bluuebunny/crossref_metadata_2025_split huggingface dataset:
TGFBR1*6A and Cancer Risk: A Meta-Analysis of Seven Case-Control Studies
Authors: Kaklamani Virginia G. , Hou Nanjiang , Bian Yiansong , Reich Jennifer , Offit Kenneth , Michel Loren S. , Rubinstein W.S. , Rademaker Alfred , Pasche Boris 
Published: August 2003

Purpose: TGFBR1*6A is a hypomorphic polymorphic allele of the type I transforming growth factor beta receptor (TGFBR1). TGFBR1*6A is a candidate tumor susceptibility allele that has been associated with an increased incidence of various types of cancer. This study was undertaken to analyze all published case-control studies on TGFBR1*6A and cancer and determine whether TGFBR1*6A is associated with cancer. Patients and Methods: All published case-control studies assessing the germline frequency of TGFBR1*6A were included. Studies assessing TGFBR1*6A in tumors were excluded. The results of seven studies comprising 2,438 cases and 1,846 controls were pooled and analyzed. Results: Overall, TGFBR1*6A carriers have a 26% increased risk of cancer (odds ratio [OR], 1.26; 95% confidence interval [CI], 1.07 to 1.49). Cancer risk for TGFBR1*6A homozygotes (OR, 2.53; 95% CI, 1.39 to 4.61) is twice that of TGFBR1*6A heterozygotes (OR, 1.26; 95% CI, 1.04 to 1.51). Analysis of various types of tumors shows that TGFBR1*6A carriers are at increased risk of developing breast cancer (OR, 1.48; 95% CI, 1.11 to 1.96), hematological malignancies (OR, 1.70; 95% CI, 1.13 to 2.54), and ovarian cancer (OR, 1.53; 95% CI, 1.07 to 2.17). Carriers of TGFBR1*6A who are from the United States are at increased risk of colorectal cancer (OR, 1.38; 95% CI, 1.02 to 1.86). However, Southern European TGFBR1*6A carriers have no increased colorectal cancer risk. There is no association between TGFBR1*6A and bladder cancer. Conclusion: TGFBR1*6A is emerging as a highfrequency, low-penetrance tumor susceptibility allele that predisposes to the development of breast, ovarian, and colorectal cancer, as well as hematologic malignancies.
Cisplatin Plus Gemcitabine Versus a Cisplatin-Based Triplet Versus Nonplatinum Sequential Doublets in Advanced Non–Small-Cell Lung Cancer: A Spanish Lung Cancer Group Phase III Randomized Trial
Authors: Alberola V. , Camps C. , Provencio M. , Isla D. , Rosell R. , Vadell C. , Bover I. , Ruiz-Casado A. , Azagra P. , Jiménez U. , González-Larriba J.L. , Diz P. , Cardenal F. , Artal A. , Carrato A. , Morales S. , Sánchez J.J. , de las Peñas R. , Felip E. , López-Vivanco G. 
Published: August 2003

