Management Nursing in Society

Question: Describe about the Nursing in Society? Answer: Osteogeneis imperfecta (OI) is also termed as Lobstein syndrome or brittle bone disease. It is said to be an inborn bone disorder, illustrated by fragile bones, which are prone to breakage (Shapiro et al., 2013). It is estimated that almost 20,000-50,000 individuals are affected with this disease in the United States, as per the OI foundation (Oif.org, 2015). The characteristic attributes of this disease vary significantly from one individual to another (Fisher, 2008). There are mainly four different types of OI is present, out of which the type I OI represents almost 85-90% of affected individuals, which is caused by dominant mutation within the gene responsible for the coding of collagen type I. The responsible genes are COL1A1 and COL1A2 (Vinson, 2009). This information could definitely help the recent mothers, who have delivered babies with OI, to understand the commonness of this disease. Not only that, the mothers can use the leaflet as a short overview to understand the concep t associated with this disease and thus can further plan for their babies appropriate treatment (Van der Merwe, 2006). Gauba and hartgerink (2008) illustrated the structure of a new model system depend on collagen heterotrimers which can mimic glycine mutations present in alpha 1 or 2 chains of collagen type I (Gauba and Hartgerink, 2008). They have reported that the collagen mutants incorporate glycine 1 or 2 substitutions with organizations pertinent to local forms of Osteogeneis imperfecta. On the other hand Makareeva et al. (2007) have mapped and measured the alterations in collagen melting temperature for Osteogeneis imperfect patients. They have delineated the regional differences within the collagen helix stability (Makareeva et al., 2007). Scientist Brussel et al. (2008) have illustrated the importance of physical training among the children with osteogenesis imperfecta (Van Brussel et al., 2008). They have studied effectiveness of physical training program on muscle force, exercise capacity and fatigue level in osteogenesis imperfecta affected patients. They have stated that supervised train ing programs can modify muscle force, aerobic capacity and diminish fatigue level among the children affected with osteogenesis imperfecta type I and IV in an effective and safe manner. Scientists Forlino et al. (2011) have suggested that regular exercise with correct intensity is significant for developing OI related fitness among the children (Forlino et al., 2011). On the other hand, Semler et al. (2007) have focused on whole body vibration in immobilize children (Semler et al., 2008). They have recommended that whole body vibration technique might be a challenging approach over physical exercise to develop the mobility in motor impaired OI affected children. Scientist Peng et al. (2015) have illustrated the cause of OI and they have explained that it is cause by novel mutation within the start codon of COL1A1 gene (Peng et al., 2012). They have reported a patient case, which was healthy during the birth and did not suffer from any fractures until 1year of age. They have noticed frequent fractures, blue sclera with no corresponding trauma, almost normal structure, without any bony deformity, absence of dentinogenesis imperfecta and without any restriction of patient mobility. They have mentioned that these features represented type I OI. It was also founded that the mother of this patient had blue sclera and history of frequent fractures until her 15years of age. In this relation the scientists have found disruption of start codon [ATG TO AGG (Met1Arg)] of COL1A1 gene by a missense mutation (c.2TG). So from this journal the concepts: whether OI is inherited, causes of OI. Indication of this disease can be supported. On the other hand, scientist Gerard (2014) has detailed diagnosis, therapy and prognosis of this disease (Gerard, 2013). They have mentioned that indications include bone fragility, scoliosis, blue sclera, hearing loss, increased laxity of skin and ligaments, skull deformities and stunted growth. These indications can be used as the support of the OI symptoms mentioned in the leaflet. The researchers have also stated that apart from the clinical diagnosis, genetic testing or skin biopsy can be immensely helpful. Nevertheless, they have also mentioned that negative results never exclude OI. They have suggested that therapy need to be accomplished in a multidisciplinary team and should comprise operative, conservative and pharmaceutical procedures. The prognosis of this disease relies on the type of brittle