bluuebunny/crossref_metadata_2025 huggingface dataset:
Comparison of published recommendations regarding biosecurity practices for various production animal species and classes
Authors: Moore Dale A. , Merryman Marcia L. , Hartman Marla L. , Klingborg Donald J.
Published: July 2008

Objective—To compare published recommendations regarding biosecurity practices for various production animal species and classes.

Design—Literature review.

Population—Educational materials available on the World Wide Web that provided biosecurity recommendations for dairy cattle, beef cattle, small ruminant, swine, and poultry producers.

Procedures—Web sites for national producer organizations, university cooperative extension services, and state departments of agriculture were searched to identify educational materials with biosecurity recommendations.

Results—A single national organization was selected as representing each animal agriculture commodity group. A total of 53 university Web sites were visited, and 65 publications prepared by university cooperative extension services were identified and evaluated. Web sites for all 50 state departments of agriculture were searched, and 29 were found to have at least 1 publication related to biosecurity practices, for a total of 46 publications. Evaluation of the biosecurity recommendations revealed wide variations by source and within and among commodity groups.

Conclusions and Clinical Relevance—Results suggested that educational materials for producers contained wide variations in recommended biosecurity practices. It is possible that some producers choose not to implement biosecurity recommendations because of confusion as to the specific recommendations they should follow.
Exophthalmus secondary to a sinonasal cyst in a horse
Authors: Annear Matthew J. , Gemensky-Metzler Anne J. , Elce Yvonne A. , Stone Sarah G.
Published: July 2008

Case Description—A 13-year-old female Miniature Horse was evaluated for progressive unilateral exophthalmia of the left globe of 3 weeks' duration.

Clinical Findings—Results of a physical examination were unremarkable. Ophthalmic examination identified exophthalmus of the left globe with complete resistance to retropulsion and mild blepharoconjunctivitis. Computed tomography revealed a large, space-occupying mass within the left caudal maxillary and left conchofrontal sinuses. The mass extended into the left retrobulbar space and contacted the cribriform plate. Trephination yielded copious amounts of turbid yellow fluid. The diagnosis was a sinonasal cyst.

Treatment and Outcome—Subtotal surgical excision of the cyst via a frontonasal osteoplastic flap was curative, with complete resolution of the exophthalmus. Histologic examination confirmed diagnosis of a sinonasal cyst. There was no evidence of cyst recurrence by 4 months after surgery.

Clinical Relevance—Sinonasal cyst should be a differential diagnosis for retrobulbar disease in horses. Exophthalmia may be the only clinical finding in horses with a sinonasal cyst.
Classiﬁcation of Deformation Quantization Algebroids on Complex Symplectic Manifolds
Authors: Polesello Pietro
Published: July 2008

A (holomorphic) deformation quantization algebroid over a complex symplectic manifold

X

is a stack locally equivalent to the ring of WKB operators, that is, microdifferential operators with an extra central parameter

τ

. In this paper, we will show that the (holomorphic) deformation quantization algebroids endowed with an anti-involution are classiﬁed by

H^2(X; k^*_X)

, where

k^∗

is a subgroup of the group of invertible series in

ℂ\llbracket τ^{−1}\rrbracket

. In the formal case, the analogous classiﬁcation is given by

H^2(X; ℂ_X)\llbracket ℏ\rrbracket ^{\mathrm{odd}}

, where one sets

ℏ = τ^{−1}

.
Conformally Invariant Systems of Diﬀerential Equations and Prehomogeneous Vector Spaces of Heisenberg Parabolic Type
Authors: Barchini L. , Kable Anthony C. , Zierau Roger
Published: July 2008

Several systems of partial diﬀerential operators are associated to each complex simple Lie algebra of rank greater than one. Each system is conformally invariant under the given algebra. The systems so constructed yield explicit reducibility results for a family of scalar generalized Verma modules attached to the Heisenberg parabolic subalgebra of the given Lie algebra. Points of reducibility for such families lie in the union of several arithmetic progressions, possibly overlapping. For classical algebras, enough systems are constructed to account for the ﬁrst point of reducibility in each progression. The relationship between these results and a conjecture of Akihiko Gyoja is explored.
On $ℚ$-conic Bundles, II
Authors: Mori Shigefumi , Prokhorov Yuri
Published: July 2008

A

ℚ

-conic bundle germ is a proper morphism from a threefold with only terminal singularities to the germ

(Z\ni o)

of a normal surface such that ﬁbers are connected and the anti-canonical divisor is relatively ample. We obtain the complete classiﬁcation of

ℚ

-conic bundle germs when the base surface germ is singular. This is a generalization of [MP08], which further assumed that the ﬁber over

o

is irreducible.
An Extensive Analysis of Preservice Elementary Teachers’ Knowledge of Fractions
Authors: Newton Kristie Jones
Published: July 2008

