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  • 1
    In: International Archives of Allergy and Immunology, S. Karger AG, Vol. 152, No. 4 ( 2010), p. 390-400
    Abstract: 〈 i 〉 Background: 〈 /i 〉 Primary immunodeficiencies represent the ‘molecular Achilles’ heels’ of human immunity. Detailed analyses of primary immunodeficiencies extend our knowledge of pivotal immunological processes, lead to novel diagnostic algorithms and shorten the time to diagnosis. 〈 i 〉 Methods: 〈 /i 〉 Clinical/immunological phenotypes of 2 unrelated patients from Austria with combined immunodeficiency were determined. Leukocyte subpopulations of these patients, their parents and healthy controls were analyzed by flow cytometry. Patient-derived Epstein-Barr virus (EBV)-transformed B cell lines were established and complemented by candidate cDNAs. Suspected mutations were confirmed by DNA sequencing. 〈 i 〉 Results: 〈 /i 〉 Phenotyping revealed a lack of constitutive human leukocyte antigen (HLA) class II expression on antigen-presenting cells of both patients, compatible with MHC class II deficiency. Rapid vector-based complementation analysis of the patients’ B cells identified HLA class II transactivator (CIITA) deficiency in patient VIP1 and regulatory factor X (RFX)AP deficiency in patient VIP2. CIITA deficiency was caused by a homozygous p.Glu381X mutation. RFXAP deficiency resulted from a homozygous p.Ser123ThrfsX15 mutation, not described in the Middle European population so far. Of note, HLA class II-associated invariant chain (Ii) expression levels were significantly reduced in VIP1 and 3 additional EBV-transformed B cell lines of CIITA-deficient patients but normal in EBV-transformed B cells from VIP2. In addition, peripheral blood B cells from the parents of VIP1 showed significantly reduced HLA-DR and -DP expression levels compared to healthy controls. 〈 i 〉 Conclusions: 〈 /i 〉 Analysis of patients’ intracellular Ii and their parents’ surface HLA class II expression levels might help to identify CIITA-deficient patients already during initial phenotyping.
    Type of Medium: Online Resource
    ISSN: 1018-2438 , 1423-0097
    RVK:
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2010
    detail.hit.zdb_id: 1482722-0
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  • 2
    In: Annals of Nutrition and Metabolism, S. Karger AG, Vol. 76, No. 4 ( 2020), p. 251-258
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Only few data on dietary management of adult phenylketonuria (PKU) patients are published. 〈 b 〉 〈 i 〉 Objectives: 〈 /i 〉 〈 /b 〉 This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to an online survey, containing 91 questions on sociodemographic data, dietary habits, and health conditions. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 144/183 patients (66% females) completed the questionnaire. Compared with German population, the proportion of single-person households was higher (22 vs. 47%), the rate of childbirth was lower (1.34 vs. 0.4%), but educational and professional status did not differ. 82% of the patients adhered to a low-protein diet, 45% consumed modified low-protein food almost daily, and 84% took amino acid mixtures regularly. 48% of the patients never interrupted diet, and 14% stopped diet permanently. 69% of the patients reported to feel better with diet, and 91% considered their quality of life at least as good. The prevalence of depressive symptoms was high (29%) and correlated significantly to phenylalanine blood concentrations ( 〈 i 〉 p 〈 /i 〉 = 0.046). However, depressive symptoms were only mild in the majority of patients. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 This group of early-treated adult German PKU patients is socially well integrated, reveals a surprisingly high adherence to diet and amino acid intake, and considers the restrictions of diet to their daily life as low.
    Type of Medium: Online Resource
    ISSN: 0250-6807 , 1421-9697
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 1481977-6
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  • 3
    In: Cerebrovascular Diseases, S. Karger AG, Vol. 48, No. 1-2 ( 2019), p. 91-95
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 General anaesthesia (GA) during mechanical thrombectomy (MT) might lead to an inferior clinical outcome compared to conscious sedation (CS). It was hypothesised that using CS might avoid a critical drop in cerebral perfusion, shorten the time of the intervention and therefore might result in better clinical outcome. In this study, we compared the procedural and clinical results of patients who underwent MT under GA or CS at two tertiary neuro-vascular centres on the basis of a matched-pair analysis. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Using a matched-pair approach, we compared the data of 56 patients that were treated under CS at centre A ( 〈 i 〉 n 〈 /i 〉 = 28) with selected patients who were treated under GA at the centre B ( 〈 i 〉 n 〈 /i 〉 = 28). Patients were matched for age, sex, site of vessel occlusion, NIHSS at admission (±3 points), time from symptom onset to initial stroke imaging, intravenous-lysis and co-morbidities. All patients had an ASPECT-score of ≥8. To exclude the effect of technical failures, only patients with successful recanalization of the occluded vessel (TICI 2b and 3) were included into the study. The primary endpoint was the proportion of patients with early good clinical outcome after MT, defined by a modified Ranking Scale (mRS)-score ≤2 at discharge. Secondary endpoints were the time from symptom onset to the start of the procedure, the duration of the procedure and the rate of procedural complications. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 There were no differences concerning gender, age, the site of vessel occlusion and the degree of stroke severity at baseline. The proportion of patients with an early good clinical outcome (mRS ≤2 at discharge) was 60.4% (17/28) in both groups. The time from symptom onset to the start of the procedure was shorter at centre B, while the duration of the procedure was significantly faster at A, resulting in an overall time from symptom onset to complete recanalization of 152.2 ± 68.0 min for patients treated at centre A and 171.1 ± 43.5 min for patients at centre B (ns). 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Our study revealed no differences in the investigated clinical outcome for patients undergoing endovascular stroke treatment under GA versus CS.
