bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical features and management issues in Mowat–Wilson syndrome
Authors: Adam Margaret P. , Schelley Susan , Gallagher Renata , Brady April N. , Barr Kimberly , Blumberg Bruce , Shieh Joseph T.C. , Graham John , Slavotinek Anne , Martin Madelena , Keppler‐Noreuil Kim , Storm Andrea L. , Hudgins Louanne 
Published: November 2006

AbstractMowat–Wilson syndrome (MWS) is a relatively newly described multiple congenital anomaly/mental retardation syndrome. Haploinsufficiency of a gene termed ZFHX1B (also known as SIP1) on chromosome 2 is responsible for this condition, and clinical genetic testing for MWS recently became available. The majority of reports in the literature originate from Northern Europe and Australia. Here we report our clinical experience with 12 patients diagnosed with MWS within a 2‐year period of time in the United States, with particular emphasis on clinical characteristics and management strategies. Individuals with this condition have characteristic facial features, including microcephaly, hypertelorism, medially flared and broad eyebrows, prominent columella, pointed chin, and uplifted earlobes, which typically prompt the clinician to consider the diagnosis. Medical issues in our cohort of patients included seizures (75%) with no predeliction for any particular seizure type; agenesis of the corpus callosum (60% of our patients studied); congenital heart defects (75%), particularly involving the pulmonary arteries and/or valves; hypospadias (55% of males); severely impaired or absent speech (100% of individuals over 1 year of age) with relatively spared receptive language; and Hirschsprung disease (50%) or chronic constipation (25%). The incidence of MWS is unknown, but based on the number of patients identified in a short period of time within the US, it is likely greatly under recognized. MWS should be considered in any individual with severely impaired or absent speech, especially in the presence of seizures and anomalies involving the pulmonary arteries (particularly pulmonary artery sling) or pulmonary valves. © 2006 Wiley‐Liss, Inc.
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
Authors: Hüffmeier Ulrike , Zenker Martin , Hoyer Juliane , Fahsold Raimund , Rauch Anita 
Published: November 2006

AbstractSigns of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosis‐Noonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonan‐like features. The molecular basis of these combined phenotypes was poorly understood and controversially discussed over several decades. Only recently, there is increasing evidence for WS and NFNS being allelic to NF1 in the majority of patients. In this study we describe seven novel patients from five unrelated families with variable phenotypes of the NF1‐NS spectrum which were systematically analyzed for mutations in the disease‐causing genes NF1 for NF1 and PTPN11 for NS. Heterozygous mutations or deletions of NF1 were identified in all patients, while no PTPN11 mutation was found. The NF1 mutation segregated with the phenotype in both familial cases. These results support the hypothesis that variable phenotypes of the NF1‐NS spectrum represent variants of NF1 in the majority of cases. Constitutive deregulation of the Ras pathway either through activating mutations of PTPN11 or through haploinsufficiency of neurofibromin, which acts as a Ras‐inactivating GTP‐ase, is probably the common pathogenetic mechanism explaining the phenotypic overlap of NS and NF1. © 2006 Wiley‐Liss, Inc.
Aldolreaktionen in der Totalsynthese von Polyketiden
Authors: Schetter Bernd , Mahrwald Rainer 
Published: November 2006

AbstractDie Aldolreaktion gehört zu den wichtigsten Methoden der organischen Synthesechemie für den stereoselektiven Aufbau von polyketiden Naturstoffen. Dabei bedient sich die Natur gleichermaßen wie der präparativ arbeitende Chemiker dieser fundamentalen Reaktion. Die rasante Entwicklung auf dem Gebiet der stereoselektiven Aldolreaktionen während der letzten 30 Jahre führte zur Totalsynthese vieler komplexer Naturstoffe. Dieser Beitrag illustriert anhand ausgewählter Totalsynthesen von Naturstoffen diese neuartigen Varianten der Aldoladdition. Dabei werden Aldoladditionen, die sich unterschiedlicher Metallenolate bedienen, ebenso behandelt wie metallkomplexkatalysierte, organokatalytische sowie biokatalytische Methoden.
Gene expression profile analysis using discrimination and fuzzy classification methods
Authors: Kapil Ankur , Gudi Ravindra D. , Noronha Santosh B. 
Published: November 2006

