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PubMed1987

Genetic heterogeneity of X-linked mental retardation with fragile X. Association of tight linkage to factor IX and incomplete penetrance in males.

X-linked mental retardation with fragile X or Martin-Bell Syndrome (MBS) is a frequent cause of mental retardation. So far segregation analysis of MBS in pedigrees ascertained by different, incomplete criteria has produced results, difficult to interpret, which suggest genetic complexity (Sherman et al. 1985). Biochemical and cell biological studies have failed to provide an assay for genetic heterogeneity in MBS and linkage analysis is the only available method. Such analysis, however, is complicated by the incomplete penetrance of the disease in males and the variable penetrance and expression of the defect in heterozygous females. We have used a new approach to test the heterogeneity of recombination between MBS and the coagulation factor IX gene or the anonymous probe 52A in a group of nine families who have sought genetic counselling at Guy's Hospital. We find that both our families alone and our families plus apparently complete samples of pedigrees reported in the literature, separate into two groups: one tightly and one loosely linked to factor IX. In the combined family sample these represent respectively 0.3 and 0.7 of the total and show recombination fractions of 0.0-0.15 and 0.25-0.5. Furthermore, the families with non-penetrant carrier males show tighter linkage to factor IX than the others, thus confirming the suggestion of a systematic difference among MBS families in the recombination between the disease and the factor IX locus. By contrast, no significant differences were found in the recombination between 52A and factor IX in the two groups of MBS families or in these families versus those with Hunter syndrome examined in our laboratory. The causes of the linkage heterogeneity we describe are not known. At least two alternatives can be considered: The existence of two MBS loci or differences in the recombination between a single MBS locus and the factor IX gene. The association between incomplete penetrance and tight linkage to factor IX as well as the discontinuous variation in recombination fraction we have observed seem to favour the former alternative.

Factor IX↗
PubMed2004

Fluorescent amplified fragment length polymorphism genotyping of Campylobacter jejuni and Campylobacter coli strains and its relationship with host specificity, serotyping, and phage typing.

Fluorescent amplified fragment length polymorphism (FAFLP) analysis was applied to 276 Campylobacter jejuni strains and 87 Campylobacter coli strains isolated from humans, pigs, cattle, poultry, and retail meats to investigate whether certain FAFLP genotypes of C. jejuni and C. coli are associated with a particular host and to determine the degree of association between FAFLP-defined genotypes and heat-stable serotypes and/or phage types. Within C. coli, the poultry strains clustered separately from those of porcine origin. In contrast, no evidence of host specificity was detected among C. jejuni strains. While C. coli strains show host specificity by FAFLP genotyping, C. jejuni strains that are genotypically similar appear to colonize a range of hosts, rather than being host adapted. Some serotypes and/or phage types (C. jejuni serotype HS18, phage type PT6, and serophage type HS19/PT2 and C. coli HS66, PT2, and HS56/PT2) were the most homogeneous by FAFLP genotyping, while others were more heterogeneous (C. jejuni HS5 and PT39, and C. coli HS24 and PT44) and therefore poor indicators of genetic relatedness between strains. The lack of host specificity in C. jejuni suggests that tracing the source of infection during epidemiological investigations will continue to be difficult. The lack of congruence between some serotypes and/or phage types and FAFLP genotype underlines the need for phenotypic testing to be supplemented by genotyping. This study also demonstrates how, in general, FAFLP generates "anonymous" genetic markers for strain characterization and epidemiological investigation of Campylobacter in the food chain.

Animals↗
PubMed2000

From child victim to adult victim: a model for predicting sexual revictimization.

Women with histories of child sexual abuse (N = 221) participated in a study designed to test a model for predicting adult/adolescent sexual revictimization and post-assault functioning. Participants completed anonymous questionnaires regarding their sexual victimization history, post-sexual assault symptoms and attributions, and consensual sexual behavior. Repeated victimization was defined as having experienced child sexual abuse and a separate incident of adolescent/adult victimization. Repeated victimization was associated with having experienced child sexual abuse involving physical contact, including intercourse and/or penetration. Women with repeated victimization engaged in more self-blame, reported higher levels of post-traumatic symptoms, and reported more high-risk sexual behavior. A path model was developed that indicated that the relationship between revictimization and child sexual abuse was mediated by self-blame, post-traumatic symptoms, and consensual sexual activity. The results suggest the need for further research on revictimization as well as suggesting areas for intervention to prevent sexual revictimization.

Adolescent↗
PubMed1997

HIV infection in psychiatric patients: an unlinked anonymous study.

