aims to establish integrated risk management programmes for the most important enterprises. Once the natural hazard fundaments are more or less complete at the end of 2005, further work remains to be done informing the population of the existing risks and including them in decisions about the necessary level of safety and concomitant security measures, as well as the implementation of risk factors in exploitation planning.
Wald wird Park – ein Essay | Forests become recreation parks: an essay
Authors: Büttner Michèle
Published: June 2007

Urban forest areas with a high density of users and visitors is increasingly cared for and take on the character of parks:view axes are set out, individual trees that are remarkable are tended and undergrowth cleared so that visitors can feel safe and comfortable. Functions and features, formerly associated with gardens and parks, are thus finding egress in the forest. Are urban forests being transformed from wood providers to parks? The present essay compares features and functions of recreation forests around Berne and Zurich with those of formal gardens and parks.
Der Wald als Oberfläche der Verwandlung | The forest as the interface of change
Authors: Mayer-Gampe Pia
Published: June 2007

In forest educational theory the deep psychological relationship between the forest and human beings is reflected in the narratives of legends and fairy tales. Nonetheless, up until now the structure and dynamics of this relationship has not really been grasped and only inadequately described with catchy metaphors,such as «the forest as the subconscious». By a process of mapping Grimm's fairy tales and other tales and fables it becomes possible to develop a new perspective on the relationship between the forest and the human psyche, so that the biological role of the forest with its mythical component comes together to a significant whole. Important impulses can be drawn from this amalgamation for forest education and public relations endeavours.
Exotic Species, Naturalisation, and Biological Nativism
Authors: Hettinger Ned
Published: June 2007

Contrary to frequent characterisations, exotic species should not be identified as damaging species, species introduced by humans, or species originating from some other geographical location. Exotics are best characterised ecologically as species that are foreign to an ecological assemblage in the sense that they have not significantly adapted with the biota constituting that assemblage or to the local abiotic conditions. Exotic species become natives when they have ecologically naturalised and when human influence over their presence in an assemblage (if any) has washed away. Although the damaging nature and anthropogenic origin of many exotic species provide good reasons for a negative evaluation of such exotics, even naturally-dispersing, nondamaging exotics warrant opposition. Biological nativists’ antagonism toward exotics need not be xenophobic and can be justified as a way of preserving the diversity of ecological assemblages from the homogenising forces of globalisation. Implications for Yellowstone National Park policy are explored.
Value, Metaphysics, and Anthropocentrism
Authors: Morito Bruce
Published: June 2007

The lack of metaphysical grounding of environmental values, and impatience towards the enterprise of seeking such grounding, result in a superficial and wrongheaded view of anthropocentrism. Anthropocentrism is best understood as a limiting condition, a point from which we can begin to reformulate an understanding of ourselves, our values, and our relation to the environment. It is not principally a starting point for the existence of values, as is assumed under traditional theories of anthropocentrism.

To demonstrate and elaborate on this position, the paper focuses on environmental values and how we traditionally assume them to be formed and legitimated. A critique of the analyses of two prominent figures in the field of environmental ethics, Bryan Norton and Eugene Hargrove, serves as the backdrop against which an alternative view is formed. This alternative is metaphysically grounded in an ecologically informed analysis of valuational activity. Against the tradition, the argument establishes two main points: 1) that attempts to ground environmental values on human preferences, agreements, traditions, or culturally driven commitments are liable to legitimate contrary values; and 2) that an ecologically driven analysis of values shows that valuations of the environment are not fundamentally conferred onto it by human beings.

Positively, the paper attempts to show that our inclusion as members of the ecological community makes our valuational activity an integral and transformational element within more comprehensive ecological processes. As such, our moral commitment to the environment must be radically reshaped in order adequately to incorporate this renewed understanding.
The Innovation Potential of Bulk Nanostructured Materials
Authors: Valiev R. Z. , Zehetbauer M. J. , Estrin Y. , Höppel H. W. , Ivanisenko Y. , Hahn H. , Wilde G. , Roven H. J. , Sauvage X. , Langdon T. G.
Published: June 2007

The innovation potential is high for bulk nanostructured materials (BNM) produced by methods of severe plastic deformation and accordingly this report focuses on very recent developments demonstrating the potential of using BNM for advanced and functional applications in engineering and medicine.
Modeling nanofiltration with Nernst‐Planck approach and polarization layer
Authors: Déon S. , Dutournié P. , Bourseau P.
Published: June 2007

