Universitatskinderklinik Munster

Bad Münster am Stein-Ebernburg, Germany

Universitatskinderklinik Munster

Bad Münster am Stein-Ebernburg, Germany
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Giese A.,Ruhr University Bochum | Ornek A.,Berufsgenossenschaftliches Universitatsklinikum Bergmannsheil | Kurucay M.,Ruhr University Bochum | Kilic L.,Hacettepe University | And 7 more authors.
Schmerz | Year: 2013

Background. Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by bouts of fever and serositis. Morbidity caused by bouts as well as self-medication were assessed among patients of Turkish ancestry living in Germany (D) or Turkey (T) in order to evaluate current analgetic concepts from a patient's perspective.Material and methods. D and T were asked about the 3 months preceding the interview.Results. A total of 40 D and 40 T were included; 35/40 D and 40/40 T were on colchicine. In the last 3 months, 61.3% had =1 bout and suffered from peritonitis (87.8%), fever (61.2%), myalgia (45%), pleuritis (42.8%), arthralgia (36.7%), and cephalgia (32.6%). Of the patients, 65.3% were bedridden during bouts, 61.2% sought the attention of a physician, 53.1% were unable to work or attend school, and 38.8% were hospitalized. The following drugs were taken: NSAIDs (45.6%), NSAIDs and paracetamol (42.6%), and combinations of NSAIDs with other analgesics. NSAIDs (58.6%) and paracetamol (20.7%) were considered the most potent substances.Conclusion. FMF inflicts substantial morbidity. Patients most commonly rely on NSAIDs and paracetamol to relieve symptoms of FMF bouts. © Deutsche Schmerzgesellschaft e.V. Published by Springer-Verlag Berlin Heidelberg - all rights reserved 2013.


Grunert S.C.,University Hospital Freiburg | Mullerleile S.,University Hospital Freiburg | De Silva L.,University Hospital Freiburg | Barth M.,University Hospital Freiburg | And 26 more authors.
Journal of Inherited Metabolic Disease | Year: 2012

Background Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse. Study design Twenty PA patients diagnosed through NBS were compared to 35 patients diagnosed by selectivemetabolic screening (SMS) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of patients from 16metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively. Additionally, assessment of the intelligent quotient (IQ) was performed. In a second step, the number of PA patients who have died within the past 20 years was estimated based on information provided by the participating metabolic centers. © SSIEM and Springer 2011.


Lotte J.,Neuropadiatrie | Bast T.,Korg | Borusiak P.,Witten/Herdecke University | Coppola A.,University College London | And 29 more authors.
Seizure | Year: 2016

Purpose PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Methods We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years). Results The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year. Significance The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered. © 2016 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.


Waldhauser F.,Medical University of Vienna | Harms E.,Universitatskinderklinik Munster | Damm L.,Medical University of Vienna | Kerbl R.,Abteilung fur Kinder und Jugendheilkunde
Monatsschrift fur Kinderheilkunde | Year: 2010

Since the start of their speciality paediatricians have been aware of the interdependence between the organisation of the health system and the results of their work. Consequently, they have attempted to have an impact on the health system, albeit in varying ways historically and nationally. In Anglo-Saxon countries, driven mainly by the lack of general health insurance or severe failings in child health care, "child advocacy" was developed as a specific paediatric discipline and has been introduced in medical schools and the paediatric curriculum. Traditionally, child health issues in Germany are primarily promoted on political committees by delegates of paediatric societies. In Austria, due to gaps in general health insurance for children and suboptimal results in performance indicators, a movement of paediatricians, therapists and patient group representatives developed under the name"Politische Kindermedizin" (political paediatrics). It is comparable in its intentions to "child advocacy". One explicit aim of the group is the public discussion of child health issues in order to secure children their fair share of the health budget and to guarantee them optimal medical treatment. © Springer-Verlag 2009.


Horneff G.,Zentrum fur Allgemeine Padiatrie und Neonatologie | Hospach T.,Olgahospital Stuttgart | Dannecker G.,Olgahospital Stuttgart | Foll D.,Universitatskinderklinik Munster | And 8 more authors.
Monatsschrift fur Kinderheilkunde | Year: 2010

Tumor necrosis factor α (TNF) inhibitors and other biologics have substantially extended the therapeutic options for juvenile idiopathic arthritis (JIA). The efficacy of etanercept and adalimumab has been proven in randomized, placebo-controlled clinical trials, while their long-term safety is being monitored in ongoing studies. In August 2009, the U.S. Food and Drug Administration reported on 48 malignancies in children and adolescents treated with infliximab, etanercept or adalimumab, raising questions about an increased cancer risk. Lymphomas formed the largest group (24 of 48) of the different cancer types. The indication for use of TNF inhibitors needs to be made very carefully and take risk factors into consideration. This is particularly necessary in the case of non-approved indications, non-approved substances and for the combination of TNF inhibitors with conventional immunosuppressive agents. On the other hand, this therapy should not be withheld from any JIA patient fulfilling the necessary criteria. Adequate patient and family information, thorough long-term follow-up as well as strict treatment documentation in the registry of the German Society of Pediatric and Adolescent Rheumatology (GKJR) are strongly recommended. © Springer-Verlag 2009.


