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Borggraefe I

Lucia Gerstl, Raphael Weinberger, Ruediger von Kries, Florian Heinen, A Sebastian Schroeder, Michaela V Bonfert, Ingo Borggraefe, Moritz Tacke, Katharina Vill, Mirjam N Landgraf, Karin Kurnik, Martin Olivieri
OBJECTIVE: Acute treatment of childhood arterial ischaemic stroke and prevention strategies for recurrent stroke episodes depend strongly on each child's individual risk profile. The aim of this study is to characterize risk factors for childhood stroke, their occurrence in isolation or combination, and to identify possible common risk factor patterns. METHODS: This population-based study was conducted via ESPED, a surveillance unit for rare paediatric diseases in Germany...
May 2018: European Journal of Paediatric Neurology: EJPN
K Vill, A Blaschek, D Gläser, M Kuhn, T Haack, B Alhaddad, M Wagner, R Kovacs-Nagy, M Tacke, L Gerstl, A S Schroeder, I Borggraefe, C Mueller, B Schlotter-Weigel, B Schoser, M C Walter, W Müller-Felber
BACKGROUND: Early-onset myopathies are a heterogeneous group of neuromuscular diseases with broad clinical, genetic and histopathological overlap. The diagnostic approach has considerably changed since high throughput genetic methods (next generation sequencing, NGS) became available. OBJECTIVE: We present diagnostic subgroups in a single neuromuscular referral center and describe an algorithm for the diagnostic work-up. METHODS: The diagnostic approach of 98 index patients was retrospectively analysed...
2017: Journal of Neuromuscular Diseases
M Tacke, B A Neubauer, L Gerstl, T Roser, J Rémi, I Borggraefe
BACKGROUND: Recent advances in the field of epilepsy genetics have led to an increased fraction of patients with epilepsies where the etiology of the disease could be identified. Nevertheless, there is some criticism regarding the use of epilepsy genetics because in many cases the identification of a pathogenetic mutation does not lead to an adaptation of therapy or to an improved prognosis. In addition, the interpretation of genetic results might be complicated due to the considerable numbers of variants of unclear significance...
December 2017: Der Nervenarzt
C von Stülpnagel, M Ensslen, R S Møller, D K Pal, S Masnada, P Veggiotti, E Piazza, M Dreesmann, T Hartlieb, T Herberhold, E Hughes, M Koch, C Kutzer, K Hoertnagel, J Nitanda, M Pohl, K Rostásy, T B Haack, K Stöhr, G Kluger, I Borggraefe
OBJECTIVE: To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment. METHODS: Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG). Clinical findings including epilepsy classification, treatment, EEG findings, early childhood development and neurodevelopmental outcome were collected with an electronic questionnaire...
May 2017: European Journal of Paediatric Neurology: EJPN
E Haberlandt, M Ensslen, U Gruber-Sedlmayr, B Plecko, M Brunner-Krainz, M Schimmel, S Schubert-Bast, U Neirich, H Philippi, G Kurleman, M Tardieu, G Wohlrab, I Borggraefe, K Rostásy
BACKGROUND: Anti-N-methyl d-aspartate receptor (NMDAR) encephalitis is a rare disorder characterized by seizures, neuropsychiatric symptoms, dyskinesia and autonomic instability. OBJECTIVE: Aim of the present study was to evaluate the seizure phenotypes and electroencephalogram (EEG) features in children with anti-NMDAR encephalitis. METHODS: Seizure types, electroclinical features and clinical characteristics of 17 children with anti-NMDAR encephalitis were analysed in a retrospective case series from nine centres in Europe...
May 2017: European Journal of Paediatric Neurology: EJPN
J Reunert, A S Lotz-Havla, G Polo, F Kannenberg, M Fobker, M Griese, E Mengel, A C Muntau, P Schnabel, O Sommerburg, I Borggraefe, A Dardis, A P Burlina, M A Mall, G Ciana, B Bembi, A B Burlina, T Marquardt
INTRODUCTION: Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC patients show mutations in the NPC1 gene. A much smaller number of patients suffer from NPC2 disease and present respiratory failure as one of the most frequent symptoms. Several plasma oxysterols are highly elevated in NPC1 and can be used as a biomarker in the diagnosis of NPC1. METHODS: Plasma cholestane-3β,5α,6β-triol was evaluated as biomarker for NPC2 by GC/MS and LC-MS/MS analysis...
2015: JIMD Reports
Andreas Sebastian Schroeder, Rüdiger Von Kries, Christina Riedel, Maria Homburg, Helene Auffermann, Astrid Blaschek, Klaus Jahn, Florian Heinen, Ingo Borggraefe, Steffen Berweck
AIM: The aim of the study was to evaluate patient-specific determinants of responsiveness to robot-enhanced repetitive treadmill therapy (ROBERT) in patients with early-developed movement disorders. METHOD: Patients were treated over 12 sessions during a 3-week period. Gross Motor Function Measure-66 (GMFM-66) scores 1 day before ROBERT were compared with scores recorded 1 day after ROBERT. The association of GMFM-66 baseline score, age, sex, aetiology, and add-on botulinum toxin therapy to response to treatment was assessed...
