Introduction Phenylketonuria, or PKU, is “a genetic disorder in which a defective liver enzyme results in the inability to metabolize phenylalanine, an essential amino acid found in all dietary proteins” (Paul, 2000, para. 1). Phenylalanine (Phe) controls the coloring of skin and hair. PKU, if it goes untreated, can cause seizures, behavioral and physical abnormalities, and hinder intellectual growth. While both scientists and doctors have made great strides in testing and treatment of PKU here in the United States, smaller countries still battle the debilitating disorder. This analysis will discuss the history of testing for PKU, the possibility of reverse intellectual impairments of people with PKU, and steps for mothers either looking to become pregnant or are pregnant and afflicted with maternal PKU. History of Testing for PKU “The culture of testing began in the early 1960’s. During this time, general frustration over the inability to treat mental retardation was shifting with social and rehabilitative services towards scientific treatment” (Paul, 2000, para. 5). Robert Guthrie, then a microbiologist and physician working in Buffalo, New York, was troubled by the fact that both his son and niece were mentally retarded. He desperately searched for answers as to why his loved ones were struck with mental deficiencies. Upon drawing blood from his niece, whose mental retardation was caused by PKU, he noticed an almost fatal level of phenylalanine in her sample. “The test at the time for PKU was known as the “wet diaper” test – in which a drop of ferric chloride added to a urine-soaked diaper turned green if the infant had PKU. The test was unreliable until the age of eight weeks, by which the infant might have suff... ... middle of paper ... ...s still unknown, it is clear that the fetus is harmed by the abnormal intrauterine environment” (Waisbren, 1999, para. 1). It is important for mothers either with PKU or carrying the PKU gene to ensure that they stick to the low-Phe diet, and to ensure potential fathers are not carriers of the gene either. Conclusion “While PKU in the United States seems to be in control, occurring only in every 11,000-15,000 births”, (Paul, 2000, para 6) smaller third-world countries are still afflicted with the disorder today. PKU can be controlled through both the Guthrie test and a low-Phe diet. Foods like fruits, vegetables and low-protein breads and pastas are not only low in Phe, but rich in vitamins and minerals. Hopefully with further research and technological breakthroughs, scientists and doctors will be able to eliminate the defective liver enzyme that causes PKU.
TSEs or more commonly prion diseases are a group of invariably fatal neurodegenerative diseases that occur in humans and animals . This disease is caused by a protease –resistant protein (PrPsc) after misfolding of a host-encoded prion protein (PrP). TSEs can exist as genetic, infectious or sporadic forms. The diseases are characterized by dementia, ataxia and neuropathlogically due to loss of specific neurons in the brain. Other clinical features include persistent painful stimuli, dystonia, visual or cerebellar problems and gliosis (1).
The child that I tested will be referred to as K.L. I tested her on April 14th 2016. K.L. is 2 years old, with her exact age being 2 years 9 months and 14 days. I called and asked her mother if she would mind dropping K.L. off with me for a few hours so I could perform the test, and then pick her back up after the test was complete. This test more accurate when the caregiver is not present. K.L. has a step sister and a baby brother on the way. She has always been in the daycare setting, because her grandmother is a provider. K.L. was delivered full term via planned cesarean section due to her mother’s small pelvis. There was no complications during this pregnancy. K.L. weighted 8 lbs. 4 oz. and was 20 ½ inches long at birth, now weighting in at ...
In the film, two contrasting examples of genetic testing are shown. The first example is of the twins Noah and Alexis Beery, who are stricken with a rare disease that mimics cerebral palsy. Through genetic testing, doctors discovered that the twins could be treated with dopamine. By sequencing their entire genome, the twin’s lives were saved. The second example is Andrew S...
Journal of Intellectual & Developmental Disability, by Dillenburger, K., and Keenan M., published in 2009, summarized Nov 19, 2009
During the nineteenth century a variety of alternative medical traditions became popular in the United States. There was a shift in how people began to view their physical, mental, and emotional health. A type of alternative medicine that quickly became popular in the United States and Europe was the tradition of hygeiotherapy. This form of treatment included hydropathy a type of water-cure treatment and combined that with exercise, dietary reform, sexual restraint, and any behaviors that were viewed as unhealthy.
Although there are many factors that affect the development of the fetus, research on the specific effects of prenatal maternal stress and the resulting negative outcomes for the development of the fetus will be reviewed. While there is knowledge of these harmful effects in scientific and medical communities, researchers are still in the midst of discovering the results of these negative effects on human development. An overall review of the literature suggests that this topic is still relatively new in research as most of the articles make note that despite the amount of current research studies, there are still many unanswered questions.
