CDKN2A mutations and melanoma risk in the Icelandic population.

BACKGROUND: Germline CDKN2A mutations have been observed in 20-40% of high risk, melanoma prone families; however, little is known about their prevalence in population based series of melanoma cases and controls. METHODS: We resequenced the CDKN2A gene, including the p14ARF variant and promoter regions, in approximately 703 registry ascertained melanoma cases and 691 population based controls from Iceland, a country in which the incidence of melanoma has increased rapidly. RESULTS: We identified a novel germline variant, G89D, that was strongly associated with increased melanoma risk and appeared to be an Icelandic founder mutation. The G89D variant was present in about 2% of Icelandic invasive cutaneous malignant melanoma cases. Relatives of affected G89D carriers were at significantly increased risk of melanoma, head and neck cancers, and pancreatic carcinoma compared to relatives of other melanoma patients. Nineteen other germline variants were identified, but none conferred an unequivocal risk of melanoma. CONCLUSIONS: This population based study of Icelandic melanoma cases and controls showed a frequency of disease related CDKN2A mutant alleles ranging from 0.7% to 1.0%, thus expanding our knowledge about the frequency of CDKN2A mutations in different populations. In contrast to North America and Australia where a broad spectrum of mutations was observed at a similar frequency, in Iceland, functional CDKN2A mutations consist of only one or two different variants. Additional genetic and/or environmental factors are likely critical for explaining the high incidence rates for melanoma in Iceland. This study adds to the geographic regions for which population based estimates of CDKN2A mutation frequencies are available.

Decreased sexual capacity after external radiation therapy for prostate cancer impairs quality of life.

PURPOSE: The aim of this study was to assess to what extent patients treated with radiation therapy for prostate cancer experience change in sexual functioning and to what extent this effects quality of life. METHODS AND MATERIALS: Information was provided by 53 men treated with radiation therapy for localized prostate cancer. Assessment was made with the "Radiumhemmets Scale of Sexual Functioning," which measures sexual desire, erectile capacity, orgasm, and to what extent a decrease in any of these aspects of sexual functioning affects quality of life. Function before treatment was assessed retrospectively. RESULTS: Sexual desire diminished among 77% after treatment. The erection stiffness decreased in 77%. Before external radiation therapy, 66% had an erection usually sufficient for intercourse. Half of the men lost this ability after treatment. Of those retaining orgasm after treatment, 47% reported a decreased orgasmic pleasure and 91% a reduced ejaculation volume. Of all men, 50% reported that quality of life had decreased much or very much due to a decline in the erectile capacity following external radiation therapy. CONCLUSION: The results of the present study indicate that external radiation therapy for prostate cancer is associated with a reduction in sexual desire, erectile capacity, and organism functions. In a majority of patients this reduces quality of life. Previously, we may have underestimated the importance an intact sexual function has for the quality of life in this patient category of elderly men.

Jejunitis cystica profunda in a hamartomatous polyp. Report of a case.

A patient with a history of abdominal discomfort and rectal bleeding was discovered to have two hamartomatous polyps, one of the jejunum and one of the colon. The former was associated with mucinous cysts at its base. The findings were similar to those described for colitis cystica profunda. This case is a rare example of cystica profunda disease of the small bowel. Uniquely, it was associated with a hamartomatous polyp.

Languages, geography and HLA haplotypes in native American and Asian populations.

A number of studies based on linguistic, dental and genetic data have proposed that the colonization of the New World took place in three separate waves of migration from North-East Asia. Recently, other studies have suggested that only one major migration occurred. It is the aim of this study to assess these opposing migration hypotheses using molecular-typed HLA class II alleles to compare the relationships between linguistic and genetic data in contemporary Native American populations. Our results suggest that gene flow and genetic drift have been important factors in shaping the genetic landscape of Native American populations. We report significant correlations between genetic and geographical distances in Native American and East Asian populations. In contrast, a less clear-cut relationship seems to exist between genetic distances and linguistic affiliation. In particular, the close genetic relationship of the neighbouring Na-Dene Athabaskans and Amerindian Salishans suggests that geography is the more important factor. Overall, our results are most congruent with the single migration model.

Improving the preservation of erectile function after external beam radiation therapy for prostate cancer.

