TY - JOUR A1 - Vogt, Marius A1 - Girschick, Hermann A1 - Schweitzer, Tilmann A1 - Benoit, Clemens A1 - Holl-Wieden, Annette A1 - Seefried, Lothar A1 - Jakob, Franz A1 - Hofmann, Christine T1 - Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children JF - Orphanet Journal of Rare Diseases N2 - Background Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all ages. In children HPP-related musculoskeletal symptoms may mimic rheumatologic conditions and diagnosis is often difficult and delayed. To improve the understanding of HPP in children and in order to shorten the diagnostic time span in the future we studied the natural history of the disease in our large cohort of pediatric patients. This single centre retrospective chart review included longitudinal data from 50 patients with HPP diagnosed and followed at the University Children's Hospital Wuerzburg, Germany over the last 25 years. Results The cohort comprises 4 (8%) perinatal, 17 (34%) infantile and 29 (58%) childhood onset HPP patients. Two patients were deceased at the time of data collection. Diagnosis was based on available characteristic clinical symptoms (in 88%), low alkaline phosphatase (AP) activity (in 96%), accumulating substrates of AP (in 58%) and X-ray findings (in 48%). Genetic analysis was performed in 48 patients (31 compound heterozygous, 15 heterozygous, 2 homozygous mutations per patient), allowing investigations on genotype-phenotype correlations. Based on anamnestic data, median age at first clinical symptoms was 3.5 months (min. 0, max. 107), while median time to diagnosis was 13 months (min. 0, max. 103). Common symptoms included: impairment of motor skills (78%), impairment of mineralization (72%), premature loss of teeth (64%), musculoskeletal pain and craniosynostosis (each 64%) and failure to thrive (62%). Up to now 20 patients started medical treatment with Asfotase alfa. Conclusions Reported findings support the clinical perception of HPP being a chronic multi-systemic disease with often delayed diagnosis. Our natural history information provides detailed insights into the prevalence of different symptoms, which can help to improve and shorten diagnostics and thereby lead to an optimised medical care, especially with promising therapeutic options such as enzyme-replacement-therapy with Asfotase alfa in mind. KW - hypophosphatasia KW - alkaline phosphatase KW - asfotase alfa KW - rare bone disease KW - osteomalacia KW - rickets Y1 - 2020 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-230505 VL - 15 ER - TY - JOUR A1 - Reichel, Thomas A1 - Herz, Stefan A1 - el Tabbakh, Mohammed A1 - Bley, Thorsten Alexander A1 - Plumhoff, Piet A1 - Rueckl, Kilian T1 - Less than 9.5-mm coracohumeral distance on axial magnetic resonance imaging scans predicts for subscapularis tear JF - JSES International N2 - Background Diagnosis of subscapularis (SSC) tendon lesions on magnetic resonance imaging (MRI) can be challenging. A small coracohumeral distance (CHD) has been associated with SSC tears. This study was designed to define a specific threshold value for CHD to predict SSC tears on axial MRI scans. Methods This retrospective study included 172 shoulders of 168 patients who underwent arthroscopic surgery for rotator cuff tear or glenohumeral instability. Diagnostic arthroscopy confirmed an SSC tear in 62 cases (36.0%, test group a), rotator cuff tear tears other than SSC in 71 cases (41.3%, control group b) and glenohumeral instability without any rotator cuff tear in 39 cases (22.7%, zero-sample group c). All patients had a preoperative MRI of the shoulder (1.5T or 3T). Minimum CHD was measured on axial fat-suppressed proton density-, T2-, or T1-weigthed sequences. Receiver operating characteristics analysis was used to determine the threshold value for CHD, and sensitivity and specificity were calculated. Results CHD measurement had a good interobserver reliability (Intraclass correlation coefficient 0.799). Mean CHD was highly significantly (P < .001) less for test group a (mean 7.3 mm, standard deviation ± 2.2) compared with control group b (mean 11.1 mm, standard deviation ± 2.3) or zero-sample group c (mean 13.6 mm, standard deviation ± 2.9). A threshold value of CHD <9.5 mm had a sensitivity of 83.6% and a specificity of 83.9% to predict SSC tears. Conclusion A CHD <9.5 mm on MRI is predictive of SSC lesions