Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.

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.

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities. INTRODUCTION: OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure. METHODS: The study comprised 85 OI patients aged 45 (19-78) years, Sillence type I (n = 58), III (n = 12), and IV (n = 15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry. COL1A1 and COL1A2 were sequenced and 68 OI causing mutations identified (46 in COL1A1, 22 in COL1A2). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (n = 67). RESULTS: A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (p < 0.05). HRpQCT revealed significant differences between patients with OI type I and IV. Patients with type I had lower vBMD (p < 0.005), thinner cortexes (p < 0.001), and reduced trabecular number (p < 0.005) compared to patients with type IV indicating that HRpQCT may distinguish type I from type IV better than DXA. CONCLUSION: The defective collagen in patients with OI has pronounced effects on the skeleton. The classical OI types based on the clinical classification show profound differences in bone mass and architecture and the differences correlate well with the underlying biochemical and molecular collagen abnormalities.

Level of training and experience in physicians performing interhospital transfers of adult patients in the internal medicine department.

AIM: To establish the level of training doctors who participate in interhospital transfers in Denmark. METHODS: A questionnaire was sent to every hospital department in Denmark with acute internal medicine admissions. RESULTS: Eighty-nine internal medicine departments were contacted and 84 responded (response rate 94.4%). Of the 84 hospitals, 75 (89.3%) indicated that they perform interhospital transfers. Most transfers were performed by interns (61.3%) or senior house officers (10.7%) with only a few months' experience in their current speciality. Training in interhospital transfer was offered by 24.0% of departments. When presented with cases of interhospital transfers of critically ill patients, 77.3% of the responders stated that their department would not follow guidelines when performing the transfer. CONCLUSIONS: The gap between recommended professional standards and current practice shows a need to establish educational programmes in interhospital transfer.

Recovery from orbital floor fractures: a prospective study of patients' and doctors' experiences.

This study aimed at investigating the extent to which remaining symptoms and signs troubled patients in the year after suffering from zygomatico-orbital fractures, and whether there was any discrepancy between patients' and doctors' opinions as to the presence of symptoms and signs. Over the course of 1 year, 46 patients were included. Symptoms and clinical findings were registered in a 'doctor's protocol', and patients described self-reported symptoms and signs using a visual analogue scales (VAS) in a questionnaire administered 5 times during the year after injury. The VAS proved to be a useful instrument for evaluating patient discomfort and indicating differences between patients' and doctors' opinions regarding the presence of symptoms and signs. Agreement between the two was good regarding the presence of objective and measurable signs, such as facial asymmetry and diplopia. When it came to sensibility and mouth-opening ability, however, discrepancies were evident. It is desirable that reliable methods for measuring sensibility and evaluating mouth opening are included in follow-up routines. This would increase our knowledge of the course of healing, prognosis and possibilities for the prevention and active treatment of these problems.

Long-term sequelae after surgery for orbital floor fractures.

A surgical technique involving exact repositioning and rigid fixation is required for the reduction of fractures of the orbital floor. Even then, sequelae may be present long after the trauma. The aim of this study was to establish the frequency and type of sequelae after surgery for orbital floor fractures and to investigate the extent to which the method of surgery had any impact on the severity of the sequelae. A questionnaire was sent to all 107 patients (response rate 77%) 1 to 5 years after the injury. Further clinical data were obtained from the patients' charts. Eighty-three percent of the patients were affected by some kind of permanent sequelae in terms of sensibility, vision, and/or physical appearance. A high frequency of diplopia (36%) was related to the reconstruction of the orbital floor with a temporary "supporting" antral packing in the maxillary sinus, a technique which has now been abandoned at our department in favor of orbital restoration with sheets of porous polyethylene. Our conclusion is that, because long-term sequelae are common, the surgical technique must be subjected to continuous quality control to minimize future problems for this group of patients.