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GeneTests-GeneClinics: genetic testing information for a growing audience.

The development and usage of two companion NIH-funded genetic testing information databases, GeneTests (www.genetests.org) and GeneClinics (www.geneclinics.org), now merged into one web site, reflect the steadily increasing use of genetic testing and the expanding audience for genetic testing information. Established in 1993 as Helix, a genetics laboratory directory of approximately 110 listings, GeneTests has grown into a database of over 900 tests for inherited diseases, a directory of over 500 international laboratories, a directory of over 1,000 U.S. and international genetics clinics, and a resource for educational/teaching materials and reports of summary genetic test data. GeneClinics, founded in 1997 as an expert-authored, peer-reviewed, disease-specific knowledge base relating genetic testing to patient care, has grown steadily, now containing over 130 expert-authored, peer-reviewed full-text entries relating genetic testing information to diagnosis, management, and genetic counseling of specific inherited diseases. In spring 2001 the two databases were merged and in October 2001 the two web sites were merged for the purpose of seamless navigation into the GeneTests-GeneClinics site (www.genetests.org or www.geneclinics.org); the GeneClinics knowledge base was renamed "GeneReviews" to avoid confusion with the U.S. and international clinic directories. As genetic testing has moved steadily out of research venues and into routine medical practice, the user audience for these databases has become international and expansive and includes healthcare providers, patients, educators, policy makers, and the media. The use of these combined resources has grown to approximately 3,200 visits/day.

Databases, Genetic↗

The repertoire of human germline VH sequences reveals about fifty groups of VH segments with different hypervariable loops.

We have used the polymerase chain reaction and VH family-based primers to clone and sequence 74 human germline VH segments from a single individual and built a directory to include all known germline sequences. The directory contains 122 VH segments with different nucleotide sequences, 83 of which have open reading frames. The directory indicates that the structural diversity of the germline repertoire for antigen binding is fixed by about 50 groups of VH segments: each group encodes identical hypervariable loops. The directory should help in mapping the VH locus, in estimating somatic mutation and VH segment usage and in designing and constructing synthetic antibody libraries.

Amino Acid Sequence↗

Obtaining telephone numbers for a rural Medicaid population: issues for outreach and research.

This study examined the accuracy and costs of determining whether rural, low-income Medicaid recipients did or did not have a phone, and of obtaining phone numbers for those who did. For a random sample of 209 families, we compared phone information obtained from phone books and directory assistance with information obtained from department of social services (DSS) records. DSS records identified 51% of the sample as having phones, compared with 19%-25% for phone books and directory assistance. For identifying families as having no home phone or a phone with a number that matched the one in the DSS record, phone books or directory assistance corresponded with DSS records in 52%-57% of the sample. Using phone books or directory assistance was up to 3.2 times more costly than using DSS records. The study highlighted the need to establish policies to promote the exchange of information between social services and public health agencies and researchers.

Community Health Planning↗

Computer files.

From what has been said, several recommendations can be made for users of small personal computers regardless of which operating system they use. If your computer has a large hard disk not specially required by any single application, organize the disk into a small number of volumes. You will then be using the computer as if it had several smaller disks, which will help you to create a logical file structure. The size of individual volumes has to be selected carefully with respect to the files kept in each volume. Otherwise, it may be that you will have too much space in one volume and not enough in another. In each volume, organize the structure of directories and subdirectories logically so that they correspond to the logic of your file content. Be aware of the fact that the directories suggested as default when installing new software are often not the optimum. For instance, it is better to put different graphics packages under a common subdirectory rather than to install them at the same level as all other packages including statistics, text processors, etc. Create a special directory for each task you use the computer. Note that it is a bad practice to keep many different and logically unsorted files in the root directory of any of your volumes. Only system and important service files should be kept there. Although any file may be written all over the disk, access to it will be faster if it is written over the minimum number of cylinders. From time to time, use special programs that reorganize your files in this way.(ABSTRACT TRUNCATED AT 250 WORDS)

Computer Storage Devices↗

Comparison of e-mail, fax, and postal surveys of pediatricians.