Selectivity prediction of charged solutions separation by nanofiltration membranes with a two‐dimensional (2‐D) model, combining transport through the membrane and polarization layer (PPTM) is presented. Pore transport is based on the Donnan Steric Pore Model (DSPM) with dielectric reassessment, and transport within the polarization layer is modeled from a steady‐state mass balance, including turbulence influence on diffusion and velocity profiles, as well as wall influence on species diffusion very close to the wall. Specific experiments with glucose and concentrated NaCl solutions were carried out to determine membrane characteristics (average pore radius, charge density, dielectric constant of solution in the pore), and to adjust other model parameters. The model is then validated by comparing simulated rejections and experimental ones for other NaCl concentrations. With adjusted parameters, the model is able to predict local variations of rejection and permeation flux along the tubular membrane, as well as global observed rejections. © 2007 American Institute of Chemical Engineers AIChE J, 2007
Chlamydia psittaci infection and clinicopathologic analysis of ocular adnexal lymphomas in Korea
Authors: Yoo Changhoon , Ryu Min‐Hee , Huh Jooryung , Park Ji Hyun , Kang Hye Jin , Ahn Hyo Sook , Lee Yongjae , Kim Myoung Joon , Lee Hyoungnam , Kim Tae Won , Chang Heung Moon , Lee Jae‐Lyun , Kang Yoon‐Koo
Published: June 2007

Ocular adnexal lymphoma (OAL) is a mostly extranodal marginal zone lymphoma (EMZL). Recent findings have suggested an association between Chlamydia psittaci (Cp) infection and OAL. We sought to confirm this issue and to analyze the clinicopathologic characteristics of OAL in Korea. Between 1993 and 2004, 33 OAL cases were identified at the Asan Medical Center, Seoul, Korea. DNA was extracted from paraffin‐embedded tissues, and touchdown enzyme time release polymerase chain reaction was performed to identify three Chlamydia species (Cp, C. tracomatis, and C. pneumoniae). The same procedures were also performed in 21 samples from patients with non‐neoplastic ocular adnexal disease (NNOAD). All OAL cases were EMZL. Cp DNA was detected in 26/33 (79%) OAL samples compared with 5/21 (23%) NNOAD samples (P < 0.001). With a median follow‐up of 38.5 months (range: 1–105 months), the 5‐year progression‐free survival (PFS) and overall survival (OS) rates of OAL patients were 72% and 93%, respectively. Clinicopathologic characteristics, recurrence rate, PFS, and OS were not associated with Cp infection. Our study demonstrates an association between OAL and Cp infection in Korea, suggesting that Cp plays a role as a causative antigen in Korean OAL patients. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.
The impact of major surgery on blood coagulation factors and thrombin generation
Authors: Horne McDonald K. , Merryman Paula K. , Cullinane Ann M. , Nghiem Khanh , Alexander H. Richard
Published: June 2007

We studied the blood coagulation system of 14 patients with metastatic malignancies before and after they had undergone major surgery. In addition to measuring a battery of coagulation factors, we assessed the function of the system with assays of whole blood thrombin generation. With the exceptions of factor VIII (fVIII), which increased, and fibrinogen and fIX, which did not change, the activities of all the pro‐ and anticoagulant proteins were significantly lower postoperatively. However, the thrombin generating capacity of the system was relatively preserved. Although the integral of thrombin activity over time was lower after surgery, the mean peak thrombin concentration was unchanged and the time to clot formation was shortened. Similar changes could be reproduced by lowering the concentrations of pro‐ and anticoagulant factors together in control blood samples. Therefore, simultaneous reductions in pro‐ and anticoagulant proteins postoperatively worked to maintain the functional integrity of the blood coagulation system. Am. J. Hematol., 2007. Published 2007 Wiley‐Liss, Inc.
Crypt loss is a marker of clinical severity of acute gastrointestinal graft‐versus‐host disease
Authors: Melson Joshua , Jakate Shriram , Fung Henry , Arai Sally , Keshavarzian Ali
Published: June 2007

