Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.

The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and among patients with symptoms suggestive of fatty acid oxidation (FAO) defects. We collected DNA from a cohort of 1,040 anonymous newborn blood spot samples. We screened these samples for the presence of the common c.1528G>C mutation in the HADHA gene. Based on the clinical suspicion of FAO defects, we screened suspected individuals since 2004 for the common c.1528G>C mutation in the HADHA gene and since 2008 in addition by tandem mass spectrometric analysis of plasma acylcarnitines. Our results showed that the carrier frequency of the c.1528G>C mutation in the Estonian population is high - 1:173. During the screening of symptomatic patients, we identified five LCHADD patients in four families. Three patients were retrospectively identified by molecular screening of the HADHA gene. One patient was homozygous for the c.1528G>C mutation in the HADHA gene, and two siblings were compound heterozygotes with HADHA genotype c.[1528G>C]+[1690-2A>G]. Among patients tested using acylcarnitine profiling, we identified two cases with an abnormal acylcarnitine profile typical to LCHADD. Molecular analysis showed homozygosity for c.1528G>C mutation. Based on a carrier frequency of 1:173 (95% Confidence Interval 1:76-1:454) and taking into account that the c.1528G>C mutation makes up 87.5% of disease alleles in Estonian LCHADD patients, the estimated prevalence of LCHADD in Estonia would be 1: 91,700.

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous missense mutation (c.1271G>A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation. Although many missense mutations have been described, the p.Gly424Asp mutation has not been previously reported. The clinical expression varied widely among affected males of this family. Patients 1 and 3 had relatively mild clinical expression (mild mental retardation (MR) and attention deficit disorder), but patient 2 had all typical clinical signs of SLC6A8 defect such as moderate MR, autistic features, expressive dysphasia and epilepsy. Among our patients, we saw significant problems in speech and language development combined with attention and behavioural difficulties. The number of false-positive biochemical results with increased urinary Cr:Crn ratio was higher (18%) in our study than in previous reports (1.8­10%). We therefore suggest that repeated biochemical testing should be performed before DNA sequencing analysis. Our study suggests that 2% (95% confidence limits: 0.05­11.1%) of this Estonian XLMR panel are due to mutations in the SLC6A8, which is similar to the prevalence reported in other populations. We therefore conclude that creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar MR and diagnostic screening of them should always include screening for SLC6A8 deficiency.

Surveillance of HIV infection and related risk behaviour in European prisons. A multicentre pilot study.

BACKGROUND: In order to demonstrate the feasibility of human immunodeficiency virus (HIV) infection and related risk behaviour surveillance in European prisons, a multicentre pilot study was undertaken. METHODS: A cross-sectional survey was carried out in six European prisons (France, Germany, Italy, The Netherlands, Scotland and Sweden). Inmates were invited to complete a self-administered and anonymous questionnaire and to give a saliva sample in order to test for HIV antibodies. RESULTS: Eight hundred and forty-seven out of 1,124 inmates participated in the survey (response rate 75%). Saliva from 817 inmates (73%) was collected and processed for HIV antibodies. Twenty-seven per cent reported that they had ever injected drugs and 49% of these reported they had injected whilst in prison. Eighteen per cent of inmates reported that they had been tattooed whilst in prison, which was found to be higher among injecting drug users (IDUs). One and sixteen per cent reported that they had ever had homosexual and heterosexual intercourse in prison respectively. The HIV prevalence among IDUs was 4% (versus 1% among non-IDUs) (p = 0.02). The proportions of inmates previously tested for hepatitis C and vaccinated against hepatitis B were 24 and 16% respectively. CONCLUSION: This survey demonstrates the feasibility of cross-sectional surveys in European prison inmates and highlights the importance of surveillance of HIV prevalence and related risk behaviour among inmates. The continuing high HIV prevalence and potential for HIV spread in prisons should encourage decision makers in implementing or enhancing harm reduction and education programmes and substance abuse treatment services in prison.

Prevalence and risk factors for HTLV-II infection in 913 injecting drug users in Stockholm, 1994.

