bluuebunny/crossref_metadata_2025_split huggingface dataset:
A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard‐of‐hearing infants
Authors: Palmer Christina G.S. , Martinez Ariadna , Fox Michelle , Zhou Jin , Shapiro Nina , Sininger Yvonne , Grody Wayne W. , Schimmenti Lisa A. 
Published: May 2009

AbstractThere are limited data on the impact of incorporating genetic counseling and testing into the newborn hearing screening process. We report on results from a prospective, longitudinal study to determine the impact of genetic counseling and GJB2/GJB6 genetic testing on parental knowledge, attitudes, and beliefs about genetic testing. One hundred thirty culturally hearing parents of 93 deaf or hard‐of‐hearing children ages 0–3 years primarily identified through newborn hearing screening received pre‐ and post‐test genetic counseling for GJB2 and GJB6. Parents completed questionnaires following pre‐test counseling, and 1‐ and 6‐month post‐test result disclosure. Results indicate that following pre‐test counseling all parents perceived benefits to genetic testing. While parents who received positive results continued to perceive benefits from testing, perceived benefit declined among parents who received inconclusive or negative results. Parents did not perceive genetic testing as harmful following pre‐test counseling or receipt of test results. Parents who received positive test results performed better in understanding recurrence and causation of their child's deafness and indicated greater interest in prenatal genetic testing than those who received inconclusive or negative test results. Parents felt that pediatricians and audiologists should inform parents of genetic testing availability; however, there was no consensus on timing of this discussion. Thus culturally hearing parents do not perceive genetic testing of their deaf or hard‐of‐hearing infants/toddlers as harmful; they feel that primary care providers should discuss genetic testing with them; and positive genetic test results with genetic counseling give rise to better understanding and perceived benefit than negative or inconclusive results. © 2009 Wiley‐Liss, Inc.
Aberrant GRIA3 transcripts with multi‐exon duplications in a family with X‐linked mental retardation
Authors: Bonnet C. , Leheup B. , Béri M. , Philippe C. , Grégoire M.‐J. , Jonveaux P. 
Published: May 2009

AbstractInvestigation of chromosomal rearrangements in patients with mental retardation (MR) is particularly informative in the search for novel genes involved in MR. We report on a family with a genomic duplication at Xq25 identified by oligo array‐CGH. Further characterization showed a partial tandem duplication of GRIA3 extending from exon 1 to exon 12. This duplication is present in two brothers with MR and on one allele in their sister with normal phenotype and completely skewed X‐chromosome inactivation. The duplication is inherited from the mother, whose cognitive level is low and X‐chromosome inactivation is random. This is the second family with partial duplication of GRIA3 associated with MR. GRIA3 expression studies in our case demonstrated a new mechanism for GRIA3 dysfunction with the presence of aberrant GRIA3 transcripts carrying multi‐exon duplications leading to a frameshift. Our study gives additional support to the implication of GRIA3 in X‐linked MR. © 2009 Wiley‐Liss, Inc.
Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome
Authors: Guimiot Fabien , Marcorelles Pascale , Aboura Azzedine , Bonyhay Georges , Patrier Sophie , Menez Françoise , Drouin‐Garraud Valérie , Icowick Valentine , Eurin Danièle , Garel Catherine , Moirot Hélène , Verspyck Eric , Saugier‐Veber Pascale , Attie‐Bitach Tania , Picone Olivier , Oury Jean François , Verloes Alain , Delezoide Anne Lise , Laquerrière Pr. Annie 
Published: May 2009