AbstractThere is a huge incentive for gene expression analysis and identification of biologically meaningful clusters from microarray data. However, the high dimensionality of the data poses challenges for this task. Here, to reduce this problem of irrelevant dimensions, we consider three different projection methods, viz. principal components analysis (PCA), correspondence analysis (CA), and multiple discriminant analysis (DA). To account for the possibility of pleiotropy, where the expression of certain genes may be related to more than one phenotypical condition, we use fuzzy clustering on the lower dimensional space generated by PCA, CA, and DA. Fuzzy clustering permits partial belonging of an attribute, such as gene expression, to different functionalities and hence is eminently suited for this task. To determine the optimum number of clusters, we evaluate various cluster validity indices. In this paper, we compare these methodologies when applied to the data generated by a genetic network simulator (eXPatGen) and also to the experimental micro array data available for yeast S. cerevisiae. © 2006 Curtin University of Technology and John Wiley & Sons, Ltd.
3‐Heptylamino‐5‐Phenylpyridazine Derivatives as Analogues of Acyl‐CoA: Cholesterol Acyltransferase Inhibitors Containing the N‐Heptyl‐N′‐Arylureidic Moiety
Authors: Gelain Arianna , Barlocco Daniela , Kwon Byong‐Mog , Jeong Tae‐Sook , Im Kyung‐Ran , Legnani Laura , Toma Lucio 
Published: November 2006

AbstractA series of novel Acyl‐CoA: cholesterol acyltransferase (ACAT) inhibitors 8a–f was synthesized; the substances were characterized by the presence of a 2,5‐dimethylpyrazin‐3‐yl moiety at one end and a 3‐heptylamino‐5‐phenylpyridazine system at the other one, linked through linear alkyl spacers of different length. The new derivatives were designed based on the hypothesis that the 3‐amino‐5‐phenylpyridazine moiety could mimic the aryl substituted urea, which was present in a number of ACAT inhibitors previously described. The choice of the 2,5‐dimethylpyrazin‐3‐yl substituent was supported by a preliminary investigation, which indicated that this moiety is the most powerful in conferring ACAT inhibitory properties to the new series. The pharmacological results proved the idea to be sound. Finally, compounds 9a–c, lacking the phenylpyridazine moiety were prepared and tested to further strengthen our hypothesis.
First Total Synthesis of the 2,7‐Naphthyridine Alkaloids Lophocladine A and B
Authors: Lotter Matthias , Schilling Johannes , Reimann Eberhard , Bracher Franz 
Published: November 2006

AbstractThe one‐pot reaction of 4‐benzylpyridine‐3‐carbonitrile with Bredereck's reagent and subsequent treatment with either glacial acetic acid and sulfuric acid or ammonium acetate provided the new bioactive naphthyridine alkaloids lophocladine A and B, respectively.
On Testing Simultaneously Non‐inferiority in Two Multiple Primary Endpoints and Superiority in at Least One of Them
Authors: Röhmel Joachim , Gerlinger Christoph , Benda Norbert , Läuter Jürgen 
Published: November 2006

