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Molecular dissection of a contiguous gene syndrome: frequent submicroscopic deletions, evolutionarily conserved sequences, and a hypomethylated "island" in the Miller-Dieker chromosome region.

The Miller-Dieker syndrome (MDS), composed of characteristic facial abnormalities and a severe neuronal migration disorder affecting the cerebral cortex, is caused by visible or submicroscopic deletions of chromosome band 17p13. Twelve anonymous DNA markers were tested against a panel of somatic cell hybrids containing 17p deletions from seven MDS patients. All patients, including three with normal karyotypes, are deleted for a variable set of 5-12 markers. Two highly polymorphic VNTR (variable number of tandem repeats) probes, YNZ22 and YNH37, are codeleted in all patients tested and make molecular diagnosis for this disorder feasible. By pulsed-field gel electrophoresis, YNZ22 and YNH37 were shown to be within 30 kilobases (kb) of each other. Cosmid clones containing both VNTR sequences were identified, and restriction mapping showed them to be less than 15 kb apart. Three overlapping cosmids spanning greater than 100 kb were completely deleted in all patients, providing a minimum estimate of the size of the MDS critical region. A hypomethylated island and evolutionarily conserved sequences were identified within this 100-kb region, indications of the presence of one or more expressed sequences potentially involved in the pathophysiology of this disorder. The conserved sequences were mapped to mouse chromosome 11 by using mouse-rat somatic cell hybrids, extending the remarkable homology between human chromosome 17 and mouse chromosome 11 by 30 centimorgans, into the 17p telomere region.

Biological Evolution↗

Hepatitis C virus seroprevalence in clients of sexually transmitted disease clinics in North Carolina.

BACKGROUND AND OBJECTIVES: The major routes of transmission for hepatitis C virus (HCV) appear to be blood transfusion and injecting drug use (IDU). There is still some controversy concerning the role of sexual transmission in HCV infection. GOAL OF THIS STUDY: To use a well characterized, high-risk population of STD clinic patients to investigate the role of sexual transmission of HCV and to determine any association between HCV, HBV, and HIV. STUDY DESIGN: We tested stored sera obtained anonymously from clients attending three STD clinics in North Carolina in 1988 for antibodies to HCV and hepatitis B virus (HBV). An anonymous, self-administered client questionnaire provided patient history and demographic information. RESULTS: The most important risk factor for either HCV or HBV seropositivity was IDU. The only risk factor associated with HCV seropositivity after the removal of IDUs was age older than 30 years. In contrast, risk factors associated with HBV seropositivity after the removal of IDUs included male gender, age older than 30 years, HIV seropositivity, homosexuality/bisexuality, syphilis seropositivity, and a history of syphilis. CONCLUSION: Our study of STD clients confirms the important role that IDU plays in infection with HCV, but suggests that sexual transmission plays only a minor role in HCV epidemiology.

Adolescent↗

Sexual practices, sexually transmitted diseases and other risk factors for HIV among injecting drug users.

Data were collected from 814 clients attending anonymously for counselling before tests for human immunodeficiency virus (HIV) infection at the Burnett Clinic in Auckland. Just over 10 per cent of clients (n = 83) reported ever having injected drugs. This group was matched according to age, gender, ethnicity and sexual orientation with an equal sized control group drawn from clients who had not injected drugs. The groups were compared in terms of their sexual practices, sexual partnerships, other drug use, current and past health status and their perception of HIV risk. The injecting drug users reported more sex partners than the nonusers, they were less likely to be in a relationship and they were less likely to be monogamous. Vaginal and oral sex were the most common practices in both groups but anal sex was more common among users than the nonusers. Regular condom use was reported by less than a quarter of each group. The health status of drug users was generally poorer than that of the nonusers. They reported greater use of alcohol and other drugs, more mental health problems, and more symptoms of ill health. They also had experienced more sexually-transmitted diseases. Only 1 per cent of users and 2 per cent of nonusers tested positively for HIV, although users saw themselves and their partners as at greater risk of HIV infection than the nonusers.

AIDS Serodiagnosis↗

Nutrient intakes and dietary behaviors of male and female collegiate athletes.