The study of preservice elementary teachers’ knowledge of fractions is important because fractions are notoriously difficult to learn and teach. Unfortunately, studies of preservice teachers’ fraction knowledge are limited and have focused primarily on division. The present study included all four operations to provide a more comprehensive understanding of this knowledge. Because knowledge is complex, it was examined in five ways: computational skill, basic concepts, word problems, flexibility, and transfer. To further capture the complexity of knowledge, solution methods were examined for patterns that might reveal understandings and misconceptions. Data were gathered before and after a course designed to deepen preservice teachers’ knowledge. Quantitative and qualitative shifts occurred during the semester, but flexibility and transfer were low. Implications for teacher education are discussed.
When the Son Is Older than the Father: Dominik Graf's 'Denk ich an Deutschland' Television Film
Authors: Sinka Margit
Published: July 2008

Dominik Graf's Wispern im Berg der Dinge (A Whispering in the Mountain of Things) was the second film televised in the twelve-part Denk ich an Deutschland-documentary series launched on the eve of Germany's eighth Day of Unity (October 1998). Though Graf does not refer directly to Heinrich Heine, he clearly takes Heine's mode of thinking about Germany seriously—that is, he resolutely focuses on ruptures, which characterize Heine and his writings, and on the tensions provoked by the interplay of opposites evident in Heine's poem Nachtgedanken (1843), the source of the Denk ich an Deutschland-phrase. In Graf's documentary, Heine's ruptures turn into ruptures between his father's excessively silent war generation and his own unanchored post 1968 generation. The tensions, on the other hand, are evoked by the filmic medium—in particular, between verbal and iconic images. Thinking about film when he thinks about Germany, Graf examines his deceased father's many roles in the West German films of the 1950s and 1960s—roles that had turned him into the representative of the damaged war generation. Faulting the purely verbal in a medium intended to give concrete, visual form to reality, Graf attempts to harness the powers of both verbal and iconic images in the service of identity formation, yet grants the edge to the iconic, as well as to the fictional rather than the factual.
Age differences in learning from text: Evidence for functionally distinct text processing systems
Authors: Shake Matthew C. , Noh Soo Rim , Stine‐Morrow Elizabeth A. L.
Published: July 2008

We investigated the influence of sentence elaboration on self‐regulated learning in order to examine age differences in resource allocation to the construction of textbase‐ and discourse‐level representations. Older and younger adults learned about a topic by reading a series of sentences varying in elaboration (from simple factoids to highly elaborated text) and manner of presentation (progressive change in elaboration vs. random change in elaboration). Younger readers were more likely to recall information from factoids; older adults, from highly elaborated text. Relative to young, older readers showed an advantage in the progressive presentation condition, which minimised frequent changes between textbase‐ and discourse‐level processing. Older adults showed poorer memory monitoring for factoids and less elaborated discourse relative to young, but when passages were highly elaborated or presented progressively, age differences were eliminated. Results support the idea that textbase‐ and discourse‐level encoding arise from functionally distinct systems whose regulation depends on text properties and reader age. Copyright © 2008 John Wiley & Sons, Ltd.
Factors influencing self‐report of mobile phone use: the role of response prompt, time reference and mobile phone use in recall
Authors: Timotijevic Lada , Barnett Julie , Shepherd Richard , Senior Victoria
Published: July 2008

The current study (n = 180) assesses factors affecting the recall of past mobile phone behaviour. It manipulates two factors hypothesised as influencing recall of duration and number of calls made: time reference (24 hours vs. 3 days) and context prompt (temporal, person called, reason for call) and also considers their impact in relation to levels of mobile phone use. A measure of recall error was constructed by matching self‐reported calls to actual calls and weighting for actual usage. The results indicate that most people tend to overestimate duration and underestimate number of phone calls, although these discrepancies are related to actual amount of mobile phone use. The manipulations of time reference and context prompt have some effect on the patterns of recall in relation to number, rather than duration, of calls. The implications of these results for the development of reliable and valid self‐report measures of mobile phone use are discussed. Copyright © 2008 John Wiley & Sons, Ltd.
Fabrication of Low‐Threshold 3D Void Structures inside a Polymer Matrix Doped with Gold Nanorods
Authors: Choi Kyongsik , Zijlstra Peter , Chon James W. M. , Gu Min
Published: July 2008

We report on a low‐threshold three‐dimensional (3D) void generation inside a polyvinyl‐alcohol (PVA) polymer matrix doped with gold nanorods (NRs) by near infra red femtosecond laser pulses. By matching the laser wavelength to the surface plasmon resonance band of the embedded gold NRs, the void generation threshold could be reduced by one order of magnitude lower than undoped matrix. We discuss physical mechanisms involved in the void generation, where distinction between the decomposition of gold NR or PVA is drawn in single pulse and multiple pulse irradiations. We also demonstrate 3D void recording for applications in 3D optical data storage.
Bio‐Inspired, Smart, Multiscale Interfacial Materials
Authors: Xia Fan , Jiang Lei
Published: July 2008

In this review a strategy for the design of bioinspired, smart, multiscale interfacial (BSMI) materials is presented and put into context with recent progress in the field of BSMI materials spanning natural to artificial to reversibly stimuli‐sensitive interfaces. BSMI materials that respond to single/dual/multiple external stimuli, e.g., light, pH, electrical fields, and so on, can switch reversibly between two entirely opposite properties. This article utilizes hydrophobicity and hydrophilicity as an example to demonstrate the feasibility of the design strategy, which may also be extended to other properties, for example, conductor/insulator, p‐type/n‐type semiconductor, or ferromagnetism/anti‐ferromagnetism, for the design of other BSMI materials in the future.
Clinical variability in acro‐cardio‐facial‐syndrome
Authors: Kariminejad Ariana , Bozorgmehr Bita , Sedighi Gilani Mohammad Ali , Almadani Navid , Kariminejad Mohamad Hasan
Published: July 2008

