bluuebunny/crossref_metadata_2025_split huggingface dataset:
The role of Notch receptor expression in bile duct development and disease
Authors: Flynn Diana M , Nijjar Sarbjit , Hubscher Stefan G , de Goyet Jean de Ville , Kelly Deirdre A , Strain Alastair J , Crosby Heather A 
Published: August 2004

AbstractMutations in the Jagged1 gene, a ligand for the Notch signalling pathway, have been implicated in the pathogenesis of Alagille syndrome (AGS), resulting in bile duct paucity. Recently, a mouse model for AGS suggested that abnormalities of the Notch2 receptor, as well as of Jagged1, may be present. Expression patterns of Notch receptors have not been described in the developing human liver or in paediatric liver. The expression of Notch receptors and ligands was examined in fetal, paediatric normal, and diseased human liver by RT‐PCR and immunohistochemistry. RT‐PCR showed Notch1–4 mRNA expression to be present. In fetal liver, Notch3 protein was expressed on mesenchymal cells, closely adjacent to ductal plate cells that expressed Jagged1. In paediatric normal liver, Notch1 and Notch2 were present on mature bile duct cells. Notch expression was altered in disease, with distinct differences in AGS from extrahepatic biliary atresia (EHBA) and α1‐anti‐trypsin deficiency (α1AT). In AGS, where extensive ductular reaction was present, Jagged1 was expressed on ductular reactive cells (DRCs), along with marked Notch2 and Notch3 staining. Where there was ductular paucity, Notch2 and Notch3 were not expressed on remaining biliary epithelial cells. In EHBA and α1AT, Notch receptor expression was not seen on DRCs. Instead, Notch2 and Notch3 were expressed by stromal cells. In all diseases, Notch3 was expressed on neovessels in portal tracts and cirrhotic fibrous septa. In conclusion, Notch3 is expressed in close proximity to Jagged1 at the time of ductal plate formation, suggesting that Notch3 is important for bile duct development. The expression of both Notch2 and Notch3 in AGS on DRCs confirms that these receptors may be important in the pathogenesis of this disease. Further studies are required to investigate the presence of Notch2 and Notch3 at other periods in liver development and to clarify the role of Notch signalling in paediatric cholestases. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Expression of keratinocyte growth factor/fibroblast growth factor‐7 and its receptor in human lung cancer: correlation with tumour proliferative activity and patient prognosis
Authors: Yamayoshi Takatomo , Nagayasu Takeshi , Matsumoto Keitarou , Abo Takafumi , Hishikawa Yoshitaka , Koji Takehiko 
Published: August 2004

AbstractKeratinocyte growth factor (KGF)/fibroblast growth factor‐7 (FGF‐7), a mesenchymal cell‐derived paracrine growth factor that specifically stimulates epithelial cell proliferation, has been implicated in the repair of lung tissue. The present study was designed to determine the expression and role of KGF and its receptor (KGFR) in human lung cancer tissues, particularly in relation to cancer cell kinetics and prognosis. Thirty‐one adenocarcinomas and 30 squamous cell carcinomas, and ten normal lung tissues as a control, were examined. The expression of KGF and KGFR proteins was examined using rabbit polyclonal anti‐human KGF and anti‐human KGFR antisera raised in the authors' laboratories against synthetic peptides corresponding to parts of human KGF KGFR, respectively. Their specificity was confirmed in lung tumour tissues by western blotting various controls. Proliferative activity was assessed by determining the labelling index (LI) for Ki‐67 antigen. Immunohistochemistry revealed that tissue co‐expression of KGF KGFR correlated significantly with higher differentiation grades in squamous cell carcinoma. Conversely, in adenocarcinoma, co‐expression correlated with lower differentiation grades high Ki‐67 LI, was significantly associated with lymph node metastasis shorter 5‐year survival. Therefore, the results indicate that co‐expression of KGF KGFR correlates significantly with poor prognosis in adenocarcinoma, but not in squamous cell carcinoma, of the lung. Copyright © 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Microwave‐facilitated extraction of furanocoumarins onto paper substrates: an imaging technique to analyse spatial distribution and abundance in leaves
Authors: Nitao James K. , Zangerl Arthur R. 
Published: August 2004

