53 research outputs found
Adalbert Raimann's Quick Files
No full textThe Quick Files feature was discontinued and it’s files were migrated into this Project on March 11, 2022. The file URL’s will still resolve properly, and the Quick Files logs are available in the Project’s Recent Activity
Adalbert Raimann's Quick Files
No full textThe Quick Files feature was discontinued and it’s files were migrated into this Project on March 11, 2022. The file URL’s will still resolve properly, and the Quick Files logs are available in the Project’s Recent Activity
Transition Care for Young Persons with Rare Bone Mineral Conditions: A Consensus Recommendation from the ECTS Rare Bone Disease Action Group
No full textAbstract Transition care (TC) is crucial for young persons with rare bone and mineral conditions (RBMCs) as they move from pediatric to adult healthcare. Effective TC prevents care disruptions and supports medical and psychosocial needs. However, gaps in communication, a shortage of adult RBMC specialists, and challenges in navigating adult healthcare necessitate standardized care. This study aimed to develop consensus-based recommendations for TC in RBMCs, focusing on best practices for seamless transition and patient empowerment. A two-round Delphi survey (September 2023–April 2024) was conducted among European RBMC experts, including 3 pediatric and 8 adult clinicians and 3 patient representatives from the European Calcified Tissue Society (ECTS). The panel formulated and refined statements through literature review and iterative scoring. Statements reaching ≥ 70% consensus were retained. A total of 81 statements were finalized across seven domains: initiation and planning, TC requirements, patient empowerment, organization and communication, service infrastructure and funding, and clinical care. Consensus was achieved on 64 out of 81 statements, with strong agreement on general and RBMC-specific recommendations. Key priorities included structured coordination among healthcare providers and a patient-centered approach that fosters self-advocacy and self-management. This Delphi consensus provides a structured framework for TC in young persons with RBMCs, emphasizing multidisciplinary care and patient empowerment. Future studies should assess the feasibility and impact of these guidelines across diverse healthcare systems
Journal für Klinische Endokrinologie und Stoffwechsel / Osteoporose im Kindes- und Jugendalter
No full textOsteoporose ist eine Erkrankung des Skelettapparats, die durch eine Beeinträchtigung der Knochenmikroarchitektur zu einer erhöhten Knochenbruchrate führt. Während Osteoporose im höheren Erwachsenenalter eine häufige Diagnose darstellt, wird der Osteoporose des Kindes- und Jugendalters erst seit relativ kurzer Zeit zunehmend Bedeutung zugesprochen. Generell werden zwei unterschiedliche Formen der Erkrankung unterschieden: Die primäre Osteoporose wird verursacht durch genetische Veränderungen in skelettrelevanten Genen, die häufigste Erkrankungsgruppe stellt die Osteogenesis imperfecta mit ursächlichen Mutationen im Kollagen-1-Gen dar. Internistische Maßnahmen umfassen neben funktionell-therapeutischen Maßnahmen auch pharmakologische Therapien mit Bisphosphonaten. Die sekundäre Osteoporose als Symptom chronischer Grunderkrankungen oder pharmakologischer Interventionen weist eine deutlich höhere Prävalenz als die primären Formen der Osteoporose auf. Abhängig von Pathomechanismus und Verlauf der Grunderkrankung kommt es zu osteoporotischen Symptomen unterschiedlichster Ausprägung. Die Therapiekonzepte müssen der individuellen Symptomatik angepasst werden, die Datenlage zum Einsatz von Bisphosphonaten ist deutlich geringer als bei der Osteogenesis imperfecta. Ziel dieses Artikels ist es, einen Überblick über Diagnostik und Therapie der sehr unterschiedlichen Formen der pädiatrischen Osteoporose sowie einen Einblick in die rezenten Entwicklungen für den primär und Sekundärversorgungsbereich zu geben.Osteoporosis is defined as pathologic condition of the skeleton with impaired bone microarchitecture and increased bone fragility. In contrast to the well-established standards of care for adult-onset types of osteoporosis, such as postmenopausal osteoporosis, specific guidelines on diagnostics and treatments in pediatric populations have emerged just in recent years. Two major types of pediatric osteoporosis can be distinguished: Primary osteoporosis is caused by mutations in structural or regulatory genes of the skeleton, such as collagen 1A1/2. The resulting qualitative or quantitative deficits in bone structure lead to a broad spectrum of bone frailty and soft tissue affection as observed in the different types of osteogenesis imperfecta. Specialized pediatric care involves multidisciplinary management including functional therapy and pharmacologic treatment with bisphosphonates. Secondary osteoporosis as a symptom of nonprimary bone-related conditions represents a much more prevalent condition as compared to primary osteoporosis. Due to the diverse etiologies and underlying pathomechanisms, clinical features vary from case to case and data on specific therapeutic measures is sparse. Patient management has to be tailored to the individual need of the patient and can include bisphosphonate treatment and induction of puberty besides optimization of the underlying condition and functional therapeutic measures. This review aims to provide an overview on diagnostics and current therapeutic options for pediatric osteoporosis and to give insights into recent developments with relevance for primary and secondary care
Journal für Klinische Endokrinologie und Stoffwechsel / X-chromosomale Hypophosphatämie (XLH)/Phosphatdiabetes - Eine lebenslange Erkrankung
No full textDie X‑chromosomale Hypophosphatämie (X-linked hypophosphatemic rickets, XLH, OMIM # 307800) ist eine seltene Erkrankung des Knochenstoffwechsels, die mit einem ausgeprägten Phosphatverlust und oftmals schwerer Beeinträchtigung der Lebensqualität einhergeht. Durch einen bislang noch ungeklärten Pathomechanismus kommt es durch Mutationen in der Endopeptidase PHEX zu einer vermehrten Produktion von Fibroblast Growth Factor 23 (FGF23). Dieser Hauptregulator des Phosphathaushalts verursacht eine pathologisch erhöhte renale Phosphatausscheidung sowie eine Verminderung der Vitamin-D-Aktivierung. Im Kindes- und Jugendalter zählen Rachitis, Wachstumsstörungen sowie mitunter schwere Beindeformitäten zu den Leitsymptomen. Im Erwachsenenalter kommen neben Beinfehlstellungen frühzeitige Gelenksabnutzungen, Weichteilkalzifikationen, Sehnenansatzentzündungen (Enthesitis) sowie Mineralisationsstörungen des Knochens („Pseudofrakturen“), welche die Lebensqualität erheblich beeinträchtigen können, hinzu. Durch das breite Spektrum der Symptome, die bis zu neurochirurgischen Komplikationen wie Syringomyelie und Chiari-Malformationen führen, ist die frühe Diagnose und Anbindung in einem multidisziplinären Setting für die Betreuung der PatientInnen essenziell.
