GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    Physical Function and Health‐Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric‐Onset Hypophosphatasia
    Wiley ; 2020
    In:  JBMR Plus Vol. 4, No. 9 ( 2020-09)
    Details
    In: JBMR Plus, Wiley, Vol. 4, No. 9 ( 2020-09)
    Abstract: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease characterized by tissue‐nonspecific alkaline phosphatase deficiency resulting in musculoskeletal and systemic clinical manifestations. This observational study evaluated the effectiveness of enzyme replacement therapy with asfotase alfa on physical function and health‐related quality of life (HRQoL) among adults with pediatric‐onset HPP who received asfotase alfa for 12 months at a single center ( ClinicalTrial.gov no.: NCT03418389). Primary outcomes evaluated physical function with the 6‐minute walk test (6MWT), timed up‐and‐go (TUG) test, Short Physical Performance Battery (SPPB), and handheld dynamometry (HHD). Secondary outcome measures included the Lower Extremity Functional Scale (LEFS), pain prevalence/intensity, and pain medication use; HRQoL was evaluated using the 36‐Item Short‐Form Health Survey version 2 (SF‐36v2). Safety data were collected throughout the study. All 14 patients (11 women) had compound heterozygous ALPL gene mutations and ≥1 HPP bone manifestation, including history of ≥1 fracture. Mean (min, max) age was 51 (19 to 78) years. From baseline to 12 months of treatment, median 6MWT distance increased from 267 m to 320 m ( n = 13; p = 0.023); median TUG test time improved from 14.4 s to 11.3 s ( n = 9; p = 0.008). Specific components of the SPPB also improved significantly: median 4‐m gait speed increased from 0.8 m/s to 1.1 m/s ( n = 10; p = 0.007) and median repeated chair‐rise time improved from 22 s to 13 s ( n = 9; p = 0.008). LEFS score improved from 24 points to 53 points ( n = 10; p = 0.002). Improvements in HHD were not clinically significant. SF‐36v2 Physical Component Score (PCS) improved after 12 months of treatment ( n = 9; p = 0.010). Pain level did not change significantly from baseline to 12 months of treatment. There were significant improvements on chair‐rise time and SF‐36v2 PCS by 3 months, and on TUG test time after 6 months. No new safety signals were identified. These results show the real‐world effectiveness of asfotase alfa in improving physical functioning and HRQoL in adults with pediatric‐onset HPP. © 2020 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.
    Type of Medium: Online Resource
    ISSN: 2473-4039 , 2473-4039
    URL: Issue
    URL: Article
    DOI: 10.1002/jbm4.v4.9
    DOI: 10.1002/jbm4.10395
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2905710-3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Long-term effectiveness of asfotase alfa in adults with pediatric-onset hypophosphatasia in routine clinical practice
    Bioscientifica ; 2020
    In:  Endocrine Abstracts ( 2020-08-21)
    Details
    In: Endocrine Abstracts, Bioscientifica, ( 2020-08-21)
    Type of Medium: Online Resource
    ISSN: 1479-6848
    URL: Article
    DOI: 10.1530/endoabs.70.AEP144
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2020
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Therapie der Hypophosphatasie
    Georg Thieme Verlag KG ; 2020
    In:  Osteologie Vol. 29, No. 04 ( 2020-11), p. 275-282
    Details
    In: Osteologie, Georg Thieme Verlag KG, Vol. 29, No. 04 ( 2020-11), p. 275-282
    Abstract: Die Hypophosphatasie (HPP) als Folge einer genetisch bedingt defizienten Aktivität der gewebeunspezifischen alkalischen Phosphatase (TNAP) ist geprägt durch ein ausgesprochen weites Spektrum möglicher Manifestationen, sowohl hinsichtlich der Art der Symptomatik als auch bzgl. des Schweregrades der assoziierten Einschränkungen. Eine adäquate Behandlung erfordert insofern immer auch eine multimodale Herangehensweise unter spezieller Berücksichtigung der individuellen Ausprägung der Erkrankung. Für Patienten, bei denen die Erkrankung im Kindesalter aufgetreten ist, steht in Europa zur Behandlung der Knochenmanifestation mit Asfotase alfa (Strensiq) eine Enzymersatztherapie zur Verfügung. Sowohl in den Zulassungsstudien als auch in der klinischen Anwendung zeigen sich bei schwer betroffenen Kindern prinzipiell sehr erfreuliche radiologische und funktionelle Verbesserungen und ein verbessertes Gesamtüberleben. Auch bei Erwachsenen mit zulassungsentsprechender Krankheitsausprägung zeigen erste Ergebnisse eine deutliche Verbesserung der krankheitsassoziierten Einschränkungen und funktionelle Verbesserungen. Inzwischen gibt es auch ermutigende Daten zur Sicherheit und Wirksamkeit von Asfotase alfa über mehrere Behandlungsjahre. Während die oftmals als stark belastend empfundenen entzündlichen Schmerzen häufig gut auf eine intermittierende, bedarfsangepasste Behandlung mit NSAR ansprechen, sind im Hinblick auf die muskuloskelettale Gesamtgesundheit nachhaltige, langfristig ausgerichtete supportive Maßnahmen mit spezifischen Trainingskonzepten und einer alters- und bedarfsgerechten orthopädietechnischen Versorgung zu empfehlen. Das Potenzial diätetischer Maßnahmen zur Beeinflussung des Phosphat- und Vitamin-B6-Stoffwechsels bedarf sicher noch weiterer Untersuchungen. Bezüglich spezifisch knochenwirksamer Strategien sind primär antiresorptive Substanzen nach aktueller Datenlage kritisch zu betrachten, wohingegen osteoanabole Konzepte grundsätzlich möglich erscheinen. Sinnvollerweise sollte die Gesamtheit aller therapeutischen Maßnahmen an einem Zentrum mit entsprechender Erfahrung koordiniert und überblickt werden, wobei ein Großteil der konkreten Maßnahmen im aktiven Austausch auch heimatnah umgesetzt werden kann.
