bluuebunny/crossref_metadata_2025_split huggingface dataset:
A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: A possible role of the Alu‐polyA tail in the evolution of the deletion
Authors: Wang Tieling , Lerer Israela , Gueta Zehava , Sagi Michal , Kadouri Luna , Peretz Tamar , Abeliovich Dvorah 
Published: August 2002

AbstractPatients with breast and/or ovarian cancer were screened for gross rearrangements in the BRCA2 gene by Southern hybridization, with exon 10 and a fragment of exon 11 used as probes. One breast cancer patient with a positive family history had a 6.2‐kb deletion including exons 12 and 13. The deletion breakpoint in intron 11 was in the 3′ polyA tail of an Alu element, where a track of ≈60 adenine nucleotide residues was inserted. Expansion of the Alu‐polyA tail may have resulted from polymerase slippage during replication, representing a novel mechanism in which Alu elements mediate deletion/insertion mutations. © 2001 Wiley‐Liss, Inc.
Establishment of a cell line with AML1‐MTG8, TP53, and TP73 abnormalities from acute myelogenous leukemia
Authors: Inokuchi Koiti , Hamaguchi Hiroyuki , Taniwaki Masafumi , Yamaguchi Hiroki , Tanosaki Sakae , Dan Kazuo 
Published: August 2002

AbstractGene alterations accumulate during the progression of acute myelogenous leukemia (AML) to a malignant clone. Here, a new myeloid cell line, designated YSK‐21, with the balanced t(8;21)(q22;q22) and the unbalanced der(1)t(1;17)(p36;q21), was established. YSK‐21 grows well in a medium containing recombinant human granulocyte colony‐stimulating factor (rhG‐CSF), granulocyte‐macrophage colony‐stimulating factor (rhGM‐CSF), or interleukin‐3 (rhIL‐3). Molecular analysis using the reverse transcriptase‐polymerase chain reaction (RT‐PCR) and fluorescence in situ hybridization (FISH) revealed that t(8;21)(q22;q22) resulted in an AML1‐MTG8 fusion transcript. FISH and spectral karyotyping (SKY) in conjunction with G‐banding analysis revealed a der(1)t(1;17)(p36;q21) chromosomal translocation, which appeared in the clone developed from the original leukemic cells. Molecular analysis of the TP73 gene on 1p36 and the TP53 gene revealed a deletion of one‐allele in TP73 with partial demethylation of another allele in the initial clone of YSK, and a point mutation consisting of an A→T substitution in codon 288 of the TP53 gene in the developed clone of YSK‐21. YSK‐21 cells, expressing aberrant AML1‐MTG8, TP53, and TP73 protein molecules, may be useful for elucidating the pathophysiology of these aberrant proteins and for studying the der(1)t(1;17)(p36;q21) chromosomal translocation. © 2001 Wiley‐Liss, Inc.
What's buzzing? Mosquito genomics and transgenic mosquitoes
Authors: Atkinson Peter W. , Michel Kristin 
Published: August 2002

AbstractSummary: Genome projects and associated technologies are now being established for mosquito species that are vectors of human disease. The recent announcement of an award by the National Institute of Allergy and Infectious Diseases (NIAID) to Celera Genomics to sequence the Anopheles gambiae genome will further accelerate the completion of the sequencing of this genome. Completion of the An. gambiae sequence will mean that the genomes of all three organisms involved in the transmission of falciparum malaria—the mosquito, the parasite, and the human—will have been sequenced. This will greatly facilitate the identification of genes and pathways involved in the transmission of malaria. The recent genetic transformation of An. gambiae with the piggyBac transposable element and the transformation of another important malarial vector, Anopheles stephensi using the Minos element, now provide researchers with powerful tools with which to genetically manipulate these medically important vector species. Here we review the recent progress made in the extension of contemporary tools of modern genetics and genomics into these medically important insects. genesis 32:42–48, 2002. © 2002 Wiley‐Liss, Inc.
Utero‐tubal transfer of mouse embryos
Authors: Chin Hsian‐Jean , Wang Chi‐Kuang Leo 
Published: August 2002

