International Nomenclature Research Articles

The Aristotle score: a complexity-adjusted method to evaluate surgical results.

Quality control is difficult to achieve in Congenital Heart Surgery (CHS) because of the diversity of the procedures. It is particularly needed, considering the potential adverse outcomes associated with complex cases. The aim of this project was to develop a new method based on the complexity of the procedures. The Aristotle project, involving a panel of expert surgeons, started in 1999 and included 50 pediatric surgeons from 23 countries, representing the EACTS, STS, ECHSA and CHSS. The complexity was based on the procedures as defined by the STS/EACTS International Nomenclature and was undertaken in two steps: the first step was establishing the Basic Score, which adjusts only the complexity of the procedures. It is based on three factors: the potential for mortality, the potential for morbidity and the anticipated technical difficulty. A questionnaire was completed by the 50 centers. The second step was the development of the Comprehensive Aristotle Score, which further adjusts the complexity according to the specific patient characteristics. It includes two categories of complexity factors, the procedure dependent and independent factors. After considering the relationship between complexity and performance, the Aristotle Committee is proposing that: Performance = Complexity x Outcome. The Aristotle score, allows precise scoring of the complexity for 145 CHS procedures. One interesting notion coming out of this study is that complexity is a constant value for a given patient regardless of the center where he is operated. The Aristotle complexity score was further applied to 26 centers reporting to the EACTS congenital database. A new display of centers is presented based on the comparison of hospital survival to complexity and to our proposed definition of performance. A complexity-adjusted method named the Aristotle Score, based on the complexity of the surgical procedures has been developed by an international group of experts. The Aristotle score, electronically available, was introduced in the EACTS and STS databases. A validation process evaluating its predictive value is being developed.

Genetic diversity of mumps virus in oral fluid specimens: application to mumps epidemiological study.

Three hundred nine mumps virus (MuV) strains detected in the United Kingdom during 1995-2002 were characterized by partial sequencing of the small hydrophobic gene and were shown to belong to at least 6 different genotypes. A strain representing a new genotype was isolated from a seminal fluid specimen. Identical strains belonging to genotypes G and C were found to circulate for up to 3 years. One genotype H strain reappeared after an absence of 4 years. Distinct lineages (G1-G7) within genotype G were recognizable in the present study, and this level of characterization proved to be very useful for tracking MuV importations and subsequent transmission. We propose, here, a preliminary standardization of international nomenclature for genetic characterization of MuV strains, to facilitate future molecular epidemiological studies of mumps. Oral fluid (OF) specimens (n=1441) were used to detect both anti-MuV IgM and MuV genome, and the results indicate that OF specimens can be used successfully for diagnosis and have the potential to play a valuable role in diagnosis and surveillance of mumps.

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

We describe a pedigree of Anglo-Celtic origin with a phenotypically unique form of dominantly inherited spinocerebellar ataxia (SCA) in 14 personally examined affected members. A remarkable observation is dentate nucleus calcification, producing a low signal on MRI sequences. Unusually for an SCA, dysarthria is typically the initial manifestation. Mild pyramidal signs and hypermetric saccades are noted in some. Its distinguishing clinical features, each present in a majority of affected persons, are palatal tremor, and a form of dysphonia resembling spasmodic dysphonia. Repeat expansion detection failed to identify either CAG/CTG or ATTCT/AGAAT repeat expansions segregating with the disease in this family. The testable SCA mutations have been excluded. On linkage analysis, the locus maps to chromosome 11, which rules out all the remaining mapped SCAs except for SCA5. While locus homogeneity with SCA5 is not formally excluded, we consider it rather unlikely on phenotypic grounds, and propose that this condition may represent an addition to the group of neurogenetic disorders subsumed under the rubric SCA. The International Nomenclature Committee has made a provisional assignment of 'SCA20', although firm designation will have to await a definite molecular distinction from SCA5.

