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  • S. Karger AG  (13)
  • 2015-2019  (13)
  • 1
    Online Resource
    Online Resource
    Novel Insights into 46,XY Disorders of Sex Development due to 〈b〉〈i〉NR5A1〈/i〉〈/b〉 Gene Mutation
    S. Karger AG ; 2015
    In:  Sexual Development Vol. 9, No. 5 ( 2015), p. 260-268
    Details
    In: Sexual Development, S. Karger AG, Vol. 9, No. 5 ( 2015), p. 260-268
    Abstract: The differential diagnosis of 46,XY disorders of sex development (DSD) is based on the distinction between forms of gonadal dysgenesis and disorders of androgen biosynthesis and action. However, clinical and endocrine evaluations are often not conclusive. Here, we describe an adolescent female with hirsutism and hyperandrogenization at puberty. Her karyotype was 46,XY, and clinical investigation demonstrated clitoromegaly, but no uterine remnants were detected. Histology of the gonads revealed a testicular structure with a Sertoli-cell-only pattern. Endocrine evaluation showed hypergonadotropic hypogonadism, and the Sertoli cell markers inhibin B and anti-Müllerian hormone were also low. Several molecular genetic studies were initiated. While analyses of the androgen receptor gene, the 〈 i 〉 SRD5A2 〈 /i 〉 gene and 〈 i 〉 HSD17B3 〈 /i 〉 gene were uninformative, a novel p.L230R mutation was found in the 〈 i 〉 NR5A1 〈 /i 〉 gene. A mutant construct proved a severe dysfunction of this variant in functional analysis after recreation and transfection into HeLa cells. We conclude that the NR5A1 p.L230R mutation most likely leads to a spatial and time-dependent Leydig cell and Sertoli cell dysfunction during development not causing the classical gonadal dysgenesis phenotype. This case demonstrates that the current classification should be updated to encompass the overlapping phenotypes of some genetic conditions within 46,XY DSD.
    Type of Medium: Online Resource
    ISSN: 1661-5425 , 1661-5433
    URL: Article
    DOI: 10.1159/000442309
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2015
    detail.hit.zdb_id: 2261528-3
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  • 2
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    Anaerobic Microbial Degradation of Hydrocarbons: From Enzymatic Reactions to the Environment
    S. Karger AG ; 2016
    In:  Microbial Physiology Vol. 26, No. 1-3 ( 2016), p. 5-28
    Details
    In: Microbial Physiology, S. Karger AG, Vol. 26, No. 1-3 ( 2016), p. 5-28
    Abstract: Hydrocarbons are abundant in anoxic environments and pose biochemical challenges to their anaerobic degradation by microorganisms. Within the framework of the Priority Program 1319, investigations funded by the Deutsche Forschungsgemeinschaft on the anaerobic microbial degradation of hydrocarbons ranged from isolation and enrichment of hitherto unknown hydrocarbon-degrading anaerobic microorganisms, discovery of novel reactions, detailed studies of enzyme mechanisms and structures to process-oriented in situ studies. Selected highlights from this program are collected in this synopsis, with more detailed information provided by theme-focused reviews of the special topic issue on ‘Anaerobic biodegradation of hydrocarbons' [this issue, pp. 1-244]. The interdisciplinary character of the program, involving microbiologists, biochemists, organic chemists and environmental scientists, is best exemplified by the studies on alkyl-/arylalkylsuccinate synthases. Here, research topics ranged from in-depth mechanistic studies of archetypical toluene-activating benzylsuccinate synthase, substrate-specific phylogenetic clustering of alkyl-/arylalkylsuccinate synthases (toluene plus xylenes, p-cymene, p-cresol, 2-methylnaphthalene, n-alkanes), stereochemical and co-metabolic insights into n-alkane-activating (methylalkyl)succinate synthases to the discovery of bacterial groups previously unknown to possess alkyl-/arylalkylsuccinate synthases by means of functional gene markers and in situ field studies enabled by state-of-the-art stable isotope probing and fractionation approaches. Other topics are Mo-cofactor-dependent dehydrogenases performing O2-independent hydroxylation of hydrocarbons and alkyl side chains (ethylbenzene, p-cymene, cholesterol, n-hexadecane), degradation of p-alkylated benzoates and toluenes, glycyl radical-bearing 4-hydroxyphenylacetate decarboxylase, novel types of carboxylation reactions (for acetophenone, acetone, and potentially also benzene and naphthalene), W-cofactor-containing enzymes for reductive dearomatization of benzoyl-CoA (class II benzoyl-CoA reductase) in obligate anaerobes and addition of water to acetylene, fermentative formation of cyclohexanecarboxylate from benzoate, and methanogenic degradation of hydrocarbons.