Die orale Gabe von Phosphatsalzen und aktiven Vitamin-D-Derivaten stellte bis vor Kurzem die wichtigste pharmakologische Behandlungsoption dar, die vor allem bei frühem Beginn zu einer Abschwächung der Symptomatik führen konnte. Seit der Zulassung von Burosumab, einem Antikörper gegen FGF23, steht für die Behandlung von Kindern und adulten PatientInnen mit XLH eine in den Pathomechanismus eingreifende, therapeutische Option zur Verfügung.X‑linked hypophosphatemic rickets (XLH, OMIM # 307800) is a rare disease of bone metabolism associated with marked phosphate loss and often severe impairment of quality of life. By an as yet unexplained pathomechanism, inhibiting mutations in the endopeptidase PHEX result in increased production of fibroblast growth factor 23 (FGF23). This master regulator of phosphate balance causes pathologically increased renal phosphate excretion and impaired vitamin D activation. Rickets, growth disorders, and lower limb deformities are among the leading symptoms during childhood and adolescence. In adulthood, symptoms include osteoarthritis, soft tissue calcifications, enthesitis, and bone mineralization disorders (“pseudofractures”), often causing a profound burden of disease. Due to the wide spectrum of symptoms, including neurosurgical complications such as syringomyelia and Chiari malformations, early diagnosis and multidisciplinary management in expert centers is essential for patient care
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH)
No full textInternational audienc
A journey through growth plates: tracking differences in morphology and regulation between the spine and the long bones in a pig model
No full textDisorders of the Calcium Sensing Signaling Pathway: From Familial Hypocalciuric Hypercalcemia (FHH) to Life Threatening Conditions in Infancy
No full textFamilial hypocalciuric hypercalcemia (FHH) is a mostly benign condition of elevated calcium and PTH levels based on a hyposensitive calcium sensing receptor (CaSR) in FHH 1 or its downstream regulatory pathway in FHH2 and FHH3. In children, adolescents and young adults with FHH the main challenge is to distinguish the condition from primary hyperparathyroidism and thereby to avoid unnecessary treatments including parathyroidectomy. However, inheritance of FHH may result in neonatal hyperparathyroidism (NHPT) or neonatal severe hyperparathyroidism (NSHPT), conditions with high morbidity, and in the latter even high mortality. This review focuses on the genetic and pathophysiological framework that leads to the severe neonatal form, gives recommendations for counselling and summarizes treatment options
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study
No full textAbstract
Background
Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden of achondroplasia among individuals across a broad range of ages, including adults.
Methods
Demographic, clinical and healthcare resource use data were collected from medical records of achondroplasia patients enrolled in 13 sites across six European countries in this retrospective, observational study. Descriptive statistics or event rates per 100 person-years were calculated and compared across age groups as well as by history of limb lengthening. Patient-reported outcomes (quality of life [QoL], pain, functional independence, work productivity and activity impairments) were evaluated using questionnaires at the time of enrolment. An exploratory analysis investigated correlations between height (z-score or centimetres) and patient-reported outcomes.
Results
Overall, 186 study patients were included, with a mean age of 21.7 ± 17.3 years (range 5.0–84.4). At least one complication or surgery was reported for 94.6% and 72.0% of patients, respectively, at a rate of 66.6 and 21.5 events per 100 person-years. Diverse medical and surgical complications were reported for all ages in a bimodal distribution, occurring more frequently in the youngest and oldest age groups. A total of 40 patients had previously undergone limb lengthening (capped at 20% per the study protocol). The most frequent surgery types varied by age, in line with complication profiles. Healthcare resource use was high across all age groups, especially among the youngest and oldest individuals, and did not differ substantially according to history of limb lengthening. Compared to general population values, patients reported impaired QoL particularly for physical functioning domains. In addition, patients reported difficulty carrying out daily activities independently and pain starting in childhood. Patient height correlated with multiple patient-reported outcomes.
Conclusions
The findings of this study suggest that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, and increased pain. These results highlight the large amount of healthcare resources that individuals with achondroplasia require throughout their lifespans and provide novel insights into current achondroplasia management practices across Europe.
Trial registration ClinicalTrials.gov, NCT03449368, Submitted 14 December 2017 – prospectively registered, https://clinicaltrials.gov/ct2/show/record/NCT03449368
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