Publications by authors named "Schnabel D"
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
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- Pathogenic variants in the SLC34A1 and SLC34A3 genes, responsible for sodium-phosphate transport, lead to rare phosphate wasting conditions, primarily in children, with various clinical presentations and outcomes.
- A study analyzed data from 113 patients across 90 families, revealing distinct symptoms: SLC34A1 carriers mostly show issues in infancy, while SLC34A3 carriers experience symptoms into childhood and adulthood, including a significantly higher prevalence of chronic kidney disease in adulthood.
- Biochemical markers were similar for both groups, indicating some common underlying mechanisms, and phosphate treatment yielded partial improvements in certain enzyme levels but raised parathyroid hormone levels, suggesting a complex interaction between treatments and kidney function.
Article Synopsis
- The study evaluated the evidence supporting the use of comprehensive genomic profiling (CGP) for cancer patients through an analysis of literature cited in a key coverage memorandum for the FoundationOne CDx test.
- Researchers reviewed 113 studies, finding that most were not conducted within a clinical setting and showed a wide variety of cancer types without consistency in the depth of sequencing.
- The review highlighted significant gaps in evidence, especially lacking rigorous studies that assess how CGP affects clinical outcomes, suggesting a need for better research to guide the approval of such diagnostic tests.
Background: X-linked hypophosphatemia (XLH) is a rare inherited phosphate-wasting disorder associated with bone and dental complications. Health-related quality of life (HRQoL) is reduced in XLH patients on conventional treatment with phosphate supplements and active vitamin D, while information on patients treated with burosumab is rare.
Methods: HRQoL was assessed in 63 pediatric XLH patients participating in a prospective, observational study and patient registry in Germany using the KIDSCREEN-52 survey instrument and standardized qualitative interviews.
Article Synopsis
- - X-linked hypophosphatemia (XLH) is a rare disorder caused by high levels of FGF23, leading to phosphate loss and decreased vitamin D production, while burosumab is a treatment that helps restore phosphate levels by inhibiting FGF23.
- - This post-authorization safety study (PASS) monitors the long-term safety of burosumab in children and adolescents aged 1-17 years, with this first interim analysis focusing on the initial safety outcomes based on registry data.
- - The analysis involved 67 participants, with 37.3% reporting at least one adverse event, primarily musculoskeletal issues; however, there were no serious adverse events or treatment withdrawals, indicating that the safety profile of
Background: Children with obesity have low 25 hydroxy-vitamin D (25-OH-D) levels compared to lean children. Recommendations on when to start vitamin D supplementation differ largely between countries. Longitudinal data on 25-OH-D levels to guide treatment decisions are scarce since they are largely influenced by solar radiation and are difficult to compare.
View Article and Find Full Text PDFPurpose: The study mapped depressive and anxiety symptom trajectories throughout adolescence and early adulthood, arrayed by time since menarche, a novel indicator of pubertal change and examined the effect of age of menarche and pubertal timing, more frequently used variables, on depressive and anxiety symptom severity trajectories.
Methods: Secondary analysis of a cross-sequential prospective longitudinal investigation included a community sample of 262 US, adolescent females. Participants were enrolled in age cohorts of 11, 13, 15, and 17 years.
The visibility of lesbian, gay, bisexual, transgender, queer, intersex, asexual, and all sexually and gender diverse (LGBTQIA+) families is growing. Anti-LGBTQIA+ rhetoric and actions continue to shape the public discourse, legislation, and health care. This article highlights unique challenges and strengths of children raised by LGBTQIA+ parents.
View Article and Find Full Text PDFBackground: 3% of all children are unusually short, and 3% are unusually tall. New approaches have broadened the range of therapeutic options in treating growth disorders.
Methods: This review is based on publications retrieved by a selective review of the literature and on the authors' clinical experience.
Unlabelled: Soluble RANKL (sRANKL) and osteoprotegerin (OPG) are regulators of osteoclast differentiation and activation, but adequate pediatric reference values are lacking. Here we provide LMS (Lambda-Mu-Sigma)-based continuous pediatric reference percentiles for sRANKL, OPG and sRANKL/OPG ratio that will allow calculation of standardized patient z-scores to assess bone modeling in children.
Purpose: Soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) are regulators of osteoclast differentiation and activation and thus bone metabolic turnover in children.
Context: The assessment of phosphate homeostasis in children is challenging due to the marked changes in laboratory parameters during growth and development, and the lack of adequate reference values.
Objective: To develop Lambda-Mu-Sigma (LMS)-based continuous pediatric reference percentiles for 7 key laboratory parameters of phosphate homeostasis.
