bluuebunny/crossref_metadata_2025_split huggingface dataset:
Descriptive epidemiology of Cornelia de Lange syndrome in Europe
Authors: Barisic Ingeborg , Tokic Visnja , Loane Maria , Bianchi Fabrizio , Calzolari Eliza , Garne Ester , Wellesley Diana , Dolk Helen ,   EUROCAT Working Group
Published: December 2007

AbstractCornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population‐based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980–2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6–2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed ≤2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males. © 2007 Wiley‐Liss, Inc.
Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q‐phenotype
Authors: Sensi Alberto , Prontera Paolo , Buldrini Barbara , Palma Silvia , Aiello Vincenzo , Gruppioni Rita , Calzolari Elisa , Volinia Stefano , Martini Alessandro 
Published: December 2007

AbstractWe report on a 3‐year‐old child who presented a de novo rearrangement of chromosome 4, detected on GTG banding and characterized by array CGH and FISH, as a complex intrachromosomal rearrangement with three deletions: del(q32.1q32.2), del(q33q34.1), del(q35.2), one tandem duplication dup(q34.3q35.1) and short normal regions in between. The study of karyotype–phenotype correlations in this and other patients with deletions of 4q suggests 4q33q34.1 as a candidate region for 4q‐syndrome and for craniofacial development. © 2007 Wiley‐Liss, Inc.
Major gene and multifactorial inheritance of mandibular prognathism
Authors: Cruz Ricardo Machado , Krieger Henrique , Ferreira Ricardo , Mah James , Hartsfield James , Oliveira Silviene 
Published: December 2007

AbstractMandibular prognathism typically shows familial aggregation. Various genetic models have been described and it is assumed to be a multifactorial and polygenic trait, with a threshold for expression. Our goal was to examine specific genetic models of the familial transmission of this trait. The study sample comprised of 2,562 individuals from 55 families. Complete family histories for each proband were ascertained and the affection status of relatives were confirmed by lateral cephalograms, photographs, and dental models. Pedigrees were drawn using PELICAN and complex segregation analysis was performed using POINTER. Parts of some pedigrees were excluded to create one founder pedigrees, so the total N was 2,050. Analysis showed more affected females than males (P = 0.030). The majority of the pedigrees suggest autosomal dominant inheritance. Incomplete penetrance was demonstrated by the ratio of affected/unaffected parents and siblings. The heritability of mandibular prognathism was estimated to be 0.316. We conclude that there is a major gene that influences the expression of mandibular prognathism with clear signs of Mendelian inheritance and a multifactorial component. © 2007 Wiley‐Liss, Inc.
A child with deletion (14)(q24.3q32.13) and auditory neuropathy
Authors: Schlade‐Bartusiak Kamilla , Macintyre Georgina , Zunich Janice , Cox Diane W. 
Published: December 2007

AbstractAn interstitial deletion in the middle and distal part of chromosome 14 is a rare chromosomal abnormality characterized by a wide spectrum of phenotypic manifestations. We present a patient with a nearly 20 Mb interstitial deletion of chromosome 14q24.3q32.13 determined by FISH, that is associated with minor dysmorphic features, developmental delay, absent speech and auditory neuropathy. The deleted region contains 130 known genes, among them 48 with reported function or association with human disease. The patient's phenotype is compared with interstitial deletions of the distal part of chromosome 14 reported previously. We hypothesize, that there is (are) a gene (genes) in the 14q32.11–q32.13 that is (are) important for the hearing process and for which haploinsufficiency can cause auditory neuropathy. Several genes in the region, among them calmodulin, chromogranin A, the goosecoid and FOXN3, can contribute to the observed phenotype. Detailed mapping in additional patients with 14q32 deletions and hearing loss could further define the candidate region. © 2007 Wiley‐Liss, Inc.
Neurofibromatosis 1: Analysis of the demand for prenatal diagnosis in a French cohort of 361 patients
Authors: Farhi David , Bastuji‐Garin Sylvie , Khosrotehrani Kiarash , Vidaud Dominique , Bellane Christine , Revuz Jean , Wolkenstein Pierre 
Published: December 2007

