Osteogenesis Imperfecta Essay

The risk of fractures among individuals arises from reduced bone density, disuse osteoporosis, the odd mineralization of extracellular matrix and an altered geometry of the bone which results to short oblique patterns in most cases (Nicolaou, Agrawal, Padman, Fernandes, & Bell, 2012). Fractures that occur in the lower limbs are especially femoral fractures which are mainly common because of their load-bearing nature during normal gait patterns (Mughal, Dix-Peek, & Hoffman, 2013). It often becomes easy to diagnose the condition based mainly on its clinical features. Thus, clinicians are able to perform DNA tests to help ascertain the diagnosis of Osteogenesis Imperfecta in certain situations. Such tests normally take a few weeks before the results come out. Limb-length disparities may cause joint abnormalities which normally impact the accuracy of the clinically determined disparity of the limb-length.

These tests are important in determining the safety of the patients by examining their standing instability (Graf, Krzak, Caudill, Flanagan, Smith, & Harris, 2016). This is because external rotation plays a major role in the development and completion of the young patient's gross motor skills. Thus, the tests help in providing a quantitative assessment of the patient's physical abilities which is a part of the detailed functional evaluation of the child living with osteogenesis imperfecta (Graf et al. Furthermore, the information gained from such tests helps in ensuring that appropriate treatment decisions are reached as well as help in tracking the progress of the patient over time. Bisphosphonates are more powerful that etidronate in minimizing disease activity as well as restoring the alkaline phosphatase levels to normal.

In addition, the patient is required to have a high intake of vitamin D as well as a regular dietary intake of calcium which may be derived from an ordinary diet or through Vitamin D or calcium supplements (Monti et al. However, the decision of beginning the administration of bisphosphonates or growth hormone treatment should be assessed in each case. The patient should also observe a detailed follow-up protocol that provides an assessment of her biochemical and clinical condition. Such follow-up may observe the amount of calcium intake, fractures, and clinical symptoms linked to the condition such as respiratory or skeletal symptoms and physical activity of the patient. Following a lower extremity surgery, water serves as an effective medium of treatment.

This allows the patient to walk while experiencing mild pain since water reduces load bearing (Monti et al. Additionally, the natural resistance of water may help in enhancing muscle strength. Furthermore, it is important to maintain proper muscle tone and perform respiratory exercises among younger patients with OI. In water exercises such as swimming may be specified to the patient to help enhance her sense of balance and due to the lack of weight, to help achieve an impossible movement. d) Nursing interventions for both acute and chronic diagnoses of osteogenesis imperfect include genetic counseling, diet, and activity. In genetic counseling, the nurses provide the parents of the child with counseling on the genetics of the disease (Sillence, Senn, & Danks, 1979). Such counseling sessions provide a platform for germline mosaicism to be discussed since it the mechanism believed to be responsible for some of the patients suffering from the new dominant mutation (Belleza, 2017).

Also, the nurses encourage their patients to consume foods that rich in vitamin D, calcium and phosphorous. Besides, they encourage them to the proper management of their caloric intake. All these may result in serious intraoperative bleeding as well as slow oozing following the operation (Yamada, Okada, Honda, Miyagi, Ono, Morimoto, & Taketomi, 2012). Clotting anomalies in OI normally occur within the period of platelet plug formation. Following an injury to a blood vessel, it should be able to constrict thereby allowing the formation of a platelet plug (Karaveli et al. However, exposed collagen usually attracts platelets which may, in turn, result in the release of adenosine diphosphate which leads to further aggregation of the platelets. Also, an anomaly in the response of the platelets may hinder effective clotting process from taking place consequently leading to excessive bleeding.