The purpose of this study was to assess the dietary intakes and behaviors of male and female collegiate athletes. Athletes (n =345) at a NCAA Division I university completed an anonymous questionnaire. T-tests, chi(2) statistic, and ANOVA were used to assess gender and sport differences. Multiple linear regression was used to assess gender differences in nutrient intakes, controlling for energy intake and to examine the relationships between desired weight change, dietary behaviors, and nutrient intakes. Only 15 % and 26 % of athletes had adequate intakes of carbohydrate and protein, respectively, based on recommendations for athletes. Males were more likely to exceed the Dietary Guidelines for fat, saturated fat, cholesterol, and sodium than females. Sixty-two percent of female athletes wanted to lose at least 5 lbs compared to 23 % of males. The desire to lose weight was associated with decreased energy and macronutrient consumption, but not with inadequate micronutrient intakes.

Adult↗

Rapid and simple determination of the Escherichia coli phylogenetic group.

Phylogenetic analysis has shown that Escherichia coli is composed of four main phylogenetic groups (A, B1, B2, and D) and that virulent extra-intestinal strains mainly belong to groups B2 and D. Actually, phylogenetic groups can be determined by multilocus enzyme electrophoresis or ribotyping, both of which are complex, time-consuming techniques. We describe a simple and rapid phylogenetic grouping technique based on triplex PCR. The method, which uses a combination of two genes (chuA and yjaA) and an anonymous DNA fragment, was tested with 230 strains and showed excellent correlation with reference methods.

Electrophoresis, Polyacrylamide Gel↗

Increasing risk behaviour and high levels of undiagnosed HIV infection in a community sample of homosexual men.

OBJECTIVES: To estimate changes in sexual behaviour over time. To examine the proportion of undiagnosed HIV infection in a community sample of homosexual men. To explore the relation between HIV status, diagnosis, and sexual behaviour. METHODS: Five cross sectional surveys of men attending selected gay community venues in London between 1996 and 2000 (n = 8052). Men were recruited in 45 to 58 social venues (including bars, clubs, and saunas) across London. Participants self completed an anonymous behavioural questionnaire. In 2000, participants in community venues provided anonymous saliva samples for testing for anti-HIV antibody. RESULTS: The proportion of men having unprotected anal intercourse (UAI) increased significantly each year from 30% in 1996 to 42% in 2000 (p<<0.001). In 2000, 132 of 1206 (10.9%) saliva samples were HIV antibody positive. Of the HIV saliva antibody positive samples, 43/132 (32.5%) were undiagnosed. Around half of both diagnosed and undiagnosed HIV saliva positive men reported UAI in the past year. Of the 83% of men who reported their current perceived HIV status, 4.1% reported an incorrect status. HIV antibody positivity was associated with increasing numbers of UAI partners, and having a sexually transmitted infection (STI) in the past year (OR 2.15). CONCLUSIONS: Homosexual men continue to report increasing levels of UAI. HIV prevalence is high in this group, with many infections remaining undiagnosed. The high level of risky behaviour in HIV positive men, regardless of whether they are diagnosed, is of public health concern, in an era when HIV prevalence, antiretroviral resistance, and STI incidence are increasing.

Adult↗

Screening for syphilis among men who have sex with men in various clinical settings.

OBJECTIVES: To assess the prevalence of syphilis infections among men who have sex with men (MSM) accessing the Brisbane Sexual Health Clinic during the period 1997 up to May 2003, data were collated through three clinical programmes conducted by the service-a large inner city mainstream sexual health clinic and two small outreach sessional clinics conducted on the site of male sex on premises venues (SOPV). Data analysis also provided the opportunity to evaluate the effectiveness of the smaller outreach clinics to access populations of MSM less likely to attend or identify at the larger mainstream clinic, and therefore enhance the detection of previously undiagnosed sexually transmissible infections. METHODS: Computerised records from 1997-2003 were collated for a statistical analysis of syphilis and other STI pathology results for all MSM accessing the mainstream clinic, and two outreach clinics. RESULTS: A review of client charts showed that 16 new syphilis diagnoses were made over the previous 5 years, but only two of these infections (both through the mainstream clinic) were early syphilis and therefore transmissible. All other cases were latent infections. A higher proportion of bisexual men was identified with positive syphilis serology but this was just below significance (p=0.06). Significantly, almost a third of syphilis diagnoses (all latent) were made at SOPV outreach clinics, despite the much lower proportion of clients seen overall through the SOPV clinics. For other sexually transmissible infections, the mainstream clinic demonstrated greater efficiency at case detection. CONCLUSION: Outreach clinics located in male saunas may serve an effective function in syphilis screening by facilitating access for a particular subpopulation of MSM (bisexual, married men). These outreach clinics may provide important outlets for education and opportunistic screening of asymptomatic MSM and foster a greater willingness for men to honestly self identify. However, larger, mainstream clinics serve a more anonymous venue for the testing of symptomatic men.

