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Hoffmann B.,Heinrich Heine University Dusseldorf | Dragano N.,University of Duisburg - Essen | Schweitzer-Krantz S.,Evangelisches Krankenhaus Dusseldorf
Journal of Inherited Metabolic Disease | Year: 2012

Background: Galactose-1-phosphate uridyltransferase deficicency is well known as the underlying defect in classic galactosemia. However, little is known about the consequences of this defect beyond physical disease. Aim: To evaluate psychosocial, educational and occupational outcome as well as health-related quality of life (HRQOL) in adult German patients with galactosemia and to compare information with data from patients with phenylketonuria as well as the general German population. Methods: Members of the German patient support group for galactosemia received invitation, informed consent form and questionnaires by regular mail from the patient support group. Participation was voluntary. Results: Forty-one out of 66 invited patients participated in this study. Nearly 2/3 of the patients were singles, and the majority of patients were still living with their parents. Frequently, patients had no school leaving certificate, and 30% of the patients had never started or never completed an apprenticeship. Getting along with galactosemia was rated as 'very good' or 'good' although following the diet was a burden. Social well-being and social functioning was lower compared to patients with PKU. Discussion: Patients with galactosemia need a multi-professional team not only focusing on physical and/or biochemical aspects of disease but including also psycho-social dimensions of life. © 2012 SSIEM and Springer.

Meining A.,TU Munich | Spaun G.,Krankenhaus der Barmherzigen Schwestern Linz | Fernandez-Esparrach G.,Institute Of Malalties Digestives I Metaboliques | Arezzo A.,University of Turin | And 8 more authors.
Endoscopy | Year: 2013

The sixth EURO-NOTES workshop (4 - 6 October 2012, Prague, Czech Republic) focused on enabling intensive scientific dialogue and interaction between surgeons, gastroenterologists, and engineers/industry representatives and discussion of the state of the practice and development of natural orifice transluminal endoscopic surgery (NOTES) in Europe. In accordance with previous meetings, five working groups were formed. In 2012, emphasis was put on specific indications for NOTES and interventional endoscopy. Each group was assigned an important indication related to ongoing research in NOTES and interventional endoscopy: cholecystectomy and appendectomy, therapy of colorectal diseases, therapy of adenocarcinoma and neoplasia in the upper gastrointestinal tract, treating obesity, and new therapeutic approaches for achalasia. This review summarizes consensus statements of the working groups. © Georg Thieme Verlag KG Stuttgart ·New York.

Werner S.G.,Charite - Medical University of Berlin | Werner S.G.,RHIO Research Institute | Langer H.-E.,RHIO Research Institute | Schott P.,Evangelisches Krankenhaus Dusseldorf | And 7 more authors.
Arthritis and Rheumatism | Year: 2013

Objective: Indocyanine green-enhanced fluorescence optical imaging (FOI) is a novel diagnostic tool for the assessment of inflammation in arthritis. We undertook this study to compare FOI with magnetic resonance imaging (MRI) in 32 patients with early and very early untreated arthritis (mean disease duration 7.1 months). Methods: FOI images were acquired with the commercially available Xiralite system. Image interpretation was done for an early phase (phase 1), an intermediate phase (phase 2), and a late phase (phase 3), and for an electronically generated composite image. The results were compared with those of clinical examination (960 joints) and contrast (gadolinium)-enhanced 1.5T MRI (382 joints) of the clinically more affected hand. Additionally, we evaluated FOI in a control group of 46 subjects without any signs of inflammatory joint disease (1,380 joints). Results: With MRI as the reference method, the sensitivity of FOI was 86% and the specificity was 63%, while the composite image, phase 1, and phase 3 reached high specificities (87%, 90%, and 88%, respectively). The results differed considerably between the composite image and the phases. FOI did not detect inflammation in 11 joint regions that showed palmar tenosynovitis on MRI. Intrareader and interreader agreements were moderate to substantial (κ = 0.55-0.73). In the control group, FOI showed positive findings in 5% of normal joints in phase 2. Conclusion: Further multicenter studies will address the question of whether FOI allows sensitive and reliable detection of inflammatory changes in early arthritis, as suggested by our initial findings. If this is confirmed, FOI has the potential to be a sensitive and valuable tool for monitoring disease activity on site in clinical settings and for serving as an outcome parameter in clinical trials. © 2013, American College of Rheumatology.

Terheggen G.,Evangelisches Krankenhaus Dusseldorf | Neuhaus H.,Evangelisches Krankenhaus Dusseldorf
Gastroenterology Clinics of North America | Year: 2010

In the evaluation of biliary diseases, cholangioscopy is considered as complementary procedure to radiographic imaging. Direct visualization of the bile duct is the premier advantage of cholangioscopy over indirect imaging techniques. However, cholangioscopy has not gained wide acceptance because of several technical limitations such as scope fragility, impaired steerability, limited irrigation, and suction capabilities, as well as the need for two experienced endoscopists. Recent innovations such as the implementation of electronic video cholangioscopes and the development of single-operator systems facilitate the procedure, and promise to increase the diagnostic and therapeutic yield of cholangioscopy. © 2010 Elsevier Inc.

Hoffmann B.,Heinrich Heine University Dusseldorf | Wendel U.,Heinrich Heine University Dusseldorf | Schweitzer-Krantz S.,Evangelisches Krankenhaus Dusseldorf
Journal of Inherited Metabolic Disease | Year: 2011

Background: Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ. Objective: To evaluate speech and cognitive performance in patients with galactosemia. Methods: Speech performance was evaluated by means of the Hierarchische Wortlisten, a German word-repetition test for the diagnosis of apraxia of speech, using real words and pseudo-words. Cognitive performance was evaluated by use of age-appropriate German versions of the Wechsler Scales. Results: In a cohort of 32 patients (12 females, 20 males; mean age 21.2±7.2 years) with classic galactosemia, the mean IQ was 76.2±14.8. Eighty-four percent of the patients passed the speech test with errors. Speech errors were much more related to pseudo-words than real words and were predominantly observed in words with three and four syllables. The performance in producing words was correlated to the IQ scores. Conclusion: Impairment of speech affects a significant number of patients with galactosemia, appears in early childhood, and persists into adulthood. The pattern of speech impairment may allow labeling as apraxia of speech. In many cases impaired speech is related to decreased IQ. © 2011 SSIEM and Springer.

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