bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal dominant syndrome resembling Coffin–Siris syndrome
Authors: Flynn Maureen A. , Milunsky Jeff M. 
Published: May 2006

AbstractCoffin–Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin–Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin–Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin–Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin–Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. © 2006 Wiley‐Liss, Inc.
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population
Authors: Itoh Taichi , Shirahama Shuya , Nakashima Eiji , Maeda Koichi , Haga Nobuhiko , Kitoh Hiroshi , Kosaki Rika , Ohashi Hirofumi , Nishimura Gen , Ikegawa Shiro 
Published: May 2006

AbstractMultiple epiphyseal dysplasia (MED) is among the most genetically heterogeneous skeletal dysplasias. Six genes involved in MED, COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST have been identified; however, the presence of additional disease genes has been reported, and the detection rate for mutations in known genes accounts for no more than 50% of patients with MED in Western populations. Here, we screened the six known disease genes in 35 consecutive Japanese MED patients. We analyzed the entire coding region of each gene, along with flanking intron–exon junctions, by direct sequencing. A total of 19 mutations were identified in COMP, MATN3, COL9A2, COL9A3, and DTDST. The detection rate for known mutations was higher in this study than in previous reports, and we identified a substantially different spectrum of mutations. Mutations in MATN3 were more prevalent among these Japanese patients, whereas no DTDST mutations were detected. Most of the mutations were localized within specific regions of each gene: COMP mutations were found in the calmodulin‐like repeat domains; MATN3 mutations in the von Willebrand factor type A domain; and type IX collagen gene mutations occurred in the third collagenous domains. Based on the integration of clinical and genetic information, we propose an algorithm for detecting mutations in Japanese MED patients. Our study further supports the existence of additional MED gene(s). © 2006 Wiley‐Liss, Inc.
Influence of polymerization conditions on the structure and properties of polyethylene/polypropylene in‐reactor alloy synthesized in the gas phase with a spherical Ziegler–Natta catalyst
Authors: Fu Zhisheng , Dong Qi , Li Na , Fan Zhiqiang , Xu Junting 
Published: May 2006

AbstractA spherical TiCl4/MgCl2‐based catalyst was used in the synthesis of in‐reactor polyethylene/polypropylene alloys by polyethylene homopolymerization and subsequent homopolymerization of propylene in the gas phase. Different conditions in the ethylene homopolymerization stage, such as monomer pressure and polymerization temperature, were investigated, and their influences on the structure and properties of in‐reactor alloys were studied. Raising the polymerization temperature is the most effective way of speeding up polymerization and regulating the ethylene content of polyethylene (PE)/polypropylene (PP) alloys, but it will cause a greater increase in the PE‐b‐PP block copolymer fraction (named fraction D) than in the fraction of PP‐block‐PE in which the PP segments have low or medium isotacticity (named fraction A). Although changing ethylene monomer pressure could influence the ethylene content of PE/PP alloys slightly, it is an effective way of regulating the structural distribution. Reducing the monomer pressure will evidently increase fractions A and D. The mechanical properties of the alloys, including impact strength and flexural modulus, can be regulated in a broad range with changes in polymerization conditions. These properties are highly dependent on the amount, distribution, and chain structure of fractions A and D. The impact strength is affected by both fraction A and fraction D in a complicated way, whereas the flexural modulus is mainly determined by the amount of fraction A. © 2006 Wiley Periodicals, Inc. J Appl Polym Sci 101: 2136–2143, 2006
Information systems citation patterns from International Conference on Information Systems articles
Authors: Chuan Chan Hock , Kim Hee‐Woong , Tan Weai Chee 
Published: May 2006

AbstractResearch patterns could enhance understanding of the Information Systems (IS) field. Citation analysis is the methodology commonly used to determine such research patterns. In this study, the citation methodology is applied to one of the top‐ranked Information Systems conferences—International Conference on Information Systems (ICIS). Information is extracted from papers in the proceedings of ICIS 2000 to 2002. A total of 145 base articles and 4,226 citations are used. Research patterns are obtained using total citations, citations per journal or conference, and overlapping citations. We then provide the citation ranking of journals and conferences. We also examine the difference between the citation ranking in this study and the ranking of IS journals and IS conferences in other studies. Based on the comparison, we confirm that IS research is a multidisciplinary research area. We also identify the most cited papers and authors in the IS research area, and the organizations most active in producing papers in the top‐rated IS conference. We discuss the findings and implications of the study.
The dual nature of neurotrophins
Authors: Schweigreiter Rüdiger 
Published: May 2006

