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PubMed2005

Parent-of-origin, imprinting, mitochondrial, and X-linked effects in traits related to alcohol dependence: presentation Group 18 of Genetic Analysis Workshop 14.

The participants of Presentation Group 18 of Genetic Analysis Workshop 14 analyzed the Collaborative Study on the Genetics of Alcoholism data set to investigate sex-specific effects for phenotypes related to alcohol dependence. In particular, the participants looked at imprinting (which is also known as parent-of-origin effect), differences between recombination fractions for the two sexes, and mitochondrial and X-chromosomal effects. Five of the seven groups employed newly developed or existing methods that take imprinting into account when testing for linkage, or test for imprinting itself. Single-marker and multipoint analyses were performed for microsatellite as well as single-nucleotide polymorphism markers, and several groups used a sex-specific genetic map in addition to a sex-averaged map. Evidence for paternal imprinting (i.e., maternal expression) was consistently obtained by at least two groups at genetic regions on chromosomes 10, 12, and 21 that possibly harbor genes responsible for alcoholism. Evidence for maternal imprinting (which is equivalent to paternal expression) was consistently found at a locus on chromosome 11. Two groups applied extensions of variance components analysis that model a mitochondrial or X-chromosomal effect to latent class variables and electrophysiological traits employed in the diagnosis of alcoholism. The analysis, without using genetic markers, revealed mitochondrial or X-chromosomal effects for several of these traits. Accounting for sex-specific environmental variances appeared to be crucial for the identification of an X-chromosomal factor. In linkage analysis using marker data, modeling a mitochondrial variance component increased the linkage signals obtained for autosomal loci.

Alcoholism↗
PubMed2004

Screening in liver disease: report of an AASLD clinical workshop.

This report summarizes an AASLD Clinical Workshop that was presented at Digestive Diseases Week 2003 on screening in liver diseases. As newer diagnostic tests become available, many liver diseases and complications of liver disease can be detected at an early asymptomatic stage. In many cases, early detection can lead to earlier treatment and an improved outcome. However, screening for liver diseases in asymptomatic persons has the potential for adverse consequences, including discrimination and stigmatization. The cost of screening programs is significant, and access to screening tests varies in different countries. Future screening programs require careful planning and implementation to balance the benefits, risks, and cost-effectiveness. This review outlines the concepts of screening and their application to a broad range of liver diseases.

Cost-Benefit Analysis↗
PubMed1996

New concepts in bilirubin and jaundice: report of the Third International Bilirubin Workshop, April 6-8, 1995, Trieste, Italy.

The workshop covered three major areas: Unconjugated bilirubin (UCB) chemistry and physical chemistry; UCB transport and intracellular trafficking; and evaluation and therapy of neonatal and congenital hyperbilirubinemias. Findings of studies in the chemistry and physical chemistry area were as follows. (1) Nuclear magnetic resonance (NMR) studies of highly enriched 13COOH mesobilirubin in water-dimethyl sulfoxide systems indicated that the pKa values of the carboxyl groups are 4.2 and 4.9, respectively. This finding differs from some reports that suggest that the two pKa values in aqueous systems are near or above pH 7.0. (2) Contrasting views of the hydrophobic interactions of UCB with bile salts were presented: one suggested that multiple bile salt monomers bind to one UCB molecule; the other suggested that UCB binds to the nonpolar surface of helical bile salt micelles. (3) Structures were proposed for the varied calcium and copper bilirubinate salts formed at various pH values and cation/UCB ratios. (4) Studies of binding of UCB to human serum albumin (HSA) showed marked diminution of UCB-binding affinity as albumin and chloride concentrations increased. (5) A unique UCB derivative, bilirubin-C10-sulfonic acid, was identified as the major bile pigment in bullfrog bile. (6) New methods were presented for removal of impurities from preparations of bile salts and UCB. Findings of studies in the transport area were as follows. (1) Four putative basolateral and two putative canalicular hepatocytic transporters of UCB and related organic anions were described. Special emphasis was given to the adenosine triphosphate (ATP)-dependent canalicular multi-specific organic anion transporter that is defective in three strains of mutant rats with congenital conjugated hyperbilirubinemia. (2) The roles of the classical and newer molecular biological approaches to identification of these transporters were contrasted, and their limitations were discussed. (3) The relative roles of the multiple carriers in UCB transport under different conditions and substrate concentrations were discussed. (4) Cytosolic UCB-binding proteins (e.g., ligandin) were shown to promote transcellular movement of UCB by solubilizing and transporting the pigment in the aqueous phase while limiting binding of UCB to the relatively immobile membranes of cell organelles. (5) Mechanisms were presented for translocation of UDP-glucuronic acid (UDPGA) into the lumenal location of UDPGA transferase in the endoplasmic reticulum, as well as the enhancement of this process by N-acetyl-glucosamine. Studies in the neonatal and congenital jaundice area were as follows. (1) Criteria were reviewed for initiating treatment of neonatal jaundice, emphasizing the primacy of serum bilirubin levels, gestational age, and hemolysis as risk factors for kernicterus. (2) New methods were presented for frequent, automated monitoring of serum bilirubin levels and breath CO levels as an index of rates of formation of UCB from heme. (3) The current status and limitations of new approaches to treatment of severe unconjugated hyperbilirubinemia were discussed: hepatocyte transplantation and gene therapy, still in the stage of development in animal models, have provided only partial and temporary relief of hyperbilirubinemia; extracorporeal liver assist devices have had some success in initial human studies; and inhibition of heme oxygenase (HO) with metalloporphyrins, especially tin mesoporphyrin, which markedly decreases bilirubin production for prolonged periods, is a new alternative to phototherapy. (4) The ontogeny of the two HO isozymes was contrasted in the liver, spleen, kidney, and lung.