AbstractThe severity of neurofibromatosis 1 and its variable expressivity make prenatal diagnosis appealing. We conducted our research to assess patient characteristics associated with the desire for prenatal diagnosis. Between 1995 and 2004, 361 neurofibromatosis 1 adult patients were interviewed about their desire for prenatal diagnosis. Answers were classified in three groups: (1) ‘no;’ (2) ‘uncertain;’ (3) ‘yes.’ Socio‐demographical and clinical data were analyzed by logistic multinomial regression for their association with the desire for prenatal diagnosis. Male‐to‐female sex ratio was 0.93. Mean age at study ± SD was 33.5 ± 10. Seven four patients (20.5%) would consider prenatal diagnosis; 240 (66.5%) did not; and 47 (13.0%) were uncertain. In multivariate analysis, compared to the ‘no’ group, a longer follow‐up (OR = 1.25 [1.11–1.41]), a younger age at study time (OR = 1.25 [1.11–1.41]), not having child (OR = 2.46 [1.03–5.97]) and a higher educational level (OR = 5.07 [1.05–24.47]) were independently associated with the ‘yes’ group. Compared to the ‘no’ group individuals who were in the ‘uncertain’ groups were younger (0.95 [0.90–0.99]), less often married (0.11 [0.01–0.89]) and had a longer follow‐up (1.26 [1.09–1.46]). There is a significant demand for prenatal diagnosis among neurofibromatosis 1 French patients. This demand is associated with individuals who are younger, have no child, have a longer follow up, and higher level of education. © 2007 Wiley‐Liss, Inc.
Retention of African American women in cancer genetics research
Authors: Halbert Chanita Hughes , Love Deja , Mayes Tynisha , Collier Aliya , Weathers Benita , Kessler Lisa , Stopfer Jill , Bowen Deborah , Domchek Susan 
Published: December 2007

AbstractAlthough retention is a critical component of longitudinal cancer genetics research, limited empirical data are available on predictors of study retention among populations that are difficult to enroll. We evaluated predictors of retention in cancer genetics research among African American women at increased risk for having a BRCA1 and BRCA2 (BRCA1/2) mutation. Participants were African American women (n = 192) at increased risk for hereditary breast‐ovarian cancer who were enrolled in a longitudinal genetic counseling research study. Retention was evaluated separately for the 1‐ and 6‐month follow‐ups and in terms of overall retention (e.g., completion of both telephone interviews). Seventy‐three percent of women and 65% of women were retained at the 1‐ and 6‐month follow‐ups respectively; in terms of overall retention, 60% of women were retained in both follow‐up telephone interviews. Predictors of retention at 1‐month included being employed (OR = 2.47, 95% CI = 1.24, 4.93, P = 0.01) whereas predictors of overall retention included having a personal history of breast and/or ovarian cancer (OR = 2.06, 95% CI = 1.07, 3.95, P = 0.03) and having completed genetic counseling (OR = 2.63, 95% CI = 1.39, 4.98, P = 0.003). These data suggest that once enrolled in genetic counseling research, the majority of African American women will continue to participate, especially if concrete clinical services are provided. © 2007 Wiley‐Liss, Inc.
The rapid estimate of adult literacy in genetics (REAL‐G): A means to assess literacy deficits in the context of genetics
Authors: Erby Lori H. , Roter Debra , Larson Susan , Cho Juhee 
Published: December 2007

