Bettina Fuisting

University Medical Center Hamburg - Eppendorf, Hamburg, Hamburg, Germany

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Publications (4)5.03 Total impact

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    ABSTRACT: Marfan syndrome is a heritable connective tissue disease. Definitive diagnosis is complex, and requires sequencing of a large gene, FBN1. We aimed to develop a simple model to estimate the pre-test probability of Marfan syndrome. Prospective cross-sectional study. We applied diagnostic standards for definitive diagnosis or exclusion of Marfan syndrome in 329 consecutive persons. In 208 persons with random assignment to our derivation group, we performed multivariate logistic regression to assess 14 clinical variables for inclusion in a prediction model with derivation of score points from the estimated coefficients. We created cut-offs to classify low, moderate and high probability of Marfan syndrome. For validation, we applied the model to the remaining 121 persons. We identified seven variables for inclusion in the final model, where we assigned four score points to ectopia lentis, two points to a family history of Marfan syndrome, and one point to previous thoracic aortic surgery, to pectus excavatum, to a wrist and thumb sign, to previous pneumothorax, and to skin striae. In the derivation group 12, 42 and 92% of persons with low (≤1 point), moderate (>1-3.5 points) or high pre-test probability (>3.5 points) had Marfan syndrome, compared to 12, 57 and 91%, respectively, in the validation group. Positive likelihood ratios were 13.96 and 8.54 in the high probability group of the derivation and validation group, respectively. A simple prediction model provides evidence for Marfan syndrome. This model can be used to identify patients who require definitive diagnostic work-up.
    QJM: monthly journal of the Association of Physicians 02/2012; 105(6):527-35. · 2.46 Impact Factor
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    ABSTRACT: The Marfan syndrome is a typical rare disease with multiorgan involvement and the need for specialized interdisciplinary medical care. A novel German legal directive according to section sign 116 b of the Social Statutes Book V (116 b SGB V) improves options for reimbursement and thus encourages specialized hospitals to provide ambulatory care for rare diseases such as Marfan syndrome. The authors provide the first economic analysis of section sign 116 b in a German Marfan center. The costs were assessed in 184 cases with Marfan syndrome receiving medical care in the Hamburg Marfan Clinic. The authors assessed the financial profit both according to payments received from invoices established according to the 116 b directive [reimbursement (116b)] and from calculations according to section sign 117 SGB V [reimbursement (117)]. A total of 117 patients traveled to the Marfan clinic (64%) < 50 km, 27 patients (15%) between >or= 50 and <or= 100 km, and 40 patients (22%) > 100 km. The total costs for ambulatory care were 71,606.28 Euro. The reimbursement (116b) was 55,549.87 Euro and the reimbursement (117) was 11,776.00 Euro. Many patients accept long distances of traveling to receive specialized ambulatory medical care. However, for optimal patient management specialized centers need to cooperate intensively with local health care providers. The novel legal directive according to section sign 116 b has significantly improved reimbursement for Marfan centers and allows for improving the quality of medical care.
    Medizinische Klinik 08/2010; 105(8):529-37. · 0.27 Impact Factor
  • Bettina Fuisting, Gisbert Richard
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    ABSTRACT: Transpupillary thermotherapy (TTT) is a non-invasive treatment option for malignant choroidal melanoma and choroidal neovascularization (CNV) in age-related macular degeneration (ARMD). It can be considered as a cost-saving treatment, preventing surgical intervention. Up to now the energy level for TTT in CNV has not been clearly defined. Therefore over-treatment (inducing a retinal scar) as well as undertreatment (persistence of CNV) is possible. This may be the main cause for not using TTT as a preferred treatment for wet ARMD. Over the last 2 years the use of TTT for CNV has experienced a slight revival. In some studies a sub-threshold or low-dose TTT has been applied alone or in combination with intravitreal triamcinolone acetonide (iVTA) or vascular endothelial growth factor (VEGF) inhibitors. In several studies TTT for the treatment of malignant choroidal melanoma has been shown to be safe as a unique treatment for small choroidal tumors or as an adjuvant treatment for larger choroidal tumors (‘sandwich technique’).
    Medical Laser Application 01/2010; 25(4):214-222.
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    ABSTRACT: The diagnosis of Marfan syndrome (MFS) is based on evaluating a large number of clinical criteria. We have observed that many persons presenting in specialized centers for "Marfan-like" features do not have MFS, but exhibit a large spectrum of other syndromes. The spectrum of these syndromes and the distribution of "Marfan-like" features remain to be characterized. Thus, we prospectively evaluated 279 consecutive patients with suspected MFS (144 men and 135 women at a mean age of 34+/-13 years) for presence of 27 clinical criteria considered characteristic of MFS. The most frequent reasons to refer individuals for suspected MFS were skeletal features (31%), a family history of MFS, or aortic complications (29%), aortic dissection or aneurysm (19%), and eye manifestations (9%). Using established criteria, we confirmed MFS in 138 individuals (group 1) and diagnosed other connective tissue diseases, both with vascular involvement in 30 (group 2) and without vascular involvement in 39 (group 3), and excluded any distinct disease in 72 individuals (group 4). Clinical manifestations of MFS were present in all four patient groups and there was no single clinical criterion that exhibited positive and negative likelihood ratios that were per se sufficient to confirm or rule out MFS. We conclude that "Marfan-like" features are not exclusively indicative of MFS but also of numerous, alternative inherited diseases with many of them carrying a hitherto poorly defined cardiovascular risk. These alternative diseases require future study to characterize their responses to therapy and long-term prognosis.
    American Journal of Medical Genetics Part A 12/2008; 146A(24):3157-66. · 2.30 Impact Factor