BACKGROUND: Recent surveys suggest that psychiatric patients are at increased risk of being infected with HIV, although very little information is available concerning the seroprevalence of HIV infection among this population outside the US. The aim of this study is to determine the seroprevalence of HIV-I among patients admitted to a psychiatric in-patient unit and to gather linked anonymous risk-factor information. METHOD: An unlinked serosurvey was made, using HIV-1 antibody testing of remnant blood specimens collected for routine medical purposes, of patients consecutively admitted to an acute psychiatric unit in Madrid. RESULTS: Blood was obtained from 390 of the 477 eligible patients (81.8%). The prevalence of HIV was 5.1% (20/390). Patients aged between 18 and 39 accounted for 63.4% of the admissions and 75% of the positive results. Of the 29 patients who presented with injecting drug use, 14 were HIV-infected (48.3%; 95% CI 29.4 67.5). Of the 51 patients for whom any risk behaviour was noted on the admission chart, 18 were HIV-infected (35.3%; 95% CI 22.4 49.9). CONCLUSIONS: This study demonstrates that there is a substantial prevalence of HIV infection in psychiatric patients admitted to an acute in-patient unit. History of injecting drug use was strongly associated with seropositivity. Clinicians recognised risk factors for HIV infection in the majority of the HIV-infected cases.

Acute Disease↗
PubMed2004

Interface flow process audit: using the patient's career as a tracer of quality of care and of system organisation.

OBJECTIVES: This case study aims to demonstrate the method's feasibility and capacity to improve quality of care. Several drawbacks attached to tracer condition and selected procedure audits oblige clinicians to rely on external evaluators. Interface flow process audit is an alternative method, which also favours integration of health care across institutions divide. METHODS: An action research study was carried out to test the feasibility of interface flow process audit and its impact on quality improvement. An anonymous questionnaire was carried out to assess the participants' perception of the process. RESULTS: In this study, interface flow process audit brought together general practitioners and hospital doctors to analyse the co-ordination of their activities across the primary-secondary interface. Human factors and organisational characteristics had a clear influence on implementation of the solutions. In general, the participants confirmed that the interface flow process audit helped them to analyse the quality of case management both at primary and secondary care level. CONCLUSIONS: The interface flow process audit appears a useful method for regular in-service self-evaluation. Its practice enabled to address a wide scope of clinical, managerial and economical problems. Bridging the primary-secondary care gap, interface flow process audit's focus on the patient's career combined with the broad scope of problems that can be analysed are particularly powerful features. The methodology would benefit from an evaluation of its practice on larger scale.

Journal Article↗
PubMed1988

Act (No. 680) of 15 July 1988.

This Act prohibits facilities, agencies, or physicians providing artificial insemination services in Louisiana on an anonymous basis from using fresh semen specimens. It requires such facilities, agencies, and physicians to test frozen semen specimens for the presence of AIDS virus antibodies. Exceptions are allowed to both rules with respect to the semen of a husband used to inseminate his wife.

AIDS Serodiagnosis↗
PubMed2004

DNA amplification fingerprinting using 10 x polymerase chain reaction buffer with ammonium sulfate for human identification.

OBJECTIVE: The polymerase chain reaction (PCR) - based DNA amplification fingerprinting (DAF) or randomly amplified polymorphic DNA (RAPD) is based on a strategy using a single arbitrary oligonucleotide primer to generate anonymous amplification of genomic DNA. On this basic strategy, in this study, we aimed to test individual differences and usefulness of 2 basic primers (5'-CGCGCCGG-3' and 5'-TGCCGAGCTG-3') and examined whether there is a positive effect on results of 10 x PCR buffer with ammonium sulfate. METHODS: A new approach in DNA fingerprinting, 10 x PCR buffer with ammonium sulfate, is presented in the study. Primers with single 8 and 10 nucleotides in length and 2 different PCR buffers with or without ammonium sulfate were used to identify 135 volunteers with no blood relationship. This study was carried out at the Pharmacology Laboratory, University of Gaziantep, School of Medicine, Turkey between 1999 and 2000. RESULTS: An average of 10 major bands representing 500-1500 base pair (bp) in length was determined as amplified DNA products on standard agarose gels for these volunteers. The use of ammonium sulfate in 10 x PCR buffers has increased to 92% success ratio of individual difference obtained from the 8 nucleotides primer. CONCLUSION: With this study, more reliable results can be obtained by using ammonium sulfate in 10 x PCR buffers.