Animals↗
PubMed1980

General report on the Second International Workshop on Chromosomes in Leukemia.

The workshop participants were able to establish that the t(8;21) and t(15;17) are each definitely associated with a particular type of ANLL, namely, AML-M2 and APL-M3 and M3 variant, respectively. Both translocations, particularly the t(15;17), have an uneven geographical distribution which cannot presently be explained. The data also show that patients with preleukemia and an abnormal karyotype have a very poor prognosis with a fatal outcome in 60%, compared with only 30% for patients with a normal karyotype.

Chromosome Aberrations↗
PubMed1994

Statistical analysis of data from the Third International IALSC Workshop on Lung Tumor and Differentiation Antigens.

The main aim of the statistical analysis of data collected in the Third International IALSC Workshop on Lung Tumor and Differentiation Antigens, was to identify groups of monoclonal antibodies (MAbs) having similar profiles of reactivity against a variety of cell types in flow cytometry, histology, immunofluorescence and immunocytochemistry experiments. This was achieved through cluster analysis. We describe the methods used in the cluster analysis, and in the data processing leading to it.

Antibodies, Monoclonal↗
PubMed2002

Adjuncts in diagnosis, prognosis, and clinical monitoring of breast, gynecologic, and hematolymphopoietic malignancies: Third Joint International Workshop, Lacco Ameno d'Ischia, Italy, October 2001.

The aim of the third edition of this workshop was to address the most relevant topics and the latest achievements in the diagnosis, prognosis, and clinical monitoring of breast, gynecologic, and hematolymphopoietic malignancies. As with the two previous editions, scientific leaders in the fields of pathology, clinical oncology, and basic research have been gathered together to promote a continuous flow of theoretical and practical information among basic research, diagnosis, and therapeutic innovation in order to achieve timely and effective progresses in defeating human cancer.

Breast Neoplasms↗
PubMed1985

Workshop on the bone-joint implant interface.

A workshop on the bone-implant interface, as related to loosening of total joint implants, was held in Chicago on September 14-16, 1983. More than 60 orthopaedic clinicians and researchers and basic connective tissue biologists met to review problems and potential solutions to joint implant loosening. The following is a synopsis of the presentations and discussions.

Bone Cements↗
PubMed1986

A matrix for controlled clinical trials for the study of hepatic metastases: proceedings of a workshop.

A summary of a workshop held to synthesize the essential elements constituting protocols for the study of new treatments for patients with hepatic metastases is reported. An attempt was made to formulate a consensus on issues of importance in future collaborative research. A staging system was proposed that was though to be usable by clinicians. The eligibility requirements for surgical resection of hepatic metastases and for the nonsurgical treatment of hepatic metastases is discussed. Criteria for the response to treatment were formulated. The selection of appropriate control groups for new treatment strategies was discussed.

Carcinoembryonic Antigen↗
PubMed1987

Metaiodobenzylguanidine (MIBG) labeled with 123I/131I in neuroblastoma diagnosis and follow-up treatment with a review of the diagnostic results of the International Workshop of Pediatric Oncology held in Rome, September 1986.

