Free Essay

Spina Bifida

In: Business and Management

Submitted By aaronk9
Words 643
Pages 3
A Look Into the World of Spina Bifida

One in one thousand births are affected by neural tube defects, second most common in humans. Two particular defects include anencephaly and spina bifida, caused by the neural tube’s failure to close early on during the development of the brain and spinal cord. If the neural tube that forms the brain does not close, it is known as anencephaly and this results in the brain forming completely abnormally and the cranium being absent. The results are death at birth.
In mice, this defect is known as exencephaly. Which is where Dr. Heather Mcdermid and her research staff base their studies and experiments. Mutation of the gene Cecr2 causes exencephaly in mice in a strain dependent manner. For example a BALB/c strain on a mouse, when mutated, shows exencephaly in 75% of mouse embryos. Studing of the gene Cecr2 and its major modifier, a gene located on chromosome 19, will hopefully add to their field of research and understanding of the mechanisms of normal neurulation and neural tube defects.
Dr. Mcdermid went to school at the University of Western Ontario, where she would receive her bachelors of science in zoology; then, due to marriage, Dr. Mcdermid moved to Kingston and through observing a prof of the field, became avidaly interestd in human genetics. Going on to receive her P.H.d. Upon returning to Edmonton
Currently engaged in two projects, Dr. Mcdermid and her team are looking at Neural Tube Defects in mice, a lot of different aspects being associated to this, however this one being newer; it’s the mutation of a gene that prohibits the production of protein which in turn leads to NTD(Neural Tube Defect). The particular defect that Dr. Mcdermid is studying, turns into an equivalent of anencephaly, where the brain and spine form very early. In mice there are at least two hundred and forty different mutations that are likely to play a part in the defect. The brain is supposed to be a tube, but in the case of this particular defect, the brain remains flat and completely develops abnormally; now open to the amniotic fluid, which causes the brain to degrade over time. We see this in babies, when they are born and there is essentially nothing. No higher brain function at all, leading to death in just days after birth if not sooner. This has led to the studying of a gene that affects the expression of other genes. In this case, the gene that “turns on” or “turns off” the cause of the defect. However in humans it is a lot more complicated, because it is not a single gene defect, it is a multi factorial including: the environment as well as multiple genes, so it varies differently than in mice. So they hope that with the studying and understanding of all the different pathways in mice, where it is simpler, this can help them apply it to humans. All of this could not be done without the help of technology. And the advancement of technology over the years has helped immensely in their research. For example, if they wanted to sequence something, they would actually have to run gels and look at x rays. Now however there are sequencing machines where a little reaction is done and then it is sent off. In some of these next generation sequencing, they are able to get millions of reads, that allows for the ability to do a lot of things in a different way, in a much more accurate way. Even though it can be a long and tedious process, the discoveries are worth it. She comparing the tedious and long processes to the valleys, that can sometimes be very low, long valleys and the discoveries, the peaks, that make going through the valleys worth while.

Similar Documents

Free Essay

Spina Bifida

...for our family had turned into a mother’s worst nightmare. My baby sister, Amanda, was born with Spina Bifida. Our nervous system develops from a plate of cells along the back of an embryo. Early in development this plate begins to curl up, creating a neural tube, this closes to form the brain and spinal cord. As development progresses, the top tube becomes the brain and the remainder becomes the spinal cord. This process is usually complete by the 28th day of pregnancy which is usually before most women even know they are pregnant. If problems do occur during this process, it can result in brain disorders called neural tube defects, including Spina Bifida. Spina Bifida which literally means “cleft spine” is the incomplete development of the spinal cord or its coverings. Spina Bifida is the most common neural tube defect in the United States, affecting more then 1,500-2,000 infants born each year. There are three types of Spina Bifida. The most common and least serious of the three is Spina Bifida Occulta. With Spina Bifida Occulta there may be a patch of hair or dimpling of the skin where the vertebrae have failed to fuse. The person will only have one or more malformed vertebrae, which can only be discovered on x-rays and the person may never even know they have this condition. The least common type of Spina Bifida is Spina Bifida Meningocele. A patient with Spina Bifida Meningocele will have meninges that protrude through the opening of the vertebrae causing a lump......