AbstractNeurotrophins are a small family of dimeric secretory proteins in vertebrate neurons with a broad spectrum of functions. They are generated as pro‐proteins with a functionality that is distinct from the proteolytically processed form. The cellular responses of neurotrophins are mediated by three different types of receptor proteins, the receptor tyrosine kinases of the Trk family, the neurotrophin receptor p75NTR, which is a member of the tumor necrosis factor receptor (TNFR) superfamily, and sortilin, previously characterized as neurotensin receptor. Recent studies have revealed an intriguing pattern: neurotrophins can elicit opposing signals utilising their variable configuration and different receptor types. BioEssays 28: 583–594, 2006. © 2006 Wiley Periodicals, Inc.
Primary bone lymphoma: Treatment results and prognostic factors with long‐term follow‐up of 82 patients
Authors: Beal Kathryn , Allen Laura , Yahalom Joachim 
Published: May 2006

AbstractBACKGROUNDTo the authors' knowledge, there is limited information on the preferred treatment and long‐term prognosis of primary bone lymphomas (PBLs). All PBL cases treated at the study center between 1963 and 2003 were analyzed to determine patient, disease, and treatment factors that could affect outcome measured by overall survival (OS), cause‐specific survival (CSS), and freedom‐from‐treatment failure (FFTF).METHODSA total of 101 patients with PBL diagnosed at the study institution were identified. Nineteen patients were excluded because they transferred their treatment or follow‐up to another center. Disease control, survival, and prognostic factors were analyzed for all 82 remaining patients.RESULTSThe median age of the patients was 48 years (range, 11–83 years). Approximately 80% presented with diffuse large‐cell lymphoma (DLCL), and 81% presented with Ann Arbor Stage I or II disease. Approximately 57% were treated with combined modality therapy, 14% were treated with radiation therapy alone, and 30% were treated with chemotherapy alone. The median follow‐up was 67 months (range, 2–280 months). The 5‐year OS, CSS, and FFTF were 88%, 96%, and 81%, respectively. The 5‐year OS for patients treated with combined modality versus single‐modality therapy was 95% versus 78% (P = .013), and the 5‐year FFTF for patients treated with combined modality versus single‐modality therapy was 90% versus 67% (P = .025). The 5‐year CSS for patients treated with combined modality versus single‐modality therapy was 95% versus 83% (P = .065). Using a Cox regression for multivariate analysis, age <40 years and use of combined modality therapy were found to be favorable prognostic factors for OS, CSS, and FFTF.CONCLUSIONSTo the authors' knowledge, the current study is the largest series of patients with PBL treated with modern curative modalities. The data demonstrate that primary lymphoma involving the bone has an excellent prognosis. Patients with PBL treated with combined modality versus single modality therapy were found to have a superior outcome, with a significantly better survival. Cancer 2006. © 2006 American Cancer Society.
Outcomes in patients with splenic marginal zone lymphoma and marginal zone lymphoma treated with rituximab with or without chemotherapy or chemotherapy alone
Authors: Tsimberidou Apostolia M. , Catovsky Daniel , Schlette Ellen , O'Brien Susan , Wierda William G. , Kantarjian Hagop , Garcia‐Manero Guillermo , Wen Sijin , Do Kim‐Anh , Lerner Susan , Keating Michael J. 
Published: May 2006