AbstractAn hypothalamic hamartoma is an abnormal mass of mature glio‐neuronal tissue present in the hypothalamic area. It usually measures <2 cm of diameter. Most of the time, this hamartoma occurs in Pallister–Hall syndrome (PHS), due to heterozygous GLI3 mutations. We report on five fetuses with giant diencephalic hamartoma and other midline brain and facial malformations, without mutation in the GLI3 gene or genomic rearrangements in three of them. The fetuses showed facial asymmetry, unilateral ear and eye anomalies, and facial cleft. Extracephalic malformations consisted of vertebral anomalies and short nails, without polydactyly and cardiac malformation. The diencephalon was replaced by an encephaloid mass protruding into the facial cleft. Normal cerebral structures were not detectable. In one patient, holoprosencephaly of the syntelencephalic type was noted. Arhinencephaly was present in all patients. Histologically, the ill‐defined, multilobulated lesion was made of neuroblastic and neurocytic cell foci, lying in a fibrillar network, elaborating sometimes perivascular pseudorosettes, with a maturation gradient in accordance with the fetal age. Owing to their location, the tumors could be described as diencephalic, rather than hypothalamic hamartomas. The striking asymmetry of the facial anomalies and the diencephalic malformations are not in the spectrum observed with PHS and related syndromes, suggesting a distinct entity involving abnormal morphogenetic developmental fields at around 5 weeks of gestation. © 2009 Wiley‐Liss, Inc.
Familial odontoid hypoplasia
Authors: Stevens Cathy A. , Pearce Richard G. , Burton Edward M. 
Published: May 2009

AbstractOdontoid hypoplasia is a developmental abnormality, which is often asymptomatic. However significant sequelae can occur in some individuals, particularly after head or neck trauma. This anomaly is not generally known to be familial. We report on four affected individuals in the same family with odontoid hypoplasia, suggesting autosomal dominant inheritance. This is an important observation in that evaluation of family members is warranted in order to identify those at risk of neurologic compromise. © 2009 Wiley‐Liss, Inc.
Intracranial gene delivery of LV‐NAGLU vector corrects neuropathology in murine MPS IIIB
Authors: Di Domenico Carmela , Villani Guglielmo R.D. , Di Napoli Daniele , Nusco Edoardo , Calì Gaetano , Nitsch Lucio , Di Natale Paola 
Published: May 2009

AbstractMucopolysacccharidosis (MPS) IIIB is an inherited lysosomal storage disorder caused by the deficiency of alpha‐N‐acetylglucosaminidase (NAGLU). The disease is characterized by mild somatic features and severe neurological involvement with high mortality. Although several therapeutic approaches have been applied to the murine model of the disease, no effective therapy is available for patients. In this study, we used the lentiviral‐NAGLU vector to deliver the functional human NAGLU gene into the brain of young adult MPS IIIB mice. We report the restoration of active enzyme with a sustained expression throughout a large portion of the brain, and a significantly improved behavioral performance of treated animals. Moreover, we analyzed the effect of therapy on the expression profile of some genes related to neurotrophic signaling molecules and inflammatory cytokines previously found altered in MPS IIIB mice. At 1 month from treatment, the level of cerebellin 1 (Cbln1) was decreased while the brain‐derived neurotrophic factor (Bdnf) expression was increased, both reaching normal values. At 6 months from treatment a significant reduction in the expression of all the inflammation‐ and oxidative stress‐related genes was observed, as well as the maintenance of the correction of the Bdnf gene expression. These results indicate that NAGLU delivery from intracerebral sources has the capacity to alleviate most disease manifestations in MPS IIIB mice; furthermore, Bdnf might be a response‐to‐therapy biomarker for MPS IIIB. © 2009 Wiley‐Liss, Inc.
Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Authors: Jiang Yong‐hui , Fang Ping , Adesina Adekunle M. , Furman Patricia , Johnston Jennifer J. , Biesecker Leslie G. , Brown Chester W. 
Published: May 2009

AbstractDuchenne muscular dystrophy is an X‐linked condition at the severe end of the spectrum of dystrophinopathies. Females with dystrophin mutations are at risk for cardiomyopathy, but are usually asymptomatic during childhood. However, some girls can exhibit features of Duchenne muscular dystrophy because of skewed X‐inactivation, aneuploidy, or chromosomal rearrangement. Oculo‐facio‐cardio‐dental syndrome is a rare X‐linked disorder, lethal in males, that comprises microphthalmia, congenital cataracts, congenital heart defect, canine radiculomegaly, and digital anomalies. We report on a 7‐year‐old girl who was referred for muscular hypotonia, with clinical features of Duchenne muscular dystrophy, including elevated serum creatine phosphokinase, pseudohypertrophy of calf muscles, and muscle weakness, which became evident at 3 years of age. In addition, she had multiple congenital anomalies including atrial septal defect, cataracts, dental and digital anomalies, a constellation that suggested the diagnosis of oculo‐facio‐cardio‐dental syndrome, a condition caused by mutations in BCOR. Immunohistochemistry and Western blot analysis of muscle, and mutation analysis of DMD showed a maternally inherited deletion of exons 30–43, confirming the diagnosis of Duchenne muscular dystrophy. Studies of lymphocytes showed essentially complete skewing of X‐inactivation. Mutation analysis of BCOR revealed a de novo frameshift mutation (c.1005delC). Thus, we report for the first time on an individual with the co‐occurrence of Duchenne muscular dystrophy and oculo‐facio‐cardio‐dental syndrome. © 2009 Wiley‐Liss, Inc.
van den Ende–Gupta syndrome: Evidence for genetic heterogeneity
Authors: Leal Gabriela F. , Silva Elias O. 
Published: May 2009