Words: 854 - Pages: 4

Free Essay

Spina Bifida

...Spina Bifida Spina Bifida is a birth defect that occurs during your pregnancy. It affects the spinal cord and if they find out before the birth they will deliver the fetus by C section. They like to deliver the fetus this way so as not to damage the spinal cord any further. The spinal cord has an opening and it must be closed as soon as possible to prevent infection. The spot that the opening happens on is the area of the body that will be affected. If the opening was high on the spinal cord the area that will be affected is the brain, if it is low on the cord the part of the body that is affected will be the bladder and kidneys. Surgery is done only to close the opening, what doesn’t work before the surgery will not work after the surgery it is only done to ward off infection. The baby has to be evaluated to see if it will need a shunt to control fluid in the brain area. The babies that have this condition need to get the fluid drained and this condition is called hydrocephalous. Most babies and children have to wear shoes on their feet all the time because they have no feeling in the bottom of the feet and can’t tell if it is hot or cold, so in winter they could get frostbite and in summer they could burn their feet on the hot pavement. This disease is not curable at this time only its symptoms are managed if they can be. The Federal Government, the National Institute of Neurological Disorders and Stroke a component of the National Institute of Health supports...

Words: 908 - Pages: 4

Free Essay

Anencephaly

...develop “Fibro vascular tissue with scattered islands of neural elements” (Behrman). This malformation of the brain and the cranial vault causes many of these children to be still born (Elwood & Lemire). According to the Centers for Disease Control, “3 pregnancies in every 10,000 in the United States will have anencephaly. This means about 1,206 pregnancies are affected by these conditions each year in the United States”(CDC). The unfortunate infants who live momentarily experience sepsis, pneumonia, or atelectasis(Behrman). Its pathology is unclear, however, researchers believe genetics and nutrition are contributing factors (CDC). Children with Anencephaly experience abnormalities of, “Congenital talipus, equinovarus or valgus, spina bifida, cystic kidneys, cystic liver, high palate with cleft, diaphragmatic hernia, immature lungs, thymic hyperplasia, megaoesophagus, hypertrophy of bladder and hypoplasia of epididymis, hypoplatic lungs, syndactyly, cyclopia, club foot, cleft palate, imperforate anus, renal defects, cardiac defects, large thymus, absence of thumb and radius, large thymus, and reduced size of adrenal gland (Jones). Those full term infants who live for few days facing an agonizing painful future of secondary neuroendocrine defects such as, “Hypo plastic pituitary, adrenal insufficiency, adrenocortical hypoplasia, and clinical diabetes insipidus”(Forfar). The greatest incidence of Anencephaly is in Great Britain and Ireland Lemire & Melnick). Asia,......

Words: 897 - Pages: 4

Free Essay

Neurobiology

...Two different neurological disorders that can occur in development and how they affect development. The National Institute of Neurological Disorders states that spina bifida, which means cleft spine, is characterized by the incomplete development of the brain, spinal cord, and/or meninges (the protective covering around the brain and spinal cord. There are four types of spinal bifida: occulta, closed neural defects, meningocele, and myelomeningocele. Occulta is the mildest and most common form in which one or more vertebrae are malformed. Closed neural tube defects make up the second type of spina bifida. This form consists of a diverse group of defects in which the spinal cord is marked by malformations of fat, bone, or meninges. The third type is, memingocele, spinal fluid and meninges protrude through an abnormal vertebral opening. And the most severe and occurs when the spinal cord/neural elements are exposed through the opening in the spine is called myelomeningocele. The effect it has on development is that it can range from minor physical problems with little functional impairment to severe physical and mental disabilities. Spina bifida’s impact is determined by the size and location of the malformation, whether it covered, and which spinal nerves are involved. Also, most people with spina bifida are of normal intelligence. The national Institute of Neurological Disorders states that cerebral palsy refers to any one of a number of neurological disorders that......

Words: 437 - Pages: 2

Premium Essay

Spina Bifida

...In a year as many as 3,000 or more newborn babies out of 4 million in the United States are diagnosed with a birth defect called Spina Bifida. The term spina means spine, and bifida means split or open. This birth defect occurs in the first trimester during pregnancy, it involves poor development of the spinal cord. It begins when the two sides of the embryos spine fail to join together, leaving an opening area. The condtion is detected before the baby is born and is treated right away.             As I began to read more about Spina Bifida I learned that January is the month of birth defect prevention and immediately I wanted to know what caused the incomplete development of a fetus. Luckily it wasn't hard for me to find something recent, and interesting that caught my attention. The Dallas Weekly newspaper website had an article in which the title said it all, "Parkland prenatal care helps prevent birth defects". According to the providers at Parkland Health & Hospital System, if women who are expecting take certain amounts of folic acid, it can prevent serious birth defects to their baby’s brain and spine, abnormalities known as neural tube defect that occur in the first few weeks of gestation.             Since 1992 the U.S Public Health Service has been recommending pregnant women to take 400 micrograms of folic acid per day. Folic acid is a B vitamin that everybody needs for normal growth and development, it is easily known as a prenatal pill but not all......