Our experience in scintigraphic diagnosis using 123I/131I-metaiodobenzylguanidine (MIBG) on 37 children with neuroblastomas stage III-IV is reported and discussed, together with the results obtained by other authors on MIBG diagnosis at the International Workshop of Pediatric Oncology held in Rome in September 1986. In our own investigation, 49 examinations were undertaken with 123I-MIBG and 66 with 131I-MIBG partly under therapy conditions with high-activity doses of 131I-MIBG. There were 29 neuroblastomas, 3 ganglioneuromas, and 3 ganglioneuroblastomas. The localization of all primary tumors was over 90%; for neuroblastomas with a high level of catecholamine excretion, over 95%. The specificity was about 100%. The sensitivity with respect to tumor relapse and all localization of metastasis and bone-marrow tumor infiltration in the follow-up-phase approaches was 70% during or after therapy. What emerges from the experience of most investigators is that 123I-MIBG is the agent best suited to detect tumor relapse and metastasis, especially in the bone marrow. MIBG examinations are of great value in follow-up studies for detecting tumor relapse and bone marrow infiltrations, especially before the onset of clinical symptoms and other indications.

3-Iodobenzylguanidine↗
PubMed2005

State of the Art and Future Needs in Cytogenetic/Molecular Genetics/Arrays in childhood lymphoma: summary report of workshop at the First International Symposium on childhood and adolescent non-Hodgkin lymphoma, April 9, 2003, New York City, NY.

BACKGROUND: A significant number of studies describe the cytogenetics and molecular genetics of adult non-Hodgkin lymphoma (NHL); however, similar knowledge is lacking regarding pediatric NHL. METHODS: A workshop to discuss the "State of the Art and Future Needs in Cytogenetic/Molecular Genetics/Arrays" in pediatric NHL was held in conjunction with the First International Symposium on Childhood and Adolescent Non-Hodgkin Lymphoma on April 9, 2003 in New York City. RESULTS: Cytogenetic characteristics of pediatric NHL include 14q11.2 rearrangements in T-cell lymphoblastic leukemia/lymphomas (LBL), ALK rearrangements in anaplastic large cell lymphomas (ALCL), and CMYC translocations in both Burkitt and Burkitt-like lymphomas (BL/BLL). Pediatric diffuse large B-cell lymphoma (DLBCL) is cytogenetically different from DLBCL in adults, suggesting a different disease in children. Microarray studies demonstrate three types of T-cell leukemia, the leukemic counterpart of LBL, that block T-cell differentiation at different stages of T-cell development, corresponding to LYL, TAL1, and HOX-expressing leukemias. ALCL cell lines have a unique expression profile compared to normal T-cells. Germinal centers of BL have CMYC expression signatures, indicating that CMYC expression is ectopic and does not reflect the physiology of the normal cell counterpart. CONCLUSIONS: Additional cytogenetic, molecular and microarray investigations of NHL in children are vital to better understand these diseases, their etiology, and differences from adult NHL. A greater understanding of pediatric NHL will lead to disease-specific and patient-individualized therapies of these diseases.

Adolescent↗
PubMed2004

"Does understanding the brain need proteomics and does understanding proteomics need brains?"--Second HUPO HBPP Workshop hosted in Paris.

The second Human Brain Proteome Project (HBPP) Workshop of the Human Proteome Organisation (HUPO) took place at the Ecole Supérieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI) from April 23-24, 2004. During two days, more than 70 attendees from Europe, Asia and the US came together to decide basic strategic approaches, standards and the beginning of a pilot phase prior to further studies of the human brain proteome. The international consortium presented the technological and scientific portfolio and scheduled the time table for the next year.

Animals↗
PubMed2005

Further steps in standardisation. Report of the second annual Proteomics Standards Initiative Spring Workshop (Siena, Italy 17-20th April 2005).

The spring workshop of the HUPO-PSI convened in Siena to further progress the data standards which are already making an impact on data exchange and deposition in the field of proteomics. Separate work groups pushed forward existing XML standards for the exchange of Molecular Interaction data (PSI-MI, MIF) and Mass Spectrometry data (PSI-MS, mzData) whilst significant progress was made on PSI-MS' mzIdent, which will allow the capture of data from analytical tools such as peak list search engines. A new focus for PSI (GPS, gel electrophoresis) was explored; as was the need for a common representation of protein modifications by all workers in the field of proteomics and beyond. All these efforts are contextualised by the work of the General Proteomics Standards workgroup; which in addition to the MIAPE reporting guidelines, is continually evolving an object model (PSI-OM) from which will be derived the general standard XML format for exchanging data between researchers, and for submission to repositories or journals.

