bluuebunny/crossref_metadata_2025_split huggingface dataset:
Matthew‐Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2
Authors: Martinovic‐Bouriel Jelena , Bernabé‐Dupont Céline , Golzio Christelle , Grattagliano‐Bessières Bettina , Malan Valérie , Bonnière Maryse , Esculpavit Chantal , Fallet‐Bianco Catherine , Mirlesse Véronique , Le Bidois Jerôme , Aubry Marie‐Cécile , Vekemans Michel , Morichon Nicole , Etchevers Heather , Attié‐Bitach Tania , Encha‐Razavi Féréchté , Benachi Alexandra 
Published: January 2007

AbstractWe describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew‐Wood syndrome (MWS; MIM 601186) or by the acronym “PMD” (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre‐ and perinatal diagnoses of Matthew‐Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand‐receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations. © 2007 Wiley‐Liss, Inc.
Pharmacokinetics of 5‐fluorouracil in mutant Nagase analbuminemic rats: faster metabolism of 5‐fluorouracil via CYP1A
Authors: Choi Young H. , Bae Soo K. , Kim Sun O. , Lee Myung G. 
Published: January 2007

AbstractIt has been reported that plasma albumin concentrations were significantly lower in cancer patients than those in the healthy volunteers, and the expression and mRNA level of hepatic microsomal cytochrome P450 (CYP) 1A2 increased in mutant Nagase analbuminemic rats (NARs). After intravenous administration of 5‐fluorouracil at a dose of 30 mg/kg to NARs, the time‐averaged nonrenal clearance (Clnr) of the drug was significantly faster than the controls (51.3 versus 28.8 ml/min/kg), possibly due to an increase in the expression and mRNA level of CYP1A2 in NARs. In order to determine whether 5‐fluorouracil is metabolized via CYP1A2 in male Sprague–Dawley rats, the rats were pretreated with 3‐methylcholanthrene (a main inducer of CYP1A1/2 in rats). TheClnrof 5‐fluorouracil was significantly faster (34.3 versus 27.3 ml/min/kg) in rats pretreated with 3‐methylcholanthrene. The aforementioned data indicate that CYP1A is involved in the metabolism of 5‐fluorouracil in rats. Copyright © 2007 John Wiley & Sons, Ltd.
Oral‐intravenous crossover study of fingolimod pharmacokinetics, lymphocyte responses and cardiac effects
Authors: Kovarik John M. , Hartmann Stefan , Bartlett Michael , Riviere Gilles‐Jacques , Neddermann Daniel , Wang Yibin , Port Andreas , Schmouder Robert L. 
Published: January 2007

AbstractObjective. The pharmacokinetics and lymphocyte responses to the immunomodulator fingolimod (FTY720) were characterized after oral and intravenous administration.Methods. In this randomized, two‐period crossover study 11 evaluable healthy subjects received single doses of fingolimod 1.25 mg orally and 1 mg intravenously infused over 2 h. The pharmacokinetics of fingolimod, blood lymphocyte counts and heart rate were characterized for 28 days after each dose.Results. After oral administration, Cmax was 1.1±0.2 ng/ml occurring at 12 h postdose and the AUC was 201±31 ng.h/ml. After intravenous infusion, Cmax was 4.9±0.8 ng/ml, AUC was 175±50 ng. h/ml, clearance was 6.3±2.3 l/h and distribution volume was 1199±260 l. The oral/intravenous ratio of dose‐normalized AUCs was 0.94 (95%CI: 0.78–1.12). The pharmacologically active metabolite fingolimod‐phosphate was quantifiable near its peak after oral administration but not after intravenous administration. The mean lymphocyte nadir occurred on day 1 and was 35% lower after oral (0.74 × 109/l) than after intravenous (1.15 × 109/l) administration. Lymphocytes recovered to the normal range by day 15 for both treatments. The mean heart rate nadir occurred 3–4 h postdose and was 11% lower after oral administration (47 bpm) versus intravenous administration (53 bpm).Conclusions. Average systemic exposure to fingolimod was similar after oral and intravenous administration. However, the acute decrease in lymphocyte counts was weaker after intravenous administration, likely because of lower blood levels of the active metabolite fingolimod‐phosphate compared with oral administration. Copyright © 2007 John Wiley & Sons, Ltd.
Disposition of abouthiouzine: a novel antihyperthyroid drug
Authors: Alkharfy Khalid M. , Khan Rao Muzaffar A. , Al‐Hadiya Badraddin M. , Abou‐Auda Hisham S. , Abou‐Shaaban Rafiq R. 
Published: January 2007