Ammonium Sulfate↗
PubMedDate not supplied

Perception of cultural correlates of medicine: a comparison between medical and non-medical students--the authoritarian health.

UNLABELLED: Aim of the study was to ascertain if a common cultural feeling of young people toward health, disease, physician's role and doctor-patient relationship, is present, and if under- and post-graduate students concepts and opinions modify during their stay in a School of Medicine. The study (1999-2001) was performed by anonymous questionnaires with 75 students (m = 28; f = 47) of the State School of Medicine, tested at the 3rd year, and with 73 students (m = 29; f = 44) tested at the 5th year of course; moreover with 71 (m = 30, f = 41) postgraduate residents at the 3rd year of specialty (Internal Medicine, Cardiology and Surgery). A group of 76 (m = 33; f = 43) students of the last year of a high school was also tested as reference group. RESULTS: Interference of medical under- and post-graduate school curricula on thoughts of youngsters toward health, disease, physician's role and doctor-patient relationship appears quite limited. Dissimilar way of thinking of medical vs. non-medical students was confined to some aspects concerning patient's possibility of healing, physician's role, behavior and function in chronic diseases. In the whole, our results suggest a trend, growing with the age of students, toward a more authoritarian and less "participative" approach with the patient: less confident relationship and more conflictual and antagonistic behaviors are widely considered and accepted. A general perspective with the construct of an authoritarian concept of health is superimposed as a net of rules and conditions on feelings' background of youngsters: postgraduate students regard themselves (and are perceived by younger students) as the guardians of an "healthy" system founded on scientific, economical and sociological grounds, as a work pointing to effectiveness, more than as a science with the target of efficacy. CONCLUSION: Impact of curricular studies of Medicine on youngsters is complex, but seems to modify only some and limited aspects of previously acquired thoughts and feelings on health and disease.

Adult↗
PubMed1994

[Evaluation of the DTP vaccination technique in infants].

OBJECTIVE: To evaluate the techniques of DPT vaccination in the nursing child. DESIGN: An observation study of a crossover type. Evaluation by means of an anonymous survey of those responsible for administering the vaccinations. Statistical analysis using the precise Fisher test. PARTICIPANTS: The thirteen official vaccination centres in Health Areas 11 and 12 in the Community of Valencia. MEASUREMENTS AND MAIN RESULTS: 12 centres (91%) answered the questionnaire. Four of them (41%) used different needles to aspirate the contents of the vial and give the injection to the nursing child. The DPT was always administered in the gluteal region. 33% used needles which were 16 mm long. Prophylactic paracetamol was used in two of the Centres as a matter of course. The Centre's size or length of time in use did not affect the techniques used. CONCLUSIONS: There is no uniformity in the technique of administering the DPT vaccine to the nursing child in the different Vaccination Centres of Areas 11 and 12 in the Community of Valencia. The techniques used for vaccinations often differ from those recommended by groups of experts.

Cross-Over Studies↗
PubMed2005

HIV risks and testing behavior among Asians and Pacific Islanders: results of the HIV Testing Survey, 2002-2003.

INTRODUCTION: The HIV Testing Survey (HITS) was developed to examine HIV testing and risk behavior in individuals at risk for HIV infection. The first Seattle HITS was conducted in 2000 (HITS-2000); HITS was conducted in Seattle again in 2002-2003 among Asians and Pacific Islanders (HITS-API). METHODS: Both HITS projects, HITS-API and HITS-2000, included anonymously targeted participants from at-risk populations. Data from the surveys were compared to see whether there were differences in HIV testing behavior between API and a general at-risk population in the Seattle area. Data were analyzed for 165 participants in HITS-API and 270 in HITS-2000. RESULTS: More API (90%) perceived themselves at some HIV risk relative to HITS-2000 participants (71%, chi2 p<0.05). In HITS-API and HITS-2000, participants reported significant HIV risks--no or inconsistent condom use with nonprimary partners or sharing injection equipment. Only 47% of HITS-API participants tested in the past year compared with 64% of HITS-2000. There was no association between HIV testing and risks in HITS-API. CONCLUSIONS: Based on self-report from HITS-API, the overall perceived risk for HIV infection was high, many engaged in high-risk behaviors, and HIV testing was suboptimal.

AIDS Serodiagnosis↗
PubMed2003

Validation and application of an instrument for measuring patient relatives' perception of quality of geriatric care.