and a valuable tool to diagnose SSC tears. KW - subscapularis tear KW - coracohumeral distance KW - rotator cuff tear KW - coracohumeral impingement Y1 - 2021 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-259118 VL - 5 IS - 3 ER - TY - JOUR A1 - Seefried, Lothar A1 - Genest, Franca A1 - Baumann, Jasmin A1 - Heidemeier, Anke A1 - Meffert, Rainer A1 - Jakob, Franz T1 - Efficacy of Zoledronic Acid in the Treatment of Nonmalignant Painful Bone Marrow Lesions: A Triple‐Blind, Randomized, Placebo‐Controlled Phase III Clinical Trial (ZoMARS) JF - Journal of Bone and Mineral Research N2 - Bone marrow lesions (BML) represent areas of deteriorated bone structure and metabolism characterized by pronounced water‐equivalent signaling within the trabecular bone on magnetic resonance imaging (MRI). BML are associated with repair mechanisms subsequent to various clinical conditions associated with inflammatory and non‐inflammatory injury to the bone. There is no approved treatment for this condition. Bisphosphonates are known to improve bone stability in osteoporosis and other bone disorders and have been used off‐label to treat BML. A randomized, triple‐blind, placebo‐controlled phase III trial was conducted to assess efficacy and safety of single‐dose zoledronic acid (ZOL) 5 mg iv with vitamin D 1000 IU/d as opposed to placebo with vitamin D 1000 IU/d in 48 patients (randomized 2:1) with BML. Primary efficacy endpoint was reduction of edema volume 6 weeks after treatment as assessed by MRI. After treatment, mean BML volume decreased by 64.53% (±41.92%) in patients receiving zoledronic acid and increased by 14.43% (±150.46%) in the placebo group (p = 0.007). A decrease in BML volume was observed in 76.5% of patients receiving ZOL and in 50% of the patients receiving placebo. Pain level (visual analogue scale [VAS]) and all categories of the pain disability index (PDI) improved with ZOL versus placebo after 6 weeks but reconciled after 6 additional weeks of follow‐up. Six serious adverse events occurred in 5 patients, none of which were classified as related to the study drug. No cases of osteonecrosis or fractures occurred. Therefore, single‐dose zoledronic acid 5 mg iv together with vitamin D may enhance resolution of bone marrow lesions over 6 weeks along with reduction of pain compared with vitamin D supplementation only. KW - bone biology KW - osteoporosis KW - bone marrow lesion/edema KW - bisphosphonates KW - zoledronic acid Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-276368 VL - 37 IS - 3 SP - 420 EP - 427 ER - TY - JOUR A1 - Heinz, Tizian A1 - Meller, Felix A1 - Luetkens, Karsten Sebastian A1 - Horas, Konstantin A1 - Schäfer, Thomas A1 - Rudert, Maximilian A1 - Reppenhagen, Stephan A1 - Weißenberger, Manuel T1 - Can the MRI based AMADEUS score accurately assess pre-surgery chondral defect severity according to the ICRS arthroscopic classification system? JF - Journal of Experimental Orthopaedics N2 - Purpose The AMADEUS (Area Measurement And DEpth and Underlying Structures) scoring and grading system has been proposed for the MRI based evaluation of untreated focal chondral defects around the knee. The clinical practicability, its correlation with arthroscopically assessed grading systems (ICRS – International Cartilage Repair Society) and thereby its clinical value in terms of decision making and guiding prognosis was yet to determine. Methods From 2008 to 2019 a total of 89 individuals were indicated for high tibial valgus osteotomy (HTO) due to tibial varus deformity and concomitant chondral defects of the medial compartment of the knee. All patients received a preoperative MRI (1.5 Tesla or 3.0 Tesla) and pre-osteotomy diagnostic arthroscopy. Chondral defects of the medial compartment were scored and graded with the MRI based AMADEUS by three independent raters and compared to arthroscopic defect grading by the ICRS system. Interrater and intrarater reliability as well as correlation analysis with the ICRS classification system were assessed. Results Intraclass correlation coefficients for the various subscores of the AMADEUS showed an overall good to excellent interrater agreement (min: 0.26, max: 0.80). Intrarater agreement turned out to be substantially inferior (min: 0.08, max: 0.53). Spearman correlation revealed an overall moderate correlative association of the AMADEUS subscores