OBJECTIVES: To compare 3 communication modes (postal, fax, and e-mail) in a rotavirus vaccine physician survey. METHODS: We used 3 communication modes to distribute a survey to physicians listed in the membership directory of the Georgia Chapter of the American Academy of Pediatrics. The directory listed 1391 members; however, 404 were deemed ineligible on the basis of their listing as a specialist, retiree, resident in training, or government public health employee. Of the 987 members expected to administer vaccines, 150 were selected randomly to receive the postal survey (postal group). Of the remaining listings, 488 (58%) of 837 listed a fax number; 150 members were selected randomly and faxed a survey (fax group). Of the remaining members, 266 (39%) of 687 had e-mail addresses listed; 150 members were selected randomly for the e-mail survey (e-mail group). A follow-up survey was sent by the same mode at 2 weeks. A final survey was sent via another mode (mixed mode) at 1 month: by fax to e-mail and postal nonresponders and by post to fax nonresponders and those without fax. RESULTS: Eligible respondents in the 3 survey groups were similar in their practice setting and location. Although the e-mail group had fewer median years (8 years) since medical school graduation than the fax group (19 years) and postal group (17 years), a similar percentage of responders in all groups had computers (>85%) and Internet access (> or =70%) at work. However, only 39% of members listed an e-mail address in the directory. In the 2 weeks after the first mailing, 39 surveys were completed via postal mail, 50 via fax, and 16 via e-mail. In the 2 weeks after the second contact (sent at 2 weeks), 20 surveys were completed via postal mail, 15 via fax, and 17 via e-mail. The response rate after the first 2 mailings was 41% (59 of 143) for postal, 47% (65 of 137) for fax, and 26% (33 of 125) for e-mail surveys. The third and final survey (sent 1 month after the first mailing) was sent by a different (ie, mixed) mode and elicited an additional 73 responses: 19 responses (15 postal, 4 fax) from the postal group, 19 responses (18 postal, 1 fax) from the fax group, and 35 responses (15 postal, 13 fax, 7 e-mail) from the e-mail group. Twenty-three percent (9 of 40) of the e-mail and 18% (15 of 83) of the fax surveys completed were returned on the same or subsequent day they were sent, compared with none of the postal surveys. There were significant differences among the 3 groups for invalid addresses/numbers (4% postal, 8% fax, and 16% e-mail) listed in the directory. Using mixed modes as the third contact, the overall response rate increased from 39% before mixed mode to a final of 53%. On the basis of the 3 initial groups, responses to 1 of 12 rotavirus questions differed significantly. CONCLUSIONS: Future use of e-mail surveys in selected circumstances is promising, because the majority of providers have Internet access and acknowledged interest in participating in e-mail surveys. E-mail surveys could be especially useful if rapid response time is necessary. There were fewer incomplete questions by participants who completed the e-mail survey compared with postal or fax participants. Updating membership e-mail addresses and routinely using e-mail as a communication tool should improve the ability to use e-mail surveys. There may need to be ongoing evaluations that critically evaluate providers' responses to e-mail surveys compared with other survey modes before e-mail surveys can become a standard survey tool. In the meantime, mixed-mode surveys may be an option.

Cross-Sectional Studies↗

[Disease registries in the epidemiological researching of rare diseases in Spain].

BACKGROUND: The use of tools such as disease registries poses a problem in the case of rare diseases. This study is aimed at describing the current situation concerning rare disease registries in Spain. METHODS: The information provided by two Spanish health registries directories prepared by the Spanish Health Assessment Technologies Agencies are employed, a descriptive cross-sectional study being conducted. The registries identified in these directories has been classified as: (1) "Specific rare diseases" (2) "Unspecific but with information on rare disease and (3) "Non-informative regarding rare diseases". RESULTS: The 2000 directory listed 82 registries, 15.8% of which were classified under Group 1, whilst a total of 107 registries, 16.8% in Group 1, were identified in the 2005 review. The main health registries in Group 2, by topic, were: cancer, mortality, psychiatry and nephrology. No general rare disease registries were found in the directories. CONCLUSIONS: Although few in number, health registries do exist in Spain including information on rare diseases. Areas have been identified by topic lacking registries and also information systems or registries unidentified in the sources used. Continuing efforts must be made to improve the information available on rare diseases.