OBJECTIVE: To test and validate a questionnaire concerning patient relatives' perception of the quality of geriatric care. DESIGN: Three anonymous questionnaire studies. SETTINGS: A community-based geriatric care organization and a university hospital in Sweden. STUDY PARTICIPANTS: Three hundred and eighteen relatives of patients within the geriatric care organization and 38 relatives of patients at the university hospital. MAIN OUTCOME MEASURES: A questionnaire composed of eight quality of care indices and an overall quality rating. Reliability and validity estimates were compared between the results from the three surveys. RESULTS: Internal reliability estimates for all indices were >0.65 and consistent over time. Inter-index correlations were >0.60 between certain indices, indicating some overlap. Second order factor analysis resulted in three distinct index groupings: personnel, relative's role, and care content. These three dimensions summarize relatives' perceptions of the quality of geriatric care. CONCLUSIONS: There is a need for a confidential patient relatives' questionnaire in geriatric care. The results revealed good questionnaire reliability and validity. The questionnaire needs to be tested in larger, independent samples in order to validate the indices further.

Aged↗
PubMed2002

Emergency physician practices and requirements regarding the medical screening examination of psychiatric patients.

OBJECTIVE: To describe the testing requirements and practices of emergency physicians (EPs) when conducting a medical screening examination of psychiatric patients. METHODS: An anonymous survey was developed and mailed to 500 EPs randomly selected through American College of Emergency Physicians membership rolls. RESULTS: Two hundred ninety surveys were returned (58%). Eighty-five percent of the respondents were male, 70% practiced in a community setting and 28% in an academic setting, 58% were emergency medicine (EM) residency-trained, and 88% were EM board-certified or board-eligible. Ninety-eight percent stated they were actively involved with the psychiatric medical screening exam (PMSE). Routine testing was required by 35% of the respondents, with 16% being required by ED protocol, and 84% by the psychiatrist/psychiatric institute. Of those with required testing, tests required were: complete blood cell count (56%), electrolytes (56%), serum alcohol (85%), serum toxicology screen (31%), urine toxicology screen (86%), electrocardiogram (18%), liver function test (16%), blood urea nitrogen (45%), and creatinine (40%). Many clinicians believed that certain tests were unnecessary as part of a PMSE. There was no statistical difference between the opinions of the physicians required to test and those not required to test in terms of which tests they thought were a necessary part of a PMSE regardless of the patient's clinical presentation. The EM-trained physicians were also found to be significantly less likely to think certain tests were necessary for the PMSE when compared with the non-EM-trained physicians. CONCLUSIONS: Routine testing was required as part of the medical screening examination of psychiatric patients for only one-third of the respondents. Few respondents believed that any of these tests were necessary. Emergency medicine-trained physicians were less likely to feel that routine testing was necessary.

Adult↗
PubMed2006

Identification of an 11T allele in the polypyrimidine tract of intron 8 of the CFTR gene.

PURPOSE: Most of the kits or reagents available for testing for mutations in the cystic fibrosis transmembrane conductance regulator gene include testing for the 5/7/9T polypyrimidine tract, but these methods only screen for three variants in this region: 5T, 7T, and 9T. Although such commercial products may not have been designed to screen for rare alleles of the polypyrimidine tract, we demonstrate that at least one of them (Tag-It Cystic Fibrosis Kit, Tm Bioscience, Toronto, Ontario, Canada) has enough sensitivity to differentiate samples with rare alleles by describing how this product allowed us to detect a previously uncharacterized 11T allele. METHODS: A total of 139 banked and anonymized clinical samples from carrier adults and children with cystic fibrosis (The Hospital for Sick Children, Toronto, Canada) were tested and analyzed using the Tag-It Cystic Fibrosis Kit. RESULTS: Two samples displayed allelic ratios for the polypyrimidine tract that were significantly different from the other samples and did not correspond to values expected to be seen for samples with 5T, 7T, or 9T alleles. Further tests with sequencing and an extended Tag-It assay confirmed the presence of an 11T allele. CONCLUSION: Although commercial products used in cystic fibrosis testing may not have been designed to screen for rare alleles of the polypyrimidine tract, we demonstrated that at least the Tag-It assay may have enough sensitivity to differentiate samples with such rare alleles, which can then be further analyzed for clarification.

Adult↗
PubMed2003

Repeat HIV testing among Hispanic men who have sex with men--a sign of risk, prevention, or reassurance?