December 2014: Developmental Medicine and Child Neurology
A S Schroeder, M Homburg, B Warken, H Auffermann, I Koerte, S Berweck, K Jahn, F Heinen, I Borggraefe
BACKGROUND: Robot-enhanced therapies are increasingly being used to improve gross motor performance in patients with cerebral palsy. AIM: To evaluate gross motor function, activity and participation in patients with bilateral spastic cerebral palsy (BS-CP) after Robot-enhanced repetitive treadmill therapy (ROBERT) in a prospective, controlled cohort study. METHODS: Participants trained for 30-60 min in each of 12 sessions within a three-week-period...
July 2014: European Journal of Paediatric Neurology: EJPN
Inga Koerte, Paula Pelavin, Berit Kirmess, Teresa Fuchs, Steffen Berweck, Ruediger P Laubender, Ingo Borggraefe, Sebastian Schroeder, Adrian Danek, Claudia Rummeny, Maximilian Reiser, Marek Kubicki, Martha E Shenton, Birgit Ertl-Wagner, Florian Heinen
AIM: In children with bilateral spastic cerebral palsy (CP), periventricular leukomalacia (PVL) is commonly identified on magnetic resonance imaging. We characterized this white matter condition by examining callosal microstructure, interhemispheric inhibitory competence (IIC), and mirror movements. METHOD: We examined seven children (age range 11y 9mo-17y 9mo, median age 15y 10mo, four females, three males) with bilateral spastic CP/PVL (Gross Motor Function Classification System level I or II, Manual Ability Classification System level I) and 12 age-matched controls (age range 11y 7mo-17y 1mo, median age 15y 6mo, seven females, five males)...
February 2011: Developmental Medicine and Child Neurology
A Blaschek, P Lohse, K Huss, I Borggraefe, W Mueller-Felber, F Heinen, R Hohlfeld, T Kümpfel
We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease. Genetic analyses revealed that she inherited a TNFRSF1A R92Q mutation from her mother and a pyrin E230K mutation from her father. To our knowledge, this is the first report of a patient with severe childhood multiple sclerosis and mutations in two genes which predispose to hereditary autoinflammatory disorders. We speculate that these mutations contribute to early multiple sclerosis manifestation and enhance the inflammatory damage inflicted by the autoimmune response...
December 2010: Multiple Sclerosis: Clinical and Laboratory Research
I Borggraefe, L Kiwull, J S Schaefer, I Koerte, A Blaschek, A Meyer-Heim, F Heinen
AIM: The aim of the study was to investigate the sustainability of motor improvements achieved after a three week trial of robotic assisted treadmill therapy in children and adolescents with central gait disorders within a follow up period of about six months. METHODS: Open, non-randomized, baseline-treatment study. Fourteen patients (mean age 8.2+/-5.4) underwent a trial of 12 sessions of robotic-assisted treadmill therapy using the Lokomat over a period of three weeks...
June 2010: European Journal of Physical and Rehabilitation Medicine
Ingo Borggraefe, Jan Simon Schaefer, Mirjam Klaiber, Edward Dabrowski, Corinne Ammann-Reiffer, Beat Knecht, Steffen Berweck, Florian Heinen, Andreas Meyer-Heim
OBJECTIVE: Task-specific body-weight-supported treadmill therapy improves walking performance in children with central gait impairment. The aim of the study was to investigate the effect of robotic-assisted treadmill therapy on standing and walking performance in children and adolescents with cerebral palsy and to determine parameters influencing outcome. METHODS: 20 Patients (mean age 11.0 ± 5.1, 10 males and 10 females) with cerebral palsy underwent 12 sessions of robotic-assisted treadmill therapy using the driven gait orthosis Lokomat...
November 2010: European Journal of Paediatric Neurology: EJPN
Florian Heinen, Kaat Desloovere, A Sebastian Schroeder, Steffen Berweck, Ingo Borggraefe, Anya van Campenhout, Guro L Andersen, Resa Aydin, Jules G Becher, Günther Bernert, Ignacio Martinez Caballero, Lucinda Carr, Emmanuelle Chaleat Valayer, Maria Teresa Desiato, Charlie Fairhurst, Paul Filipetti, Ralph-Ingo Hassink, Ulf Hustedt, Marek Jozwiak, Serdar Ibrahim Kocer, Elisabeth Kolanowski, Ingeborg Krägeloh-Mann, Sehim Kutlay, Helena Mäenpää, Volker Mall, Paul McArthur, Edith Morel, Antigone Papavassiliou, Ignacio Pascual-Pascual, Søren Anker Pedersen, Frank S Plasschaert, Irene van der Ploeg, Olivier Remy-Neris, Anne Renders, Guiseppe Di Rosa, Maja Steinlin, Kristina Tedroff, Joan Vidal Valls, Elke Viehweger, Guy Molenaers
An interdisciplinary European group of clinical experts in the field of movement disorders and experienced Botulinum toxin users has updated the consensus for the use of Botulinum toxin in the treatment of children with cerebral palsy (CP). A problem-orientated approach was used focussing on both published and practice-based evidence. In part I of the consensus the authors have tabulated the supporting evidence to produce a concise but comprehensive information base, pooling data and experience from 36 institutions in 9 European countries which involves more than 10,000 patients and over 45,000 treatment sessions during a period of more than 280 treatment years...