AbstractSummary: A successful embryo transfer depends on the quality of the transferred embryos, recipients, and the transfer techniques. Among these, transfer techniques are often the limiting factor because transfer methodologies and personal skills vary. Suboptimal embryo transfer procedures can compromise transgenic experiments (pronuclear microinjection and gene targeting) and critical steps of mouse colony maintenance (embryo cryopreservation and mouse line rederivation). Here we present an efficient and simple procedure utilizing specific designs to improve the transfer quality. A 100% implantation rate is observed after the utero‐tubal embryo transfer, which indicates that the modified method successfully prevents the embryos from flowing out of the punctured hole during embryo transfer. We believe this alternative methodology is able to fulfill the need of high efficiency of animal production. genesis 30:77–81, 2001. © 2001 Wiley‐Liss, Inc.
Mapping multiple genes for quantitative or complex traits
Authors: Tang Hsiu‐Khuern , Siegmund David 
Published: August 2002

AbstractModels for complex and quantitative traits that involve multiple, possibly interacting, genes are described. Methods of linkage analysis are developed that utilize special features of these models, and their power is compared with that of simple genome scans that ignore these special features. Our calculations show that for family‐based nonparametric linkage analysis in human genetics, in contrast to experimental genetics, there are limits to the increase in power that can be achieved by correctly modeling gene‐gene interactions. In particular, the noncentrality parameter of likelihood‐based statistics to detect single gene effects involves both single gene and interaction components of variance, so even when the interaction components of variance are relatively large, the incremental power from a statistic designed to detect both single gene and interaction effects is often quite modest. We carry out our analysis with the assistance of a parameterization that allows us to compute score statistics, noncentrality parameters, and Fisher information matrices reasonably explicitly. Genet. Epidemiol. 22:313–327, 2002. © 2002 Wiley‐Liss, Inc.
Dementia in people with Down's syndrome
Authors: Tyrrell Janette , Cosgrave Mary , McCarron Mary , McPherson Janet , Calvert Johnston , Kelly Alan , McLaughlin Martin , Gill Michael , Lawlor Brian. A. 
Published: August 2002

AbstractObjectivesTo determine the prevalence of dementia in an Irish sample of people with Down's syndrome (DS) and to examine associated clinical characteristics of dementia in this group.Method285 people with DS (Age 35–74 years, mean age ± SD 46.5 ± 8.2 years) were included in this cross‐sectional study. The diagnosis of dementia was made using modified DSMIV criteria. Cognitive tests used were the Down's syndrome Mental Status Examination (DSMSE), Test for Severe Impairment (TSI) and adaptive function was measured by the Daily Living Skills Questionnaire (DLSQ).ResultsThe overall prevalence of dementia was 13.3%. The presence of dementia was associated with epilepsy, myoclonus, and head injury. The demented DS group were significantly older (n = 38, mean age 54.7 years SD ± 7.5) than the non‐demented (n = 246, mean age 45.6, SD ± 7.3). The TSI and DLSQ had a satisfactory spread of scores without ‘floor’ or ‘ceiling’ effects in people with moderate and severe learning disability. Median scores in demented versus the non‐demented groups were significantly different for each measure of function.ConclusionsDementia had a prevalence of 13.3% and occurred at a mean age of 54.7 years. The combination of DLSQ score, age and presence of epilepsy were found to predict presence of dementia. Copyright © 2001 John Wiley & Sons, Ltd.
Citizens, their agents and health care rationing: an exploratory study using qualitative methods
Authors: Coast Joanna 
Published: August 2002

AbstractThis paper considers the application of the theoretical notion of a principal–agent relationship to societal health care decision making. Current literature sheds little light upon whether a citizen–agent relationship exists in health care, with ambiguity about whether citizens want agents to make rationing decisions on their behalf, and if so, who these societal agents might be. A qualitative approach, using semi‐structured interviews as the main instrument of data collection and analysis by constant comparison, was used to explore these issues with groups of both citizens and their potential agents. The findings of the research suggest that citizens vary considerably in the extent to which they want to be directly involved in making rationing decisions. Important influences on this issue appear to be knowledge and experience, objectivity and the potential distress that denying care may cause. Agents, in contrast, view citizens as needing agents to make decisions for them and suggest that it is primarily the health authority's role to act in this capacity. It is, however, apparent that the citizen–agent relationship in health care is both imperfect and complex, with final decisions resulting from the interaction between the utility functions of the various actors in the health care system. In practice a system of equivocation can be envisaged in which different groups collude as they attempt to avoid the disutility associated with denying care, with the consequence that the impact of decisions taken on an explicitly societal or citizen basis may be relatively small. Copyright © 2001 John Wiley & Sons, Ltd.
Demand for traditional medicine in Taiwan: a mixed Gaussian–Poisson model approach
Authors: Yen Steven T. , Tang Chao‐Hsiun , Su Shew‐Jiuan B. 
Published: August 2002