Mass Spectrometry↗
PubMed2006

Human Disease Glycomics/Proteome Initiative Workshop and the 4th HUPO Annual Congress.

At the Human Disease Glycomics/Proteome Initiative workshop held on August 27 on the occasion of the fourth HUPO Congress in Munich, Germany, the working groups reported on pilot studies, performed by 21 laboratories world-wide, to analyze glycan using MS. During the steering committee on July 31 in Osaka, Japan, it was reported that these groups have developed a system using MS to assess the world-wide network on the screening of congenital disorders of glycosylation. The concept of glycobioinformatics was also explained at this meeting. The session on PTMs laid particular emphasis on the importance of functional glycomics using glycosyltransferase genes as well as on the importance of identifying the target protein(s) carrying the sugar chains.

Carbohydrates↗
PubMed2006

Autumn 2005 Workshop of the Human Proteome Organisation Proteomics Standards Initiative (HUPO-PSI) Geneva, September, 4-6, 2005.

The autumn workshop of the Proteomics Standards Initiative of the Human Proteomics Organisation met to further advance the development of the existing standards in the fields of molecular interactions and mass spectrometry. In addition, new areas were addressed, in particular developing standards for the description and exchange of data from gel electrophoresis experiments. The General Proteomics Standards group is now working closely with the FuGE (Functional Genomics Experiment) efforts to define a general standard in which to encode data that will enable a systems biology approach to data analysis. Common to all these efforts is the field of protein modifications, and work has been initiated to establish an ontology in this field that can be used by both workers in the field of proteomics and the wider scientific community.

Databases, Protein↗
PubMed2006

Bridging Proteomics and Medical Science - the 5th HUPO Brain Proteome Workshop in Dublin, Ireland.

More than 70 interested colleagues attended the 5th Workshop of the HUPO Brain Proteome Project (HUPO BPP) at the UCD Conway Institute, Dublin, Ireland. An overview of the outcome of the pilot study was presented and the new subprojects "Clinical Neuroproteomics of Human Body Fluids" as well as "Cerebellum 2D-mapping" were announced. In addition the election of the HUPO BPP committees and the future directions of this project were discussed and decided. The meeting was enhanced by several talks highlighting the application of proteomics in biomedical research.

Animals↗
PubMed2006

Proteomics and Beyond: a report on the 3rd Annual Spring Workshop of the HUPO-PSI 21-23 April 2006, San Francisco, CA, USA.

The theme of the third annual Spring workshop of the HUPO-PSI was "proteomics and beyond" and its underlying goal was to reach beyond the boundaries of the proteomics community to interact with groups working on the similar issues of developing interchange standards and minimal reporting requirements. Significant developments in many of the HUPO-PSI XML interchange formats, minimal reporting requirements and accompanying controlled vocabularies were reported, with many of these now feeding into the broader efforts of the Functional Genomics Experiment (FuGE) data model and Functional Genomics Ontology (FuGO) ontologies.

Animals↗
PubMed1993

Report of National Institute of Child Health and Human Development Workshop on Chorionic Villus Sampling and Limb and Other Defects, October 20, 1992.

A Workshop on Chorionic Villus Sampling (CVS) was convened by the National Institute of Child Health and Human Development (NICHD) and the American College of Obstetricians and Gynecologists at the National Institutes of Health on April 17, 1992, to discuss recent reports of an increased occurrence of malformations of the upper and lower limbs and oral structures among CVS-exposed infants. We summarize here the defects described in the CVS-exposed infants, the retrospective reassessments of published studies of the safety of CVS, the prevalence of limb deficiencies in infants not exposed to CVS, the status of the 7-9 week (conception or fertilization age) embryo, and the relevant human and animal experimental models of how CVS might be harmful to the embryo or fetus.

Chorionic Villi Sampling↗
PubMed1998

Initiation of DNA replication in phages and plasmids-a workshop summary.

Recent progress in understanding initiation mechanisms of DNA replication was discussed by some 30 speakers from Europe and U.S.A. in a workshop funded entirely by the Juan March Foundation of Madrid. Several speakers were postdoctoral associates and were selected from poster presenters. This was probably the first meeting at which phage and plasmid systems were given top billing together. The confluence was highly successful because of considerable overlap in strategies employed by the two systems. Mechanistic studies on DNA replication started with phage and the lessons learned have guided the thinking on eukaryotic DNA replication (Stillman, J. Biol. Chem. (1994) 269, 7047). The research on bacterial plasmids has also been pioneering in defining the principles of initiation control and has unraveled novel biological regulatory mechanisms such as antisense control.

Bacteriophages↗