bluuebunny/crossref_metadata_2025_split huggingface dataset:
Q289P Mutation in FGFR2 Gene Causes Saethre-Chotzen Syndrome: Some Considerations About Familial Heterogeneity
Authors: de Freitas Érika Cristina Lopes Burrone , Nascimento Sandra Regina Dantas , de Mello Maricilda Palandi , Gil-da-Silva-Lopes Vera Lúcia 
Published: March 2006

Objective To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. Design Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chain reaction-amplified coding region of TWIST and screening for the P250R mutation in the FGFR3 gene were performed. Exons IIIa and IIIc of FGFR2 were sequenced also. The mutation was confirmed by both restriction-enzyme digestion and allelic-specific polymerase chain reaction. Results Neither TWIST gene analysis nor analysis of the P250R mutation on gene FGFR3 showed mutation within the coding sequence. A nucleotide change from CAG to CCG in exon IIIa of the FGFR2 gene that caused a Q289P mutation was detected, although exon IIIc in the propositus was normal. These same results were detected in his mother, but no other members of the kindred presented clinical features consistent with Saethre-Chotzen syndrome. Conclusions This mutation was previously reported in individuals with Crouzon and Jackson-Weiss syndromes. The FGFR2 mutation in the family with Saethre-Chotzen syndrome herein reported reinforces the idea of an interaction among TWIST and FGFR genes during development. Absence of the Q289P mutation in some affected individuals in this family is discussed.
Three-Dimensional Computed Tomography Cephalometry of Plagiocephaly: Asymmetry and Shape Analysis
Authors: Netherway D. J. , Abbott A. H. , Gulamhuseinwala N. , McGlaughlin K. L. , Anderson P. J. , Townsend G. C. , David D. J. 
Published: March 2006

Objective To investigate facial asymmetry associated with both deformational and synostotic plagiocephaly and to identify variables based on skeletal landmarks that distinguish the conditions and quantify severity. Design Retrospective, cross sectional. Setting Australian Craniofacial Unit, Adelaide. Main Outcome Measures Proportional differences between bilateral distances and principal component (PC) analysis of the skeletal landmarks. Patients The three-dimensional positions of 78 osseous landmarks were determined from computed tomography (CT) scans of 21 patients with deformational plagiocephaly (DP), 20 patients with unilateral coronal synostosis (UCS), and 2 patients with unilateral lambdoid synostosis (ULS). Results For both DP and UCS, significant asymmetry was found for the orbital depths, mandibular lengths, maxillary depths, zygomatic arch lengths, lateral base of the parietal bone, and the angle between the anterior and the posterior cranial base projected onto the axial plane. The small sample size for ULS precluded definitive statistical statements but allowed some useful comparisons with the other conditions. The first three PC scores were able to distinguish among the three conditions and which side was affected. Conclusions The asymmetry of the cranial base and facial structures, arising from localized abnormality or deformational forces in either the frontal or the occipital regions, can be quantified by a plethora of bilateral features or summarized by PC analysis.
The Genetic Basis of the Pierre Robin Sequence
Authors: Jakobsen Linda P. , Knudsen Mary A. , Lespinasse James , García Ayuso Carmen , Ramos Carmen , Fryns Jean-Pierre , Bugge Merete , Tommerup Niels 
Published: March 2006

Objective The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS. Design After searching Medline for “pierre robin and genetics,” the Mendelian Cytogenetics Network database for “robin” and “pierre robin,” and two reviews from the Human Cytogenetics Database for “cleft palate” and “micrognathia,” a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes. Results The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance. Conclusion Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.
Regional Anesthesia for Cleft Lip Repair: A Preliminary Study
Authors: Eipe Naveen , Choudhrie Ashish , Pillai A. Dildeep , Choudhrie Rajiv 
Published: March 2006

