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Jennifer LaRusso Franziska Ringpfeil Jouni Uitto 《CTS Clinical and Translational Science》2010,3(6):295-298
Pseudoxanthoma elasticum (PXE), an autosomal recessive multisystem disorder, is caused by mutations in the ABCC6 gene, and approximately 300 distinct mutations representing >1,000 mutant alleles have been disclosed thus far. Few population‐based studies have reported mutational hotspots in some geographic areas. In this study, we attempted to correlate recurring mutations with the individuals’ ethnic origin. Specifically, we plotted our international database of 70 families from distinct or mixed ethnic backgrounds against their mutations. The frequent p.R1141X mutation was distributed widely across Europe, while deletion of exons 23–29 (del23–29) was encountered in Northern Europe and in Northern Mediterranean countries. p.R1138W may be a marker for French descent, evidenced by its presence also in French Canadians. The splice site transition mutation 3736–1G→A was seen in the neighboring countries Greece and Turkey, whereas 2542 delG occurs only in the Japanese. Two mutations seem to be present worldwide without evidence of a founder effect, p.Q378X and p.R1339C, suggesting the presence of mutational hotspots. Knowledge of this distribution will allow us to streamline mutation screening through a targeted, stepwise approach when the ethnicity of a patient is known. This will facilitate the identification of individuals at risk, improving their care to prevent ophthalmological and vascular disease. Clin Trans Sci 2010; Volume 3: 295–298 相似文献
34.
Martin Stroedicke Yacine Bounab Nadine Strempel Konrad Klockmeier Sargon Yigit Ralf P. Friedrich Gautam Chaurasia Shuang Li Franziska Hesse Sean-Patrick Riechers Jenny Russ Cecilia Nicoletti Annett Boeddrich Thomas Wiglenda Christian Haenig Sigrid Schnoegl David Fournier Rona K. Graham Michael R. Hayden Stephan Sigrist Gillian P. Bates Josef Priller Miguel A. Andrade-Navarro Matthias E. Futschik Erich E. Wanker 《Genome research》2015,25(5):701-713
35.
Marco Armbruster Sebastian Gassenmaier Mareike Haack Maximilian Reiter Dominik Nörenberg Thomas Henzler Nora N. Sommer Wieland H. Sommer Franziska Braun 《International journal of computer assisted radiology and surgery》2018,13(12):1971-1980
Purpose
To investigate whether structured reports (SRs) provide benefits regarding the completeness and the clarity of reports, as well as regarding the satisfaction of the referring physicians compared to narrative freetext reports (NRs) of MRI examinations of the petrous bone.Methods
After sample size calculation, 32 patients with clinically indicated MRI examinations of the petrous bone were included in this retrospective study. The already existing NRs were taken from the radiologic information system. The corresponding SRs were retrospectively generated by two radiologists using an online-based application. All 64 reports (one NR and one SR per patient) were evaluated by two head and neck physicians using a questionnaire.Results
While 41% of the SRs showed no missing report key feature, all NRs exhibited at least one missing key feature (p?<?0.001). SRs achieved significantly higher satisfaction rates regarding the linguistic quality and overall report quality compared to NRs: Using a 6-point Likert scale (1?=?insufficient to 6?=?excellent), SRs were rated with a median value of 6 [interquartile range (IQR): 1] for linguistic as well as overall quality, and NRs were rated with a median of 5 (IQR: 0) for linguistic as well as overall quality (p?<?0.001).Conclusions
Structured reporting of petrous bone MRI examinations may positively influence the completeness and quality of radiologic reports. Due to the easier readability and facilitation of information extraction, SRs improve the satisfaction level of the referring physicians.36.