AbstractAn impediment to studying the implications of ﬁne‐scale variation in the distribution of secondary compounds within plants has been an inability to map their distribution. Conventional approaches require ﬁne‐scale dissections, followed by extraction and analysis, a strategy which is often limited by the large number of extractions required and by the difﬁculty in quantifying compounds in very small samples. A method has been developed which allows the microwave‐facilitated transfer of furanocoumarins from fresh leaves to two‐dimensional substrates (phase separation paper). The ﬂuorescence of these compounds under UV light is enhanced by treatment with base, which probably opens the lactone ring of the compounds. The developed prints are then photographed under UV light and the images analysed with commonly available software programs. Images so obtained for furanocoumarins in wild parsnip foliage revealed that the total ﬂuorescence from extracted furanocoumarins is correlated with the amount of furanocoumarins remaining in the leaf. Thus, the images provide information not only on spatial distribution but also quantitative data. Copyright © 2004 John Wiley & Sons, Ltd.
The chromatographic co‐elution of dihydrodehydrodiconiferyl alcohol monopyranose with eleutheroside E in Eleutherococcus senticosus: implications for eleutheroside E assays
Authors: Gaffney B. T. , Hügel H. M. , Rich P. A. 
Published: August 2004

AbstractDuring a quantiﬁcation assay of the constituents of Eleutherococcus senticosus by reverse‐phase HPLC using acetonitrile:water gradient elution, it was observed that a recently reported component, dihydrodehydrodiconiferyl alcohol monopyranose, co‐eluted with eleutheroside E. The implications of this ﬁnding for researchers and the herbal medicine industry are discussed. Copyright © 2004 John Wiley & Sons, Ltd.
Supercritical carbon dioxide extraction of chamomile flowers: extraction efﬁciency, stability, and in‐line inclusion of chamomile–carbon dioxide extract in β‐cyclodextrin
Authors: Kaiser C. S. , Römpp H. , Schmidt P. C. 
Published: August 2004

AbstractThe extraction of chamomile ﬂowers using supercritical carbon dioxide was investigated with respect to extraction efﬁciency and compared with solvent extraction. The stability of matricine, a sensitive constituent of the essential oil of chamomile, in these extracts was studied during storage at different temperatures over 6 months. Matricine was stable at −30°C. A slight decrease (80–90% recovery) occurred at +5°C, whereas complete decomposition of matricine took place within 3–4 months at room temperature and at +30°C, respectively. An in‐line inclusion of chamomile constituents in β‐cyclodextrin (β‐CD) during the extraction process was assessed and inclusion rates between 40 and 95% were obtained depending on the amount of β‐CD and the type of chamomile constituent. No further stabilization of matricine in the carbon dioxide extract/β‐CD complexes was achieved. High residual water contents in the complexes even after freeze‐drying were identiﬁed as accelerating the decomposition. In addition, the extractability of ﬂavonoids, such as apigenin and apigenin‐7‐glucoside, was determined. Apigenin‐7‐glucoside, the more hydrophilic substance, was not extractable with pure carbon dioxide and showed a recovery of 11% using methanol modiﬁed carbon dioxide (18%, w/w) at 60°C and 380 bar. Extraction conditions in the two‐phase region of the binary mixture carbon dioxide–methanol (70°C, 100 bar) led to a drastic change in ﬂuid polarity and hence extractability increased to 92–95%. Copyright © 2004 John Wiley & Sons, Ltd.
Comparison of extraction methods for secologanin and the quantitative analysis of secologanin from symphoricarpos albus using 1H‐NMR
Authors: Kim Hye Kyong , Choi Young Hae , Luijendijk Teus J. C. , Rocha Ronald Armando Vera , Verpoorte Robert 
Published: August 2004

