bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ulnar mammary syndrome and TBX3: Expanding the phenotype
Authors: Linden Helen , Williams Rosy , King Janet , Blair Edward , Kini Usha 
Published: November 2009

AbstractWe present a patient with features of Ulnar Mammary syndrome (UMS) consisting of bilateral ulnar defects, inverted nipples, short stature with associated growth hormone deficiency, and cryptorchidism. Our patient also had a hypoplastic anterior pituitary and an ectopic posterior pituitary gland, ventricular septal defect (VSD), and cardiac conduction defects consistent with Wolff–Parkinson–White (WPW) syndrome. Although TBX3 is known to be expressed in both the developing heart and the pituitary gland, conduction defects and anatomical pituitary abnormalities have not been previously described in UMS. This may, in part, be due to the fact that these features are not actively sought in individuals with UMS. Because these new findings have important clinical implications, we suggest that clinicians caring for individuals with UMS offer brain imaging, growth hormone testing, and cardiac arrhythmia screening. The diagnosis of UMS was confirmed on mutation analysis of TBX3. The mother of the propositus was also found to carry the same mutation, although she did not show the classical features of UMS. Therefore, our report also supports the variable expressivity of UMS within the same family. © 2009 Wiley‐Liss, Inc.
Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia
Authors: Brockmann Knut , Backes Heiko , Auber Bernd , Kriebel Thomas , Stellmer Franziska , Zoll Barbara 
Published: November 2009

AbstractThe oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array‐based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition. © 2009 Wiley‐Liss, Inc.
“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women
Authors: Archibald Alison D. , Jaques Alice M. , Wake Samantha , Collins Veronica R. , Cohen Jonathan , Metcalfe Sylvia A. 
Published: November 2009

AbstractPopulation carrier screening for fragile X syndrome can provide women with information about their risk of having a child with fragile X syndrome and their risk of fragile X‐associated primary ovarian insufficiency and fragile X‐associated tremor ataxia syndrome. Few studies have explored women's decisions when offered carrier screening for fragile X syndrome. Interviews were conducted with 31 women who participated in a pilot study offering carrier screening to non‐pregnant women. A qualitative approach was used to gain an in‐depth understanding of women's experiences and examine their decision‐making processes, including women who were tested and those who decided not to be tested. The decision‐making process occurred in two phases. In the first phase, the participant's reproductive stage of life and experience with illness and disability were major factors influencing whether she would consider screening. In the second phase of decision‐making, participants' perceptions of the value of knowing their carrier status was the most notable factor for influencing whether a woman actually had the carrier test. Some women appreciated having time for deliberation and those who were tested did not express regret about their decision. Our findings support offering carrier screening for fragile X syndrome to non‐pregnant women and suggest that women from the general population will have specific informational and counseling needs when offered carrier testing. This study highlights the unique challenges encountered by women from the general population when making a decision about testing for fragile X syndrome carrier status and illustrates the importance of understanding how women make decisions. © 2009 Wiley‐Liss, Inc.
Pseudoaminopterin syndrome: Clinical report with new characteristics
Authors: Sobreira N. , Cernach M. , Batista D. , Brunoni D. , Perez A. 
Published: November 2009

AbstractFetuses exposed to aminopterin during the 8th–9th week of development may show aminopterin embryophathy (AE). Surviving children have a specific phenotype that includes unusual face, skull, and skeletal abnormalities. Fraser et al. [Fraser et al. (1987); Clin Genet 32:28–34] described two children with multiple malformations characteristic of the aminopterin syndrome but without history of exposure to aminopterin in the mothers and suggested that this represents a new syndrome, the aminopterin syndrome‐like sine aminopterin (ASSA) syndrome. Here we describe a 9‐year‐old girl, born to unaffected first cousin parents. She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular hypertelorism, epicanthal folds, palpebral ptosis; oligodontia; low‐set and small ears with hypoplasia of antihelices; brachydactyly, clinodactyly of both 4th and 5th fingers; hypoplasia of the 4th metacarpal and clinodactyly of the 4th and 5th toes; overlap of the second over the third toe; bilateral hip luxation; patent foramen ovale; left posterior diaphragmatic hernia, absence of spleen and horseshoe kidney. She, her mother and her brother have a karyotype of 46,XX, with an inv(9)(p12q13) polymorphism. Although this patient has some characteristics did not described before in patients with ASSA such as, palpebral ptosis, oligodontia, left posterior diaphragmatic hernia, absence of spleen, and horseshoe kidney, her phenotype strongly suggest she has the pseudoaminopterin syndrome. However, we do not exclude the possibility that this is a different condition not described previously. © 2009 Wiley‐Liss, Inc.
A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities
Authors: Spiegel Ronen , Horovitz Yoseph , Peters Hartmut , Erdogan Fikret , Chervinsky Ilana , Shalev Stavit A. 
Published: November 2009

