bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epidemiology of Cleft Palate in Europe: Implications for Genetic Research
Authors: Calzolari Elisa , Bianchi Fabrizio , Rubini Michele , Ritvanen Annukka , Neville Amanda J. 
Published: May 2004

Objective To describe the epidemiology of cleft palate (CP) in Europe. Design and Setting A descriptive epidemiological study on 3852 cases of CP, identified (1980 through 1996) from more than 6 million births from the EUROCAT network of 30 registers in 16 European countries. Results Significant differences in prevalence in Europe between registries and within countries were observed. A total of 2112 (54.8%) CP cases occurred as isolated, 694 (18.0%) were associated with other defects such as multiple congenital anomalies, and 1046 (27.2%) were in recognized conditions. The study confirmed the tendency toward female prevalence (sex ratio [SR] = 0.83), particularly among isolated cases (SR = 0.78) even if SR inversion is reported in some registries. A specific association with neural tube defects (NTDs) in some registers is reported. Conclusion The differences identified in Europe (prevalence, sex, associated anomalies) can be only partially explained by methodological reasons because a common methodology was shared among all registries for case ascertainment and collection, and CP is an easy detectable condition with few induced abortions. The complex model of inheritance and the frequently conflicting results in different populations on the role of genes that constitute risk factors suggest the presence of real biological differences. The association of CP/NTD in an area with a high prevalence of NTDs can identify a group of conditions that can be considered etiologically homogeneous. The epidemiological evaluation can guide genetic research to specify the role of etiological factors in each different population
Clinical Findings in Four Brazilian Families Affected by Saethre-Chotzen Syndrome without TWIST Mutations
Authors: Nascimento Sandra R. D. , de Mello Maricilda P. , Batista Juliano C. , Balarin Marly A. S. , Lopes Vera L. Gilda Silva 
Published: May 2004

Objective To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). Methods Four families with 24 patients diagnosed as having features of SCS were studied. Phenotypic characteristics of all patients were inventoried. The investigation protocol included anamnesis, dysmorphological examination, abdominal ultrasound, spine and cranium x-ray, chromosomal analysis on GTG banding, and screening for mutations in the exon 1 of TWIST gene. Results Frequent facial features included brachycephaly (24 of 24), facial asymmetry (20 of 24), prominent ears crus (15 of 24), low-set ears (14 of 24), maxillary hypoplasia (13 of 24), prominent nasal bridge (13 of 24), ptosis of the eyelids (12 of 24), and low-set frontal hairline (12 of 24). Limb abnormalities such as partial hand cutaneous syndactyly (18 of 24), clinodactyly (13 of 24), and broad great toes (13 of 24), and partial cutaneous syndactyly of the feet (9 of 24) were also detected. Among radiological findings were relevant bicoronal (eight of nine) and unicoronal (one of nine) craniosynostosis, digital impressions (eight of nine), bilateral parietal foramina (two of nine), partial fusion 1 and 2 degrees costal arches (two of nine) and bifid spine on lumbar vertebra (two of nine). GTG-banding chromosomal analyses were normal. No TWIST gene mutations were found. Conclusions Affected individuals in these four SCS families may carry mutations in other genes of the same developmental pathway. Considering the complexity of the genes involved in skull-limbs development, an accurate dysmorphological evaluation in patients with SCS and their families is especially important for genetic counseling.
Transverse Craniofacial Features and Their Genetic Predisposition in Families with Nonsyndromic Unilateral Cleft Lip and Palate
Authors: Yoon Young-Jooh , Perkiomaki Marja R. , Tallents Ross H. , Barillas Ingrid , Herrera-Guido Roberto , Fong Chin-To , Kyrkanides Stephanos 
Published: May 2004