Objective To assess whether local anesthetic blockade of the infraorbital nerve may allow for cleft lip repair to be performed under regional anesthesia. Method Twenty patients above 12 years of age with cleft lip (7 females and 13 males) were enrolled. Careful preoperative counseling was given. Bilateral infraorbital block was performed (extraoral approach) with 10 mL of equal volumes of 2% lidocaine with 1:200,000 adrenaline and 0.5% bupivacaine. The point of entry was the intersection of a vertical line through the pupil of the eye (in the neutral position) and a horizontal line through the ala of the nose. The needle was directed medially and cephalad until the infraorbital foramina was reached and 2 mL was injected. Through the same point of entry, but directed medially (toward the ala), 1 mL was injected followed by a 2-mL injection caudally and medially (into the lip). Results The block was successful in all patients without complication. The surgery was uneventful, lasting between 45 and 60 minutes. The postoperative duration of analgesia was between 6 and 24 hours (mean 16.5 ± 5.10 SD). Conclusions The nerve supply of the cleft lip, our modification of the block, and possible problems with this technique are discussed. This study confirms the utility of this block for postoperative analgesia. Further studies are required to apply this innovative, safe, and economical modification of anesthesia for cleft lip surgery.
Phonetic Description of Babbling in Danish Toddlers Born with and without Unilateral Cleft Lip and Palate
Authors: Willadsen Elisabeth , Albrechtsen Helle 
Published: March 2006

Objective To investigate prelinguistic vocalization sequences of 1-year-old children with and without cleft lip and palate. Design Prospective study. Participants Thirty-eight children born with unilateral cleft lip and palate and 36 control children born without clefts. The cleft children had the lip, soft palate, and posterior part of the hard palate repaired at 4 months of age. The lip was closed ad modum Millard, the nose was corrected according to McComb, and the soft palate was closed with a posteriorly based vomer flap. Methods Data were obtained from a clinical visit during which the baby played with the mother. Video recordings were transcribed and analyzed concerning (1) the frequency of occurrence of vocalization sequences, (2) the frequency of occurrence of contoids and vocoids, (3) the contoids’ place and manner of articulation, and (4) the percentage of children who entered the canonical babbling stage. Results No significant differences were observed between the cleft and control groups concerning frequency of occurrence of vocalization sequences, contoids, or vocoids. Structural differences between the groups seem to influence the contoid inventory, with a higher frequency of occurrence of nasal contoids and a smaller frequency of occurrence of alveolar contoids in the cleft group. Canonical babbling was achieved by most children in both groups, and no significant difference was found between the groups. Conclusions Early closure of the soft palate seems to have a positive influence on the prelinguistic development of children with cleft palate.
Voltammetric Studies and Determination of Levodopa and Carbidopa in Pharmaceutical Products
Authors: Quintino Maria Socorro Maia , Yamashita Miyuki , Angnes Lúcio 
Published: March 2006

AbstractIn this paper, the possibility of analyzing levodopa and carbidopa by differential pulse voltammetry (DPV) utilizing a glassy carbon electrode in 0.1 mol L−1 HClO4 is reported. Cyclic voltammograms of levodopa show a redox couple with anodic and cathodic peak potentials at 0.58 V and 0.52 V (vs. Ag/AgCl), respectively. For carbidopa, there are two oxidation waves with maximum currents at 0.53 V and 1.02 V, without any cathodic counterpart at slow enough scan rate. Since in such conditions, the oxidation product of carbidopa does not undergo reduction, it is possible to analyze levodopa without interference. On the other hand, carbidopa can be determined between 0.85 V and 1.1 V in the presence of levodopa, coating the electrode with a Nafion film, which is selective for carbidopa. The developed methodology was applied to two different commercial samples of pharmaceutical products. The obtained data were compared with the results of the analysis by high performance liquid chromatography (HPLC) with UV detection, showing good correlation (relative errors changing between 0.4% and 3.5%) and absence of interference of the other components that accompanied the pharmaceuticals.
Acetalization and thioacetalization of cabonyl compounds: A case study based on global and local electrophilicity descriptors
Authors: Roy Ram Kinkar , Usha V. , Patel Bhisma K. , Hirao Kimihiko 
Published: March 2006