The Aristotle score for congenital heart surgery

The aim of the Aristotle project was to develop a new method of evaluation of quality of care in congenital heart surgery based on the complexity of the surgical procedures. Involving a panel of expert surgeons, the project started in 1999 and included 50 pediatric surgeons from 23 countries representing International Scientific Societies. The complexity was based on the procedures as defined by the Society of Thoracic Surgeons (STS)/European Association for Cadiothoracic Surgery (EACTS) International Nomenclature and was undertaken in two steps: The first step was establishing the Basic Score, which adjusts only the complexity of the procedures and is based on three factors: the potential for mortality, the potential for morbidity, and the anticipated technical difficulty. The second step was the development of the Comprehensive Score, which further adjusts the complexity according to the specific patient characteristics .The Aristotle score allows precise scoring of the complexity for 145 congenital heart surgery procedures. One interesting concept coming out of this study is that complexity is a constant and precise value for a given patient regardless of the center where he is operated. The Aristotle method allows proposing the following equation of quality of care: Complexity FN Outcome = Performance. The Aristotle score, electronically available, was introduced in the EACTS and STS databases. A validation process, designed to evaluate its predictive value, is being developed.

An autecological study of the potentially toxic dinoflagellate Alexandrium affine isolated from Vietnamese waters

The potentially toxic dinoflagellate species Alexandrium affine isolated from Ha Long Bay (Tonkin Gulf), Vietnam was cultured and maintained for morphological, physiological and toxicological studies. Classical morphological examinations including plate pattern were in good agreement with the international nomenclature of the species. The fine structure of A. affine, including morphology of its developmental stages during vegetative and sexual reproduction was found to be typical of other species in the genus. Two general trends in growth of A. Affine from Vietnamese waters were apparent: (1) growth rates were low at low salinities (10 and 15 psu) in all experimental temperatures (21–27 °C); (2) growth rates were high at salinities 25, 30, and 35 psu in all temperatures. There were no significant differences in growth rates at different salinities at low temperature (21 °C), and the most significant difference in growth rate was between high temperature–high salinity and high temperature–low salinity. The optimum temperature and salinity for growth were 24 °C and 30 psu. Maximum division rates per day (0.5–0.7) were at salinities 30 and 35 psu and at temperatures 24 and 27 °C. But the best conditions for division rate were 21 and 24 °C at salinities 30 and 35 psu. Toxicity analyses indicated A. affine to be both toxic and non-toxic at certain times. In the former case, toxicity was very low, 2.28 fmol per cell; the toxicity component of A. affine was compared with that of A. leei and the mussel Perna viridis including neoSTX, STX, and GTX 1–GTX 4.

Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes.

The classical view of what constitutes an "allele" has been challenged by recent findings of a great deal of human genetic variability, i.e., we can expect, on average, one variant site every 100-250 bases of our haploid genome. The haplotype is defined as "the patterns of co-occurrence of variant sites on the same chromosome" (and therefore within each particular gene). Sufficient evidence exists for the divergence of haplotypes during evolution of Homo sapiens sapiens, and the total number of haplotypes per gene will reflect the amount of time any particular ethnic group has existed on the planet, e.g., greatest in Africans, fewer in East Asians, and still fewer in Caucasians. If the average gene spans 30 kb, we can expect approximately 170 polymorphic variant sites per gene in the world population. We do not see 2(170) haplotypes, however; we might find only 10 to 200 haplotypes (depending on the gene's size and degree of conservation of the gene product). This finite number allows for a reasonable haplotype nomenclature system for each gene, based on evolutionary divergence. For polymorphic variants (i.e., frequency > or = 0.01), I propose using Arabic numerals for the major clades (e.g., *1, *2, em leader *20, *21), capital letters for sublineages (e.g., *2A, *2B, *2C), and Arabic numerals for sub-sublineages (e.g., *22G12, *22G13); additional subcategories may be added, in an alternating number/letter/number/letter sequence, depending on the complexity of present-day haplotypes of a particular gene. Web sites with a web master and external advisory committee should be set up for each gene superfamily, family, or individual gene (depending on complexity), and an international haplotype nomenclature committee, perhaps comprised of several dozen of these web masters, should oversee haplotype nomenclature for the entire human genome. The higher heterozygosity and multiallelic nature makes haplotypes more informative than biallelic SNPs. Ultimately, our knowledge of haplotype patterns, rather than single variant sites, of perhaps several hundred genes will likely be helpful in finding associations between genotype and any multiplex phenotype (e.g., complex diseases including cancer, and/or toxicity of pharmaceutical agents or environmental pollutants).

Congenital heart surgery nomenclature and database project. Update and proposed data harvest.

