Oral Health-Related Quality of Life in Dutch Adults With Osteogenesis Imperfecta.

Objective: To explore the oral health-related quality of life and its possible risk factors among adults with Osteogenesis Imperfecta using the Oral Health Impact Profile (OHIP)-49 questionnaire. Secondary objectives were to investigate the impact of self-reported Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters.

Materials And Methods: A cross-sectional questionnaire was distributed online to 417 Dutch adults with Osteogenesis Imperfecta at three national referral centers.

Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta.

Background: Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported. This paper describes the diverse manifestations of bleeding and bruising in a large cohort of 328 OI patients.

Incidence and nonunion rates of tibial fractures in adults with osteogenesis imperfecta: a retrospective cohort study of 402 patients with 42 fractures at an expert clinic.

Background: Tibial fractures are the most common fractures seen in adults and lead to the most nonunions. Osteogenesis imperfecta (OI) is characterized by increased bone fragility and higher risk of fractures. No studies have been published on the incidence of tibial fractures and nonunions in adults with OI.

Impact of digital interdisciplinary consultation on secondary care referrals by general practitioners: a protocol for a stepped-wedge cluster randomised controlled trial.

Introduction: Optimal collaboration between general practice and hospital care is crucial to maintain affordable and sustainable access to healthcare for the entire population. General practitioners (GPs) are the gatekeepers to specialist care and patients will visit hospitals mostly only after referral. However, a substantial part of these referrals may be inappropriate, as communication between GPs and medical specialists can be challenging and referring patients may be the most obvious action for a GP to perform.

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.

Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient's viewpoint and better comparability of outcomes. For this reason, the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation convened an interdisciplinary task force of 3 members from patient organizations and 12 healthcare professionals from recognized centers for interdisciplinary care for children and adults with osteogenesis imperfecta (OI) to develop guidelines for a basic roadmap to surgery in OI.Methods - All information from 9 telephone conferences, expert consultations, and face-to-face meetings during the International Conference for Quality of Life for Osteogenesis Imperfecta 2019 was used by the task force to define themes and associated recommendations.

A Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.

Osteogenesis imperfecta (OI) is characterized by bone fragility and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity, and short stature. It was thought that health-related quality of life (QoL) in patients with OI mainly depends on the severity of the skeletal deformities. However, it has become clear that additional factors can affect the QoL in all patients with OI.

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.

Osteogenesis imperfecta (OI) is characterized primarily by susceptibility to fractures with or without bone deformation. OI is genetically heterogeneous: over 20 genetic causes are recognized. We identified bi-allelic pathogenic KDELR2 variants as a cause of OI in four families.

Fatigue in adults with Osteogenesis Imperfecta.

Background: Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity and short stature can be present. It has long been assumed that the functional ability and quality of life of patients with OI depends primarily on the severity of skeletal deformities. However, fatigue is often mentioned in clinic by patients with all types of OI as an important modifier of their quality of life and does not always seem to be related to their functional ability.

Short-term results of total shoulder arthroplasty for ochronotic arthritis.

Alkaptonuria is a rare inherited autosomal recessive disorder resulting in large joint osteoarthritis with black discoloration of the cartilage. The glenohumeral is the third most affected joint. Two cases of ochronotic shoulder arthropathy with three shoulder joint replacements are presented.

Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals.

Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures. Other symptoms, such as easy bruising and bleeding complications during surgery necessitating transfusions, have also been reported. The aim of the cross-sectional pilot study was to assess the bleeding and bruising tendency in OI patients and to screen for possible underlying haematological disorders.

Incidence and treatment of femur fractures in adults with osteogenesis imperfecta: an analysis of an expert clinic of 216 patients.

Purpose: Osteogenesis imperfecta (OI) is characterized by increased bone fragility and susceptibility for fractures. A few studies described and compared treatment modalities for femur fractures in children with OI. However, no cohort studies on adults with OI have been published.

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements.

An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for adults with OI. Clinical data such as patient history, Dual Energy X-ray Absorptiometry measurements and laboratory findings are collected with patient consent. This study provides an overview of clinical characteristics of the patients who visited the clinic during its first 5 years, a total of 151 patients.

[A male with limited movement in the forearm].

A 33-year-old male with a history of over 50 fractures visited our outpatient clinic for adults with osteogenesis imperfecta. Rotation of his elbow joint was limited. An X-ray revealed ossification of the radio-ulnar interosseous membrane.