Adolescent↗

Disclosure of HIV status to sex partners and sexual risk behaviours among HIV-positive men and women, Cape Town, South Africa.

BACKGROUND: The HIV epidemic continues to amplify in southern Africa and there is a growing need for HIV prevention interventions among people who have tested HIV positive. METHODS: Anonymous surveys were completed by 413 HIV-positive men and 641 HIV-positive women sampled from HIV/AIDS services; 73% were <35 years old, 70% Black African, 70% unemployed, 75% unmarried, and 50% taking antiretroviral treatment. RESULTS: Among the 903 (85%) participants who were currently sexually active, 378 (42%) had sex with a person to whom they had not disclosed their HIV status in the previous 3 months. Participants who had not disclosed their HIV status to their sex partners were considerably more likely to have multiple partners, HIV-negative partners, partners of unknown HIV status and unprotected intercourse with non-concordant sex partners. Not disclosing their HIV status to partners was also associated with having lost a job or a place to stay because of being HIV positive and feeling less able to disclose to partners. CONCLUSIONS: HIV-related stigma and discrimination are associated with not disclosing HIV status to sex partners, and non-disclosure is closely associated with HIV transmission risk behaviours. Interventions are needed in South Africa to reduce the AIDS stigma and discrimination and to assist people with HIV to make effective decisions on disclosure.

Adult↗

[Anxiety in adolescents of a Madrid neighbourhood].

OBJECTIVES: To determine the degree of state-trait anxiety in adolescents and its possible association with several socio-demographic variables. DESIGN: Descriptive cross-sectional study. SETTING: First semester of 2004. Two state secondary schools in Area 7, Madrid, Spain. PARTICIPANTS: Five hundred fifty nine students from the first to third years of secondary education. MAIN MEASUREMENTS: Two anonymous multiple-choice tests were given out to fill in during class time: STAIC (State-Trait Anxiety Inventory for Children) and a questionnaire of socio-demographic variables (age, sex, immigration, toxic habits, socio-economic and family situation, relationships, view of life, and school results). RESULTS: Four hundred forty five tests were valid. Mean age, 13.8 (SD, 1.2); 53.5% were girls, 18.7% immigrants, 20.7% took drugs (alcohol, tobacco, or illegal drugs), 32.8% had repeated at least 1 year, 14.3% considered their relationship with their family "bad," 15% referred to a "bad" relation with their class mates and 29.5% had a "bad" view of life. A statistically significant association was established between all these variables and anxiety. CONCLUSIONS: It is important to know what risk factors are associated with anxiety in order to detect it early and prevent its development to other serious mental disorders. In this study, higher levels of anxiety were found in immigrants, in girls, in drug users, in students in a worse socio-economic situation and in students who have had to repeat a year. This study corroborates the classic risk factors associated with anxiety, but shows that we should take into account a further one: immigration. It also suggests the importance of good family and personal relationships for psychological balance.

Adolescent↗

Detection of HIV-1 and HIV-2 antibodies among Chlamydia trachomatis infected pregnant women in Japan.

An anonymous unlinked HIV antibody test was conducted on 1632 Chlamydia trachomatis (C. trachomatis) antibody positive women from 10 institutes of 7 prefectures in Japan. All the sera were negative for both HIV-1 and HIV-2 antibodies. The result may support the suggestion that HIV prevalence is low among general population in Japan. Such a test as this study will be useful not only for developing a reliable HIV surveillance system but also for the study of sexual behavior of general population, since C. trachomatis infection is sensitive to reflect sexual contact.

Adult↗

Negative affect and risk for human immunodeficiency virus: one size may not fit all.