In 1998, the first report of the Society of Thoracic Surgery (STS) National Congenital Heart Surgery Database defined clinical features for 18 congenital heart disease categories, providing a significant amount of important information and pinpointing database strengths and weaknesses. Following this report, the STS Congenital Heart Surgery Committee, working with the European Association of Cardio-Thoracic Surgery and the European Congenital Heart Surgeons Foundation, initiated the International Congenital Heart Surgery and Nomenclature Database Project. To standardize nomenclature and reporting strategies and establish a foundation for an international congenital heart surgery database. The project's first report was published in the Annals of Thoracic Surgery in April 2000. The current report outlines modifications to the minimal dataset and diagnosis and procedure short lists.

Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis

Aromatic and heterocyclic amines require metabolic activation to electrophilic intermediates that initiate carcinogenesis. N-Acetyltransferase 1 (NAT1) and 2 (NAT2) are important enzymes in the biotransformation of these carcinogens and exhibit genetic polymorphism. Human NAT1 and NAT2 alleles are listed at: http://www.louisville.edu/medschool/pharmacology/NAT.html by an international gene nomenclature committee. The high frequency of the NAT1 and NAT2 acetylation polymorphisms in human populations together with ubiquitous exposure to aromatic and heterocyclic amines suggest that NAT1 and NAT2 acetylator genotypes are important modifiers of human cancer susceptibility. For cancers in which N-acetylation is a detoxification step such as aromatic amine-related urinary bladder cancer, NAT2 slow acetylator phenotype is at higher risk. Multiple studies have shown that the urinary bladder cancer risk is particularly high in the slowest NAT2 acetylator phenotype or genotype ( NAT2 ∗ 5). In contrast, for cancers in which N-acetylation is negligible and O-acetylation is an activation step such as for heterocyclic amine-related colon cancer, NAT2 rapid acetylator phenotype is at higher risk. Although studies have found associations between NAT1 genotype and various cancers, the findings are less consistent and are not well understood. Since cancer risk requires exposure to aromatic and/or heterocyclic amine carcinogens modified by NAT1 and/or NAT2 acetylator genotype, the results from human epidemiology studies are dependent upon the quality and accuracy of the exposure assessment and genotype determination. Conclusions require understanding the relationship between genotype and phenotype, as well as the role of genetic variation in carcinogen metabolism, DNA repair, and host susceptibility. Investigations have been carried out in rapid and slow acetylator rodent models in which both exposure and genetic variability are tightly controlled. Human NAT1 and NAT2 alleles have been characterized by recombinant expression to further understand the effects of nucleotide polymorphisms on function and phenotype.

Congenital Heart Surgery Nomenclature and Database Project: update and proposed data harvest.

In 1998, the first report of the Society of Thoracic Surgery (STS) National Congenital Heart Surgery Database reported the clinical features of 18 congenital heart categories. The report provided a significant amount of important information and also highlighted the strengths and weaknesses of the existing database. Following this report, the STS Congenital Heart Surgery Committee, in cooperation with the European Association of Cardio-Thoracic Surgery and the European Congenital Heart Surgeons Foundation, initiated the International Congenital Heart Surgery and Nomenclature Database Project. The goal was to begin the standardization of nomenclature and reporting strategies and establish the foundations for an international congenital heart surgery database. The first report of the International Congenital Heart Surgery Nomenclature Project was published in the Annals of Thoracic Surgery in April 2000. The current report outlines modifications to the minimal dataset, as well as the diagnosis and procedure short lists.

The Mutant Mouse Behaviour network: A medium to present and discuss methods for the behavioural phenotyping

The nonprofit international Mutant Mouse Behaviour network “MMB” was founded within the framework of the conference “Behavioural Phenotyping of Mouse Mutants”, February 2000, held in Cologne, Germany. It intends to be a forum for presenting and discussing all topics dealing with the behavioural phenotyping of mice. The major aim of the MMB is to support the interdisciplinary finding of a consensus on the methods and techniques used for behavioural phenotyping of mouse mutants. That means that scientist involved in the development of mouse models have to consent to the fact that a consideration of all the parameters that might affect the behaviour is necessary. Finding and establishing a consensus is a fluent process based on a continuous exchange of information. The network will provide a standardised database that includes detailed descriptions of test methods and of the relevant background parameters that might influence the behaviour of mice. Information will range from detailed descriptions of test methods, specifications of the equipment used, housing conditions, and specifications of the animals used according to the international nomenclature. The detailed descriptions will help in making behavioural tests and their results comprehensible and reproducible. A mailing list has been established to provide a platform for the continuous exchange of information between the network members. It will be a forum for discussing all topics related to behavioural phenotyping (see above). Scientists from all research areas involved are free to provide detailed information about their experimental work, and will, in return, get a quick response to their questions. Furthermore, the mailing list will be a useful medium to determine which information should be incorporated.