Kraus J.P.,University of Colorado at Denver | Spector E.,University of Colorado at Denver | Spector E.,Aurora University | Venezia S.,University of Colorado at Denver | And 36 more authors.
Journal of Inherited Metabolic Disease | Year: 2012

Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprised of 96 independent alleles. These patients of various ethnic backgrounds came from research centers and hospitals in Germany, Austria and Switzerland. The thorough clinical characterization of these patients was described in the accompanying paper (Grünert et al. 2012). In all 54 patients, many of whom originated from consanguineous families, the entire PCCB gene was examined by genomic DNA sequencing and in 39 individuals the PCCA gene was also studied. In three patients we found mutations in both PCC genes. In addition, in many patients RT-PCR analysis of lymphoblast RNA, lymphoblast enzyme assays, and expression of new mutations in E.coli were carried out. Eight new and eight previously detected mutations were identified in the PCCA gene while 15 new and 13 previously detected mutations were found in the PCCB gene. One missense mutation, p.V288I in the PCCB gene, when expressed in E.coli, yielded 134% of control activity and was consequently classified as a polymorphism in the coding region. Numerous new intronic polymorphisms in both PCC genes were identified. This study adds a considerable amount of new molecular data to the studies of this disease. © SSIEM and Springer 2011.


Heiligenhaus A.,St Franziskus Hospital | Michels H.,Society for Childhood and Adolescent Rheumatology | Schumacher C.,St Franziskus Hospital | Kopp I.,Working Group of the Scientific Medical Specialty Societies | And 20 more authors.
Rheumatology International | Year: 2012

Uveitis in juvenile idiopathic arthritis (JIA) is frequently associated with the development of complications and visual loss. Topical corticosteroids are the firstchoice therapy, and immunosuppression is commonly used. However, treatment has not been standardized. Representatives from the German Ophthalmological Society, Society for Childhood and Adolescent Rheumatology, and the German Society for Rheumatology reached consensus on a standardized treatment strategy according to disease severity in the individual patient. The recommendations were based on a systematic literature analysis in MEDLINE and consensus expert meetings. Evidence and recommendations were graded, and an algorithm for antiinflammatory treatment and final statements confirmed in a Delphi method. An interdisciplinary, evidence-based treatment guideline for JIA uveitis is presented. © 2011 Springer-Verlag.


Grunert S.C.,University Hospital Freiburg | Mullerleile S.,University Hospital Freiburg | De Silva L.,University Hospital Freiburg | Barth M.,University Hospital Freiburg | And 29 more authors.
Orphanet Journal of Rare Diseases | Year: 2013

Background: Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. Study design/methods. Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed. Results: The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls. Conclusion: Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results. © 2013 Grünert et al.; licensee BioMed Central Ltd.


PubMed | Neuropadiatrische Schwerpunktpraxis, Neuropadiatrie, Kinderklinik, Witten/Herdecke University and 19 more.
Type: | Journal: Seizure | Year: 2016

PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations.We report a retrospective multicenter study of antiepileptic therapy in 58 female patients with PCDH19 mutations and epilepsy aged 2-27 years (mean age 10.6 years).The most effective drugs after 3 months were clobazam and bromide, with a responder rate of 68% and 67%, respectively, where response was defined as seizure reduction of at least 50%. Defining long-term response as the proportion of responders after 12 months of treatment with a given drug in relation to the number of patients treated for at least 3 months, the most effective drugs after 12 months were again bromide and clobazam, with a long-term response of 50% and 43%, respectively. Seventy-four percent of the patients became seizure-free for at least 3 months, 47% for at least one year.The most effective drugs in patients with PCDH19 mutations were bromide and clobazam. Although epilepsy in PCDH19 mutations is often pharmacoresistant, three quarters of the patients became seizure-free for at least for 3 months and half of them for at least one year. However, assessing the effectiveness of the drugs is difficult because a possible age-dependent spontaneous seizure remission must be considered.

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