TP53 mutations in ovarian carcinomas from sporadic cases and carriers of two distinct BRCA1 founder mutations; relation to age at diagnosis and survival

Background  

Ovarian carcinomas from 30 BRCA1 germ-line carriers of two distinct high penetrant founder mutations, 20 carrying the 1675delA and 10 the 1135insA, and 100 sporadic cases were characterized for somatic mutations in the TP53 gene. We analyzed differences in relation to BRCA1 germline status, TP53 status, survival and age at diagnosis, as previous studies have not been conclusive.     

Gene–environment interactions in the aetiology of systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a disease that displays a multitude of symptoms and a vast array of autoantibodies. The disease course may vary substantially between patients. The current understanding of SLE aetiology includes environmental factors acting on a genetically prone individual during an undetermined time period resulting in autoimmunity and finally surpassing that individual's disease threshold. Genetic differences and environmental factors may interact specifically in the pathogenetic processes and may influence disease development and modify the disease course. Identification of these factors and their interactions in the pathogenesis of SLE is vital in understanding the disease and may contribute to identify new treatment targets and perhaps also aid in disease prevention. However, there are several problems that need to be overcome, such as the protracted time frame of environmental influence, time dependent epigenetic alterations and the possibility that different pathogenetic pathways may result in a similar disease phenotype. This is mirrored by the relatively few studies that suggest specific gene-environment interactions. These include an association between SLE diagnosis and glutathion S-transferase gene variants combined with occupational sun exposure as well as variants of the N-acetyl transferase gene in combination with either aromatic amine exposure or hydralazine. With increased knowledge on SLE pathogenesis, the role of environmental factors and their genetic interactions may be further elucidated.     

Reliability of a multidimensional questionnaire for adults with treated complete cleft lip and palate

The purpose of this study was to evaluate the reliability of a multidimensional questionnaire for Swedish adults with treated complete unilateral or bilateral cleft lip and palate (CLP). The questionnaire was designed to be used in the evaluation of adults with treated CLP after treatment. Before any conclusions were drawn from the results of the study we assessed the test-retest reliability of the questionnaire. The questionnaire included 168 questions and assessed the following domains: aesthetics, functions associated with CLP, satisfaction with treatment and perceived need for treatment, quality of life, depression and non-specific physical symptoms, body image, and jaw function. The subjects answered the questionnaire twice at a 2-3-week interval. Sixty-one adults (38 men, 23 women) mean age 24 years (range 20-29) participated in the study. The response rate for the questionnaire was acceptable at 75%. The test-retest reliability varied among the different domains. The reliability of questions regarding aesthetics, functions associated with CLP, and treatment satisfaction was good to excellent (intraclass correlation coefficient (ICC) = 0.51 to 0.89). Good to excellent (ICC = 0.61 to 1.0) reliability was also found for the quality of life in various life domains and the wellbeing scales. The reliability of the body image scale was moderate (kappa = 0.43-0.60) for most items and lower than that of other scales used in this study. The reliability of the mean depression symptom score (ICC = 0.93) and the mean non-specific physical symptoms score (ICC = 0.85) were excellent. The reliability of the mandibular function impairment was good (ICC = 0.67). The conclusion of the study is that an overall reliability was good for the multidimensional questionnaire.     

Immune parameters in the intestine of wild and reared unvaccinated and vaccinated Atlantic salmon (Salmo salar L.)

Forming a barrier to the outside world, the gut mucosa faces the challenge of absorbing nutrients and fluids while initiating immune reactions towards potential pathogens. As a continuation to our previous publication focusing on the regional intestinal morphology in wild caught post smolt and spawning Atlantic salmon, we here investigate selected immune parameters and compare wild, reared unvaccinated and vaccinated post smolts.     

Melde- und Informationssystem für bedeutsame Vorkommnisse bei Strahlenanwendungen in der Medizin: Struktur,Zuständigkeiten und Meldekriterien

The increasing frequency and complexity of medical radiation exposures to humans inevitably result in higher risks of harmful unintended or accidental radiation exposures. To ensure a high level of protection and its continuous improvement, the Directive 2013/59/Euratom thus requires to systematically record and analyze both events and near-miss events as well as, in the case of their significance, to disseminate information regarding lessons learned from these events promptly and nationwide to improve radiation protection in medicine. These requirements have been transposed into German legislation by the new radiation protection law and radiation protection ordinance that entered into force simultaneously on December 31^th, 2018. The reporting and information system as provided by these regulations as well as the tasks, duties and powers of the parties involved are presented in the first part of this review article. In the second part, the established application-specified criteria for the significance – and thus the notification requirement - of (near-miss) events are itemized and explicated.     

Dental Occlusion and the Health of the Masticatory System

The purpose of this article is to review recent dental literature dealing with the association between occlusal factors and functional disturbances of the masticatory system. There has been much controversy among various authors about the role of occlusion in mandibular dysfunction.

Studies on the number of teeth and the state of the dentition have shown no distinct patterns in patients with mandibular dysfunction. This can probably be explained by the existence of a wide range of individual adaptability to occlusal conditions. In most studies only weak correlations, if any, have been found between occlusal interferences and mandibular dysfunction. This article reviews clinical, electromyographic, experimental, and epidemiologic studies for such possible consequences.

The findings of our study lend support to the idea that the etiology of mandibular dysfunction is multifactorial. Occlusal factors generally seem to be of minor importance. It is thus probable that extensive occlusal rehabilitation is not necessary, at least in the initial phase, for treatment of mandibular dysfunction.