Current usage of nomenclature for parasitic diseases, with special reference to those involving arthropods.

Terminological confusion has been aggravated by efforts to develop a standardized nomenclature for parasitic diseases (SNOPAD) arising from the proposal by Kassai et al., 1988) for a standardized nomenclature of animal diseases (SNOAPAD). To restabilize international nomenclature of parasitic diseases it is recommended that, whenever appropriate, names should follow the 'International Nomenclature of Diseases' (IND) compiled by the Council for International Organizations for Medical Sciences (CIOMS/WHO, 1987). For diseases not included in IND, familiarity should guide the choice of name: traditional English language names of diseases should be preferred, e.g. 'malaria', 'scabies' or, for parasitic diseases having no traditional name, the taxonomic name of the causative organism should be applied, e.g. 'Brugia timori microfilaraemia'; 'Plasmodium malariae infection'; 'Simulium allergy'--instead of the generic derivatives proposed by SNOPAD, i.e. brugiosis, plasmodiosis and simuliidosis, respectively. For names of new diseases or those rarely mentioned, the suffix -osis would normally take precedence. Generally, the name of choice for any disease in any language should be the vernacular term, with commonest English usage preferred for international communication, and publications should include synonyms in the list of keywords.

Presentation of the International Nomenclature for Congenital Heart Surgery. The long way from nomenclature to collection of validated data at the EACTS

An International Nomenclature for Congenital Heart Surgery was officially adopted at the Annual Meeting of the EACTS in Glasgow, UK on September 6, 1999. This nomenclature was achieved following 1 year's work of the International Nomenclature and Data Base Committee for Congenital Heart Surgery of the Society of Thoracic Surgeons. This international group included members from the STS, AATS, AHA and EACTS and associated surgeons and cardiologists from United States, Canada, Australia and Europe. The Nomenclature includes a minimal data set of 21 items and lists of 150 diagnoses, 200 procedures, 32 complications and 28 extra cardiac anomalies and preoperative risk factors. It will serve as a basis for the Pediatric European Cardiac Surgical Registry (http://www.pediatric. ecsur.org). The outcome of such an International Nomenclature represents an important event for the medical community in charge of treating patients with congenital heart diseases. It will allow scientific exchanges on an international scale and promote multicenter evaluation of congenital heart surgery. Nevertheless, this Nomenclature is only the first step. Further collection of validated data at the Pediatric ECSUR Data Base requires ethical belief, time consumption and financial resources. Comparison of results, according to pathologies, across centers and countries will help define, in the future, official European standards of Quality of Care available for health care organizations, public scrutiny and governmental agencies.

International monitoring of adverse health effects associated with herbal medicines

Herbal medicines are used in health care around the world and may increase in importance. There is much uncertainty, however, with regard to their composition, efficacy and safety. There is substantial evidence that herbal medicines can cause serious adverse reactions, but more data are needed as regard their nature, frequency and preventability. In this respect the Uppsala Monitoring Centre of the World Health Organization can play a crucial role. Better reporting of adverse reactions to herbal medicines is needed, in particular with regard to the precise identity and composition of these products. A consistent use by producers, regulators and reporters of the international Latin binomial nomenclature and the use of the new Herbal Anatomical Therapeutic Chemical (ATC) classification are recommended. Copyright (c) 2000 John Wiley & Sons, Ltd.

Nomenclature for human DPYD alleles.

To standardize DPYD allele nomenclature and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele. Criteria for classification as a distinct allele are also presented.

International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone.