AbstractHurdle count models are used to examine the participation and consumption decisions in Chinese medicine use. Motivated by a household production model, a second censoring mechanism is introduced into existing single‐hurdle models, and the resulting specification accommodates conscientious abstainers, as well as economic non‐consumers, and admits excessive zeros in the sample. In contrast to previous studies that found few predictors, empirical results based on a Taiwanese national sample suggest that Western medicine is a gross substitute to Chinese medicine, and both time price and money price play more important roles than income. Insurance, lifestyle and demographics also determine the use of Chinese medicine. Copyright © 2001 John Wiley & Sons, Ltd.
The wookey flap revisited
Authors: Sundaram Krishnamurthi , Har‐El Gady 
Published: August 2002

AbstractBackgroundComplete circumferential pharyngoesophageal reconstruction has undergone remarkable changes and developments during the last three decades. Gastric transposition and microvascular techniques are the standards of care. However, in cases of failure, or where other factors such as severe comorbidities prevent the use of microvascular techniques, reconstruction with local flaps provide a reliable option. We have used the Wookey flap technique in six patients with complete circumferential loss of the pharynx and upper esophagus. To make the procedure more reliable, we added a “delay” stage.MethodsRetrospective review of charts of six Wookey‐type reconstructions of the pharynx and upper esophagus done in our department at SUNY‐HSC, Brooklyn, and The Long Island College Hospital.ResultsFive of the six patients had successful reconstruction of complete circumferential pharyngoesophageal resection. All five resumed oral alimentation. The flap failed in one patient.ConclusionsThe Wookey flap may still provide surgeons with a “last resort” reconstructive option after complete, circumferential pharyngoesophageal resection. © 2002 Wiley Periodicals, Inc. Head Neck 24: 395–400, 2002
A pilot study evaluating the safety and microbiologic efficacy of an economically viable antimicrobial lozenge in patients with head and neck cancer receiving radiation therapy
Authors: El‐Sayed Samy , Epstein Joel , Minish Erin , Burns Patricia , Hay John , Laukkanen Ethan 
Published: August 2002

AbstractBackgroundMucositis occurs in almost all radiotherapy‐treated head and neck cancer patients, in approximately 75% of patients receiving hematopoietic marrow transplantation, and in approximately 40% of all patients who receive chemotherapy. Mucositis is painful, may affect all oral functions, and is a dose‐ and rate‐limiting toxicity of therapy for cancer. Radiation‐associated mucositis (onset, intensity, and duration) has been shown in recent clinical trials to be modified by the use of antibacterial/antifungal lozenges.PurposeThe aim of this collaborative two‐center phase II study was to assess the toxicity and microbiologic efficacy of an economically viable antimicrobial lozenge in the management of patients receiving radiation therapy for head and neck cancer.Materials and MethodsSeventeen patients scheduled to receive radical or postoperative radiotherapy were provided with bacitracin, clotrimazole, and gentamicin (BCoG) lozenges (one lozenge dissolved in the mouth qid from day 1 of radiotherapy until completion). Ease of use and palatability of the lozenges, patients' symptoms (swallowing and pain), and quantitative and qualitative microbiologic evaluation of an oral rinse collection was conducted at least once weekly during radiation therapy.ResultsNo significant side effects were reported from the use of the lozenges. The lozenges were well tolerated at the beginning of treatment by all patients, with some minor difficulty associated with oral discomfort toward the end of the treatment. Microbiologic evaluation showed consistent elimination of yeast organisms in all patients. In four patients there was no growth of gram‐negative bacilli on culture, whereas in two patients, fluctuating counts were seen, and one patient had increased counts. The remaining patients had significant reduction in the gram‐negative bacilli counts.ConclusionsThis study demonstrated that the BCoG lozenge is tolerable and microbiologically efficacious, achieving elimination of Candida in all patients and reduction in gram‐negative flora in most patients. A phase III study is underway to evaluate the clinical efficacy of this lozenge. © 2002 John Wiley & Sons, Inc. Head Neck 24: 6–15, 2002.
Esophageal blue nevus: An isolated endoscopic finding
Authors: Lam King Y. , Law Simon , Chan Gavin S. W. 
Published: August 2002