    Type of Medium: Online Resource
    ISSN: 2673-1665 , 2673-1673
    URL: Article
    DOI: 10.1159/000443997
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2016
    detail.hit.zdb_id: 3042601-7
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  • 3
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    Sensitive Detection of Atrial Fibrillation in Acute Stroke Patients by Short-Term Bedside Electrocardiography Monitoring Software Analysis
    S. Karger AG ; 2018
    In:  Cerebrovascular Diseases Vol. 45, No. 1-2 ( 2018), p. 54-60
    Details
    In: Cerebrovascular Diseases, S. Karger AG, Vol. 45, No. 1-2 ( 2018), p. 54-60
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Atrial fibrillation (AF) is an important cause of stroke. Continuous electrocardiography (ECG) monitoring with software-based analysis algorithms has been suggested to enhance the AF detection rate. We investigated the ability of stroke risk analysis (SRA) in the detection of AF in acute stroke patients. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Consecutive stroke patients numbering 1,153 were screened. Patients with cardioembolic stroke related to AF ( 〈 i 〉 n 〈 /i 〉  = 296, paroxysmal 〈 i 〉 n 〈 /i 〉  = 63, persistent 〈 i 〉 n 〈 /i 〉  = 233) and patients with cryptogenic stroke ( 〈 i 〉 n 〈 /i 〉  = 309) after standard diagnostic work-up (bedside ECG monitoring, ultrasound, transesophageal echocardiography, 24 h Holter ECG) received SRA during their stay at the Stroke Unit. Determination of AF risk by SRA in the patients with AF and in the patient group with cryptogenic stroke was assessed and compared. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Median SRA monitoring analysis time was 16 h (range 2–206 h, interquartile range 10–36). In AF patients, SRA also detected a possible or definitive AF in 98%. The overall sensitivity of SRA to detect possible or definitive AF in patients with proven AF by standard diagnostic work up and cryptogenic stroke was 98%, specificity 27%, positive predictive value 56%, and the negative predictive value (NPV) was 92%. Area under ROC curve was 0.622. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 SRA was found to be highly sensitive to detect possible or definitive AF in clinical routine within a short monitoring time. However, low specificity and poor accuracy do not allow diagnosing AF by SRA alone, but with the high NPV compared to current diagnostic standard, it is a valid diagnostic tool to rule out AF. Thereby, SRA is a contribution to clarify stroke etiology.
    Type of Medium: Online Resource
    ISSN: 1015-9770 , 1421-9786
    URL: Article
    DOI: 10.1159/000485193
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1482069-9
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  • 4
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    Oxaliplatin-Induced Acute ST Segment Elevation Mimicking Myocardial Infarction: A Case Report
    S. Karger AG ; 2018
    In:  Oncology Research and Treatment Vol. 41, No. 1-2 ( 2018), p. 51-55
    Details
    In: Oncology Research and Treatment, S. Karger AG, Vol. 41, No. 1-2 ( 2018), p. 51-55
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Oxaliplatin is a platinum-based antineoplastic agent used for the treatment of colorectal cancer and other gastrointestinal tumors. In combination with 5-fluorouracil for instance it is given in the so-called FOLFOX regimen in patients with colorectal cancer in the adjuvant as well as the palliative treatment setting. Cumulative neuropathy is a common cause of treatment discontinuation. Other toxicities are generally tolerable and managed by dose reductions and/or supportive treatment. While chronic cardiotoxic effects of cytostatics are well described, there are few reports on acute cardiotoxic reactions. 〈 b 〉 〈 i 〉 Case Report: 〈 /i 〉 〈 /b 〉 The present case describes the sudden development of a transient coronary vasospasm in a 56-year-old male patient mimicking an acute ST segment elevation myocardial infarction during systemic treatment with oxaliplatin. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Oxaliplatin is one of the most commonly used cytostatics for gastrointestinal cancer. Coronary vasospasm has never been reported for oxaliplatin. Thus it is crucial to keep in mind that acute cardiotoxic side effects may occur, even with chemotherapeutic agents without a prior evidence-based description of such events.
