ECLAMC: the Latin-American collaborative study of congenital malformations

DEFINITION: ECLAMC ('Estudio Colaborativo Latino Americano de Malformaciones Congenitas') is a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Latin-American hospitals, using a case-control methodological approach. It is a voluntary agreement among professionals lacking institutional base as well as designated budgets. ECLAMC has been usually funded by research-funding agencies rather than public health ministries. The National Research Councils of Argentina and Brazil have been the main sources of support during its 36 years of existence. Since vital and health statistics are unreliable in South America, ECLAMC collects all the information required for the denominators in a hospital-based sample of births. ECLAMC can be defined as a continental network of persons interested in research and prevention of birth defects. HISTORY AND EVOLUTION: From the institutional point of view, ECLAMC has had headquarters in diverse centers of Argentina and Brazil, but always as an independent research project, without a defined administrative link. ECLAMC began operating in 1967, as an investigation limited to the city of Buenos Aires, Argentina, and it gradually expanded until covering all the 10 countries of South America as well as Costa Rica and the Dominican Republic. Even though ECLAMC has maintained essentially the same original experimental design since 1967, due to the data accumulated by the program, the increasing experience as well as the development in science, technical modifications occurred including a DNA bank and a fully informatized data handling system. Since 1974 ECLAMC has been a founder member of the International Clearinghouse for Birth Defects Monitoring Systems; since 1994 a WHO Collaborating Center for the Prevention of Congenital Malformations, and since 2000 a collaborating member of the NIH Global Netwok for Women's and Children's Health Research. METHODOLOGY: The maternity hospital network of ECLAMC examines around 200,000 births per year. All major and minor anomalies diagnosed at birth in infants weighing 500 g or more are registered according to a manual of procedures. The next non-malformed baby of the same sex born in the same hospital is selected as a control subject for each case. Thus, a one-to-one healthy control group matched by sex, time and place of birth is obtained. As a system of epidemic surveillance, ECLAMC systematically observes the fluctuations in the frequencies of different malformations and, in the case of an alarm for a probable epidemic of a given malformation, at a given moment, and given area, it acts to identify its cause. As termination of pregnancy has severe legal restrictions in South America, prevention of birth defects should concentrate on primary, preconceptional and tertiary measures. Tertiary measures aim to avoid complications of the affected patients from the medical, psychological, and social standpoints.     

The Human Genome Project,genetics and health

Three main reasons why a genetic approach is unlikely to be a solution to common diseases in the foreseeable future are discussed. The first is the great importance of environmental circumstances in determining health, the second reason is the great complexity of gene/gene, gene/environment interactions, and the third reason is human behavior with regard to compliance with medical recommendations. Since particular interests are likely to push for a genetic approach to disease, there will be a need to protect the public interest so that premature and inappropriate use of genetics is not made, and so that a balanced opportunity to better the health of all is not missed.     

Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation

The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical genetics; (b) the conduct of epidemiological research on the prevalence and types of birth defects, genetic disorders and genetic predispositions to common diseases; (c) the education of health professionals in genetics; (d) the education of genetic professionals in community health and public health genetics; (e) the fostering of interactions between clinical geneticists, public health personnel, primary health care workers and community organizations, and (f) a better planning of regionalized services to avoid duplication and inefficiency.     

Community genetics: a bridge between clinical genetics and public health

Clinical genetics and public health differ in their subjects; in who takes the initiative; in their aims, methods and outcome measures, and therefore in their ability to handle sensitive issues. They are seemingly incompatible. Nevertheless, they can be reconciled in community genetics. Community genetics combines the best from clinical genetics and public health. It shares with clinical genetics its aim of empowerment, its methods of information and support, its outcome measures and its possibility to handle sensitive issues. It has in common with public health its subjects; the origin of its initiatives, and non-reproductive prevention. In general, communities can be defined at different levels: geographically, linguistically, socially or genetically. Genetic communities can also be defined at different levels: on the basis of common heritage, on the basis of common practice, or on the basis of common problems.     

基于规则网络的碳酸盐岩多尺度网络模型构建方法研究

碳酸盐岩油藏非均质性强,孔隙大小变化可达好几个数量级,描述碳酸盐岩油藏多尺度孔隙特征具有重要意义.本文首先基于三维规则网络模型建立了不同物理尺寸的溶洞网络、大孔隙网络和微孔隙网络;然后提出一种耦合算法,以溶洞网络为基础,通过添加适当比例的大孔隙和微孔隙,构建出碳酸盐岩多尺度网络模型;最后对比分析了各网络模型的几何性质、拓扑性质和绝对渗透率.结果表明,碳酸盐岩多尺度网络模型能够同时描述不同尺度孔隙的几何和拓扑特征;且相比各单一尺度的孔隙网络模型,多尺度网络模型有着较高的绝对渗透率,这是由于各尺度孔隙之间的相互连通极大地提高了网络的整体连通性和流动能力,为碳酸盐岩油藏微观渗流模拟提供了重要的研究平台.     