PURPOSE: Research examining the relationship between human immunodeficiency virus (HIV)-related risk behavior and negative affective states has netted mixed findings. The present study examined the potential moderating role of gender and sexual orientation on negative affect and HIV-related risk behavior. DESIGN: Measures of depression, anxiety, and HIV-related risk behavior were collected from participants at the time of pretest counseling. Analysis of variance was used to examine HIV-related risk behavior as a function of negative affect levels and gender and behavioral sexual orientation. SETTING: The study was conducted through a community-based, anonymous HIV counseling and testing site. SUBJECTS: Participants included 185 consecutively recruited men and women presenting for HIV testing. MEASURES: Participants completed a structured interview regarding HIV-related risk behavior, the Center for Epidemiological Studies Depressed Mood Scale, and the Beck Anxiety Inventory. RESULTS: Greater HlV-related risk behavior was associated with high levels of anxiety and moderate or high levels of depression for bisexual women. Greater HIV-related risk behavior was also associated with low levels of anxiety and mild to moderate levels of depression for bisexual men. CONCLUSIONS: The relationship between negative affective states and HIV-related risk behavior may vary as a function of gender and behavioral sexual orientation. Better understanding of the relationship between negative affect and risk behavior may be achieved through consideration of these sources of variation.

Adult↗

Job satisfaction among male physicians: perspective from Northern Iraq.

OBJECTIVE: To determine the level of job satisfaction among male physicians in northern Iraq. DESIGN: Cross-sectional study. PLACE AND DURATION OF STUDY: Three public hospitals in the cities of Erbil and Kirkuk in northern Iraq, from May to June 2004. SUBJECTS AND METHODS: Male physicians, currently working in public sector hospitals for at least one year, were given a structured, self-administered, anonymous and pre-tested questionnaire with both closed and open-ended questions. Data were collected on demographic and professional characteristics. Likert scales were used for job related characteristics. Data were analyzed for frequencies and mean scores for demographic and professional characteristics, while job related characteristics were analyzed with means and standard errors. RESULTS: Out of 174 male physicians participating in this study, 132 (75.8%) responded as always or usually, satisfied with their career as a physician with a mean score of 4.3 (SE 0.1). Ninety-seven (55.7 %) physicians reported their work related stress as either severe or moderate, with a mean score of 2.6 (SE 0.1). But 153 (87.9 %) physicians reported as always or usually being in control of their professional work-related activities, with a mean of 4.5 (SE 0.08), while mean level of stress at home/personal life was 2.2 (SE 0.06). CONCLUSION: Over seventy percent of male physicians in public-sector hospitals were satisfied with their jobs; however, links between working conditions and levels of job satisfaction were not clearly discernible.

Adult↗

[Epidemiology and management of care of hepatitis C infection in the Poitou-Charentes region in 1997 and 2000].

OBJECTIVES: A repeat cross-sectional survey was performed in 1997 and 2000 in the Poitou-Charentes district of France to compare screening and management of hepatitis C virus infection. METHODS: The "Hepatitis C Network" asked the biological laboratories in the region to provide anonymous results of serology tests performed during two two month periods at a 3 year interval. An epidemiological and follow-up questionnaire was sent to the medical practitioner who prescribed the test for all positive tests. RESULTS: More serology tests were prescribed in 2000 (7074) than in 1997 (6168). The access to screening differed significantly between the 4 counties of the district (P<0.0001). Sixty-nine and 58 patients were first diagnosed respectively in 1997 and 2000. In 2000, these patients were younger (P=0.05) and were infected later (P=0.03). The risk factors were similar for the two periods. Respectively 23% and 26% underwent a liver biopsy, and 12% were treated. CONCLUSION: Screening improved after a press campaign, but there was no increase in the number of newly detected patients. In 2000, one third of patients were still inadequately cared for.

Adult↗

Injury profile in young female adolescents-a case study from Islamabad.

