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  • 1
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    Online Resource
    Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population
    S. Karger AG ; 2018
    In:  Hormone Research in Paediatrics Vol. 89, No. 6 ( 2018), p. 397-407
    Details
    In: Hormone Research in Paediatrics, S. Karger AG, Vol. 89, No. 6 ( 2018), p. 397-407
    Abstract: 〈 b 〉 〈 i 〉 Background/Aims: 〈 /i 〉 〈 /b 〉 A genomic 〈 i 〉 HABP2 〈 /i 〉 variant was proposed to be responsible for familial nonmedullary thyroid carcinoma (FNMTC). However, its involvement has been questioned in subsequent studies. We aimed to identify genetic 〈 i 〉 HABP2 〈 /i 〉 mutations in a series of FNMTC patients and investigate their involvement in the disease. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 〈 i 〉 HABP2 〈 /i 〉 was sequenced from 6 index patients. Presence of the variants was investigated in all members of one family. Somatic 〈 i 〉 BRAF 〈 /i 〉 and 〈 i 〉 RAS 〈 /i 〉 “hotspot” mutations were investigated by the Idylla 〈 sup 〉 TM 〈 /sup 〉 BRAF Mutation Test and/or Sanger sequencing. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Two 〈 i 〉 HABP2 〈 /i 〉 variants ( 〈 i 〉 p.E393Q 〈 /i 〉 and 〈 i 〉 p.G534E 〈 /i 〉 ) were identified in the index patient from one family with papillary thyroid carcinoma (PTC) (follicular variant). The prevalence of 〈 i 〉 p.E393Q 〈 /i 〉 in Spanish control alleles was 0.5% and that of 〈 i 〉 p.G534E 〈 /i 〉 was 5.1%. However, neither change cosegregated with the phenotype in 3 affected members and 5 healthy members of the kindred. Interestingly, all 3 members affected by PTC harbored the 〈 i 〉 p.V600E 〈 /i 〉 somatic mutation in 〈 i 〉 BRAF 〈 /i 〉 . 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 The variant 〈 i 〉 G534E 〈 /i 〉 is prevalent in the Spanish population (5.1%); however, 〈 i 〉 p.E393Q 〈 /i 〉 is rare ( & #x3c; 1%) and none cosegregated with the FNMTC phenotype. The presence of the noninheritable 〈 i 〉 V600E BRAF 〈 /i 〉 mutation in this family supports Knudson’s “double-hit” hypothesis for cancer development and suggests the involvement of more than 1 gene in the clinical expression of FNMTC.
    Type of Medium: Online Resource
    ISSN: 1663-2818 , 1663-2826
    URL: Article
    DOI: 10.1159/000487395
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 2540224-9
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  • 2
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    Online Resource
    Current Clinical Spectrum of Neurosyphilis in Immunocompetent Patients
    S. Karger AG ; 2004
    In:  European Neurology Vol. 52, No. 1 ( 2004), p. 29-35
    Details
    In: European Neurology, S. Karger AG, Vol. 52, No. 1 ( 2004), p. 29-35
    Abstract: 〈 i 〉 Background: 〈 /i 〉 Neurosyphilis (NS) is nowadays a less frequent disease. Its incidence and clinical spectrum have changed over time. 〈 i 〉 Objective: 〈 /i 〉 To estimate the incidence of NS and describe the clinical spectrum of NS in immunocompetent patients in the last decade. 〈 i 〉 Methods: 〈 /i 〉 Demographic and clinical features, cerebrospinal fluid (CSF) changes, neuroimaging findings and outcome were retrospectively analyzed. 〈 i 〉 Results: 〈 /i 〉 Forty-three patients met NS criteria. The yearly incidence was 0.2– 2.1 cases per 100,000 inhabitants. The mean age was 48.1 years, males being more frequently involved. The most frequent clinical patterns were meningovascular (30.2%), meningeal (25.6%) and general paresis (25.6%). Compared to prepenicillin series, we observed a decrease in late forms, mainly tabes dorsalis. CSF titers studied by the Venereal Disease Research Laboratory were higher in early NS. Neuroimaging findings were nonspecific. Outcome was better for early forms. 〈 i 〉 Conclusions: 〈 /i 〉 Compared to the preantibiotic era, a lower frequency of late NS was observed, similar to that reported in other modern series which include patients with HIV infection. Therefore, this trend seems to be due to the impact of antibiotics rather than to HIV infection.