Background: Crypt loss is a histological finding in acute gastrointestinal Graft‐Versus‐Host Disease (GI‐GvHD) of undefined clinical significance. Methods: Colonic crypt loss was graded in twenty‐three patients treated for GI‐GvHD following stem cell transplantation and then correlated with clinical parameters of disease severity and mortality. Results: Crypt loss was present in 17/23 cases, and in 11/23 cases crypt loss was deemed severe by the presence of contiguous areas of crypt loss. Nine of 11 patients with severe crypt loss had daily stool volumes in excess of 1000 ml/day, while only 3/12 of those with minimal or no crypt loss had this level of severe diarrhea. All 11 patients with severe crypt loss had a pathologic appearance at endoscopy and 10/11 had steroid refractory disease. Diarrhea resolved in only 3/9 patients with severe crypt loss. Five out of 10 patients (50%) with severe crypt loss expired within 15 months of diagnosis. All five deaths were attributable to the progression of GvHD itself or infection in the presence of continued GI‐GvHD. Conversely, only 1 of 12 patients (8%) with mild or no crypt loss had a death attributable to GvHD or infection. Conclusions: This study shows that severe colonic crypt loss predicts severe clinical GI‐GvHD that is more likely to be refractory to steroid treatment. In addition, crypt loss severity appears associated with higher mortality related to GvHD. Crypt loss can serve as a tool to predict clinically severe GI‐GvHD. Am. J. Hematol. 82:881–886, 2007. © 2007 Wiley‐Liss, Inc.
Molecular study in Brazilian cochlear implant recipients
Authors: Christiani Thalita Vitachi , Alexandrino Fabiana , de Oliveira Camila Andréa , Amantini Regina Célia Bortoleto , Bevilacqua Maria Cecília , Filho Orozimbo Alves Costa , Porto Paulo , Sartorato a. Edi Lúcia
Published: June 2007

The most common form of non‐syndromic autosomal recessive deafness (NSRD) is caused by mutations in the GJB2 gene. Recently, a deletion truncating the GJB6 gene, called del(GJB6‐D13S1830) has also been described normally accompanying mutations in another allele of the GJB2 gene. Among all the mutations described to date, 35delG in the GJB2 gene is the most common. Preliminary data suggest that pathologic changes due to GJB2 mutations do not affect the spiral ganglion cells, which are the site of stimulation of the cochlear implant. Besides, the survival of the spiral ganglion cells is believed to be an important determinant of the outcome after surgery. Therefore, we have studied 49 non‐syndromic deaf patients with unknown etiologies in order to determine the prevalence of GJB2 and GJB6 gene mutations in patients undergoing cochlear implantation surgery. Also, the molecular studies were performed using polymerase chain reaction amplification and direct sequencing. As a result, we found 19 individuals with GJB2 mutation including one new mutation (K168R), one patient homozygous for the del(GJB6‐D13S1830). These results establish that genetic screening can provide an etiologic diagnosis, and may help with prognosis after cochlear implantation, as has been hypothesized in previous studies. © 2007 Wiley‐Liss, Inc.
Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22
Authors: Park Ji Kwon , Lee Jae Ik , Jo Hyun Cheol , Shin Jeong Kyu , Choi Won Jun , Lee Soon Ae , Lee Jong Hak , Paik Won Young
Published: June 2007

Complex chromosomal rearrangement (CCR) is a structural abnormality of chromosomes that rarely appears in individuals with normal phenotypes. A CCR involving chromosomes 9, 13, and 22 was ascertained in a phenotypically normal woman through a neonate with multiple congenital malformations and partial trisomies of 13 and 22. We diagnosed the CCR using high‐resolution chromosome analysis and three‐color fluorescence in situ hybridization (three‐color FISH) analysis, and ascertained a balanced CCR without cryptic imbalances using array comparative genomic hybridization (array CGH) and FISH. In the present work, we report on the case together with a literature review. © 2007 Wiley‐Liss, Inc.
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: Evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain
Authors: Makishima Tomoko , Madeo Anne C. , Brewer Carmen C. , Zalewski Christopher K. , Butman John A. , Sachdev Vandana , Arai Andrew E. , Holbrook Brenda M. , Rosing Douglas R. , Griffith Andrew J.
Published: June 2007

