Congenital disease Congenital disease (birth defect) are defects of any kind that are present at birth. However, not all are caused by a mutation in the DNA. Another way to say congenital disorder are birth defects. Congenital disease is where it “occurs at birth or even before birth…the incidence is 2~5% in newborn and the percentage of congenital disease related to genetic or chromosome defects was 60~70%.; the other 30% of etiology was unknown… congenital disease can be categorized into chromosome disorders, congenital anomalies, inherited metabolic disorders and rare diseases” (Hospita). Major congenital diseases are abnormalities that lead to developmental or physical disabilities or require medical or surgical treatment. There are more than 4,000 different known birth defects, ranging from minor to serious, and although many can be treated or cured, they 're the leading cause of death in the first year of life. Birth defects can be caused by genetic, environmental, or unknown factors. For most birth defects, the cause is believed to be an interaction of several genetic and environmental factors. Congenital diseases are common; “about 3 to 4 percent of babies are born with some type of birth defect” (Hospital). Most congenital diseases are caused by genetic or environmental factors or a combination of the two. In most cases the cause could be unknown. Genetic and heretic causes include; chromosomal defects which is caused by too few or too many chromosomes, or
The novel “Unwind” written by Neal Shusterman is a highly recommended novel in the dystopian/science fiction genre. Each of the dialogue or quotes brings more impression and emotion than the previous; making the audience eager to discover how Connor, Risa, and Lev show different aspects and messages throughout their journey in the novel. Connor, Risa, and Lev are the three protagonists who all have one thing in common, they’re about to be unwound. Unwinding in the context of the novel is a process where teenagers from the age of thirteen to eighteen can be signed by their caretaker for their body parts to be harvested for others. Therefore, the novel follows the story of the three protagonist’s journey to try to survive until the age of eighteen,
These causes specifically are completely biochemical, occurring within the chemical processes that develop the fetus. A single gene defect goes hand in hand with inheritance. All genes are inherited therefore so are bad genes; a single gene defect is that, a gene for a disease is inherited and manifests as a birth defect. Then, there’s chromosomal abnormalities. Chromosomes are those structures within our cells that contain genes. If an abnormality occurs (such as a replacement, of one piece of the gene for another) this will also results in a birth defect within the fetus.
The documentary titled Forks over Knives presents the viewers with information and studies that were preformed which correlated dietary habits to risk of diseases. Recent studies have predicted that this generation and coming generations have a reduced lifespan, meaning that most of these individuals will not outlive their parents. Although there is a tremendous amount of money being spent on health related concerns the number of deaths remains high. Some statistics that were presented in this documentary, that can be used as credible evidence to the previous statement is that every minute a person dies due to a heart disease and approximately 1,500 people die a day due to cancer. According to Colin Campbell and Caldwell Esselstyn, major contributors to
Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)
There are two types of diseases, infectious and genetic. Unlike infectious diseases that are caused by organisms such as bacteria, genetic disorders are caused by mutations in an organism’s DNA. Cystic Fibrosis is a genetic disorder that is recessive autosomal and causes the creation of thick and sticky mucus. Because the disorder is recessive there must be two recessive alleles present for the trait to be expressed. Whereas in dominant disorders only one dominant allele needs to be present to express a disorder. For there to be two recessive alleles, both of the parents must be homozygous recessive or heterozygous for the offspring to express the recessive trait. If the offspring is heterozygous they will become carriers of the disorder and
There are many known genetic diseases in the world. There are different types such as chromosomal and monogenic. Chromosomal disorders are when someone has too many or not as many chromosome as they are suppose to have (46 total chromosomes). Chromosomal disorders can also manifest when there are structural abnormalities. Monogenic disorders are an inherited medical condition caused by a DNA abnormalities. These diseases occur all throughout the world today. Depending on what region of the world you are in depends on what the most common ones are. Cystic Fibrosis has become the most common lethal genetic disease in the United States as of 1999. Although there are treatments available, there is not a known cure, and the effects remain burdensome
Genetic diseases are the results of changes in an individual's DNA, usually inherited. An example of a fatal genetic disease is cystic fibrosis (also known as CF). This is the most common fatal genetic disease in the United States, over 30,000 people in the U.S. have cystic fibrosis and about 1,000 people are diagnosed each year. This disease attacks many different parts of the body, but the most affected area is the lungs. Cystic Fibrosis is genetic, has obvious symptoms, and is deadly.
A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.
Congenital heart disease in newborns is a very common birth defect and effects roughly 1 in 100 or 1% of the babies born in the United States. Some of the heart defects that are a part of congenital heart defects include, hypoplastic left heart syndrome (HLHS), pulmonary atresia (PA), Tetralogy of Fallot (TOF), Total anomalous pulmonary venous return (TAPV/TAPVR), tricuspid atresia and many more.
A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000
genes out of 100,000 that make up who we are. This is caused by the genes
Congenital heart diseases (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life, (1) with an annual prevalence ranging from six to twelve affected infants per 1,000 live births. (2)
There are many types of genetic conditions. Genetic mutations cause these genetic conditions. Genetic mutations can occur if there is an extra chromosome in a gene, if there is a missing chromosome, or even if there is a distorted chromosome. Some genetic conditions include autism, food allergies, and Down syndrome.
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A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.