Objective The purpose of this study was to evaluate the transverse craniofacial form in families with nonsyndromic cleft lip and palate (NSCLP). It was hypothesized that affected as well as noncleft NSCLP family members are characterized by a common array of craniofacial features that differ from the general population. Design This was a prospective cross-sectional investigation that included affected children with NSCLP and their noncleft parents and siblings. Patients, Participants A total of 114 subjects (14 affected girls, 17 affected girls, 15 unaffected male siblings, 10 unaffected female siblings, 29 unaffected biological mothers, and 29 unaffected biological fathers) were included. Subject records comprised of posteroanterior cephalometric radiographs obtained from all 114 subjects. Main Outcome Measures The width of midfacial structures, including the orbit and nose, was increased in NSCLP families, compared with published norms. Interestingly, the face was disproportionally wider in relation to total facial height. The transverse craniofacial form of children with or without clefts significantly correlated with that of their parents. Mothers displayed strong correlation with their affected and unaffected sons, whereas fathers correlated to their daughters, suggesting a possible sex-linked developmental influence. Conclusion Better understanding of the genetic inheritance of craniofacial features associated with cleft lip and palate may ultimately contribute to the development of cleft risk assessment methods.
Buccinator Sandwich Pushback: A New Technique for Treatment of Secondary Velopharyngeal Incompetence
Authors: Hill C. , Hayden C. , Riaz M. , Leonard A. G. 
Published: May 2004

Objective A small percentage of patients have inadequate velopharyngeal closure, or secondary velopharyngeal incompetence, following primary palatoplasty. Use of the buccinator musculomucosal flap has been described for primary palate repair with lengthening, but its use in secondary palate lengthening for the correction of insufficient velopharyngeal closure has not been described. This study presents the results of a series of patients who had correction of secondary velopharyngeal incompetence using bilateral buccinator musculomucosal flaps used as a sandwich. Patients In this prospective study between 1995 and 1998, a group of 16 patients with insufficient velopharyngeal closure as determined by speech assessment and videoradiography were selected. Nasopharyngoscopy was carried out in addition in a number of cases. Case selection was a result of these investigations and clinical examination in which the major factor in velopharyngeal insufficiency was determined to be short palatal length. Design The patients underwent palate lengthening using bilateral buccinator musculomucosal flaps as a sandwich. All patients were assessed 6 months postoperatively. The operative technique, postoperative course, and recorded postoperative complications including partial/total flap necrosis and residual velopharyngeal insufficiency were evaluated. Preoperative and postoperative speech samples were rated by an independent speech therapist. Results Ninety-three percent (15 of 16) had a significant improvement in velopharyngeal insufficiency, and 14 patients had no hypernasality postoperatively. Both cases of persistent mild hypernasality had had a recognized postoperative complication. Conclusion The sandwich pushback technique for the correction of persistent velopharyngeal incompetence was successful in achieving good speech results.
A Review of Feeding Interventions for Infants with Cleft Palate
Authors: Reid Julie 
Published: May 2004

Objective A literature review was conducted to identify feeding interventions recommended for infants with cleft conditions. Selected articles were critically appraised using an evidence-based practice framework to determine the strength of the evidence underpinning each intervention. Design Electronic databases were searched for reports of cleft palate feeding interventions. The selected articles were coded as being data driven or not; those containing data were then critically appraised using a recognized evidence hierarchy. Finally, each report was ascribed a level of evidence (from I to IV), depending on the quality of data presented. Results Fifty-five articles published between 1955 and 2002 were reviewed. There are currently no completed systematic reviews relevant to this body of literature (level I evidence). Two well-designed randomized controlled trials (level II evidence) were found. These were considered to provide the strongest evidence for feeding intervention techniques. These articles described a combination of interventions, including early feeding and nutrition education, as well as assisted feeding methods for infants with isolated cleft conditions. Three examples of level III.3 evidence were also found. Fifty (91%) of 55 articles reviewed were non–data-driven reports of expert opinion (level IV). Conclusions A paucity of evidence rated as either moderate or strong prevailed, underscoring the need for ongoing scientific evaluation of feeding interventions used with infants who have cleft palate. A number of factors, including the heterogeneity of samples studied, lack of replication of trials, and small sample sizes, affected the type and strength of evidence underpinning specific feeding interventions.
Non‐linear and non‐constant variance calibration curves in analysis of volatile organic compounds for testing of water by the purge‐and‐trap method coupled with gas chromatography/mass spectrometry
Authors: Lavagnini Irma , Favaro Gabriella , Magno Franco 
Published: May 2004

