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.…
Paediatrics is the medical science related to the diagnosis and treatment of childhood illness. One of the illness such as Pierre Robin Syndrome (PRS) also called Pierre Robin Complex or Sequence was identified by Pierre Robin a French stomatologist in 1923. That is a facial difference condition with a very small lower jaw (micrognathia or retrognathia) (Figure 1), a normal size of tongue but in the setting of a very small jaw that the tongue looks large tends to fall a downward or backward-positioned toward the throat (glossoptosis)(Figure 2) can act as an obstruction and result in a U-shaped cleft palate presented at birth (birth defect) (Redett, 2008). This malformation development occurs in the womb and approximately one in 8,500 to 14,000…
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.…
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…
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, generic childhood disorder with reported incidence of about one in a million. Hutchinson has reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome 's senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have "plucked bird" appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this disease. It is usually first diagnosed based only on appearance and treatment is given for other conditions associated with the aging process rather the disease it self.…
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.…
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,…
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…
My eldest sister, Susanna has Rett Syndrome. This topic hits home for me because of her, and I have been fascinated with…
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…
PWS is a birth defect. A defect in the hypothalamus, a region of the brain, is…
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…
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)…
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.”…