Day 1, April 3, 2008

We began working on our case study yesterday by reading the article and looking up any terms we did not know or understand. Here is a list of the terms that we looked up.

Autosomal:

• Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
• Retrieved from:
  http://www.medterms.com/script/main/art.asp?articlekey=15358

Hemophilia A:

• Hemophilia A is the most common type of hemophilia. It is also known as factor VIII deficiency or classic hemophilia. It is largely an inherited disorder in which one of the proteins needed to form blood clots is missing or reduced. In about 30% of cases, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation.
  
• Everyone inherits two sex chromosomes, X and Y, from his or her parents. A female inherits one X chromosome from her mother and one X chromosome from her father (XX). A male inherits one X chromosome from his mother and one Y chromosome from his father (XY). The gene that causes hemophilia is located on the X chromosome.A woman who gives birth to a child with hemophilia often has other male relatives who also have hemophilia. Sometimes, a baby will be born with hemophilia when there is no known family history. This means either that the gene has been "hidden" (that is, passed down through several generations of female carriers without affecting any male members of the family) or the change in the X chromosome is new (a "spontaneous mutation").
  There are four possible outcomes for the baby of a woman who is a carrier. These four possibilities are repeated for each and every pregnancy: 1. A girl who is not a carrier 2. A girl who is a carrier 3. A boy without hemophilia 4. A boy with hemophilia With each pregnancy, a woman who is a carrier has a 25% chance of having a son with hemophilia. Since the father's X chromosome determines the baby will be a girl, all the daughters of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia.
• Retrieved from:
  http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=180&contentid=45&rptname=bleeding

Myotonic Dystrophy:

• Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multi-system disorder that affects both smooth and skeletal muscles and may affect the central nervous system, heart, eyes, and/or endocrine systems.
• There are three types of DM1 that are distinguished by the severity of disease and age of onset. Mild DM1 is characterized by cataracts and sustained muscle contractions (myotonia). Classic DM1 is characterized by muscle weakness and wasting (atrophy), cataracts, myotonia and abnormalities in the heart’s conduction of electrical impulses. Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, mental retardation and early death. DM1 is caused by an abnormality in the DMPK gene. Affected individuals have an increased number of copies of a portion of this gene called CTG. The greater the number of repeated copies of CTG, the more severe the disorder.Myotonic dystrophy type 2 (DM2), formerly called proximal myotonic myopathy (PROMM) is an autosomal dominant disorder with symptoms that are similar to DM1, but tend to be milder and more variable than DM1. DM2 is an autosomal dominant genetic disorder caused by an abnormality in the ZNF9 gene on chromosome 3q. Affected individuals have an increased number of copies of a portion of this gene.
• Retrieved from:
  http://www.webmd.com/brain/dystrophy-myotonic

Cystic Fibrosis:

• Cystic fibrosis is a disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas . People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, growth, and development. There is no cure for cystic fibrosis and the disease generally gets worse over time. The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer.
• Cystic fibrosis is a genetic disorder. A child must inherit a specific gene from both parents to get cystic fibrosis.
• Cystic fibrosis is usually diagnosed at an early age. Although the symptoms are not the same for everyone, some common symptoms of a baby who has cystic fibrosis include:
  · A blocked small intestine at birth, which prevents the baby from passing his or her first stool
  · Very salty sweat or skin.
  · Diarrhea.
  · Not growing or gaining weight the way that other children do.
  · Breathing problems, lung infections, a cough that does not go away, and wheezing.
  Other symptoms may also develop in childhood such as:
  · Clubbing (rounding and flattening) of the fingers.
  · Rectal prolapse (when part of the rectum protrudes from the anus).
  · Growths (polyps) in the nose or sinuses.
• Retrieved from:
  http://children.webmd.com/tc/cystic-fibrosis-topic-overview