AbstractAcetalization of benzaldehyde and substituted benzaldehydes (containing both electron‐donating and electron‐withdrawing groups) is explained qualitatively on the basis of global electrophilicity descriptor, w, as proposed by Parr and coworkers (J Am Chem Soc 1999, 121, 1922). The generated values of w can explain qualitatively the preferential electrophilic addition, and hence, the yield of acetalization obtained in an earlier experimental study carried by Patel and coworkers (J Org Chem 2002, 67, 5842). The present study also reveals that although both steric and electronic factors affect the yield, only later can be taken care of by w. In the case of a competitive formation of cyclic acetals and cyclic thioacetals from a reaction mixture containing p‐hydroxybenzaldehyde, p‐nitrobenzaldehyde, 1,2‐ethanediol (i.e., glycol), and 1,2‐ethanedithiol, the relative experimental yields (Org Biomol Chem 2004, 2, 1670) could be explained from the difference of the global electrophilicity values between aldehydes and acetalizing agents in the same line of arguments of Maynard et al. (Proc Natl Acad Sci USA 1998, 95, 11578). © 2006 Wiley Periodicals, Inc. J Comput Chem 27: 773–780, 2006
Caspase‐dependent cleavage of 170‐kDa P‐glycoprotein during apoptosis of human T‐lymphoblastoid CEM cells
Authors: Mantovani Irina , Cappellini Alessandra , Tazzari Pier Luigi , Papa Veronica , Cocco Lucio , Martelli Alberto M. 
Published: March 2006

AbstractMultidrug resistance (MDR) mediated by the drug efflux protein, 170‐kDa P‐glycoprotein (P‐gp), is one mechanism that tumor cells use to escape cell death induced by chemotherapeutic drugs. Moreover, evidence suggests that cell lines expressing high levels of 170‐kDa P‐gp are less sensitive to caspase‐mediated apoptosis induced by a wide range of death stimuli, including Fas ligand, tumor necrosis factor, and ultraviolet irradiation. However, the fate of 170‐kDa P‐gp during apoptosis is unknown. In this study, we demonstrate for the first time that 170‐kDa P‐gp is cleaved during apoptosis of VBL100 human T‐lymphoblastoid CEM cells. Apoptotic cell death was induced by LY294002 (a pharmacological inhibitor of the phosphoinositide 3‐kinase/Akt survival pathway), H2O2, and Z‐LEHD‐FMK (a caspase‐9 inhibitor which has been recently reported to induce apoptosis in CEM cells). Using an antibody to a common epitope present in both the third and the sixth extracellular loop of P‐gp, two cleavage products were detected, with an apparent molecular weight of 80 and 85 kDa. DEVD‐FMK (a caspase‐3 inhibitor), but not VEID‐CHO (a caspase‐6 inhibitor), blocked 170‐kDa P‐gp cleavage. Recombinant caspase‐3 was able to cleave in vitro 170‐kDa P‐gp yielding two fragments of equal size to those generated in vivo. Considering the size of the cleaved fragments and their reactivity with antibodies, which recognize either the N‐half or the C‐half region of the protein, it is conceivable that the cleavage occurs intracytoplasmically. Since 170‐kDa P‐gp has been reported to counteract apoptosis, its cleavage may be a mechanism aimed at blocking an important cell survival component. J. Cell. Physiol. © 2006 Wiley‐Liss, Inc.
Mutational analysis of the cell cycle inhibitor Kip1/p27 in childhood leukemia
Authors: Markaki E.‐A. , Stiakaki E. , Zafiropoulos A. , Arvanitis D.A. , Katzilakis N. , Dimitriou H. , Spandidos D.A. , Kalmanti M. 
Published: March 2006

AbstractBackgroundCyclin‐dependent kinases (CDKs) and cyclins, their regulatory subunits, govern cell‐cycle progression in eukaryotic cells. Kip1/p27 is the main cyclin‐dependent kinase inhibitor, which arrests cell division inhibiting G1–S transition. Kip1/p27 seems to play a critical role in the pathogenesis of several human malignancies and its lower expression has been shown to correlate with a poor prognosis in adult solid tumors.MethodsBone marrow blasts from 49 children with leukemia, 37 acute lymphoblastic leukemia (ALL), and 12 acute myeloid leukemia (AML) were studied. Exon 3 of Kip1/p27 was amplified using the polymerase chain reaction technique (PCR). Single strand conformational polymorphism and heterodouplex analysis were performed to detect DNA sequence with altered conformations and were subsequently sequenced to document mutations.ResultsMutations in Kip1/p27 gene were detected in 2 out of 3 T‐ALL, 6 out of 12 AML patients, and only 1 out of 34 B lineage ALL cases. Although the patient groups are small, a highly significant relation of the mutation status with the type of leukemia (P = 0.0037) and the risk group according to treatment protocols (P = 0.00021) was estimated. A statistically significant difference in the white blood count was observed (P = 0.019) between the mutated and non‐mutated patient groups although no statistically significant association of the mutation status with the hemoglobin and platelets values, karyotype, age, sex, disease progression, and outcome was determined.ConclusionsBased upon these results, the Kip1/p27 mutations should be considered for further prospective testing as an additional parameter for risk stratification and treatment of childhood leukemia. Pediatr Blood Cancer © 2006 Wiley‐Liss, Inc.
Leydig cell tumor after treatment for Ewing's sarcoma
Authors: Butros Linda J. , Phillip Shaji , Chou Alexander , Meyers Paul A. , Huvos Andrew G. , Healey John H. , Russo Paul , Gorlick Richard G. 
Published: March 2006