Dominant, truncating mutations of eyes absent 4 (EYA4) on chromosome 6q23 can cause either nonsyndromic hearing loss DFNA10 or hearing loss with dilated cardiomyopathy (DCM). It has been proposed that truncations of the C‐terminal Eya domain cause DFNA10 whereas upstream truncations of the N‐terminal variable region cause hearing loss with DCM. Here we report an extended family co‐segregating autosomal dominant, postlingual‐onset, progressive, sensorineural hearing loss (SNHL) with a novel frameshift mutation, 1490insAA, of EYA4. The 1490insAA allele is predicted to encode a truncated protein with an intact N‐terminal variable region, but lacking the entire C‐terminal Eya domain. Clinical studies including electrocardiography, echocardiography, and magnetic resonance imaging (MRI) of the heart in nine affected family members revealed no DCM or associated abnormalities and confirmed their nonsyndromic phenotype. These are the first definitive cardiac evaluations of DFNA10 hearing loss to support a correlation of EYA4 mutation position with the presence or absence of DCM. These results will facilitate the counseling of patients with these phenotypes and EYA4 mutations. Published 2007 Wiley‐Liss, Inc.
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Authors: Ørstavik Karen Helene , Knudsen Gun Peggy S. , Nordgarden Hilde , Ormerod Eli , Strømme Petter , Lazarou Lazarous P. , Rosser Lyndon G. , Prescott Trine , Houge Gunnar
Published: June 2007

X‐linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X active in peripheral blood cells. Routine chromosome analysis and sequencing of the EDA gene were normal. However, whole chromosome painting revealed a 9;X insertion. FISH analyses with BAC probes towards the EDA gene and the more distal region containing the XIST locus showed that an X chromosome fragment of at least 4 Mb containing XIST was inserted into 9p13 in conjunction with a de novo pericentric inversion of chromosome 9. The proximal breakpoint was within the EDA gene and the distal breakpoint was distal to the XIST locus. Both parents had normal chromosomes, and the mother had random X inactivation in peripheral blood cells. Because XIST was lacking on the X chromosome with the disrupted EDA gene, the normal X chromosome was inactivated resulting in severe XLHED. © 2007 Wiley‐Liss, Inc.
Pelizaeus‐Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations
Authors: Marble Michael , Voeller Kytja S. , May Melanie M. , Stevenson Roger E. , Schwartz Charles E. , Simensen Richard J.
Published: June 2007

A Cajun Kindred with Pelizaeus‐Merzbacher disease was found to have a p.Q128X mutation in exon 3B of proteolipid protein 1 (PLP1). The affected males were globally delayed in development, nonambulatory, and severely dysarthric. The heterozygous females developed progressive gait disturbances and cognitive deterioration starting in the fourth decade of life. The average IQ (Stanford‐Binet Intelligence Scale: 4th Edition (SBFE)) of the carrier females was 54.2, compared to the average IQ of 97.5 in nonaffected relatives. The X‐inactivation ratios in the three carrier females were not markedly skewed (55:45, 70:30, and 85:15). The presence of neurological and cognitive deterioration in the three carriers deviates from the usual expectation that carrier expression only occurs in families when males are mildly affected. © 2007 Wiley‐Liss, Inc.
Clinical and genetic analysis of two Tunisian otosclerosis families
Authors: Ali Insaf Bel Hadj , Thys Melissa , Beltaief Najeh , Schrauwen Isabelle , Dieltjens Nele , Vanderstraeten Kathleen , Besbes Ghazi , Mnif Emna , Hachicha Slah , Arab Saïda Ben , Camp Guy Van
Published: June 2007

Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to otosclerotic foci that invade the cochlear endosteum. Otosclerosis is a very common hearing impairment among Caucasians with a prevalence of about 0.3–0.4% among white adults. In the majority of cases, otosclerosis can be considered as a complex disease, caused by both genetic as environmental factors, but autosomal dominant forms of otosclerosis exist. However, families large enough for genetic analysis are very rare and often show reduced penetrance. To date five loci have been reported, but none of the genes have been cloned yet. In this study, we analyzed two new autosomal dominant otosclerosis families from Tunisia, and genotyped them with microsatellite markers for the known loci, the collagen genes COL1A1 and COL1A2, and NOG gene. In the family LK, linkage to all known loci was excluded. However, the family LS shows suggestive linkage to the OTSC3 region on chromosome 6p21.3–p22.3. This result points out that, besides the five reported loci, there must be at least one additional locus for autosomal dominant otosclerosis. © 2007 Wiley‐Liss, Inc.
Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome
Authors: Al‐Rahawan Mohamad M. , Chute Deborah J. , Sol‐Church Katia , Gripp Karen W. , Stabley Deborah L. , McDaniel Nancy L. , Wilson William G. , Waldron Peter E.
Published: June 2007