Purpose: To compare the survival benefit obtained with cisplatin plus gemcitabine, a cisplatin-based triplet, and nonplatinum sequential doublets in advanced non–small-cell lung cancer (NSCLC). Patients and Methods: Stage IIIB to IV NSCLC patients were randomly assigned to receive cisplatin 100 mg/m2 day 1 plus gemcitabine 1,250 mg/m2 days 1 and 8, every 3 weeks for six cycles (CG); cisplatin 100 mg/m2 day 1 plus gemcitabine 1,000 mg/m2 and vinorelbine 25 mg/m2 days 1 and 8, every 3 weeks for six cycles (CGV); or gemcitabine 1,000 mg/m2 plus vinorelbine 30 mg/m2 days 1 and 8, every 3 weeks for three cycles, followed by vinorelbine 30 mg/m2 days 1 and 8 plus ifosfamide 3 g/m2 day 1, every 3 weeks for three cycles (GV–VI). Results: Five hundred fifty-seven patients were assigned to treatment (182 CG, 188 CGV, 187 GV–VI). Response rates were significantly inferior for the nonplatinum sequential doublet (CG, 42%; CGV, 41%; GV–VI, 27%; CG v GV–VI, P = .003). No differences in median survival or time to progression were observed. Toxicity was higher for the triplet: grade 3 to 4 neutropenia (GC, 32%; CGV, 57%; GV–VI, 27%; P < .05); neutropenic fever (CG, 4%; CGV, 19%; GV–VI, 5%; P < .0001); grade 3 to 4 thrombocytopenia (CG, 19%; CGV, 23%; GV–VI, 3%; P = .0001); and grade 3 to 4 emesis (GC, 22%; GCV, 32%; GV–VI, 6%; P < .0001). Conclusion: On the basis of these results, CG remains a standard regimen for first-line treatment of advanced NSCLC.
Loss of p16 Expression Is of Prognostic Significance in Locally Advanced Prostate Cancer: An Analysis From the Radiation Therapy Oncology Group Protocol 86–10
Authors: Chakravarti A. , Heydon K. , Wu C.L. , Hammond E. , Pollack A. , Roach M. , Wolkov H. , Okunieff P. , Cox J. , Fontanesi J. , Abrams R. , Pilepich M. , Shipley W. 
Published: August 2003

Purpose: The retinoblastoma (RB) cell cycle regulatory pathway is known to be deregulated in virtually all known human tumors. The protein product of the RB gene, pRB, and its upstream regulator, p16, are among the most commonly affected members of this pathway. We investigated the prognostic significance of both pRB and p16 expression in locally advanced prostate cancers, from patients treated on the Radiation Therapy Oncology Group (RTOG) protocol 86–10. Materials and Methods: Sixty-seven cases from RTOG 86–10 had immunohistochemically stained slides, judged interpretable for both p16 and pRB, available for analysis. Median follow-up was 8.9 years (range, 6.0 to 11.8 years) for surviving patients. Staining for each marker was then correlated with overall survival, local progression, distant metastasis, and disease-specific survival. Results: Loss of p16 expression, as defined by expression was significantly associated with reduced overall survival (P = .039), disease-specific survival (P = .006), and higher risk of local progression (P = .0007) and distant metastasis (P = .026) in the univariate analysis. In the multivariate analysis, loss of p16 was significantly associated with reduced disease-specific survival (P = .0078) and increased risk of local failure (P = .0035) and distant metastasis (P = .026). A borderline association with reduced overall survival (P = .07) was also evident. Loss of pRB was associated with improved disease-specific survival on univariate (P = .028) and multivariate analysis (P = .043), but carried no other significant outcome associations. Conclusion: Loss of p16 is significantly associated with adverse clinical outcome in cases of locally advanced prostate cancer.
Identifying Psychosocial Risk Indicative of Subsequent Resource Use in Families of Newly Diagnosed Pediatric Oncology Patients
Authors: Kazak Anne E. , Cant M. Catherine , Jensen Merritt M. , McSherry Mary , Rourke Mary T. , Hwang Wei-Ting , Alderfer Melissa A. , Beele David , Simms Steven , Lange Beverly J. 
Published: August 2003