Hagen?BombergEmail authorView authors OrcID profile Franziska?Meiser Sarah?Zimmer Martin?Bellgardt Thomas?Volk Daniel?I.?Sessler Heinrich?V.?Groesdonk Andreas?Meiser 《Journal of clinical monitoring and computing》2018,32(4):639-646
AnaConDa-100 ml (ACD-100, Sedana Medical, Uppsala, Sweden) is well established for inhalation sedation in the intensive care unit. But because of its large dead space, the system can retain carbon dioxide (CO2) and increase ventilatory demands. We therefore evaluated whether AnaConDa-50 ml (ACD-50), a device with half the internal volume, reduces CO2 retention and ventilatory demands during sedation of invasively ventilated, critically ill patients. Ten patients participated in this cross-over protocol. After sedation with isoflurane via ACD-100 for 24 h, the 5-h observation period started. During the first hour, ACD-100 was used; for the next 2 h, ACD-50; and for the last 2 h, ACD-100 was used again. Sedation was titrated to Richmond Agitation and Sedation Scale (RASS) score ??3 to ??4 and a processed electroencephalogram (Narcotrend Index, Narcotrend-Gruppe, Hannover, Germany) was recorded. Minute ventilation, CO2 elimination, and isoflurane consumption were compared. All patients were deeply sedated (Narcotrend Index, mean?±?SD: 38?±?10; RASS scores ??3 to ??5) and breathed spontaneously with pressure support throughout the observation period. Infusion rates of isoflurane and opioid, either remifentanil or sufentanil, as well as ventilator settings were unchanged. Minute ventilation and end-tidal CO2 were significantly reduced with the ACD-50, respiratory rate remained unchanged, and tidal volume decreased by 66?±?43 ml. End-tidal isoflurane concentrations were also slightly reduced while haemodynamic measures remained constant. The ACD-50 reduces the tidal volume needed to eliminate carbon dioxide without augmenting isoflurane consumption. 相似文献
37.
Franziska Albers Lydia Wachsmuth Timo Mauritz van Alst Cornelius Faber 《Molecular imaging and biology》2018,20(2):171-182
Recent developments of optogenetic tools and fluorescence-based calcium recording techniques enable the manipulation and monitoring of neural circuits on a cellular level. Non-invasive imaging of brain networks, however, requires the application of methods such as blood oxygen level-dependent (BOLD) functional magnetic resonance imaging (fMRI), which is commonly used for functional neuroimaging. While BOLD fMRI provides brain-wide non-invasive reading of the hemodynamic response, it is only an indirect measure of neural activity. Direct observation of neural responses requires electrophysiological or optical methods. The latter can be combined with optogenetic control of neuronal circuits and are MRI compatible. Yet, simultaneous optical recordings are still limited to fiber-optic-based approaches. Here, we review the integration of optical recordings and optogenetic manipulation into fMRI experiments. As a practical example, we describe how BOLD fMRI in a 9.4-T small animal MR scanner can be combined with in vivo fiber-optic calcium recordings and optogenetic control in a multimodal setup. We present simultaneous BOLD fMRI and calcium recordings under optogenetic control in rat. We outline details about MR coil configuration, choice, and usage of opsins and chemically and genetically encoded calcium sensors, fiber implantation, appropriate light power for stimulation, and calcium signal detection, to provide a glimpse into challenges and opportunities of this multimodal molecular neuroimaging approach. 相似文献
38.
Steffen Moritz Jakob Fink Franziska Miegel Katharina Nitsche Vivien Kraft Peter Tonn Lena Jelinek 《Cognitive therapy and research》2018,42(5):650-660
The present study aimed to elucidate the profile of coping in patients with obsessive–compulsive disorder (OCD) in order to discern whether the disorder is characterized by an excess of maladaptive coping skills and/or a lack of adaptive coping skills. Sixty individuals with OCD were compared with 110 individuals with depression and 1050 nonclinical controls on the Maladaptive and Adaptive Coping Styles Questionnaire (MAX). Psychopathology was assessed with the Obsessive–Compulsive Inventory-Revised (OCI-R), the Yale-Brown Obsessive–Compulsive Scale (Y-BOCS), and the Patient Health Questionnaire-9 for depression (PHQ-9). Individuals with OCD and depression displayed more maladaptive coping and avoidance as well as less adaptive coping than nonclinical controls. Importantly, adaptive coping was significantly lower in individuals with OCD than in those with depression at a medium effect size, whereas the clinical groups were indistinguishable on maladaptive coping and avoidance. Lack of adaptive coping was strongly correlated with resistance to symptoms and poor insight in OCD (Y-BOCS), even after controlling for depression. Lack of adaptive coping skills may represent a specific pathogenetic factor in OCD. Longitudinal studies need to clarify whether strengthening adaptive skills during childhood and adolescence may help to prevent the progression from subclinical to manifest OCD. 相似文献
39.
