Introduction The pathogenesis of atopic diseases is highly complex, and the exact mechanisms leading to atopic dermatitis (AD) onset in infants remain mostly enigmatic. In addition to an interdependent network of components of skin development in young age and skin barrier dysfunction underlying AD development that is only partially understood, a complex interplay between environmental factors and lifestyle habits with skin barrier and immune dysregulation is suspected to contribute to AD onset. This study aims to comprehensively evaluate individual microbiome and immune responses in the context of environmental determinants related the risk of developing AD in the first 4 years of a child's life. Methods and analyses The 'Munich Atopic Prediction Study' is a comprehensive clinical and biological investigation of a prospective birth cohort from Munich, Germany. Information on pregnancy, child development, environmental factors, parental exposures to potential allergens and acute or chronic diseases of children and parents are collected by questionnaires together with a meticulous clinical examination by trained dermatologists focusing on allergies, skin health, and in particular signs of AD at 2 months after birth and then every 6 months. In addition, skin barrier functions are assessed through cutometry, corneometry and transepidermal water loss at every visit. These measurements are completed with allergy diagnostics and extensive microbiome analyses from stool and skin swabs as well as transcriptome analyses using skin microbiopsies.The aim is to assess the relevance of different known and yet unknown risk factors of AD onset and exacerbations in infants and to identify possible accessible and robust biomarkers. Ethics and dissemination The study is approved by the Ethical Committee of the Medical Faculty of the Technical University of Munich (reference 334/16S). All relevant study results will be presented at national and international conferences and in peer-reviewed journals.
Takayasu's arteritis (TA) is a rare inflammatory disease of the arteries that affects women of childbearing age. The optimal management for pregnant patients with this disease has not yet been defined. The course of disease seems to be neither affected nor worsened by pregnancy. We could not find reported maternal deaths directly related to pregnancy. However, many authors report maternal as well as fetal unfavorable events in the course of pregnancy. We describe a 25-year-old primigravida of Turkish-Greek origin who presented at 30 weeks of pregnancy with active TA. In the 37(th) week, intrauterine fetal death occurred. Our patient did not show high blood pressure or aortic inflammation. The course of her disease was stable. Whether a newly diagnosed TA during pregnancy should be regarded as an indication for premature delivery is discussed. An interdisciplinary collaboration of rheumatologists, nephrologists and obstetricians is necessary to improve maternal and fetal prognosis.
BACKGROUND:Due to rising cure rates in cancer, the question of preserving fertility in young female patients becomes more important. Especially in lymphomas, incidence and long-time survival have increased. Hematologists and gynecologists have to treat more and more female patients who wish to become pregnant despite their disease and/or after finishing treatment.CASE REPORT:We report on a 28-year-old patient with highly malignant non-Hodgkin's lymphoma (peripheral T cell lymphoma, Ann Arbor stage IV) and main manifestation at the gastric antrum, with a distinct wish for becoming pregnant. Chemotherapy was strongly recommended to her, but she refused. After she had conceived, the disease recurred, followed by stillbirth in week 19 of gestation and death due to gastric perforation and septic shock.CONCLUSIONS:Facing the risk of sterility after chemotherapy should not induce patients to refuse chemotherapy and risk their lives. Treatment of young female cancer patients should therefore always include a thorough discussion about other ways of preserving fertility for the time after treatment. Such strategies exist, although their success is still limited and not every patient is eligible for them.
About 5-10% of breast and ovarian cancer cases are due to germline mutations in known high-risk susceptibility genes such as BRCA1 or BRCA2. There is a substantial proportion of families with a positive family history for these cancers, in which no mutation in one of the known susceptibility genes can be identified. In Germany, since 2005 the cost of genetic counseling, genetic testing and intensified surveillance programs for families at risk is taken over by most of the national health insurance companies. This is limited to a period of 3 years and by contract bound to university centers already specialized in the field. This article presents the current clinical guidelines for genetic testing, genetic counseling and intensified surveillance programs in Germany.
Ion-pair reversed-phase high-performance liquid chromatography on alkylated non-porous poly(styrene–divinylbenzene) particles allows the resolution of single-stranded DNA molecules of identical size (<100 nucleotides) that differ in a single base. Allelic discrimination is obtained by injecting short DNA amplicons containing the genetic variants of interest into an adequately preheated mobile phase that results in the instantaneous complete denaturation of the PCR products. All possible transitions and transversions other than C→G can be typed accurately. The method complements the discovery of single-nucleotide polymorphisms by means of HPLC based heteroduplex detection under partially denaturing conditions and allows their rapid genotyping without the need of adding a reference chromosome.