AbstractAbouthiouzine is a novel antithyroid agent with a profile of fewer reported adverse effects than other currently used drugs. The purpose of this current work was to explore, for the first time, the disposition of abouthiouzine following intravenous and oral administration using an animal model; also, to study its plasma protein binding properties. Abouthiouzine (2 mg/kg intravenously) was administered to healthy male Vole rabbits and Beagle dogs. A dose of 20 mg/kg of the drug was also given orally to another group of Beagle dogs. Abouthiouzine plasma concentrations were measured using an HPLC method, and its pharmacokinetic parameters were determined by non‐compartmental analysis. Abouthiouzine plasma protein binding was determined using an ultrafiltration technique. The drug was quickly eliminated from the rabbit and dog systemic circulations with terminal half‐lives (T1/2λ) of 0.7 h and 1.9 h, respectively. The calculated T1/2λ following the oral administration in dogs was 1.8 h. Total abouthiouzine clearance (CL) in rabbits was 7.84±0.87 ml/min/kg, and 4.03±0.83 ml/min/kg in dogs. The apparent volume of distribution at steady state (Vss) in rabbits and dogs was 360.09±63.41 ml/kg and 481.10±62.64 ml/kg, respectively. The absolute oral bioavailability in dogs was ∼16%, which may indicate poor absorption characteristics of the pure drug and/or an extensive first past effect. Protein binding studies have demonstrated that abouthiouzine has moderate‐to‐high binding properties (∼63%–86%). Further studies are needed to evaluate the route of elimination of abouthiouzine in these animal models including any metabolite formation and the role of enterohepatic recycling in this process. Copyright © 2007 John Wiley & Sons, Ltd.
Development of O‐acyl isopeptide method
Authors: Sohma Youhei , Yoshiya Taku , Taniguchi Atsuhiko , Kimura Tooru , Hayashi Yoshio , Kiso Yoshiaki 
Published: January 2007

AbstractDuring over a decade of study on aspartic protease inhibitors and water‐soluble prodrugs, in 2003, we discovered that the presence of an O‐acyl instead of N‐acyl residue within the peptide backbone significantly changed the secondary structure of the native peptide. In addition, the target peptide was subsequently generated by an O‐N intramolecular acyl migration reaction. These findings led to the development of a novel method, called “O‐acyl isopeptide method,” for the synthesis of peptides containing difficult sequence. Further application of the method to Alzheimer's Aβ1‐42 revealed that the O‐acyl isopeptide of Aβ1‐42 could be effectively synthesized and stored without spontaneous self‐assembly. Intact monomer Aβ1‐42 could then be obtained from the isopeptide under physiological experimental conditions. We named the O‐acyl isopeptide as “Click Peptide,” because of its “quick and easy one‐way conversion” to the parent Aβ1‐ 42. Application of the click peptide has provided a new basis for the investigation of the biological functions of Aβ1‐42 by inducible activation of its self‐assembly. The O‐acyl isopeptide method has further evolved as a general method for peptides synthesis with our recent developments of “O‐acyl isodipeptide units” and “racemization‐free segment condensation methodology.” Isodipeptide units have enabled routine use of the O‐acyl isopeptide method by avoiding the often difficult esterification reaction on resin. “Racemizationfree segment condensation methodology” has been achieved by employing N‐segments possessing a C‐terminal urethaneprotected O‐acyl Ser/Thr residues. The synthesis of long peptides/proteins by racemization‐free segment condensation has thus become possible at Ser/Thr residues instead of Cterminal Gly/Pro residues. As the O‐acyl isopeptide method becomes more widely utilized, we have composed this review to facilitate its application for the production of peptides and proteins. © 2007 Wiley Periodicals, Inc. Biopolymers (Pept Sci) 88: 253–262, 2007.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
Learning in a gene technology laboratory with educational focus: Results of a teaching unit with authentic experiments
Authors: Scharfenberg Franz‐Josef , Bogner Franz X. , Klautke Siegfried 
Published: January 2007