January 2010: European Journal of Paediatric Neurology: EJPN
A Meyer-Heim, C Ammann-Reiffer, A Schmartz, J Schäfer, F H Sennhauser, F Heinen, B Knecht, E Dabrowski, I Borggraefe
OBJECTIVE: To measure functional gait improvements of robotic-assisted locomotion training in children with cerebral palsy (CP). DESIGN: Single-case experimental A-B design. SETTINGS: Rehabilitation Centre Affoltern am Albis, Children's University Hospital Zurich, Switzerland (inpatient group) and Neurology Department of the Dr von Haunersches Children's Hospital Munich, Germany (outpatient group). PARTICIPANTS: 22 children (mean age 8...
August 2009: Archives of Disease in Childhood
I Borggraefe, K Boetzel, J Boehmer, S Berweck, W Mueller-Felber, K Mueller, J H Mehrkens, F Heinen
We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYT1-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. It is known to be refractory to pharmacotherapy. Reports on deep brain stimulation in this condition reveal marked benefits of the treatment in the pediatric and adult populations...
August 2008: Neuropediatrics
Othmar Ludwiczek, Edouard Vannier, Alexander Moschen, Adriana Salazar-Montes, Ingo Borggraefe, Cem Gabay, Barbara Enrich, Arthur Kaser, Britta Siegmund, Charles Dinarello, Herbert Tilg
OBJECTIVE: To assess the production of the endogenous IL-1 modulators IL-1 receptor antagonist (IL-1Ra), type I and II soluble IL-1 receptors (IL-1sRI and II) in patients with chronic liver disease (CLD). MATERIAL AND METHODS: Plasma levels of IL-1beta (IL-1beta) and IL-1 modulators were assessed in 126 CLD patients and 39 healthy controls. IL-1sRII was also measured in the supernatants of primary hepatocyte cultures. RESULTS: Plasma IL-1sRI and IL-1Ra levels were significantly higher in cirrhotic CLD patients than in non-cirrhotic CLD patients and in controls...
2008: Scandinavian Journal of Gastroenterology
C Kamm, H Fischer, B Garavaglia, S Kullmann, M Sharma, C Schrader, K Grundmann, C Klein, I Borggraefe, E Lobsien, A Kupsch, N Nardocci, T Gasser
No abstract text is available yet for this article.
June 3, 2008: Neurology
F Hoffmann, K Reiter, G Kluger, H Holthausen, H P Schwarz, I Borggraefe, W Bonfig
Hashimoto encephalopathy (HE) is a rare steroid-responsive encephalopathy associated with elevated antithyroid antibodies and is a well recognised complication of autoimmune thyroid disease. The clinical picture is pleomorphic, presenting with variable symptoms like coma, seizures, neuropsychiatric changes (impairment of cognitive functions, behavioural and mood disturbances, hallucinations) or focal neurological deficits. HE is mainly diagnosed in adults, but also a rare differential diagnosis of encephalopathy or epilepsy in children...
August 2007: Neuropediatrics
A Meyer-Heim, I Borggraefe, C Ammann-Reiffer, St Berweck, F H Sennhauser, G Colombo, B Knecht, F Heinen
Intensive, task-specific training enabled by a driven gait orthosis (DGO) may be a cost-effective means of improving walking performance in children. A paediatric DGO has recently been developed. This study was the first paediatric trial aimed to determine the feasibility of robotic-assisted treadmill training in children with central gait impairment (n=26; 11 females, 15 males; mean age 10 y 1 mo [SD 4 y]; range 5 y 2 mo-19 y 5 mo). Diagnoses of the study group included cerebral palsy (n=19; Gross Motor Function Classification System Levels I-IV), traumatic brain injury (n=1), Guillain-Barré syndrome (n=2), incomplete paraplegia (n=2), and haemorrhagic shock (n=1), and encephalopathy (n=1)...
December 2007: Developmental Medicine and Child Neurology
O Ludwiczek, E Vannier, I Borggraefe, A Kaser, B Siegmund, C A Dinarello, H Tilg
Interleukin (IL)-1 is a key mediator in the pathogenesis of inflammatory bowel disease (IBD). Naturally occurring IL-1 modulators include IL-1 receptor antagonist (IL-1Ra), IL-1 soluble receptor Type I (IL-1sRI), IL-1sRII and IL-1 receptor accessory protein (AcP). Systemic and mucosal levels of IL-1 soluble receptors remain unknown in IBD. Plasma or colonic tissues were obtained from 185 consecutive unselected patients with Crohn's disease (CD) or ulcerative colitis (UC) and from 52 control subjects. Plasma and colonic explant culture supernatants were assessed for IL-1alpha, IL-1beta, IL-1Ra, IL-1sRI and IL-1sRII...
November 2004: Clinical and Experimental Immunology
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