Cross-Sectional Studies↗

VARIETIES OF INFORMATION REQUESTS IN A MEDICAL LIBRARY.

In an analysis of the information requests received and recorded in the Cleveland Medical Library over a two-year period, the requests were classified in four groups according to whether they were direct inquiries (factual), indirect (subject), biographical and directory, or requests for verification of literature citations. An attempt was made to discover some of the major characteristics and the volume of activity in each class. The results reflect the information services supplied by a single library with its own unique clientele and functions, rather than provide a means of generalizing about information services in all libraries, although they may give us some useful insights. Detailed analyses are made of direct and of biographical and directory questions. The largest number of inquiries received were those in which literature references on a specified subject were requested (indirect inquiries); these represented over 50 percent of the total. Most of the requests in this category called for limited coverage (five articles or less) in the recent literature (not over five years). Requests for verification of citations ranked next with 25 percent of the total, followed by direct (factual) inquiries (12 percent) and biographical and directory inquiries (9 percent), although it is recognized that these last two classes are probably underrepresented in the sample.

Bibliographies as Topic↗

Identifying churches for community-based mammography promotion: lessons from the LAMP study.

There is great potential in public health and faith communities partnering to promote health education and research. This article describes lessons learned from the design and implementation of such a partnership, the Los Angeles Mammography Promotion in Churches Program (LAMP). It is feasible, although challenging, to enumerate and survey churches in a geographically defined urban population, using data compiled from telephone directories, religious sources (e.g., denominational networks), chambers of commerce, and newspapers. Among those sources, telephone directories provided the broadest coverage, whereas religious sources yielded the highest recruitment rate. For collecting survey data from churches, telephone methods are superior to mail methods. For church-based health education programs that seek comprehensive coverage and have adequate resources, it is recommended that telephone directories be combined with religious sources to identify target churches. For programs with limited resources and less emphasis on comprehensive coverage, using religious sources alone is recommended.

Aged↗

Identifying United States substance abuse treatment programs: a test in one mid-sized city.

An accurate national listing of substance abuse treatment programs is essential for reporting data about the nation's treatment system and the clients entering that system. The National Survey of Substance Abuse Treatment Services (NSSATS) is thought to provide the most comprehensive list of treatment providers. Therefore, we report a partial test of the concurrent validity of the NSSATS in a single mid-sized city. Using operational definitions of "substance abuse treatment" and "substance abuse treatment programs" derived from prior work by the Center for Substance Abuse Treatment; and working within the defined geographic boundaries of a single, mid-sized city, we compared the NSSATS list with an independently developed compilation of programs from 5 sources: (1) the Yellow Pages; (2) the Internet Infospace Directory; (3) a State directory of licensed substance abuse treatment services; (4) the Office of Applied Studies Directory; (5) the National Master Facility Inventory. With all sources, including NSSATS, we identified 96 separate listings that met the operational definition of adult treatment within the geographic bounds of the city. The NSSATS identified 70 of those 96 programs (73%), the 5-source compilation identified a sample of 83 (86%). While these findings from a single city cannot be considered a full test of the validity of the NSSATS, the data presented offer at least one partial but promising indication that the NSSATS may be a valid national listing and may serve as satisfactory national frame.

Adolescent↗

The practice of general internal medicine by subspecialists.

To determine the proportion of specialists in internal medicine at a university medical center practicing general internal medicine in addition to their specialty, full-time and voluntary faculty were asked to complete a questionnaire concerning their practice patterns. In addition, the directories of two of the largest managed-care groups in the area were reviewed to identify physicians who were also faculty members, to determine whether faculty in these directories self-identified as general internists. Excluding those with primary research appointments, 303 faculty in the Department of Medicine were asked to participate. Of these, 187 (62%) responded, of whom 86 (46%) were full-time and 101 (54%) voluntary faculty. Of the respondents, 183 (98%) were either board certified (152; 81%) or board eligible (31; 17%) in a subspecialty. Both general internal medicine and specialty medicine were practiced by 116 (65%), with full-time faculty being more likely to have solely subspecialty practices (P < .001). The majority of faculty (150; 80%) participated in managed care. A review of directories of two managed-care groups revealed that 100 (87%) of the 115 faculty with appointments within subspecialty divisions of the Department of Medicine were listed as general internists. Subspecialists in internal medicine already spend considerable time practicing general medicine and are increasingly willing to identify themselves as generalists. Unless this is recognized, the future need for generalists may be overestimated considerably.

