Dravet Syndrome Research Paper

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

There has always been one experience that made an impression on my life. It was in March of 2008. In order to understand my condition you must first know what seizures are. A seizure happens because of an abnormal electrical activity in the brain. I was first diagnosed with Absence seizures (petit mal) where you lose awareness briefly that soon developed into Tonic-clonic (grand mal) where your arms and legs get stiff. Some may go unnoticed or in other cases can be severe.

Elhers-Danlos syndrome, EDS is a group of inherited connective tissue disorder. Elhers-Danlos syndrome is a rare genetic disease caused by defects in the structure and synthesis of connective tissue protein: collagen. Collagen is the most predominant component of connective tissues such as skin, tendon, cornea and bones, making up more than 90% of the extracellular matrix protein (Uitto, 1986). Collagen is a strong, fibrous protein found throughout the body. It provides strength and support to the skin, bone, muscles, blood vessels, ligaments and many tissues and organs in the body. Research statistics show that 1 in 5000 people have EDS. This rare disease is prevalent in men and women of all racial and ethnic backgrounds (EDNF, 2016). In the past, Ehlers-Danlos syndrome had more than ten recognized types, each differentiated by Roman numerals. In 1997, researchers proposed a simpler method to classify these ten types and reduced the number of major

Nhyan syndrome also known as Lesch-Nyhan syndrome (LNS) and juvenile gout is an inherited rare disorder. Lesch-Nyhan syndrome is caused by an inefficient amount of enzyme hypoaxantine-guanine phosphoribosyltransferase (HGPRT) caused by mutations in the HPRT gene which is located on the X chromosome. LNS was clinically characterized and first recognized by pediatrician William Nyhan and medical student Michael Lesch, their findings were published in 1964.

Sweet syndrome is a rare disorder characterized by fever and the sudden onset of a rash, which consists of multiple tender, red or bluish-red bumps or lesions. These lesions usually occur on the arms, legs, trunk, face or neck. In some cases, additional systems of the body can become involved including the musculoskeletal system such as inflammation of the joints (arthritis), the eyes such as inflammation of the conjunctiva or the membrane that lines the eyes (conjunctivitis), and the internal organs.

I am driven by my ambitions and thrive to learn not only to educate myself, but to use my knowledge to educate others. Learning is not always associated with school; we learn things through experiences, mistakes, life lessons, people around us, and most importantly ourselves. In life I aspire to become a neurosurgeon like Dr. Ben Carson who has truly inspired me in various ways, and have what is called "Healing Hands". My favorite quote is from his mother, "You can do anything anybody else can do, except you can do it better." I carry these words with me every single day, with ever decision I make. One of my main goals in life is to visit Africa and build schools and manage a hospital so children in the area will receive a proper education, as well as a proper care. Through my own experience, I can truly say that life in a developing country is very challenging and I believe that these children deserve, as well as anyone else, the chance to learn in order to be successful in the future. This audacious path, which I have chosen, involves a great deal of learning and I know that I am most ready to do what is necessary for my

Loeys-Dietz Syndrome (LDS) is a genetic disorder that affects connective tissue in the body. To tell if someone has Loeys-Dietz syndrome, you can most likely see; widening or dilation of arteries, twisting or spiraled arties, widely spaced eyes, and spilt or broad uvula. Although, these are the main characteristics of Loeys-Dietz, not all patients suffer from all of these syndromes. LSD can also affect the bones, blood vessels, skin, and/ or organs. Other characteristics include: aortic aneurysm which is when the main blood vein has abnormal swelling, joints are flexible, possible scoliosis, etc. LSD affects each person differently and can only be passed down from a family member. Sadly, people who suffer from

Becoming a doctor would not only allow me to educate others, but would allow me to endlessly improve my medicinal knowledge and education. There are many moments in my life which have motivated me to pursue a medical career and help others, but the memory I consider most influential is when I volunteered with Shepherd's Table Soup Kitchen in Raleigh. My goal was to make as many people smile as I could. However, there was one man in line that made me smile instead. He was crippled and defeated by poverty; he was laid off from his job, which, consequently, prohibited him from attending college. He shut down and let poverty win. He said it was the biggest mistake of his life. Choked up with emotion and pain from the past, he then gave me advice, "If you can see your dream now, grab it. Whatever you do, don't let it go." Serving others, like the man in the soup kitchen, has bestowed upon me the motivation to lead and inspire others, just as he inspired

Lesch-Nyhan syndrome is passed down as an X-linked, or sex-linked trait. It occurs mostly in boys. People with this syndrome are missing or severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HPRT). The body needs this substance to recycle purines. Without it, abnormally high levels of uric acid build up in the

Phenylketonuria (PKU), most people have never heard this word before, or know that it is a rare genetic disorder. Unlike most people, I know a lot about it because I was born with this metabolic disorder. The disorder stops my body from breaking down an amino acid called phenylalanine like its suppose to. Along with limiting my food choices, it can also cause minor to severe complications, such as, neurological problems, hyperactivity, and delayed developmental problems. What does this have to do with why I want to go into the health care career of nursing? I would say dealing with this disorder was the stepping stone towards the love I have towards nursing.

I have always believed that education is an endless process of learning from people who inspire you and I feel privileged to have met several inspirations throughout my journey so far. As a resident, I shall continue to strive for excellence and provide the best medical care possible to my patients. Pediatric Neurology has been my driving force and a dream to pursue. Not only I feel obligated to help children live a healthier life, but I also feel the need to be able to reach out to as many people as possible. My ultimate dream is to foster painless solutions to the children suffering from epilepsy and work on finding a better approach towards the management of this disorder. I am confident that my commitment, passion and experience will help me achieve my dream, and at the same time prove myself to be an asset to your

Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), X-linked adrenoleukodystrophy (X-ALD), and infantile Refsum disease (IRD) are the four main peroxisomal disorders classified by the absence, or a defect in, specific peroxisomal proteins. Zellweger syndrome is considered the most severe of the four most studied peroxisomal disorders, causing a faster and earlier death. Lacking or having defective peroxisomal proteins is especially problematic due to the many functions specific to this organelle such as the breakdown of fatty acids, production of lipids for the nervous system and digestion, and functioning in development of the brain. Peroxisomes contain no DNA, causing all of its defects to be mutations of nuclear genes. This is significant because, as we’ll learn later in this class, nuclear genes code for peroxisomal proteins which are synthesized on cytoplasmic ribosomes to later be imported into the peroxisome. Without proper formation, these proteins will not enter the peroxisomes and remain functionless in the cytosol. Some individuals can still have peroxisomes detected in their cells, but they are non-functional--or cannot properly carry out their duties--without the assistance

own. My dream is to be able to use my knowledge of medicine to help these people triumph over what at one time

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

underlying cause can be determined. Seizures occur as a result of abrupt, explosive, unorganized discharges of cerebral neurons. This causes a sudden alteration in brain function involving sensory, motor, autonomic and/or psychic clinical manifestations.