    Type of Medium: Online Resource
    ISSN: 0014-3022 , 1421-9913
    URL: Article
    DOI: 10.1159/000079391
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2004
    detail.hit.zdb_id: 1482237-4
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  • 3
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    Online Resource
    Disappearance of a Thrombus in the Left Atrial Appendage after Treatment with Coumadin: A Two-Dimensional Echocardiographic Study
    S. Karger AG ; 1992
    In:  American Journal of Noninvasive Cardiology Vol. 6, No. 1 ( 1992), p. 66-68
    Details
    In: American Journal of Noninvasive Cardiology, S. Karger AG, Vol. 6, No. 1 ( 1992), p. 66-68
    Type of Medium: Online Resource
    ISSN: 0258-4425 , 2504-2378
    URL: Article
    DOI: 10.1159/000470330
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1992
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  • 4
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    Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry
    S. Karger AG ; 2023
    In:  Hormone Research in Paediatrics
    Details
    In: Hormone Research in Paediatrics, S. Karger AG
    Abstract: Introduction: The objective of this study was to better understand the clinical profiles of children with hypophosphatasia (HPP) prior to treatment with enzyme replacement therapy (ERT). Methods: Pretreatment demographics and medical histories of ERT-treated children (aged & lt;18 years) enrolled in the Global HPP Registry (2015–2020) were analyzed overall, by age at first HPP manifestation ( & lt;6 months vs. 6 months to 18 years), and by geographic region (USA/Canada, Europe, and Japan). Results: Data from 151 children with HPP were analyzed. Sex distribution was balanced overall (52.3% female; 47.7% male) but differed in Japan (63.0% female; 37.0% male). Prior to ERT initiation, common manifestations were skeletal (67.5%) and extraskeletal, with the foremost types being muscular (48.3%), constitutional/metabolic (47.0%), and neurologic (39.7%). A high proportion of children who first presented at & lt;6 months of age (perinatal/infantile period) had a history of bone deformity (59.3%) and respiratory failure (38.3%), while those aged 6 months to 18 years at first manifestation had a predominance of early loss of primary teeth (62.3%) and gross motor delay (41.0%). Those from Japan were reported to have a younger median age overall, the highest proportion of skeletal manifestations (80.4%) and growth impairment, while European data reported the highest proportion of muscular manifestations (70.7%). In the USA/Canada, skeletal and muscular manifestations were reported at the same frequency (57.4%). Conclusion: Prior to ERT, skeletal and extraskeletal manifestations were commonly reported in children with HPP, with differences by age at first HPP manifestation and geographical region. Comprehensive assessments of children with HPP are warranted prior to ERT initiation.