The prevalence and risk factors for acquisition of human T-cell lymphotropic virus type I and II (HTLV-I and II) were investigated in a prospective study of 913 injecting drug users (IDUs) in Stockholm in 1994. Epidemiologic data were recorded, and blood samples were tested for antibodies against HTLV-I and HTLV-II; human immunodeficiency virus (HIV) types 1 and 2; and hepatitis A (HAV), B (HBV), C (HCV), and D (HDV). Positive serologic results for HTLV were confirmed by Western blot (WB) and polymerase chain reaction (PCR). Of the 905 participants with conclusive HTLV-II status, 29 (3.2%) were HTLV-II positive, and all but three were of Nordic descent. None was HTLV-I infected. One person was infected as early as 1981, before HIV had reached the IDU population in Sweden. The prevalence of HTLV-II infection was 12% among HIV-1-seropositive and 1.8% among HIV-1-seronegative participants. The overall seroprevalences were 14% for HIV-1, 0% for HIV-2, 41% for HAV, 75% for HBV, 92% for HCV, and 8% for HDV. Although amphetamine has been the main injecting drug in Sweden for several decades, heroin abuse combined with a debut of injecting drugs before 1975 was identified as the most important risk factor associated with HTLV-II infection. HAV and HIV seropositivity were also independent risk factors.

HTLV infections among Swedish intravenous drug users in 1992.

Serum samples collected in 1992 from 1158 intravenous drug users (IVDUs) in Stockholm, Sweden, were tested retrospectively for antibodies to human T-lymphotropic virus type I and II (HTLV-I and II). The overall prevalence rate of HTLV infections was 2.4% (28/1158). A majority of the HTLV infections were caused by HTLV-II (27/28). A significant association between HTLV-II and HIV-1 seropositivity was found, the prevalence of HTLV-II infection being 11.4% (11/96) in HIV-seropositive individuals compared with 1.5% (16/1062) in HIV-seronegative persons (p < 0.001). All the HTLV-infected individuals were of Scandinavian origin. No significant differences in age and sex distribution were observed in HTLV-infected persons compared to seronegative individuals. This study confirms that HTLV-II infection is present in the Swedish IVDU population and the findings provide baseline information for future epidemiological studies.

Preference for sex on amphetamine: a marker for HIV risk behaviour among male intravenous amphetamine users in Stockholm.

Two hundred injecting drug users at the Remand Prison in Stockholm participated in an interview study of sexual behaviour in parallel to an ongoing HIV epidemiological study. Fifty-four subjects were women and 146 were men. Amphetamine was the main drug used by 115 and heroin by 85. Twenty-six were HIV seropositive. Sexual activity was reported as the preferred activity on amphetamine by 51% of the male and 20% of the female amphetamine injectors. Among the 74 men who mainly injected amphetamine the characteristic of preferring sex on amphetamine was strongly associated with positive HIV serostatus in bivariate analysis, but was not independently predictive of HIV serostatus when injection frequency was controlled for. The results suggest that preferring sex on amphetamine may be viewed as a marker of high risk behaviour, both sexually and with needles, for HIV among male but not among female amphetamine injectors.

The risk of HIV infection for noninjecting sex partners of injecting drug users in Stockholm.

The risk for sexual transmission of HIV to noninjecting partners of injecting drug users in the course of their drug-using career was analyzed in a study of sexual behavior among 200 detained injecting drug users at the Remand Prison in Stockholm. Of the 194 who reported sexual intercourse during the last three years, 69% of the men and 41% of the women had had at least one noninjecting partner. Of the 119 with a regular partner at the time of arrest, 43% of the men and 8% of the women had a noninjecting regular partner. The HIV seroprevalence increased, whereas the proportion of noninjecting partners decreased with the duration of the drug-using career. Amphetamine injectors, who constitute the majority of drug injectors in Stockholm, reported a higher frequency of intercourse on drugs with regular partners than did the heroin users. The reported frequency of condom use was very low among the seronegative injectors, but somewhat higher among the seropositive injectors. The noninjecting regular sex partners can be said to share the risk for HIV infection along the course of the drug career of their injecting partners.

[Offer hepatitis B vaccination to the addicts. Transmission of hepatitis B among intravenous drug abusers]. / Erbjud missbrukare hepatit B-vaccination. Spridning av hepatit B bland sprutnarkomaner.