Annegrit Decker Franziska Schauer Adhara Lazaro Carmen Monasterio Arthur Robert Schmidt Annette Schmitt-Graeff Wolfgang Kreisel 《World journal of gastroenterology : WJG》2022,28(41):5893-5909
Lichen planus (LP) is a frequent, chronic inflammatory disease involving the skin, mucous membranes and/or skin appendages. Esophageal involvement in lichen planus (ELP) is a clinically important albeit underdiagnosed inflammatory condition. This narrative review aims to give an overview of the current know ledge on ELP, its prevalence, pathogenesis, clinical manifestation, diagnostic criteria, and therapeutic options in order to provide support in clinical mana gement. Studies on ELP were collected using PubMed/Medline. Relevant clinical and therapeutical characteristics from published patient cohorts including our own cohort were extracted and summarized. ELP mainly affects middle-aged women. The principal symptom is dysphagia. However, asymptomatic cases despite progressed macroscopic esophageal lesions may occur. The pathogenesis is unknown, however an immune-mediated mechanism is probable. Endoscopically, ELP is characterized by mucosal denudation and tearing, trachealization, and hyperkeratosis. Scarring esophageal stenosis may occur in chronic courses. Histologic findings include mucosal detachment, T-lymphocytic infiltrations, epithelial apoptosis (Civatte bodies), dyskeratosis, and hyperkeratosis. Direct immuno-fluorescence shows fibrinogen deposits along the basement membrane zone. To date, there is no established therapy. However, treatment with topical steroids induces symptomatic and histologic improvement in two thirds of ELP patients in general. More severe cases may require therapy with immunosuppressors. In symptomatic esophageal stenosis, endoscopic dilation may be necessary. ELP may be regarded as a precancerous condition as transition to squamous cell carcinoma has been documented in literature. ELP is an underdiagnosed yet clinically important differential diagnosis for patients with unclear dysphagia or esophagitis. Timely diagnosis and therapy might prevent potential sequelae such as esophageal stenosis or development of invasive squamous cell carcinoma. Further studies are needed to gain more knowledge about the pathogenesis and treatment options. 相似文献
40.
Melatonin stimulates the activity of protective antioxidative enzymes in myocardial cells of rats in the course of doxorubicin intoxication 总被引:1,自引:0,他引:1
Dziegiel P Murawska-Ciałowicz E Jethon Z Januszewska L Podhorska-Okołów M Surowiak P Zawadzki M Rabczyński J Zabel M 《Journal of pineal research》2003,35(3):183-187
The study aimed at determining the effect of melatonin on the activity of protective antioxidative enzymes in the heart and of lipid peroxidation products in the course of intoxication with doxorubicin (DOX). The rats were categorized into four groups, receiving: 0.9% NaCl i.p. (NaCl control); melatonin [20 mg/kg body weight (b.w.)] s.c. (control Mel); DOX (2.5 mg/kg b.w.) i.p.; melatonin plus DOX in doses as above. All the substances were administered once in a week for four consecutive weeks. Homogenates of heart tissue were examined for activities of glutathione peroxidase (GPx), superoxide dismutase (SOD), catalase (CAT), levels of reduced glutathione (GSH) and of lipid peroxidation indices (MDA + 4-HDA). Administration of melatonin alone did not induce alterations in levels of MDA + 4-HDA, GSH, or in activity of GPx, SOD or CAT, as compared to the group receiving 0.9% NaCl. GSH levels decreased following DOX but remained at normal levels following DOX and melatonin. The level of MDA + 4-HDA increased following DOX, as compared with the control, a change prevented by the combination of DOX + melatonin. Activities of GPx, SOD and CAT were higher in groups receiving DOX and/or DOX plus melatonin than in control groups. Activity of CAT and the level of GSH in the group receiving DOX plus melatonin were significantly higher than in the group intoxicated with DOX alone. The obtained results demonstrate that, when given in parallel with DOX, melatonin protects cardiomyocytes from damaging effects of the cytostatic drug (reflected by the levels of MDA + 4-HDA). The protective effect resulted, in part from the augmented levels of GSH and from stimulation of CAT activity by melatonin in cardiomyocytes subjected to the action of DOX. 相似文献