Waardenburg Syndrome Research Paper

Quetext About Widget FAQ Contact Grace Hodges Mrs. Drew English 10 H 4 November 2016 Women Stand Strong Where Men Fail Add a grabber sentence here. In the classic novel, The Scarlet Letter by Nathaniel Hawthorne, the characters Hester Prynne, Rev. Arthur Dimmesdale and Roger Chillingworth are all linked together by one act of sin, and all experience shame and guilt about it. Each embarks on a separate journey to rediscover the purpose in his or her life. For Mr. Prynne, the shame of having an adulterous wife is too much to bear. He reinvents himself into Roger Chillingworth and becomes consumed in exacting revenge on Hester’s partner.

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

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.

Wiskott Aldrich Syndrome is a very rare, life threatening disorder which is found mostly in men.

AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene, paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The loss of the SNORD116 gene on chromosome

This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

Miller-Dieker lissencephaly syndrome (MDS). MDS features include classic lissencephaly (incomplete or absent gyration of the cerebrum), craniofacial dysmorphims, mental retardation and intractable epilepsy. MDS is a life-shortening disease, with death most often occurring during early childhood (Dobyns, W.B., Curry, C.J.R., Hoyme, H.E., Turlington, L., and Ledbetter, D.H. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet 1991. 48, 584–594; Nagamani, S.C., Zhang, F., Shchelochkov, O.A., Bi, W., Ou, Z., Scaglia, F., Probst, F.J., Shinawi, M., Eng, C., Hunter, J.V., et al. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

As Elora progresses and continues to grow, her health must be constantly monitored. She should frequently visit an eye care professional, to ensure she does not develop other eye conditions. Visiting a healthcare professional, such as a pediatrician, will also be crucial to helping Elora maintain good health as children who suffer from aniridia can also go on to develop WAGR syndrome. WAGR syndrome is an acronym for a network of diseases that commonly occur together, this network includes Aniridia and a rare kidney cancer called Will’s tumor. Elora will have to adjust to living with her disorder as she

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. (n.d.). Retrieved April 18, 2016, from http://www.nature.com/eye/journal/v25/n11/full/eye2011201a.html

Also, if caught early enough, the less likely there will be residual brain damage and memory impairment. Treatment for WKS is immediate administration of thiamine. Thiamine doses differ from patient to patient depending on severity of the WKS. Oral thiamine supplements are not effective in severe cases because of the liver damage and disrupted thiamine metabolism. It usually is administered intramuscularly. Taking the thiamine may not completely reverse all damage, but can prevent the progression of the disease. Also, a few lifestyle changes should be made, including a complete diet and refraining from heavy

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

Over the course of my research paper I will be examining the different aspects of postpartum depression and how it affects their child’s developmental stages. This paper will explain how maternal depression could do harm to a child and if there are treatments available. In my paper I will explain the methods I will be using, information I found in my research, developmental theories, and my opinion on this subject and a conclusion to finish up this paper. In the first section of my paper I will explain what methods I have used to gather my information next I will conclude my research findings this section will include definitions, the stages, how it affects developmental and treatments available, moving on with my paper I

Prader-Willi syndrome(PWS) is a disease caused by spontaneous genetic mutations in chromosome 15 which is evident in the early development of a fetus. Specifically, there is a deletion or a loss of genes from that chromosome. Dr. Prader, Dr. Willi, and Dr. Lambert were the first people to describe the features of PWS in 1956. Since that first time, more and more information on Prader-Willi syndrome has begun to be understood (Encyclopedia, 2016). This genetic disease is capable

During the process of meiosis, usually a single pair of chromosomes will have each member inherited from each parent. Sometimes there are situations where a pair of chromosomes will have each member come from just one parent and not the other. This is called uniparental disomy. Uniparental disomy, or UPD, can sometimes cause abnormalities to the individual it occurs in. Some of the syndromes that UPD causes are Prader-Willi syndrome (PWS), Angelman syndrome (AS), and Beckwith-Widemann Syndrome (BWS). These syndromes have a wide variety of characteristics including mental retardation, seizures, and asymmetric body growth. Uniparental disomy has also been discovered as an aid in some diseases, such as cancer and cystic fibrosis, based on similar