AbstractBACKGROUNDThe optimal management of patients with splenic marginal zone lymphoma/marginal zone lymphoma (SMZL) is controversial. The objective of this retrospective study was to compare the outcomes of patients with SMZL who received treatment with rituximab, rituximab plus chemotherapy, or chemotherapy alone.METHODSThe Leukemia Service database was searched for patients with splenic lymphoma who were registered between May 1995 and October 2004. The indications for treatment were the same as those used for patients with chronic lymphocytic leukemia.RESULTSSMZL was confirmed in 70 patients. The median age was 64 years. The median number of CD20 molecules per cell was 69 × 103. Forty‐three patients required systemic therapy; rituximab in 26 patients, chemotherapy plus rituximab in 6 patients, and chemotherapy alone in 11 patients. Ten additional patients underwent splenectomy, and 17 patients were in the observation group. The overall response rates were 88% with rituximab, 83% with rituximab plus chemotherapy, and 55% with chemotherapy alone; the 3‐year survival rates were 95%, 100%, and 55%, respectively. The 3‐year failure‐free survival (FFS) rates were 86%, 100%, and 45% in the rituximab, rituximab plus chemotherapy, and chemotherapy alone groups, respectively. Rituximab treatments resulted in longer survival and FFS compared with chemotherapy. Rituximab alone resulted in disappearance of splenomegaly in 92% of patients and normalization of absolute lymphocyte counts. In univariate analysis, younger age and rituximab‐based therapy were predictive of longer FFS.CONCLUSIONSRituximab with or without chemotherapy was found to have major activity in patients with SMZL. These results may be associated with high levels of cellular CD20 antigen sites. Rituximab should be the treatment of choice, at least in older patients with SMZL who have comorbid diseases. Cancer 2006. © 2006 American Cancer Society.
Dedifferentiated central chondrosarcoma
Authors: Staals Eric L. , Bacchini Patrizia , Bertoni Franco 
Published: May 2006

AbstractBACKGROUNDThe prognosis for patients who develop dedifferentiation of central chondrosarcoma traditionally has been poor. Because not much has been reported about this rare lesion, many uncertainties remain about prognostic factors.METHODSIn this retrospective study, the clinical, radiographic, and histologic features and the treatments in 123 patients from the Rizzoli Institute were reviewed in an attempt to define which factors may be related to outcome in patients with dedifferentiated central chondrosarcoma.RESULTSAmong 123 patients who were included in this study, 109 patients were treated at the Rizzoli Institute, and 14 patients were seen in consultation. There were 66 males and 57 females, and their average age was 59 years. The femur (62 patients), pelvis (28 patients), and humerus (20 patients) were the most common locations. Radiographically, a soft tissue mass was present in 87% of patients, and a bimorphic pattern was appreciated in 53% of patients. Histologically, the cartilaginous component was considered Grade 1 in 63% of patients and Grade 2 in 37% of patients. In most patients, the dedifferentiated component showed the features of an osteosarcoma (92 patients), followed by fibrosarcoma (19 patients), and malignant fibrous histiocytoma (9 patients). For 101 patients, surgery was a component of their definitive management. In 25 patients, surgery was combined with chemotherapy. The 2‐year and 5‐year survival rates were 34% and 24%, respectively. The median survival was 13 months (95% confidence interval, 9‐17 months).CONCLUSIONSMetastatic disease at diagnosis, malignant fibrous histiocytoma dedifferentiation, and a high percentage of dedifferentiated component were related to poorer outcomes. There was no statistical evidence of any beneficial effect from adjuvant chemotherapy. Cancer 2006. © 2006 American Cancer Society.
Influence of local recurrence on survival in patients with extremity osteosarcoma treated with neoadjuvant chemotherapy
Authors: Bacci Gaetano , Longhi Alessandra , Cesari Marilena , Versari Michela , Bertoni Franco 
Published: May 2006