Abstractvan den Ende–Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands and feet. Growth and development are normal. To date only 11 patients, from 8 families, have been described. Autosomal recessive inheritance has been accepted in this condition, supported by the presence of consanguinity in three families and the recurrence of the disorder within the offspring of unaffected couples. In this article we report on a kindred with three affected individuals, two brothers and their half‐sister, in which the van den Ende–Gupta syndrome is probably transmitted as an autosomal dominant trait in connection with gonadal mosaicism. © 2009 Wiley‐Liss, Inc.
Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations
Authors: Al‐Dirbashi O.Y. , Shaheen R. , Al‐Sayed M. , Al‐Dosari M. , Makhseed N. , Safieh L. Abu , Santa T. , Meyer B.F. , Shimozawa N. , Alkuraya F.S. 
Published: May 2009

AbstractPeroxisomal biogenesis disorders represent a group of genetically heterogeneous conditions that have in common failure of proper peroxisomal assembly. Clinically, they are characterized by a spectrum of dysmorphia, neurological, liver, and other organ involvement. To date, mutations in 13 PEX genes encoding peroxins have been identified in patients with peroxisomal biogenesis disorders. Mutations in PEX13, which encodes peroxisomal membrane protein PEX13, are among the least common causes of peroxisomal biogenesis disorders with only three mutations reported so far. Here, we report on two infants whose clinical and biochemical profile was consistent with classical Zellweger syndrome and whose complementation analysis assigned them both to group H of peroxisomal biogenesis disorders. We show that they harbor two novel mutations in PEX13. One patient had a genomic rearrangement resulting in a 147 kb deletion that spans the whole of PEX13, while the other had an out‐of‐frame deletion of 14 bp. This represents the first report of a PEX13 deletion and suggests that further work is needed to examine the frequency of PEX13 mutations among Arab patients with peroxisomal biogenesis disorders. © 2009 Wiley‐Liss, Inc.
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split‐foot malformation and hearing loss
Authors: Saitsu Hirotomo , Kurosawa Kenji , Kawara Hiroki , Eguchi Maki , Mizuguchi Takeshi , Harada Naoki , Kaname Tadashi , Kano Hiroki , Miyake Noriko , Toda Tatsushi , Matsumoto Naomichi 
Published: May 2009

AbstractWe report on complex rearrangements of the 7q21.3 region in a female patient with bilateral split‐foot malformation and hearing loss. G‐banding karyotype was 46,XX,t(7;15)(q21;q15),t(9;14)(q21;q11.2)dn. By fluorescence, in situ hybridization (FISH), Southern hybridization, and inverse PCR, the 7q21.3 translocation breakpoint was determined at the nucleotide level. The breakpoint did not disrupt any genes, but was mapped to 38‐kb telomeric to the DSS1 gene, and 258‐ and 272‐kb centromeric to the DLX6 and DLX5 genes, respectively. It remains possible that the translocation would disrupt the interaction between these genes and their regulatory elements. Interestingly, microarray analysis also revealed an interstitial deletion close to (but not continuous to) the 7q21.3 breakpoint, indicating complex rearrangements within the split‐hand/foot malformation 1 (SHFM1) locus in this patient. Furthermore, a 4.6‐Mb deletion at 15q21.1‐q21.2 adjacent to the 15q15 breakpoint was also identified. Cloning of the deletion junction at 7q21.3 revealed that the 0.8‐Mb deletion was located 750‐kb telomeric to the translocation breakpoint, encompassing TAC1, ASNS, OCM, and a part of LMTK2. Because TAC1, ASNS, and OCM genes were located on the reported copy number variation regions, it was less likely that the three genes were related to the split‐foot malformation. LMTK2 appeared to be a potential candidate gene for SHFM1, but no LMTK2 mutations were found in 29 individuals with SHFM. Further LMTK2 analysis of SHFM patients together with hearing loss is warranted. © 2009 Wiley‐Liss, Inc.
Thanatophoric dysplasia caused by double missense FGFR3 mutations
Authors: Pannier Stéphanie , Martinovic Jelena , Heuertz Solange , Delezoide Anne‐Lise , Munnich Arnold , Schibler Laurent , Serre Valérie , Legeai‐Mallet Laurence 
Published: May 2009