AbstractBackgroundThe occurrence of blue nevus has seldom been reported in extracutaneous sites and with no record in the esophagus.Case ReportA blue nevus was reported in the esophagus of a 58‐year‐old Chinese woman. On endoscopic examination, the lesion presented as linear patches of bluish pigmentation in the esophagus. The patient was free of symptoms 3 years after the endoscopic examination.ConclusionsWe believe this represents the first reported case of blue nevus in the esophagus. The clinicopathologic features, differential diagnoses, and the nature of the lesion are discussed, along with a review of the literature. © 2001 John Wiley & Sons, Inc. Head Neck 23: 506–509, 2001
Cytoplasmic accumulation of α‐catenin in thyroid neoplasms
Authors: Baloch Zubair W. , Pasha Terry , LiVolsi Virginia A. 
Published: August 2002

AbstractBackgroundAlpha‐catenin (α‐cat) is one of the anchoring proteins of E‐cadherin. It has been shown that deviation in its function may alter the cadherin–catenin complex leading to disturbed cell–cell adhesion. Immunohistochemical studies have shown that cytoplasmic localization of α‐cat in tumors is associated with aggressive behavior. In this study, we evaluated the expression of α‐cat in various thyroid tumors by immunohistochemical analysis.MethodsFifty cases were selected:18 papillary carcinoma classic type (PTC), 9 follicular variant of PTC (FVPTC), 6 follicular carcinoma (FCA), 4 anaplastic carcinoma (ACA), 8 follicular adenoma (FA), 3 nodular goiter (NG), and 2 lymphocytic thyroiditis (LT). The staining reaction was classified as membranous, cytoplasmic, or both. The intensity of the staining was graded as negative (0), weak (+), moderate (++), and strong (+++).ResultsStaining along the cell membrane was observed in 36 (72%) and cytoplasmic expression was present in 28 (57%) cases. The cytoplasmic staining was more commonly seen in malignant lesions; it was more common in PTC (78% of all PTC) than follicular patterned lesions (FVPTC, FCA). All cases of ACA (4 of 4) showed only cytoplasmic expression. No correlation was found between lymph node involvement and α‐cat staining patterns.ConclusionsCytoplasmic expression of α‐cat is more common in (1) malignant lesions of thyroid and (2) PTC than FVPTC and FCA. The lack of membrane and presence of cytoplasmic expression suggest a role of α‐catenin in the aggressive biology of ACA. © 2001 John Wiley & Sons, Inc. Head Neck 23: 573–578, 2001.
Loss of imprinting and loss of heterozygosity on 11p15.5 in head and neck squamous cell carcinomas
Authors: Rainho Cláudia A. , Kowalski Luiz P. , Rogatto Silvia R. 
Published: August 2002

AbstractBackgroundIGF2 and H19 are reciprocal imprinted genes with paternal and maternal monoallelic expression, respectively. This is interesting, because IGF2 is known as a growth factor, and H19 encodes a RNA with putative tumor suppressor action. Furthermore, IGF2 and H19 are linked genes located on chromosome 11p15.5, a common site of loss of heterozygosity in human cancers.MethodsWe performed an allelic‐typing assay using a PCR‐RFLP–based method for identification of heterozygous informative cases in head and neck squamous cell carcinomas. Tumoral total RNA was extracted from each of the heterozygotes and further studied by RT‐PCR analysis.ResultsWe detected the expression of the IGF2 gene in 10 of 10 informative cases. Two cases exhibited LOI of the IGF2 gene as evidenced by biallelic expression, and in another case, LOH was coupled with monoallelic expression of this growth factor. LOI for the H19 gene was observed in 1 of 14 informative samples analyzed. In this case, we also detected parallel monoallelic expression of the IGF2 gene. Down‐regulation of the H19 gene was observed in 10 of 14 cases.ConclusionThese findings support the hypothesis that H19 may be a tumor suppressor gene involved in head and neck carcinogenesis. Furthermore, our data showed that genetic and epigenetic changes at 11p15.5 could lead to abnormal expression of imprinted genes in HNSCC. © 2001 John Wiley & Sons, Inc. Head Neck 23: 851–859, 2001.
Improving the functional outcome of Tucker's reconstructive laryngectomy
Authors: Lawson Georges , Jamart Jacques , Remacle Marc 
Published: August 2002

