@article{SeefriedDahirPetryketal.2020,
  author    = {Seefried, Lothar and Dahir, Kathryn and Petryk, Anna and H{\"o}gler, Wolfgang and Linglart, Agn{\`e}s and Martos-Moreno, Gabriel {\´A}ngel and Ozono, Keiichi and Fang, Shona and Rockman-Greenberg, Cheryl and Kishnani, Priya S},
  title     = {Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry},
  series = {Journal of Bone and Mineral Research},
  volume    = {35},
  journal   = {Journal of Bone and Mineral Research},
  number    = {11},
  doi       = {10.1002/jbmr.4130},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-217787},
  pages     = {2171 -- 2178},
  year      = {2020},
  abstract  = {Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by deficient tissue non-specific alkaline phosphatase activity. This study aims to assess patient-reported pain, disability and health-related quality of life (HRQoL) in a real-world cohort of adults with HPP who were not receiving asfotase alfa during the analysis. Adults (≥18 years old) with HPP (confirmed by ALPL gene mutation and/or low serum alkaline phosphatase activity for age/sex) were identified from the Global HPP Registry (NCT02306720). Demographics, clinical characteristics, and data on patient-reported pain, disability, and HRQoL (assessed by Brief Pain Inventory Short Form [BPI-SF], Health Assessment Questionnaire Disability Index [HAQ-DI], and 36-Item Short-Form Health Survey version 2 [SF-36v2], respectively) were stratified by pediatric- and adult-onset HPP and summarized descriptively. Of the 304 adults included (median [min, max] age 48.6 [18.8, 79.8] years; 74\% women), 45\% had adult-onset HPP and 33\% had pediatric-onset HPP (unknown age of onset, 22\%). Of those with data, 38\% had experienced ≥5 HPP manifestations and 62\% had a history of ≥1 fracture/pseudofracture. Median (Q1, Q3) BPI-SF scores were 3.5 (1.5, 5.3) for pain severity and 3.3 (0.9, 6.2) for pain interference. Median (Q1, Q3) disability on the HAQ-DI was 0.3 (0.0, 0.7). Median (Q1, Q3) physical and mental component summary scores on the SF-36v2 were 42.4 (32.7, 49.9) and 45.3 (36.3, 54.8), respectively. Greater numbers of HPP manifestations experienced/body systems affected correlated significantly with poorer scores on the BPI-SF, HAQ-DI, and SF-36v2 (all p < 0.05). No significant differences between adults with pediatric- and adult-onset HPP were observed for patient-reported outcomes, except for disability and the BPI-SF question "pain at its worst," which were significantly higher among adults with pediatric- versus adult-onset HPP (p = 0.03 and 0.04, respectively). These data from the Global HPP Registry show that adults with HPP have a substantial burden of illness that is associated with reduced patient-reported HRQoL, regardless of age of disease onset.},
  language  = {en}
}
@article{SchmidLoisMetzetal.2022,
  author    = {Schmid, Andrea and Lois, Anna-Maria and Metz, Corona and Grunz, Jan-Peter and Veldhoen, Simon},
  title     = {Not all that looks fractured is broken - multipartite humeral epicondyles in children},
  series = {European Radiology},
  volume    = {32},
  journal   = {European Radiology},
  number    = {8},
  doi       = {10.1007/s00330-022-08670-1},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-324987},
  pages     = {5045-5052},
  year      = {2022},
  abstract  = {Objective Multipartite epicondyles may mimic fractures in the setting of pediatric elbow trauma. This study examines the prevalence of multipartite epicondyles during skeletal development and their association with pediatric elbow fractures. Materials and methods In this retrospective analysis, 4282 elbow radiographs of 1265 elbows of 1210 patients aged 0-17 years were reviewed. The radiographs were analyzed by two radiologists in consensus reading, and the number of visible portions of the medial and lateral epicondyles was noted. For elbows in which epicondylar ossification was not yet visible, the epicondyles were already fused with the humerus or could not be sufficiently evaluated due to projection issues or because osteosynthesis material was excluded. In total, 187 elbows were included for the lateral and 715 for the medial epicondyle analyses. Results No multipartite medial epicondyles were found in patients without history of elbow fracture, whereas 9\% of these patients had multipartite lateral epicondyles (p < 0.01). Current or previous elbow fractures increased the prevalence of multipartite epicondyles, with significant lateral predominance (medial epicondyle + 9\% vs. lateral + 24\%, p < 0.0001). Including all patients regardless of a history of elbow fracture, multipartite medial epicondyles were observed in 3\% and multipartite lateral epicondyles in 18\% (p < 0.0001). There was no gender difference in the prevalence of multipartition of either epicondyle, regardless of a trauma history. Conclusion Multipartite medial epicondyles occur in patients with current or previous elbow fractures only, whereas multipartite lateral epicondyles may be constitutional. Elbow fractures increase the prevalence of multipartite epicondyles on both sides, with significant lateral predominance. Key Points • Multipartite medial epicondyles should be considered of traumatic origin. • Multipartite lateral epicondyles may be constitutional. • Elbow fractures increase the prevalence of multipartite epicondyles on both sides with lateral predominance.},
  language  = {en}
}