AbstractIn an effort to overcome deficiencies in teaching molecular biology at school, a workshop in an out‐of‐school laboratory including only authentic experiments was developed. Evaluation of 337 A‐level 12th graders followed a quasi‐experimental design, with one hands‐on group, two non‐experimental control groups (at school/in the laboratory), and one group with no intervention. Their cognitive achievement was monitored by pre‐, post‐, and retention tests and analyzed for inter‐group differences. Test items were differentiated into the “updated prior knowledge” and the “project‐oriented” set relating to new knowledge. All intervention groups increased knowledge either as a whole or in relation to the project, whereas updating of prior knowledge was observed only in the laboratory, independently of experimenting. The hands‐on group provided a higher learning success as regards knowledge acquisition as a whole, whereas the non‐experimental laboratory group was more successful in updating prior knowledge, both groups in comparison with the school group. Nevertheless, the hands‐on group's achievement scores dropped more than those of the school group. Learning motivation may have been higher in the laboratory, furthered by the involvement in experiments, as shown by correlation analysis. However, the experimental situation may comply with the cognitive load theory by a substantially higher contribution of extraneous load.
A simple experiment to show photodynamic inactivation of bacteria on surfaces
Authors: Caminos Daniel A. , Durantini Edgardo N. 
Published: January 2007

AbstractNew suitable approaches were investigated to visualize the photodynamic inactivation (PDI) of bacteria immobilized on agar surfaces. The PDI capacities of a cationic photosensitizer (5,10,15,20‐tetra(4‐N,N,N‐trimethylammoniumphenyl)porphyrin) and an anionic photosensitizer (5,10,15,20‐tetra(4‐sulfonatophenyl)porphyrin) were analyzed on a typical Gram‐negative bacterium Escherichia coli following two procedures. In Experiment I, the E. coli cells were grown as lawn on agar surface containing the sensitizers spread in a small area (10 nmol in ∼0.6 cm2). After irradiation with visible light (10 min, 90 milliwatts/cm2), no cells were grown in the area containing the cationic porphyrin. In Experiment II, small colonies (∼2‐mm diameter) of E. coli on agar were treated with a solution of sensitizer (10 nmol) and irradiated with visible light for 3 h. Overnight incubation at 37 °C shows a growth delay of E. coli colonies treated with the cationic photosensitizer. In contrast, the anionic porphyrin did not produce appreciable photodamage. These experiments could be either used in an undergraduate project for natural science advance students or used for a postgraduate practical training course. This methodology illustrates the application of PDI to treat bacteria growing as localized foci of infection.
Chromatographic separation of two proteins
Authors: Szeberenyi Jozsef 
Published: January 2007

AbstractTerms to be familiar with before you start to solve the test: ion exchange chromatography, gel filtration, column chromatography, elution, chromatography fractions, void volume (Vo), elution volume (Ve), SDS‐polyacrylamide gel electrophoresis, isoelectric point, isoelectric focusing, CsCl gradient centrifugation.
Protein engineering: Case studies of commercialized engineered products
Authors: Walsh Gary 
Published: January 2007

AbstractPrograms in biochemistry invariably encompass the principles of protein engineering. Students often display increased understanding and enthusiasm when theoretical concepts are underpinned by practical example. Herein are presented five case studies, each focusing upon a commercial protein product engineered to enhance its application‐relevant functionality. The case studies may be incorporated into a standard lecture series detailing protein engineering or may form the basis of a class‐led post‐lecture series discussion.
Education resources for guiding discussions on ethics in science
Authors: Arkwright‐Keeler Daryl L. , Stapleton Susan R. 
Published: January 2007

AbstractFaculty, staff, and students at all levels of educational institutions are becoming more aware about ethical issues in the classroom and in research. As educators, it is our responsibility to provide an opportunity to discuss these issues so that future scientists will be prepared to face the many ethical challenges they may encounter. Often, unfortunately, we are reticent to engage in this discussion due solely to the lack of our own repertoire of resources regarding ethics. Thus, this summary of educational resources was compiled to promote ethics discussions in science classrooms and research programs.
Formulation of questions followed by small group discussion as a revision exercise at the end of a teaching module in biochemistry
Authors: Bobby Zachariah , Koner Bidhan Chandra , Sridhar M. G. , Nandeesha H. , Renuka P. , Setia Sajita , Kumaran S. Senthil , Asmathulla S. 
Published: January 2007

