Phenylketonuria is a rare genetic disorder caused by an inborn error in aromatic amino-acid metabolism resulting a lack of mental abilities and developmental changes. Phenylketonuria is an autosomal-recessive inherited metabolic disease in which excessive accumulation of phenylalanine occurs which further leads to neurological impairment. In this paper we report a case of a one-year-old child born with the consanguineous parent with distinct amino acid analysis and radiological findings.…
Annotated Bibliography Henna Awan Florida State College at Jacksonville HSC4730 Dr. James Stittsworth 10/11/2015 Roher, A. E., Cribbs, D. H., Kim, R. C., Maarouf, C. L., Whiteside, C. M., Kokjohn, T. A., et al. (2013). Bapineuzumab alters aβ composition: implications for the amyloid cascade hypothesis and anti-amyloid immunotherapy. PLoS ONE, 8(3), e59735. doi:10.1371/journal.pone.0059735 The neurological changes related to Alzheimer's disease (AD) heavily support the amyloid cascade…
PhD in Immunology & Microbiology, says, “research has found that when CD patients were put on a gluten-free diet, after six months only 8% of these patients had reversal of villous atrophy. An additional 65% of patients showed 50% improvement” (Vojdani 2), he proves that the restricting wheat prevents villous atrophy, which is the destruction of the human gut. This research points towards gluten being the culprit for celiac disease…
AP is an active and pleasant 12 months old infant, who is well dressed and appears to be clean. He plays with variety of toys at home. He seems very closely bonded with his mother. He sits in her lap for comfort. His mother is relaxed and have no complaints. Vital Signs: HR 105 regular, RR 30 breath per minute, BP 92/60mmHg. Temperature is 99.4 F. He is 31 inches tall (90.3 percentile). He weighs 22.5 lbs. (72.6 percentile). Head circumference is 43.5 cm (61.8 percentile). BMI is 16.5. No…
Have you ever played a sport? Have you ever rode a bike? Have you ever walked to the nearest McDonald’s? Everything previously listed is exercise! Exercise is a needed part of everyone’s daily life. Without exercise, it could lead to major consequences; today, I’m here to discuss everything you need to know about exercise. Exercise benefits our body more than you’d think. Many reasons are providing on Teens Health’s Why Exercise is Wise. First of all, exercise benefits every part of the bod.…
respiration. Since egg cells, but not sperm cells, keep their mitochondria during fertilization, mitochondrial DNA is always inherited from the female parent. An example of this type of inheritance disorder is an eye disease called Leber’s hereditary optic atrophy, and also a type of epilepsy, called MERRF. These are just some of the types of inherited disorders, but there are so many more disorders not yet discovered, or some disorders that are pending to have a solution…
effectiveness of workplace stretching. “Their muscles become stiff and it is highly recommended that they take a five to fifteen minute break stretching about every hour. ( Graham). This is quintessential because the stretches help to prevent stiffness and atrophy in the muscles mitigating injury as well. But, in the long term it helps to avoid musculoskeletal diseases that will occur during aging if not maintained. “On average, $5 is spent for every $1 of medical expense on a typical injury.…
My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA. There are three forms of SMA affecting children before the age…
traumatic experience or neglect within the first three year of life can alter the brain. Neglected children have smaller brains compared to children who have not experienced trauma (Perry & Szalavitz, 2008). Neglected children’s brain scans show atrophy similar to patients with advanced Alzheimer’s disease (Perry & Szalavitz, 2008) (see appendix Figure 1 & Figure 2). Figure 1. brain scans depict a shrunken cerebral cortex and the enlargement of fluid filled…
It occurs when neurons in the brain die, or their connections with other neurons break. This occurs because people with Alzheimer's disease experience atrophy of a part of the brain called the hippocampus. "The Hippocampus produces a neurotransmitter called acetylcholine. This chemical carries electrical signals from one neuron to another and is essential for memory, judgment and learning. In people with…