@article{JordanBittrichFehskeetal.2017, author = {Jordan, Martin C. and Bittrich, Leonie A. and Fehske, Kai and Meffert, Rainer H. and Jansen, Hendrik}, title = {A rare case of Hoffa fracture combined with lateral patellar dislocation}, series = {Trauma Case Reports}, volume = {9}, journal = {Trauma Case Reports}, doi = {10.1016/j.tcr.2017.05.001}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-158315}, pages = {13-16}, year = {2017}, abstract = {The coronal unicondylar fracture of the distal femur (AO 33-B3) is a rare intraarticular injury within the weight bearing area of the knee, initially described by Albert Hoffa in 1904. We report an unusual combination of a Hoffa fracture with lateral patellar dislocation in a young adult. Our patient sustained the injury by a sudden twist of his leg during sports. He presented clinically with knee swelling, dislocation of the patella, and localized tenderness; unable to bare weight. After plane radiograph confirmed the injury, manual reduction of the patella was done by hyperextension of the knee and medialward pressure. Afterwards, a CT scan and MRI were conducted. The injury was surgically treated with lag-screws, locking-plate and MPFL-reconstruction.}, language = {en} } @article{JordanJaeckleScheidtetal.2020, author = {Jordan, Martin C. and J{\"a}ckle, Veronika and Scheidt, Sebastian and Eden, Lars and Gilbert, Fabian and Heintel, Timo M. and Jansen, Hendrik and Meffert, Rainer H.}, title = {Ergebnisse nach Plattenstabilisierung der Symphysensprengung}, series = {Der Unfallchirurg}, volume = {123}, journal = {Der Unfallchirurg}, issn = {0177-5537}, doi = {10.1007/s00113-020-00804-8}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-232447}, pages = {870-878}, year = {2020}, abstract = {Hintergrund Die Symphysensprengung mit entsprechender Diastase kann durch eine Symphysenplatte stabilisiert werden. Fragestellung Welche Beckenverletzungen werden mit einer Symphysenplatte stabilisiert und wie ist das Outcome? Material und Methoden Retrospektive Auswertung von 64 Patienten {\"u}ber einen Untersuchungszeitraum von 24 Monaten. Ergebnisse Es waren 56 Patienten m{\"a}nnlich, 8 weiblich und das mittlere Alter betrug 44 Jahre (SD ± 17). Unf{\"a}lle im Straßenverkehr waren der f{\"u}hrende Grund f{\"u}r die Beckenverletzung. Die Verteilung nach AO-Klassifikation zeigte sich wie folgt: 14-mal B1-, 10-mal B2-, 5‑mal B3-, 23-mal C1-, 9‑mal C2- und 3‑mal C3-Verletzungen. Die Verteilung nach Young und Burgess ergab: 9‑mal APC-I-, 18-mal APC-II-, 13-mal APC-III-, 9‑mal LC-I-, 3‑mal LC-II-, 2‑mal LC-III- und 10-mal VS-Verletzungen. Der mittlere Injury Severity Score (ISS) betrug 32 und die mittlere station{\"a}re Verweildauer 29 Tage (pos. Korrelation p ≤ 0,001). Im Verlauf war eine radiologische Implantatlockerung bei 52 Patienten nachweisbar. Therapierelevante Komplikationen gab es in 14 F{\"a}llen. Hierbei war das Implantatversagen (n = 8) der Hauptgrund f{\"u}r eine operative Revision. Diskussion Obwohl die radiologische Implantatlockerung h{\"a}ufig beobachtet wird, ist sie nur selten Grund f{\"u}r einen Revisionseingriff. Kommt es hingegen zum vollst{\"a}ndigen Implantatversagen, tritt dies meist innerhalb der ersten postoperativen Wochen auf und ist revisionsbed{\"u}rftig. Eine fr{\"u}hzeitige Abkl{\"a}rung durch R{\"o}ntgenbildgebung sollte bei Verdacht erfolgen.}, language = {de} } @article{WestburyTurroGreeneetal.2015, author = {Westbury, Sarah K and Turro, Ernest and Greene, Daniel and Lentaigne, Claire and Kelly, Anne M and Bariana, Tadbir K and Simeoni, Ilenia and Pillois, Xavier and Attwood, Antony and Austin, Steve and Jansen, Sjoert BG and Bakchoul, Tamam and Crisp-Hihn, Abi and Erber, Wendy N and Favier, R{\´e}mi and Foad, Nicola and Gattens, Michael and Jolley, Jennifer D and Liesner, Ri and Meacham, Stuart and Millar, Carolyn M and Nurden, Alan T and Peerlinck, Kathelijne and Perry, David J and Poudel, Pawan and Schulman, Sol and Schulze, Harald and Stephens, Jonathan C and Furie, Bruce and Robinson, Peter N and van Geet, Chris and Rendon, Augusto and Gomez, Keith and Laffan, Michael A and Lambert, Michele P and Nurden, Paquita and Ouwehand, Willem H and Richardson, Sylvia and Mumford, Andrew D and Freson, Kathleen}, title = {Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders}, series = {Genome Medicine}, volume = {7}, journal = {Genome Medicine}, number = {36}, doi = {10.1186/s13073-015-0151-5}, url = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-143329}, year = {2015}, abstract = {Background: Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenotyping of cases. Methods: We report a new approach in which the clinical and laboratory characteristics of BPD cases are annotated with adapted Human Phenotype Ontology (HPO) terms. Cluster analyses are then used to characterise groups of cases with similar HPO terms and variants in the same genes. Results: We show that 60\% of index cases with heritable BPD enrolled at 10 European or US centres were annotated with HPO terms indicating abnormalities in organ systems other than blood or blood-forming tissues, particularly the nervous system. Cases within pedigrees clustered closely together on the bases of their HPO-coded phenotypes, as did cases sharing several clinically suspected syndromic disorders. Cases subsequently found to harbour variants in ACTN1 also clustered closely, even though diagnosis of this recently described disorder was not possible using only the clinical and laboratory data available to the enrolling clinician. Conclusions: These findings validate our novel HPO-based phenotype clustering methodology for known BPD, thus providing a new discovery tool for BPD of unknown genetic basis. This approach will also be relevant for other rare diseases with significant genetic heterogeneity.}, language = {en} }