We report on a 25‐year‐old man with ectrodactyly and genital anomalies whose parents are first cousins. Their second child died 4 days after birth with severe limb defects and imperforate anus. Our patient may represent clinical variability of the acro‐cardio‐facial syndrome. © 2008 Wiley‐Liss, Inc.
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
Authors: García‐Nonell Catalina , Ratera Eugenia Rigau , Harris Susan , Hessl David , Ono Michele Y. , Tartaglia Nicole , Marvin Emily , Tassone Flora , Hagerman Randi J.
Published: July 2008

This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. Ninety males (3–25 years) with FXS or FXS + ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS + ASD (38.6%) and FXS alone (18.2%,P < 0.05). Medical problems that affect the CNS are more likely to occur in those with FXS + ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS. © 2008 Wiley‐Liss, Inc.
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p
Authors: Coman David , Bacic Sonya , Boys Amber , Sparrow Duncan B. , Dunwoodie Sally L. , Savarirayan Ravi , Amor David J.
Published: July 2008

The spondylocostal dysostoses (SCD) are a clinically and genetically heterogeneous group of disorders characterized by defects of vertebral segmentation and rib abnormalities. We report on the diagnosis of two siblings with SCD. Diagnosis was first made in a female infant following a pregnancy that was complicated by early fetal hydrops and a nuchal translucency of 8.2 mm in the first trimester. The clinical picture was complicated by the co‐existent diagnosis of confined placental mosaicism (CPM) for tetrasomy 9p. To our knowledge, this is the first report of CPM for tetrasomy 9p. Postnatally the diagnosis of SCD was made on the basis of radiographic findings comprising multiple anomalies of the cervical and thoracic vertebrae and multiple fused and dysplastic ribs. Radiographic investigation of other family members showed that the infant's 4‐year‐old sibling had fusion of four ribs on the right side, indicating a less severe form of SCD. Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD. © 2008 Wiley‐Liss, Inc.
Aging in people with specific genetic syndromes: Rett syndrome
Authors: Halbach Nicky S.J. , Smeets Eric E.J. , Schrander‐Stumpel Connie T.R.M. , van Schrojenstein Lantman de Valk Henny H.J. , Maaskant Marian A. , Curfs Leopold M.G.
Published: July 2008

The aging process of people with intellectual disabilities has been a topic of interest in recent years. Good knowledge of the specific healthcare problems in adults with intellectual disabilities and anticipating on these problems are important issues in providing support and healthcare for these persons. Nevertheless little is known about the aging process of people with specific syndromes, like Rett syndrome. In association with the Dutch Rett syndrome parent association, 70 postal questionnaires were sent to the contact persons of the females aged at least 16 years with a clinical diagnosis of Rett syndrome. The questionnaire consisted of general questions, questions about living conditions, skills, physical and psychiatric morbidity. The response rate was 76% (n = 53). In general adults with Rett syndrome seemed to be reasonably healthy, whereas neurological, respiratory and behavioral morbidity appeared to be of great influence. High care dependency was confirmed. In contrast with underweight, overweight showed to be an under‐ascertained feature. The general disorder profile was confirmed, considering the increase with age regarding kyphosis and the better communication and autonomic dysfunction in the oldest age group compared to the younger age groups. Features of autonomic dysfunction deserve more medical attention, especially the interrelation between quality of sleep, respiration and behavior in Rett syndrome. Longitudinal studies including genotype–phenotype analyses are needed for insight in individual changes in support needs and health. © 2008 Wiley‐Liss, Inc.
Mechanisms of imprinting of the Prader–Willi/Angelman region
Authors: Horsthemke Bernhard , Wagstaff Joseph
Published: July 2008

Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurodevelopmental disorders, each caused by several genetic and epigenetic mechanisms involving the proximal long arm of chromosome 15. Lack of a functional paternal copy of 15q11–q13 causes PWS; lack of a functional maternal copy of UBE3A, a gene within 15q11–q13, causes AS. This region of chromosome 15 contains a number of imprinted genes that are coordinately regulated by an imprinting center (PWS/AS‐IC) that contains two functional elements, the PWS‐SRO and the AS‐SRO. A chromosome lacking the PWS‐SRO has the maternal state of gene activity and epigenetic modification after either maternal or paternal transmission; a chromosome lacking the AS‐SRO but containing the PWS‐SRO has the paternal state of gene activity and epigenetic modification after either maternal or paternal transmission. The maternal state of chromosome 15q11–q13 is associated with methylation of the PWS‐SRO, while the paternal state is associated with lack of methylation of the PWS‐SRO. Although most models of PWS/AS region imprinting assume that the PWS‐SRO is methylated during oogenesis and that this methylation of the maternal PWS‐SRO is maintained after fertilization, several lines of evidence suggest that the maternal PWS‐SRO is in fact not methylated until after fertilization. Imprinting defects affecting the PWS/AS region can arise from failure to demethylate the PWS‐SRO in the male germ line, from failure to methylate the maternal PWS‐SRO, or from failure to maintain PWS‐SRO methylation after fertilization. © 2008 Wiley‐Liss, Inc.
De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23)
Authors: Jiang Yong‐Hui , Martinez Jose E. , Ou Zhishuo , Cooper M. Lance , Kang Sung‐Hae L. , Pursley Amber , Cheung Sau W.
Published: July 2008

