bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation at chromosome 11q23 in human non‐familial breast cancer: A microdissection microsatellite analysis
Authors: Koreth John , Bethwaite Peter B. , McGee James O' D. 
Published: June 2005

AbstractAllelotypic evaluation of loss of heterozygosity (LOH) has been instrumental in the identification of tumour suppressor genes. Here we report a high incidence of LOH at chromosome 11q23 in non‐familial breast cancers within situ, invasive, and metastatic tumour cells microdissected from archival haematoxylin and eosin (H & E) sections for polymerase chain reaction (PCR)‐LOH analysis at polymorphic microsatellite loci. Ninety‐four cases of non‐familial breast cancer were examined at the D11S29 microsatellite locus on chromosome 11q23. Eighty‐three cases (88 per cent) were informative and 35 cases overall (42 per cent) had LOH at this locus, comprising 23 per cent ofin situ, 36 per cent of invasive, and 28 per cent of metastatic cancers. The DNA from those cancer cells with LOH was amplified at microsatellite loci D11S554 (11p12–p11.2) and D11S534 (11q13). In 19 of 67 cases overall (28 per cent), LOH occurred solely at 11q23. There was an association between LOH at 11q23 and tumour size ≥2 cm (P<0.01) in the overall results and the invasive cancers. The data revealed heterogeneity for LOH at D11S29 inin situ, invasive, and metastatic cells from the same case. In general, however, there was concordance between LOH (or its absence) inin situand invasive disease. We conclude that the distal part of the long arm of chromosome 11 contains a region involved in breast carcinogenesis and that there is molecular heterogeneity at this chromosomal region in individual breast cancer cells.
Expression of the ret proto‐oncogene in phaeochromocytoma. An in situ hybridization and northern blot study
Authors: Matias‐Guiu Xavier , Colomer Anna , Mato Eugenia , Cuatrecasas Miriam , Komminoth Paul , Prat Jaime , Wolfe Hubert 
Published: June 2005

AbstractThe expression and distribution of ret proto‐oncogene mRNA were investigated in five phaeochromocytomas of both familial and sporadic types by in situ hybridization (ISH) using digoxigenin‐labelled cRNA probes and Northern blot (NB) analysis with random priming labelled cDNA probes. The probes corresponded to the tyrosine kinase domain of the gene. An excellent correlation was found between the ISH and NB results. By both techniques, the expression of the ret proto‐oncogene was detected in three of the five cases, two of four familial tumours, and the only sporadic tumour that was studied. The results confirm that ret is frequently expressed in phaeochromocytomas and suggest that it might be an important event in their development and/or progression.
A murine osteoblast cell line (MC3T3) produces A soluble elastogenic compound
Authors: Grosso Leonard E. , Lacey David L. 
Published: June 2005

AbstractElastofibromas are localized proliferations of mesenchymal cells that produce an exuberant amount of elastin‐rich extracellular matrix. Recently periosteal fibroblasts have been proposed to be the proliferating cell. The hypothesis has been tested that osteocytes or osteoblasts contribute to the formation of elastofibromas by secreting a compound(s) that enhances elastin production. Media conditioned by murine calvarial osteoblasts (MC3T3) increased tropoelastin synthesis in bovine ligamentum nuchae fibroblasts. Addition of MC3T3‐conditioned medium to bovine ligamentum nuchae fibroblast cultures produced a two‐fold increase in tropoelastin RNA. The maximal increase in tropoelastin RNA was between 16 and 24 h; tropoelastin mRNA had returned to control values by 40 h. A similar increase in tropoelastin protein production was detected. The soluble elastogenic compound was neither inteleukin‐1 (IL‐1) nor IL‐6. These results support the hypothesis that an interaction between bone and perosteum may be involved in the formation of elastofibromas.
Absence of p53 gene mutation and infrequent overexpression of p53 protein in hepatoblastoma
Authors: Chen Tse‐Ching , Hsieh Ling‐Ling , Kuo Tseng‐Tong 
Published: June 2005