Cardio‐facio‐cutaneous syndrome (CFC) and Costello syndrome (CS) are disorders with an overlapping spectrum of congenital anomalies. Mutations in the RAS‐MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC. We report on a 3‐year‐old boy who underwent a cardiac transplant at age 8 months for hypertrophic cardiomyopathy; he was subsequently suspected to have CS. At age 35 months he presented with an intra‐cardiac mass that was diagnosed as metastatic hepatoblastoma. Although hepatoblastoma is not known to have an increased frequency in immunocompromised patients, questions were raised as whether the post‐transplant immuno‐suppressive therapy played a role in tumor development. The patient died shortly thereafter and his post‐mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid tumor reported in a patient with CFC. © 2007 Wiley‐Liss, Inc.
Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment
Authors: Angulo Moris A. , Castro‐Magana Mariano , Lamerson Michele , Arguello Raul , Accacha Siham , Khan Asjad
Published: June 2007

Short stature is characteristic of children with Prader–Willi syndrome (PWS). While previous studies have demonstrated acceleration of linear height velocity with growth hormone (GH) treatment, the long‐term benefit on final adult height (AH) has not been reported. The objective of this study was to compare AH attained in PWS subjects with and without GH treatment. We reviewed the records of 21 children (aged 8.3 ± 2.7 years) with PWS and confirmed GH deficiency that attained AH after receiving human GH treatment (0.25 ± 0.06 mg/kg/week) for a period of 7.9 ± 1.7 years. A group of 39 non‐GH‐treated adults with matched initial height standard deviation score (SDS) at age 6.8 ± 1.3 years was used as control. In the GH‐treated group the mean initial height and AH‐SDS was −1.9 ± 1.7 and −0.3 ± 1.2 respectively (P < 0.0001), whereas the mean initial and AH‐SDS in the control group was −1.9 ± 1.3 and −3.1 ± 1 respectively (P < 0.0001). Scoliosis was seen in 43% and 39% in the GH‐treated and control group respectively. Premature adrenarche (PA) was noticed in 57% of GH‐treated group. Six subjects in the control group but none of the GH‐treated subjects developed type 2 diabetes mellitus. Our data show that administration of GH to children with PWS restores linear growth and final AH without significant adverse effects other than PA. Further studies will be necessary to determine related morbidity and mortality in individuals with PWS that reached final AH with or without GH treatment. © 2007 Wiley‐Liss, Inc.
A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation
Authors: Ghebranious Nader , Giampietro Philip F. , Wesbrook Frederic P. , Rezkalla Shereif H.
Published: June 2007

Many multiple congenital anomalies (MCA) are caused by recombination between homologous segmental duplications. In this report, we describe a novel “de novo” microdeletion in male monozygotic twins presenting with aortic valve abnormality, seizure disorder, and mild mental retardation. Using array based comparative genomic hybridization, we mapped the microdeletion to the short arm of chromosome 16 at 16p11.2 and refined it using hemizygosity mapping to about 593 kb, a region that overlaps with 24 genes. The most probable mechanism for this microdeletion is through a specific intrachromosomal recombination between two, nearly identical, segmental duplications each spanning 147 kb that are flanking the microdeletion. Based on the phenotypes presented in the twins and what is known about the genes within the 16p11.2 microdeletion, we identified several genes that are strong candidates for the normal development of the aortic valve, as well as the development of seizure disorder and mental retardation. © 2007 Wiley‐Liss, Inc.
Reconstructing infant weaning histories at Roman period Kellis, Egypt using stable isotope analysis of dentition
Authors: Dupras Tosha L. , Tocheri Matthew W.
Published: June 2007