    Type of Medium: Online Resource
    ISSN: 2296-5270 , 2296-5262
    URL: Article
    DOI: 10.1159/000480661
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 2749752-5
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  • 5
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    Pubertal Development in 17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
    S. Karger AG ; 2017
    In:  Hormone Research in Paediatrics Vol. 87, No. 5 ( 2017), p. 354-358
    Details
    In: Hormone Research in Paediatrics, S. Karger AG, Vol. 87, No. 5 ( 2017), p. 354-358
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Three patients were initially assigned a female sex and 1 was assigned a male sex. All had relevant mutations in the 〈 i 〉 HSD17B3 〈 /i 〉 gene. The 2 patients with deleterious mutations had lower testosterone values at the time of puberty than the patients with possible residual activity of 17β-HSD type 3. One of the latter patients changed to male gender. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 All 4 patients with 17β-HSD type 3 deficiency synthesized relevant amounts ( & #x3e;0.7 µg/L) of testosterone at puberty, which lead to variable androgenisation. In patients with presumable residual activity of the mutated enzyme, testosterone values in the male reference range can be achieved, thereby inducing male pubertal development. These patients should possibly be assigned a male sex. Any surgical intervention should be avoided until the patients are old enough to consider their options of medical and surgical intervention.
    Type of Medium: Online Resource
    ISSN: 1663-2818 , 1663-2826
    URL: Article
    DOI: 10.1159/000453613
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2017
    detail.hit.zdb_id: 2540224-9
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  • 6
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    Administration Safety of Blood Products - Lessons Learned from a National Registry for Transfusion and Hemotherapy Practice
    S. Karger AG ; 2017
    In:  Transfusion Medicine and Hemotherapy Vol. 44, No. 4 ( 2017), p. 240-254
    Details
    In: Transfusion Medicine and Hemotherapy, S. Karger AG, Vol. 44, No. 4 ( 2017), p. 240-254
    Abstract: 〈 b 〉 Background: 〈 /b 〉 Compared to blood component safety, the administration of blood may not be as safe as intended. The German Interdisciplinary Task Force for Clinical Hemotherapy (IAKH) specialized registry for administration errors of blood products was chosen for a detailed analysis of reports. 〈 b 〉 Methods: 〈 /b 〉 Voluntarily submitted critical incident reports (n = 138) from 2009 to 2013 were analyzed. 〈 b 〉 Results: 〈 /b 〉 Incidents occurred in the operation room (34.1%), in the ICU (25.2%), and in the peripheral ward (18.5%). Procedural steps with errors were administration to the patient (27.2%), indication and blood order (17.1%), patient identification (17.1%), and blood sample withdrawal and tube labeling (18.0%). Bedside testing (BST) of blood groups avoided errors in only 2.6%. Associated factors were routine work conditions (66%), communication error (36%), emergency case (26%), night or weekend team (39%), untrained personnel (19%). Recommendations addressed process and quality (n = 479) as well as structure quality (n = 314). In 189 instances, an IT solution would have helped to avoid the error. 〈 b 〉 Conclusions: 〈 /b 〉 The administration process is prone to errors at the patient assessment for the need to transfuse and the application of blood products to patients. BST is only detecting a minority of handling errors. According to the expert recommendations for practice improvement, the potential to improve transfusion safety by a technical solution is considerable.
