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1.
Osteoporos Int ; 29(12): 2781-2789, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30143849

ABSTRACT

Osteogenesis imperfecta (OI) is a disease causing bone fragility; however, it potentially affects all organs with a high content of collagen, including ears, teeth, and eyes. The study is cross-sectional and compares non-skeletal characteristics in adults with OI that clinicians should be aware of when caring for patients with OI. INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder. The skeletal fragility is pronounced; however, OI leads to a number of extra-skeletal symptoms related to the ubiquity of collagen type 1 throughout the human body. The vast majority of knowledge is derived from studies performed in the pediatric population. Thus, we aimed to investigate the nature and prevalence of ophthalmologic, odontologic, and otologic phenotypes in an adult population with OI. METHODS: The study population comprises 85 Danish OI patients (age 44.9 ± 15.9 years). Fifty-eight patients had OI type I, 12 OI type III, and 15 OI type IV according to the classification by Sillence. Audiometric evaluations and dental examinations were performed in 62 and 73 patients, respectively. Ophthalmologic investigations were performed in 64 patients, including measurements of the central corneal thickness. RESULTS: All patients, except two, had corneal thickness below the normal reference value. Patients with OI type I and patients with a quantitative collagen defect had thinner corneas compared to patients with OI type III and other patients with a qualitative collagen defect. One patient in this cohort was diagnosed with and treated for acute glaucoma. Dentinogenesis imperfecta was diagnosed in one fourth of the patients, based on clinical and radiographic findings. This condition was predominately seen in patients with moderate to severe OI. Hearing loss requiring treatment was found in 15 of 62 patients, of whom three were untreated. The most prevalent type of hearing loss (HL) was sensorineural hearing loss, whereas conductive HL was solely seen in patients with OI type III. The patients with the most severe degrees of HL were patients with mild forms of OI. Age was associated with increased HL. CONCLUSION: Although significant health problems outside the skeleton are frequent in adult patients with OI, the patients are not consistently monitored and treated for their symptoms. Clinicians treating adult patients with OI should be aware of non-skeletal health issues and consider including regular interdisciplinary check-ups in the management plan for adult OI patients.


Subject(s)
Dentinogenesis Imperfecta/diagnosis , Eye Diseases, Hereditary/diagnosis , Hearing Loss/diagnosis , Osteogenesis Imperfecta/diagnosis , Adult , Aged , Denmark/epidemiology , Dentinogenesis Imperfecta/epidemiology , Eye Diseases, Hereditary/epidemiology , Female , Hearing Loss/epidemiology , Hearing Loss/etiology , Humans , Male , Middle Aged , Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/epidemiology , Phenotype , Young Adult
2.
J Laryngol Otol ; 131(4): 309-315, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28173884

ABSTRACT

OBJECTIVE: To determine the pre- and post-operative prevalence of dizziness, tinnitus and taste disturbances in adult cochlear implant recipients. METHODS: A questionnaire regarding pre- and post-operative dizziness, tinnitus and taste disturbances was sent to 170 cochlear implant recipients implanted between January 2003 and March 2009. Seventy-seven patients (41 per cent) responded. RESULTS: Pre-operatively, 20 per cent of the participants experienced dizziness, 52 per cent experienced tinnitus and 3 per cent experienced taste disturbances. Post-operative dizziness developed in 46 per cent of patients and resolved in the majority of these; however, 15 per cent reported dizziness more than six months after implantation. Tinnitus worsened in 25 per cent of patients, whereas 73 per cent reported attenuation or termination of tinnitus. Post-operatively, tinnitus developed in 12 per cent and taste disturbances developed in 17 per cent of the patients. CONCLUSION: The high prevalence of dizziness, tinnitus and taste disturbances reported by cochlear implant recipients necessitates that assessment of symptoms related to inner ear and chorda tympani damage are included when evaluating operative results.


Subject(s)
Cochlear Implantation/adverse effects , Dizziness/epidemiology , Hearing Loss/complications , Postoperative Complications/epidemiology , Taste Disorders/epidemiology , Tinnitus/epidemiology , Adult , Aged , Aged, 80 and over , Cochlear Implants/adverse effects , Dizziness/etiology , Female , Hearing Loss/surgery , Humans , Male , Middle Aged , Postoperative Period , Preoperative Period , Prevalence , Surveys and Questionnaires , Taste Disorders/etiology , Tinnitus/etiology , Young Adult
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