BACKGROUND AND PURPOSE: To investigate whether the type of collimation technique, target dose and treated volume influence the prevalence of intact erectile function after external beam radiation therapy for localized prostate cancer. PATIENTS AND METHODS: A prospective study was conducted to assess erection stiffness before treatment and after follow-ups of 9-18 months and 4-5.5 years. Information was collected using the Radiumhemmet Scale of Sexual Function. RESULTS: Thirty-one men were 'potent' before the radiation. Fourteen of them were treated with a conventional collimator and 17 were given three-dimensional conformal therapy with the aid of a multileaf collimator. Preserved erectile function at 9-18 months was found in 17 of the 31 men (55%) and at the 4-5-year follow-up in five of 22 (23%). Preservation of potency was related to the treatment procedure but not to the treatment volume. CONCLUSIONS: Conformal therapy may increase the percentage of men preserving erectile function during radiotherapy for localized prostate cancer; it is possible that the differences to conventional therapy do not depend on treated volume.

Thoracoscopy: technique and results in eighteen patients with pleural effusion.

Eighteen patients with pleural effusion were examined. Nine patients had malignant neoplasm and in one the pleura was diffusely involved. Nine patients had pleural effusion of inflammatory origin. One of these was due to tuberculosis, one to trichinosis and the other seven were nonspecific. Thoracotomy in three of these seven failed to add additional information. All patients tolerated pneumothorax well with equilibration of pleural space and atmospheric pressure.

Transtheoretical model: investigation of adolescents' sunbathing behaviour.

The incidence of malignant melanoma and non-melanoma skin cancers has increased rapidly in Sweden as well as in other western countries during the last 20 years. Adolescents are an important group in skin cancer prevention. Interventions targeting this group have been reported to affect knowledge and attitudes, but the effect on sun protection behaviour has been slight. The aim of this study was to investigate the applicability of the Transtheoretical Model (TTM) for skin cancer prevention for adolescents. A random sample of 1200 18-year-olds living in Stockholm County was selected from the national census registry. A questionnaire that included three of the major constructs of the TTM (i.e. stages of change, processes of change and decisional balance) was sent by mail. The majority of the teenagers were in the precontemplation stage for giving up intentional tanning. The relations between the stages of change and two other major constructs of the TTM, processes of change and decisional balance, were consistent with data on other health behaviours. The results may aid in developing successful skin cancer prevention programmes. The results give support for the stages of change measurement used in this study and that utilizing the TTM in skin cancer prevention may be appropriate.

Readiness to change sun-protective behaviour.

The incidence of malignant melanoma and non-melanoma skin cancers has increased rapidly in Sweden during the last 20 years. The best-known way to revert this trend is primary prevention. Matching health messages to readiness to change in the population may enhance the effect of community-based prevention. The aims of this study were to investigate readiness to change sun-protective behaviour in two groups (visitors to mobile screening units and beach-goers) and to test a single-item algorithm in assessing the stage of change in sun-protective behaviour. Seven hundred and forty-two visitors to the mobile screening units and 202 individuals on nearby beaches answered a short questionnaire. The assessment of readiness to change was based on stages of change in sun-protective behaviour modified from the Transtheoretical Model of Behaviour Change. As expected, the visitors to the screening units were more often in action/maintenance stages than the beach group for most sun-protective behaviours. In conclusion, the single-item algorithm method appears to be sensitive to assess readiness to change sun-protective behaviour, based on the Transtheoretical Model of Behaviour Change. This method can be incorporated into population surveys and may aid in developing successful skin cancer prevention programmes.

Y-chromosomal STR haplotypes in Pakistani populations.

16 Y-specific STR loci have been analysed in 711 males from 12 populations in Pakistan. Individual loci showed between 4 and 10 alleles, and diversities ranged from 0.07 to 0.77. A total of 527 different haplotypes were found and the haplotype diversity ranged from 0.92 to 0.99 for the different populations. 446 haplotypes occurred in single individuals, and only 19 haplotypes were present in more than three males, but two striking examples of haplotype sharing were found, one involving 13 individuals, and the other 17. The 13 individuals were all Parsis, and 16 of the 17 were Brahuis, providing evidence for population substructuring.

Knowledge, attitudes and smoking behavior among Lao doctors.

The aim of this study was to describe the knowledge, attitudes and smoking behavior among doctors at Mahosot University Hospital in Lao PDR. A cross-sectional, descriptive study used a self-administered anonymous questionnaire. The study population comprised 164 doctors. Answers were retrieved from 151 (92%) of the doctors. The prevalence of smoking among male doctors was 35%, 16% smoked daily and 19% occasionally. None of the female doctors reported to have ever smoked. Out of the five diseases related to smoking, 5% of the doctors recognized all and 10% recognized only one. Doctors were significantly more likely to advise patients with symptoms related to smoking. However, approximately one in two doctors reported that they did not always counsel smokers with severe smoking related symptoms to stop smoking. Almost all doctors, independent of smoking behavior, perceived tobacco prevention to be important. The findings indicate a lack of comprehensive knowledge on tobacco related issues. Most doctors expressed a positive attitude towards tobacco prevention. An effort is needed to get doctors in Lao PDR to stop smoking engage in smoking assation support.