AbstractGenetic information presents challenges to all patients, but particularly those with low and marginal literacy. The goal of the study was to create a rapid estimate of adult literacy in genetics (REAL‐G) tool, with established validity, for use with patients receiving genetics services. Patterned after the widely used rapid estimate of adult literacy in medicine (REALM), a three‐stage method was used in tool development. This included derivation of terms from transcripts of visits conducted by over 150 prenatal and cancer genetic counselors. Concurrent validity was estimated by administration of both the REAL‐G and the REALM to 203 participants. Predictive validity was estimated by relating participants' REAL‐G scores to scores on a learning task that involved viewing a videotaped genetic counseling session and answering related questions. The REAL‐G measure was strongly correlated with the REALM (Pearson correlation = 0.83; P < 0.0001), indicating substantial concurrent validity in a population of potential genetic counseling patients. Using the REALM as the gold standard, REAL‐G scores identified readers at the sixth grade level or below (95.4% sensitivity and 88.5% specificity). Further analysis identified an eight‐item subset of words that has strong concurrent validity when compared to longer instruments and even greater predictive power in relation to information recall. Subjects scoring below the sixth grade level on the eight‐item REAL‐G scored significantly lower than others on knowledge tests after viewing genetic counseling visits. The REAL‐G represents a screening tool that can be used to quickly identify low literate patients in the clinical genetics context or to quantify context‐specific literacy within a research setting. © 2007 Wiley‐Liss, Inc.
Acute postnatal cataract formation in Smith‐Lemli‐Opitz syndrome
Authors: Goodwin Halima , Brooks Brian P. , Porter Forbes D. 
Published: December 2007

AbstractWe report on two patients with severe Smith‐Lemli‐Opitz syndrome who acutely developed postnatal cataracts. These postnatal cataracts appear to be due to a different pathological mechanism and have a different clinical course than the typical congenital cataracts that occur in SLOS. The rapid development of these cataracts suggests that dysfunction or rupture of the lens capsule leading to acute osmotic shifts contributes to their formation. In addition, cataract formation in these patients was associated with conjunctival injection, fibrotic irido‐lenticular adhesions, and capsular fibrosis. These findings are suggestive an inflammatory component that is consistent with impaired competence of the lens capsule. © 2007 Wiley‐Liss, Inc.
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation
Authors: Zankl Andreas , Elakis George , Susman Rachel D. , Inglis Garry , Gardener Glenn , Buckley Michael F. , Roscioli Tony 
Published: December 2007

AbstractWe present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in the literature, confirms the severe morbidity and adds to the reports with early mortality associated with SADDAN. Clinical–radiological characteristics of all reported cases of SADDAN are reviewed and discussed. © 2007 Wiley‐Liss, Inc.
Risk factors for sporadic Creutzfeldt–Jakob disease
Authors: Ward Hester J. T. , Everington Dawn , Cousens Simon N. , Smith‐Bathgate Blaire , Gillies Michelle , Murray Katy , Knight Richard S. G. , Smith Peter G. , Will Robert G. 
Published: December 2007

AbstractObjectiveAlthough surgical transmission of Creutzfeldt–Jakob disease (CJD) has been demonstrated, these iatrogenic cases account for only a small proportion of all CJD cases. The majority are sporadic CJD (sCJD) cases of unknown cause. This study investigated whether some cases classified as sCJD might have an unrecognized iatrogenic basis through surgical or other medical proceduresMethodsThis study compared medical risk factors from 431 sCJD cases referred 1998 to 2006 with 454 population control subjects. Possible geographic and temporal links between neurological and gynecological operations in 857 sCJD cases referred from 1990 to 2006 were investigatedResultsA reported history of ever having undergone surgery was associated with increased risk for sCJD (odds ratio, 2.0; 95% confidence interval, 1.3–2.1; p = 0.003). Increased risk was not associated with surgical categories chosen a priori but was confined to the residual category “other surgery,” in which the increase in risk appeared most marked for three subcategories: skin stitches, nose/throat operations, and removal of growths/cysts/moles. No convincing evidence was found of links (same hospital, within 2 years) between cases undergoing neurosurgery or gynecological surgeryInterpretationIt is unlikely that a high proportion of UK sCJD cases are the result of transmission during surgery, but we cannot exclude the possibility that such transmission occurs occasionally. A study based on accurate surgical histories obtained from medical records is required to determine whether the increased risk associated with reported surgical history reflects a causal association or recall bias. Ann Neurol 2007
Chemistry and Biology of the Aeruginosin Family of Serine Protease Inhibitors
Authors: Ersmark Karolina , Del Valle Juan R. , Hanessian Stephen 
Published: December 2007