AbstractBACKGROUNDRisk factors for local recurrence (LR) after osteosarcoma, such as surgical margins and histologic response to preoperative treatment, have been well documented, whereas the outcome for patients who locally recur has not been well established yet.METHODSRetrospective analysis of the management and outcome of 44 patients who developed LR after treatment of osteosarcoma of the extremities with neoadjuvant chemotherapy was performed in a single institution between 1983 and 1999.RESULTSIn 24 patients (54.5%), LR was the first sign of recurrence; in 8 patients (18.2%) LR followed systemic recurrence and in 12 patients (27.3%), the 2 events, local and systemic recurrence, were concurrent. Of the 44 patients, 26 with local recurrences were free of disease, but only 5 were long‐term event‐free survivors, and 39 patients developed further recurrences: 37 died of the tumor and 2 were alive with uncontrolled disease at the time of last follow‐up. The 5‐year disease‐free survival rate after the last recurrence was 15.9%; it was 25.9% for patients who achieved remission and 0% for the others. The only prognostic factor identified for post‐LR disease‐free survival was the presence of systemic recurrence at the time of diagnosis of LR or before (5‐year postrecurrence event‐free survival rate of 29.1% for patients without metastases at the time of local recurrence vs. 0% for those with metastases; P = .02).CONCLUSIONSThese results confirm that patients with osteosarcoma of the extremities who develop LR are at a very significantly high risk of developing metastatic disease and dying of the tumor. Cancer 2006. © 2006 American Cancer Society.
Supraclavicular radiation for breast cancer does not increase the 10‐year risk of stroke
Authors: Woodward Wendy A. , Giordano Sharon H. , Duan Zhigang , Hortobagyi Gabriel N. , Buchholz Thomas A. 
Published: May 2006

AbstractBACKGROUNDModern radiation techniques, which limit the radiation dose to the heart during treatment for breast cancer, have greatly reduced the risk of radiation‐induced cardiac injury. However, the risk of radiation damage to the carotid artery, which is often incidentally included in the supraclavicular radiation field for breast cancer treatment, is not routinely examined, and the technique used to treat this field has not changed significantly from early radiation trials. The purpose of the current study was to compare the incidence of hospitalization for stroke among women with breast cancer treated with supraclavicular radiation with those who received radiation therapy to the breast but not the supraclavicular fossa.METHODSData from the Surveillance, Epidemiology, and End Results (SEER)‐Medicare database for 5752 women who were diagnosed with American Joint Committee on Cancer (AJCC) Stage I‐III nonmetastatic breast cancer between 1988 and 1997 were analyzed. Women included were age ≥66 years, had known lymph node (LN) status, had tumors measuring ≤5 cm, underwent breast surgery, and received adjuvant radiation therapy (with or without supraclavicular irradiation). Patients with <5 years of follow‐up were excluded because events in the first 5 years after radiation were unlikely to be radiation induced. A Cox proportional hazards model was used to compare patients with 0 positive LNs (surrogate group for no supraclavicular radiation, n = 5281) with patients with >4 positive LNs (surrogate for supraclavicular radiation group, n = 471) for the endpoint of hospitalization for stroke. Time‐to‐event curves were calculated using the conditional Kaplan–Meier method.RESULTSThe median follow‐up for the 0 and 4+ LN cohorts were 92 months and 90 months, respectively (minimum of 60 months). The 10‐year and 15‐year actuarial freedom from hospitalization for stroke was 91% (0 LN) versus 89.5% (4+ LN) and 79% (0 LN) versus 81.6% (4+ LN), respectively (P = .28). Estrogen receptor status was balanced between the 2 cohorts. As expected, the 4+ cohort had more advanced tumors, higher stage, larger tumor size, and higher grade (P<.0001). In multivariate analysis including LN group, year of diagnosis, age, race, type of surgery, stage, tumor size, grade, estrogen receptor status, and Charlson comorbidity score, only increased age (hazard ratio [HR] for ages 70‐74 years, 1.6; HR for ages 75‐79 years, 2.1; and HR for age 80+ years, 2.7) and increasing comorbidity score were predictive of an increased risk of hospitalization for stroke.CONCLUSIONSAlthough patients with nonbreast malignancies treated with higher doses to the carotid arteries have been shown to have an increased risk of carotid injury, no evidence was found that radiation to the carotid delivered during supraclavicular irradiation for breast cancer increases the risk of hospitalization for stroke. Cancer 2006. © 2006 American Cancer Society.
Expression of estrogen receptors‐α and ‐β in bladder cancer cell lines and human bladder tumor tissue
Authors: Shen Steven S. , Smith Carolyn L. , Hsieh Jer‐Tsong , Yu Jiang , Kim Isaac Y. , Jian Weiguo , Sonpavde Guru , Ayala Gustavo E. , Younes Mamoun , Lerner Seth P. 
Published: May 2006