AbstractIn order to develop an efﬁcient large‐scale extraction of secologanin from Symphoricarpos albus, different methods have been compared. Ultrasonication with organic solvents and water, microwave‐assisted extraction and hot water extraction methods were evaluated for their efﬁciencies. Among the methods tested, ultrasonication with methanol showed the highest yield of secologanin (3.35 ± 0.24 mg/g fresh weight). For reliable quantiﬁcation of secologanin a 1H‐NMR method was developed. The experiment was performed by the analysis of the integral of the signal of H‐9, which was well separated in the range δ 7.4–7.5 in the 1H‐NMR spectrum. The quantity of the compound was calculated from the relative ratio of intensity of the target peak to the known amount of internal standard, 200 µg of gallic acid. This method allows rapid and simple quantiﬁcation of secologanin in 5 min without any pre‐puriﬁcation steps. Copyright © 2004 John Wiley & Sons, Ltd.
Validated methods for the quantiﬁcation of biologically active constituents of poplar‐type propolis
Authors: Popova Milena , Bankova Vassya , Butovska Daniela , Petkov Valentin , Nikolova‐Damyanova Boryana , Sabatini Anna Gloria , Marcazzan Gian Luigi , Bogdanov Stefan 
Published: August 2004

AbstractThe validation of rapid, low‐cost spectrophotometric procedures for the quantiﬁcation of the three main groups of bioactive substances (ﬂavones and ﬂavonols, ﬂavanones and dihydroﬂavonols, and total phenolics) in poplar‐type propolis has been performed. A spectrophotometric assay based on the formation of an aluminium chloride complex was applied for the quantiﬁcation of total ﬂavones and ﬂavonols using galangin as standard. Because of the high amount of ﬂavanones and dihydroﬂavonols in “poplar type” propolis, the introduction of a distinct procedure for their quantiﬁcation was considered of special signiﬁcance and the DAB9 colorimetric method was applied for the purpose. Total phenolic content was measured by the Folin–Ciocalteu procedure using a mixture of pinocembrin and galangin as a reference. The procedures were validated using a model mixture of compounds representing the poplar‐type propolis composition as found in previous studies. The accuracy (recovery) varied in the range 84–109%, and the relative standard deviation was 0.5–6.2%. The developed spectrophotometric procedures were applied to six poplar type propolis samples. The results were veriﬁed independently by a HPLC procedure. The two sets of results agreed satisfactory, as proven by Student's t‐test. Copyright © 2004 John Wiley & Sons, Ltd.
A HPTLC densitometric determination of flavonoids from Passiﬂora alata, P. edulis, P. incarnata and P. caerulea and comparison with HPLC method
Authors: Pereira Cíntia A. M. , Yariwake Janete H. , Lanças Fernando M. , Wauters Jean‐Noël , Tits Monique , Angenot Luc 
Published: August 2004

AbstractA high‐performance thin layer chromatographic (HPTLC) method was developed in order to determine quantitatively the ﬂavonoids in leaves of Passiﬂora alata, P. edulis, P. caerulea and P. incarnata. The content of orientin and isoorientin was determined, and the results were compared with those obtained using a quantitative HPLC‐UV method. The latter employed rutin as standard and was developed to analyse ﬂavonoid content from Passiﬂora leaves for the purpose of ensuring the quality of Passiﬂora phytomedicines. The results obtained using the two methods indicate that there are qualitative and quantitative differences in the ﬂavonoids of the reference Passiﬂora species studied. The two methods were also employed to analyse commercial samples to illustrate their application in qualitative (‘ﬁngerprint’) and quantitative determination, demonstrating their feasibility in the quality control of ﬂavonoids from crude Passiﬂora drugs and phytomedicines. The HPLC conditions used are also suitable for the quantitative analysis of aqueous extracts (Passiﬂora infusions). Copyright © 2004 John Wiley & Sons, Ltd.
Positive maternal serum triple test screening in severe early onset hypophosphatasia
Authors: Witters Ingrid , Moerman Philippe , Mornet Etienne , Fryns Jean‐Pierre 
Published: August 2004

AbstractObjectivesHypophosphatasia is a rare heritable inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase defective bone mineralization due to mutations in the tissue‐non‐specific alkaline phosphatase (TNS‐ALP) gene. To date 128 mutations are described in the TNS‐ALP gene located on the short arm of chromosome 1. The clinical presentation of hypophosphatasia is variable ranging from early onset lethal short‐limb dwarfism to a late‐onset presentation with fractures in childhood or adulthood.MethodsWe report a pregnancy with a positive maternal serum triple test screening and a post‐mortem pathological and molecular diagnosis of perinatal lethal hypophosphatasia.ResultsTwo heterogeneous missense mutations in the TNS‐ALP gene were found, of which one was not previously described.ConclusionThis case report adds to the list of fetal malformations found after positive maternal serum triple test screening and reports a previously undescribed mutation in the TNS‐ALP gene responsible for hypophosphatasia. Copyright © 2004 John Wiley & Sons, Ltd.
Alphafoetoprotein and acetylcholinesterase in amniotic fluid as a factor suggesting fetal skin and nerve lesions in a case of congenital varicella syndrome
Authors: Mirlesse Véronique , Duguy Nathalie , Cynober Evelyne , François Magny Jean , Daffos Fernand 
Published: August 2004

