Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.
There are three different types of musculoskeletal disorders that effect the spinal column: Lordosis, Kyphosis, and Scoliosis. Scoliosis effects the largest amount of people and also effects the widest range of ages. There are three different types of scoliosis and they are categorized by the age at which the deformity developed. Infantile scoliosis develops from birth to 4 years old, juvenile scoliosis develops from 4 to 9 years old, and adolescent scoliosis develops from 10 to 18 years. Scoliosis is most commonly developed in the adolescent stage, it compromises approximately 80 percent of all scoliosis cases (Baaj, 2017). Any
. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273
Moore, S. W. (2009). Developmental genes and cancer in children. Pediatric. Blood Cancer, 52(7), 755-760. doi:10.1002/pbc.21831. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/19165888
The first study published (Videman, et al., 1998) was involved monozygotic twins in Finns, with alleles of the TaqI and FokI polymorphism being associated with reduced magnetic resonance imaging signals of thoracic and lumbar discs. Another more recent study which confirmed the previous study was based on 205 Japanese volunteers and patients between age 20 and 29 years. From this study was found that Tt genotype of the TaqI polymorphism were more frequently associated with multilevel disc disease, severe disc degeneration and disc herniation than the TT genotype (Kawaguchi et al., 2002). In addition, influence of TaqI polymorphism to lumbar degenerative disc disease verified in Chinese population (Cheung, et al., 2006). The fact that replication of TaqI polymorphism was appeared in three different populations makes VDR as the most robust of genes associated with disc degeneration disease. The reason for this is not clear but a possible explanation is based on the fact that the polymorphism can affect the receptor level and function of vitamin D. Based on the fact that vitamin D influence the sulphate metabolism which is important for sulphation of glycosaminoglycans (GAGs) during proteoglycan synthesis, the latter can lead to changes in the structural characteristic of the extracellular matrix in the intervertebral
In 1995 a French group of researchers discovered that SMA is autosomal recessive disorder due to loss of the survival motor neuron protein gene (SMN) (Lefebvre et al., 1995). Through experimentation the researchers discovered two copies of the SMN gene in chromosome five [chr 5q13.2]: telomeric and centromeric SMN copies. Experimentation proved that loss of the telomeric SMN (today known as SMN1) and not loss of its centromeric counterpart, SMN2, resulted in SMA.
Untreated, scoliosis progressively impacts one's life, especially through puberty's growth spurts. Scoliosis stunts growth and puts dangerous pressure on vital organs, such as the heart, liver, and lungs.
According to Merriam Webster’s Medical Dictionary, “body image” is defined as “a subjective picture of one's own physical appearance established both by self-observation and by noting the reactions of others.” Body image has been a controversial issue across the globe since it became defined, but has since become most prominent within the most recent years. Many struggle with the issue but most of the people affected by it are women, myself included. Going hand-in-hand with this, the number one cause of body image issues are medical conditions or irregularities. Both of these pertain to me in particular because I live my life as one of the many people affected by scoliosis.
1. We discovered 2029 SNPs at P < 5 ×10-8, and after clumping based on GERA genotypes information, there were 48 independent loci significantly associated with T2D (Supplementary Table 1). The most significant association in this meta-analysis was rs7903146 located at TCF7L2 in chromosome 10 (P=5.17 × 10-142), which was previously reported by many studies(5-9). Out of these 48 loci, we used a more stringent threshold and 3 loci (MBNL1, C5orf67 and HORMAD2-AS1) were newly identified at P < 1 × 10-8. Meta-analysis results of these 3 loci and in each individual cohort were shown in Table 1. Genome-wide P values of association results across all chromosomes were displayed in Figure 2. To get more about the loci information and provide fast visualization of meta-analysis results, we plotted locus zoom(10) of three novel loci (Supplementary Figure
Scoliosis is a three-dimensional distortion of the chest cage, which typically produces a reduction in pulmonary function, caused by stiffness of the chest wall and decrease in the force of the respiratory muscles (8). However, the current study showed a negative relationship between the degree of Cobb angle, which indicates spinal deformity, and pulmonary function although the relationship was not statistically significant. An inverse relationship between spinal deformity and pulmonary function has been reported by a few studies. Vitale et al. found that the degree of thoracic curves was negatively correlated with FEV1. There was also a trend toward significant negative correlations between thoracic curves and FVC. Patients with larger
Scoliosis is a complex deformity or curvature of the spine and entire torso and has been recognized clinically for centuries (Asher, Marc A.). “For a few of the patients an underlying cause can be determined, including congenital changes, secondary changes related to neuropathic or myopathic conditions, or later in life from degenerative spondylosis. However, the cause of most scoliosis is not known and since about 1922 such patients have been diagnosed as having idiopathic scoliosis (Asher, Marc A.).”