AbstractIn a clinical trial with an active treatment and a placebo the situation may occur that two (or even more) primary endpoints may be necessary to describe the active treatment's benefit. The focus of our interest is a more specific situation with two primary endpoints in which superiority in one of them would suffice given that non‐inferiority is observed in the other. Several proposals exist in the literature for dealing with this or similar problems, but prove insufficient or inadequate at a closer look (e.g. Bloch et al. (2001, 2006) or Tamhane and Logan (2002, 2004)). For example, we were unable to find a good reason why a bootstrap p ‐value for superiority should depend on the initially selected non‐inferiority margins or on the initially selected type I error α. We propose a hierarchical three step procedure, where non‐inferiority in both variables must be proven in the first step, superiority has to be shown by a bivariate test (e.g. Holm (1979), O'Brien (1984), Hochberg (1988), a bootstrap (Wang (1998)), or Läuter (1996)) in the second step, and then superiority in at least one variable has to be verified in the third step by a corresponding univariate test. All statistical tests are performed at the same one‐sided significance level α. From the above mentioned bivariate superiority tests we preferred Läuter's SS test and the Holm procedure for the reason that these have been proven to control the type I error strictly, irrespective of the correlation structure among the primary variables and the sample size applied. A simulation study reveals that the performance regarding power of the bivariate test depends to a considerable degree on the correlation and on the magnitude of the expected effects of the two primary endpoints. Therefore, the recommendation of which test to choose depends on knowledge of the possible correlation between the two primary endpoints. In general, Läuter's SS procedure in step 2 shows the best overall properties, whereas Holm's procedure shows an advantage if both a positive correlation between the two variables and a considerable difference between their standardized effect sizes can be expected. (© 2006 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Trial Designs for Targeted Therapies
Authors: Thompson Simon G. 
Published: November 2006

AbstractThis is a discussion of the paper ‘Making efficient use of patients in designing phase III trials investigating simultaneously a set of targeted therapies with different targets’ by Werner Vach and Rene dePont Christensen. (© 2006 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
Environmental biotechnology in China: Progress and prospect
Authors: Zhong Weihong , Chen Jianmeng 
Published: November 2006

AbstractBiotechnology could be widely applied in the technological development of environmental protection. This report gives a brief Chinese review on the major progress of environmental biotechnology in the following fields: Monitoring technology and treatment of dioxin‐like chemicals and cyanobacterial toxins, biofiltration for air pollution control, solid waste treatment and reutilization, bioremediation of soil pollution, risk assessment and control of endocrine disturbing substances in environment, wastewater treatment, clean production and recycling economy. The effect of government policy and fund on the progress of environmental biotechnology is also discussed.
Future of biomedical sciences: Single molecule microscopy
Authors: Walter Nils G. 
Published: November 2006

AbstractThe behavior of single molecule defines whether a cell lives, dies, or responds to a specific drug treatment. Single molecule microscopies have begun to reveal the number, location, and functionalities of molecules outside and inside living cells. This issue of Biopolymers presents a first set of reviews that aim to highlight the accomplishments and future prospects of single molecule microscopies. © 2006 Wiley Periodicals, Inc. Biopolymers 85:103–105, 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
Randomized clinical trial of 0·2 per cent glyceryl trinitrate ointment for wound healing and pain reduction after open diathermy haemorrhoidectomy
Authors: Tan K-Y , Sng K K , Tay K-H , Lai J-H , Eu K-W 
Published: November 2006

Abstract

Background
Open haemorrhoidectomy is associated with considerable postoperative pain and discomfort. This study assessed whether glyceryl trinitrate (GTN) ointment promotes wound healing and reduces pain after open haemorrhoidectomy.

Methods
A randomized prospective double-blind placebo-controlled trial was conducted. Patients were randomized to either 0·2 per cent GTN ointment or placebo ointment (petroleum jelly). Patients were asked to fill in a pain diary. Complete healing was defined as complete epithelialization.

Results
There were 40 patients in the GTN group and 42 in the placebo group. There were no statistically significant differences in sex, weight, type of haemorrhoid, type of surgery (emergency or elective), number of haemorrhoids excised, duration of surgery, hospital stay and complication rate between the groups. Pain scores and analgesic use were not significantly different. By week 3, however, 17 patients in the GTN group had completely epithelialized wounds compared with eight patients in the placebo group (P = 0·021). Only one patient who received GTN experienced headache requiring discontinuation of the ointment.