    Type of Medium: Online Resource
    ISSN: 1660-3796 , 1660-3818
    URL: Article
    DOI: 10.1159/000453320
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2017
    detail.hit.zdb_id: 2100533-3
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  • 7
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    Risk Factors for Failure of Male Slings and Artificial Urinary Sphincters: Results from a Large Middle European Cohort Study
    S. Karger AG ; 2017
    In:  Urologia Internationalis Vol. 99, No. 1 ( 2017), p. 14-21
    Details
    In: Urologia Internationalis, S. Karger AG, Vol. 99, No. 1 ( 2017), p. 14-21
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 We analysed the impact of predefined risk factors: age, diabetes, history of pelvic irradiation, prior surgery for stress urinary incontinence (SUI), prior urethral stricture, additional procedure during SUI surgery, duration of incontinence, ASA-classification and cause for incontinence on failure and complications in male SUI surgery. 〈 b 〉 〈 i 〉 Materials and Methods: 〈 /i 〉 〈 /b 〉 We retrospectively identified 506 patients with an artificial urinary sphincter (AUS) and 513 patients with a male sling (MS) in a multicenter cohort study. Complication rates were correlated to the risk factors in univariate analysis. Subsequently, a multivariate logistic regression adjusted to the risk factors was performed. A p value 〈 0.05 was considered statistically significant. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 A history of pelvic irradiation was an independent risk factor for explantation in AUS (p 〈 0.001) and MS (p = 0.018). Moreover, prior urethral stricture (p = 0.036) and higher ASA-classification (p = 0.039) were positively correlated with explantation in univariate analysis for AUS. Urethral erosion was correlated with prior urethral stricture (p 〈 0.001) and a history of pelvic irradiation (p 〈 0.001) in AUS. Furthermore, infection was correlated with additional procedures during SUI surgery in univariate analysis (p = 0.037) in MS. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 We first identified the correlation of higher ASA-classification and explantation in AUS. Nevertheless, only a few novel risk factors had a significant influence on the failure of MS or AUS.
    Type of Medium: Online Resource
    ISSN: 0042-1138 , 1423-0399
    URL: Article
    DOI: 10.1159/000449232
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2017
    detail.hit.zdb_id: 1464417-4
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  • 8
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    Vimentin-Induced Cardiac Mesenchymal Stem Cells Proliferate in the Acute Ischemic Myocardium
    S. Karger AG ; 2018
    In:  Cells Tissues Organs Vol. 206, No. 1-2 ( 2018), p. 35-45
    Details
    In: Cells Tissues Organs, S. Karger AG, Vol. 206, No. 1-2 ( 2018), p. 35-45
    Abstract: In-depth knowledge of the mechanisms induced by early postischemic cardiac endogenous mesenchymal stem cells (MSCs) in the acutely ischemic heart could advance our understanding of cardiac regeneration. Herein, we aimed to identify, isolate, and initially characterize the origin, kinetics and fate of cardiac MSCs. This was facilitated by in vivo genetic cell fate mapping through green fluorescent protein (GFP) expression under the control of vimentin induction after acute myocardial infarction (MI). Following permanent ligation of the left anterior descending coronary artery in CreER 〈 sup 〉 + 〈 /sup 〉 mTom/mGFP 〈 sup 〉 + 〈 /sup 〉 mice, vimentin/GFP 〈 sup 〉 + 〈 /sup 〉 cells revealed ischemia-responsive activation, survival, and local enrichment inside the peri-infarction border zone. Fluorescence-activated cell sorting (FACS)-isolated vimentin/GFP 〈 sup 〉 + 〈 /sup 〉 cells could be strongly expanded in vitro with clonogenic precursor formation and revealed MSC-typical cell morphology. Flow-cytometric analyses demonstrated an increase in cardiac vimentin/GFP 〈 sup 〉 + 〈 /sup 〉 cells in the ischemic heart, from a 0.6% cardiac mononuclear cell (MNC) fraction at 24 h to 1.6% at 72 h following MI. Sca-1 〈 sup 〉 + 〈 /sup 〉 CD45 〈 sup 〉 – 〈 /sup 〉 cells within the vimentin/GFP 〈 sup 〉 + 〈 /sup 〉 subtype of this MNC fraction increased from 35.2% at 24 h to 74.6% at 72 h after MI. The cardiac postischemic vimentin/GFP 〈 sup 〉 + 〈 /sup 〉 MNC subtype showed multipotent adipogenic, chondrogenic, and osteogenic differentiation potential, which is distinctive for MSCs. In conclusion, we demonstrated a seemingly proliferative first response of vimentin- induced cardiac endogenous MSCs in the acutely ischemic heart. Genetically, GFP-targeted in vivo cell tracking, isolation, and in vitro expansion of this cardiac MSC subtype could help to clarify their reparative status in inflammation, fibrogenesis, cell turnover, tissue homeostasis, and myocardial regeneration.
