One main idea within the article is even though that Rosnick has Proteus syndrome, he does not let that stop him from achieving his goals. The fifth paragraph shows the amount of determination Rosnick had to achieve his goals by saying, “And Rosnick, large fingers and all, wanted to play baseball. So his father went to work dismantling and rebuilding baseball gloves, until one thing became clear. Just like Rosnick, now a senior at Champe High in Aldie, Virginia, had taught himself to tie his shoes and button his shirt, he was going to teach himself to be a true ballplayer - a pitcher at that.” First, Rosnick learned to tie his own shoe, and then, he learned to button on his own shirt, and lastly he set a goal of becoming a good pitcher which…
Robert L. Dear Jr., the man responsible for the shooting at a Planned Parenthood center in Colorado Springs last year, has just been declared unfit to stand trial. According to Judge Gilbert A. Martinez, the suspect is “mentally incompetent” and announced that Dear must be sent to a mental hospital to restore his competency.…
Fibrodysplasia ossificans progressive, more commonly known as ‘Stone Man’s Syndrome’ or the abbreviation ‘FOP’, is genetic disease involving the body’s connective tissue. It is one of the medical world’s most rare and debilitating illnesses. As its common name says, Stone Man’s Disease causes “bone tissue begins to grow where muscles, tendons, and other connective tissues should be, effectively restricting movement” (Torres, 2013). As a result, the boy’s ligaments, tendons, and muscles form into solid bone. The individual with the disease will eventually develop a second skeleton over top of his/her original one (Panter, 2013). Fibrodysplasia ossificans progressive is the only documented medical condition in which a normal functioning organ system turns into another (FOP, 2009). Because “the heart and other organs are made up of a different kind of muscle, they do not grow bone tissue” and remain unaffected by the disease’s effects (Torres, 2013).…
Rest of the examination, including fundi was normal. EEG/ECG and CT scan did not reveal any abnormality. Chromosomal analysis was not carried out. This child had characteristics features of Rett syndrome including the age at onset, loss of communication and acquired hand…
Have you ever wondered why some babies when they cry it sounds like a cat? The reason is those babies have Cri-du-chat syndrome. Cri-du-chat syndrome is a rare genetic disorder that causes babies to sound like they have high pitch cat cry as well as some other disorders. This disorder is linked to the fifth chromosome. It is caused by the deletion of genetic material on the short arm or p arm of chromosome 5. To identify if a person has this disease you need to see the symptoms. Some these symptoms include a catlike cry, small head size, distinctive facial features, mental retardation, weak muscle tone, and difficulty with speaking.…
Recently, there is a strenuous effort to reach a consensus on diagnostic criteria for PMS and to recognize core symptoms of the syndrome O’Brien et al., 2011. These symptoms include psychological, physical, cognitive, and behavioral changes. Physical symptoms include hedach, bloating, diarrhea, fatigue, back ache, pelvic congestion, mastalgia, and gastrointestinal disturbances. Psychological symptoms include irritability, mood swings, nervousness, and depression. Poor concentration and feeling out of control are the primary cognitive changes. Finally, the behavioral changes include social withdrawal, aggressive behaviors, disturbed relationships and increased arguing. Biggs and Demuth, 2011 & Rapkin and Mikacich,…
It is caused by the presence of the homozygous recessive gene on chromosome 15 that codes for the production of hexosaminidase-A (Hex-A). Since the body has no HexA, a fatty substance is allowed build up abnormally in nerve cells, which eventually damages the cells and the brain. When a child is two years old, they will suffer seizures and degrading mental function. Their mental abilities continue to worsen to a point of paralyses and blindness, and death comes around age five.…
Rett's syndrome is a neurodevelopmenal disorder that for the most part only affects women. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. Rett's Syndrome can be summed up by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. The sickness was first breached upon by Dr. Andreas Rett who briefly described the illness and some of the occurring symptoms, and then later on Swedish researcher Dr. Bengt Hagberg published an article in 1883 giving…
Rausch explains all that has happened and why American politics is on the track of ailing now and in the future. Rausch explains the future looks like lawmaking is at an absolute standstill. Absolutely nothing is getting done in Congress and in the furthermore in the senate. According to Rausch future predictions regulatory discretion has reached a level that Congress has now viewed as dictatorial. The senate Rausch explains is a mess without any lawmaking and they currently hold the personalities of being wannabe presidents. At this future outlook, there is currently no political class, which is not a good thing for the American citizens. Also, Rausch explains in the future the economy will be a disaster and the United States has defaulted…
Clayton-Smith, J., & Laan, L. (2003). Angelman syndrome: A review of the clinical and genetic aspects. Journal of Medical Genetics, 40(2), 87. doi:http://dx.doi.org/10.1136/jmg.40.2.87…
DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…
Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood, and one of the twins, Morgan, was diagnosed with Rett syndrome as an infant. I started babysitting the twins, Morgan and Ryan, when I was a freshman in high school, but I mainly took care of Morgan. She would giggle and smile, but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper, and was unable to walk. It was hard on the family when they found out that one of their twins had Rett syndrome. Ryan is completely normal, and experienced his childhood just as every other kid did. The parents needed a babysitter because Ryan was unable to take care of Morgan on his own. I babysat the twins up until Morgan’s death at the age of twelve. Morgan’s death was not only hard on the family, but was also hard for me as well. Even though Morgan was mute, she still knew who I was, and would laugh along with the rest of her family. The family knew that Morgan was not going to live very long, but that still didn’t make it any easier when she passed. Her siblings treated her as if nothing was wrong, and would take her everywhere that they went. Morgan touched the lives of everyone that knew her, and I am grateful that she was able to be a part of my life.…
Thalidomide was developed by a German firm called Chemie Grunenthal. It was first developed as an anticonvulsant drug. Through early trials they discovered it would not be suitable for this purpose. The drug thalidomide became widely prescribed in the 1960’s and was mainly prescribed to pregnant women for morning sickness. Thalidomide beforehand had however been prescribed as an antidepressant, it was thought to be effective for both morning sickness and depression. After a short time it became obvious to doctors that there was a major problem, pregnant women who were taking thalidomide during their pregnancy were getting a horrible shock after giving birth. Their babies were being born with severe birth defects. Some of these defects included “congenital heart disease, microphthalmos and coloborna, intestinal atresis, renal malformations, abnormal pinnae and facial naevus.”…
PWS is a birth defect. A defect in the hypothalamus, a region of the brain, is…
Yes, Williams Syndrome is Degenerative. The degenerative condition occurs when the heart cannot beat efficiently and doesn't pump enough blood for the body because of the narrowing veins from Williams Syndrome. (wellness.com)…