AbstractThe aeruginosins have been isolated from marine sponges and cyanobacterial waterblooms, sources that are phylogenetically distinct and the bodies of water are geographically well‐separated. The aeruginosins comprise a central hydroxy‐ (or dihydroxy‐) octahydroindole carboxamide core unit, onto which are appended unusual amino acids on the carboxy and amino termini as part of the linear peptide array. Potent inhibitory activity of serine proteases in vitro is exhibited by some of the aeruginosins as a result of the presence and proper deployment of three important pharmacophoric subunits: a P1 arginine mimetic, and two hydrophobic residues with interaction sites designated as P2 and P3. In this article, we provide the first comprehensive review on the chemistry and biology of the aeruginosins, with an emphasis on their sources, structural revisions, and total syntheses.
Functional analysis of four Gloverin‐like genes in the silkworm, Bombyx mori
Authors: Kawaoka Shinpei , Katsuma Susumu , Daimon Takaaki , Isono Ryoko , Omuro Naoko , Mita Kazuei , Shimada Toru 
Published: December 2007

AbstractTo identify genes involved in the innate immunity of the silkworm Bombyx mori, we constructed a cDNA library from the fat body of Escherichia coli‐challenged B. mori larvae. Based on the expressed sequence tag (EST) data and whole genome shotgun sequence analysis, we found four Gloverin‐like genes, BmGlov1–4, in the Bombyx genome. Northern blot and RT–PCR analysis showed that BmGlov1–4 were induced in the larval fat body after an immune challenge by the injection of E. coli; however, less induction was observed after the injection of a yeast Candida albicans. In silico sequence analysis revealed the presence of a motif homologous to NF‐κB binding site in the upstream region of each BmGlov gene. Moreover, we expressed recombinant BmGlov1–4 proteins using the baculovirus expression system, and found that all the recombinant BmGlov1–4 significantly inhibited the growth of E. coli. Arch. Insect Biochem. Physiol. 2007. © 2007 Wiley‐Liss, Inc.
Randomized clinical trial of laparoscopic total (Nissen) versus posterior partial (Toupet) fundoplication for gastro-oesophageal reflux disease based on preoperative oesophageal manometry
Authors: Booth M I , Stratford J , Jones L , Dehn T C B 
Published: December 2007

Abstract

Background
Laparoscopic fundoplication is an accepted treatment for symptomatic gastro-oesophageal reflux disease. The aim of this study was to clarify whether total (Nissen) or partial (Toupet) fundoplication is preferable, and whether preoperative oesophageal manometry should be used to determine the degree of fundoplication performed.

Methods
Preoperative oesophageal manometry was used to stratify 127 patients with established gastro-oesophageal reflux disease into effective (75) and ineffective (52) oesophageal motility groups. Patients in each group were randomized to Nissen (64) or Toupet (63) fundoplication.

Results
No significant differences between the operative groups were seen in heartburn, regurgitation or other reflux-related symptoms up to 1 year after surgery. Dysphagia of any degree (27 versus 9 per cent; P = 0·018) and chest pain on eating (22 versus 5 per cent; P = 0·018) were more prevalent at 1 year in the Nissen group. There were no differences in postoperative symptoms between the effective and ineffective motility groups. Surgery failed in eight patients on postoperative pH criteria, three in the Nissen group and five in the Toupet group.