AbstractThanatophoric dysplasia is a lethal chondrodysplasia caused by heterozygous fibroblast growth factor receptor 3 (FGFR3) missense mutations. Mutations have been identified in several domains of the receptor. The most frequent mutations (p.R248C, p.S249C, p.Y373C) create a cysteine residue within the extracellular domain, whereas the others eliminate the termination codon (p.X807R, p.X807C, p.X807G, p.X807S, p.X807W). Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R]. The p.N540K mutation is associated with 60% of patients with hypochondroplasia and the p.Q485R mutation is a novel mutation located in a highly conserved domain of FGFRs. Evidence for the structural impact of the two concurrent missense mutations was achieved using protein alignments and three‐dimensional structural prediction, in agreement with our modeling of the FGFR3 structure. In this patient with thanatophoric dysplasia, we conclude that the presence of the double FGFR3 missense mutation on the same allele alters the receptor structure, holding the receptor in its fully activated state, thus leading to lethal chondrodysplasia. © 2009 Wiley‐Liss, Inc.
Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review
Authors: Griffith Christopher B. , Vance Gail H. , Weaver David D. 
Published: May 2009

AbstractTrisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two children with trisomy 13 mosaicism and summarize the literature in 47 published cases. Our first patient is a 4‐year‐old male with normal development and dysmorphic features that include right microtia, tall forehead, bulbous nose, and high arched palate. The second patient died at 1 day of life secondary to laryngeal stenosis, a previously undocumented finding in trisomy 13. His other dysmorphic features included micrognathia, cleft soft palate, and an axillary pterygium. Several published case reports of patients with trisomy 13 mosaicism have had the typical phenotype of complete trisomy 13 with death in the neonatal period, while others have had few dysmorphic features and prolonged survival. The most common malformations in all 49 cases included ear anomalies, cleft lip and palate, and various congenital heart defects. Intelligence varied from normal in six patients to significant delays and mental retardation in the remainder of cases. There is no clear correlation between the percentage of trisomic cells and the level of intellectual function. The dysmorphic features seen vary considerably from one patient to the next, often making the clinical diagnosis of trisomy 13 mosaicism difficult. In counseling families, medical professionals should state that trisomy 13 mosaicism may lead to physical abnormalities and poor intellectual outcomes, but that the condition does not do so universally with normal development occurring in some individuals. © 2009 Wiley‐Liss, Inc.
Inv dup del(4)(:p13 → p16.3::p16.3 → qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome
Authors: Paskulin Giorgio A. , Riegel Mariluce , Cotter Philip D. , Kiss Andrea , Rosa Rafael F.M. , Zen Paulo R.G. , Mombach Rômulo , Graziadio Carla 
Published: May 2009

AbstractWe report on a 4‐year‐old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG‐banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole‐genome array comparative genomic hybridization (array‐CGH) identified a duplication of the region 4p13 → 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 → p16.3::p16.3 → qter). The clinical features of our patient differed from those typically observed in Wolf–Hirschhorn syndrome and were more compatible with duplication 4(p14 → p16.3), with preservation of the WHS critical region. © 2009 Wiley‐Liss, Inc.
Bigger than a breadbox; lighter than a heavy heart
Authors: Hill Robert V. 
Published: May 2009

