Each chromosome in the DNA strand has a job or task that helps the body function, for chromosome 18 its job is to make proteins. When the chromosome 18 has three copies instead of two, then Edwards syndrome is formed. Edwards syndrome or trisomy 18 is the second most common trisomy disease with trisomy 21 being the most common. In every 5,000 babies born 1 will be born with Edwards syndrome. More than 20 to 30% of the infants that make it to full term will die within the first week to month.
According to the Centers for Disease Control and Prevention (CDC), 1 of every 68 children in the U.S would have autism spectrum disorder; moreover, the study shows that 1 in 42 boys and 1 in 189 girls would have autism spectrum disorder (1). Autism is a disorder in the nerves that makes the human brain socially inactive, and in order to understand it, several main aspects must be considered. Although autism
has developed an investigational drug called drisapersen for the treatment of DMD. This drug aims to treat 13% of the patients who are responsive to exon 51 skipping treatment. This represents the largest subpopulation of DMD patients, including patients with deletions of exon 50, exon 52, exons 45-50, exons 48-50, and exons 49-50. DMD is caused by the mutations in the dystrophin protein gene. Mutations are, mostly, deletions of one or more exons that interrupt the open reading frame of the transcript and eventually stop the synthesis of the dystrophin protein.
It is s a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. This case was interesting because it really showed the significant impact of parenting and access of care. I was involved in a case that could be easily addressed and managed if the parents were agreed about the treatment of their baby, since they had pervious baby with the same condition Trisomy 13 and he died at age 2months.
According to the CDC, “approximately half of the babies less than one year old who get pertussis need treatment in the hospital” (Fast Facts). The pertussis vaccine, discovered in 1906 was developed by Bordet and Gengou. It is a common virus that is more well known for affecting babies. The virus also known as “Whooping Cough” for the sound the host makes while trying to catch their breath. A single person with, “pertussis can infect up to 12 to 15 other people” (Pertussis F.A.Q).
The history of Spina Bifida goes back almost 12,000 years. Professor Nicholas Tulp from the 16th century has study this disease and its symptoms. He was the one who introduce the name “Spina Bifida.” There are three types of Spina Bifida defect are: Occulta, Meningocele, and Myelomeningocele. Spina Occulta is the mildest type of the disease. According to UCSF Benioff Children’s Hospital, vertebrae are malformed but the spinal cord and its covering are undamaged.
In the first episode of The Good Doctor, it does indicate that Shaun has autism but throughout the show, it progresses that Shaun also has Savant Syndrome. Although we did not many lessons on the Savant Syndrome, savant syndrome is a rare condition that 1 or 2 in 200 people with ASD have, this syndrome includes people with serious mental disabilities, including the autism spectrum disorder to have the ability to gain excessive amounts of memory, arithmetical abilities, and extraordinary skills in art and music. Dr. Shaun Murphy hits the criteria of having the ability to remember the excessive amount of memory and Arithmetical abilities, he is able to remember such things as his bus schedules, and many things regarding his past. He is also able to calculate or solve problems in his head within a few
Many children throughout the United States are born into abusive families. These children have had life experiences that youth their age should not have to endure. This is when the state steps in and takes children away from their families. The child welfare system often places children in the foster care. Unfortunately, the foster care system is not always as helpful as it appears to be.
Retirement is the last thing on my grandma 's mind, as she loves her job, (she has many friends there, as well as the fact she says it’s relaxing) so she doesn’t want retirement, although she could take a year off because of how many days off she has saved up. She loves her quiet life in her small town of Homer, she is courteous to her neighbors, giving treats to them on the holidays, she does anything to just be nice. She sees her kids and grandkids as the light of her life, forgiving our mistakes and pushing us to always achieve what we want to do, she truly is an amazing person. So you see, Sheila Thompson really is an inspirational person, as she reminds me to always stay positive. Even though she went through taking care of three kids alone and having her husband leave, she managed to work through it thanks to her just being positive.
She is the most important person in my life. She helps me with everything that I go to her for and she is amazing. Talking to her is like talking to a best friend. Because I do not have a dad, mine and my mom’s relationship has gotten stronger. Since my brother has left for college at UT Chattanooga, me and my mom have gotten closer in that way as well.
From that point on, new nucleotides are added to each of the original strands (A to T, C to G) until the result is two identical sequence copies of DNA. 3. How is DNA information used to synthesize polypeptides? A gene or protein is used to make polypeptides. In order to create this gene, transcription and translation must take place to create a protein from DNA.
The parents turn out different based on DNA combos that are chosen. 4. What is the term for the random arrangement of homologous pairs of chromosomes during the first division of meiosis? Independent Assortment 5. What role does the Polymerase Chain Reaction (PCR) play in producing a DNA Profile?
It can be found in many ethnic groups, but mainly found in Caucasians. With the proper care, the average survival rate of someone with CF is age 40. Known Causes? Cystic Fibrosis is a genetic disease caused by a defective CF gene. There has to be one copy of this defective gene in each parent in order for a child to have this disease.
Duchenne muscular dystrophy is a form of muscular dystrophy that only affects boys. Cardiomyopathy is present in around twenty-five percent of patients at age 6, and increasing as age goes up to fifty-nine percent at age 10. At eighteen years of age over ninety percent of patients have Cardiomyopathy. There is no known cure available at this time; but there are treatments that include steroid administration, and assisted ventilation. The absent dystrophin in Duchenne muscular dystrophy is due to a frame shift in the gene.