    Type of Medium: Online Resource
    ISSN: 1422-6405 , 1422-6421
    URL: Article
    DOI: 10.1159/000495527
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1481840-1
    SSG: 12
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  • 9
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    Current Practice of Airway Stenting in the Adult Population in Europe: A Survey of the European Association of Bronchology and Interventional Pulmonology (EABIP)
    S. Karger AG ; 2018
    In:  Respiration Vol. 95, No. 1 ( 2018), p. 44-54
    Details
    In: Respiration, S. Karger AG, Vol. 95, No. 1 ( 2018), p. 44-54
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Airway stenting (AS) commenced in Europe circa 1987 with the first placement of a dedicated silicone airway stent. Subsequently, over the last 3 decades, AS was spread throughout Europe, using different insertion techniques and different types of stents. 〈 b 〉 〈 i 〉 Objectives: 〈 /i 〉 〈 /b 〉 This study is an international survey conducted by the European Association of Bronchology and Interventional Pulmonology (EABIP) focusing on AS practice within 26 European countries. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 A questionnaire was sent to all EABIP National Delegates in February 2015. National delegates were responsible for obtaining precise and objective data regarding the current AS practice in their country. The deadline for data collection was February 2016. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 France, Germany, and the UK are the 3 leading countries in terms of number of centres performing AS. These 3 nations represent the highest ranked nations within Europe in terms of gross national income. Overall, pulmonologists perform AS exclusively in 5 countries and predominately in 12. AS is performed almost exclusively in public hospitals. AS performed under general anaesthesia is the rule for the majority of institutions, and local anaesthesia is an alternative in 9 countries. Rigid bronchoscopy techniques are predominant in 20 countries. Amongst commercially available stents, both Dumon and Ultraflex are by far the most commonly deployed. Finally, 11 countries reported that AS is an economically viable activity, while 10 claimed that it is not. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 This EABIP survey demonstrates that there is significant heterogeneity in AS practice within Europe. Therapeutic bronchoscopy training and economic issues/reimbursement for procedures are likely to be the primary reasons explaining these findings.
    Type of Medium: Online Resource
    ISSN: 0025-7931 , 1423-0356
    URL: Article
    DOI: 10.1159/000480152
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1464419-8
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  • 10
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    The TiLOOP® Male Sling: Did We Forejudge
    S. Karger AG ; 2018
    In:  Urologia Internationalis Vol. 100, No. 2 ( 2018), p. 216-221
    Details
    In: Urologia Internationalis, S. Karger AG, Vol. 100, No. 2 ( 2018), p. 216-221
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 To evaluate the safety and efficacy of the TiLOOP® male sling (pfm medical, Cologne, Germany) used in the treatment for male stress urinary incontinence (SUI). 〈 b 〉 〈 i 〉 Material and Methods: 〈 /i 〉 〈 /b 〉 We retrospectively evaluated a total of 34 patients with a TiLOOP® male sling. Perioperative complication rates were assessed and validated questionnaires were prospectively evaluated to assess quality of life and satisfaction rate. Outcome and complication rates were analysed by using descriptive statistics. Correlation of continence outcome and risk factors was performed with the chi-square test. A 〈 i 〉 p 〈 /i 〉 value below 0.05 was considered statistically significant. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The majority of patients (70.6%) were diagnosed with mild or moderate male SUI. During surgery, one instance (2.9%) of intraoperative urethral injury was observed. There were no immediate postoperative complications. The mean follow-up time was 44.6 months. An improvement of male SUI was reported by 61.9% of the patients and 38.1% reported no change according the Patient Global Impression of Improvement. The mean perineal pain score was 0.5 according to the international index of pain. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 The TiLOOP® is a safe treatment option for male SUI in our cohort with a low complication rate. However, the functional outcome of the TiLOOP® was inferior when compared to the outcome of the AdVance® male sling.
    Type of Medium: Online Resource
    ISSN: 0042-1138 , 1423-0399
    URL: Article
    DOI: 10.1159/000477765
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1464417-4
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