AbstractCurrently used operating conditions for analysing volatile organic compounds (VOCs) by purge‐and‐trap gas chromatography/mass spectrometry (GC/MS) produced non‐linear calibration curves with non‐uniform variance. Second‐order polynomial models therefore had to be used in weighted regression analysis of measurements of replicates spiked at various concentrations. A transparent procedure based on a reported method of very low computational complexity allowed calculation of the parameters of second‐order models, confidence bands of regression lines, prediction bands, and confidence intervals of discriminated analyte concentrations. Tolerance intervals were introduced for this last purpose. Critical, detection and quantification levels drawn from the calibration curves were compared with those calculated by the EPA method. Copyright © 2004 John Wiley & Sons, Ltd.
Differential organ‐specific response to salt stress and water deficit in nodulated bean (Phaseolus vulgaris)
Authors: VERDOY D. , LUCAS M. M. , MANRIQUE E. , COVARRUBIAS A. A. , DE FELIPE M. R. , PUEYO J. J. 
Published: May 2004

ABSTRACTNodulated bean plants were exposed to mild salt stress or water deficit in such a way that the nodule's nitrogen‐fixing activity was reduced to about 25–30% that of controls. Water‐deprived plants showed a slight decrease in the weight of the aerial part, whereas the photosynthetic parameters were not significantly affected. In contrast, salt‐stressed plants displayed a reversible decrease in the quantum yield of photosystem II photochemistry. Five water‐deficit responsive cDNA clones encoding one lipid transfer protein, two late‐embryogenesis abundant (LEA) proteins and two proline‐rich proteins (PRPs) showed different organ‐specific expression patterns depending on the kind of stress applied. PRPs and one LEA protein, PvLEA‐18, exhibited the highest expression in nodules. Anti‐PvLEA‐18 antibodies were used to immunolocalize the protein in the nodule. PvLEA‐18 was localized in the cytoplasm and nucleus of nodule cortex cells, and preferentially in cells of the vascular bundles, showing enhanced accumulation under water deficit. To our knowledge, this is the first time that a LEA protein has been identified in legume nodules.
Phase 2, Randomized, Dose-Ranging Study Evaluating the Safety and Efficacy of Anidulafungin in Invasive Candidiasis and Candidemia
Authors: Krause David S. , Reinhardt John , Vazquez Jose A. , Reboli Annette , Goldstein Beth P. , Wible Michele , Henkel Timothy 
Published: May 2004

ABSTRACT

This study evaluated the safety and efficacy of anidulafungin, a novel echinocandin, in patients with invasive candidiasis, including candidemia. A total of 123 eligible patients were randomized to one of three intravenous regimens, 50, 75, or 100 mg once daily. Treatment continued for 2 weeks beyond resolution or improvement of signs and symptoms. The primary efficacy criterion was a successful global response rate (i.e., clinical and microbiological success) in the evaluable population at the follow-up (FU) visit, 2 weeks after end of therapy (EOT). One hundred twenty (120) patients received at least one dose of anidulafungin; 68 were evaluable. Review of adverse events and laboratory data indicated no dose response for safety parameters. Non-
albicans Candida
species accounted for approximately one-half of all isolates. Success rates at EOT were 84, 90, and 89% in the 50-, 75-, and 100-mg groups, respectively. At FU, the success rates were 72, 85, and 83%. Phase 3 studies of anidulafungin for the treatment of invasive candidiasis and candidemia are warranted.
Interaction of Antimycobacterial Drugs with the Anti-Mycobacterium aviumComplex Effects of Antimicrobial Effectors, Reactive Oxygen Intermediates, Reactive Nitrogen Intermediates, and Free Fatty Acids Produced by Macrophages
Authors: Sano Keisuke , Tomioka Haruaki , Sato Katsumasa , Sano Chiaki , Kawauchi Hideyuki , Cai Shanshan , Shimizu Toshiaki 
Published: May 2004