This study examined factors associated with repeat (n > or = 3 lifetime) and regular (n > or = 2 times per year, for a minimum of 1 year) HIV testing among a community sample of 538 seronegative Hispanic men who have sex with men (MSM). Bilingual staff interviewed respondents anonymously at public venues in South Florida. We compared (a) repeat testers with nonrepeat testers and (b) regular testers with nonregular testers. Results of logistic regression analyses indicated that repeat testers were more likely to be older, more educated, have a history of sexually transmitted disease, and have more sex partners than nonrepeat testers. Regular testers were more likely to be younger, have lower HIV risk perceptions, and have intentionally taken their first HIV test than were nonregular testers. They were also more likely to engage in oral sex and to only engage in 100% protected insertive anal sex. These findings suggest the importance of studying both the frequency and regularity of HIV testing behaviors, and using them to design interventions to promote testing among Hispanic MSM who are most at risk.

Adult↗
PubMed1988

Using the Short Michigan Alcoholism Screening Test to study social drinkers: Tecumseh, Michigan.

The Short Michigan Alcoholism Screening Test (SMAST), often given to clinical samples to detect alcoholics, was used in a survey of a randomly selected sample (N = 1,266) in a small midwestern town, with a population of about 10,000. The specific aims were: (1) to test if scores on the SMAST would be related to these normal subject's levels of drinking; (2) to test if the SMAST could identify a drinking group who had never sought treatment for alcohol-related problems, thus defining a potential subset for help; and (3) to appraise the SMAST as a research tool for use in a general population. Results show that the number of SMAST items endorsed is significantly but modestly correlated to drinking levels, with higher volume drinkers having higher scores. This prediction was improved by removing two items reporting "not normal" drinking that had caused SMAST scores to be spuriously high. Factor analysis of test items allowed construction of five rank-ordered groups: those (1) reporting no alcohol-related SMAST problems; (2) described by two items, self-reported "not normal" drinking; (3) with one problem: "can't stop" drinking; (4) reporting problems but had not received treatment for them (the predicted group); and (5) reporting both problems and attempts at help with them (e.g., Alcoholics Anonymous). These latter two groups had significantly higher scores on several other measures of alcohol-related behavior, as well as tests measuring emotional adjustment, notably Eysenck's Neuroticism Scale and Buss and Plomin's measure of Impulsivity. The SMAST demonstrates potential usefulness in selecting problem, no-problem and patterns of use in drinkers from a normal drinking population when clusters of items are constructed to be exclusive in a Guttman-like rank order, rather than by sheer number of items endorsed or use of simple factor scores.

Adult↗
PubMed2006

Peer education in HIV prevention: an evaluation in schools.

BACKGROUND: In recent years a number of publications have come out about the peer education method used as a tool in HIV prevention for young people. Our survey aimed at testing the effectiveness of the peer education method in HIV prevention in high school settings through a pilot intervention. METHODS: A peer education intervention took place in 10 high schools in Athens over a 1 year period. A cohort of 702 students was surveyed (n = 493 intervention group, n = 209 control group) from 13 high schools through anonymous questionnaires based on the KABPs model, pre- and post-intervention. The statistical package used was SPSS using the chi(2)-test. RESULTS: Compared with control students, the intervention students were slightly empowered: (i) to increase their personal responsibility; and (ii) to adopt a safer behaviour in sexual practice. Knowledge did not show any significant modification between the two groups. However, discrimination about certain groups of people, the attitude about condoms and initiation of sexual relations did not appear to be influenced. CONCLUSIONS: The peer education approach can influence the behaviour of young people regarding their personal protection from HIV infection. In order to test its effectiveness, peer education should be further evaluated as a health education method in HIV prevention in high schools, other youth settings and community interventions, where the aim is behavioural change.

Adolescent↗
PubMed1991

The relationship between female sexual practices and the development of antisperm antibodies.

OBJECTIVE: To determine if female sexual practices are associated with the development of antisperm antibodies. DESIGN: Anonymous questionnaire. SETTING: Tertiary care; private practice. PATIENTS: Thirty-nine consecutive patients undergoing antisperm antibody testing; 32 responded. INTERVENTIONS: Cervical mucus and serum obtained at midcycle. MAIN OUTCOME: Female sexual practices were found not to be related to the development of antisperm antibodies. RESULTS: The percent (44.4) of women with antisperm antibodies who practice anal intercourse was not different from the percent (35.7) without these antibodies who engage in the same practice, and the percent (94.4) of women with antisperm antibodies who practice oral intercourse was not different from the percent (92.8) without these antibodies who engage in this practice. CONCLUSION: Female sexual practices do not appear to be related to the development of antisperm antibodies.

Adult↗