A5010953006- Connective tissue disorders research
- Bone fractures and treatments
- Bone and Dental Protein Studies
- Hip disorders and treatments
- Bone health and osteoporosis research
- Cardiovascular and Diving-Related Complications
- Blood Coagulation and Thrombosis Mechanisms
- Hip and Femur Fractures
- Delphi Technique in Research
- Medical and Biological Sciences
- Hemophilia Treatment and Research
- Bone Tumor Diagnosis and Treatments
- Primary Care and Health Outcomes
- Heterotopic Ossification and Related Conditions
- Injury Epidemiology and Prevention
- Soft tissue tumor case studies
- Interprofessional Education and Collaboration
- Oral and Maxillofacial Pathology
- Substance Abuse Treatment and Outcomes
- Scoliosis diagnosis and treatment
- Aortic Disease and Treatment Approaches
- Healthcare Systems and Technology
- Temporomandibular Joint Disorders
- Protease and Inhibitor Mechanisms
- Child Abuse and Related Trauma
Isala
2003-2025
Wilhelmina Children's Hospital
1998-2003
University Medical Center Utrecht
2000
Onze Lieve Vrouwziekenhuis Hospital
1999
Abstract 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 in a large cohort 328 OI patients. The aim this study to provide insight aspects therapeutic considerations bleedings OI. Methods descriptive was conducted at National Expert Center for adults with Netherlands. Bleeding assessed validated...
ABSTRACT Objective This study investigated self‐reported symptoms of temporomandibular disorders, mandibular functional impairment, and obstructive sleep apnea among Dutch adults with Osteogenesis Imperfecta. Materials Methods A cross‐sectional online survey was distributed Possible risk factors for disorders (3Q/TMD; DC/TMD), impairments (Mandibular Function Impairment Questionnaire), (STOP‐Bang) were explored using univariate multiple regression analyses. Results 31% 155 respondents...
Abstract Background Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows wide variation. Therefore, care for patients with requires an interdisciplinary approach. effectiveness particular interventions and treatment protocols teams not clear due to non-standardized variation patient outcomes thus making the comparison outcome measures available in literature difficult. It only by agreeing on common, standard set...
The brittleness of bone in patients with osteogenesis imperfecta (OI) has been attributed to an aberrant collagen network. However, the role loss tissue integrity not well established. To gain insight into biochemistry and structure network, cross-links hydroxylysylpyridinoline (HP) lysylpyridinoline (LP) level triple helical hydroxylysine (Hyl) were determined OI (types I, III, IV) as controls. amount Hyl was increased all patients. LP levels significantly different; contrast, HP (and a...
Abstract Background Osteogenesis Imperfecta (OI) is characterized by bone fragility, and features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity short stature can be present. It has long been assumed that the functional ability quality of life patients with OI depends primarily on severity skeletal deformities. However, fatigue often mentioned in clinic all types an important modifier their does not always seem to related ability. The aim this study...
Abstract Data on bone microarchitecture in osteogenesis imperfecta (OI) are scarce. The aim of this cross-sectional study was to assess and strength a large cohort adults with OI using high-resolution peripheral quantitative computed tomography (HR-pQCT) evaluate challenges HR-pQCT cohort. Second-generation scans were obtained at the distal radius tibia 118 men women Sillence type I, III, or IV an extremity-length-dependent scan protocol. In total, 102 105 sufficient quality could be...
Osteogenesis imperfecta (OI) is characterized by increased bone fragility and susceptibility for fractures. A few studies described compared treatment modalities femur fractures in children with OI. However, no cohort on adults OI have been published. This study adult patients aims to give insight into the incidence of non-unions its best options avert non-union. In this retrospective, descriptive expert clinic The Netherlands, all medical charts 16 years or older were analyzed fracture...
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 assess tendency in OI patients screen for possible underlying haematological disorders. Bleeding investigated using International Society on Thrombosis Haemostasis assessment tool (ISTH-BAT) 22 adult patients. Laboratory testing...
ABSTRACT Osteogenesis imperfecta (OI) is characterized by bone fragility and secondary features such as blue sclerae, dentinogenesis imperfecta, hearing loss, ligamentous laxity, short stature. It was thought that health‐related quality of life (QoL) in patients with OI mainly depends on the severity skeletal deformities. However, it has become clear additional factors can affect QoL all OI. In this study, we compare dimensions adults a control population. The SF‐36 questionnaire distributed...
An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, Netherlands to achieve optimal care OI. Clinical data such as patient history, Dual Energy X-ray Absorptiometry measurements and laboratory findings are collected consent. This study provides an overview of clinical characteristics patients who visited clinic during its first 5 years, a total 151 patients. In this study, we focus on bisphosphonate use bone density time presentation...
The Bailey-Dubow nail, inserted in the femur or tibia of 34 children with osteogenesis imperfecta (OI), was studied retrospectively. Comparing various groups OI, no significant difference found. Location nail (tibia femur) did not influence complication rate significantly. reoperation 29%, a comparable to that reported earlier studies. part located around knee had significantly higher migration (P = 0.005 at obturator ends and P 0.007 sleeve ends). Migration reason reoperate 50% patients....
ABSTRACT Objective To explore the oral health‐related quality of life and its possible risk factors among adults with Osteogenesis Imperfecta using Oral Health Impact Profile (OHIP)‐49 questionnaire. Secondary objectives were to investigate impact self‐reported Imperfecta, Dentinogenesis age on various dental parameters. Materials Methods A cross‐sectional questionnaire was distributed online 417 Dutch at three national referral centers. Multivariate linear regression performed identify...
Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment various diseases conditions better care from the patient's viewpoint comparability outcomes. For this reason, Osteogenesis Imperfecta Federation Europe Care4BrittleBones Foundation convened an interdisciplinary task force 3 members 12 healthcare professionals recognized centers children adults with osteogenesis imperfecta (OI) to develop a basic roadmap surgery OI.Methods All...
Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists collagen synthesis defect. The most severe phenotype type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity mortality. Also, multilevel spine deformities are observed, such as scoliosis. literature on the pathophysiology impairment in relation to scoliosis these patients scarce conflicting. This study aims determine prevalence its...
Alkaptonuria is a rare inherited autosomal recessive disorder resulting in large joint osteoarthritis with black discoloration of the cartilage. The glenohumeral third most affected joint. Two cases ochronotic shoulder arthropathy three replacements are presented. Stemless arthroplasty was implanted moderate to good results up 2 years follow-up regarding pain and range motion.
Optimal collaboration between general practice and hospital care is crucial to maintain affordable sustainable access healthcare for the entire population. General practitioners (GPs) are gatekeepers specialist patients will visit hospitals mostly only after referral. However, a substantial part of these referrals may be inappropriate, as communication GPs medical specialists can challenging referring most obvious action GP perform.A new digital platform (Prisma) connects in...
Tibial fractures are the most common seen in adults and lead to nonunions. Osteogenesis imperfecta (OI) is characterized by increased bone fragility higher risk of fractures. No studies have been published on incidence tibial nonunions with OI. This study aims summarize this population.A retrospective, descriptive study. All medical charts adult patients OI database our expert clinic were analyzed for between 2008 2020. fracture incidence, nonunion rate, treatment modality potential factors...