ABSTRACTThe profiles of the interaction of antimycobacterial drugs with macrophage (MΦ) antimicrobial mechanisms have yet to be elucidated in detail. We examined the effects of various antimycobacterial drugs on the anti-Mycobacterium aviumcomplex (MAC) antimicrobial activity of reactive oxygen intermediates (ROIs), especially of an H2O2-halogen (H2O2-Fe2+-NaI)-mediated bactericidal system, reactive nitrogen intermediates (RNIs), and free fatty acids (FFAs), which are known as central antimicrobial effectors of host MΦs against mycobacterial pathogens. We have found that certain drugs, such as rifampin (RIF), rifabutin (RFB), isoniazid (INH), clofazimine (CLO), and some fluoroquinolones, strongly or moderately reduced the anti-MAC activity of the H2O2-Fe2+-NaI system, primarily by inhibiting the generation of hypohalite ions and in part by interfering with the halogenation reaction of bacterial cell components due to the H2O2-Fe2+-NaI system. This phenomenon is specific to the H2O2-Fe2+-NaI system, since these drugs did not reduce the anti-MAC activity of RNIs and FFAs. From the perspective of the chemotherapy of MAC infections, the present findings indicate an important possibility that certain antimycobacterial drugs, such as rifamycins (RIF and RFB), INH, CLO, and also some types of fluoroquinolones, may interfere with the ROI-mediated antimicrobial mechanisms of host MΦs against intracellular MAC organisms.
Subjective functional assessments and the return to competitive sport after anterior cruciate ligament reconstruction
Authors: Smith F W , Rosenlund E A , Aune A K , MacLean J A , Hillis S W 
Published: May 2004

Objectives:To examine (a) return to competitive sport within 12 months of anterior cruciate ligament (ACL) reconstruction, (b) maintenance of competitive participation at follow up, and (c) the relation of the level of sports activity and competitive participation at follow up to subjective functional assessments. Also to address the incidence of continued competitive participation despite notable functional problems with the operated knee at 12 months and follow up.Methods:All patients were competitive athletes before injury and had undergone ACL reconstruction by the transtibial endoscopic technique with either a bone-patellar tendon-bone or a multiple looped hamstring autograft. Evaluation was carried out a mean of 43 months (range 24–73) after surgery by a postal questionnaire in which the Cincinnati sports activity scale (CSAS) and Cincinnati sports function scales were presented in conjunction with closed questions on change in competitive level and the presence of complaints.Results:Of 109 selected patients, 77 (71%) responded. At follow up, 62 of 77 patients (81%) reported that they had returned to competition within 12 months of surgery. Within the same time frame, 55 of the above 62 patients (89%) also claimed to have returned to the level at which they were competing before injury (or higher). At follow up, 30 of the above 55 patients (54%) reported to still be competing at this high level. Twelve of the above 55 patients (22%) also admitted to major problems with the operated knee at that time. The overall incidence of patients competing despite major functional impairment in the operated knee was 13 of 62 (21%) at 12 months and six of 47 (13%) at follow up. Thirty eight patients (49%) were active in sport at least four times a week at follow up (CSAS level 1), and, using Spearman’s rank correlation between CSAS scores and total sports function scores,rwas calculated to be 0.44. Competitive and male patients had higher total sports function scores at follow up than non-competitive (p  =  0.005) and female (p  =  0.02) patients respectively.Conclusions:The reported return to competition at the previous level, both within 12 months and at follow up, was high but as expected considering the standard of treatment, patient selection, and study exclusion criteria. Patients with few functional complaints maintained a high level of sporting activity, even after discontinuing competitive participation.
Use of statins prior to percutaneous coronary intervention reduces myonecrosis and improves clinical outcome
Authors: Chang Su Min , Yazbek Naji , Lakkis Nasser M. 
Published: May 2004