Structured interviews with 75 intravenous drug abusers (IVDAs) in Stockholm showed that, despite their having had several contacts with various medical institutions or prisons, none had been offered vaccination against hepatitis B virus (HBV) infection as recommended by the National Board of Health and Welfare. We conclude that, as failure to offer HBV vaccination to IVDAs contributes to be continued spread of HBV infection in this category, at admission all IVDAs should undergo serological HBV-testing and vaccination be offered to HBV-negatives.

Prevalence of hepatitis B virus markers among intravenous drug abusers in Stockholm: impact of heterosexual transmission.

In order to study the importance of sexual transmission of hepatitis B virus (HBV) among intravenous drug abusers (IVDAs), and from IVDAs to others, we consecutively interviewed 171 IVDAs detained at the Stockholm Remand Prison during 4 months in 1990. Sexual histories revealed that 77% reported > or = 3 sexual partners during the last 3 years, 64% had had a sexual partner who did not inject drugs, and 61% reported a prior STD. The prevalence of HBV markers was 75%. In a multiple logistic regression analysis, a high risk for HBV markers was associated with an increasing duration of drug abuse, a high prevalence of hepatitis A markers, and an increasing number of drug injecting sexual partners during the last 3 years, indicating that sexual transmission, along with sharing of needles, may contribute to the high prevalence of HBV markers within this group. It is suggested that an adequate sexual history must be obtained from IVDAs with acute viral hepatitis in order to identify sexual partners who should be offered postexposure prophylaxis, and that non-immune IVDAs should be vaccinated against viral hepatitis A and B.

[Constant annual incidence of HIV infection among intravenous drug addicts]. / Konstant årsincidens av HIV-infektion bland injektionsmissbrukare.

Since January 1987 a study of HIV prevalence and risk behaviour among i v drug abusers at the remand prison in Stockholm has been carried out by a research team working independently of the penal system. On a voluntary basis, a standardised interview is carried out and an HIV blood test made. Of the 2,038 i v drug abusers who participated up to December 1991, ten per cent were HIV-positive. Of the 80 per cent who mainly used amphetamines, six per cent were seropositive, as compared with about 28 per cent of the remaining 20 per cent who were heroin addicts. The overall annual incidence of HIV infection was about one per cent. The cumulative prevalence decreased among heroin users during the observation period, but remained constant among amphetamine users. The frequency of injection equipment sharing showed a decline at the beginning of the observation period, but the level of sexual risk behaviour has remained high.

Effects of amphetamine on sexual behavior of male i.v. drug users in Stockholm--a pilot study.

Sexual behavior in connection with drug use and its implications for the risk of sexual transmission of human immunodeficiency virus (HIV) among intravenous drug users (IVDUs) was investigated in a pilot study of 29 men (who injected drugs more than once a week for at least 6 months) at the Remand Prison in Stockholm from November, 1989, to January, 1990. A structured interview focusing on sexual history and current sexual behavior with and without drugs was employed. The median age of the subjects was 32 years. Six were HIV-seropositive. The main drugs presently used were amphetamine (18 men), heroin (9 men) and cocaine (2 men). Of the 29 men, 27 had experience of sexual activity while using amphetamine. Of these, 23 reported that they became more sexually excited when on amphetamine, 21 reported intensified orgasms, and 23 reported that the drug prolonged intercourse. All 29 men had been sexually active, but only 6 of the amphetamine users had had more than 10 partners during the last 3 years. Condom use was very low; it was reported by only 3 men during their last intercourse with a causal partner. The findings suggest that sexual HIV transmission among IVDUs is a clear risk, especially among amphetamine users, and that education about condom use is urgent.

HIV status and changes in risk behaviour among intravenous drug users in Stockholm 1987-1988.

An HIV study initiated in January 1987 is being conducted at the Remand Prison in Stockholm, Sweden, in order to follow HIV seroprevalence and HIV risk behaviour among intravenous drug users (IVDUs) in Stockholm. Up to December 1988 1152 arrested and detained IVDUs were interviewed about risk behaviour and tested for HIV antibodies. Amphetamine, which is the main IVDUs drug used intravenously in Stockholm, was used by 958 of these, while heroin was used by 194. HIV seroprevalence was 12.6%: 5.9% among the amphetamine and 45.5% among the heroin users. The HIV incidence was calculated to be 0.9% in 1987 and 1.2% in 1988, higher for amphetamine than for heroin users. Some risk reduction was reported regarding needle sharing, but less so regarding sexual behaviour.