Paracentric inversions are one of the common chromosomal rearrangements typically associated with a normal phenotype. However, if dosage‐sensitive genes are disrupted by the breakpoints, an abnormal phenotype could result. Detection of paracentric inversions often relies on careful high resolution banding, which has limited sensitivity. We report here cytogenetic studies performed on a 4‐year‐old female patient with global developmental delay, hypotonia, and dysmorphic features. The initial cytogenetic evaluation by G‐banding revealed a de novo inversion of chromosome 14. Subsequent array CGH analysis using both a targeted BAC array and a high‐resolution oligonucleotide array revealed microdeletions at the breakpoints of 14q21.1 (0.8 Mb) and 14q23.1 (0.9 Mb). Unexpectedly, a microdeletion in the region of 16q23.1 (1.3 Mb) was also identified, which overlaps with the common fragile site FRA16D. Parental chromosome and FISH analyses were normal, supporting the conclusion that these microdeletions were de novo in the patient and likely contributed to her abnormal phenotype. The case report presented illustrates the value of using high‐resolution microarray analysis for phenotypically abnormal individuals with apparently balanced chromosomal rearrangements, including inversions. © 2008 Wiley‐Liss, Inc.
Analytical and clinical validity of whole‐genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
Authors: Xiang Bixia , Li Ao , Valentin Dinu , Nowak Norma J. , Zhao Hongyu , Li Peining
Published: July 2008

We performed a pilot study to establish the analytical and clinical validity of whole genome oligonucleotide array comparative genomic hybridization (oaCGH) using the 44,000 oligonucleotide array from Agilent Technologies. DNA specimens from 10 patients with different chromosomal abnormalities were used as the test group and sex mismatched normal male or female DNA as references. A series of DNA mixtures containing 50%, 33%, and 25% of a known deletion was generated to evaluate the analytical capacity of oaCGH on detecting mosaic pattern. Receiver operating characteristic (ROC) curves were computed to evaluate sensitivity, specificity, and analytical resolution for detecting deletions, duplications, and mosaic patterns. The oaCGH detected the chromosomally recognized deletions, duplications, and additional genomic aberrations. Flurorescent in situ hybridization (FISH) assays using targeted BAC clone probes confirmed oaCGH findings. Failure in detecting marker chromosomes, a polymorphic inversion, and a Robertsonian translocation was also noted. The oaCGH achieved 99% sensitivity and 99% specificity with a resolution of 300–500 Kb. It also demonstrated 85% sensitivity and 95% specificity in detecting 50% mosaicism; however, increased test‐to‐test variations and reduced sensitivity were noted as the mosaic percentage decreased. Chromosome and oaCGH analyses on 50 pediatric patients with mental retardation (MR) and developmental delay (DD) delineated the genomic content of chromosomal abnormalities in nine cases, pathogenic genomic disorders in three cases and benign genomic variants in six cases. These results affirmed the analytical and clinical validity of oaCGH and prompted a cytogenomic algorithm to integrate oaCGH, chromosome and FISH analyses for genetic diagnosis. © 2008 Wiley‐Liss, Inc.
Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients
Authors: Martinet Danielle , Filges Isabel , Besuchet Schmutz Nathalie , Morris Michael A. , Gaide Anne‐Claude , Dahoun Sophie , Bottani Armand , Addor Marie‐Claude , Antonarakis Stylianos E. , Beckmann Jacques S. , Béna Frédérique
Published: July 2008

We report on two patients with de novo subtelomeric terminal deletion of chromosome 6p. Patient 1 is an 8‐month‐old female born with normal growth parameters, typical facial features of 6pter deletion, bilateral corectopia, and protruding tongue. She has severe developmental delay, profound bilateral neurosensory deafness, poor visual contact, and hypsarrhythmia since the age of 6 months. Patient 2 is a 5‐year‐old male born with normal growth parameters and unilateral hip dysplasia; he has a characteristic facial phenotype, bilateral embryotoxon, and moderate mental retardation. Further characterization of the deletion, using high‐resolution array comparative genomic hybridization (array‐CGH; Agilent Human Genome kit 244 K), revealed that Patient 1 has a 8.1 Mb 6pter‐6p24.3 deletion associated with a contiguous 5.8 Mb 6p24.3‐6p24.1 duplication and Patient 2 a 5.7 Mb 6pter‐6p25.1 deletion partially overlapping with that of Patient 1. Complementary FISH and array analysis showed that the inv del dup(6) in Patient 1 originated de novo. Our results demonstrate that simple rearrangements are often more complex than defined by standard techniques. We also discuss genotype–phenotype correlations including previously reported cases of deletion 6p. © 2008 Wiley‐Liss, Inc.
Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q
Authors: Calounova Gabriela , Hedvicakova Petra , Silhanova Eva , Kreckova Gabriela , Sedlacek Zdenek
Published: July 2008

