Publications by authors named "Gerlinde Weigel"

3 Publications

  • Page 1 of 1

[Therapy of Dupuytren's contracture with collagenase - Evidence-based Consensus Statement of Austrian Surgical Societies].

Handchir Mikrochir Plast Chir 2019 Aug 17;51(4):262-274. Epub 2018 Oct 17.

Univ.-Klinik für Plastische, Rekonstruktive und Ästhetische Chirurgie Innsbruck.

Dupuytren's contracture (DC) or Dupuytren's disease (DD) is a progressive fibro-proliferative disease of palmoplantar connective tissue, resulting in characteristic nodal and/or cord formation from collagen disposition. When the disease progresses, the thickening and shortening of the cords eventually leads the affected fingers to being pulled into flexion, which may be associated with marked disability, especially with bilateral disease. DD is relatively common in Europe, with the highest prevalence in Nordic countries. In Austria approx. 200 000 people are affected. The incidence increases with increasing age, with men being more often and earlier affected than women. The aetiology of DC is not completely clear, but it seems to be multifactorial; twin and familial studies confirm a genetic predisposition. The natural course of the disease can vary between relatively benign and massive progression and recurrence. In most cases, there is a fluctuating course. The DC is not curable; treatment methods range from minimally invasive to open surgical procedures. Collagenase Clostridium histolyticum (CCH) is a nonsurgical, enzymatic injection treatment for adult patients (≥ 18 years) with a palpable cord and has been approved in Europe since 2011. Clinical studies and practical experience of individual centres confirm the efficacy and safety of CCH treatment of DC. The present consensus statement was prepared under the auspices of the Austrian Society of Hand Surgery with the participation of the Austrian Society for Trauma Surgery, the Society of Orthopaedics and Orthopaedic Surgery as well as the Society for Plastic, Aesthetic and Reconstructive Surgery. On the basis of current literature and the experts' experience, it describes the various surgical procedures, with particular reference to collagenase treatment and provides guidance for their use. The statement is intended not only to illustrate the state of the art of current treatment, but also to support the achievement of uniform high quality standards in the treatment of DC in surgical centres and specialised medical practices throughout Austria.
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August 2019

The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.

Medicine (Baltimore) 2016 Aug;95(32):e4561

First Medical Department, Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital Paediatric Department, Orthopaedic Hospital of Speising Institute of Medical Chemistry, Medical University of Vienna, Vienna, Austria.

Introduction: A 13-year-old child was clinically diagnosed with mucopolysaccharidosis type VI-Maroteaux-Lamy syndrome (MPS VI) at the age of 5 years, and the diagnosis was confirmed biochemically and genetically (homozygous mutation in ARSB gene). At that time, his older brother manifested with increasing severe mental retardation. His urinary glycosaminoglycan excretion in urine was elevated, but there was only 1 mutation in the ARSB gene defining him as a healthy carrier of MPS VI. The 15-year-old boy was born with dysmorphic facial features, cleft lip and palate, and multiple contractures associated with profound skeletal deformities manifested, severe mental retardation, and seizures, leading to the diagnosis of cerebral palsy from birth on.Clinical and radiographic phenotypic characterization was the baseline tool to document the older sibling, parents, and relatives, all of them examined at the Orthopaedic Hospital of Speising, Vienna, Austria. The family history (from maternal and paternal sides) showed >10 subjects with variable clinical histories of hyperactivity and attention deficit disorder, depression, and a diversity of skeletal abnormalities, such as dysplastic spondylolisthesis, discovertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age).

Methods: Eleven patients in a family with interrelated marriages (two male siblings of 15 and 13-year-old), parents and relatives over three generations were enrolled. One of the siblings was diagnosed with Maroteaux-Lamy syndrome at the age of five-years and mutation of the ARBS gene has been encountered. The older sibling manifested at birth craniofacial abnormalities associated with multiple contracture and seizures. Cerebral palsy was the suggested diagnosis. Clinical and radiographic phenotypes were the baseline tool to document the older sibling, parents and relatives at the orthopaedic Hospital of Speising, Vienna, Austria. These were followed by whole Exome sequencing in three family subjects.

Results: A series of genetic studies in the older sibling showed homozygous mutation in GNS gene compatible with MPS IIID. Both parents are first related and were found to be heterozygous for N-acetylglucosamine-6-sulfatase GNS gene. Family history showed more than 10 subjects with variable clinical presentations such as dysplastic spondylolisthesis, disco-vertebral degeneration, osteopenia, osteophytosis, and progressive degeneration of the weight bearing zones (mostly developed at middle age).

Conclusion: Owing to the multiple systemic involvements, a genetic cause was suspected and a molecular genetic investigation by using whole-exome-sequencing method in 3 family subjects (trios) was performed: the 15-year-old boy and his parents. A homozygous splice-site-mutation in the GNS gene could be found, compatible with mucopolysaccharidosis-Sanfillipo syndrome (type IIID). Both parents are first related and were now found also to be heterozygous for the GNS gene mutation found in their older son. Therefore, both parents are heterozygous carriers for the ARSB gene mutation but also the GNS gene mutation. In the son with MPS VI, no mutation in the GNS gene was found, but the brother with MPS IIID was heterozygous for the ARSB gene mutation.We presume that the intrafamilial variability of clinical signs in different family members could be the result of various mutations in the ARSB/GNS genes in the carriers or potential modulating effects of other genes or differences in genetic backgrounds.
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August 2016

Objective assessment of the fusion frequency in functional electrical stimulation using the fast Fourier transform.

Biomed Tech (Berl) 2007 Aug;52(4):267-73

Medical University of Vienna, Centre for Biomedical Engineering and Physics, Vienna, Austria.

In functional electrical stimulation (FES) the dynamics of tetanic muscle contractions is often described by the fusion frequency (FF), as determined by palpation: contractions elicited by stimulation frequencies above the FF appear smooth. To contribute to a more objective assessment of this important FES parameter, we have developed a dedicated signal analysis method based on fast Fourier transformation (FFT). The ripple to peak ratio (R(rpFFT)) - the relation between ripple amplitude and peak force value of a recorded tetanic muscle force in relation to the applied stimulation frequency - was determined automatically by analysing a 0.2-s interval in the steady state of a stimulation burst. The method was tested on simulated data and on force recordings from isolated tibialis anterior muscles of six rabbits. The results were compared to manual estimates. The robustness of the method was tested by adding noise and hum. Simulated noise at 100% of the ripple force increased R(rpFFT) by 4%. Hum at 20 Hz away from the stimulation frequency caused changes of less than 0.5%. The results of the automated analysis of recorded signals matched the manual estimates sufficiently well, especially for stimulation frequencies near or above FF. R(rpFFT) therefore seems suitable for automated, objective and robust assessment of the ripple and the FF of electrically stimulated muscle.
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August 2007