    Type of Medium: Online Resource
    ISSN: 1663-2818 , 1663-2826
    URL: Article
    DOI: 10.1159/000531865
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2023
    detail.hit.zdb_id: 2540224-9
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  • 5
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    Key Areas in the Learning Curve for Robotic Urological Surgery: A Spanish Multicentre Survey
    S. Karger AG ; 2011
    In:  Urologia Internationalis Vol. 87, No. 1 ( 2011), p. 64-69
    Details
    In: Urologia Internationalis, S. Karger AG, Vol. 87, No. 1 ( 2011), p. 64-69
    Abstract: 〈 i 〉 Background: 〈 /i 〉 The number of robotic-assisted procedures offered in Spain is rapidly increasing despite a lack of consensus criteria for training and credentialling. 〈 i 〉 Objective: 〈 /i 〉 This national multicentre study was designed to analyze the different areas of the robotic urological surgery learning curve. 〈 i 〉 Material and Methods: 〈 /i 〉 A questionnaire was sent to all 13 urology units in Spain with an active robotics programme requesting information on training and problems encountered. 〈 i 〉 Results: 〈 /i 〉 In most centres (n = 11, 84.6%), training programmes were animal-based; cadavers were used at only 2 (15.4%). Proctoring in initial procedures was practiced by 12 groups (92.3%). When initiating the robotics programme, the console was shared at 8 units (61.5%). Prior experience in open and/or laparoscopic surgery was reported by 10 of the groups (76.9%), and experience in open surgery only by 2 (15.4%) or robotic surgery alone by 1 (7.7%). The procedure with which the robotics programme was started in all 13 participating units was radical prostatectomy. The number of cases needed to complete the learning curve for this procedure was 20–25 cases according to 8 (61.5%) surgery teams. 〈 i 〉 Conclusions: 〈 /i 〉 Up until March 26, 2010, 1,692 operations, mostly radical prostatectomies, were conducted using the da Vinci robot in our country.
    Type of Medium: Online Resource
    ISSN: 0042-1138 , 1423-0399
    URL: Article
    DOI: 10.1159/000326909
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2011
    detail.hit.zdb_id: 1464417-4
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  • 6
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    Complex Gait Is Related to Cognitive Functioning in Older People: A Cross-Sectional Study Providing an Innovative Test
    S. Karger AG ; 2020
    In:  Gerontology Vol. 66, No. 4 ( 2020), p. 401-408
    Details
    In: Gerontology, S. Karger AG, Vol. 66, No. 4 ( 2020), p. 401-408
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Many studies have demonstrated an inverse relationship between gait performance and cognitive impairment. The main purposes of this study were: (1) to design and validate a complex gait test (CGT) in older people, (2) to analyze the effects of age and sex on CGT, and (3) to analyze the association between CGT performance and physical functioning and cognitive measures. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 A total of 279 older people (60–97 years) were analyzed in 2019. Fitness tests, gait performance, and several cognitive measures such as 〈 i 〉 〈 /i 〉 the Trail-Walking Test and Montreal Cognitive Assessment were used. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The CGT reported adequate reliability and validity parameters. In the test-retest analysis, the intra-class correlation coefficient was 0.868 ( 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001). There was a significant correlation between the CGT and Trail-Walking Test ( 〈 i 〉 r 〈 /i 〉 = 0.592; 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001). The linear regression analysis showed that the CGT was associated with the Montreal Cognitive Assessment ( 〈 i 〉 R 〈 /i 〉 〈 sup 〉 2 〈 /sup 〉 = 0.357; 〈 i 〉 p = 〈 /i 〉 0.001). The binary logistic regression analysis revealed that a high CGT score was a risk factor for mild cognitive impairment (odds ratio 1.201, 95% CI 1.081–1.334; 〈 i 〉 p 〈 /i 〉 = 0.001). The ROC curve of the mild cognitive impairment was predicted by the CGT performance (area under the curve = 0.768, 95% CI 0.647–0.889; 〈 i 〉 p 〈 /i 〉 & #x3c; 0.001), reaching the cut-off point at 20.25 s. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 The CGT showed good reliability and validity and may serve as a potential biomarker in mild cognitive impairment prediction in older adults aged 60–97 years.