AbstractLeydig cell tumors account for 3% of testicular tumors and have never been reported after treatment for Ewing's sarcoma. We report the unusual occurrence of a patient who developed a Leydig cell tumor of the testis 18 years after successful treatment for Ewing's sarcoma. Additional monitoring for second malignancies may become appropriate as long‐term survival continues to improve for patients with Ewing's sarcoma. Pediatr Blood Cancer 2007;49:1008–1010. © 2006 Wiley‐Liss, Inc.
Polymerization compounding of HDPE/Kevlar composites. I. Morphology and mechanical properties
Authors: Rajabian Mahmoud , Dubois Charles 
Published: March 2006

AbstractThe aim of this work is to perform the polymerization compounding to improve the properties of Kevlar/PE composites. The approach consists in involving the surface of a reinforcement in a polymerization process of a polymer to be used either as a matrix in the final composite or as a special surface treatment to enhance solid/polymer interface properties in the composite. The polymerization compounding process is illustrated here with the polyaramid fibers as reinforcements and polyethylene as a matrix. The number of active sites on the fiber surface, initially insufficient to anchor the catalyst, were increased by a hydrolysis reaction prior to the polymerization. The anchored catalyst was subsequently used to conduct the Ziegler–Natta polymerization reaction of ethylene. The modified fibers were incorporated into the polyethylene resin to produce composites at fiber concentrations as high as 15 wt%. The morphology of the fibers and the composites was tested using electron microscopy. Finally, the mechanical properties of the composites (in impact and tensile tests) were measured to characterize the properties of model composites. Polym. Compos. 27:129–137, 2006. © 2006 Society of Plastics Engineers.
The Human Liver Proteome Project (HLPP) Workshop during the 4th HUPO World Congress
Authors: Zheng Junjie , Gao Xue , Beretta Laura , He Fuchu 
Published: March 2006

AbstractThe Human Liver Proteome Project (HLPP) is the first initiative of the Human Proteome Organisation (HUPO) to target a human organ/tissue and aims at the establishment of a biological atlas of the liver to advance our understanding of liver functions and to provide the tools to develop new diagnostics and therapeutics for liver diseases. The major achievements of HLPP during its pilot phase (2003–2005) were presented during a one‐day workshop held on August 27, 2005, immediately prior to the 4th HUPO World Congress in Munich, Germany. These include (i) the participation of a large number of laboratories worldwide and the initiation of international research collaborations; (ii) the establishment of a management infrastructure and (iii) the development of standard operating procedures and the generation and collection of a first set of expression profile data. A summary of the workshop was subsequently presented by Professor Fuchu He, the Chair of this initiative, during the HUPO 4th Annual World Congress.
Perfluorous Solid‐Phase Organic Synthesis (PF‐SPOS) and IRORI Technology for Combinatorial Chemistry
Authors: Ortega Alberto , Erra Montserrat , Navarro Eloísa , Roberts Richard S. , Fernández‐Forner Dolors 
Published: March 2006

AbstractThe use of perfluorous solvents in combination with IRORI technology and its application for the synthesis of combinatorial libraries is described. This methodology shows a clear advantage over standard solid‐phase synthesis in IRORI MiniKans, because the large amounts of reagents and solvents required for IRORI can be substantially reduced. Herein we report a comparative study for the synthesis of some dihydroquinazolines and quinazolinones derivatives, using standard SPOS conditions and perfluorous solvent conditions (PF‐SPOS) in IRORI reactors. Yields of products were normally greater with perfluorous solvents than those observed with standard SPOS conditions. The results obtained by the use of this convenient strategy for the solid‐phase preparation of a 384‐membered library of dihydroquinazolines and quinazolinones are also shown
Clinical profile, contemporary management and one‐year mortality in patients with severe acute heart failure syndromes: The EFICA study☆
Authors: Zannad Faiez , Mebazaa Alexandre , Juillière Yves , Cohen‐Solal Alain , Guize Louis , Alla François , Rougé Pierre , Blin Patrick , Barlet Marie‐Hélène , Paolozzi Laurence , Vincent Catherine , Desnos Michel , Samii Kamran ,   for the EFICA Investigators
Published: March 2006