AbstractWe report on three individuals of Muslim Arab origin from a village located in Northern Israel affected by an apparent autosomal recessive syndrome characterized by distinctive facial phenotype of which the most prominent feature is ocular hypertelorism. The other clinical features of the syndrome include variable degree of mental retardation, genital abnormalities dominated by short penis, and skeletal abnormalities including chest deformity (combination of upper pectus carinatum with lower pectus excavatum), and short palms with broad short fingers. Affected individuals displayed distinctive facial features including upslanting palpebral fissures, thick eyebrows, long philtrum, wide mouth with thin upper lip and upturned corners of the mouth, widow's peak, broad nasal bridge, and simple ears with fleshy overfolded helices. This phenotype does not fully meet typical diagnostic features of any known condition. © 2009 Wiley‐Liss, Inc.
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism
Authors: Chiang Pei‐Wen , Spector Elaine , McGregor Tracy L. 
Published: November 2009

AbstractWaardenburg syndrome (WS) is a series of auditory–pigmentary disorders inherited in an autosomal dominant manner. In most patients, WS2 results from mutations in the MITF gene. MITF encodes a basic helix‐loop‐helix transcription factor that activates transcription of tyrosinase and other melanocyte proteins. The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the presence of modifiers. One family with a molecular diagnosis of WS2 co‐segregating with OA has previously been reported. A digenic mutation mechanism including both a MITF mutation and the TYRR402Q hypomorphic allele was proposed to be the cause of OA in this family. Here, we present a second WS2 family with OA and provide evidence suggesting the TYRR402Q allele does not cause OA in this family. We hypothesize the presence of a novel OCA3 mutation together with the MITF del p.R217 mutation account for the OA phenotype in this family. Since MITF is a transcription factor for pigmentation genes, a mutation in MITF plus a heterozygous mutation in OCA3 together provide an adverse effect crossing a quantitative threshold; therefore, WS2 with OA occurs. We have hypothesized previously that the clinical spectrum and mutation mechanism of OCA depend on the pigmentation threshold of an affected individual. This unique family has provided further evidence supporting this hypothesis. We suggest that by studying OCA patients alongside WS patients with various pigmentation profiles we can facilitate further understanding of the pigmentation pathway. © 2009 Wiley‐Liss, Inc.
Association study of NRG1, DTNBP1, RGS4, G72/G30, and PIP5K2A with schizophrenia and symptom severity in a Hungarian sample
Authors: Réthelyi János M. , Bakker Steven C. , Polgár Patrícia , Czobor Pál , Strengman Eric , Pásztor Péter I. , Kahn René S. , Bitter István 
Published: November 2009

