In addition to my genetics major, I signed up for biological anthropology classes and soon learned that anthropology could bring all those molecular lessons to life. However, upon taking an actual class, I discovered that genetics was challenging. I initially declared a genetics major because I thought it sounded cool. I started my Bachelor’s degree in 2003, which was the same year the Human Genome Project released its first draft sequence. Discuss challenges to and bioethical concerns of genetic testing.Explain complexities surrounding patterns of genetic inheritance and polygenic traits.Use principles of Mendelian inheritance to predict genotypes and phenotypes of future generations.Outline the process of protein synthesis including transcription and translation.Identify key differences between mitosis and meiosis.Explain and identify the purpose of both DNA replication and the cell cycle.Define terms useful to molecular biology and genetics.(2017) The application of clinical genetics. Maple syrup urine disease: mechanisms and management. Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. Reddy N, Calloni SF, Vernon HJ, Boltshauser E, Huisman TAGM, Soares BP. Imaging in neonatal maple syrup urine disease. Imaging in classic form of maple syrup urine disease: a rare metabolic central nervous system. Diffusion-weighted magnetic resonance imaging in a case of severe classic maple syrup urine disease. MR spectroscopy: single-voxel proton MR spectroscopy may show the presence of branched-chain amino acids and branched-chain alpha-keto acids resonating at 0.9-1.0 ppm, especially during a metabolic crisis 1,2.DWI: the posterior limbs of the internal capsules and optic radiations and the central corticospinal tracts within the cerebral hemispheres exhibit high diffusion signal.predominantly in the cerebellar white matter, cerebral peduncles, dorsal brainstem, posterior limb of the internal capsule, thalami, globe pallidi, and perirolandic cerebral white matter 8.vasogenic oedema: usually due to disruption of the blood-brain barrier during an acute metabolic crisis or decompensation 8.intramyelinic oedema: believed to be from myelin splitting due to accumulation of branched-chain key acids and water molecules between layers of myelin 8.MRI brain may show the characteristic pattern of oedema present in MSUD. There is elevated plasma concentrations of branched-chain amino acids (leucine, isoleucine, and valine), allo-isoleucine, and alpha-ketoacids. It is inherited in an autosomal recessive pattern and various different genes have been implicated 1. Maple syrup urine disease is due to mutations in any aspect of the mitochondrial branched-chain alpha-keto acid dehydrogenase complex 8.
Intermittent forms of the disease may present later (5 months to 2 years of age) and can be precipitated by concomitant infection or a high protein intake 8. characteristic odour of maple syrup in the urine or cerumen.It usually manifests itself within the first week of life with 8:
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