Establishment of Carrier Detection and Prenatal Diagnosis Service for Hemophilia in a Developing Country: Experience From International Hemophilia Training Center-Bangkok.

Abstract 3162 Background: Hemophilia is a hereditary bleeding disorder manifested by prominent bleeding in the musculoskeletal system. Patients with severe and moderate severity require life long administration of factor concentrates to replace the missing coagulation factors, otherwise they may end-up with morbidity and mortality in the early childhood period. Objective: To set-up carrier detection and prenatal diagnosis service for hemophilia all over Thailand. Methods: A study of DNA extraction from EDTA blood sent by surface mail without ice was previously conducted and revealed that the quality and quantity of extracted DNA from EDTA blood was suitable for the genotypic analysis of hemophilia up to 10 days of transportation. Then, the managers who are nurses in 42 registered hemophilia treatment centers located at the provincial, regional and university hospitals all over Thailand attended a two-day short course training on genetic counseling. They learned the clinical aspect of hemophilia, mode of inheritance and identify females at risk for carrier, writing a pedigree, preparing the blood samples, and sending them to the comprehensive hemophilia treatment center in Bangkok. Results: After the accurate diagnosis of moderate or severe hemophilia, genetic counseling was provided by a well-trained health personnel in the comprehensive hemophilia center in Bangkok or their hometown. A ‘family genetic game’ was created and used for the counseling. It consisted of pictures of father, mother, sons, daughters, normal X chromosome, X chromosome with hemophilia gene, and normal Y chromosome. A magnet was attached to the back of every individual piece of picture. Different scenarios were demonstrated and discussed interactively. After the family members clearly understood their own risk of being a hemophilia carrier, the nurse took their blood with EDTA anticoagulant and sent to the comprehensive hemophilia center in Bangkok by surface mail without ice. Genotypic analysis of hemophilia A and B family was performed by screening the mutation with the conformation gel electrophoresis followed by sequencing except for those with hemophilia A families, the inversion of intron 22 was initially performed. Also, polymorphisms associated with factor VIII gene (Bcl I, intron 13, intron 22) and factor IX gene (Mse I, Sal I, Nru I, Dde I, Hha I) among the patients and family members were also studied. A pilot study was conducted in 151 patients from 140 families (101 hemophilia A, 39 hemophilia B). For hemophilia A, the inversion of intron 22 was found in 46 families, 19 with identified mutations and 36 on the process of mutation identification. On the contrary, mutations were identified in all 39 families with hemophilia B. Nine novel mutations were found in hemophilia A (p.Asp2108 Val fs*15, p.Ser853*, p.Met1934 fs, p.Leu529Asp fs*6, p.Trp637*, p.Ala469Pro, p.Arg1966*, p.Trp208*, p.Asn1441Ile*5) and 6 novel mutations were found in hemophilia B (p.Trp194Ser, p.Gly317Arg, p.Asp359 Val, p.Gln-45 fs, p.Glu-37 fs, p.Tyr69 fs). Eighty females at risk for carrier were included and half of them were diagnosed with carriers. However, 26 prenatal diagnosis was performed in 21 females (18 hemophilia A, 3 hemophilia B) by chorionic villi sampling, amniocentesis or fetal blood sampling. The results revealed 23 male and 3 female fetuses. Only six male fetuses were diagnosed with hemophilia and the pregnancies were terminated due to the request of the couples at risk. An additional termination of pregnancy was performed in one male fetus with Down syndrome. Only one fetal loss complication was found. The cost of genotypic analysis for each family and the prenatal diagnosis was 100 USD and 75 USD, respectively. Therefore, the total cost of this pilot study was 15,950 USD and six births of new hemophilia patient were prevented. It is highly cost-effective as compared to the cost of treatment. Importantly, the established service is convenient for family members even though they stay far from the advanced comprehensive hemophilia center. Conclusion: A service for carrier detection and prenatal diagnosis is essentially. required for developing countries where adequate treatment of factor concentrates is not available. It should be integrated into the existing infrastructure of health care system. Research for simplifying the advanced technology and training for upgrading the medical knowledge among health personnel are the keys of success. Disclosures: No relevant conflicts of interest to declare.

The Role of E-Services in the Library Virtualization Process

The networked ICT technologies (such as the Internet) are having a dramatic effect on how services and especially knowledge services are innovated, designed, produced and distributed. In addition ICT-networks such as the Internet have created the basis for the development of new types of services. E-services are defined here as services that are produced, provided and/or consumed through the use of ICT-networks such as for example Internet-based systems and mobile solutions. E-services can be used by both consumers and businesses, and can be accessed via a wide range of information appliances (Hoffman, 2003, p.53). E-services include also selling of physical goods on the Internet as for example an airline ticket that is purchased online, but delivered by surface mail to the buyers or government services offered on the Internet or e-government. There are three main characteristics of e-services: • The service is accessible across the Internet or other electronic networks • The service is consumed by a person across the Internet or other electronic networks • There might be a fee that the consumer pays the provider for using the e-service, but that might not always be the case as for example in some e-services offered by the government. Normally the production, provision or consumption of a service requires the interaction between the service provider and the user of the service. Traditionally this has been based on personal interactions, most often face-to-face interactions. In e-services, the production, consumption and/or provision of services takes place through the intermediation of an ICT-network such as Internet-based systems or mobile solutions. Examples of e-services are e-banking, e-library services, e-publishing, airline tickets, e-government, information and location services. The advent of e-commerce and e-services has raised a number of challenges for knowledge intensive service organizations such as consulting companies, libraries and publishers, as well as for companies selling physical goods. The purpose of this study is to investigate the challenges that e-services are posing and will pose for research or academic libraries. The study has focused on the issues that Roskilde University Library (RUB) has had to deal with as a result of e-services adoption as well as the future challenges that e-services provide for RUB. The study is based on a number of interviews with RUB management, other secondary material provided by Roskilde University library and information provided on the Web page.