Hospitals, University↗

Acetabular fractures in the UK. What are the numbers?

We have established a nationwide directory of the specialist surgical units and their Lead Consultants with expertise in acetabular fracture surgery throughout the UK. Our directory has facilitated an estimation of the total numbers of operative acetabular fracture cases managed annually in the UK, as reported by those actually providing this specialist service. Previously the total number of acetabular injuries admitted and operated on in the UK was not known and there was no directory of acetabular surgeons in the UK. The introduction and accuracy of the OPCS codings will have massive financial implications for the DoH at a local and national level in the planning and provision of adequate health care resources. We have performed a questionnaire study to validate the DoH data for acetabular fracture surgery. Data was compiled using the ICD-10 for diagnosis of fracture of the acetabulum, and the OPCS-4 codes for the surgical procedures used for fracture fixation for the year 2003-2004. The Department of Health (DoH) data identified 44 units that had OPCS-4 coding for acetabular fracture fixation. We had a 95% (42 out of 44 units) response to our questionnaire. A total of 9 units contacted had actually performed no surgery, whereas the DoH coded these as having performed a maximum of 35 cases. The DoH data showed a total of 1825 admissions to 311 NHS hospitals for acetabular fractures, including 258 operative cases performed in 44 NHS hospitals in the UK. Our study has found that 748 acetabular fracture fixation cases were performed at 33 NHS hospitals in the UK in this study period. The total difference between the DoH operated cases and those confirmed by our study was 490. The hospital care for an operative acetabular fracture case may cost approximately 14,830, pounds if the actual numbers are under-reported to or by the DoH are 490, then approximately 7,266,700 pounds has been lost by these centres due to incorrect proportioning of resources.

Acetabulum↗

TongueTwister: an integrated program for analyzing lickometer data.

The analysis of lickometer data is often rendered prohibitively tedious by the large volume of data generated by the typical experiment. TongueTwister is an integrated program for the rapid and automatic analysis, presentation, and summary of long- and medium-access data collected by lickometers or of brief-access data collected by multi-bottle lickometers such as the DiLog Instruments MS80. The program was written in C+2 for Macintosh computers, and analyzes data collected by MS-DOS PCs. It takes advantage of the Macintosh user interface to provide quick and convenient output from all the files of a single experimental session, and to export the data to third-party statistical software or other documents. It can batch-process data files by automatically opening and analyzing all the files in a directory; thus, the user can employ directories as a simple database for organizing experimental groups. When a lickometer data file is opened, a textual summary, a raster plot of the lick pattern, the cumulative licks, the lick rate, a histogram of inter-lick intervals, and a breakdown of the session by fractions are automatically calculated and displayed. When an MS80 brief-access file is opened, the lick pattern for each tube presentation and a textual summary of the mean values derived for each tube are automatically displayed. If a directory of files is opened, the mean values derived across all the individual files are calculated and graphed. Analysis parameters can be tailored to the investigator's liking. Tables or graphs can be saved to disk, or copied and pasted into other Macintosh programs for additional analysis. The program may also be used for general-purpose analysis of periodic event records.

Animals↗

The Internet and patient education--resources and their reliability: focus on a select urologic topic.