with the ICRS classification system, apart from the defect area subscore. Sensitivity of the AMADEUS to accurately identify defect severity according to the ICRS was 0.7 (0.69 for 3.0 Tesla MRI, 0.67 for 1.5 Tesla MRI). The mean AMADEUS grade was 2.60 ± 0.81 and the mean ICRS score 2.90 ± 0.63. Conclusions Overall, the AMADEUS with all its subscores shows moderate correlation with the arthroscopic chondral grading system according to ICRS. This suggests that chondral defect grading by means of the MRI based AMADEUS is well capable of influencing and guiding treatment decisions. Interrater reliability shows overall good agreement. KW - MRI KW - knee KW - cartilage defect KW - grading system of chondral defects KW - AMADEUS KW - ICRS Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-300781 SN - 2197-1153 VL - 9 IS - 1 ER - TY - JOUR A1 - Kippnich, Maximilian A1 - Duempert, Maximilian A1 - Schorscher, Nora A1 - Jordan, Martin C. A1 - Kunz, Andreas S. A1 - Meybohm, Patrick A1 - Wurmb, Thomas T1 - Simultaneous treatment of trauma patients in a dual room trauma suite with integrated movable sliding gantry CT system: an observational study JF - Scientific Reports N2 - The trauma center of the University Hospital Wuerzburg has developed an advanced trauma pathway based on a dual-room trauma suite with an integrated movable sliding gantry CT-system. This enables simultaneous CT-diagnostics and treatment of two trauma patients. The focus of this study was to investigate the quality of the concept based on defined outcome criteria in this specific setting (time from arrival to initiation of CT scan: tCT; time from arrival to initiation of emergency surgery: tES). We analyzed all trauma patients admitted to the hospital’s trauma suite from 1st May 2019 through 29th April 2020. Two subgroups were defined: trauma patients, who were treated without a second trauma patient present (group 1) and patients, who were treated simultaneously with another trauma patient (group 2). Simultaneous treatment was defined as parallel arrival within a period of 20 min. Of 423 included trauma patients, 46 patients (10.9%) were treated simultaneously. Car accidents were the predominant trauma mechanism in this group (19.6% vs. 47.8%, p < 0.05). Prehospital life-saving procedures were performed with comparable frequency in both groups (intubation 43.5% vs. 39%, p = 0.572); pleural drainage 3.2% vs. 2.2%, p = 0.708; cardiopulmonary resuscitation 5% vs. 2.2%, p = 0.387). At hospital admission, patients in group 2 suffered significantly more pain (E-problem according to Advanced Trauma Life Support principles©; 29.2% vs. 45.7%, p < 0.05). There were no significant differences in the clinical treatment (emergency procedures, vasopressor and coagulant therapy, and transfusion of red blood cells). tCT was 6 (4–10) minutes (median and IQR) in group 1 and 8 (5–15.5) minutes in group 2 (p = 0.280). tES was 90 (78–106) minutes in group 1 and 99 (97–108) minutes in group 2 (p = 0.081). The simultaneous treatment of two trauma patients in a dual-room trauma suite with an integrated movable sliding gantry CT-system requires a medical, organizational, and technical concept adapted to this special setting. Despite the oftentimes serious and life-threatening injuries, optimal diagnostic and therapeutic procedures can be guaranteed for two simultaneous trauma patients at an individual medical level in consistent quality. KW - dual-room trauma suite KW - movable sliding gantry KW - CT Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-299695 VL - 12 IS - 1 ER - TY - JOUR A1 - Heinz, Tizian A1 - Meller, Felix A1 - Luetkens, Karsten Sebastian A1 - Anderson, Philip Mark A1 - Stratos, Ioannis A1 - Horas, Konstantin A1 - Rudert, Maximilian A1 - Reppenhagen, Stephan A1 - Weißenberger, Manuel T1 - The AMADEUS score is not a sufficient predictor for functional outcome after high tibial osteotomy JF - Journal of Experimental Orthopaedics N2 - Purpose The Area Measurement And Depth Underlying Structures (AMADEUS) classification system has been proposed as a valuable tool for magnetic resonance (MR)-based grading of preoperatively encountered chondral defects of the knee joint. However, the potential relationship of this novel score with clinical data was yet to determine. It was the primary intention of this study to assess the correlative relationship