Purpose: The primary purpose of this prospective study was to identify the level of risk for psychosocial distress in families of children newly diagnosed with cancer. Additional study aims were to examine concordance among family and staff reports of psychosocial risk, changes in risk status over time, and to predict the use of psychosocial resources during the first months of treatment. Patients and Methods: Caregivers of 125 children newly diagnosed with cancer completed the Psychosocial Assessment Tool (PAT) at diagnosis (t1) and 3 to 6 months later (t2). Primary oncologists and nurses completed an analogous measure of perceived family psychosocial risk at t1 and t2. At t2, oncology social workers reported types and intensity of psychosocial interventions provided. Results: The PAT identified three subsets of families who presented with increasing levels of psychosocial risk at diagnosis. In general, there was moderate concordance among family, oncologist, and nurse reports of psychosocial risk. PAT scores at t1 predicted t2 PAT scores and psychosocial resource use at t2 beyond demographic or disease factors. Conclusion: A brief screening tool (PAT) is valuable in identifying psychosocial risk factors at diagnosis and is predictive of later use of psychosocial resources. As a next step in this research, the development of psychosocial interventions to match family risk level may be an effective and cost-efficient approach to working with families to address their concerns and promote short- and long-term adjustment.
Investigation of the Correlation between Texture and Microstructure on a Submicrometer Scale in the TEM
Authors: Zaefferer S. 
Published: August 2003

AbstractIn recent years the investigation of local texture and microstructure by analysis of electron backscatter diffraction patterns (EBSP) in the SEM has become a very powerful and popular method. With the introduction of SEM with field emission guns (FEG) the spatial resolution of EBSP measurements could be enhanced from 500 nm with a tungsten emitter to better than 50 nm. This evolution of SEM techniques raises the question whether transmission electron microscopy (TEM) still has fields of application in texture research. The present article answers this question with a clear “yes” and presents three examples of investigations where TEM is indispensable. The three examples comprise the investigation of the correlation between dislocation structure and deformation texture, a study on nucleation mechanisms of recrystallization in highly deformed metals and the investigation of microtexture and microstructure in nanocrystalline materials. Together with the presentation of these cases some of the necessary measurement techniques are described briefly. It is shown that TEM has to be applied when highest spatial resolution of orientation determination and imaging and high accuracy of orientation determination are to be reached, when the three‐dimensional and quantitative characterization of lattice defects is required or when materials with a high density of lattice defects are to be investigated.
Inorganic–Organic Hybrid Polymers for Information Technology: from Planar Technology to 3D Nanostructures
Authors: Houbertz R. , Fröhlich L. , Popall M. , Streppel U. , Dannberg P. , Bräuer A. , Serbin J. , Chichkov B.N. 
Published: August 2003

AbstractSol‐gel synthesis allows inorganic–organic hybrid polymer materials (ORMOCER®s) to be produced, which can be functionalized to tailor their physical and chemical properties such as refractive index or optical loss. A particular material system is discussed here, which is synthesized without addition of water and is applied in optical communications. As examples for 2D and 2.5D technology, planar waveguides, stacked waveguides, and microlenses are shown. Using two‐photon polymerization initiated by femtosecond laser pulses, arbitrary 3D structures can be made in the submicrometer range. In particular, 3D photonic crystal structures are described and discussed.
Ordered Structures from Nanoparticles
Authors: Anselmann R. , Winkler H. 
Published: August 2003

AbstractIn nature many colors arise from ordered structures with periodicities in the submicron range. One prominent example is the gemstone opal. We discuss the origin of the brillant colors of opal and its artificial counterparts: colloidal crystals and three dimensional photonic crystals. In addition we point out possibilities how to prepare colloidal crystals and related materials with inverted structure. Such materials show promising characteristics for innovative future developments in the fields of opitcs.
Carbon Nanotubes for Cold Electron Sources
Authors: Gröning P. , Ruffieux P. , Schlapbach L. , Gröning O. 
Published: August 2003

