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.

Bone microarchitecture and strength assessment in adults with osteogenesis imperfecta using HR-pQCT: normative comparison and challenges.

Data on bone microarchitecture in osteogenesis imperfecta (OI) are scarce. The aim of this cross-sectional study was to assess bone microarchitecture and strength in a large cohort of adults with OI using high-resolution peripheral quantitative computed tomography (HR-pQCT) and to evaluate challenges of using HR-pQCT in this cohort. Second-generation HR-pQCT scans were obtained at the distal radius and tibia in 118 men and women with Sillence OI type I, III, or IV using an extremity-length-dependent scan protocol.

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.

Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta.

Purpose: Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality.

Durability of Cement and Ash Mortars with Fluidized and Siliceous Fly Ashes Exposed to HCl Acid Environment over a Period of 2 Years.

The paper presents results of research on the impact of fly ash from fluidized bed combustion (FBC) of lignite, used in quantities of 30 and 45% by mass, and the mixture of FBC and silicious fly ash in amount of 45% by mass, on properties of cement-ash mortars. Mortars were exposed to aggressive environment of 1, 3, and 5% HCl solutions for 2 years. Mortars containing 45% FBC exposed to 1% HCl solution (pH = 2) showed the highest durability from among other mortars.

Lightweight Reactive Powder Concrete Containing Expanded Perlite.

This paper presents the test results of the lightweight concrete properties obtained by adding expanded perlite (EP) to an RPC mix in quantities from 30% to 60% by volume of the concrete mix. It has been shown that in these cases it is possible to obtain concrete containing 30% by volume with density of approximately 1900 kg/m and the compressive strength > 70 MPa, with a very low water absorption value (3.3%), equal to the water absorption value of RPC without lightweight aggregate (3.

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.

Specificity and sensitivity of INI-1 labeling in epithelioid sarcoma. Loss of INI1 expression as a frequent immunohistochemical event in synovial sarcoma.

INI1 antigen is a product of the INI-1/SMARCB1 gene localized on chromosome 22q. It is well known that INI1 gene inactivation or loss of INI1 antigen expression is observed in epithelioid sarcomas; however, there are only few reports concerning specificity and sensitivity of immunohistochemical INI1 labeling as a marker of this neoplasm. That is why we decided to test 99 soft tissue sarcomas for the presence of the INI1 gene product.

Primary carcinoid tumour in horseshoe kidney.

Primary renal carcinoid tumours are extremely rare. To date, approximately 60 cases have been reported, mostly as case reports with only few series noted. The pathogenesis of this tumour is uncertain because neuroendocrine cells are not found in normal adult renal parenchyma.

Provocative mesenteric angiography for lower gastrointestinal hemorrhage: results from a single-institution study.

Purpose: To determine the diagnostic capability, complication rate, and potential predictors of success for provocative mesenteric angiography in patients with obscure and recurrent lower gastrointestinal (GI) hemorrhage.

Materials And Methods: Thirty-four patients (age, 7-92 years; 22 men) underwent 36 provocative mesenteric angiograms between January 2002 and December 2008. Provocative mesenteric angiography consisted of systemic anticoagulation with heparin followed by selective transcatheter injection of vasodilator and tissue plasminogen activator into the arterial distribution of highest suspicion.

[Chagas disease: screening tests evaluation in a blood military center, prevalence in the French Army].

Chagas disease is a major public health problem in Latin and Central America, 15 to 20 million people are affected and some 100 million is at risk of acquiring Chagas disease. Chagas disease starts to appear in amazonian area and french Guyana. Three kits: Elisa Novagnost (Dade Behring), BioElisa Chagas (Orgentec) et Elisa Cruzi (BioMérieux) were compared using performance panel.

[One case report of anti-JK1 antibody undetected on plasma sample].

The sensitivity of the detection of irregular antibodies (DIA) is one of the fundamental bases of transfusion safety. Its implementation is specified in accordance with a very specific framework that allows the use of serum or plasma. The case reported here points out a failure to detect irregular antibodies in plasma sample.

[Blood transfusion security: one train may conceal another!].

The discovery of antibodies with specificities that are directed toward antigens of high prevalence is a difficult situation to manage in emergency blood transfusion. The reactions they produce interfere with the identification of reactions due to other, clinically significant antibodies. We report a case which illustrates this problem in terms of transfusion safety and time to carry out the tests.