AbstractBackgroundThe goal of reconstructive laryngectomy addressing glottic carcinoma, as described by Tucker, is twofold: achieve local control and preserve as much as possible the physiological laryngeal function.MethodsThe study consisted of long‐term assessment of oncological, deglutitory, and vocal outcome in 34 patients following Tucker's reconstructive laryngectomy. Postoperative follow‐up included fiberscopic examination, videoradiography, and voice assessment after speech rehabilitation.ResultsThe 5‐year overall survival rate was 92% ± 5%. Fiberscopic examination and videoradiography contributed to observing and understanding the rehabilitation process and impairment to its progress. Two main compensatory movements were identified: the anticipatory backward movement of the tongue base (50%) and the anticipatory upward laryngeal motion (15%). Both movements occurred simultaneously at the beginning of the pharyngeal stage of the swallow (35%). The median duration prior to tracheostomy tube removal was 14 days. Swallowing of solids resumed on day 9 (median), and liquid intake (water and soup) resumed on day 12 (median). The median duration of hospitalization was 16 days. Following speech rehabilitation, the latest follow‐up visit measured as follows: the mean conversational voice intensity at 64 dB (range, 57–79 dB); the mean maximum intensity at 87 dB (range, 78–96 dB); the minimum intensity at 54 dB (range, 45–65 dB); the mean maximum phonation time at 16 seconds (range, 10–29 seconds); and the mean phonation quotient at 284 mL/second (range, 205–341 mL/second). According to our classification, voice spectral analysis revealed 19 class‐III patients, 12 class‐II patients, and three class‐I patients.ConclusionTucker's reconstructive laryngectomy is reliable in terms of both the oncological and functional outcome. Fiberscopic examination and videoradiography are two complementary methods for assessing postoperative deglutition. © 2001 John Wiley & Sons, Inc. Head Neck 23: 871–878, 2001.
User‐interface design heuristics for developing usable industrial hypermedia applications
Authors: Fakun D. , Greenough R. M. 
Published: August 2002

AbstractShop floor operators urgently need help to cope with the pressures of the present manufacturing context. One proposed solution is industrial hypermedia applications (IHA). A review of published papers on IHAs has shown that while the potential benefits of such applications, if accepted and used by operators, are well documented, user‐interface design aspects are not. In other words, the rationale used for the user‐interface design is not explained. This article fills the gap by drawing on human–computer interaction and hypermedia literature to present user‐interface design guidelines or heuristics. The latter were incorporated in 2 IHAs developed for this study. Shop floor operators empirically assessed the IHAs through usability trials held in the workplace and provided data on their perceptions of the IHA's ease of use. The findings show that the 7 design heuristics contributed to the usability of the IHAs. However, developers should not apply the design heuristics in isolation but should also elicit user characteristics and task domain. © 2002 Wiley Periodicals, Inc.
Zero‐flux zone model analysis of a single bubble in boiling liquid
Authors: Li Z. M. , Peng X. F. , Lee D. J. 
Published: August 2002

AbstractWe start from a bubble, the basic unit of boiling, to explore liquid boiling. Research indicates that the heat and mass transfer between liquid and vapor is the determinant factor of boiling heat transfer. We have analyzed interfacial vaporization and condensation of a single bubble in boiling liquid based on a zero‐flux zone model. We have deduced the expression of zero‐flux angle and discussed the relationship between zero‐flux zone and the other parameters in order to comprehend the mechanism of boiling heat transfer. © 2002 Wiley Periodicals, Inc. Heat Trans Asian Res, 31(4): 249–256, 2002; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/htj.10026
Wetting on a plate with three‐dimensional random roughness and heterogeneity
Authors: Katoh Kenji , Azuma Tsuneo 
Published: August 2002

AbstractA theoretical study was conducted to investigate the wetting behavior of liquid meniscus on a vertical plate with three‐dimensional random characteristics of heterogeneity and roughness. The thermodynamic stable condition was derived by considering the minimum of system free energy. The local stable condition leads to a result similar to that obtained for a plate with two‐dimensional characteristics, that is, the system has many meta‐stable states. For the stable condition of the whole system, a relation was derived between the macroscopically observed contact angle and the surface characteristics. The product of cosine of the contact angle and liquid surface tension is equal to the energy difference for the liquid to wet the plate by apparent unit area. If the liquid wets the solid surface reversibly, there is only one contact angle observed macroscopically. This fact suggests that the contact angle hysteresis is caused by the irreversible motion when the liquid advances or recedes on the solid surface. The well‐known Cassie's and Wenzel's contact angles are explained as those corresponding to a thermodynamically stable condition when the liquid wets the solid reversibly. © 2001 Scripta Technica, Heat Trans Asian Res, 30(5): 371–382, 2001