Methods: This cross-sectional, single-center study, the HAnnover Reference values for Pediatrics (HARP) study, included 455 children aged 0.
Background: TransCon CNP (navepegritide) is an investigational prodrug of C-type natriuretic peptide (CNP) designed to allow for continuous CNP exposure with once-weekly dosing. This 52-week phase 2 (ACcomplisH) trial assessed the safety and efficacy of TransCon CNP in children with achondroplasia.
Methods: ACcomplisH is a global, randomised, double-blind, placebo-controlled, dose-escalation trial.
Article Synopsis
- X-linked hypophosphatemia (XLH) is a rare genetic disorder that causes phosphate wasting in the kidneys and is linked to increased levels of the hormone FGF23; its rarity can lead to delayed diagnosis, worsening patient outcomes.
- The International XLH Registry was launched in 2017 to gather data on XLH patients of all ages, with an interim analysis reporting on 579 participants as of March 2021, highlighting a longer diagnosis time for older adults compared to children.
- Data collected included family histories and genetic testing, revealing that a significant proportion of patients had biological relatives also affected by XLH, while most had a confirmed genetic mutation related to the disorder.
An unusual high number of girls were referred to our paediatric endocrine clinic with suspected precocious puberty (PP) since the beginning of the COVID-19 pandemic. We analysed our data and initiated a survey among German paediatric endocrinologists.At our centre, less than 10 patients were diagnosed of PP annually between 2015 and 2019.
View Article and Find Full Text PDFBackground: Somatropin treatment is indicated in a variety of disorders including growth hormone (GH) deficiency, Prader-Willi and Turner syndrome, chronic renal insufficiency and others. To date, almost all studies have been limited to single GH products, and no independent registry across indications and somatropin products was ever established.
Aim: The present investigator-initiated registry named INSIGHTS-GHT aims to provide comprehensive information on various aspects of somatropin treatment in Germany in approved indications within routine clinical practice: drug utilization, effectiveness (including real final height, body composition), tolerability, quality of life, other patient related outcomes (PRO), and health economic variables.
Context: Burosumab has been approved for the treatment of children and adults with X-linked hypophosphatemia (XLH). Real-world data and evidence for its efficacy in adolescents are lacking.
Objective: To assess the effects of 12 months of burosumab treatment on mineral metabolism in children (aged <12 years) and adolescents (aged 12-18 years) with XLH.
Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment in clinical practice, we convened with the objective of sharing these practice-based insights on the use of burosumab in children and adolescents with XLH. We attended two virtual meetings, then discussed key questions Within3, a virtual online platform.
View Article and Find Full Text PDFBackground: Malaria remains a major cause of morbidity and mortality in sub-Saharan Africa. Using insecticide-treated nets (ITNs) every night, year-round is critical to maximize protection against malaria. This study describes sociodemographic, psychosocial, and household factors associated with consistent ITN use in Cameroon, Côte d'Ivoire and Sierra Leone.
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- X-linked hypophosphataemia (XLH) is a rare genetic disorder characterized by elevated FGF23 levels, leading to phosphate-wasting and various bone-related issues.
- Traditional treatments like oral phosphate and vitamin D supplements don't fully address the root causes or all symptoms of the disease.
- A new study (PASS) is assessing the long-term safety of burosumab, a monoclonal antibody treatment for XLH, using data from a global registry over the next decade.
Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines. Management includes close monitoring of growth, the degree of leg bowing, bone pain, serum phosphate, calcium, alkaline phosphatase as a surrogate marker of osteoblast activity and thus degree of rickets, parathyroid hormone, 25-hydroxyvitamin D, and calciuria. An adequate calcium intake and normal 25-hydroxyvitamin D levels should be assured in all patients.
View Article and Find Full Text PDFAlthough recent work has described the microbiome in solid tumors, microbial content in hematological malignancies is not well-characterized. Here we analyze existing deep DNA sequence data from the blood and bone marrow of 1870 patients with myeloid malignancies, along with healthy controls, for bacterial, fungal, and viral content. After strict quality filtering, we find evidence for dysbiosis in disease cases, and distinct microbial signatures among disease subtypes.
View Article and Find Full Text PDFRickets is a disease of the growing child arising from alterations in calcium and phosphate homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth plate. Its symptoms depend on the patients' age, duration of disease, and underlying disorder. Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling gait, and leg bowing.
View Article and Find Full Text PDFIntroduction: Severe acquired hypothyroidism in childhood is a rare condition, mostly caused by autoimmune thyroiditis. Scarce and inconsistent data based on small patient numbers exist concerning its impact on growth in height.
Methods: Patient files at a single centre university hospital over 8 years were retrospectively reviewed.