Genetic evidence for a family-based Scandinavian settlement of Shetland and Orkney during the Viking periods.

The Viking age witnessed the expansion of Scandinavian invaders across much of northwestern Europe. While Scandinavian settlements had an enduring cultural impact on North Atlantic populations, the nature and extent of their genetic legacy in places such as Shetland and Orkney is not clear. In order to explore this question further, we have made an extensive survey of both Y-chromosomal and mitochondrial DNA (mtDNA) variation in the North Atlantic region. Our findings indicate an overall Scandinavian ancestry of approximately 44% for Shetland and approximately 30% for Orkney, with approximately equal contributions from Scandinavian male and female subjects in both cases. This contrasts with the situation for the Western Isles, where the overall Scandinavian ancestry is less ( approximately 15%) and where there is a disproportionately high contribution from Scandinavian males. In line with previous studies, we find that Iceland exhibits both the greatest overall amount of Scandinavian ancestry (55%) and the greatest discrepancy between Scandinavian male and female components. Our results suggest that while areas close to Scandinavia, such as Orkney and Shetland, may have been settled primarily by Scandinavian family groups, lone Scandinavian males, who later established families with female subjects from the British Isles, may have been prominent in areas more distant from their homeland.

[Why do health personnel neglect to talk about passive smoking with parents of small children?]. / Hvorfor unnlater helsepersonell å snakke med småbarnsforeldre om passiv røyking?

BACKGROUND: Health personnel make only moderate efforts at motivating parents to establish a smoke-free indoor environment for babies and infants. It is only when children show symptoms of exposure to tobacco smoke that they routinely raise the question of passive smoking during consultations with the parents. We wanted to find out why so many neglect to raise the matter when there is still time to prevent injury to the child. MATERIAL AND METHODS: A pre-categorised questionnaire on possible obstacles to involvement in the matter was mailed to a representative sample of 1050 GPs, the senior midwives at Norway's 77 maternity departments, 492 senior public health nurses, and personnel at 1024 mother-and-child clinics. The response rate varied from 71% (GPs) to 82% (senior midwives). RESULTS: Public health nurses, midwives and doctors at the clinics regard it as part of their work to talk to parents about the possible effects of passive smoking on their children's health. The obstacles are a feeling of embarrassment at raising the matter, and not knowing how to talk to the parents about the problem. Even so, a clear majority experience a positive response from smoking parents when they discuss how to prevent the children from inhaling tobacco smoke. Among the GPs the main reason for not raising the matter is lack of time, followed by embarrassment at taking it up and lack of knowledge about the health risks. INTERPRETATION: Health personnel seem to need training in conversation techniques in this connection.

Environmental tobacco smoke exposure of young children--attitudes and health-risk awareness in the Nordic countries.

AIMS: To assess attitudes towards environmental tobacco smoke (ETS) and health-risk awareness regarding the potential hazards of ETS for children among parents of young children in the Nordic countries. Also to investigate to what extent these factors are related to ETS exposure of the children. DESIGN: A cross-sectional community-based survey using an anonymous mailed questionnaire. PARTICIPANTS: Parents of children aged 3 years at the time of selection from a random sample of 5500 households in the Nordic countries (Sweden, Norway, Denmark, Iceland and Finland). MAIN OUTCOME MEASURES: Smoking status of parents, weekly ETS exposure of children within and outside the home, health-risk awareness and attitudes regarding the potential hazards of passive smoking. FINDINGS: Two in three parents who smoked did not recognize the increased risk for an inner ear infection and approximately 50% were not aware of the role of parental smoking in recruiting smokers. One in two smokers tended to agree or agreed that an act should be passed which forbids all indoor smoking in the vicinity of children. After adjustment for covariates, the level of health-risk awareness about ETS was significantly related to no ETS exposure within and outside the home. CONCLUSION: The main findings indicate that educating parents about the established health risks of ETS for their children may significantly reduce children's exposure to ETS. An increased effort is needed to educate parents who smoke on the potential health risks of ETS for their children.