AbstractBackgroundPrenatal care of pregnant women exposed to varicella skin rash during the first half of pregnancy remains a frequent concern in countries that do not have access to systematic vaccination. The frequency of maternofetal transmission is low. Ultrasound is the usual tool for prenatal survey of exposed fetuses. But many anomalies due to VZV infection are not accessible to ultrasound alone.Case ReportWe review a case in which the diagnosis of fetal infection suspected due to transient fetal bowel hyperechogenicity was confirmed in amniotic fluid by molecular biology (PCR).ResultsAn unusual elevation of alphafoetoprotein in maternal blood and in amniotic fluid was associated with inguinal skin, muscular and nerve destruction.ConclusionIn fetuses diagnosed with in utero varicella infection, in addition to a precise diagnosis and follow‐up, we suggest that elevated AFP levels in maternal blood and amniotic fluid together with the presence of acetylcholinesterase in amniotic fluid may be related to lesion of fetal skin and nerves. Copyright © 2004 John Wiley & Sons, Ltd.
Prenatal rupture of a left ventricular diverticulum: a case report and review of the literature
Authors: Bernasconi A. , Delezoide A. L. , Menez F. , Vuillard E. , Oury J. F. , Azancot A. 
Published: August 2004

AbstractCongenital left ventricular diverticulum is a rare malformation. We report a case of a ruptured congenital left ventricular diverticulum in a 24‐week‐old fetus. The fetus was referred for a large and circumferential pericardial effusion confirmed by cross‐sectional echocardiography in our tertiary fetal cardiology unit. Pericardiocentesis removed 25 mL of old hematic fluid. The fetus died 5 days later. The pathological examination showed a ruptured submitral fibrous diverticulum of the posterior wall of the left ventricle. There is no previous report in the literature of prenatal rupture of a cardiac diverticulum. The submitral location and the fibrous wall of the diverticulum is uncommon. As regards this case, we reviewed the diagnostic criteria and the outcome of 11 cases of prenatal cardiac diverticulum reported in the literature. Copyright © 2004 John Wiley & Sons, Ltd.
Unusual prenatal presentation of Beckwith–Wiedemann syndrome
Authors: Mulik V. , Wellesley D. , Sawdy R. , Howe D. T. 
Published: August 2004

AbstractWhen Beckwith–Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features. Copyright © 2004 John Wiley & Sons, Ltd.
Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience
Authors: Kyu Lim Chun , Hyun Jun Jin , Mi Min Dong , Lee Hyoung–Song , Young Kim Jin , Koong Mi Kyoung , Kang Inn Soo 
Published: August 2004

AbstractObjectiveTo evaluate the efficacy and clinical outcome of preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridization (FISH) for couples with chromosomal translocations.MethodsPGD using FISH was performed in 59 cycles of 43 couples with reciprocal translocations, and 11 cycles of 6 couples with Robertsonian translocations. The diagnostic and clinical data were reviewed in a series of 70 treatment cycles of 49 couples from January 2001 to June 2002 at Samsung Cheil Hospital, Korea.ResultsA total of 1408 oocytes were retrieved, and 938 (81.7%) out of 1148 matured oocytes were fertilized by intracytoplasmic sperm injection (ICSI). Single blastomere biopsy and FISH analysis were successfully carried out in 99.3% (890/896) and 94.4% (840/890), respectively. Among 193 normal or balanced embryos, 169 embryos were transferred in 64 cycles (91.4% per started cycle). Twenty clinical pregnancies including two ectopic pregnancies and three spontaneous miscarriages (28.6% per started cycle, 31.3% per transfer cycle, 40.8% per couple) were established. Of the three spontaneous miscarriages, one was karyotyped as normal, one had an unbalanced arrangement and one was tetraploid. One case of preterm twin delivery occurred and 16 healthy babies were delivered in 12 single and 2 twin pregnancies.ConclusionThe clinical outcome was successful in 28.6% (14/49) of the treated couples with translocations after PGD. The spontaneous abortion rate was significantly reduced from 95.8% (69/72) to 16.7% (3/18) in these couples. Copyright © 2004 John Wiley & Sons, Ltd.
Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach
Authors: Moutou Céline , Gardes Nathalie , Viville Stéphane 
Published: August 2004