AbstractTen cases of hepatoblastoma were studies for overexpression of p53 protein by immunohistochemistry and for possible p53 gene mutation by single strand conformation polymorphism (SSCP) analysis and direct DNA sequencing of the polymerase chain reaction products. Only one case of the macrotrabecular type at stage IV showed overexpression of p53 protein. No DNA mobility shift was found in any of the cases studies by SSCP analysis. DNA sequencing performed on the case showing overexpression of p53 protein revealed no mutation within exons 5 to 8. The associated adrenal cortical carcinoma of the same case also showed overexpression of p53 protein, but no mutation of the p53 gene. These results indicate that mutation of the p53 gene is infrequent in hepatoblastoma. This observation supports the view that mutation of the p53 gene is not as important in the oncogenesis of childhood neoplasms as in adult cancers.
Human malignant mesothelial cells: Variability of ultrastructural features in established and nude mice transplanted cell lines
Authors: Fleury‐Feith Jocelyne , Kheuang Laurence , Zeng Lin , Bignon Jean , Boutin Christian , Monnet Isabelle , Jaurand Marie‐Claude 
Published: June 2005

AbstractThe aim of this study was to determine, by transmission electron microscopy, the differentiation features of 21 human malignant mesothelioma cell lines (HMCLs) established from 13 specimens of 12 confirmed human malignant mesotheliomas, and of tumours induced in nude mice injected with 16 HMCLs. Fifty per cent of HMCLs showed typical mesothelial differentiation (long and slender microvilli, desmosomes, perinuclear intermediate filaments); 29 per cent did not show differentiation; and the remainder were poorly differentiated. Three human tumour specimens gave several different HMCLs; the cell lines obtained from a given tumour exhibited variable mesothelial differentiation. Eleven HMCLs were compared with the native tumour. Four were similar to the tumour and seven were less well differentiated, in most cases in relation to their microvilli. With six HMCLs, tumours induced in nude mice were less well differentiated than the corresponding cell lines, whereas with four HMCLs, tumours were equally or better differentiated. However, in most nude mice tumours, typical mesothelial microvilli were present. These results show that cell lines established from malignant mesothelioma may exhibit dedifferentiated features. However, while the variability in ultrastructural differentiation may result from the culture microenvironment, it could also be related to the state of differentiation, of the native tumour sample and to tumour cell heterogeneity.
Nuclear and cytoplasmic bcl‐2 expression in endometrial hyperplasia and adenocarcinoma
Authors: Chan W. Kong , Mole Margaret M. , Levison David A. , Ball Richard Y , Lu Qi‐Long , Patel Kirtika , Hanby Andrew M. 
Published: June 2005

AbstractThe bcl‐2 proto‐oncogene, which inhibits programmed cell death (apoptosis), has recently been found to be cyclically expressed in human endometrium. In order to investigate its role in endometrial hyperlasia and neoplasia, bcl‐2 expression was studied in 25 cases of endometrial carcinoma and 20 cases of endometrial hyperplasia (eight simple, two complex, and ten atypical hyperplasias). Uniform intense cytoplasmic bcl‐2 expression was found in all cases of non‐atypical hyperplasia, and less strong positivity in eight out of ten cases of atypical hyperplasia. In well‐differentiated carcinomas, nine out of ten showed weak to moderate bcl‐2 expression, whereas six out of seven poorly differentiated carcinomas were bcl‐2‐negative. Moderately differentiated tumours were an intermediate group, with six out of eight being positive. Widespread localization of bcl‐2 protein to the chromosomes of dividing cells was also demonstrated, regardless of cytoplasmic bcl‐2 expression, with rare staining of interphase nuclei. Our findings suggest a role for bcl‐2 in the natural history of endometrial neoplasia and studies are needed to determine its usefulness as a prognostic marker. The finding of bcl‐2 localization to chromosomes has important implications for its mode and site of action.
Differential expression of the c‐kit proto‐oncogene in germ cell tumours
Authors: Izquierdo Miguel A. , Van Der Valk Paul , Van Ark‐otte Jannette , Rubio Gonzalo , Germa‐Lluch Jose R. , Ueda Ryuzo , Scheper Rik J. , Takahashi Takashi , Giaccone Giuseppe 
Published: June 2005