The Hungarian periconceptional service as a model for community genetics

OBJECTIVES: This review describes the methods and results of the Hungarian periconceptional service consisting of counselling, examinations and medical interventions. (The term periconceptional is used instead of preconceptional because the early postconceptional period is also involved to this service.) METHODS: The service was based on three steps: check-up examination of reproductive health (i.e., preconceptional screenings), a 3-month preparation for conception, dispensed and/or supervised by qualified nurses, and a better protection in early pregnancy for the most sensitive early development of the embryo for voluntary and eligible couples. RESULTS: Experiences from the coordinating centre of the Hungarian periconceptional service are summarized between February 1, 1984, and January 31, 1999, thus 15 years. Participants with positive family histories, case histories and subjects with genito-urinary infections had a more effective flow towards secondary care. Infertile couples were diagnosed and treated sooner. The periconceptional service is effective for the introduction of periconceptional folic acid-containing multivitamin supplementation and for the reduction of smoking and alcohol consumption in females in the preconceptional period. The rate of major congenital abnormalities (20.6 per 1,000) was significantly lower than expected. CONCLUSIONS: The periconceptional service is feasible and has many benefits. Thus, proper preparation for conception is the earliest and probably the most important effort to prevent genetic diseases.     

The history of community genetics: the contribution of the haemoglobin disorders

The emerging possibilities of applying new diagnostic technologies for genetic diagnosis and screening point to the need for a discipline of community genetics. Genetic population screening for haemoglobin disorders (thalassaemias and sickle cell disorders) has been practised on a large scale for over 20 years, and basic concepts and methods of community genetics have been developed within this framework, under the auspices of the WHO. Genetic population screening is a public health activity. It involves many disciplines, and planning depends on reliable and regularly updated information. Basic methods for describing genetic epidemiology in terms of service needs, and for regular service audit have been developed, and IT-based approaches for making simple, accurate and diagnosis-specific information accessible to the public and health professionals are being explored.     

Medical genetics in Peru

Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state's health policy does not contemplate any action on congenital or genetic conditions, and genetic services are considered a very low priority. In spite of this, some of the best medical schools have undergraduate and graduate programs in genetics, and there is a growing group of specialists that makes its best to impulse the practice of medical genetics in Peru. Many ethical and legal dilemmas, common to other countries in the region, and derived from social inequality, and political, cultural and religious factors, are also faced in everyday practice.     

Medical genetics in Paraguay

Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting. Maternal mortality rate is alarmingly high at 110.9 per 100,000 livebirths, reaching 420.5 in rural areas. There are only two clinical geneticists and four biochemists trained in human genetics, and virtually all genetic services in the country are concentrated in the 'Instituto de Investigaciones en Ciencias de la Salud' (IICS) from the National University. The teaching of medical genetics in medical schools is included in physiology and pathology courses, while at the postgraduate level, training in medical genetics is limited to pediatrics and gynecology. In 1999, a pilot newborn screening program was initiated to determine the frequency of congenital hypothyroidism and phenylketonuria and to provide early treatment for affected babies. Another pilot project recently launched by the Ministry of Health is the Program for the Prevention of Neural Tube Defects, mandating folic acid fortification of flour, but as of the end of 2003 it had not been implemented. Paraguay lacks adequate resources to provide accurate diagnoses and treatment of genetic conditions.     

Remote synchronization in human cerebral cortex network with identical oscillators

Nonlinear Dynamics - Remote synchronization (RS) has recently received an increasing interest in the systems of nonidentical oscillators, but little attention has been paid to the systems of...     

Thermodynamics and evolutionary genetics

Thermodynamics and evolutionary genetics have something in common. Thus, the randomness of mutation of cells may be likened to the random thermal fluctuations in a gas. And the probabilistic nature of entropy in statistical thermodynamics can be carried over to a population of haploid and diploid cells without any conceptual change. The energetic potential wells in which the atoms of a liquid are caught correspond to selective advantages for some phenotype over others. Thus, the eventual stable state in a population comes about as a compromise in the universal competition between entropy and energy.     

Population genetics and benefit sharing

The majority of international or national guidelines, specific to human genetics concentrate on actual or potential clinical applications. In contrast, the Ethics Committee of the Human Genome Organisation (HUGO) attempts to provide guidance to the bench scientists engaged in fundamental research in genomics prior to any clinical applications. Often confused as constituting the Human Genome Project (HGP) itself, HUGO's (Human Genome Organization) ultimate goal is to assist in the worldwide collaboration underpinning the HGP. It is an international organisation with 1,229 members in approximately 60 countries. The Ethics Committee is one of HUGO's six international advisory committees. Composed of experts from a number of countries and disciplines, the HUGO Ethics Committee promotes discussion and understanding of social, legal, and ethical issues as they relate to the conduct of, and knowledge derived from, the Genome Initiative. Currently, it has 13 members from 11 difference countries. It has produced statements on the conduct of genetic research, on cloning, and, has most recently presented a 'Statement on Benefit-Sharing', April 11, 2000. The Intellectual Property Committee of HUGO has been active in the controversial area of patenting. The issue of benefit-sharing is one that has its source in the mandate of both committees. How to avoid both commodification of the person through payment for access to DNA and biopiracy with no return to benefits to the families or community? While patents are a legitimate form of recognition for innovation, there seems to be no therapeutic exception to some of its stringent rules and the 'morality' exclusion has lain dormant. The HUGO 'Statement on Benefit-Sharing' examines the issues of defining community, common heritage, distributive justice and solidarity before arriving at its conclusions in benefit-sharing. This communication reviews some of these issues.     

Nonlinear diffusion in population genetics

Archive for Rational Mechanics and Analysis -     

The role of the World Health Organization in promoting medical genetics in Latin America

The Human Genetics Program of the World Health Organization (WHO) has analyzed the needs for genetic services worldwide and the promotion of genetic approaches for the prevention of diseases linked to primary health care. This article presents a summary of the most important initiatives of the WHO in this field, which have served as a background for the Consultation in Medical Genetics in Latin America, which took place in Porto Alegre, Brazil, in June 19, 2003, and whose working reports are published in this special issue of Community Genetics.