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Rheumatic Disease
Published in John S. Axford, Chris A. O'Callaghan, Medicine for Finals and Beyond, 2023
Osteogenesis imperfecta can be classified into four types using clinical and inheritance pattern criteria. All are characterized by bone, ocular, dental, aural and cardiovascular involvement, and brittle bones, to a varying degree. Limbs may be short and bent at birth. Blue sclera and deafness may also be features. The diagnosis can usually be made clinically (Figure 4.37).
Vascular Disorders
Published in Genesio Murano, Rodger L. Bick, Basic Concepts of Hemostasis and Thrombosis, 2019
Osteogenesis imperfecta (brittle bones and blue sclerae) is one of the more common hereditary collagen vascular diseases and is inherited as an autosomal dominant trait.6 The disorder is characterized by a patchy lack of bone matrix. However, the matrix that does exist undergoes normal calcification. Osteogenesis imperfecta is clinically manifest as deformed and brittle bones that fracture easily. In addition, skin and subcutaneous hemorrhages are characteristic. Death commonly occurs at childbirth due to intracranial hemorrhage caused by an abnormal calvarium coupled with a vascular hemorrhagic diathesis. Easy and spontaneous bruisability, hemoptysis, epistaxis, and intracranial bleeding are common in osteogenesis imperfecta. An abnormal bleeding time and a positive tourniquet test are characteristic.7 In addition, many cases have been described with abnormal platelet function, as defined by adhesion and aggregation studies. The basic pathophysiology of osteogenesis imperfecta appears to be related to the inability of reticulin to mature into collagen. In addition, the collagen present demonstrates an abnormal amino acid composition.4
Precision medicine in osteoporosis and bone diseases
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Fatmanur Hacievliyagil Kazanci, Fatih Kazanci, M. Ramazan Yigitoglu, Mehmet Gunduz
Osteogenesis imperfecta is a clinically and genetically heterogeneous group of connective tissue disorders. As well as low BMD and fractures, extraosseus connective tissue symptoms are seen in patients with osteogenesis imperfecta. The International Working Group on Constitutional Disorders of Bone divided the known osteogenesis imperfecta types into five main groups on the basis of the specific clinical features and severity of the disease. Despite the increasing number of known disease-causing genes, the large majority of the cases (∼90%) is due to mutations in collagen, type I, alpha 1 (COL1A1); and collagen, type I, alpha 2 (COL1A2) genes (van Dijk et al., 2012).
Soluble guanylate cyclase stimulators and their potential use: a patent review
Published in Expert Opinion on Therapeutic Patents, 2021
Peter Sandner, Alexandros Vakalopoulos, Michael G. Hahn, Johannes-Peter Stasch, Markus Follmann
DMD is a monogenetic disorder affecting 1 in 5000 boys. The lack of dystrophin leads to progressive muscle wasting, physical and cognitive disability, and substantially reduced life expectancy mainly due to cardio-respiratory failure. Like in CF and despite multiple efforts for cell- and gene-based therapies there is still no cure for DMD. It was shown that sGC modulation improves diaphragm function in mice with muscular dystrophy (mdx-mice), suggesting beneficial effects on respiratory function in DMD (WO2014190250) [73]. In addition, sGC modulation increased the physical activity and also heart function, as assessed by cardiac hemodynamics. In addition, it was demonstrated that sGC agonists could increase muscular blood flow in mdx mice (WO2015106268) [74]. Osteogenesis Imperfecta (OI)
Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review
Published in Annals of Medicine, 2021
S. Storoni, S. Treurniet, D. Micha, M. Celli, M. Bugiani, J. G. van den Aardweg, E. M. W. Eekhoff
Acute and chronic respiratory failure are major causes of death in patients with Osteogenesis Imperfecta. Aberrant type I collagen causes bone demineralization, deformities, and fractures, which in turn results in structural abnormalities of the chest wall and spine, limiting the pulmonary function. Treatment of Osteogenesis Imperfecta focuses on preventing fractures and correcting bone deformities, but the pulmonary disease is often ignored until breathing problems become severe. Type I collagen is found in many connective tissues, including the interstitial parenchyma of the mammalian lung. The question that arises is to what extent abnormal collagen contributes to the decreased pulmonary function of patients with OI. We performed a systematic review to examine all available knowledge on the pathogenesis of lung disease in OI.
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders
Published in Disability and Rehabilitation, 2020
Caroline Elfassy, Vasiliki Betty Darsaklis, Laurie Snider, Cynthia Gagnon, Reggie Hamdy, Noemi Dahan-Oliel
The major need expressed by clinicians was a lack of interventions and evaluations specific to AMC, as they felt they could not address the real issues without an AMC specific tool and evidence-based treatment recommendations. This similar view was expressed in the study conducted by Hill et al. [27] in which clinicians expressed the need for a condition-specific quality of life measure in order to properly assess youth with osteogenesis imperfecta. The development of a standardized outcome measure specific to children with AMC would allow clinicians to accurately and consistently describe the functional status of children, evaluate patient changes over time, guide surgical and non-surgical (i.e., splinting and stretching) treatment planning, and determine treatment effectiveness. Based on the current needs identified by the three key stakeholder groups, this study suggests that rehabilitation practice recommendations be developed collaboratively with youth with AMC and their caregivers, together with clinicians. Future steps will include a series of focus groups, one with clinicians, one with youth and caregivers and one joint session to validate the priorities and the achieve consensus for practice recommendations. These practice recommendations will ultimately promote consensus-based, coordinated and equal services delivered to children with AMC and their families. As well, a standardized evaluation and treatment process for AMC may support shared communication and best practice among rehabilitation providers in the education, healthcare, community and private sectors.