AbstractThe c‐kit proto‐oncogene product and its ligand stem cell factor play an important role in haematopoiesis, spermatogenesis, and melanogenesis. Using an anti‐c‐kit antiserum raised against a synthetic peptide, we studied the immunohistochemical expression of the c‐kit gene product in 60 germ cell tumours (GCTs) (53 testicular, 7 extragonadal), derived from primary GCTs in 45 cases and metastatic tumours in 15 cases. Twenty‐eight out of 28 seminomas showed c‐kit membranous staining in the majority of cells. A similar pattern of expression was seen in intratubular germ cell neoplasia. Nine out of 29 (32 per cent) non‐seminomas displayed cytoplasmic, but not membranous, c‐kit immunoreactivity in occasional cells. In three mixed GCTs, c‐kit expression was limited to the seminoma component. In normal testis, c‐kit expression was observed in some basal tubular cells, corresponding to undifferentiated spermatogonia. These results suggest a role for c‐kit in the oncogenesis of GCT, where down‐regulation of c‐kit might be a critical step during progression from seminomas to non‐seminomas. Immunohistochemical analysis of c‐kit should be considered as a diagnostic aid for GCT and in particular may be helpful in the identification of certain extragonadal seminomas.
Role of endothelial cells in the development of glomerular lesions of mesangiocapillary glomerulonephritis
Authors: Muda Andrea Onetti , Feriozzi Sandro , Crescenzi Anna , Faraggiana Tullio 
Published: June 2005

AbstractThe histological and ultrastructural changes of mesangiocapillary glomerulonephritis (MCGN) are not unique to this entity: splitting of basement membrane (BM) is seen in a number of conditions with an altered coagulation pattern. The distribution of endothelial cells in the glomerular capillaries in five cases of MCGN was studied by light and electron microscopy and immunocytochemistry; endothelial cells were stained with peroxidase or FITC‐conjugated antibodies against Factor VIII‐related antigen or CD34 antigen and observed with conventional light/immunofluorescence microscopy and confocal laser scanning microscopy for three‐dimensional reconstruction. Electron microscopy was performed with colloidal gold labelling. Endothelial cells were shown to be present within the duplicated basement membranes of capillaries and continuity was demonstrated with endothelial cells lining the capillary lumina. These results suggest that endothelial cells as well as mesangial cells can participate in the formation of the characteristic double contour of capillary walls in MCGN, especially in the early stages. There are some similarities to the changes seen in larger arteries as a consequence of thrombotic disease.
Quantitation and prognostic value of breast cancer angiogenesis: Comparison of microvessel density, Chalkley count, and computer image analysis
Authors: Fox Stephen B. , Leek Russel D. , Weekes Michael P. , Whitehouse Ruth M. , Gatter Kevin C. , Harris Adrian L. 
Published: June 2005

AbstractIn some studies of breast cancer, quantitation of immunohistochemically highlighted microvessel ‘hot spots’ has been shown to be a powerful prognostic tool. However, the antibody used, the number and size of the ‘hot spots’ assessed, and the stratification of patients into high and low vascular groups vary between studies. Furthermore, little is known about the relationship between microvessel density and other vascular parameters. These uncertainties and the laborious nature of the technique make it unsuitable for diagnostic practice. Both manual and computerized image analysis techniques were used in this study to examine the relationship between microvessel density and the vascular parameters in different sized microscopic fields in a pilot series of 30 invasive breast carcinomas. Automated pixel analysis of immunohistochemical staining, Chalkley point counting, and observer subjective vascular grading were also assessed as more rapid methods of measuring tumour vascularity. A Chalkley count was also performed on a further 211 invasive breast carcinomas. Significant correlations were observed between manual microvessel density and luminal perimeter (r=0·6, P=0·0004), luminal area (r=0·56, P=0·002), and microvessel number (r=0·57, P=0·0009) by computerized analysis. There were also significant correlations between the microscopic hot spots of 0·155 mm2 and 0.848 mm2 for microvessel number (r=0·81, P>0·00005), luminal perimeter (r=0·78, P<0·00005), and luminal area (r=0·65, P=0·0001). In addition, a significant correlation was observed between microvessel density and both subjective vascular grade (P=0·002) and Chalkley count (P=0·0001). A significant reduction in overall survival was observed between patients stratified by Chalkley count in both a univariate (P=0·02) and a multivariate (P=0·05) analysis in the 211 invasive breast carcinomas. These findings show that Chalkley counting is a rapid method of quantifying tumour angiogenesis and gives independent prognostic information which might be useful in diagnostic practice.
Palladium‐catalyzed three‐component coupling polycondensation of aromatic diiodide, aromatic bis(boronic acid propanediol ester), and norbornadiene: A new route for poly(p‐phenylene vinylene)
Authors: Ishibe Satoko , Tomita Ikuyoshi 
Published: June 2005