AbstractUndergraduate medical students get fewer opportunities to clarify their doubts and to reinforce their understanding of concepts after lecture classes. There is no information available in the literature that addresses the question of usefulness of prior formulation of questions followed by small group discussion by undergraduate medical students as a revision exercise. The purpose of this work is to evaluate the effect of formulation of objective type short answer questions by undergraduate medical students followed by small group discussion on the answers of the questions prepared as a revision exercise on their understanding of the topic “amino acid metabolism” and the retention of the gain after 15 days. At the end of a regular teaching module on the topic of amino acid metabolism, undergraduate medical students were asked to prepare 16 objective type short answer questions on the various aspects of the topic as homework. Small group discussions involving 12–14 students in each group and lasting one hour were conducted on the questions and answers prepared by them in the presence of a faculty member. The effects on low, medium, and high achievers were evaluated with multiple choice questions by pre‐test and post‐tests before and after the group discussion. Formulation of questions was highly effective in improving understanding on the topic for all the students. The overall mean post‐test scores after the formulation of questions (12.6) and after the small group discussion that followed (14.7) were significantly higher than the mean pre‐test score (8.5). For high achievers, the gain from formulation of questions was higher than the gain from small group discussion. Small group discussion was highly effective for all students. The gain from small group discussion was higher among the low and medium achievers in comparison with the high achievers. The gain from the exercise was retained among the low, medium, and high achievers after 15 days. In conclusion, formulation of short answer questions followed by small group discussion on the answers of the questions prepared by the undergraduate medical students is an effective revision exercise for improving their understanding on a selected topic.
Common polymorphisms in 5‐lipoxygenase and 12‐lipoxygenase genes and the risk of incident, sporadic colorectal adenoma
Authors: Gong Zhihong , Hebert James R. , Bostick Roberd M. , Deng Zonglin , Hurley Thomas G. , Dixon Dan A. , Nitcheva Daniela , Xie Dawen 
Published: January 2007

AbstractBACKGROUND.Lipoxygenases (LOX) are major enzymes that metabolize arachidonic acid to hydroxyl‐eicosatetraenoic acids and leukotrienes, which have been implicated in inflammation and colorectal cancer risk. Polymorphisms in LOX genes may influence their function and/or expression and, thus, may modify the risk for colorectal adenoma. The authors investigated the associations of 3 polymorphisms (2 in 5‐LOX, −1708 guanine→adenine and 21 cytosine→thymine; and 1 in 12‐LOX, arginine 261 glutamine [Arg261Gln]) in LOX genes with the risk of colorectal adenoma and also explored possible interactions of these polymorphisms with several inflammation‐pathway or arachidonic acid metabolism‐pathway related factors with the risk of colorectal adenoma.METHODS.By using data from a community‐based, case‐control study of incident, sporadic colorectal adenoma that included 162 cases and 211 controls, the authors constructed multiple logistic regression models to estimate the odds ratios (OR) and 95% confidence intervals (95% CI) of colorectal adenoma after adjusting for potential confounders.RESULTS.Overall, there were no significant associations of the 2 5‐LOX polymorphisms with the risk of colorectal adenoma. However, there was an inverse association between the Arg261Gln polymorphism in 12‐LOX and colorectal adenoma (OR, 0.63; 95% CI, 0.40–1.00). A significant interaction also was observed between the 12‐LOX polymorphism (Arg261Gln) and the use of nonsteroidal anti‐inflammatory drugs (Pinteraction = .02).CONCLUSIONS.The current results suggested that polymorphisms of LOX genes may act independently or with other factors to affect the risk of colorectal adenoma. Further studies will be needed to confirm these findings. Cancer 2007 © 2007 American Cancer Society.
Fine‐needle aspiration cytology of epidermoid cyst of the thyroid: Report of a case and review of seven cases
Authors: Chen Karl T. K. 
Published: January 2007

