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  • 1
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    Online Resource
    Image_1.TIFF
    Frontiers Media SA ; 2020
    In:  Frontiers in Endocrinology Vol. 11 ( 2020-6-9)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 11 ( 2020-6-9)
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2020.00355
    DOI: 10.3389/fendo.2020.00355.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2592084-4
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  • 2
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    Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia
    Frontiers Media SA ; 2021
    In:  Frontiers in Endocrinology Vol. 12 ( 2021-9-27)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 12 ( 2021-9-27)
    Abstract: X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH. Design Data on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults. Patients and Controls Radiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76). Results Patients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI. Conclusions This study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    DOI: 10.3389/fendo.2021.754084
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
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  • 3
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    Table_1.xlsx
    Frontiers Media SA ; 2022
    In:  Frontiers in Endocrinology Vol. 13 ( 2022-3-24)
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    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 13 ( 2022-3-24)
    Abstract: Gait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis. While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutral endopeptidase) deficiency in non-rachitic features including complex deformities, skull and dental affections remains unclear. FGF23-inhibiting antibody treatment can normalize serum phosphate levels and to improve rickets in XLH patients. However, linear growth remains impaired and effects on lower limb deformity and gait are insufficiently studied. Aims To characterize and evaluate the course of lower limb deformity in a case series of pediatric XLH patients receiving Burosumab therapy. Methods Comparative assessment of planar radiographs, gait analysis, biochemical and clinical features of pediatric patients before and ≥12 months after initiation of FGF23-inhibiting was performed prospectively. Lower limb maltorsion was quantified by torsional MRI and gait analysis. Standardized deformity analysis of lower limb anteroposterior radiographs was conducted. Results Seven patients (age 9.0 +/-3.6 years) were eligible for this study. All patients received conventional treatment before onset of antibody treatment. Maltorsion of the femur was observed in 8/14 legs using torsional MRI (mean antetorsion 8.79°). Maltorsion of the tibia was observed in 9/14 legs (mean external torsion 2.8°). Gait analysis confirmed MRI findings with femoral external malrotation prior to and one year after onset of Burosumab therapy. Internal foot progression (intoeing gait) remained pathological in all cases (mean 2.2°). Knee rotation was pathologically internal 10/14 legs. Mean mechanical axis deviation (MAD) of 16.1mm prior to Burosumab changed in average by 3.9mm. Three children underwent guided growth procedures within the observation period. Mild postprocedural rebound of frontal axis deviation was observed under Burosumab treatment in one patient. Conclusions This is the first study to investigate lower limb deformity parameters quantitatively in children with XLH receiving Burosumab. One year of Burosumab therapy was associated with persistent maltorsion and frontal axis deviation (varus/valgus) despite improved rickets in this small, prospective uncontrolled study.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2022.866170
    DOI: 10.3389/fendo.2022.866170.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
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  • 4
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    DataSheet_1.docx
    Frontiers Media SA ; 2023
    In:  Frontiers in Endocrinology Vol. 13 ( 2023-1-31)
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    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 13 ( 2023-1-31)
    Abstract: 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 via Within3, a virtual online platform. Points of discussion related to patient selection criteria, burosumab starting dose, dose titration and treatment monitoring. Our discussions revealed that criteria for selecting children with XLH varied across Europe from all children above 1 year to only children with overt rickets despite conventional treatment being eligible. We initiated burosumab dosing according to guidance in the Summary of Product Characteristics, an international consensus statement from 2019 and local country guidelines. Dose titration was primarily guided by serum phosphate levels, with some centers also using the ratio of tubular maximum reabsorption of phosphate to glomerular filtration rate (TmP/GFR). We monitored response to burosumab treatment clinically (growth, deformities, bone pain and physical functioning), radiologically (rickets and deformities) and biochemically (serum phosphate, alkaline phosphatase, 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D, urine calcium-creatinine ratio and TmP/GFR). Key suggestions made by our group were initiation of burosumab treatment in children as early as possible, from the age of 1 year, particularly in those with profound rickets, and a need for clinical studies on continuation of burosumab throughout adolescence and into adulthood.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2022.1034580
    DOI: 10.3389/fendo.2022.1034580.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
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  • 5
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    Table_1.pdf
    Frontiers Media SA ; 2023
    In:  Frontiers in Endocrinology Vol. 14 ( 2023-8-1)
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    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 14 ( 2023-8-1)
