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Becker K.,Cologne Center for Genomics | Becker K.,University of Cologne | Tinschert S.,Innsbruck Medical University | Tinschert S.,TU Dresden | And 18 more authors.
Clinical Genetics | Year: 2015

Dupuytren's disease (DD) is a progressive fibromatosis that causes the formation of nodules and cords in the palmar aponeurosis leading to flexion contracture of affected fingers. The etiopathogenesis is multifactorial with a strong genetic predisposition. It is the most frequent genetic disorder of connective tissues. We have collected clinical data from 736 unrelated individuals with DD who underwent surgical treatment from Germany and Switzerland. We evaluated a standardised questionnaire, assessed the importance of different risk factors and compared subgroups with and without positive family history. We found that family history clearly had the strongest influence on the age at first surgery compared to environmental factors, followed by male sex. Participants with a positive family history were on average 55.9years of age at the first surgical intervention, 5.2years younger than probands without known family history (p=6.7×10-8). The percentage of familial cases decreased with age of onset from 55% in the 40-49 years old to 17% at age 80years or older. Further risk factors analysed were cigarettes, alcohol, diabetes, hypertension, and epilepsy. Our data pinpoint the importance of genetic susceptibility for DD, which has long been underestimated. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


Tas S.,Goethe University Frankfurt | Staub F.,Center for Peripheral Neurosurgery | Dombert T.,Center for Peripheral Neurosurgery | Marquardt G.,Goethe University Frankfurt | And 3 more authors.
Neurosurgical Focus | Year: 2015

Object Carpal tunnel syndrome causes increased cross-sectional area (CSA) of the median nerve, which can be assessed by high-definition ultrasonography. It is unclear today, however, whether high-definition ultrasonography may play a role in the postoperative period. This prospective study aimed to determine the natural history of the morphology of the median nerve at the carpal tunnel after surgical decompression assessed by high-definition ultrasonography. Methods Between October and December 2014, patients with suspected carpal tunnel syndrome who were referred to the authors' center for peripheral neurosurgery were prospectively enrolled and underwent pre- and postoperative (3 months) high-definition ultrasonography, electrophysiology, and clinical testing. Results Eighty-one patients were enrolled in the study, and 100% were clinically better at the 3-month follow-up. The mean CSA decreased from 14.7 ± 4.9 mm2 to 12.4 ± 3.4 mm2 (mean ± SD, p < 0.0001). The mean distal motor latency decreased from 6.6 ± 2.4 msec to 4.8 ± 1.0 msec (mean ± SD, p < 0.0001). Ninety-eight percent of patients who were available for electrodiagnostic follow-up showed an improvement of the distal motor latency; only 80% had a reduction in the CSA. Conclusions The authors present the second-largest series of patients with sonographic follow-up after surgical decompression of the carpal tunnel reported in the literature so far. This study, which showed a decrease in size of the median nerve after surgical decompression, suggests that the preoperative increase in median nerve CSA at the carpal tunnel may be due to compression and that enlargement of the median nerve is (partially) reversible. © AANS, 2015.


Kollmer J.,University of Heidelberg | Baumer P.,University of Heidelberg | Milford D.,University of Heidelberg | Dombert T.,Center for Peripheral Neurosurgery | And 3 more authors.
PLoS ONE | Year: 2012

Objective: To evaluate T2-signal of high-resolution MRI in distal ulnar nerve branches at the wrist as diagnostic sign of guyon's-canal-syndrome (GCS). Materials and Methods: 11 GCS patients confirmed by clinical/electrophysiological findings, and 20 wrists from 11 asymptomatic volunteers were prospectively included to undergo the following protocol: axial T2-weighted-fat-suppressed and T1-weighted-turbo-spin-echo-sequences (3T-MR-scanner, Magnetom/Verio/Siemens). Patients were examined in prone position with the arm extended and wrist placed in an 8-channel surface-array-coil. Nerve T2-signal was evaluated as contrast-to-noise-ratios (CNR) from proximal-to-distal in ulnar nerve trunk, its superficial/sensory and deep/motor branch. Distal motor-nerve-conduction (distal-motor-latency (dml)) to first dorsal-interosseus (IOD I) and abductor digiti minimi muscles was correlated with T2-signal. Approval by the institutional review-board and written informed consent was given by all participants. Results: In GCS, mean nerve T2-signal was strongly increased within the deep/motor branch (11.7±4.8 vs.controls:-5.3±2.4;p = 0.001) but clearly less and not significantly increased in ulnar nerve trunk (6.8±6.4vs.-7.4±2.5;p = 0.07) and superficial/sensory branch (-2.1±4.9vs.-9.7±2.9;p = 0.08). Median nerve T2-signal did not differ between patients and controls (-9.8±2.5vs.-6.7±4.2;p = 0.45). T2-signal of deep/motor branch correlated strongly with motor-conduction-velocity to IOD I in non-linear fashion (R2 = -0.8;p<0.001). ROC-analysis revealed increased nerve T2-signal of the deep/motor branch to be a sign of excellent diagnostic performance (area-under-the-curve 0.94, 95% CI: 0.85-1.00; specificity 90%, sensitivity 89.5%). Conclusions: Nerve T2-signal increase of distal ulnar nerve branches and in particular of the deep/motor branch is highly accurate for the diagnostic determination of GCS. Furthermore, for the first time it was found in nerve entrapment injury that T2-signal strongly correlates with electrical-conduction-velocity. © 2012 Kollmer et al.

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