    Type of Medium: Online Resource
    ISSN: 1015-9770 , 1421-9786
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2019
    detail.hit.zdb_id: 1482069-9
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  • 4
    In: Cerebrovascular Diseases, S. Karger AG, Vol. 49, No. 3 ( 2020), p. 334-340
    Abstract: 〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Rural, remote, and Indigenous stroke patients have worse stroke outcomes than urban Australians. This may be due to lack of timely access to expert facilities. 〈 b 〉 〈 i 〉 Objectives: 〈 /i 〉 〈 /b 〉 We aimed to describe the characteristics of patients who underwent aeromedical retrieval for stroke, estimate transfer times, and investigate if flight paths corresponded with the locations of stroke units (SUs) throughout Australia. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Prospective review of routinely collected Royal Flying Doctor Service (RFDS) data. Patients who underwent an RFDS aeromedical retrieval for stroke, July 2014–June 2018 (ICD-10 codes: I60–I69), were included. To define the locations of SUs throughout Australia, we accessed data from the 2017 National Stroke Audit. The main outcome measures included determining the characteristics of patients with an in-flight diagnosis of stroke, their subsequent pickup and transfer locations, and corresponding SU and imaging capacity. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The RFDS conducted 1,773 stroke aeromedical retrievals, consisting of 1,028 (58%) male and 1,481 (83.5%) non-Indigenous and 292 (16.5%) Indigenous patients. Indigenous patients were a decade younger, 56.0 (interquartile range [IQR] 45.0–64.0), than non-Indigenous patients, 66.0 (IQR 54.0–76.0). The most common diagnosis was “stroke not specified,” reflecting retrieval locations without imaging capability. The estimated median time for aeromedical retrieval was 238 min (95% confidence interval: 231–244). Patients were more likely to be transferred to an area with SU and imaging capability (both 〈 i 〉 p 〈 /i 〉 & #x3c; 0.0001). 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 Stroke patients living in rural areas were younger than those living in major cities (75 years, Stroke Audit Data), with aeromedically retrieved Indigenous patients being a decade younger than non-Indigenous patients. The current transfer times are largely outside the time windows for reperfusion methods. Future research should aim to facilitate more timely diagnosis and treatment of stroke.
    Type of Medium: Online Resource
    ISSN: 1015-9770 , 1421-9786
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 1482069-9
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  • 5
    Online Resource
    Online Resource
    S. Karger AG ; 2004
    In:  European Neurology Vol. 51, No. 4 ( 2004), p. 241-243
    In: European Neurology, S. Karger AG, Vol. 51, No. 4 ( 2004), p. 241-243
    Type of Medium: Online Resource
    ISSN: 0014-3022 , 1421-9913
    RVK:
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2004
    detail.hit.zdb_id: 1482237-4
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  • 6
    Online Resource
    Online Resource
    S. Karger AG ; 1999
    In:  Pathophysiology of Haemostasis and Thrombosis Vol. 29, No. 4 ( 1999), p. 225-228
    In: Pathophysiology of Haemostasis and Thrombosis, S. Karger AG, Vol. 29, No. 4 ( 1999), p. 225-228
    Abstract: A mutation of Tyr→Cys at position 280 of the γ chain of fibrinogen was recently determined to be the cause for fibrinogen Banks peninsula. A novel polymerase chain reaction/restriction digestion assay for this mutation was developed and used for the screening of 300 apparently healthy European blood donors. None of these subjects carried the mutation.