Prader–Willi syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11‐q13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints BP1 or BP2 and BP3. Atypical deletions are very rare. In the present work, we describe the molecular analysis of two patients with atypical deletions using microsatellite analysis, methylation‐specific MLPA, and microarray CGH. A deletion of about 2 Mb in Patient 1 started at BP2 and ended in the middle of the typically deleted region within the UBE3A gene. The deletion in Patient 2 started 1.3 Mb distal from BP2 within the C15ORF2 gene, extended over 9.5 Mb, and ended within the AVEN gene in proximal 15q14. In Patient 1 both deletion breakpoints involved repetitive regions, which precluded cloning of the junction and pointed to non‐allelic homologous recombination as a possible mechanism of this rearrangement. The breakpoints in Patient 2 were sequenced, and their structure suggested non‐homologous end joining as the most likely cause of this deletion. The phenotype of both patients did not depart significantly from the typical clinical picture of PWS, although some symptoms in Patient 2 were also reminiscent of the phenotype of individuals with the recently described 15q13.3 microdeletion syndrome. Our findings support previous observations of relatively mild phenotypic effects resulting from deletions that extend distally from the PWS region and observations of the modest effects of different types of genetic defects on the spectrum and severity of symptoms in PWS. © 2008 Wiley‐Liss, Inc.
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome
Authors: Kalscheuer Vera M. , Feenstra Ilse , Van Ravenswaaij‐Arts Conny M.A. , Smeets Dominique F.C.M. , Menzel Corinna , Ullmann Reinhard , Musante Luciana , Ropers Hans‐Hilger
Published: July 2008

We have characterized a de novo balanced translocation t(18;20)(q21.1;q11.2) in a female patient with mild to moderate mental retardation (MR) and minor facial anomalies. Breakpoint‐mapping by fluorescence in situ hybridization indicated that on chromosome 18, the basic helix‐loop‐helix transcription factor TCF4 gene is disrupted by the breakpoint. TCF4 plays a role in cell fate determination and differentiation. Only recently, mutations in this gene have been shown to result in Pitt–Hopkins syndrome (PHS), defined by severe MR, epilepsy, mild growth retardation, microcephaly, daily bouts of hyperventilation starting in infancy, and distinctive facial features with deep‐set eyes, broad nasal bridge, and wide mouth with widely spaced teeth. Breakpoint mapping on the derivative chromosome 20 indicated that here the rearrangement disrupted the chromodomain helicase DNA binding protein 6 (CHD6) gene. To date, there is no indication that CHD6 is involved in disease. Our study indicates that TCF4 gene mutations are not always associated with classical PHS but can give rise to a much milder clinical phenotype. Thus, the possibility exists that more patients with a less severe encephalopathy carry a mutation in this gene. © 2008 Wiley‐Liss, Inc.
Mental health and quality of life after genetic testing for Huntington disease: A long‐term effect study in Germany
Authors: Licklederer Claudia , Wolff Gerhard , Barth Jürgen
Published: July 2008

Predictive genetic testing for Huntington disease (HD) might cause severe short‐term psychological reactions in patients with poor mental health. Very few studies exist on the long‐term effects of genetic HD testing. The aim of this study was to assess mental health and quality of life in persons who were tested for HD mutation, to compare mental health depending on the result of the genetic test (non‐carriers, gene carriers, and patients with HD) and to identify predictors of mental health and quality of life via linear regression. The data were collected by self‐report questionnaires. In total, 121 individuals participated in this study: 52 were non‐carriers, 54 were gene carriers, and 15 were gene carriers suffering from HD. Non‐carriers and gene carriers showed better mental health and quality of life than HD‐patients but did not differ from each other. In non‐carriers four variables predicted increased depression and low mental quality of life: low perceived social support, no intimate relationship, female sex and younger age. For gene carriers three predictors were found: low perceived social support, the expectation of an unfavorable genetic test result before the testing procedure and being childless. To prevent detrimental effects of HD testing on mental health and mental quality of life, specific attention should be paid to persons with limited social networks during genetic counseling. Assessment of expectations related to the test result and mental health prior to a genetic testing procedure may help to identify gene carriers at risk of poor coping after an unfavorable test result. © 2008 Wiley‐Liss, Inc.
Radiological evolution in IMAGe association: A case report
Authors: Amano Naoko , Naoaki Hori , Ishii Tomohiro , Narumi Satoshi , Hachiya Rumi , Nishimura Gen , Hasegawa Tomonobu
Published: July 2008

IMAGe association is a recently recognized multi‐system disorder of unknown etiology. IMAGe is a mnemonic acronym that stands for Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies (OMIM 300290). Suspicion for the disorder is readily raised by the distinctive clinical and endocrinological constellation, and radiological identification of metaphyseal dysplasia is crucial for the diagnosis. However, knowledge of the onset, evolution, severity, and variation of the metaphyseal dysplasia is currently limited. We illustrate the radiological evolution of an affected girl from her premature birth to early childhood. Her initial skeletal changes included thin ribs, delayed ossification of the juxtatruncal bones, and delayed epiphyseal ossification. The former two became less conspicuous during infancy. Metaphyseal dysplasia was not discerned at birth. However, mild metaphyseal cupping, sclerosis and longitudinal striations became manifest in late infancy, and then progressed with age. It is thought that the skeletal alterations in IMAGe association encompass retarded endochondral ossification normalized later on and mild metaphyseal dysplasia of postnatal onset. © 2008 Wiley‐Liss, Inc.
Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient
Authors: Carvalho Daniel Rocha de , Rossi Natalia Freitas , Schellini Silvana , Moretti‐Ferreira Danilo , Richieri‐Costa Antônio
Published: July 2008

