what two procedures are typically used to treat G.L condition? Pacemaker, or medications such as ACE inhibitors, beta blockers, and calcium channel blockers. 3 vessels case…
Most of which are portrayed in the film. Adrenoleukodystrophy is passed down from the parents to their children as an X-linked genetic trait. Therefore, it affects mostly males, although some women who are carriers can have milder forms of the disease. Treatment for ALD is simple, Lorenzo's oil can help give the body the longer chain of fatty acids. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.…
Mutations in TRAPPC9 have been identified in patients with Non-Syndromic Autosomal Recessive Mental Retardation (NS-ARMR). These mutations were characterized in separate families of Middle Eastern Arab descent. One separate case involves three consanguineous Israeli Arab girls carried a TRAPP9 truncation (c.1422C>T)156. The second case was identified in a large consanguineous Pakistani family193, patients were characterized with a nonsense mutation R475X in exon 7. Another mutation that resulted in a frameshift and premature truncation causing p.Leu772TrpfsX7 was caused by a homozygous 4bp deletion: c.2311-2314 delTGTT has been identified in Iranian family166.…
Study identifies genetic mutations associated with tumor of adrenal gland. ScienceDaily. Retrieved October 12, 2015 from www.sciencedaily.com/releases/2010/12/101214181239.htm Karasek, D., Shah, U., Frysak, Z., Stratakis, C., & Pacak, K. (2013). An update on the genetics of pheochromocytoma. Journal Of Human Hypertension, 27(3), 141-147.…
Addison disease is a rare primary adrenal insufficiency, or progressive anemia, affecting those between the ages of 30-60 years old, but has been known to manifest at any time. There is an autoimmune mechanism that works to destroy adrenal cortical cells. It is characterized by insufficient corticosteroid and mineralocorticoid synthesis with elevated levels of serum ACTH. Idiopathic Addison disease, or organ-specific autoimmune adrenalitis, is an organ specific autoimmune disease that causes adrenal atrophy. It allows for the production of immunocytes against specific antigens within the adrenocortical cells.…
Adrenal insufficiency so called Addison Disease is an endocrine condition defined as the inadequate production or action of glucocorticoids, principally a steroid hormone called cortisol. The adrenal insufficiency is a rare condition in childhood, but it carries the risk of adrenal crisis in the event of a child becoming unwell as a result of intercurrent illness, injury or surgery. Pathophysiology The adrenal glands have many functions contributing to homeostasis in the body. This is one of the most important glands in the human body.…
Integumentary Disease: Phenylketonuria Skin diseases vary from case to case, whether it is a common case or a rare case, like phenylketonuria. Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a negative body affliction causing inability to metabolize the amino acid phenylalanine. The disease can cause Mental health issues as well as others because of the excess of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, called tyrosine, it can create other enzyme routes that build up in the bloodstream and in body tissue. This is EXTREMLY harmful to both the body and the development of it.…
Lesch- Nyhan Syndrome Kayla Lester Virginia Western Community College Abstract Lesch-Nyhan syndrome is a genetic disease that is inherited from an offspring’s mother. A patient is typically diagnosed between the ages of three to six months with Nyhan’s syndrome. Since this is such a rare disease there is only a one in three hundred and eighty thousand chance a person would be diagnosed with this disease. It is equally seen in all ethnic group but it is more likely for males than females due to the mutation being linked to an X-chromosome.…
Sotos syndrome is a disease that causes a child to grow unusually rapidly, especially in the cephalic region, resulting in abnormal growth of the brain and a corresponding array of developmental disabilities (Türkmen et al., 2015; Faravelli, 2005; McKusick, 2015). This disorder is an autosomal dominant disorder (McKusick, 2015) and has been found to be a result of mutations in the NSD1 gene (Türkmen et al., 2015; Faravelli, 2005; McKusick, 2015), on the chromosome 5q35 (Faravelli, 2005; McKusick, 2015). There are over 100 mutations that have been found in the NSD1 gene, with all of them occurring de novo and at no specific spot in the gene (Faravelli, 2005). NSD1 contains 8088 base pairs, 23 exons, and translates into a protein that is 2696 amino acids long (Faravelli, 2005). This gene, along with the rest of the NSD family, have been found to be strongly linked to cell growth and differentiation (Faravelli, 2005).…
Introduction Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder also know as phenylketonuria (PKU). (1,2,3) This disease results from mutations in the phenylalanine hydroxylase gene, making the body unable to utilize the amino acid phenylalanine properly. (1) Phenylalanine hydroxylase converts phenylalanine to tyrosine. Without adequate phenylalanine hydroxylase levels, phenylalanine accumulates which can lead to toxic levels in the blood.…
Regardless of the option taken, women often experienced intense grief reactions. Both giving birth to a child with life-limiting condition and termination of pregnancy for fetal anomaly can be traumatic life events both associated with psychological morbidity. Parents feel emotional pain and suffering, loss of opportunities, loss of freedom, isolation, loneliness, fear, guilt, stigmatization, financial expenses. Parents are also harmed by their unfulfilled expectation with the birth of an impaired child. Parents of a child with unwanted…
Background Neurodevelopment is defined as “the dynamic inter-relationship between genetic, brain, cognitive, emotional, and behavioral processes across the developmental lifespan [1].” Neurodevelopmental disorders are defined as a group of conditions caused by damage to the neurological development process which cause long term delays in development. These disorders normally begin in infancy, when development is most crucial, and remain fairly consistent throughout adulthood. Neurodevelopmental disorders include but are not limited to the following: autism spectrum disorder (ASD), Rett Syndrome (RTT), developmental coordination disorder (DCD), cerebral palsy, intellectual disabilities (ID), attention-deficit/hyperactivity disorder (ADHD),…
Developmental psychopathology Developmental psychopathology is “a perspective that in order to comprehend disorders in their full complexity it is necessary to possess an understanding of the organization and integration of biological, psychological, and social systems at multiple levels of analysis, within individuals across different contexts and varying developmental periods” (Cicchetti, 2006) demonstrating the multidisciplinary approach. The approach is characterised with three concepts the “investigation of both normal and abnormal development” as comparisons across both allows allows a holistic perspective as looking only at abnormal development is limited in its nature. The role of “divergent pathways from risk factors to end point”, as it is seen that the same risk factors can result in differing outcomes…
Although treatment with medication has shown positive feedback, there are other forms of…
These treatments include group therapy, PRN medications, exercise, and electroconvulsive therapy. For group therapy, the results showed that the type…