of the AMADEUS with patient reported outcome scores in patients undergoing medial open-wedge high tibial valgus osteotomy (HTO). Furthermore, the arthroscopic ICRS (International Cartilage Repair Society) grade evaluation was tested for correlation with the AMADEUS classification system. Methods This retrospective, monocentric study found a total of 70 individuals that were indicated for HTO due to degenerative chondral defects of the medial compartment between 2008 and 2019. A preoperative MR image as well as a pre-osteotomy diagnostic arthroscopy for ICRS grade evaluation was mandatory for all patients. The Knee Osteoarthritis Outcome Score (KOOS) including its five subscale scores (KOOS-ADL, KOOS-QOL, KOOS-Sports, KOOS-Pain, KOOS-Symptoms) was obtained preoperatively and at a mean follow-up of 41.2 ± 26.3 months. Preoperative chondral defects were evaluated using the AMADEUS classification system and the final AMADEUS scores were correlated with the pre- and postoperative KOOS subscale sores. Furthermore, arthroscopic ICRS defect severity was correlated with the AMADEUS classification system. Results There was a statistically significant correlation between the AMADEUS BME (bone marrow edema) subscore and the KOOS Symptoms subscore at the preoperative visit (r = 0.25, p = 0.04). No statistically significant monotonic association between the AMADEUS total score and the AMADEUS grade with pre- and postoperative KOOS subscale scores were found. Intraoperatively obtained ICRS grade did reveal a moderate correlative relation with the AMADEUS total score and the AMADEUS grade (r = 0.28, p = 0.02). Conclusions The novel AMADEUS classification system largely lacks correlative capacity with patient reported outcome measures in patients undergoing HTO. The MR tomographic appearance of bone marrow edema is the only parameter predictive of the clinical outcome at the preoperative visit. KW - cartilage KW - AMADEUS KW - KOOS KW - knee KW - high tibial osteotomy KW - chondral defect KW - osteoarthritis KW - PROM KW - correlation Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-357765 VL - 10 ER - TY - JOUR A1 - Luetkens, Karsten Sebastian A1 - Grunz, Jan-Peter A1 - Kunz, Andreas Steven A1 - Huflage, Henner A1 - Weißenberger, Manuel A1 - Hartung, Viktor A1 - Patzer, Theresa Sophie A1 - Gruschwitz, Philipp A1 - Ergün, Süleyman A1 - Bley, Thorsten Alexander A1 - Feldle, Philipp T1 - Ultra-high-resolution photon-counting detector CT arthrography of the ankle: a feasibility study JF - Diagnostics N2 - This study was designed to investigate the image quality of ultra-high-resolution ankle arthrography employing a photon-counting detector CT. Bilateral arthrograms were acquired in four cadaveric specimens with full-dose (10 mGy) and low-dose (3 mGy) scan protocols. Three convolution kernels with different spatial frequencies were utilized for image reconstruction (ρ\(_{50}\); Br98: 39.0, Br84: 22.6, Br76: 16.5 lp/cm). Seven radiologists subjectively assessed the image quality regarding the depiction of bone, hyaline cartilage, and ligaments. An additional quantitative assessment comprised the measurement of noise and the computation of contrast-to-noise ratios (CNR). While an optimal depiction of bone tissue was achieved with the ultra-sharp Br98 kernel (S ≤ 0.043), the visualization of cartilage improved with lower modulation transfer functions at each dose level (p ≤ 0.014). The interrater reliability ranged from good to excellent for all assessed tissues (intraclass correlation coefficient ≥ 0.805). The noise levels in subcutaneous fat decreased with reduced spatial frequency (p < 0.001). Notably, the low-dose Br76 matched the CNR of the full-dose Br84 (p 0.999) and superseded Br98 (p < 0.001) in all tissues. Based on the reported results, a photon-counting detector CT arthrography of the ankle with an ultra-high-resolution collimation offers stellar image quality and tissue assessability, improving the evaluation of miniscule anatomical structures. While bone depiction was superior in combination with an ultra-sharp convolution kernel, soft tissue evaluation benefited from employing a lower spatial frequency. KW - photon-counting CT KW - arthrography KW - ankle KW - cartilage KW - radiation dosage Y1 - 2023 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-362622 SN - 2075-4418 VL - 13 IS - 13 ER -