AbstractA novel synthetic method for soluble precursor polymers of poly(p‐phenylene vinylene) (PPV) derivatives by the palladium‐catalyzed three‐component coupling polycondensation of aromatic diiodides, aromatic bis(boronic acid) derivatives, and norbornadiene is described. For example, the polymerization of 1,4‐diiodo‐2,5‐dioctyloxybenzene, benzene‐1,4‐bis(boronic acid propanediol ester), and norbornadiene at 100 °C for 3 days provided a polymer consisting of the three monomer units in a 97% yield (number‐average molecular weight = 3100, weight‐average molecular weight/number‐average molecular weight = 1.37). A derivative of PPV was produced smoothly by the retro Diels–Alder reaction of the polymer both in a dodecyloxybenzene solution and in a film at 200 °C in vacuo. © 2005 Wiley Periodicals, Inc. J Polym Sci Part A: Polym Chem 43: 3403–3410, 2005
Modeling of the linear viscoelastic behavior of low‐density polyethylene
Authors: Stanescu P. , Majesté J. C. , Carrot C. 
Published: June 2005

AbstractWe predict the linear viscoelastic behavior of low‐density polyethylene from both the molecular‐weight distribution and the individual structure of each species in the sample. The “structure map” of the samples was derived from SEC measurements. This map is a three‐dimensional representation of the seniority distribution, and represents the probability of existence of a segment with seniority i in a molecule of molecular weight M. Moreover, results from the kinetics of the free radical polymerization of polyethylene show that the molecular weight of the segments increases according to their seniority. Finally, tube dilatation was generalized to the case of polydisperse samples. The solvent behavior of the relaxed segments was included through a continuous function of time that describes the instantaneous state of the entanglement network in the sample. The comparison between the theoretical predictions and the experimental data shows a good agreement over the whole experimental frequency range. © 2005 Wiley Periodicals, Inc. J Polym Sci Part B: Polym Phys 43:1973–1985, 2005
Formation of new banded spherulites in polyimides
Authors: Liu Xikui , Tang Jialing , Zheng Yuanyuan , Gu Yi 
Published: June 2005

AbstractThe crystalline morphology and structural development of aromatic polyimides during an optimum continuous thermal imidization procedure were examined by means of polarized optical microscopy and X‐ray diffraction. During thermal imidization, 3,3′,4,4′‐benzophenonetetracarboxylic dianhydride/1,3‐diaminobenzene polyimide samples formed complicated spherulites, which, in addition to zigzag Maltese crosses, also showed concentric extinction rings, which are characteristic of banded spherulites. The factors affecting the formation of banded spherulites were studied. The initial imidization conditions dramatically affected the formation of the banded spherulite morphology: slow heating (0.5 °C/min) or fast heating (20 °C/min) led to relatively small polyimide spherulites and less identifiable extinction rings. The morphological features were also affected by the molecular weight of the polyimide: higher molecular weight samples showed typical banded spherulites, whereas low‐molecular‐weight samples formed degenerated banded spherulites. In all the spherulites formed in 3,3′,4,4′‐benzophenonetetracarboxylic dianhydride/1,3‐diaminobenzene polyimides, special zigzag Maltese crosses, instead of normal Maltese crosses, were observed. The relationship between the imidization procedure and the spherulite morphology formation was also studied. X‐ray and Fourier transform infrared together revealed that after several minutes of thermal treatment, the crystallization was nearly complete, with a 42.5% degree of crystallinity; meanwhile, only some poly(amic acid) converted to the corresponding polyimide, with a 27% degree of imidization. The crystalline morphology and structure formed in the initial stage of the imidization process were maintained during the following imidization processing at an elevated temperature. © 2005 Wiley Periodicals, Inc. J Polym Sci Part B: Polym Phys 43: 1997–2004, 2005
Factors that influence Spanish‐ and English‐speaking participants' decision to enroll in cancer randomized clinical trials
Authors: Ellington Lee , Wahab Stephanie , Sahami Martin Shadi , Field Rosemary , Mooney Kathleen H. 
Published: June 2005