AbstractTechnological advances in the field of microelectronic fabrication techniques have triggered a great interest in vacuum microelectronics. In contrast to solid‐state microelectronics, which entails scattering‐dominated electron transport in semiconducting solids, vacuum microelectronics relies on the scattering‐free, ballistic motion of electrons in vacuum. Since the first international conference on vacuum microelectronics substantial progress in this field has been made. The first technological devices using micrometer‐sized electron emitting structures are currently being commercialized. Field‐emission flat‐panel displays (FED) seem to be an especially promising competitor to LCD displays. Today there is only one mature technology for producing micro‐gated field‐emission arrays: the Spindt metal‐tip process. The drawbacks of this technology are expensive production, critical lifetime in vacuum, and high operating voltage. Carbon nanotubes (CNT) can be regarded as the potential second‐generation technology to the Spindt metal micro‐tip. In this review we show that the field emission (FE) behavior of CNT can be accurately described by Fowler–Nordheim tunneling and that the field‐enhancement factor β is the most prominent factor. Therefore the FE properties of a CNT thin film can be understood in terms of local field enhancement β(x,y), which can be determined with scanning anode field emission microscopy (SAFEM). To characterize the FE properties of an ensemble of electron emitters we used a statistical approach (as for thin film emitters), where f(β)dβ gives the number of emitters on a unit area with field‐enhancement factors within the interval [β,β + dβ]. We show that the field‐enhancement distribution function f(β) gives an almost complete characterization of the FE properties.
Acute leukemia and myelodysplasia in patients with a Philadelphia chromosome negative chronic myeloproliferative disorder treated with hydroxyurea alone or with hydroxyurea after busulphan
Authors: Nielsen Iben , Hasselbalch Hans Carl 
Published: August 2003

AbstractEighty‐three patients with various chronic myeloproliferative disorders [polycythemia vera (PV), essential thrombocytosis (ET), idiopathic myelofibrosis (IMF)] were analyzed for the occurrence of acute myeloid leukemia (AML) and myelodysplasia (MDS) during treatment with hydroxyurea (HU) alone or HU following treatment with busulphan (BU). A total of 58 patients (29 PV, 14 ET, 12 IMF, 3 unclassified) had been treated with HU. Thirty‐five of these patients had been treated with HU alone whereas 18 patients had received both HU and BU. The follow‐up period was 7.8 years. Twenty‐five patients had not been treated with HU. In this patient group, 4 patients had been treated with BU. The follow‐up period was 10.5 years. In the HU‐treated group (n = 58) 7 patients developed AML and 5 patients MDS. Five of the 12 patients had been treated with HU alone, and 4 patients had received both HU and BU. In the non‐HU‐treated group (n = 25) 1 patient with PV developed acute myeloid leukemia (AML). This patient had only been treated with phlebotomies. It is concluded that treatment with HU is leukemogenic, with an incidence of AML and MDS of approximately 14% when used alone. The incidence is markedly increased to about 30% when HU is preceded by treatment with BU. HU is not recommended for use in younger patients, in whom non‐leukemogenic agents such as α‐interferon and anagrelide should be used instead. Am. J. Hematol. 74:26–31, 2003. © 2003 Wiley‐Liss, Inc.
Comparison of diagnostic criteria for disseminated intravascular coagulation (DIC): diagnostic criteria of the International Society of Thrombosis and Hemostasis (ISTH) and of the Japanese Ministry of Health and Welfare for overt DIC
Authors: Wada Hideo , Gabazza Esteban C. , Asakura Hidesaku , Koike Kaoru , Okamoto Kohji , Maruyama Ikurou , Shiku Hiroshi , Nobori Tsutomu 
Published: August 2003