American Journal of Medical GeneticsVolume 79, Issue 5 p. 376-382 International nomenclature and classification of the osteochondrodysplasias (1997) First published: 06 December 1998 https://doi.org/10.1002/(SICI)1096-8628(19981012)79:5<376::AID-AJMG9>3.0.CO;2-HCitations: 89AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Citing Literature Volume79, Issue512 October 1998Pages 376-382 RelatedInformation

A report on the International Nomenclature Workshop Held May 1997 at the Jackson Laboratory, Bar Harbor, Maine, U.S.A.: Blake JA, Davisson MT, Eppig JT, et al. Genomics 45:464–468, 1997

A report on the International Nomenclature Workshop Held May 1997 at the Jackson Laboratory, Bar Harbor, Maine, U.S.A.: Blake JA, Davisson MT, Eppig JT, et al. Genomics 45:464–468, 1997

Contact and photocontact sensitivity to sunscreens. Review of a 15-year experience and of the literature.

This review summarizes published and unpublished data of our 15-year experience with sunscreen allergy and photoallergy. From 1981-1996, 402 patients with suspected clinical photosensitivity were patch and photopatch tested with the commercial sunscreens and facial cosmetics that they had used and with chemical UV absorbers, fragrance materials, preservatives, and emollients. 80 patients (20%) (28 men, 52 women) demonstrated allergic and/or photoallergic contact dermatitis to 1 or more UV absorber(s). In 47 patients with photodermatoses or photo-aggravated dermatoses and in 33 subjects with normal photosensitivity, 91 allergic and 84 photoallergic reactions to UV filters were observed. Over the years sunscreens were added to the test series, which since 1989 comprised the following 10 UV absorbers and which induced allergic (a) and photoallergic (pa) reactions (number, type of reaction): 4 UVA absorbers--isopropyldibenzoylmethane (30a/32pa); butyl methoxydibenzoyl-methane (15a/13pa); benzophenone-3 (3a/9pa); benzophenone-4 (0a/0pa); and 6 UVB absorbers--PABA (2a/2pa); octyl dimethyl PABA (1a/2pa); methylbenzylidene camphor (32a/5pa); octyl methoxycinnamate (3a/4pa); isoamyl p-methoxycinnamate (4a/10pa); and phenylbenzimidazole sulfonic acid (1a/7pa). The frequent (photo)sensitization to isopropyldibenzoylmethane was the reason that its production was discontinued in 1993. 47 patients reacted to fragrance materials, 11 to preservatives and 2 to lanolin alcohol. These constituents were contained in the commercial sunscreens and cosmetics that they had used. Continuous revision of the UV absorber photopatch test series was necessary to be closer to the real frequency of exposure and of reported (photo)allergy to newer sunscreens. Clinicians should consider contact and photocontact allergy, especially in patients with photodermatoses and photo-aggravated dermatoses, and they should perform photopatch testing. Once the culprit has been identified, its INCI (International Nomenclature Cosmetic Ingredients) designation should be given to the patient, who must be warned to avoid products containing the (photo)allergen.

Conversion of common names of cosmetic allergens to the INCI nomenclature.

We have made a list of substances that can be present in cosmetics and have been described as allergens, and compared their formerly more familiar names with International Nomenclature Cosmetic Ingredient (INCI) nomenclature, when different. The list should assist dermatologists in advising their patients allergic to cosmetic ingredients.

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations.

The gene whose alteration causes hereditary hemochromatosis (HFE according to the international nomenclature) was, more than 20 years ago, shown to map to 6p21.3. It has since escaped all efforts to identify it by positional cloning strategies. Quite recently, a gene named HLA-H was reported as being responsible for the disease. Two missense mutations, Cys282Tyr (C282Y) and His63Asp (H63D), were observed, but no proof was produced that the gene described is the hemochromatosis gene. To validate this gene as the actual site of the alteration causing hemochromatosis, we decided to look for the two mutations in 132 unrelated patients from Brittany. Our results indicate that more than 92% of these patients are homozygous for the C282Y mutation, and that all 264 chromosomes but 5 carry either mutation. These findings confirm the direct implication of HLA-H in hemochromatosis.

Report of the second meeting of the international rat genetic nomenclature committee (RGNC) held on august 20, 1996 in Toulouse, France

Report of the second meeting of the international rat genetic nomenclature committee (RGNC) held on august 20, 1996 in Toulouse, France