bones and varies from standard life expectations for OI type I sufferers up to peri-natal mortality for OI type II patients. Scientist Rahman and Begum (2014) have focused on a case report of a 15years old male patient who was admitted to a hospital because of undergoing repeated fractures over the past three years, mostly because of overexertion or falling down (Rahman and Begum, 2014). His radiological features and clinical signs: low bone mineral density, recurrent fractures and blue sclera led to the conclusion of a temperate form of type I OI. The Brittle bone society have mentioned about the management of OI affected babies in different conditions, for example: while changing nappy, feeding, dressing, bathing and positioning (Brittlebone.org, 2015). It is said that the shape of the head of a baby is effortlessly altered, which is important for birth and this is much expected to take place in an OI affected infant. To support good shape of the head, the mothers need to be taught alternate side head rotations, to avoid constant pressure at the back of the head. A physiotherapist or a certified expert from NMC can assist the mothers with this type of activity. Scientiss El-Adl et al. (2015) have illustrated a study on telescoping versus non-telescoping rods in osteogenesis inperfecta treatment (El-Adl G, 2015). They have studies 10patinets with 33lower limb segments. Thye have used two different surgical techniques: Lang-Stevenson and Sharrard and Sofield and Miller for the insertion of rod. All these incidences were evaluated medically about limb- strength, growth, infection, re-fracture and mobility status. The overall complication rate associated with rod implant was more with non-telescoping rods and less with telescoping rods. Outgrowing of bone and rod breakage along with fracture was also higher with non telescoping rods. They have concluded from this comparative study that outcomes were better after Sheffield rods with reference to rod longevity, complication frequency and mobility status. This article supports the treatment concept mentioned in the leaflet. References Bersellini, E. and Berry, D. (2007). The benefits of providing benefit information in a patient information leaflet.International Journal of Pharmacy Practice, 15(3), pp.193-199. Brittlebone.org, (2015).Home. [online] Available at: https://www.brittlebone.org/ [Accessed 27 Feb. 2015]. El-Adl G, e. (2015).Telescoping versus non-telescoping rods in the treatment of osteoge... - PubMed - NCBI. [online] Ncbi.nlm.nih.gov. Available at: https://www.ncbi.nlm.nih.gov/pubmed/19492559 [Accessed 27 Feb. 2015]. Fisher, J. (2008).Brittle bones. Cambridge: Salt Pub. Fletcher, H. (2010). A collaborative approach to producing a patient information leaflet.International Journal of Ophthalmic Practice, 1(2), pp.74-79. Forlino, A., Cabral, W., Barnes, A. and Marini, J. (2011). New perspectives on osteogenesis imperfecta.Nat Rev Endocrinol, 7(9), pp.540-557. Gauba, V. and Hartgerink, J. (2008). Synthetic Collagen Heterotrimers: Structural Mimics of Wild-Type and Mutant Collagen Type I.J. Am. Chem. Soc., 130(23), pp.7509-7515. Gerard, P. (2013). Osteogenesis imperfecta.Bone Abstracts. Makareeva, E., Mertz, E., Kuznetsova, N., Sutter, M., DeRidder, A., Cabral, W., Barnes, A., McBride, D., Marini, J. and Leikin, S. (2007). Structural Heterogeneity of Type I Collagen Triple Helix and Its Role in Osteogenesis Imperfecta.Journal of Biological Chemistry, 283(8), pp.4787-4798. Oif.org, (2015).Fast Facts - Osteogenesis Imperfecta Foundation | OIF.org. [online] Available at: https://www.oif.org/site/PageServer?pagename=fastfacts [Accessed 27 Feb. 2015]. Peng, H., Zhang, Y., Long, Z., Zhao, D., Guo, Z., Xue, J., Xie, Z., Xiong, Z., Xu, X., Su, W., Wang, B., Xia, K. and Hu, Z. (2012). A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.Gene, 502(2), pp.168-171. Rahman, R. and Begum, S. (2014). Osteogenesis imperfecta: a case report.Bangladesh Medical Journal, 43(1). Semler, O., Fricke, O., Vezyroglou, K., Stark, C., Stabrey, A. and Schoenau, E. (2008). Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta.Clinical Rehabilitation, 22(5), pp.387-394. Shapiro, J., Byers, P., Glorieux, F. and Sponseller, P. (2013).Osteogenesis Imperfecta. Burlington: Elsevier Science. Van Brussel, M., Takken, T., Uiterwaal, C., Pruijs, H., Van der Net, J., Helders, P. and Engelbert, R. (2008). Physical Training in Children with Osteogenesis Imperfecta.The Journal of Pediatrics, 152(1), pp.111-116.e1. Van der Merwe, E. (2006).Template for a needs-based patient information leaflet. Vinson, V. (2009). BIOMEDICINE: Brittle Bones.Science, 323(5920), pp.1406c-1406c.