Conclusion
TGN 0·2 per cent ointment improved wound healing rates, but did not reduce pain in this study.
Origins of the gonadal artery: Embryologic implications
Authors: Shoja Mohammadali M. , Tubbs R. Shane , Shakeri Abolhassan B. , Oakes W. Jerry 
Published: November 2006

AbstractThe gonadal arteries are paired vessels that usually originate from the abdominal aorta at the level of second lumbar vertebra. In 5–20% of cases, the gonadal artery has a high origin (superior to L2) and in 5–6% of cases it originates from the main or accessory renal artery. The latter is referred to here as an aberrant gonadal artery. Ninety‐eight kidneys of 50 healthy potential renal transplant donors were prospectively studied by conventional angiography. The renal artery, either main or accessory, was detected and individually injected to highlight their perihilar divisions and possible extrarenal branches. The gonadal arteries were recorded if they originated from the renal arteries. We found that 39% (n = 38) of kidneys had at least one accessory renal artery. In 14 sides (14% of kidneys), the gonadal artery (11 right and 3 left) originated from the renal artery, either main (n = 5) or accessory (n = 9). Ten out of 14 kidneys with an aberrant gonadal artery had an associated accessory renal artery. In nine cases, the gonadal artery originated from the accessory renal artery, and in one case, although it originated from the main renal artery, the same kidney had an accessory arterial supply. The results of this study demonstrate that aberrant gonadal arteries tend to originate from kidneys that possess an accessory arterial supply. We hypothesize that aberrancies of the gonadal artery are a part of a common embryologic error resulting in the persistence of the future accessory renal arteries. We believe that this study is the first to hypothesize and study such an association with these arterial anomalies of the renal pedicle. Clin. Anat. 20:428–432, 2007. © 2006 Wiley‐Liss, Inc.
Variations of the nutrient artery of the fibula
Authors: Kocabiyik Necdet , Yalçin Bülent , Ozan Hasan 
Published: November 2006

AbstractIn this study the authors aimed to show variations of the nutrient artery of the fibula, which is important for more effective vascularized fibular grafts. Thirty intact legs were examined to determine the number, location, and diameter of the nutrient arteries in the shaft. In 27 of these specimens (90%) there was single nutrient artery; two legs (6.6%) had double nutrient artery. In one leg (3.3%) no nutrient artery was observed. The number of nutrient arteries found on each of the surfaces was summarized as follows. Most of the nutrient arteries pierced the fibula at its medial crest, while only one entered from the posterior surface. Most nutrient arteries were near the middle third of the fibula. The most frequent diameter of the nutrient artery was 0.9–1.5 mm. The authors think that their results about the variations of the nutrient artery supplying the fibula will contribute to the clinical and vascular anatomy knowledge. Clin. Anat. 20:440–443, 2007. © 2006 Wiley‐Liss, Inc.
A New Photoactive Building Block for Investigation of DNA Backbone Interactions: Photoaffinity Labeling of Human DNA Polymerase β
Authors: Liebmann Meike , Di Pasquale Francesca , Marx Andreas 
Published: November 2006

AbstractThe cross‐linking of target proteins or nucleic acids to light‐activatable ligands is an important tool for elucidating molecular interactions. Through the use of photoaffinity‐labeling reagents, several new insights into nucleic acid interactions have been obtained, for example in DNA replication and repair. In most known photoprobes, the applied light‐sensitive functionalities are placed directly at the nucleobase or are attached via linkers to either the nucleobase or the phosphate backbone. Here we describe the first photoprobe that bears a light‐sensitive aryl(trifluoromethyl)diazirine at the sugar moiety of a DNA oligonucleotide. We devised a route for the synthesis of the modified nucleoside and its incorporation into an oligonucleotide. The photoactive species was proven to be stable under the conditions employed in routine automated DNA synthesis. The modified oligonucleotide was shown by subsequent photolabeling studies of human DNA polymerase β to form a covalent complex to the enzyme upon irradiation with near‐UV light.
A Gene Cluster for Prenylated Naphthoquinone and Prenylated Phenazine Biosynthesis in Streptomyces cinnamonensis DSM 1042
Authors: Haagen Yvonne , Glück Kerstin , Fay Katja , Kammerer Bernd , Gust Bertolt , Heide Lutz 
Published: November 2006