The Role of E-Services in the Library Virtualization Process

The networked ICT technologies (such as the Internet) are having a dramatic effect on how services and especially knowledge services are innovated, designed, produced and distributed. In addition ICT-networks such as the Internet have created the basis for the development of new types of services. E-services are defined here as services that are produced, provided and/or consumed through the use of ICT-networks such as for example Internet-based systems and mobile solutions. E-services can be used by both consumers and businesses, and can be accessed via a wide range of information appliances (Hoffman, 2003, p.53). E-services include also selling of physical goods on the Internet as for example an airline ticket that is purchased online, but delivered by surface mail to the buyers or government services offered on the Internet or e-government. There are three main characteristics of e-services: • The service is accessible across the Internet or other electronic networks • The service is consumed by a person across the Internet or other electronic networks • There might be a fee that the consumer pays the provider for using the e-service, but that might not always be the case as for example in some e-services offered by the government. Normally the production, provision or consumption of a service requires the interaction between the service provider and the user of the service. Traditionally this has been based on personal interactions, most often face-to-face interactions. In e-services, the production, consumption and/or provision of services takes place through the intermediation of an ICT-network such as Internet-based systems or mobile solutions. Examples of e-services are e-banking, e-library services, e-publishing, airline tickets, e-government, information and location services. The advent of e-commerce and e-services has raised a number of challenges for knowledge intensive service organizations such as consulting companies, libraries and publishers, as well as for companies selling physical goods. The purpose of this study is to investigate the challenges that e-services are posing and will pose for research or academic libraries. The study has focused on the issues that Roskilde University Library (RUB) has had to deal with as a result of e-services adoption as well as the future challenges that e-services provide for RUB. The study is based on a number of interviews with RUB management, other secondary material provided by Roskilde University library and information provided on the Web page.

Diagnosis of conjunctivitis in primary care: comparison of two different culture procedures

Background:In general practice, infectious conjunctivitis is a common and mostly (64%) self-limiting disorder. In case of an aberrant course or severe symptoms, a general practitioner may take a culture. Direct inoculation is considered the reference standard, but usually a swab is sent to a laboratory.Objectives:To compare the diagnostic performance of the swab, transported by surface mail with direct inoculation.Methods:19 general practitioners took two samples of the conjunctiva from 88 patients with symptoms suggestive of infectious conjunctivitis by rolling a cotton swab across the conjunctiva of the lower fornix. One swab was used to inoculate three agar plates directly, while the other was sent in a Stuart medium to the laboratory and inoculated at the time of arrival. The numbers of positive cultures of both methods were compared.Results:A pathogen was found in 31 of 88 samples (35% (95% CI 26 to 46)). Surprisingly, the number of positive cultures was higher for the Stuart medium (27/88) than for direct inoculation (23/88). The difference was 4.5% (90% CI 0 to 12, p = 0.388; one-sided McNemar test for paired proportions). In five of the 19 samples that were positive in both tests, the cultured pathogens were different.Conclusions:The Stuart medium detected more bacteria than direct inoculation. The lower 90% CI, testing non-inferiority at p = 0.05, indicates that it is unlikely that the Stuart medium misses any positive cultures compared with direct inoculation.

Predicting the Extent and Stressfulness of Problem Rumors at Home among Army Wives of Soldiers Deployed Overseas on a Humanitarian Mission

Nearly 500 civilian wives of enlisted soldiers from Fort Drum, New York were surveyed about the extent to which they experienced, as problems, rumors about what was happening in Somalia and when their soldier would return from the Operation Restore Hope deployment to Somalia in 1993. Rumors, as problems, were cited less frequently than loneliness, fears about the soldier's safety, or ignorance of the situation in Somalia but more frequently than problems with communication, finances, or legal issues. The strongest initial predictor of such problems was having communication problems with the soldier. Other significant predictors included length of deployment, soldier's rank, and unit support systems. More frequent use of telephone or regular mail, however, did not appear to reduce such rumors. Stressfulness of rumors appeared to be reduced by good unit leadership, good family support groups, and better emotional adaptability to deployment by spouses, while increased by reliance on surface mail for communication with one's deployed spouse. Subsequent analyses indicated that having fears about the safety of one's soldier or concerns about not knowing what was going on in Somalia were also significantly correlated with rumors as problems. Out results may support hypotheses that rumors serve to fill gaps in official information and justify spouses' anxieties regarding the safety of their deployed soldier.