    Type of Medium: Online Resource
    ISSN: 0304-324X , 1423-0003
    URL: Article
    DOI: 10.1159/000508245
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 1482689-6
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  • 7
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    Bladder Diverticulum Robotic Surgery: Systematic Review of Case Reports
    S. Karger AG ; 2010
    In:  Urologia Internationalis Vol. 85, No. 4 ( 2010), p. 381-385
    Details
    In: Urologia Internationalis, S. Karger AG, Vol. 85, No. 4 ( 2010), p. 381-385
    Abstract: 〈 i 〉 Introduction: 〈 /i 〉 We report one case of robot-assisted transperitoneal bladder diverticulectomy and perform a systematic review of published experience. 〈 i 〉 Patient and Methods: 〈 /i 〉 Our patient was a 64-year-old male with a history of lower urinary tract symptoms secondary to benign prostatic enlargement for 6 years with recurrent urinary tract infection. Ultrasound and voiding cystourethrogram showed a 7-cm diverticulum in the posterior bladder wall. After bibliographic search in PubMed/Medline, 17 articles on laparoscopic diverticulectomy and 8 on robotic diverticulectomy were selected. 〈 i 〉 Results: 〈 /i 〉 Transperitoneal robot-assisted diverticulectomy was performed with the Da Vinci 4-arm system (Intuitive Surgical Inc., Sunnyvale, Calif., USA) without perioperative complications. Operative time was 80 min and blood loss less than 100 ml. Transurethral prostatic resection combined with Greenlight laser vaporization was performed in a second step. 〈 i 〉 Conclusions: 〈 /i 〉 Robot-assisted bladder diverticulectomy is safe, effective, reproducible and minimally invasive. Cost is higher than for laparoscopic surgery and access to this technology is limited.
    Type of Medium: Online Resource
    ISSN: 0042-1138 , 1423-0399
    URL: Article
    DOI: 10.1159/000319421
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2010
    detail.hit.zdb_id: 1464417-4
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  • 8
    Online Resource
    Online Resource
    Cost of Hospitalizations due to Exacerbation in Patients with Non-Cystic Fibrosis Bronchiectasis
    S. Karger AG ; 2018
    In:  Respiration Vol. 96, No. 5 ( 2018), p. 406-416
    Details
    In: Respiration, S. Karger AG, Vol. 96, No. 5 ( 2018), p. 406-416
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Knowing the cost of hospitalizations for exacerbation in bronchiectasis patients is essential to perform cost-effectiveness studies of treatments that aim to reduce exacerbations in these patients. 〈 b 〉 〈 i 〉 Objectives: 〈 /i 〉 〈 /b 〉 To find out the mean cost of hospitalizations due to exacerbations in bronchiectasis patients, and to identify factors associated with higher costs. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Prospective, observational, multicenter study in adult bronchiectasis patients hospitalized due to exacerbation. All expenses from the patients’ arrival at hospital to their discharge were calculated: diagnostic tests, treatments, transferals, home hospitalization, admission to convalescence centers, and hospitals’ structural costs for each patient (each hospital’s tariff for emergencies and 70% of the price of a bed for each day in a hospital ward). 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 A total of 222 patients (52.7% men, mean age 71.8 years) admitted to 29 hospitals were included. Adding together all the expenses, the mean cost of the hospitalization was EUR 5,284.7, most of which correspond to the hospital ward (86.9%), and particularly to the hospitals’ structural costs. The adjusted multivariate analysis showed that chronic bronchial infection by 〈 i 〉 Pseudomonas aeruginosa 〈 /i 〉 , days spent in the hospital, and completing the treatment with home hospitalization were factors independently associated with a higher overall cost of the hospitalization. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 The mean cost of a hospitalization due to bronchiectasis exacerbation obtained from the individual data of each episode is higher than the cost per process calculated by the health authorities. The most determining factor of a higher cost is chronic bronchial infection due to 〈 i 〉 P. aeruginosa 〈 /i 〉 , which leads to a longer hospital stay and the use of home hospitalization.