OBJECTIVES: The information revolution triggered by the rapid growth of the Internet has allowed healthcare providers and patients to access a rapidly expanding volume of information. To address the quality of this information, a survey of the data on a single urology-related topic available on the Internet was performed. METHODS: The search on the World Wide Web (Web) was performed using the search engine HotBot and search directory Yahoo. The Web pages were assessed according to their relevancy to the topic chosen. Relevance rates were derived from the number of relevant sites divided by the total number of sites found. Relevant sites were subsequently ranked for quality on the basis of their accuracy, comprehensiveness, and objectivity. HotBot was then subsequently divided by domain, with each assessed separately. Yahoo was analyzed in its entirety. The resources were then compared for relevance and quality of information. RESULTS: When using the keyword "Viagra," HotBot responded with 15,109 hits. Yahoo presented 51 hits under the category, "Health: Pharmacy: Drugs and Medications: Specific Drugs and Medications: Viagra (Sildenafil)." The relevance rate for the first 50 hits in the search engine HotBot was 0.08. The relevance rates for the edu and org domains found by HotBot were 0.22 and 0.24, respectively; those for com and net were both 0.10. The relevance rate for the search directory Yahoo was 0.20. For relevant sites, the quality of the information presented was significantly higher in the Yahoo and in the HotBot domains hosted by nonprofit organizations when compared with HotBot in general and with its commercially oriented domains. HotBot overall was found to contain seven excellent sites, of which only three were found within Yahoo. CONCLUSIONS: Although the medical information available on the Web has proliferated at a remarkable rate, the number of Web sites providing complete, nonbiased information continues to represent only a small portion of the total. We have shown that the search directory Yahoo reduced the number of irrelevant sites significantly, but at the same time, some very valuable information available in HotBot was missing. At present, it may be useful to conduct searches within Yahoo followed by a review of both the edu and org HotBot domains.

Erectile Dysfunction↗

Population growth and fertility patterns in an Old Order Amish settlement.

BACKGROUND: Since they are a healthy and well-nourished isolate with strong religious proscriptions against birth control, the fertility patterns of the Old Order Amish have long been studied by demographers, particularly those with an interest in natural fertility. AIM: The present report describes population growth, population structure, and fertility patterns in a little-studied Amish settlement located in northeastern Ohio, USA (Geauga Settlement). SUBJECTS AND METHODS: A directory prepared by the Geauga Settlement provides data on the dates of birth of the mother, father, and all children for 1337 families for the period up to 1 January 1993. This information was used to assess population size, population structure, fertility rates, age at marriage, age of mothers at first and last birth, and birth intervals. Estimates of total settlement size were also derived from an older directory covering the period up to 1 January 1988 and a recently published directory which covers the period up to 1 January 1998. RESULTS: The settlement consisted of 7546 individuals in 1988, 8345 individuals in 1993, and 9572 individuals in 1998. The completed marital fertility rate was 7.7 (SD 3.6) births per woman. Total fertility rate decreased by about one birth between 1909 and 1967, in association with a change in fertility patterns, with women born in more recent cohorts tending to have more of their offspring at an earlier age, both of which suggest the existence of behaviours to control fertility. On the other hand, the age at the birth of the last child remained fairly constant over this time period. CONCLUSIONS: There is some suggestion of fertility control by Amish families. However, this control appears to be independent of parity, suggesting that there is no intention to limit family size. It is therefore reasonable to conclude that the Amish in the Geauga Settlement are a natural fertility population.

Adult↗

Tracing and recruiting a cohort with community acquired hepatitis 25 years later.

OBJECTIVE: We describe the methods used to trace and recruit a cohort (including injecting drug users) 25 years after admission to hospital in Melbourne with hepatitis. METHODS: Information recorded in the original medical record was used for tracing purposes. Subjects were located using the electoral roll, CD-ROM telephone directory, the Health Insurance Commission database, Hepatitis Foundation newsletters, advertising and features in the press and local radio. Other approaches included contacting local medical officer or next of kin from the original admission, and the National Death Registry. RESULTS: Tracing was undertaken on all members of the cohort; two-thirds were located. Methods were applied sequentially and 36% were found by CD-ROM telephone directory and the electoral roll, 33% from Health Insurance records, 15% by letter to last known address, 10% from contact of original next of kin, 3% from radio publicity and 1% from media advertisements. Of those who were located, 85% participated in the study. CONCLUSIONS: Accurate ascertainment of birth date and full name from original case records was essential for tracing purposes. Use of Health Insurance records and CD-ROM telephone directory and the electoral roll were the most successful means of locating subjects while newspaper advertising was non-productive and expensive. History of IDU was the major association with failure to trace and unwillingness to enrol, but despite this tracing and recruitment was high in this group. The high participation rate in those located appears to be due to the experience of the staff member making the initial contact.