AbstractCancer randomized clinical trial (RCT) participation is low, particularly among ethnic and racial minorities. Hispanic enrollment is far below their representation in the US population, yet their cancer burden is higher. Little is known from the patient perspective about factors which influence the decision to enroll in RCTs. We asked Spanish‐ and English‐speaking individuals what factors influence decisions about cancer RCT participation. Eight focus groups were conducted with 55 participants (25 Spanish and 30 English‐speaking). The groups were taped, transcribed, and analyzed for themes. Six major themes emerged: patient–provider communication, personal relationship with provider, involvement of significant others in decision making, role of faith, need for information, and impact of discrimination on decision making. Both similarities (e.g. need for comprehensive information) and differences (e.g. need for provider acknowledgement of emotional and spiritual concerns) were found between Spanish‐ and English‐speaking participants. Among Spanish‐speaking participants, level of education was differentially related to decision‐making themes. Implications for providers are discussed. Copyright © 2005 John Wiley & Sons, Ltd.
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex
Authors: Robinson B. H. , MacKay N. , Chun K. , Ling M. 
Published: June 2005

SummaryThe most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X‐linked E1α gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate‐sensitive ataxia, can be different in males and females depending on the nature of the mutation and, in the case of females, on the X‐inactivation pattern in different tissues. Males have a high representation of missense mutations among the patient cohort, while females are much more likely to have DNA rearrangements, particularly toward the 3′ end of the coding sequence of the gene. Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin‐responsiveness of the enzyme and the patient's clinical symptoms.Pyruvate carboxylase deficiency, on the other hand, is a true autosomal recessive disease, though it has high occurrences in particular ethnic groups, especially in Algonkian‐speaking Amerindians and in Arabs. In the former group the defect is a simple type in which material cross‐reactive to pyruvate carboxylase antibody is present in cultured cells (CRM+ve). In the latter group, cross‐reacting material is rarely present (CRM−ve). The CRM+ve patients can survive into teenage years with careful supervision, while the CRM−ve patients have complications due to hyperammonaemia and dysfunction of the urea cycle and rarely survive beyond 3 months of life.
Disorders of gluconeogenesis
Authors: van den Berghe G. 
Published: June 2005

SummaryGluconeogenesis, or the formation of glucose from mainly lactate/pyruvate, glycerol and alanine, plays an essential role in the maintenance of normoglycaemia during fasting. Inborn deficiencies are known of each of the four enzymes of the glycolytic — gluconeogenic pathway that ensure a unidirectional flux from pyruvate to glucose: pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose‐1,6‐bisphosphatase, and glucose‐6‐phosphatase. In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose‐1,6‐bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.
Clinical presentation of mitochondrial disorders in childhood
Authors: Munnich A. , Rötig A. , Chretien D. , Cormier V. , Bourgeron T. , Bonnefont J. ‐P. , Saudubray J. ‐M. , Rustin P. 
Published: June 2005

SummaryRespiratory‐chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e. adenosine triphosphate (ATP) synthesis by the respiratory chain, does not occur only in the neuromuscular system. Indeed, a number of non‐neuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory‐chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, owing to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA, mtDNA). In recent years, it has become increasingly clear that genetic defects of oxidative phosphorylation account for a large variety of clinical symptoms in childhood. Among 100 patients with respiratory‐chain deficiencies identified in our centre, 56% presented with a non‐neuromuscular symptom and 44% were referred for a neuromuscular problem. It appears that the diagnosis of a respiratory‐chain deficiency is difficult initially when only one symptom is present. In contrast, this diagnosis is easier to consider when two seemingly unrelated symptoms are observed
5,10‐Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case
Authors: Haan E. A. , Rogers J. G. , Lewis G. P. , Rowe P. B. 
Published: June 2005

AbstractWe report the case of a boy with 5,10‐methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1/2 years of age. The main biochemical findings were homocystinaemia, homocystinuria, a normal methionine level in plasma and cerebrospinal fluid, an increased excretion of methionine in urine and a very low level of folate in the cerebrospinal fluid. The activity of 5,10‐methylenetetrahydrofolate reductase was greatly reduced in the patient's lymphocytes and liver.