Incidence: One in 300 - 15000 births; however, when other anomalies of the CNS are present, it is detected in 50%. Mostly asymptomatic.…
According to American Journal of Neuroradiology (2002), leukodystrophy is a progressive disease of myelin sheath in which a genetically determined metabolic defect results in confluent destruction, or failed development, of central white matter. Most leukodystrophies are autosomal recessive or X-linked recessive with onset in early childhood. Dominantly inherited leukodystrophies with onset in adulthood are rare (http://www.ajnr.org/content/27/4/904.full#xref-ref-1-1).…
There are several different forms of Spina Bifida. 1) Spina Bifida Cystica\Myelomeningocele is the most severe form and leads to nerve damage and other disabilities. Infants born with this type of spina bifida usually have an excessive amount of fluid on their brains. This occurs because the fluid that protects the brain and the spinal chord in unable to drain properly. The fluid builds up causing pressure and swelling.2) Spina Bifida Occulta usually does cause harm and most people are unaware that they have the illness. 3) The last type of Spina Bifida is Meningocele occurs when a part of the spine chord is protruding though the spine. There is usually no nerve damage and may lead to minor disabilities.…
Individuals with spina bifida are growing into adulthood and need to have the proper extensive health care. The article says that Spina Bifida is the most common birth defect affecting the central nervous system. It is the most complex birth defect because it is so complex. Diagnosis and treatment begins before birth, this is the first issue of the journal devoted solely to spinal bifida since 1998.This paper is important because the research done teaches us things about spinal bifida which is more prevalent than many other neurogenic disorders, and can impact treatment for people with other development disabilities I just found out that I son has spina bifida. Spina bifida involves genetic and environmental factors; the most common form is myelomeningocele and usually affects the brain. Spina bifida is perceived by the public as an orthopedic disorder because of the difficulties with ambulation. Pre-natal diagnosis involves alpha-fetoprotein screening and ultrasonography in neural tube defects because definitive chromosomal abnormalities are usually not present. More individuals with spinal bifida live into adulthood. The effective transition of care from pediatric to adult setting is increasingly important. The study and information for adults with spinal bifida lags behind all other chronic health…
A fibroid is the most common tumor found in the pelvis. Such tumors develop most often between the ages of 35 and 45 years, hardly ever before age 20. most fibroids occur in women of reproductive age; they are diagnosed in African American women two to three times more frequently than in Caucasian women. It is currently believed that obesity has a lot to do with fibroid development. Because fat cells make estrogen, women who are obese are more prone to estrogen-dependent conditions, which include fibroids. Usually a fibroid in the uterus where it is the most common form of uterine mass. A fibroid can also develop on another structure that contains smooth muscles cells. It can even invade another organ when it grows too large to confine itself…
This disease occurs more frequently among Hispanics and whites of European extraction, and less commonly among Asians and African-Americans. About 95% of babies born with spina bifida have no family history of it. However, if a mother has a child with spina bifida, the risk of it happening again in a…
Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and one strand must be inherited from each parent. Therefore, not all children of people with this condition develop it. But of course they are at increased risks of developing the condition. Both parents must either have Cystic Fibrosis, or be a carrier. Since it is a recessive gene, if a child has parents with Cystic Fibrosis and does not develop the condition, he or she will still have the recessive gene and become a carrier. Therefore, their children will now be at risk (Moe, 1992, p. 70).…
Considered one of the most common neural tube defect in the United States, spina bifida affects 1,500 to 2,000 of the more than 4 million babies born in the country each year. There are approximately 40% of all Americans that may have spina bifida occulta, but may experience no symptoms and therefore are unaware. The other two types of spina bifida, meningocele and…
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.…
Cystic fibrosis is a chronic lung disorder caused by an autosomal recessive multiorgan disorder. The disorder is due to an exocrine gland dysfunction. The deficiency in chloride flow and increase sodium absorption results in thick sticky mucous that clogs the lungs and obstruct glands The pancreas obstruction leads to the failure of secretion of enzymes. The chronic lung disorder is prevalent amongst Caucasians. “Cystic fibrosis occurs in one of 2,5000Caucasians,approximately 30,000 individuals most are diagnosed by six months of age a are living in the United States”(DNA Testing In Prenatal Case, Cystic FIbrosishttp://www.ncbi.nlm.nih.gov/ pmc/articles/PMC1200714/). “12 million more Americans are carriers but not affected by it”(Plain patient…
During the development of the embryo, within the first month the nervous system is formed. It is created by a plate of cells called the neural plate. This then turns in to the neural sheath. The neural sheath by the 28th day, develops into the brain and the spinal cord. If problems arise during the development of the cord, it is called a neural tube defect which can lead to spinal bifida or other spinal cord deformities. Spina Bifida is one of the most common birth defects with in the United States, one out of every eight babies are diagnosed with this disorder. Also 95 percent of babies with spina bifida and other neural tube defects are born to parents with no family history of these disorders. If one child has spina bifida, the risk of recurrence in any other pregnancy is greatly increased, to about one in 40.…
Cystic Fibrosis is caused by a fault in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 at q31.2. For CF to be expressed, a faulty copy of the gene must be present at both alleles; autosomal recessive. Therefore both parents must be carriers of, or affected by the cystic fibrosis gene (fig. 1) for the gene to be passed on. If a person has one copy of the faulty allele (are heterozygous) they are carriers of the gene and can pass this allele on; if they possess two copies of the faulty allele (are homozygous), they will have CF. People who have CF must consider that their children will definitely be carriers at the very least, and depending on the genotype of their partner, may also suffer from CF.…
Currently, all across the world there are approximately 100,000 known cases of individuals living with Cystic Fibrosis. According to utoronto.ca/kids/cystic the inheritance of cystic fibrosis occurs in 1 in 3500 white births, 1 in 14,000 black births, 1 in 25,000 Asian-American births and 1 in 11,500 Hispanic births, with those from white Caucasian backgrounds being at the highest risk of inheritance.…
There are numerous fibroblast growth factors (FGF) in our central nervous system. Members in the FGF family play different roles in the Central Nervous system (CNS) [2]. In the FGF family, there are 23 members of FGF, 10 of those are expressed in the CNS, including FGFR 1-4 [2]. There is great focus on FGF 2,8,15, and 17. FGF2 and 15 are stated throughout the CNS [2]. FGF8 and 17 are confined to specific regions in the brain and only expressed during the beginning stages in the embryo proliferation and neurogenesis [2] . The FGF is also involved in the development and maintenance of the nervous system [4]. Recent advances in isolating and maintaining stem cells have shown FGF2, and 5 are one of the key factors of proliferation and differentiation.…
lobes of the cortex. To test the hypothesis, the amount of mtDNA deletion in 22…