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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 the...

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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ZusammenfassungDie Dupuytren’sche Kontraktur (DK) oder Morbus Dupuytren ist eine progressive fibroproliferative Erkrankung des palmoplantaren Bindegewebes, bei der es zu einer charakteristischen Knoten- und/oder Strangbildung aus Kollagen kommt. Bei fortschreitender Erkrankung führt die Strangverdickung zu einer Beugekontraktur des betroffenen Fingers, die in einer deutlichen Behinderung der Betroffenen münden kann, insbesondere bei beidseitigem Befall.Die Erkrankung ist in Europa relativ verbreitet, wobei die Prävalenz in nordischen Ländern am höchsten ist. In Österreich geht man von rund 200 000 Betroffenen aus. Die Inzidenz steigt mit zunehmendem Alter, wobei Männer häufiger und früher erkranken als Frauen.Die Ätiologie der DK ist nicht vollständig geklärt, scheint jedoch multifaktoriell zu sein, wobei eine genetische Prädisposition als gesichert gilt. Der natürliche Verlauf der Erkrankung kann zwischen relativ gutartig und massiver Progredienz und Rezidivhäufigkeit variieren. Zumeist findet sich ein schubweiser Verlauf.Die DK ist nicht heilbar; die Behandlungsmethoden reichen von minimalinvasiven bis zu offenen chirurgischen Verfahren. Collagenase Clostridium histolyticum (CCH) ist eine nichtchirurgische, enzymatische Injektionsbehandlung für erwachsene Patienten (≥ 18 Jahre), die in Europa seit 2011 zur Behandlung der DK mit einem tastbaren Strang zugelassen ist. Klinische Studien und praktische Erfahrungen einzelner Zentren bestätigen die Wirksamkeit und Sicherheit der CCH-Behandlung von Beugekontrakturen.Das vorliegende Konsensus Statement wurde unter der Ägide der Österreichischen Gesellschaft für Handchirurgie und der Mitwirkung der Österreichischen Gesellschaften für Unfallchirurgie, Orthopädie und orthopädische Chirurgie sowie für Plastische, Ästhetische und Rekonstruktive Chirurgie erstellt. Es beschreibt die verschiedenen chirurgischen Verfahren unter besonderer Berücksichtigung der Kollagenase-Behandlung und stellt eine Orientierungshilfe für deren Einsatz dar. Das Statement soll nicht nur den Stand des Wissens der DK-Behandlung abbilden, sondern auch als Richtschnur dienen und zu einem einheitlich hohen Qualitätsstandard der Kontraktur-Behandlung in chirurgischen Zentren und spezialisierten Arztpraxen in ganz Österreich beitragen.

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