We report on a 4‐year‐old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach–Rott syndrome (SRS) are the same condition. © 2008 Wiley‐Liss, Inc.
Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events
Authors: Dahoun Sophie , Gagos Sarantis , Gagnebin Maryline , Gehrig Corinne , Burgi Carole , Simon Fabienne , Vieux Chantal , Extermann Philippe , Lyle Robert , Morris Michael A. , Antonarakis Stylianos E. , Béna Frédérique , Blouin Jean‐Louis
Published: July 2008

We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at ${\rm 13}{\raise0.5ex\hbox{$\scriptstyle {\rm 5}$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {\rm 7}$}}$ weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non‐mosaic trisomy 21 in T1 (47,XX,+21[7]), and low‐grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]/46,XX[19]). Post mortem examination of fetal skin, kidneys and lungs confirmed trisomy 21 in T1 (47,XX,+21[548]) and the placenta (47,XX,+21[200]). T2 had a normal karyotype (46,XX[648]). Analysis of microsatellite polymorphisms in multiple samples from the placenta, hand, lungs, kidneys and the umbilical cords of both twins confirmed monozygosity for all loci tested, and trisomy 21 in T1. Unexpectedly, T1 and T2 inherited different maternal alleles for markers of the most distal 4 Mbp of 21q. At least four successive events are needed to explain the genetic status of both twins and include maternal MI premature chromatids separation or maternal II meiotic nondisjunction and post‐zygotic events such as, chromosome rescue, nondisjunction, an/or recombination. © 2008 Wiley‐Liss, Inc.
Pierre Robin sequence associated with first trimester fetal tamoxifen exposure
Authors: Berger Joel C. , Clericuzio Carol L.
Published: July 2008

Tamoxifen is a nonsteroidal antiestrogen used as the current adjuvant endocrine treatment of choice for premenopausal women treated for breast cancer and its potential for causing fetal harm during pregnancy remains inconclusive. While the evidence of tamoxifen's effects on humans in utero is minimal, animal studies have shown evidence of teratogenicity, hence the FDA's class D categorization of the drug. In 1994 Cullins et al. published a case report entitled “Goldenhar's Syndrome Associated with Tamoxifen Given to the Mother During Gestation.” At the time of publication, the authors noted that the manufacturer of tamoxifen knew of two cases associated with tamoxifen administration which resulted in congenital craniofacial defects. Cullins' case of Goldenhar syndrome is also a craniofacial disorder and thus represented the third such case. We report on the fourth case of a tamoxifen‐associated craniofacial anomaly. The mother became pregnant while undergoing tamoxifen therapy for breast cancer. A child with severe micrognathia and cleft palate was born. It is noteworthy that the two patterns of craniofacial malformations in tamoxifen exposed infants—Goldenhar syndrome in Cullins' et al. case and Pierre Robin sequence reported here—have also both been observed in isotretinoin exposed infants. While a larger spectrum of anomalies is characteristic of retinoic acid embryopathy, the specific craniofacial anomalies include facial asymmetry, microtia, micrognatha and U‐shaped cleft of the secondary palate, that is, malformations seen in the two tamoxifen exposed infants. Therefore, it is conceivable that these two agents could produce comparable embryotoxic effects if they function in a like way during embryogenesis. While the majority of tamoxifen exposed infants are normal, the ascertainment of teratogenic effects from tamoxifen will best be determined by data from teratogen registries. © 2008 Wiley‐Liss, Inc.
The CASK gene harbored in a deletion detected by array‐CGH as a potential candidate for a gene causative of X‐linked dominant mental retardation
Authors: Hayashi Shin , Mizuno Seiji , Migita Ohsuke , Okuyama Torayuki , Makita Yoshio , Hata Akira , Imoto Issei , Inazawa Johji
Published: July 2008

Here we report on a 5‐year‐old Japanese girl with developmental delay and microcephaly. Although she had a normal karyotype, a bacterial artificial chromosome‐based array‐comparative genome hybridization analysis detected a de novo 4.0‐Mb heterozygous deletion at Xp11.3–p11.4 harboring nine genes. By comparison with a healthy carrier mother of a boy with atypical Norrie disease having a smaller deletion in the same region, we excluded four genes as candidates whose haploinsufficiency would be causative for developmental delay. Among the other five genes, CASK seems to be the most likely candidate for a causative gene, because it is strongly expressed in fetal brain and plays important roles in neural development and synaptic function. We confirmed that the expression of CASK mRNA was decreased in the patient compared with healthy controls and the patient's X‐chromosomal inactivation was not skewed. These results suggested that the genetic deletion of CASK results in haploinsufficiency, which might be causative for the patient's developmental delay or mental retardation. © 2008 Wiley‐Liss, Inc.
Genetic disorders associated with macrocephaly
Authors: Williams Charles A. , Dagli Aditi , Battaglia Agatino
Published: July 2008