AbstractWe compared the criteria set by the International Society of Thrombosis and Hemostasis (ISTH) for the diagnosis of disseminated intravascular coagulation (DIC) with the criteria of the Japanese Ministry of Health and Welfare (JMHW) set for the diagnosis of overt DIC. We studied 1,284 Japanese patients with DIC. The rate of agreement in the diagnosis of DIC by the two diagnostic systems was 67.4%. In addition, only 2.0% of non‐DIC patients by JMHW criteria were diagnosed with overt DIC by ISTH criteria, suggesting that ISTH for overt DIC includes typical cases of DIC. The concordance of diagnosis for DIC by ISTH and JMHW was significantly high in patients with trauma or acute promyelocytic leukemia. About 70% of DIC or overt DIC patients had more than 1 point in the scoring system for prothrombin time, but >50% of those patients had 0 point for plasma fibrinogen level. Abnormal fibrin and fibrinogen degradation product (FDP) levels and platelet counts were observed in >88% of DIC and overt DIC patients but were observed in >50% of non‐DIC patients, indicating that these parameters are sensitive markers but not specific markers for the diagnosis of DIC. Considered together, our results suggest that the diagnostic criteria for DIC and overt DIC could be improved by changing the cut‐off values of the global coagulation tests. Am. J. Hematol. 74:17–22, 2003. © 2003 Wiley‐Liss, Inc.
Complete remission in advanced blastic NK‐cell lymphoma/leukemia in elderly patients using the hyper‐CVAD regimen
Authors: Shapiro Michael , Wasik Mariusz A. , Junkins‐Hopkins Jacqueline M. , Rook Alain H. , Vittorio Carmela C. , Itakura Haruka , Frankel Matthew C. , Georgala Sofia , Schuster Stephen J. 
Published: August 2003

AbstractAlthough its cell of origin is still controversial, the blastic NK‐cell leukemia/lymphoma clearly represents a distinct type of hematopoietic neoplasm that is particularly clinically aggressive when it occurs in elderly patients as a disseminated, multi‐organ disease. Consistently effective treatments have not been developed for this malignancy. The present report describes two elderly patients with widespread blastic NK‐cell leukemia/lymphoma involving the skin, bone marrow, peripheral blood, lymph nodes, and viscera. In both cases the malignant cells were CD56+, CD2+, and terminal deoxynucleotidyl transferase (TdT) positive with no detectable T‐cell receptor (TCR) γ chain gene rearrangement. The cells also exhibited a low CD45 expression and strong CD99 (mic‐2) expression, as seen in immature lymphoid malignancies. The above findings support the precursor NK‐cell, rather than mature NK‐ or non‐NK‐cell, origin of the malignant cells. It is noteworthy that the two patients achieved complete responses to treatment with hyper‐CVAD (fractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone) alternating with high‐dose methotrexate/cytarabine, a regimen currently utilized in acute lymphoblastic leukemia and high‐grade lymphoma. The complete remission (CR) was sustained for 24 months in one patient who received four cycles (eight courses) of the treatment. It lasted 9 months in the second patient, who received only two cycles (four courses). If similar results are obtained with future patients, a randomized study comparing the hyper‐CVAD regimen to other therapeutic strategies may be warranted. Am. J. Hematol. 74:46–51, 2003. © 2003 Wiley‐Liss, Inc.
Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndrome
Authors: Langius Fernanda A.A. , Waterham Hans R. , Romeijn Gerrit Jan , Oostheim Wendy , de Barse Martina M.J. , Dorland Lambertus , Duran Marinus , Beemer Frits A. , Wanders Ronald J.A. , Poll‐The Bwee Tien 
Published: August 2003

AbstractSmith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by mental retardation, congenital anomalies, and growth deficiency. The syndrome is caused by a block in cholesterol biosynthesis at the level of 7‐dehydrocholesterol reductase (7‐DHCR), which results in elevated levels of the cholesterol precursor 7‐dehydrocholesterol (7‐DHC) and its isomer 8‐dehydrocholesterol (8‐DHC). We report on three patients from two families with a very mild clinical presentation of SLOS. Their plasma cholesterol values were normal and their plasma levels of 7‐ and 8‐ DHC were only slightly elevated. In cultured skin fibroblasts, a significant residual 7‐DHCR activity was found. All three patients were compound heterozygotes for a novel mutation affecting translation initiation (M1L). Two of them had the common IVS8‐1G>C null mutation and the third patient an E448K mutation in the 7‐DHCR gene. Our findings emphasize the importance of using a sensitive method for measuring precursors of cholesterol in combination with mutation analysis to analyze patients with only minimal clinical SLOS‐like signs. © 2003 Wiley‐Liss, Inc.
Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis
Authors: Loesch D.Z. , Huggins R.M. , Bui Q.M. , Taylor A.K. , Pratt C. , Epstein J. , Hagerman R.J. 
Published: August 2003