Conclusion
Any differences in the symptomatic outcome of laparoscopic Nissen and Toupet fundoplication appear minimal. There is no reason to tailor the degree of fundoplication to preoperative oesophageal manometry.
Clostridium Neurotoxin Fragments as Potential Targeting Moieties for Liposomal Gene Delivery to the CNS
Authors: Andreu Alice , Fairweather Neil , Miller Andrew D. 
Published: December 2007

AbstractTargeted transfection of the CNS with synthetic, nonviral vectors represents a huge technical challenge. The approach explored here attempts to combine self‐assembly ABCD nanoparticles (Kostarelos and Miller, Chem. Soc. Rev. 2005, 34, 970), with the potential of Clostridium neurotoxin fragments to effect receptor‐mediated transfection of neuronal cells. Cationic liposome–plasmid DNA complexes were first modified with a PEG stealth layer, before the addition of C‐terminal fragments of tetanus toxin (THC), botulinum toxin (BHC) or the truncated C‐terminal domain of THC as biological “targeting” ligands. First‐generation nanoparticles were identified for the transfection of two neuronal cell lines (human SH‐5YSY and rat/mouse hybrid N18‐RE105); control studies were also performed with HeLa cells. ABCD nanoparticle transfections of the neuronal cell lines were up to 30‐fold higher than corresponding control transfections with nanoparticles that lacked the protein ligand. We also demonstrate apparent receptor‐mediated uptake by means of competition‐binding and real‐time confocal experiments. By contrast, nanoparticle transfection of HeLa cells appeared to involve alternative nonspecific enhanced cellular uptake mechanism(s). Receptor‐mediated and nonspecific mechanisms appear to be in competition, potentially harming the capacity of receptor‐mediated delivery to effect proper targeted delivery of nucleic acids to cells ex vivo and in vivo.
ChemInform Abstract: Theoretical Study on the Assembly and Stabilization of a Magic Cluster Al4N‐
Authors: Yang Li‐ming , Ding Yi‐hong , Sun Chia‐chung 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Syntheses and Structures of New Phases AeMxIn4‐x (Ae: Sr, Ba; M: Mg, Zn): Size Effects and Site Preferences in BaAl4‐Type Structures.
Authors: Li Bin , Corbett John D. 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Crystal Structure of Pb2SbS2I3, and Re‐Examination of the Crystal Chemistry within the Group of (Pb/Sn/Sb) Chalcogeno‐Iodides.
Authors: Doussier Charlotte , Moelo Yves , Leone Philippe , Meerschaut Alain , Evain Michel 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Synthesis, Structure, and Unexpected Magnetic Properties of La3Re2O10.
Authors: Cuthbert Heather L. , Greedan John E. , Vargas‐Baca Ignacio , Derakhshan Shahab , Swainson Ian P. 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Organocatalytic Enantioselective Protonation of Silyl Enolates Mediated by Cinchona Alkaloids and a Latent Source of HF.
Authors: Poisson Thomas , Dalla Vincent , Marsais Francis , Dupas Georges , Oudeyer Sylvain , Levacher Vincent 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: MgBr2‐Mediated Ionic Diels—Alder Reaction of Acetals of α,β‐Unsaturated Aldehydes and Ketones with 1,3‐Dienes.
Authors: Chavan Subhash P. , Ethiraj Krishna S. , Dantale Shubhada W. 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.
ChemInform Abstract: Novel Polymer‐Supported Ruthenium and Iron Complexes that Catalyze the Conversion of Epoxides into Diols or Diol Mono‐Ethers: Clean and Recyclable Catalysts.
Authors: Lee Sun Hwa , Lee Eun Yong , Yoo Dong‐Woo , Hong Sung Jin , Lee Jung Hwan , Kwak Han , Lee Young Min , Kim Jinheung , Kim Cheal , Lee Jin‐Kyu 
Published: December 2007

AbstractChemInform is a weekly Abstracting Service, delivering concise information at a glance that was extracted from about 200 leading journals. To access a ChemInform Abstract of an article which was published elsewhere, please select a “Full Text” option. The original article is trackable via the “References” option.