AbstractGenetic association studies have yielded extensive but frequently inconclusive data about genetic risk factors for schizophrenia. Clinical and genetic heterogeneity are possible factors explaining the inconsistent findings. The objective of this study was to test the association of commonly incriminated candidate genes with two clinically divergent subgroups, non‐deficit (SZ‐ND) and deficit‐schizophrenia (SZ‐D), and symptom severity, in order to test for replication of previously reported results. A homogeneous sample of 280 schizophrenia patients and 230 healthy controls of Hungarian, Caucasian descent were genotyped for polymorphisms in schizophrenia candidate genes NRG1, DTNBP1, RGS4, G72/G30, and PIP5K2A. Patients were divided into the diagnostic subgroups of SZ‐ND and SZ‐D using the Schedule for Deficit Syndrome (SDS), and assessed clinically by the Positive and Negative Symptom Scale (PANSS). SNP8NRG241930 in NRG1 and rs1011313 in DTNBP1 were associated with SZ‐ND (P = 0.04 and 0.03, respectively). Polymorphisms in RGS4, G72/G30, and PIP5K2A were neither associated with SZ‐ND nor with SZ‐D. SNP8NRG241930 showed association with the PANSS cognitive and hostility/excitability factors, rs1011313 with the negative factor and SDS total score, and rs10917670 in RGS4 was associated with the depression factor. Although these results replicate earlier findings about the genetic background of SZ‐ND and SZ‐D only partially, our data seem to confirm previously reported association of NRG1 with schizophrenia without prominent negative symptoms. It was possible to detect associations of small‐to‐medium effect size between the investigated candidate genes and symptom severity. Such studies have the potential to unravel the possible connection between genetic and clinical heterogeneity in schizophrenia. © 2009 Wiley‐Liss, Inc.
Synergy effect of hybrid fillers on the positive temperature coefficient behavior of polypropylene/ultra‐high molecular weight polyethylene composites
Authors: Li Qi , Basavarajaiah Siddaramaiah , Kim Nam Hoon , Heo Seok‐Bong , Lee Joong Hee 
Published: November 2009

AbstractHybrid nanocomposites of polypropylene/ultra‐high molecular weight polyethylene (PP/UHMWPE, 70/30) with various amounts of carbon black (CB) and carboxylated multiwalled carbon nanotubes (c‐MWNTs) were prepared by the solution mixing and melt blending techniques. The effects of the mixture of CB and c‐MWNTs on the positive‐temperature‐coefficient (PTC) behavior and the negative‐temperature‐coefficient (NTC) behavior, as well as the room temperature resistivity, were studied. The transmission electron microscopy (TEM) images showed that the CB particles were aggregated at the interface, between PP and UHMWPE. This selective localization of the CB particles at the interface along with the formation of continuous conducting media leads to the formation of additional conducting networks, resulting in a percolation threshold at a low CB content. A synergy effect of the hybrid conducting fillers of CB and c‐MWNTs on the PTC behavior of the hybrid blends was also observed. The room temperature resistivity was reduced significantly by the incorporation of the c‐MWNTs into the PP/UHMWPE/CB composite. The intensity and repeatability of the PTC effect in the nanocomposites were improved and the NTC effect weakened by incorporating a small amount (0.5 wt %) of c‐MWNTs. © 2009 Wiley Periodicals, Inc. J Appl Polym Sci, 2010
The Relationship Between Cephalic Scales and Bones in Lizards: A Preliminary Microtomographic Survey on Three Lacertid Species
Authors: Costantini David , Alonso Maria Lapresa , Moazen Mehran , Bruner Emiliano 
Published: November 2009

AbstractIn the last two decades, there has been a great deal of interest in the morphology and anatomy of the lizard skull in an ecological and evolutionary perspective. However, the relationship between variations in many key anatomical features remains largely unknown. Using microtomography and geometric morphometrics, we examined the relationship between bones and scales associated with the parietal foramen in the three lizards species most common in the Italian peninsula: Podarcis muralis, P. sicula, and Lacerta bilineata. The imprints of the scales are clearly recognizable on the outer bone surface, and this may suggest a structural interaction between these elements. The temporal osteoderms are visible in the larger males and in the larger females of L. bilineata, but they are absent in the smaller specimens of L. bilineata and in all Podarcis specimens. Two parallel rows of pterygoid teeth are present in all the specimens of L. bilineata and are absent in the smaller male of L. bilineata and in both Podarcis species. Cheek osteoderms occurred only in the largest specimens of our sample (i.e., large L. bilineata), being possibly related to hyperostotic processes and densitometric thresholds more than to phylogeny. Minor differences may be also associated with the form of the parietal foramen. In absolute terms the parietal foramen tends to be largest in L. bilineata but in relation to skull length the foramen tends to be larger in P. muralis. In this latter species the foramen is also more elongated. In all three species the fronto‐parietal suture occupies a similar location relatively to the scale spatial organization. A shared allometric pattern shows that the main vault enlargement can be localised at the areas anterior to the fronto‐parietal suture, providing further information on the possible morphogenetic dynamics associated with the interaction between scales and bones around this structure. Anat Rec, 2010. © 2009 Wiley‐Liss, Inc.
Doctors' online information needs, cognitive search strategies, and judgments of information quality and cognitive authority: How predictive judgments introduce bias into cognitive search models
Authors: Hughes Benjamin , Wareham Jonathan , Joshi Indra 
Published: November 2009