Studies of infant feeding and weaning patterns in past populations that rely on a cross‐sectional approach must make the assumption that no infant mortality bias exists. Previous investigations of infant weaning patterns at the Dakhleh Oasis, Egypt, relied on cross‐sectional isotope data. In this study, we re‐examine this weaning pattern, using a simulated longitudinal approach, which does not require any assumptions regarding potential infant mortality biases. This involves examining the dental isotopic signatures of individuals who survived the weaning process. Stable isotope signatures from juveniles and adults (102 individuals, 297 teeth) were examined to reconstruct the weaning history of those that survived the weaning process. Both deciduous and permanent teeth were sampled. Homogenized enamel and dentin samples were isolated from each tooth and analyzed for δ13Cap and δ18Oap from the enamel and δ15Ncoll and δ13Ccoll from dentin collagen. We investigate differences between in utero versus postbirth, preweaning versus postweaning, and juvenile versus adult stable isotope values as reflected in the dentition. A random permutation procedure was used to test for statistically significant differences in stable isotope values between tooth types. Statistically significant differences were observed in all stable isotopes between permanent and deciduous teeth, and between early and later forming permanent teeth in δ13Cap and δ15Ncoll isotopes. These results indicate dietary change between in utero and postbirth, and changes occurring during the weaning period. These results provide a more comprehensive picture of infant weaning practices at Kellis and provide further support that complete weaning occurred by 3 years of age. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Environment and morphology in Australian Aborigines: A re‐analysis of the Birdsell database
Authors: Gilligan Ian , Bulbeck David
Published: June 2007

Pursuant to his major research interest in the cultural ecology of hunter‐gatherers, Birdsell collected an unparalleled body of phenotypic data on Aboriginal Australians during the mid twentieth century. Birdsell did not explicitly relate the geographic patterning in his data to Australia's climatic variation, instead arguing that the observable differences between groups reflect multiple origins of Australian Aborigines. In this article, bivariate correlation and multivariate analyses demonstrate statistically significant associations between climatic variables and the body build of Australians that are consistent with the theoretical expectations of Bergmann's and Allen's rules. While Australian Aborigines in comparison to Eurasian and New World populations can be generally described as long‐headed, linear in build, and characterized by elongated distal limbs, the variation in this morphological pattern across the continent evidently reflects biological adaptation to local Holocene climates. These results add to a growing body of evidence for the role of environmental selection in the development of modern human variation. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
The use of cranial variables for the estimation of body mass in fossil hominins
Authors: Spocter Muhammad A. , Manger Paul R.
Published: June 2007

Estimating body mass/size/weight remains a crucial precursor to the evaluation of relative brain size and to achieving an understanding of brain evolution in fossil species. Despite the obvious close association between the metrics of postcranial elements and body mass a number of factors combine to reduce their utility. This study examines the feasibility of cranial variables for predicting body mass. The use of traditional regression procedures, independent contrasts analysis, and variance partitioning all support the hypothesis that cranial variables are correlated with body mass even when taking phylogeny into account, withrvalues typically ranging between 0.52 and 0.98. Body mass estimates derived for fossil hominins using cranial variables are similar to those obtained from previous studies using either cranial or postcranial elements. In particular, upper facial breadth and orbital height display strong predictive capability. Average body masses derived from Least Squares Regression (LSR) equations were used to calculate estimates of body mass for three hominin species. This resulted in estimates of between 30 kg and 47 kg forAustralopithecus africanus, 48 kg and 52 kg forParanthropus robustus, and 75 kg forHomo neanderthalensis. It is proposed that regression equations derived for the order primates are used to estimate body mass for archaic hominins, while hominoid based equations are most suited forHomo. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Brief and precarious lives: Infant mortality in contrasting sites from medieval and post‐medieval England (AD 850–1859)
Authors: Lewis Mary E. , Gowland Rebecca
Published: June 2007

This study compares the infant mortality profiles of 128 infants from two urban and two rural cemetery sites in medieval England. The aim of this paper is to assess the impact of urbanization and industrialization in terms of endogenous or exogenous causes of death. In order to undertake this analysis, two different methods of estimating gestational age from long bone lengths were used: a traditional regression method and a Bayesian method. The regression method tended to produce more marked peaks at 38 weeks, while the Bayesian method produced a broader range of ages and were more comparable with the expected “natural” mortality profiles.