    Type of Medium: Online Resource
    ISSN: 1019-1291 , 2567-5818
    URL: Article
    DOI: 10.1055/a-1257-7976
    Language: German
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2020
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment
    Elsevier BV ; 2023
    In:  Bone Vol. 175 ( 2023-10), p. 116856-
    Details
    In: Bone, Elsevier BV, Vol. 175 ( 2023-10), p. 116856-
    Type of Medium: Online Resource
    ISSN: 8756-3282
    URL: Article
    DOI: 10.1016/j.bone.2023.116856
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2023
    detail.hit.zdb_id: 1496324-3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Impact of whole-body vibration exercise on physical performance and bone turnover in patients with monoclonal gammopathy of undetermined significance
    Elsevier BV ; 2020
    In:  Journal of Bone Oncology Vol. 25 ( 2020-12), p. 100323-
    Details
    In: Journal of Bone Oncology, Elsevier BV, Vol. 25 ( 2020-12), p. 100323-
    Type of Medium: Online Resource
    ISSN: 2212-1374
    URL: Article
    DOI: 10.1016/j.jbo.2020.100323
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 2695887-9
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 6
    Online Resource
    Online Resource
    Differential impact of osteoporosis, sarcopenia and obesity on physical performance in aging men
    Bioscientifica ; 2021
    In:  Endocrine Connections Vol. 10, No. 3 ( 2021-03), p. 256-264
    Details
    In: Endocrine Connections, Bioscientifica, Vol. 10, No. 3 ( 2021-03), p. 256-264
    Abstract: Aging and concurrent constitutional changes as sarcopenia, osteoporosis and obesity are associated with progressive functional decline. Coincidence and mutual interference of this risk factors require further evaluation. Methods Cross-sectional evaluation of musculoskeletal health in a community-dwelling cohort of men aged 65–90 years. Objectives included descriptive analysis of age-related decline in physical performance, prevalence of osteoporosis (FRAX-Score), sarcopenia (EWGSOP criteria) and obesity (BMI 〉 30 kg/m 2 ) and their coincidence/interference. Results Based on 507 participants assessed, aging was associated with progressive functional deterioration, regarding power (chair rise test −1.54% per year), performance (usual gait speed −1.38% per year) and muscle force (grip strength −1.52% per year) while muscle mass declined only marginally (skeletal muscle index −0.29% per year). Prevalence of osteoporosis was 41.8% ( n = 212) while only 22.9% ( n = 116) of the participants met the criteria for sarcopenia and 23.7% ( n = 120) were obese. Osteosarcopenia was found in n = 79 (15.6%), sarcopenic obesity was present in 14 men (2.8%). A combination of all three conditions could be confirmed in n = 8 (1.6%). There was an inverse correlation of BMI with physical performance whereas osteoporosis and sarcopenia did not interfere with functional outcomes. Conclusion Based on current definitions, there is considerable overlap in the prevalence of osteoporosis and sarcopenia, while obesity appears to be a distinct problem. Functional decline appears to be associated with obesity rather than osteoporosis or sarcopenia. It remains to be determined to what extend obesity itself causes performance deficits or if obesity is merely an indicator of insufficient activity eventually predisposing to functional decline.
