X-linked hypophosphatemia (XLH) is the most common form of hereditary hypophosphatemic rickets and is characterised by an increased production of the hormone fibroblast growth factor 23 (FGF23), caused by mutations in the PHEX gene. The excess of FGF23 determines a decrease in the renal tubular reabsorption of phosphate and inhibits 1-alpha-hydroxylase, which decreases the synthesis of 1,25-dihydroxycholecalciferol (1,25(OH) 2 D) and therefore diminishes intestinal phosphate absorption. Both mechanisms contribute to chronic hypophosphatemia. 1 Chronic hypophosphatemia causes impaired skeletal mineralization, which often results in stunted linear growth, lower limb deformity, pain and physical dysfunction. Other manifestations involve spontaneous dental abscesses, enthesopathies, osteoarthritis and muscle weakness. Conventional treatment includes oral phosphate and active vitamin D supplementation. In children, it has demonstrated improvement of bone deformity and height outcome.However, efficacy of conventional treatment in adults remains controversial. 1,2 Hearing loss has been associated with XLH, with a wide range of prevalence, ranging from 16% to 76%, depending on the studied population, age and diagnostic criteria, with a wide range of clinical presentation. [3][4][5][6] Little is known about the otorhinolaryngological presentation of XLH in cohorts from developing countries. The aim of this study was to describe these manifestations in XLH patients from our region and to explore its association with the severity of biochemical and skeletal involvement. | ME THODS | Study designA cross-sectional observational study was performed. Diagnosis of XLH was based on clinical, radiological and biochemical findings that indicated congenital hypophosphatemia due to isolated renal phosphate wasting, confirmed with genetic analysis with PHEX mutation. Patients were recruited between May and
ObjectiveThis study aims to create a synthetic laryngeal microsurgery simulation model and training program; to assess its face, content, and construct validity; and to review the available phonomicrosurgery simulation models in the literature.Study DesignNonrandomly assigned control study.SettingSimulation training course for the otolaryngology residency program at Pontificia Universidad Católica de Chile.MethodsResident (postgraduate year 1 [PGY1]/PGY2) and expert groups were recruited. A laryngeal microsurgery synthetic model was developed. Nine tasks were designed and assessed through a set of programmed exercises with increasing difficulty, to fulfill 5 surgical competencies. Imperial College Surgical Assessment Device sensors applied to the participants' hands measured time and movements. The activities were video‐recorded and blindly assessed by 2 laryngologists using a specific and global rating scale (SRS and GRS). A 5‐point Likert survey assessing validity was completed by experts.ResultsEighteen participants were recruited (14 residents and 4 experts). Experts performed significantly better than residents in the SRS (p = .003), and GRS (p = .004). Internal consistency was demonstrated for the SRS (α = .972, p < .001). Experts had a shorter execution time (p = .007), and path length with the right hand (p = .04). The left hand did not show significant differences. The survey assessing validity resulted in a median 36 out of 40 points score for face validity; and 43 out of 45 points score, for global content validity. The literature review revealed 20 available phonomicrosurgery simulation models, only 6 with construct validity.ConclusionThe face, content, and construct validity of the laryngeal microsurgery simulation training program were established. It could be replicated and incorporated into residents' curricula.
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