AbstractInexact measurements can have devastating effects in sciences where precision is of paramount importance. In contrast, morphological sciences rely heavily on description, comparison, and estimation to make meaningful inferences about the structure of humans and other animals. A review of the 1918 edition of Gray's Anatomy shows that the tendency to approximate was as marked nearly a century ago as it is today. Occasionally, objects of comparison may themselves become obsolete, necessitating changes in descriptive terminology. Anat Sci Ed 2:135‐136, 2009 © 2009 American Association of Anatomists.
Frequency in usage of FCAT‐approved anatomical terms by North American anatomists
Authors: Martin Bradford D. , Thorpe Donna , Barnes Richard , DeLeon Michael , Hill Douglas 
Published: May 2009

AbstractIt has been 10 years since the Federative Committee on Anatomical Terminology (FCAT) published Terminologia Anatomica (TA), the current authority on anatomical nomenclature. There exists a perceived lack of unity among anatomists to adopt many FCAT recommended anatomical terms in TA. An e‐mail survey was sent to members of the American Association of Anatomists (AAA) to determine the frequency of FCAT term usage by North American anatomists. The survey consisted of 29 questions, including 25 different sets of synonymic names for selected gross anatomical structures or related terms. Overall results indicate that the FCAT preferred term had the highest frequency of usage in only 44.0% of the survey questions. As frequency of use of FCAT terms decreased, the corresponding frequency of use of non‐FCAT terms increased. Some questions showed almost complete compliance with the FCAT preferred terms (highest = 98.4% usage) to almost complete disregard for the FCAT terms (lowest = 0.8% usage). A slight association (P = 0.06) may exist between FCAT familiarity and concern for usage of synonymic terms. The more familiar anatomists were with the FCAT, the more concerned they were with anatomic synonyms. Anat Sci Ed 2:94‐106, 2009. © 2009 American Association of Anatomists.
Highly Ordered Mesoporous Carbon as Catalyst for Oxidative Dehydrogenation of Ethylbenzene to Styrene
Authors: Su Dang Sheng , Delgado Juan Jose , Liu Xi , Wang Di , Schlögl Robert , Wang Lifeng , Zhang Zhe , Shan Zhichao , Xiao Feng‐Shou 
Published: May 2009

AbstractHighly active, selective, and stable: Highly ordered mesoporous carbon without deposition of metal particles catalyzes the oxidative dehydrogenation of ethyl benzene to styrene. A high activity and selectivity as well as long catalytic stability when compared with activated carbon, is observed from this catalyst.magnified imageWe demonstrate that mesoporous carbon without deposition of metal particles is a highly active catalyst. It exhibits both high activity and selectivity in oxidative dehydrogenation of ethylbenzene to styrene, as well as long catalytic stability when compared with activated carbon. Both the as‐prepared mesoporous carbon and the active coke formed during the initial stage of the reaction play an important role in the catalytic performance. XPS and IR techniques reveal that the surface oxygen functional groups formed during the reaction are the active sites for the reaction. The ordered mesoporous structure is beneficial for mass transport in catalytic reaction exhibiting long term stability in contrast to activated carbon.
Social representations of refugees: Place of origin as a delineating resource
Authors: Hanson‐Easey Scott , Moloney Gail 
Published: May 2009

AbstractThis study investigated social understandings of refugees from Africa in a regional town in NSW, Australia. Drawing from Social Representations Theory (Moscovici, 1984), the study investigated whether place of origin (Africa) mediated understandings held about refugees. Two studies were conducted. In the first study, a between‐subjects manipulation using word association tasks revealed that the super‐ordinate term Refugees, and Refugees from Africa shared a common core of elements (poor, war). Although sharing a core, these representations were differentiated by peripheral elements which concurred with social understanding of Africa (e.g. disease), and media portrayal of refugees/asylum seekers (e.g. boat). The salience of these meanings in the community was further explored using a self‐report questionnaire. Results suggested that place of origin, manifested as peripheral representational elements, may play an important role in differentiating, orientating and linking specific refugee groups to particular socio‐political contexts. Further, we contend that place of origin may be understood as a discursive resource, deployed for rhetorical ends. Copyright © 2009 John Wiley & Sons, Ltd.