BACKGROUND: Injuries are an under recognized public health problem globally. We assessed the prevalence and correlates of injuries in adolescent school girls. METHODS: A cross-sectional survey with convenience sampling was conducted among the two girl's middle schools in Islamabad, using structured, self-administered, anonymous and pre-tested questionnaire. All the class seven and eight students attending the school on the day of study were distributed questionnaires in the classrooms, who handed-over the completed questionnaires to their designated teacher. Data was analyzed for frequencies and counts with STATA 8. RESULTS: One hundred eighty-two questionnaires were completed; average age of respondents was 12 years (range 11-14). Cumulatively, 78 (42.8%) students reported sustaining 93 medically attended unintentional injuries in the past year; among these 11 (14.1%) reported two injuries and 2 (2.6%) reported three injuries. For 43 (46.2%) injuries, respondents consulted a general practitioner (Doctor practicing near home), while for the rest of injuries, students were taken to the hospital for treatment. CONCLUSION: Medically attended unintentional injuries in the preceding one year were common in the school girls, with home being the most frequent place of injuries. Falls with injuries on hands and arms was the most common site of injuries.

Adolescent↗

[A quality assurance program in social medicine expert assessment].

Based on results of discussions from various fields of medical expertises, following a preliminary report of necessary essential parameters for a quality monitoring programme in sociomedical expertising, a catalogue of 10 standards is suggested to compare quality analysis. These standards can be used for internal anonymous voluntary specimen random tests (cross-examinations), external quality control and longitudinal studies in case of second or multiple medical opinions requested by the social health insurance. Evaluation can be worked out by an 0-10 point scale, for example by quality assurance committees.

Disability Evaluation↗

[Substance abuse among school children. A pilot study from Ilulissat/Jakobshavn, Grönland].

A pilot investigation to illustrate the use of euphoriant agents by school pupils in Ilusissat/Jakobshavn in Greenland was carried out. The object was to establish a basic line for this employment and to commence monitoring which has been planned for a preliminary period of five years. In addition, a questionnaire was tested. The investigation was anonymous and the questionnaires were distributed on 14.11.1989. All of the pupils who were present (195 out of 230) participated. The age range was from 13 to 17 years. The investigation revealed a great consumption of tobacco. The alcohol consumption was moderate while hash and sniffing were at city levels (20% and 7%, respectively). Intensive prophylactic measures in the Greenlandic language are required. Similar projects on local bases are important. This investigation will be repeated annually in the same manner and will be extended to several towns in Greenland.

Adolescent↗

Seroprevalence of human immunodeficiency virus in mental health patients.

In contrast to the published data on Human Immunodeficiency Virus (HIV) infection in parenteral drug abusers, there is a paucity of data on prison inmates and virtually none on psychiatric inpatients. Because our facility serves each of these patients groups, we designed an anonymous seroprevalance study. We tested 1,496 unduplicated sera using sequential enzyme-linked immunosorbent assay (ELISA) and Western blot tests. The overall prevalence of Western blot positive serum was 0.53%. The prevalence rates for the different services of our hospital, Corrections, Detoxification Program, and general Department of Mental Health inpatients, were 4.62%, 0.99%, and 0.25% respectively. While these data demonstrate the increased prevalence of HIV infection among prison inmates, they fail to show a greater prevalence among South Carolina psychiatric inpatients than among general hospital patients.

Adult↗

Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.

Nonsyndromic cleft lip with or without cleft palate (CL/P) is a common craniofacial developmental defect. Recent segregation analyses have suggested that major genes play a role in the etiology of CL/P. Linkage to 22 candidate genes was tested in 11 multigenerational families with CL/P, and 21 of these candidates were excluded. APOC2, 19q13.1, which is linked to the proto-oncogene BCL3, gave suggestive evidence for linkage to CL/P. The study was expanded to include a total of 39 multigenerational CL/P families. Linkage was tested in all families, using an anonymous marker, D19S178, and intragenic markers in BCL3 and APOC2. Linkage was tested under two models, autosomal dominant with reduced penetrance and affecteds only. Homogeneity testing on the two-point data gave evidence of heterogeneity at APOC2 under the affecteds-only model. Both models showed evidence of heterogeneity, with 43% of families linked at zero recombination to BCL3 when marker data from BCL3 and APOC2 were included. A maximum multipoint LOD score of 7.00 at BCL3 was found among the 17 families that had posterior probabilities > = 50% in favor of linkage. The transmission disequilibrium test provided additional evidence for linkage with the 3 allele of BCL3 more often transmitted to affected children. These results suggest that BCL3, or a nearby gene, plays a role in the etiology of CL/P in some families.

B-Cell Lymphoma 3 Protein↗