AbstractPrimary and secondary prevention with statins reduce major cardiac events in patients with coronary artery disease. The impact of pretreatment with statins prior to percutaneous coronary intervention (PCI) is not well established. The objective of this study was to determine if pretreatment with statins prior to PCI reduce myonecrosis and improve clinical outcome. One hundred nineteen consecutive patients with acute coronary syndrome who underwent PCI were identified. We compared the incidence of myonecrosis defined as peak elevation of CK‐MB or CK three time above upper limit of normal within 24 hr and the 6‐month cardiovascular event rate (death, nonfatal myocardial infarction unrelated to PCI, target vessels revascularization, and unstable angina requiring hospitalization) among patients who received statins prior to PCI (n = 63) to those who did not (n = 56). Pretreated patients were more likely to have history of myocardial infarction or revascularization (63% vs. 43%; P = 0.015), hyperlipidemia (80% vs. 48%; P = 0.001), hypertension (83% vs. 49%; P = 0.02), and use of angiotensin‐converting enzyme inhibitor (62% vs. 38%; P = 0.008). The rest of baseline characteristics were similar between the two groups, including use of glycoprotein IIb/IIIa inhibitors, number of diseased vessels, and type of lesions. Patients pretreated with statins had a significantly lower incidence of myonecrosis (2% vs. 10%; P = 0.04) at 24 hr and a significantly lower clinical event (CE) rate at 6 months (17% vs. 21%; P = 0.015). Of patients not pretreated with statins, 72% were taking statins at 6 months as compared to 98% of pretreated patients. After adjusting for all baseline characteristics, use of statins prior to PCI was associated with a marked decrease in risk of all CEs (OR = 0.2; CI = 0.06–0.63; P = 0.006). Statin therapy prior to PCI may reduces peri‐PCI myonecrosis and late cardiac events. These results need to be confirmed in large prospective randomized trials. Catheter Cardiovasc Interv 2004;62:193–197. © 2004 Wiley‐Liss, Inc.
Spontaneous crystallization of potassium chloride from aqueous and aqueous‐ethanol solutions Part 2: Mechanism of aggregation and coalescence of crystals
Authors: Linnikov Oleg D. 
Published: May 2004

AbstractPublished data on aggregation kinetics of potassium chloride crystals at its spontaneous crystallization from supersaturated aqueous and aqueous‐ethanol solutions were analysed. It was found that the crystals coalesced through contact nucleus‐bridges according to the mechanism proposed by Polak. The kinetics of aggregation were described by the Smoluchowski equation for coagulation of colloidal particles. The kinetic coefficient of aggregation process depended on supersaturation, temperature of solution and other characteristics of system. The specific surface energy of potassium chloride 0.98 mJ/m2 was found. (© 2004 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
No‐carrier added synthesis of 18F‐labelled nucleosides using Stille cross‐coupling reactions with 4‐[18F]fluoroiodobenzene
Authors: Wüst Frank R. , Kniess Torsten 
Published: May 2004

AbstractThe radiosyntheses of 5‐(4′‐[18F]fluorophenyl)‐uridine [18F]‐11 and 5‐(4′‐[18F]fluorophenyl)‐2′‐deoxy‐uridine [18F]‐12 are described. The 5‐(4′‐[18F]fluoro‐phenyl)‐substituted nucleosides were prepared via a Stille cross‐coupling reaction with 4‐[18F]fluoroiodobenzene followed by basic hydrolysis using 1 M potassium hy‐droxide. The Stille cross‐coupling reaction was optimized by screening various palladium complexes, additives and solvents. By using optimized labelling conditions (Pd2(dba)3/CuI/AsPh3 in DMF/dioxane (1:1), 20 min at 65°C), 550 MBq of [4‐18F]fluoroiodobenzene could be converted into 120 MBq (33%, decay‐corrected) of 5‐(4′‐[18F]fluorophenyl)‐2′‐deoxy‐uridine [18F]‐12 within 40 min, including HPLC purification. Copyright © 2004 John Wiley & Sons, Ltd.
Radiosynthesis of 3‐[18F]fluoropropyl and 4‐[18F]fluorobenzyl triarylphosphonium ions
Authors: Ravert Hayden T. , Madar Igal , Dannals Robert F. 
Published: May 2004

Abstract3‐[18F]Fluoropropyl‐, 4‐[18F]fluorobenzyl‐triphenylphosphonium and 4‐[18F]fluorobenzyltris‐4‐dimethylaminophenylphosphonium cations were synthesized in multi‐step reactions from no carrier added (nca) [18F]fluoride. The time for synthesis, purification, and formulation was 56, 82, and 79 min with an average radiochemical yield of 12, 6 and 15%, respectively (not corrected for decay). The average specific radioactivity for the three radiolabeled compounds was 14.9 GB q/µmole (403 mCi/µmole) at end of synthesis (EOS). Copyright © 2004 John Wiley & Sons, Ltd.