AbstractStreptomyces cinnamonensis DSM 1042 produces two classes of secondary metabolites of mixed isoprenoid/nonisoprenoid origin: the polyketide–isoprenoid compound furanonaphthoquinone I (FNQ I) and several prenylated phenazines, predominantly endophenazine A. We now report the cloning and sequence analysis of a 55 kb gene cluster required for the biosynthesis of these compounds. Several inactivation experiments confirmed the involvement of this gene cluster in the biosynthesis of FNQ I and endophenazine A. The six identified genes for endophenazine biosynthesis showed close similarity to phenazine biosynthetic genes from Pseudomonas. Of the 28 open reading frames identified in the adjacent FNQ I cluster, 13 showed close similarity to genes contained in the cluster for furaquinocin—a structurally similar metabolite from another Streptomyces strain. These genes included a type III polyketide synthase sequence, a momA‐like monooxygenase gene, and two cloQ‐like prenyltransferase genes designated fnq26 and fnq28. Inactivation experiments confirmed the involvement of fnq26 in FNQ I biosynthesis, whereas no change in secondary‐metabolite formation was observed after fnq28 inactivation. The FNQ I cluster contains a contiguous group of five genes, which together encode all the enzymatic functions required for the recycling of S‐adenosylhomocysteine (SAH) to S‐adenosylmethionine (SAM). Two SAM‐dependent methyltransferases are encoded within the cluster. Inactivation experiments showed that fnq9 is responsible for the 7‐O‐methylation and fnq27 for the 6‐C‐methylation reaction in FNQ I biosynthesis.
Sealing of Rotary Drums for Operation Under Pressurized Conditions
Authors: Shirvani M. , Khanof M. H. , Yousefi M. R. , Sadighi S. 
Published: November 2006

AbstractIn practice, rotary drums are usually designed for operation under vacuum conditions. In this paper, a novel technique is proposed for sealing the rotary drums under pressurized operating conditions. The proposed system is based on applying a secondary pressurized volume around the leaking gap of the drum. By maintaining the pressure of this volume a little above the pressure of the drum, it is possible to prevent leakage of gases to the ambient environment. The objective of the controller in this system is to keep the pressure of the secondary volume above the pressure level of the drum, independent of the disturbances, which may exerted on the system by the wind outside the drum. The control system is also required to trace the variations in the drum pressure, with the least fluctuations in the pressure difference between the drum and the volume.
A Simple Approach to Measuring the Gas Phase Heat and Mass Transfer Coefficients in a Bubble Column
Authors: Daous M. , Al‐Zahrani A. 
Published: November 2006

AbstractA simple experimental approach was developed to measure the gas phase volumetric heat and mass transfer coefficients in a bubble column and a slurry bubble column employing a single gas nozzle. The experimental technique was based on a transfer model that simulates humidification and direct contact evaporation models in the case of a gas bubble rising in a liquid of uniform temperature. The temperature and relative humidity of the inlet and outlet gas in the column are the only measurements required in this technique. Experiments were carried out in a 0.15 m inner diameter column using water as the liquid phase, air as the gas phase, and cation resins of 0.1 mm diameter and a specific gravity of 1.2, as the solid phase. The results showed that, when using solid concentrations in the range of 7–10 wt %, both the volumetric gas‐phase heat and mass transfer coefficients increased with an increase in the gas superficial velocity and were further enhanced by increasing the solid load after a certain minimum superficial velocity had been reached in the column (0.044 m/s in the system used). Increasing the solid load beyond 10 wt %, did not contribute to a further increase in these coefficients. Furthermore, the gas holdup in the column increased with the superficial gas velocity and was further enhanced when the solid‐phase load was in the range of 7–10 wt %. These observations agree well with previously reported findings by other investigators.
A Mathematical Model to Compare the Efficiency of Cyclones
Authors: Hashemi S.B. 
Published: November 2006

AbstractTangential cyclones modified to form spiral cyclones are very efficient in separating solid particles from dust laden gases. They offer a lower gas pressure drop and higher particle separation efficiency when compared to basic tangential cyclones. Their high performance is believed to be related to their special structure. A mathematical model is introduced to explain why a spiral cyclone is more efficient than a tangential one. An experimental apparatus is designed to compare both the performances of spiral and tangential cyclones and to check the effectiveness of the model equations. The experimental data were found to be consistent with the model predictions.