Macrocephaly is associated with many genetic disorders and is a frequent cause of referral to the clinical geneticist. In this review we classify the commonly encountered macrocephaly disorders into useful categories and summarize recent genetic advances. Conditions where macrocephaly is a predominant aspect of the clinical presentation are discussed and a diagnostic approach to the common macrocephaly disorders is provided. Some emphasis is placed on familial macrocephaly (sometimes referred to as benign external hydrocephalus) and on the macrocephaly associated with autism spectrum disorders. The more recent conditions associated with the leukodystrophies and the organic acidurias are reviewed, but the well known conditions involving storage disorders and bone dysplasias are mentioned but not discussed. The genetic macrocephaly conditions cover a broad spectrum of gene disorders and their related proteins have diverse biological functions. As of yet it is not clear what precise biological pathways lead to generalized brain overgrowth. © 2008 Wiley‐Liss, Inc.
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
Authors: Douzgou Sofia , Lehmann Katarina , Mingarelli Rita , Mundlos Stefan , Dallapiccola Bruno
Published: July 2008

Du Pan type chondrodysplasia (DPC) represents the milder end of homozygous growth differentiation factor 5 (GDF5) disorders. We report on a 20‐month‐old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in the absence of other anomalies of long bones and joints. Mutational analysis disclosed two novel GDF5 mutations within the protein's mature domain and in the cleavage site of the prodomain which explains the distinct DPC phenotype found in this patient. The unaffected mother and the father who presented with mild brachybaso/mesophalangy of all digits were both heterozygous carriers. © 2008 Wiley‐Liss, Inc.
Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1
Authors: Lodder E.M. , Hoogeboom A.J.M. , Coert J.H. , de Graaff E.
Published: July 2008

Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule involved in chondrocyte formation. So far, only missense mutations in IHH have been reported to cause BrachydactylyA1. We report here on the first deletion in IHH, p.delE95, causing mild BrachydactylyA1 in a small Dutch family. This brings the total number of different mutations found to cause BDA1 to 7. © 2008 Wiley‐Liss, Inc.
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG‐Ia
Authors: Barone Rita , Sturiale Luisa , Sofia Vito , Ignoto Antonella , Fiumara Agata , Sorge Giovanni , Garozzo Domenico , Zappia Mario
Published: July 2008

Congenital disorder of glycosylation (CDG) type Ia (PMM2 mutations) is the most common genetic disorder of protein N‐glycosylation. The wide clinical spectrum with mild to severe impairment of neurological function and extensive allelic heterogeneity hamper phenotype‐genotype comparison. We report on two male adult siblings with the PMM2 mutations c. 385G > A (p.V129M) and c. 422G > A (p.R141H) and partially different clinical phenotype. Patient 2 has a more severe degree of neurological and systemic involvement and a more pronounced decrease in levels of serum glycoproteins. MALDI‐TOF mass spectrometry of serum transferrin and alpha‐1‐antitrypsin shows more pronounced glycosylation defects in the more severely affected patient. Glycoproteomic analysis may reveal differences in CDG‐Ia patients with different disease severity and might endorse clinical characterization of CDG‐Ia patients. © 2008 Wiley‐Liss, Inc.
Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome
Authors: Callier P. , Faivre L. , Thauvin‐Robinet C. , Marle N. , Mosca A.L. , D'Athis P. , Guy J. , Masurel‐Paulet A. , Joly L. , Guiraud S. , Teyssier J.R. , Huet F. , Mugneret F.
Published: July 2008

Genosensor Array 300 (Abbott) is a multiplex platform for array‐based comparative genomic hybridization that detects unbalanced genomic aberrations including whole chromosome gains/losses, microdeletions, duplications and unbalanced subtelomeric rearrangements. A series of 30 patients with unexplained mental retardation, dysmorphic features, congenital abnormalities and normal high resolution karyotype and FISH subtelomeric studies were analyzed using Genosensor Array 300 array‐CGH. We identified a chromosomal aberration in one patient with an interstitial 1p31.1 deletion. FISH analysis with BACs specific probes of the 1p region confirmed the interstitial 1p22.2‐p31.1 deletion. The patient was a 20‐year‐old man with short stature, facial dysmorphism including asymmetry, scoliosis, severe psychomotor delay and an epibulbar dermoid cyst. The phenotype was compatible with Goldenhar syndrome despite the absence of asymmetric ears. This observation is of interest since it could be a clue in the search for the genes responsible for Goldenhar syndrome. This study demonstrates the utility of the array‐CGH technology in detecting interstitial deletions. © 2008 Wiley‐Liss, Inc.
Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation?
Authors: Curry Cynthia J. , Mao Rong , Aston Emily , Mongia Shella K. , Treisman Tamara , Procter Melinda , Chou Bob , Whitby Heidi , South Sarah T. , Brothman Arthur R.
Published: July 2008