AbstractLiterature examining information judgments and Internet search behaviors notes a number of major research gaps, including how users actually make these judgments outside of experiments or researcher‐defined tasks, and how search behavior is impacted by a user's judgment of online information. Using the medical setting, where doctors face real consequences in applying the information found, we examine how information judgments employed by doctors to mitigate risk impact their cognitive search. Diaries encompassing 444 real clinical information search incidents, combined with semistructured interviews across 35 doctors, were analyzed via thematic analysis. Results show that doctors, though aware of the need for information quality and cognitive authority, rarely make evaluative judgments. This is explained by navigational bias in information searches and via predictive judgments that favor known sites where doctors perceive levels of information quality and cognitive authority. Doctors' mental models of the Internet sites and Web experience relevant to the task type enable these predictive judgments. These results suggest a model connecting online cognitive search and information judgment literatures. Moreover, this implies a need to understand cognitive search through longitudinal‐ or learning‐based views for repeated search tasks, and adaptations to medical practitioner training and tools for online search.
Impact of α‐hydroxy‐propanodeoxyguanine adducts on DNA duplex energetics: Opposite base modulation and implications for mutagenicity and genotoxicity
Authors: Minetti Conceição A. S. A. , Remeta David P. , Johnson Francis , Iden Charles R. , Breslauer Kenneth J. 
Published: November 2009

AbstractAcrolein is an α,β‐unsaturated aldehyde that is a major environmental pollutant, as well as a product of cellular metabolism. DNA bases react with acrolein to form two regioisomeric exocyclic guanine adducts, namely γ‐hydroxy‐propanodeoxyguanosine (γ‐OH‐PdG) and its positional isomer α‐hydroxy‐propanodeoxyguanosine (α‐OH‐PdG). The γ‐OH‐PdG isomer adopts a ring‐opened conformation with minimal structural perturbation of the DNA host duplex. Conversely, the α‐OH‐PdG isomer assumes a ring‐closed conformation that significantly disrupts Watson‐Crick base‐pair alignments within the immediate vicinity of the damaged site. We have employed a combination of calorimetric and spectroscopic techniques to characterize the thermodynamic origins of these lesion‐induced structural alterations. Specifically, we have assessed the energetic impact of α‐OH‐PdG centered within an 11‐mer duplex by hybridizing the adduct‐containing oligonucleotide with its complementary strand harboring a central base N [where N = C or A], yielding a pair of duplexes containing the nascent lesion (α‐OH‐PdG·C) or mismatched adduct (α‐OH‐PdG·A), respectively. Our data reveal that the nascent lesion is highly destabilizing, whereas its mismatched counterpart partially ameliorates α‐OH‐PdG‐induced destabilization. Collectively, our data provide energetic characterizations of the driving forces that modulate error‐free versus error‐prone DNA translesion synthesis. The biological implications of our findings are discussed in terms of energetically probing acrolein‐mediated mutagenicity versus adduct‐induced genotoxicity. © 2009 Wiley Periodicals, Inc. Biopolymers 93: 370–382, 2010.This article was originally published online as an accepted preprint. The “Published Online” date corresponds to the preprint version. You can request a copy of the preprint by emailing the Biopolymers editorial office at biopolymers@wiley.com
Biosynthesis of polylactic acid and its copolymers using evolved propionate CoA transferase and PHA synthase
Authors: Yang Taek Ho , Kim Tae Wan , Kang Hye Ok , Lee Sang‐Hyun , Lee Eun Jeong , Lim Sung‐Chul , Oh Sun Ok , Song Ae‐Jin , Park Si Jae , Lee Sang Yup 
Published: November 2009