AbstractBackground:Little is known about the epidemiology of acute decompensated heart failure (ADHF) in patients admitted to intensive and coronary care units (ICU/CCU). Observational data may improve disease management and guide the design of clinical trials.Aims:EFICA is an observational study of the clinical profile, management and survival of ADHF patients admitted to ICU/CCU.Methods:The study included 599 patients admitted to 60 ICU/CCUs across France. Relevant data was recorded during hospitalisation. Survival was assessed at 4 weeks and 1 year.Results:The main cause of ADHF was ischaemic heart disease (61%); 29% of patients had cardiogenic shock. Mortality was 27.4% at 4 weeks and 46.5% at 1 year, increasing to 43.2% and 62.5%, respectively, when including pre‐admission deaths. Shock patients had the highest [57.8% vs. 15.2% without shock (p<0.001)] and patients with hypertension and pulmonary oedema had the lowest 4‐week mortality: (7%). Pre‐admission NYHA class III–IV heart failure, not initial clinical presentation, influenced 1‐year mortality.Conclusion:ADHF is a heterogeneous syndrome. Based on initial clinical presentation, three entities with distinct features and outcome may be described: cardiogenic shock, pulmonary oedema with hypertension, and ‘decompensated’ chronic heart failure. This should be taken into account in future observational studies, guidelines and clinical trials.
Familial inflammatory dilated cardiomyopathy
Authors: Portig Irene , Wilke Andreas , Freyland Matthias , Wolf Markus‐Joachim , Richter Anette , Ruppert Volker , Pankuweit Sabine , Maisch Bernhard 
Published: March 2006

AbstractBackgroundSystematic family screening has recently identified dilated cardiomyopathy as an inherited disorder in up to 30% of cases. Mutations in genes encoding proteins responsible for myocardial architecture have been identified, but additional pathophysiological mechanisms including inflammatory reactions have been proposed.AimsIdentification and characterization of familial DCM, where at least one affected family member fulfils the criteria for inflammatory DCM may lead to a better understanding of the aetiology and pathogenesis of (inflammatory) DCM.Methods and resultsTen families were examined. In six families, clinical characteristics and mode of inheritance were compatible with pure fDCM, fDCM with conduction defect and autosomal recessive fDCM. In four families, (auto‐)immune features were diagnosed in affected and non‐affected family members.ConclusionsFamilial DCM with an inflammatory component was identified as a specific subgroup of familial DCM. In most cases, the inflammatory process seems to modify, i.e. aggravate, the “classic, cytoskeletopathic” familial DCM, but in some, especially when taking clinical and genetic aspects into account, inflammatory (auto‐)immune features can be addressed as the leading pathogenetic principle. Further elucidation of these families may provide a better insight into pathophysiologic processes and may aid in the development of specific therapeutic strategies.
Adult attachment variables predict depression before and after treatment for chronic pain
Authors: Meredith Pamela J. , Strong Jenny , Feeney Judith A. 
Published: March 2006

AbstractThe complex relationship between chronic pain and depression has long been of clinical and empirical interest. Although attachment theory has been described as a “theory of affect regulation”, and has been lauded as a developmental framework for chronic pain, surprisingly little research specifically considers the links between adult attachment variables and pain‐related depression. A sample of 99 participants with chronic pain of non‐cancer origin was evaluated before and after pain rehabilitation. Results demonstrated that two attachment dimensions (comfort with closeness and relationship anxiety) were related to pre‐ and post‐treatment depression. Of particular interest was the finding that comfort with closeness was the unique predictor of lower levels of post‐treatment depression, usurping pain intensity and pre‐treatment depression. These results are discussed in terms of clinical implications, and suggest that adult attachment theory may prove a valuable perspective in pain treatment programs.