    Type of Medium: Online Resource
    ISSN: 0025-7931 , 1423-0356
    URL: Article
    DOI: 10.1159/000489935
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2018
    detail.hit.zdb_id: 1464419-8
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  • 9
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    Online Resource
    Development of Laser-Induced Choroidal Neovascularization in Rats after Retinal Damage by Sodium Iodate Injection
    S. Karger AG ; 2009
    In:  Ophthalmic Research Vol. 42, No. 4 ( 2009), p. 205-212
    Details
    In: Ophthalmic Research, S. Karger AG, Vol. 42, No. 4 ( 2009), p. 205-212
    Abstract: 〈 i 〉 Purpose: 〈 /i 〉 To determine the role of the retinal pigment epithelium (RPE) in the development of laser-induced choroidal neovascularization (CNV) by selective damage with sodium iodate (SI). 〈 i 〉 Methods: 〈 /i 〉 In group 1, diode laser photocoagulation was applied to the right eye of Long-Evans rats (n = 11). In group 2 (n = 11), SI was administered intravenously at a dose of 40 mg/kg of body weight 2 days after photocoagulation. In group 3 (n = 10), SI was injected 2 days before laser was applied. In group 4 (n = 10), SI was injected immediately after photocoagulation. 〈 i 〉 Results: 〈 /i 〉 CNV ingrowth developed in 42 of 93 burns (45%) of the laser group and in 46 of 75 burns (61%) when SI was administered 2 days after laser (p = 0.036). No CNV developed in the other groups. 〈 i 〉 Conclusions: 〈 /i 〉 The angiogenic effect of the RPE is essential during the first hours after the onset of the laser-induced CNV process. When the RPE was damaged before or at the time of photocoagulation, CNV was not induced. These results suggest that RPE integrity is a decisive element in CNV formation.
    Type of Medium: Online Resource
    ISSN: 0030-3747 , 1423-0259
    URL: Article
    DOI: 10.1159/000232946
    RVK:
    XA 10000
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2009
    detail.hit.zdb_id: 1483177-6
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  • 10
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    Online Resource
    Relaxant Effects of the Soluble Guanylate Cyclase Activator and NO Sensitizer YC-1 in Piglet Pulmonary Arteries
    S. Karger AG ; 2006
    In:  Neonatology Vol. 90, No. 1 ( 2006), p. 66-72
    Details
    In: Neonatology, S. Karger AG, Vol. 90, No. 1 ( 2006), p. 66-72
    Abstract: 〈 i 〉 Background: 〈 /i 〉 The indazole derivative YC-1 has been characterized as a nitric oxide (NO)-independent and heme dependent soluble guanylate cyclase (sGC) activator, which also sensitizes sGC to NO. 〈 i 〉 Objective: 〈 /i 〉 To examine the effects of YC-1 on vascular relaxation in newborn and 2-week-old piglet pulmonary arteries. The effect of YC-1 on the relaxation induced by exogenous NO was also analyzed. 〈 i 〉 Methods: 〈 /i 〉 Isolated rings from third branch pulmonary arteries and fifth–seventh-generation intrapulmonary arterioles were mounted in organ chambers for isometric tension recording. Arteries were precontracted with the thromboxane A 〈 sub 〉 2 〈 /sub 〉 mimetic U46619. 〈 i 〉 Results: 〈 /i 〉 YC-1 induced relaxation was greater in 2-week-old pulmonary arteries and was abolished by the sGC inhibitor ODQ (10 µ 〈 i 〉 M 〈 /i 〉 ). YC-1 induced relaxation was similar in conduit pulmonary arteries and arterioles. In the 2-week-old conduit pulmonary arteries, the response to YC-1 was significantly reduced when the endothelium was removed or after incubation with the NO synthase inhibitor L-NAME (0.1 m 〈 i 〉 M 〈 /i 〉 ). YC-1 augmented NO-induced relaxation in 2-week-old but not in neonatal conduit pulmonary arteries. 〈 i 〉 Conclusions: 〈 /i 〉 Our results indicate that YC-1 induced pulmonary vascular relaxation in conduit and resistance pulmonary arteries and these effects increased with postnatal age. In the 2-week-old conduit pulmonary arteries and besides being a direct activator of sGC, YC-1 produced endothelium-dependent relaxation and synergized with exogenous NO.
    Type of Medium: Online Resource
    ISSN: 1661-7800 , 1661-7819
    URL: Article
    DOI: 10.1159/000091968
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2006
    detail.hit.zdb_id: 2403535-X
    SSG: 12
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