    Abstract: Childhood and adolescence are critical periods of bone mineral acquisition. Children on anticoagulation (AC) might have an increased risk for reduced bone mineral density (BMD). Risk factors for impaired bone accumulation include chronic diseases, immobility, and medication. Vitamin K (VK) deficiency reflected by undercarboxylated osteocalcin levels (ucOC) has been identified as a predictor of osteoporosis and fractures. Data on bone health in children under AC are sparse. Aims To evaluate BMD in children on AC and characterize the risk factors of low BMD, including VK and Vitamin D (VD) status. Methods Single-center cross-sectional study of clinical, biochemical, and densitometric parameters. Assessment of VK surrogate parameters included ucOC and matrix gla protein (MGP). Results A total of 39 children (4–18 years; 12 females) receiving AC were included, 31 (79%) on VK antagonists and 8 (21%) on direct oral anticoagulants. Overall, BMD was decreased for both the lumbar spine (LS; −0.7SDS) and total body less head (TBLH; −1.32SDS) compared with pediatric reference data. Significant associations were found between early pubertal development and TBLH-BMD, and between BMI and LS-BMD. VK surrogate parameters were highly related to patients’ age and pubertal development. Neither serum parameters nor AC-related factors predicted BMD. VD was detected in 10/39 patients with lower values during puberty. Conclusion Our data indicate BMD reduction in pediatric patients on AC. Although AC-related factors did not predict reduced BMD, low BMI and pubertal stages represented important risk factors. Awareness of risk factors for low BMD and high prevalence of VD deficiency during puberty could contribute to the improvement of bone health in this vulnerable patient group.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fendo.2023.1192670
    DOI: 10.3389/fendo.2023.1192670.s001
    DOI: 10.3389/fendo.2023.1192670.s002
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
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  • 6
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    The ankle in XLH: Reduced motion, power and quality of life
    Frontiers Media SA ; 2023
    In:  Frontiers in Endocrinology Vol. 14 ( 2023-3-22)
    Details
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 14 ( 2023-3-22)
    Abstract: X-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life. Early osteoarthritis and reduced range of motion of the lower limbs are known pathologies in XLH patients. However, XLH-specific data on the affected compartments such as the ankle joint through the evaluation of radiographic and gait analysis data is still lacking. Patients and methods In this cross-sectional study, patients with genetically verified XLH, age ≥ 16 - 50 years and a complete record of gait analysis and or radiographic analysis data were included. Clinical examination, radiological and gait analysis data were compared to norms using the dataset of our gait laboratory registry. Radiographic analysis included tibial deformity analysis and assessment of osteoarthritis and enthesopathies. Western Ontario and McMaster Universities Arthritis Index (WOMAC), SF36v2, American Orthopedic Foot and Ankle Society score (AOFAS) and the Foot and Ankle Outcome Score (FAOS) were used. Twentythree participants with 46 limbs were eligible for the study. Results A total of 23 patients (n=46 feet) met the inclusion criteria. Patients with XLH had significantly reduced gait quality, ankle power and plantar flexion (p & lt; 0.001) compared to a historic gait laboratory control group. Ankle valgus deformity was detected in 22 % and ankle varus deformity in 30 % of the patients. The subtalar joint (59.1%) as well as the anterior tibiotalar joint (31.1%) were the main localizations of moderate to severe joint space narrowing. Ankle power was decreased in moderate and severe subtalar joint space narrowing (p & lt; 0.05) compared to normal subtalar joint space narrowing. No lateral or medial ligament instability of the ankle joint was found in clinical examination. Tibial procurvatum deformity led to lower ankle power (p & lt; 0.05). Conclusions This study showed structural and functional changes of the ankle in patients with XLH. Subtalar ankle osteoarthritis, patient reported outcome scores and clinical ankle restriction resulted in lower gait quality and ankle power.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    URL: Article
    DOI: 10.3389/fendo.2023.1111104
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
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  • 7
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    Saliva Sampling for Prospective SARS-CoV-2 Screening of Healthcare Professionals
    Frontiers Media SA ; 2022
    In:  Frontiers in Medicine Vol. 9 ( 2022-1-26)
    Details
    In: Frontiers in Medicine, Frontiers Media SA, Vol. 9 ( 2022-1-26)
    Abstract: The objective of this study was to analyze the feasibility and acceptance of a non-invasive, daily and proactive screening program for SARS-CoV-2 infection employing serial saliva testing, in combination with a digital questionnaire among healthcare providers (HCPs) in a multi-professional setting. Design This was a prospective cohort study involving HCPs from different units at a single tertiary care center, over a pilot phase of 4 weeks during the first wave of the COVID-19 pandemic from April 18th to June 6th, 2020. Setting Pediatric tertiary patient care units, Comprehensive Center for Pediatrics, Medical University of Vienna. Subjects HCPs from different units, including physicians, nurses, midwives, and administrative staff (with patient contact) were considered eligible for the study. Study participants were working in different settings in our center at varying levels of risk exposure. Interventions Saliva collection from mouth gargle and electronic symptom and exposure monitoring (eSEM) was performed by participants at the onset of each regular clinical shift (day or night shift), using an anonymous ID for matching the results. Measurements RT-PCR of all saliva samples, eSEM, as well as feasibility and acceptance thereof. Results Two hundred and seventy-five volunteers collected 1,865 saliva samples and responded 1,378 times in the eSEM during a 4-week period. 1,331 (96.7%) responses were that the testing was feasible and acceptable. The most common severe symptom during the 4-week period mentioned by HCPs was headache, reported 54 times (3.9%). Two SARS-CoV-2 positive samples—one of them being associated with symptoms—were identified. The acceptance rate among HCPs was 96.6%. Conclusion Serial saliva screening was a well-accepted and feasible method for monitoring SARS-CoV-2 infectious state in health care professionals. Combination of regular SARS-CoV-2 tests with sequential saliva collection and storage could potentially represent a highly efficient strategy to identify and trace virus positive staff for employee and patient safety.
    Type of Medium: Online Resource
    ISSN: 2296-858X
    URL: Article
    DOI: 10.3389/fmed.2022.823577
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2775999-4
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