AbstractBACKGROUNDEstrogen receptors (ERs) are known to mediate important physiologic responses as well as the growth of some tumors in response to estradiol stimulation. In a previous study the selective ER modulator raloxifene was shown to induce apoptosis in an ERβ‐positive bladder cancer cell line. However, the expression of ERβ in human bladder cancer has not been thoroughly investigated.METHODSERα and ERβ expression in 224 bladder tumor samples was evaluated using tissue microarray and immunohistochemistry. Levels of ERα and ERβ protein and mRNA expression were determined in several bladder cancer cell lines using quantitative reverse‐transcriptase polymerase chain reaction (RT‐PCR) and Western blot analysis. The effect of estradiol and antiestrogen treatments on RT4 bladder cancer cell growth was determined by cell proliferation assays.RESULTSAnalyses revealed that only 2 human bladder cancers weakly expressed ERα. In contrast, the expression of ERβ was detected in 141 tumors (63%). ERβ was expressed in 58% of WHO Grade 1 and 2 tumors, whereas 70% of Grade 3 tumors demonstrated expression (P=.085). Importantly, although only 53% and 55% of Ta and T1 tumors demonstrated ERβ expression, 80% of T2, 81% of T3, and 75% of T4 tumors showed ERβ expression. The differences in ERβ expression between Ta/T1 and T2/T3/T4 tumors were found to be highly significant (P<.001). Metastatic transitional cell carcinomas had ERβ expression (80%) comparable to that of muscle invasive bladder cancers. Western blot analysis detected ERβ protein expression in each of the 5 bladder cancer cell lines tested, whereas no or very low levels of ERα were found. Quantitative RT‐PCR revealed that higher levels of ERβ than ERα mRNA were present in 5637, T‐24, TSU‐Pr1, and TCC‐Sup bladder cancer cells, whereas ER‐α mRNA levels were greater than ERβ in RT4 cells. Treatment with 17β‐estradiol modestly increased RT4 cell growth, whereas the antiestrogens, 4‐hydroxtamoxifen, raloxifene, or ICI 182,780 inhibited the growth of RT4 cells.CONCLUSIONSERβ is the dominant receptor expressed in bladder cancer cell lines and in the majority of human bladder tumors. Moreover, the degree of ERβ expression increases with increasing stage and grade of differentiation. Antiestrogens have an inhibitory effect on the growth of bladder cancer cells in vitro. Cancer 2006. © 2006 American Cancer Society.
Polymersomes as viral capsid mimics
Authors: Ahmed Fariyal , Photos Peter J. , Discher Dennis E. 
Published: May 2006

AbstractPolymersomes are self‐assembled polymer shells composed of block copolymer amphiphiles. These synthetic amphiphiles have a similar amphiphilicity to lipids, but they have much larger molecular weights and so for this reason, plus many others reviewed here, comparisons of polymersomes to viral capsids composed of large polypeptide chains seem increasingly more appropriate. The wide range of polymers being used to make polymersomes is summarized together with descriptions of physical properties such as stability and permeability. Emerging studies of in vivo stealthiness and programmed disassembly for controlled release are also elaborated here together with a summary of targeting in vitro. Comparisons of polymersomes to viral capsids are shown to encompass many aspects of current designs. Drug Dev. Res. 67:4–14, 2006. © 2006 Wiley‐Liss, Inc.
Magnetic nanoparticles for drug delivery
Authors: Dobson Jon 
Published: May 2006

AbstractTargeting specific sites in vivo for the delivery of therapeutic compounds presents a major obstacle to the treatment of many diseases. One targeted delivery technique that has gained prominence in recent years is the use of magnetic nanoparticles. In these systems, therapeutic compounds are attached to biocompatible magnetic nanoparticles and magnetic fields generated outside the body are focused on specific targets in vivo. The fields capture the particle complex resulting in enhanced delivery to the target site. This review will focus on technical aspects of magnetic targeting as well as nanoparticle design and animal and clinical trials. Drug Dev. Res. 67:55–60, 2006. © 2006 Wiley‐Liss, Inc.