We describe two unrelated patients with mental retardation and normal karyotypes found to have relatively large homozygous deletions (>150 kb) of different regions detected by array comparative genomic hybridization (aCGH). Patient 1 showed a 157–214 kb deletion at 8q24.2, containing BAC clone RP11‐17M8. This patient was born to phenotypically normal parents and has microcephaly, distinctive craniofacial features, brachymetacarpia, brachymetatarsia and severe mental retardation. This BAC clone is listed as a copy number variant on the Database of Genomic Variants (http://projects.tcag.ca/variation/). Heterozygosity for the deletion was found in the mother (father is deceased) and uniparental disomy of chromosome 8 was excluded. Patient 2 showed a 812–902 kb deletion at 12q21.1, containing BAC clone RP11‐89P15. This region was not listed in any public database as a known variant. This patient has mild craniofacial dysmorphic features, bifid uvula, peripheral pulmonic stenosis and developmental delay. Heterozygosity for this deletion was confirmed in the phenotypically normal parents and two normal siblings, but surprisingly, homozygosity for the deletion in an apparently normal younger sibling brings into question whether this large homozygous copy number change (CNC) is causal. Homozygous deletions of CNCs have not previously been reported in association with a phenotype or mental retardation. These cases represent homozygosity for presumably benign CNCs, and while causality for the phenotypes cannot be confirmed, similar deletions are bound to be identified more frequently as aCGH is used with increasing regularity. Such homozygous deletions should be viewed as potentially clinically relevant. © 2008 Wiley‐Liss, Inc.
Characterized by conciliation: Here's how business can use apology to diffuse litigation
Authors: Rainey Michael B. , Chan Kit , Begin Judith
Published: July 2008

In Part II of their update on the use of apology in ADR, Michael B. Rainey, of Malibu, Calif., Kit Chan, of Montebello, Calif., and Judith Begin, of Los Angeles, look at specific business examples in health care, product liability, and pharmaceuticals
Nice numbers encourage deeper and wider ADR research
Authors: Bleemer Russ
Published: July 2008

Researchers extract data from the U.S. Department of Justice on government ‐able results on the effectiveness of dispute resolution processes. The time and dollar savings that will be reported in a law review article next year are significant, and carry implications for commercial ADR practices and processes
Probabilistic passage models for semantic search of genomics literature
Authors: Urbain Jay , Goharian Nazli , Frieder Ophir
Published: July 2008

We explore unsupervised learning techniques for extracting semantic information about biomedical concepts and topics, and introduce a passage retrieval model for using these semantics in context to improve genomics literature search. Our contributions include a new passage retrieval model based on an undirected graphical model (Markov Random Fields), and new methods for modeling passage‐concepts, document‐topics, and passage‐terms as potential functions within the model. Each potential function includes distributional evidence to disambiguate topics, concepts, and terms in context. The joint distribution across potential functions in the graph represents the probability of a passage being relevant to a biologist's information need. Relevance ranking within each potential function simplifies normalization across potential functions and eliminates the need for tuning of passage retrieval model parameters. Our dimensional indexing model facilitates efficient aggregation of topic, concept, and term distributions. The proposed passage‐retrieval model improves search results in the presence of varying levels of semantic evidence, outperforming models of query terms, concepts, or document topics alone. Our results exceed the state‐of‐the‐art for automatic document retrieval by 14.46% (0.3554 vs. 0.3105) and passage retrieval by 15.57% (0.1128 vs. 0.0976) as assessed by the TREC 2007 Genomics Track, and automatic document retrieval by 18.56% (0.3424 vs. 0.2888) as assessed by the TREC 2005 Genomics Track. Automatic document retrieval results for TREC 2007 and TREC 2005 are statistically significant at the 95% confidence level (p= .0359 and .0253, respectively). Passage retrieval is significant at the 90% confidence level (p= 0.0893).
Estimating the audience level for library resources
Authors: O'Neill Edward T. , Connaway Lynn Silipigni , Dickey Timothy J.
Published: July 2008

WorldCat, OCLC's bibliographic database, identifies books and the libraries that hold them. The holdings provide detailed information about the type and number of libraries that have acquired the material. Using this information, it is possible to infer the type of audience for which the material is intended. A quantitative measure, the audience level, is derived from the types of libraries that have selected the resource. The audience level can be used to refine discovery, analyze collections, advise readers, and enhance reference services.
A hidden square‐root boundary between growth rate and biomass yield
Authors: Wong Wilson W. , Tran Linh M. , Liao James C.
Published: July 2008

Although the theoretical value of biomass yield can be calculated from metabolic network stoichiometry, the growth rate is difficult to predict. Since the rate and yield can vary independently, no simple relationship has been discovered between these two variables. In this work, we analyzed the well‐accepted enzyme kinetics and uncovered a hidden boundary for growth rate, which is determined by the square‐root of three physiological parameters: biomass yield, the substrate turnover number, and the maximum synthesis rate of the turnover enzyme. Cells cannot grow faster than the square‐root of the product of these parameters. This analysis is supported by experimental data and involves essentially no assumptions except (i) the cell is not undergoing a downshift transition, (ii) substrate uptake enzyme activity is proportional to its copy number. This simple boundary (not correlation) has escaped notice for many decades and suggests that the yield calculation does not predict the growth rate, but gives an upper limit for the growth rate. The relationship also explains how growth rate is affected by the yield and sheds lights on strain design for product formation. Biotechnol. Bioeng. 2009;102: 73–80. © 2008 Wiley Periodicals, Inc.