Adult↗

Emerging advantages and drawbacks of telephone surveying in public health research in Ireland and the U.K.

BACKGROUND: Telephone surveys have been used widely in public health research internationally and are being increasingly used in Ireland and the U.K. METHODS: This study compared three telephone surveys conducted on the island of Ireland from 2000 to 2004, examining study methodology, outcome measures and the per unit cost of each completed survey. We critically examined these population-based surveys which all explored health related attitudes and behaviours. RESULTS: Over the period from 2000 to 2005 the percentage of calls which succeeded in contacting an eligible member of the public fell, from 52.9% to 31.8%. There was a drop in response rates to the surveys (once contact was established) from 58.6% to 17.7%. Costs per completed interview rose from 4.48 euro to 15.65 euro. Respondents were prepared to spend 10-15 minutes being surveyed, but longer surveys yielded poorer completion rates. Respondents were willing to discuss issues of a sensitive nature. Interviews after 9 pm were less successful, with complaints about the lateness of the call. Randomisation from electronic residential telephone directory databases excluded all ex-directory numbers and thus was not as representative of the general population as number generation by the hundred-bank method. However the directory database was more efficient in excluding business and fax numbers. CONCLUSION: Researchers should take cognisance of under-representativeness of land-line telephone surveys, of the increasing difficulties in contacting the public and of mounting personnel costs. We conclude that telephone surveying now requires additional strategies such as a multimode approach, or incentivisation, to be a useful, cost-effective means of acquiring data on public health matters in Ireland and the U.K.

Attitude to Health↗

Challenges of identifying asian women for breast cancer screening.

PURPOSE/OBJECTIVES: To emphasize the need for multiple data sources to develop a comprehensive list of potential respondents for a study of breast cancer screening behavior among Asian American women. DESIGN: Descriptive, pilot. SETTING: An urban Michigan county. SAMPLE: 616 Chinese women age 40 and older. METHODS: Comparison of multiple data sources, including lists from membership directories of local Chinese organizations, a commercial survey company, health promotion events, and brief telephone interviews. FINDINGS: Of the 616 eligible women, 32% were identified through the membership directories of local Chinese organizations, 28% from a list obtained from the survey company, 22% from telephone directories, 10% from the attendance lists of health promotion events, and 8% from more than one source. CONCLUSIONS: Multiple sources are required to obtain a comprehensive list for specialized populations. Every data source has its advantages and disadvantages. The use of diverse sources helps to offset the limitations of each individual one. IMPLICATIONS FOR NURSING: Identifying potential participants from specialized populations represents a major issue for clinicians and researchers in nursing and other health-related disciplines. Strategies exist to facilitate the process.

Adult↗

Patterns of public access to a regional poison control center: 1979 through 1986.

A routine part of the service provided by the New Mexico Poison and Drug Information Center is to perform at least 1 follow-up call on each poisoning case. Whenever practicable, public callers are asked an open-ended question during follow-up that determines where they found the poison center telephone number at the time of the original call. From 1979 through 1986, telephone number source data were collected from 101,905 public callers and categorized by 26 possible descriptors. Annual data capture rates varied from 99% (1979) to 48% (1986). These data were examined to note any changes in public access to the Center in response to the initiation and implementation of a more aggressive public outreach program in 1982 and 1983, which were considered transition years. The other years were grouped as either pre-transition (1979-81) or post-transition (1984-1986). Statistically significant (P less than 0.05) changes from the pre-transition years to the post-transition years included increased utilization of telephone labels (4.6% to 19.5%) and emergency department referrals (4.0% to 7.0%), while use of telephone directory listings and hospital operator referrals decreased (47.1% to 41.7% and 5.2% to 1.9%, respectively). In 1986, the most frequently used telephone number sources were the telephone directory (41.6%), telephone labels (23.5%), emergency department referrals (7.8%) and directory assistance (5.0%).

Health Education↗