AbstractMost of cystic fibrosis (CF) pre‐implantation genetic diagnosis (PGD) cases described to date are limited to the detection of ΔF508. Beside this predominant mutation, over 1000 mutations have been identified, rendering the development of a mutation‐based PGD protocol impracticable. This is the reason why we, as well as the others, have developed PGD strategies on the basis of the identification of the pathogenic haplotype instead of the mutation(s). In a previous article, we reported the conditions for the co‐amplification of two intragenic polymorphic markers and the F508 locus. Here we describe an improved protocol allowing the additional amplification of two new intragenic markers, intron 1 CA repeat (I1CA) and IVS17bTA. This new protocol should, theoretically, allow us to provide a diagnosis to all couples requiring PGD for CF. Using single lymphoblasts, we have tested four different PCR configurations, including one duplex, two triplexes and one quadruplex PCR. All of them gave results compatible with a clinical application. The number of single lymphoblasts tested in each series varied from 89 to 155. PCR efficiency ranged from 95.4 to 100%. A complete haplotype was achieved for 83.2 to 90.7% of the tested cells, with an allele drop out (ADO) rate comprised between 6.0 and 11.6%. We present here three cases that we performed either with the former test (one case using the triplex PCR combining F508, IVS8CA and IVS17bCA) or with the new one (one case using the triplex combining F508, I1CA and IVS17bTA and one case using a quadruplex test). We obtained two single pregnancies. Copyright © 2004 John Wiley & Sons, Ltd.
The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies
Authors: Rustico M. A. , Lalatta F. , Righini A. , Spaccini L. , Fabietti I. , Nicolini U. 
Published: August 2004

AbstractObjectivesFetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two‐dimensional ultrasound with the more recent three‐dimensional technique plus magnetic resonance imaging, in order to improve parents' understanding of fetal face anomalies, thereby facilitating parent counselling.MethodsTwo cases of fetal facial anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism.ResultsThe images generated by three‐dimensional ultrasound enabled the parents to visualize their child immediately and helped them to adjust to the diagnosis of facial defects and its clinical consequences.ConclusionsAn approach based on combined use of different imaging techniques was found useful in both cases. Copyright © 2004 John Wiley & Sons, Ltd.
Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester
Authors: Michel‐Calemard Laurence , Lesca Gaëtan , Morel Yves , Boggio Dominique , Plauchu Henri , Attia‐Sobol Jocelyne 
Published: August 2004

AbstractThis is the first report of a fetus affected with campomelic acampomelic dysplasia presenting with increased nuchal translucency. Ultrasonography at 13 weeks of amenorrhea showed a nuchal translucency 5.6 mm thick. The karyotype performed on amniotic fluid cells was normal (46,XY). Ultrasonography at 22 weeks revealed a normal femoral length and female genitalia. A second amniocentesis was performed to confirm the karyotype and for dosage of steroid hormones. Testosterone dosage was low, corresponding to a female fetus. Ultrasonography at 32 weeks showed growth retardation of the long bones (<3rd centile) that were not curved. A severe malformation syndrome was suspected and the pregnancy was terminated at 33 weeks. The fetus displayed macrocephaly, facial dysmorphism and female external genitalia. X ray showed straight and thickened long bones, hypoplastic scapulae and moderate platyspondyly. In view of the association of sex reversal, hypoplasia of the scapulae, and the presence of straight long bones, campomelic acampomelic dysplasia was suspected and confirmed by the finding of a SOX9 mutation. This case shows the importance of a careful echographic survey in a fetus with a nuchal translucency > 4 mm, especially if there is discordance between phenotypic and genotypic sex, since growth retardation may occur later during the pregnancy. Copyright © 2004 John Wiley & Sons, Ltd.