AbstractFor the synthesis of polylactic acid (PLA) and its copolymers by one‐step fermentation process, heterologous pathways involving Clostridium propionicum propionate CoA transferase (PctCp) and Pseudomonas sp. MBEL 6‐19 polyhydroxyalkanoate (PHA) synthase 1 (PhaC1Ps6‐19) were introduced into Escherichia coli for the generation of lactyl‐CoA endogenously and incorporation of lactyl‐CoA into the polymer, respectively. Since the wild‐type PhaC1Ps6‐19 did not efficiently accept lactyl‐CoA as a substrate, site directed mutagenesis as well as saturation mutagenesis were performed to improve the enzyme. The wild‐type PctCp was not able to efficiently convert lactate to lactyl‐CoA and was found to exert inhibitory effect on cell growth, random mutagenesis by error‐prone PCR was carried out. By employing engineered PhaC1Ps6‐19 and PctCp, poly(3‐hydroxybutyrate‐co‐lactate), P(3HB‐co‐LA), containing 20–49 mol% lactate could be produced up to 62 wt% from glucose and 3HB. By controlling the 3HB concentration in the medium, PLA homopolymer and P(3HB‐co‐LA) containing lactate as a major monomer unit could be synthesized. Also, P(3HB‐co‐LA) copolymers containing various lactate fractions could be produced from glucose alone by introducing the Cupriavidus necator β‐ketothiolase and acetoacetyl‐CoA reductase genes. Fed‐batch cultures were performed to produce P(3HB‐co‐LA) copolymers having 9–64 mol% of lactate, and their molecular weights, thermal properties, and melt flow properties were determined. Biotechnol. Bioeng. 2010; 105: 150–160. © 2009 Wiley Periodicals, Inc.
Impact of a multifunctional image-guided therapy suite on emergency multiple trauma care
Authors: Gross T , Messmer P , Amsler F , Füglistaler-Montali I , Zürcher M , Hügli R W , Regazzoni P , Jacob A L 
Published: November 2009

Abstract

Background
The multifunctional image-guided therapy suite (MIGTS), a combined diagnostic and operating theatre, is currently the subject of considerable interest. This study investigated the effect of instituting a MIGTS on the emergency treatment of multiply injured patients.

Methods
This prospective controlled intervention study (MIGTS versus conventional treatment) included consecutive multiply injured trauma patients (Injury Severity Score of 16 or more) admitted between February 2003 and April 2005 to a university hospital. Main outcome measures were time to computed tomography (CT) and number of in-hospital transfers.

Results
A total of 168 patients were enrolled, 87 in the MIGTS and 81 in the control group. On average, CT was started at least 13 min sooner in the MIGTS group (P &lt; 0·001), and these patients underwent fewer within-hospital transfers before arrival in the intensive care unit (median 2 versus 4 for controls; odds ratio −2·92, P &lt; 0·001). Team members indicated increased satisfaction with the quality of the MIGTS procedure over the course of the study (P = 0·009). Thirty-day mortality rate (17 per cent for MIGTS versus 22 per cent for controls; P = 0·420) and long-term outcome did not differ between the two groups.

Conclusion
Implementation of a MIGTS in the emergency treatment of multiple trauma significantly accelerated the procedure and reduced the number of in-hospital transports. Registration number: NCT0072213 (http://www.clinicaltrials.gov).
Development of a laboratory project to determine human ABO genotypes—Limitations lead to further student explorations
Authors: Salerno Theresa A. 
Published: November 2009

AbstractA multiplex allele‐specific PCR analysis was developed to identify six “common” genotypes: AA, AO, BB, BO, OO, and AB. This project included a pre‐laboratory exercise that provided active learning experiences and developed critical thinking skills. This laboratory resulted in many successful analyses, which were verified by student knowledge of their phenotypes. However, the design was found to be deficient for the analysis of variants. The limitations in the original allied‐health multiplex design were verified through a student designed problem‐based laboratory project in an advanced level biochemistry class. Variants were further analyzed in an undergraduate research project using SSCP analyses. The topic of ABO genotyping provides several opportunities for student‐centered explorations.