At all the sites, neonatal mortality (28–40 weeks) outweighed post‐neonatal mortality (41–48 weeks) with rural Raunds Furnells in Northamptonshire, showing the highest number of neonatal deaths and post‐medieval Spitalfields, London, showing a greater proportion of deaths due to exogenous or environmental factors. Of the four sites under study, Wharram Percy in Yorkshire showed the most convincing “natural” infant mortality profile, suggesting the inclusion of all births at the site (i.e., stillbirths and unbaptised infants). Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Middle phalanx skeletal morphology in the hand: Can it predict flexor tendon size and attachments?
Authors: Marzke Mary W. , Shrewsbury Marvin M. , Horner Kristin E.
Published: June 2007

Specific sites on the palmar diaphysis of the manual middle phalanges provide attachment for the flexor digitorum superficialis (FDS) tendon. It has been assumed in the literature that lateral palmar fossae on these bones reflect locations for these attachments and offer evidence for relative size of the flexor tendon. This assumption has led to predictions about relative FDS muscle force potential from sizes of fossae on fossil hominin middle phalanges. Inferences about locomotor capabilities of fossil hominins in turn have been drawn from the predicted force potential of the flexor muscle. The study reported here provides a critical first step in evaluating hypotheses about behavioral implications of middle phalangeal morphology in fossil hominins, by testing the hypothesis that the lateral fossae reflect the size of the FDS tendon and the location of the terminal FDS tendon attachments on the middle phalanx. The middle phalangeal region was dissected in 43 individuals from 16 primate genera, including humans. Qualitative observations were made of tendon attachment locations relative to the lateral fossae. Length measurements of the fossae were tested as predictors of FDS tendon cross‐sectional area and of FDS attachment tendon lengths. Our results lead to the conclusion that the hypothesis must be rejected, and that future attention should focus on functional implications of the palmar median bar associated with the lateral fossae. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Diet and diversity at later medieval fishergate: The isotopic evidence
Authors: Müldner Gundula , Richards Michael P.
Published: June 2007

We present the results of stable carbon and nitrogen isotope analysis of bone collagen for 155 individuals buried at the Later Medieval (13th to early 16th century AD) Gilbertine priory of St. Andrew, Fishergate in the city of York (UK). The data show significant variation in the consumption of marine foods between males and females as well as between individuals buried in different areas of the priory. Specifically, individuals from the crossing of the church and the cloister garth had consumed significantly less marine protein than those from other locations. Isotope data for four individuals diagnosed with diffuse idiopathic skeletal hyperostosis (DISH) are consistent with a diet rich in animal protein. We also observe that isotopic signals of individuals with perimortem sharp force trauma are unusual in the context of the Fishergate dataset. We discuss possible explanations for these patterns and suggest that there may have been a specialist hospital or a local tradition of burying victims of violent conflict at the priory. The results demonstrate how the integration of archaeological, osteological, and isotopic data can provide novel information about Medieval burial and society. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Indentured migration and differential gender gene flow: The origin and evolution of the East‐Indian community of Limón, Costa Rica
Authors: Castrì Loredana , Otárola Flory , Blell Mwenza , Ruiz Ernesto , Barrantes Ramiro , Luiselli Donata , Pettener Davide , Madrigal Lorena
Published: June 2007

After the emancipation of African slaves in the Caribbean, the labor void left by out‐migrating former slaves was filled by in‐migrating indentured servants from prepartition India and China. In some areas of the Caribbean such as Trinidad, Suriname, and Guyana, the East‐Indian migrants formed large communities. In this article, we report a study based on mtDNA and Y‐chromosomal markers of a small East‐Indian community from Limón, Costa Rica. The purpose of the project is to determine the place of origin in the Indian subcontinent of the ancestors of our group and the contributions to its gene pool through gene flow by members of other ethnic groups. Both Y‐chromosome and mtDNA suggest that the Indo‐Costa Ricans descend from migrants primarily from Central India. While both paternal and maternal markers indicate that this group is overwhelmingly of Indian origin, they also indicate that males and females of African, European, and Amerindian origin contributed to it differently. We discuss our results in the historical context of the virtual extinction of Amerindian Caribbean groups, the forced migration of African slaves to the Caribbean, and the gene flow between Amerindians, Europeans, East‐Indians, and Africans that eventually produced the Caribbean's currently diverse gene pool. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.