Prion Disease is a lethal thing that does not have a cure. Many people are dying from this and researchers are nowhere near close to finding anything to stop the disease. By making more people aware of this, it can make some that are interested in medicine and science have an drive to help find a cure. Prion Disease is a complex thing to understand completely, especially when there is no prior knowledge about this topic. So explaining the different types and other general information about the disease is important. Some more topics to discuss are cures and symptoms. Some aren’t aware that they have Prion Disease, which can lead to it spreading, and the fact that there isn’t a cure is another problem. Since Prion Disease isn’t a common topic that many hear about daily or even know about. By talking about basic information about Prion Disease and how there isn’t a cure and the symptoms that come with it, people can start to understand how important this really is because many people are dying and by informing society finding a cure with fresh eyes could be done a lot sooner.
...U is a very important factor in a preemie or a baby born birth defects life.
...n level in the blood which is hyperbilirubinemia. The woman’s baby may be at risk for also developing diabetes and obesity. If you have had gestational diabetes you are at a higher risk for developing it again during future pregnancies.
According to the Mayo Clinic, the disease affects about 1 in every 100,000 people in the United States. It occurs most frequently in people of Scandinavian descent. A child has a one in four chance of developing the disorder if both parents have the defective gene. Currently 7,420 people have Krabbe disease around the world. Only 1,236 adults and the remaining 6,184 children have the disease. Children are more common to get Krabbe disease because they are in a larger age group. In the United States the current population is 323,995,528 people. Only 1 out of 100,000 adults and kids get Krabbe disease. In the US there are presently only 3,239 people who have this disease. Only 539 of them are adults, while the 2,700 remaining are children. In Michigan the population is 9,922,576. Out of the population only 99 people have Krabbe disease. Out of the 99 people, only 16 are adults and the remaining 83 are children. Although Krabbe disease is categorized as a rare disorder that only children get, kids are not the only living beings that can get it. Children are more likely to get the disease because it is a disease that kids are born with. The disease is developed inside the child's brain when they are in the womb, three months before birth. There is a shortage of GALC causing the disease to flourish. Adults are also able to get the disease but it is not as likely to happen because it develops as they grow up. Statistics show that adults who
Polycystic Kidney Disease, often referred to as PKD, is a genetic disorder passed down through families and involving bilateral renal cysts, usually without abnormality. The kidneys are located in the upper part of the abdomen, toward the back, and about the size of one’s fist. They filter waste and unneeded fluid from the blood and form urine. When cysts form in or on the kidneys they fill with fluid and become enlarged. The enlargement of the kidneys will result in decreased function and eventually kidney failure. There are two major forms of PKD, autosomal dominant (ADPKD) and autosomal recessive (ARPKD). Both of these can involve the presence of renal cysts at any time during an affected person’s life, from prenatal stages into adulthood.
Coughlin, S. S. (2002). Future challenges for research on diagnostic tests: genetic tests and disease prevention. Journal of Epidemiology & Community Health, 56(5), 335-336. doi:10.1136/jech.56.5.335
“It is a simple fact that many, if not most, of today’s modern medical miracles would not exist if experimental animals had not been available to medical scientists. It is equally a fact that, should we as a society decide the use of animal subjects is ethically unacceptable and therefore must be stopped, medical progress will slow to a snail’s pace. Such retardation will in itself have a huge ethical ‘price tag’ in terms of continued human and animal suffering from problems such as diabetes, cancer, degenerative cardiovascular diseases, and so forth.”
(Gilman, Breslau, Subramanian, Hitsman, & Koenen, 2008). Despite the warnings about the dangers of smoking while pregnant, some women still choose to smoke, which places themselves and their baby at risk for many health issues. Damage caused by smoking while pregnant During pregnancy, smoking can cause problems for a woman’s own health, including, ectopic pregnancy, vaginal bleeding, placental abruption, in which the placenta peels away, partially or almost completely, from the uterine wall before delivery; Placenta Previa, a low-lying placenta that covers part or all of the opening of the uterus (March of Dimes, 2011). Women that smoke expose their unborn baby to dangerous chemicals, like carbon monoxide, tar and nicotine.... ...
Every woman when pregnant has a 3-5% chance of having a baby born with a birth defect, and these chances increase when the developing fetus/ embryos are exposed to teratogens, whether it’s intentional or unintentional (Bethesda (MD), 2006). Teratogens can cause severe birth defects, malformations, or terminate the pregnancy altogether (Jancárková, & Gregor, 2000). The placenta is known as an effective barrier from any detrimental pathogen that can potentially hurt the fetus. The timing of exposure of any teratogen is critical to the impact of prenatal development (Bethesda (MD), 2006). The most vulnerable time of the fetus for severe damage is during early pregnancy when all the major organ and central nervous system (CNS) are developing. Miscarriages have an important role in keeping a pregnancy from evolving when there is something serious going on with the developing fetus/embryo. Miscarriages are more common than we think and are the most familiar type of pregnancy loss (Bethesda (MD), 2006).