AbstractThe effect of the fragile X pre‐mutation and full mutation categories, and FMRP deficits in these categories, on neurocognitive status, have been assessed in fragile X individuals from 144 extended families, which included fragile X individuals, as well as their non‐fragile X relatives. Neuropsychological status was assessed by the Wechsler summary and subtest test scores. A modification of the maximum likelihood estimators for pedigree data that is resistant to outliers was used to analyze the data. The results have demonstrated the effect of large expansions of CGG repeat in the FMR1 (fragile X mental retardation 1) gene (full mutation) in decreasing full scale IQ (FSIQ), as well as several FSIQ‐adjusted subtest scores in the performance domain. Moreover, the results have demonstrated significant cognitive deficits in male individuals with pre‐mutation. FMRP depletion correlates strongly with neurocognitive status in the full mutation subjects. Evidence for the effect of FMRP in smaller expansions (pre‐mutation) in reducing FSIQ, Performance and Verbal scores, as well as subtest scores in males, has also been obtained. The results are also suggestive of factors other than FMRP deficit which may determine some specific cognitive deficits in fragile X pre‐mutation carriers. Genetic variance estimated from the models accounts for less than half of the total variance in FSIQ, and it varies widely between individual Wechsler subtests. © 2003 Wiley‐Liss, Inc.
PEHO and PEHO‐like syndromes: Report of five Australian cases
Authors: Field M.J. , Grattan‐Smith P. , Piper S.M. , Thompson E.M. , Haan E.A. , Edwards M. , James S. , Wilkinson I. , Adès L.C. 
Published: August 2003

AbstractPEHO syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Few patients fulfilling the diagnostic criteria for PEHO syndrome have been reported outside Finland. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions (often with a hypsarrhythmic EEG pattern), transient or persistent peripheral oedema, and optic atrophy. Cerebellar and brainstem atrophy are usually present on neuroimaging. A PEHO‐like syndrome has been described, in which the affected individuals have neither optic atrophy nor the typical neuroradiological findings. We report five Australian patients, the first with classical features of PEHO syndrome, and four who have a PEHO‐like disorder. We compare their features with other published cases. We suggest that PEHO or a PEHO‐like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder. © 2003 Wiley‐Liss, Inc.
Localization of a non‐syndromic X‐linked mental retardation gene (MRX80) to Xq22‐q24
Authors: Verot Lucie , Alloisio Nicole , Morlé Laurette , Bozon Muriel , Touraine Renaud , Plauchu Henri , Edery Patrick 
Published: August 2003

AbstractIsolated mental retardation is clinically and genetically heterogenous and may be inherited in an autosomal dominant, autosomal recessive, or X‐linked manner. We report here a linkage analysis in a large family including 15 members, 6 of whom presenting X‐linked non‐syndromic mental retardation (MRX). Two‐point linkage analysis using 23 polymorphic markers covering the entire X chromosome demonstrated significant linkage between the causative gene and DXS8055 with a maximum LOD score of 2.98 at θ = 0.00. Haplotype analysis indicated location for the disease gene in a 23.1 cM interval between DXS1106 and DXS8067. This MRX localization overlaps with 7 XLMR loci (MRX23, MRX27, MRX30, MRX35, MRX47, MRX53, and MRX63). This interval contains two genes associated with non‐syndromic mental retardation (NSMR), namely the PAK3 gene, encoding a p21‐activated kinase (MRX30 and MRX47) and the FACL4 gene encoding a fatty acyl‐CoA ligase (MRX63). As skewed X‐inactivation, an apparently constant feature in FACL4 carrier females was not observed in an obligate carrier belonging to the MRX family presented here, the PAK3 gene should be considered as the strongest candidate for this MRX locus. © 2003 Wiley‐Liss, Inc.