    Type of Medium: Online Resource
    ISSN: 1424-8832 , 1424-8840
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1999
    detail.hit.zdb_id: 2081182-2
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  • 7
    In: Transfusion Medicine and Hemotherapy, S. Karger AG, Vol. 47, No. 4 ( 2020), p. 314-325
    Abstract: 〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 Platelet concentrates play an important role in transfusion medicine. Their short lifespan and lack of robustness require efforts to ensure adequate product quality. In this study, we compared the in vitro quality of the main concentrate types, pooled platelet concentrate (PPC) from whole blood donations, and platelet concentrate from single-donor apheresis (APC). 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 Twenty PPCs and 20 APCs prepared in plasma were analyzed on days 2, 4, and 7 of storage. Variables related to metabolism, degranulation, platelet aggregation, P-selectin expression, and annexin V binding were analyzed. Morphology was assessed by transmission electron microscopy of ultrathin sections. A microfluidic device was applied to test the effects of shear stress on platelet function. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The metabolic parameters indicated stable storage conditions throughout the 7-day period. The resting discoid form was the prevailing morphology on days 2 and 4 in the PPCs and APCs. Chemokine release and receptor shedding of soluble P-selectin and soluble CD40L equally increased in PPCs and APCs. Aggregation responses to ADP and collagen were heterogeneous, with marked losses in collagen responsiveness on day 4 in individual concentrates. Baseline expression of P-selectin in PPCs and APCs was low, and inducibility of P-selectin was well preserved until day 4. Under shear stress, equal adhesiveness and stability were found with platelets from PPCs and APCs. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 Platelets from PPCs and APCs showed similar in vitro function and stability parameters. However, platelet concentrates presented a high variability and individual concentrates an impaired functional capability. Identifying the factors contributing to this would help increase product reliability.
    Type of Medium: Online Resource
    ISSN: 1660-3796 , 1660-3818
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2020
    detail.hit.zdb_id: 2100533-3
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  • 8
    In: Kidney and Blood Pressure Research, S. Karger AG, Vol. 32, No. 6 ( 2009), p. 428-433
    Abstract: 〈 i 〉 Background: 〈 /i 〉 Chronic kidney disease (CKD) is characterized by increased cerebrovascular risk. Retinal vessel analysis (RVA) is an accepted measure of the retinal microvasculature, mirrors hypertension and cardiovascular morbidity. Epidemiological studies demonstrate narrower retinal arterioles with declining renal function. The effect of CKD on the retinal microcirculation remains uncertain. 〈 i 〉 Methods: 〈 /i 〉 RVA was performed in 34 non-diabetic CKD patients and 33 age-matched volunteers with normal renal function. Retinal photographs were digitized, vascular lumen diameters measured and the ratio of retinal arteriolar and venular lumen diameters (AVR) calculated. Office blood pressure (BP) was measured and cardiovascular risk factors assessed. 〈 i 〉 Results: 〈 /i 〉 AVR was lower in CKD patients as compared to age-matched volunteers (0.77 ± 0.05 vs. 0.86 ± 0.06; p 〈 0.05). In particular, retinal arterioles were narrower in CKD patients as compared to volunteers (169.6 ± 20.4 vs. 189.5 ± 14.2 µm; p 〈 0.01). In CKD, estimated glomerular filtration rate, BP and renin-angiotensin system blocker independently predicted AVR. Moreover, retinal arteriolar diameter independently predicted renal function (β = 0.33; p 〈 0.05). 〈 i 〉 Conclusion: 〈 /i 〉 CKD narrowed retinal arterioles suggesting an extended effect of CKD on the cerebral microvasculature. This study shows that in CKD patients, renal function, BP status and renin-angiotensin system blockade independently predict AVR as a marker for microvascular damage and that retinal microvasculature can predict renal function.
    Type of Medium: Online Resource
    ISSN: 1420-4096 , 1423-0143
    Language: English
    Publisher: S. Karger AG
    Publication Date: 2009
    detail.hit.zdb_id: 1482922-8
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  • 9
    In: European Neurology, S. Karger AG, Vol. 37, No. 4 ( 1997), p. 236-238
    Type of Medium: Online Resource
    ISSN: 0014-3022 , 1421-9913
    RVK:
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1997
    detail.hit.zdb_id: 1482237-4
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  • 10
    Online Resource
    Online Resource
    S. Karger AG ; 1997
    In:  Psychotherapy and Psychosomatics Vol. 66, No. 5 ( 1997), p. 252-257
    In: Psychotherapy and Psychosomatics, S. Karger AG, Vol. 66, No. 5 ( 1997), p. 252-257
    Type of Medium: Online Resource
    ISSN: 1423-0348 , 0033-3190
    RVK:
    RVK:
    Language: English
    Publisher: S. Karger AG
    Publication Date: 1997
    detail.hit.zdb_id: 1472321-9
    SSG: 5,2
    SSG: 15,3
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