AbstractThe cytological and histological features of a case of epidermoid cyst of thyroid are reported. Unlike the more common intrathyroid branchial cleft cyst, this lesion does not contain any lymphoid tissue. The presence of scattered small groups of smooth muscle fibers in the periepithelial fibrous tissue in this case suggests a teratomatous histogenesis. Diagn. Cytopathol. 2007;35:123–124. © 2007 Wiley‐Liss, Inc.
Fine‐needle aspiration cytologic diagnosis of metastatic melanotic schwannoma: Familial case of a mother and daughter with Carney's complex and literature review
Authors: Mosunjac Marina B. , Johnston Elizabeth I. , Mosunjac Mario I. 
Published: January 2007

AbstractCarney's complex is an autosomal dominant, multisystem tumorous disorder that includes myxomas, spotty skin pigmentation, endocrine tumors, and peripheral nerve tumors. Psammomatous melanotic schwannomas have recently been included as a part of this complex. Here, we describe the first known familial case of a mother and daughter, both presenting with malignant, already metastatic, pigmented schwannomas initially diagnosed as metastatic melanoma by CT guided fine‐needle aspiration.Patients with highly pigmented, extra‐cutaneous lesions that are clinically and pathologically suspicious for metastatic malignant melanoma, without known primary tumor, should be evaluated for possible Carney's complex. Additional screening of family members should be recommended to exclude the presence of potentially malignant neoplasms, such as psammomatous melanotic schwannomas. Diagn. Cytopathol. 2007;35:130–134. © 2007 Wiley‐Liss, Inc.
Cytology of anaplastic giant cell carcinoma of the thyroid with osteoclast‐like giant cells—A case report
Authors: Mehdi Ghazala , Ansari Hena A. , Siddiqui Shahid Ali 
Published: January 2007

AbstractAnaplastic carcinoma of the thyroid is known for its highly aggressive behaviour and rapid spread. While the giant cell variant is a well recognized morphologic pattern, the presence of osteoclast‐like giant cells is a rare occurrance. We report a case of anaplastic carcinoma of the thyroid with focal presence of osteoclast‐like giant cells occurring in an elderly male patient, diagnosed on aspiration cytology. Diagn. Cytopathol. 2007;35:111–112. © 2007 Wiley‐Liss, Inc.
Cytologic diagnosis of columnar‐cell lesions of the breast
Authors: Jensen Kristin C. , Kong Christina S. 
Published: January 2007

AbstractThis study describes the cytologic features of breast columnar‐cell lesions (CCLs) and determines whether these lesions can be diagnosed by fine‐needle aspiration. We present ten cases of biopsy‐proven CCL with prior fine‐needle aspiration material and discuss the spectrum of changes, as well as features important in the cytologic distinction of CCL from diagnostic mimics. CCLs were characterized by flat sheets of cells with enlarged nuclei, distinct cell borders, and finely granular cytoplasm. Cytologic atypia ranged from minimal to severe, and many cases (8/10) exhibited a paucity of myoepithelial cells. CCL showed significant cytologic overlap with papillary neoplasms and well‐differentiated adenocarcinomas. The prospective diagnosis of CCL cannot reliably be made by fine‐needle aspiration. However, it is important to recognize the range of cytologic atypia that can be seen with CCL to avoid an overdiagnosis of malignancy. Diagn. Cytopathol. 2007;35:73–79. © 2007 Wiley‐Liss, Inc.
Cytopathologic findings in an immature cystic teratoma: Report of an unusual case
Authors: Balco Michael T. , Burroughs Frances H. , Ali Syed Z. 
Published: January 2007

AbstractTeratomas are uncommon, usually benign tumors often found in young women. We describe the cytopathology of an unusual case of a large congenital teratoma in a 6‐day‐old girl. The patient initially showed signs of abdominal distention and a follow‐up ultrasound and computerized‐tomography (CT) revealed a cystic mass in the pelvis. An ultrasound‐guided fine‐needle aspiration (FNA) showed small round blue cells suspicious for a primitive neuronal tumor. Resection of the mass displayed a cystic teratoma with distinct nests of small round blue cells representing immature neuroepithelial and glial tissue. Also noted were admixed mature elements of a cystic teratoma. Cytologic finding of a small round blue cell tumor, therefore, was the immature component of the teratoma. This case illustrates the difficulties in diagnosing teratomas due to their extraordinary diversity. Diagn. Cytopathol. 2007;35:120–122. © 2007 Wiley‐Liss, Inc.