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991.
992.
Die Gastroenterologie - Immunglobulin-G4(IgG4)-assoziierte Erkrankungen (?IgG4-related diseases“, IgG4-RD) sind selten auftretende Autoimmunerkrankungen, die als Multisystemerkrankungen...  相似文献   
993.

Background

There is overlap in genetic causes and cardiac features in noncompaction cardiomyopathy (NCCM), hypertrophic cardiomyopathy (HCM), and dilated cardiomyopathy (DCM).

Objectives

The goal of this study was to predict phenotype and outcome in relatives according to the clinical features and genotype of NCCM index cases.

Methods

Retrospective DNA and cardiac screening of relatives of 113 families from 143 index patients were used to classify NCCM cases according to the cardiac phenotype. These cases were classified as isolated NCCM, NCCM with left ventricular (LV) dilation (DCM), and NCCM with LV hypertrophy (HCM).

Results

In 58 (51%) families, screening identified 73 relatives with NCCM and 34 with DCM or HCM without NCCM. The yield of family screening was higher in families with a mutation (p < 0.001). Fifty-four families had a mutation. Nonpenetrance was observed in 37% of the relatives with a mutation. Index cases were more often symptomatic than affected relatives (p < 0.001). NCCM with DCM (53%) was associated with LV systolic dysfunction (p < 0.001), increased risk for major adverse cardiac events, mutations in the tail of MYH7 (p < 0.001), and DCM without NCCM in relatives (p < 0.001). Isolated NCCM (43%) was associated with a milder course, mutations in the head of MYH7, asymptomatic NCCM (42%) (p = 0.018), and isolated NCCM in relatives (p = 0.004). NCCM with HCM (4%) was associated with MYBPC3 and HCM without NCCM in relatives (p < 0.001).

Conclusions

The phenotype of relatives may be predicted according to the NCCM phenotype and the mutation of index patients. NCCM phenotypes were related to outcome. In this way, clinical and genetic features of index patients may help prediction of outcome in relatives.  相似文献   
994.
Abstract

Between 10% and 15% of couples in western society are affected by infertility. As a major source of psychological distress, infertility may be accompanied by a substantial decline in well-being, and mental symptoms including those of depression and anxiety. This study aimed to quantify impairments in life satisfaction in infertile couples and to identify psychosocial variables moderating these impairments. For this purpose, 228 infertile couples completed the Life Satisfaction Questionnaire (LSQ), Perceived Stress Questionnaire (PSQ), Positive and Negative Affect Schedule (PANAS), Penn State Worry Questionnaire (PSWQ), Partnership Questionnaire (PQ), Social Support Questionnaire, (SSQ) and Questionnaire on the Desire to Have a Child (QDC). Our sample scored below the norm of the general population on the LSQ sum score and various subscales, including those assessing social relationships, health, sexuality, leisure activities, and self-evaluation. Correlation and regression analysis revealed an inverse association of life satisfaction (LSQ) with stress (PSQ), negative affect (PANAS), and worry (PSWQ), and positive associations with positive affect (PANAS), partnership quality (PQ), social support (SSQ), and the strength of the desire to have a child (QDC). These findings support the notion of markedly reduced satisfaction with numerous life areas in the context of infertility. Psychosocial factors such as increased stress related to infertility treatment, affective impairments, partnership problems, lack of social support or social exclusion may contribute to this reduction. Psychological interventions aimed at controlling stress, strengthening partnerships, and improving social inclusion may be helpful in reducing the burden of infertility and improving the life satisfaction of affected couples.  相似文献   
995.
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998.
Leg telangiectasias and reticular veins are a common complaint affecting more than 80 % of the population to some extent. To date, the gold standard remains sclerotherapy for most patients. However, there may be some specific situations, where sclerotherapy is contraindicated such as needle phobia, allergy to certain sclerosing agents, and the presence of vessels smaller than the diameter of a 30-gauge needle (including telangiectatic matting). In these cases, transcutaneous laser therapy is a valuable alternative. Currently, different laser modalities have been proposed for the management of leg veins. The aim of this article is to present an overview of the basic principles of transcutaneous laser therapy of leg veins and to review the existing literature on this subject, including the most recent developments. The 532-nm potassium titanyl phosphate (KTP) laser, the 585–600-nm pulsed dye laser, the 755-nm alexandrite laser, various 800–983-nm diode lasers, and the 1,064-nm neodymium yttrium–aluminum–garnet (Nd:YAG) laser and various intense pulsed light sources have been investigated for this indication. The KTP and pulsed dye laser are an effective treatment option for small vessels (<1 mm). The side effect profile is usually favorable to that of longer wavelength modalities. For larger veins, the use of a longer wavelength is required. According to the scarce evidence available, the Nd:YAG laser produces better clinical results than the alexandrite and diode laser. Penetration depth is high, whereas absorption by melanin is low, making the Nd:YAG laser suitable for the treatment of larger and deeply located veins and for the treatment of patients with dark skin types. Clinical outcome of Nd:YAG laser therapy approximates that of sclerotherapy, although the latter is associated with less pain. New developments include (1) the use of a nonuniform pulse sequence or a dual-wavelength modality, inducing methemoglobin formation and enhancing the optical absorption properties of the target structure, (2) pulse stacking and multiple pass laser treatment, (3) combination of laser therapy with sclerotherapy or radiofrequency, and (4) indocyanin green enhanced laser therapy. Future studies will have to confirm the role of these developments in the treatment of leg veins. The literature still lacks double-blind controlled clinical trials comparing the different laser modalities with each other and with sclerotherapy. Such trials should be the focus of future research.  相似文献   
999.
1000.
The Eustachian (or auditory) tube is of central importance for the regulation of ambient air pressure changes within the middle ear spaces. Dysfunction of the Eustachian tube usually leads to chronic inflammatory changes of the middle ear.

The aim of the present feasibility study was to investigate an alternative, minimally invasive approach for the application of fluids to the middle ear via the Eustachian tube. This so‐called transtubal application (TTA) was conducted in a prospective, non‐randomized study with a total of ten subjects. The TTA approach consisted of placing a microendoscope within the Eustachian tube under local anaesthesia via its epipharnygeal opening. Subsequently, fluids were applied through an additional working channel after microendoscopic evaluation. Therefore the subjects were positioned supine‐laterally and had to swallow actively. The successful fluid application into the middle ear was evidenced by microendoscopy of the tympanic membrane (visualization of the fluid level). In all cases, a successful application could be evidenced. Side effects (e.g. pain, mucosal injuries, microbleedings) were not observed.

This new technique (TTA) offers the opportunity of a minimally invasive approach to treat tubal dysfunction and possibly other middle ear diseases by local fluid and/or drug application.  相似文献   
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