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In a brief survey the work of Swedish porphyrinologists through time is presented, from the organic chemist Jakob Berzelius 1840 to the molecular biologists of today. The building up in Stockholm of a Swedish national competence centre for porphyria is touched upon and the emergence of a computerized national register on the porphyria gene carriers in the country described. Figures for the prevalences of the seven different forms of porphyria diagnosed in Sweden are given. The geographical distribution of gene mutation spectra is shown for the most frequent form, acute intermittent porphyria. The organisation at Porphyria Centre Sweden of its diagnostic and consultative services is described, as is the decentralized model for porphyria care applied in the form of a clinical network covering the long and sparsely populated country. The ideas and activities of the Swedish Porphyria Patients' Association are presented. Its focus on protection-by-information of the porphyria gene carrier against maltreatment in health service contacts, and against other exposures to environmental threats to his or her health, is discussed. The combined efforts of the national porphyria centre and the patients' association have resulted in early and accurate diagnosis of most of the porphyria gene carriers in the country. The information to the carriers and to the health service regarding the mechanisms of the diseases and the importance of avoiding exposure to disease triggering environmental factors have greatly reduced porphyric morbidity. In the case of the acute porphyrias, by this programme and after the introduction of heme arginate in the therapy, mortality in the acute phase has become extremely rare in Sweden. In contrast, probably due to greater awareness of the high risk for liver cancer in acute porphyrias the number of hepatoma cases diagnosed has increased. The current research activities at the Porphyria Centre which aim at finding ways to substitute the mutated gene in acute intermittent porphyria for an undamaged one, or to substitute the enzyme deficiency by administration of exogenously produced enzyme, are mentioned, as is the work to establish a reliable drug porphyrinogenicity prediction model for evidence based drug counselling. [ABSTRACT FROM AUTHOR]

Variegate porphyria (VP) is an autosomal-dominant disorder that is caused by inheritance of a partial deficiency of the enzyme protoporphyrinogen oxidase (EC 1.3.3.4). It is characterized by cutaneous photosensitivity and/or various neurological manifestations. Protoporphyrinogen oxidase catalyses the penultimate step of haem biosynthesis, and mutations in the PPOX gene have been coupled to VP. In the present study, sequencing analysis revealed 10 different mutations in the PPOX gene in 14 out of 17 apparently unrelated Swedish VP families. Six of the identified mutations, 3G > A (exon 2), 454C > T (exon 5), 472G > C (exon 6), 614C > T (exon 6), 988G > C (exon 10) and IVS12 + 2T > G (intron 12), are single nucleotide substitutions, while 604delC (exon 6), 916-17delCT (exon 9) and 1330-31delCT (exon 13) are small deletions, and IVS12 + 2-3insT (intron 12) is a small insertion. Only one of these 10 mutations has been reported previously. Three of the mutations were each identified in two or more families, while the remaining mutations were specific for an individual family. In addition to the 10 mutations, one previously unreported single nucleotide polymorphism was identified. Mutation analysis of family members revealed two adults and four children who were silent carriers of the VP trait. Genetic analysis can now be added to the conventional biochemical analyses and used in investigation of putative carriers of a VP trait in these families. [ABSTRACT FROM AUTHOR]

We give a short survey of the Swedish erythropoietic protoporphyria patients (EPP) with respect to the lapsed time between symptom debut and diagnosis. With two examples we illustrate the consequence of undiagnosed EPP for the patient and also the family. We recall efforts to spread information among health workers in order to investigate patients suffering from extreme sun-exposure intolerance for this uncommon kind of porphyria as well. [ABSTRACT FROM AUTHOR]

Background: The prevalence of smoking in Sweden has decreased in recent decades, and is now among the lowest in the world. During the same period, the use of Swedish moist oral snuff, a smokeless tobacco called snus, has increased. Few studies have evaluated time trends of the socioeconomic and geographic characteristics of snus users in Sweden. This paper contributes to filling that gap., Methods: This study utilized the Linnaeus Database, which links national registers with comprehensive individual data on socioeconomic status (SES) to health data from a large ongoing health survey, the Västerbotten Intervention Programme (VIP). The VIP targets the entire middle-aged population of Västerbotten county at ages 40, 50 and 60 years with yearly cross-sectional surveys including self-reported data on tobacco habits. Time trends of snus use among 92,563 VIP-participants across different areas of residence and smoking groups were investigated graphically. Logistic regression was performed to estimate the associations between SES and geographical variables and current use versus non-use of snus., Results: Overall, in parallel to decreasing smoking, the increasing trend of snus use in this middle-aged population continues, particularly in 40-year-olds. In both genders, the highest prevalence of snus use was observed among previous smokers. The prevalence of snus use also increased over time among smokers, and was consistently higher compared to those who had never smoked. Among males - both those who had never smoked and previous smokers - low education (OR 1.21, 95%CI 1.06-1.40 and OR 1.28, 95%CI 1.14-1.43), living alone (OR 1.16, 95%CI 1.07-1.27 and OR 1.13, 95%ci 1.04-1.23), low income and living in rural areas was associated with using snus, while this was not seen among male current smokers. Among women, living alone was associated with using snus irrespective of smoking habits. Among female smokers, the OR for snus use increased with higher education., Conclusions: A disadvantaged social profile and also higher prevalence in rural areas is observed among male snus users who had never smoked or were previous smokers. Among male smokers there was no association between SES and use of snus. The prevalence of snus use among women is increasing, but is still considerably lower than that of men. The association between snus and SES characteristics is less pronounced among women, although snus is clearly linked to living alone. These patterns should be taken into consideration in tobacco control policies.