    Type of Medium: Online Resource
    ISSN: 2049-3614
    URL: Article
    DOI: 10.1530/EC-20-0580
    Language: Unknown
    Publisher: Bioscientifica
    Publication Date: 2021
    detail.hit.zdb_id: 2668428-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 7
    Online Resource
    Online Resource
    Feasibility of simple exercise interventions for men with osteoporosis – A prospective randomized controlled pilot study
    Elsevier BV ; 2021
    In:  Bone Reports Vol. 15 ( 2021-12), p. 101099-
    Details
    In: Bone Reports, Elsevier BV, Vol. 15 ( 2021-12), p. 101099-
    Type of Medium: Online Resource
    ISSN: 2352-1872
    URL: Article
    DOI: 10.1016/j.bonr.2021.101099
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2021
    detail.hit.zdb_id: 2821774-3
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 8
    Online Resource
    Online Resource
    Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders
    The Endocrine Society ; 2022
    In:  The Journal of Clinical Endocrinology & Metabolism Vol. 107, No. 7 ( 2022-06-16), p. e3048-e3057
    Details
    In: The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society, Vol. 107, No. 7 ( 2022-06-16), p. e3048-e3057
    Abstract: Many different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs). Objective We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms. Methods Four clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men younger than 55 years with a bone mineral density (BMD) Z-score  & lt; -2.0 and/or pathological fractures. After exclusion of secondary causes or unequivocal clinical/biochemical hallmarks of monogenic LBMDs, all participants were genotyped by targeted next-generation sequencing. Results In total, 20.8% of the participants carried rare disease-causing variants (DCVs) in genes known to cause osteogenesis imperfecta (COL1A1, COL1A2), hypophosphatasia (ALPL), and early-onset osteoporosis (LRP5, PLS3, and WNT1). In addition, we identified rare DCVs in ENPP1, LMNA, NOTCH2, and ZNF469. Three individuals had autosomal recessive, 75 autosomal dominant, and 4 X-linked disorders. A total of 9.7% of the participants harbored variants of unknown significance. A regression analysis revealed that the likelihood of detecting a DCV correlated with a positive family history of osteoporosis, peripheral fractures ( & gt; 2), and a high normal body mass index (BMI). In contrast, mutation frequencies did not correlate with age, prevalent vertebral fractures, BMD, or biochemical parameters. In individuals without monogenic disease-causing rare variants, common variants predisposing for low BMD (eg, in LRP5) were overrepresented. Conclusion The overlapping spectra of monogenic adult LBMD can be easily disentangled by genetic testing and the proposed clinical criteria can help to maximize the diagnostic yield.
    Type of Medium: Online Resource
    ISSN: 0021-972X , 1945-7197
    URL: Article
    DOI: 10.1210/clinem/dgac147
    RVK:
    XA 10000
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2022
    detail.hit.zdb_id: 2026217-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 9
    Online Resource
    Online Resource
    Efficacy of Zoledronic Acid in the Treatment of Nonmalignant Painful Bone Marrow Lesions: A Triple‐Blind , Randomized, Placebo‐Controlled Phase III Clinical Trial ( ZoMARS )
    Wiley ; 2022
    In:  Journal of Bone and Mineral Research Vol. 37, No. 3 ( 2022-03), p. 420-427
    Details
    In: Journal of Bone and Mineral Research, Wiley, Vol. 37, No. 3 ( 2022-03), p. 420-427
    Abstract: 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. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
    Type of Medium: Online Resource
    ISSN: 0884-0431 , 1523-4681
    URL: Issue
    URL: Article
    DOI: 10.1002/jbmr.v37.3
    DOI: 10.1002/jbmr.4493
    RVK:
    XA 52230
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2008867-X
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 10
    Online Resource
    Online Resource
    Netzwerke Junger Muskuloskelettaler Forscher*Innen
    Georg Thieme Verlag KG ; 2021
    In:  Osteologie Vol. 30, No. 02 ( 2021-05), p. 157-162
    Details
    In: Osteologie, Georg Thieme Verlag KG, Vol. 30, No. 02 ( 2021-05), p. 157-162
    Abstract: Für junge Forscher*innen am Beginn des Karriereweges sind Instrumente der Nachwuchsförderung und -vernetzung von großer Bedeutung. Unterstützung ist hier in vielen Bereichen notwendig, vom Erwerb sogenannter Soft Skills, der Ausweitung von persönlichen Fähigkeiten und Fachkompetenz, dem Kontakt zu Kollegen*innen und dem Aufbau eines eigenen Netzwerkes bis hin zur Planung des Karriereweges. In einem breiten Themenbereich wie der muskuloskelettalen Forschung sind hier interdisziplinäre und Fachgesellschaften-übergreifende Angebote von großer Bedeutung. In diesem Artikel stellen wir Nachwuchsnetzwerke für den muskuloskelettalen Nachwuchs im deutschsprachigen Bereich vor, die ein breites Spektrum an Symposien, Forschungsförderung und Mentoring anbieten, vor allem aber eine Plattform zur Vernetzung junger Forscher darstellen. Dies sind insbesondere die MuSkITYR (Muskuloskeletal Interdisciplinary Translational Young Researcher), das Junge Forum O und U, die AGA-Studenten (Gesellschaft für Arthroskopie und Gelenkchirurgie) sowie das Junge Forum ÖGU (Österreichische Gesellschaft für Unfallchirurgie) und die SSB + RM (Swiss Society for Biomaterials and Regenerative Medicine) Young Scientists.
    Type of Medium: Online Resource
    ISSN: 1019-1291 , 2567-5818
    URL: Article
    DOI: 10.1055/a-1373-9297
    Language: German
    Publisher: Georg Thieme Verlag KG
    Publication Date: 2021
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...