Words: 492 - Pages: 2

Free Essay

Interview

...1ST INTERVIEW Cristian Rodriguez Valerie Paredes Psychology of disability- REHS 2331.901L As many as one in five American women are living with a disability. Disabilities may present challenges, but many people can and do enjoy full, productive lives. Here to tell us about her experience living with spina bifida myelomeningocele is my neighbor’s daughter. At the age of 24, she is committed to educating others about spina bifida. What is the diagnosis of your disability? I was diagnosis with spina bifida myelomeningocele since I was born. Spina bifida literally means “split spine.” Spina bifida happens when a baby is in the womb and the spinal column does not close all of the way. Myelomeningocele is the most severe form of spina bifida. With this condition, part of the spinal cord and nerves come through an opening in the baby’s back. It causes nerve damage and other disabilities. What was it like growing up with spina bifida? There is really only one word that best describes my experience growing up with spina bifida, and that word is “difficult.” I chose that word because growing up with spina bifida was a learning experience for me and my family. My parents and I had to learn about this disability and everything that came along with it. I was also in and out of the hospital for a variety of surgeries for the first seven years of my life. This caused me to fall behind in school because I would miss so much while I was away. I didn’t have anyone at school I could......

Words: 684 - Pages: 3

Premium Essay

Scoliosis

...condition making the argument against the city that she is a handicap invalid. Technically she’s not a handicap- If you can no longer work due to scoliosis, you may be eligible to receive Social Security Disability benefits which she did not apply for at the time. Scoliosis is a lateral (toward the side) curvature in the normally straight vertical line of the spine. When viewed from the side, the spine should show a mild roundness in the upper back and shows a degree of swayback (inward curvature) in the lower back. Types of Scoliosis – conditions 1. Neuromuscular scoliosis. A result of abnormal muscles or nerves. Frequently seen in people with other disorders, including other birth defects such as muscular dystrophy, cerebral palsy, Spina bifida or Marfan syndrome (an inherited connective tissue disease) those with various conditions that are accompanied by it, result in, paralysis. : In this type of scoliosis, there is a problem when the bones of the spine are formed. Either the bones of the spine fail to form completely or they fail to separate from each other during fetal development. People with these conditions often develop a long C-shaped curve and have weak muscles that are unable to hold them up straight. If the curve is present at birth, it is called congenital. (Congenital scoliosis caused by a bone abnormality present at birth .This type of scoliosis is often much more severe and needs more aggressive treatment than other forms of scoliosis. *......

Words: 1161 - Pages: 5

Free Essay

Importance of Folate

...by the energy-yielding nutrients- carbohydrate, fat, and protein. Folate is one of the B-vitamins that help in cell multiplication. It is important in the development of red blood cells and the cells lining the GI tract. The need for folate increases during the time of pregnancy as much cell multiplication is occurring. Folate supplements should be taken by women of childbearing age and continued throughout the first trimester of pregnancy. It is important for women to take them at these points to help prevent against neural tube defects. The neural tube is the embryonic tissue that forms the brain and spinal cord. Neural tube defects are when there are malformations of the brain or spinal cord. The two main neural tube defects are spina bifida and anencephaly. Each of these defects begin in the early stages of pregnancy and can be prevented with the use of folate supplements. It is recommended that women of childbearing age consume four hundred micrograms of folate daily. To meet the daily recommended value, women between the ages of fifteen and forty-five years old should eat folate-rich foods, folate-fortified foods, and take a multivitamin each day. Another way one can reach the recommended value is by consuming at least five servings of fruits and vegetables a day. I think the recommended value for folate is not known. I do think that people are aware, however, of the benefits of folate and are actually using it. Evidence can be seen by the lowered number of......

Words: 329 - Pages: 2

Free Essay

Bussiness

...Bussiness letter #2 By: Jason Anderson Bussiness Communication Aboriginal Community Development For: Laura Chartrand Due: November 6, 2012 November 2, 2012 Ms. Helen Sklarz Director of Development Spina Bifida & Hydrocephalus Association of Ontario P.O. Box 103, Suite 1006 555 Richmond Street West Toronto, Ontario M5V 3B1 Dear Ms. Kendzierski: Re: School Practicum Position While researching the AFM website, I discovered you are hiring practicum students for the position of Residential Care Worker. I know your facility is highly regarded, and I would be pleased if I were given the opportunity to do my school practicum for your organization during the months of May and June 2013. I am currently enrolled in the Aboriginal Community Development Program at Assiniboine Community College. The program is centered around First Nations and Métis issues, you learn how to refer individuals to appropriate services, assist in solving local problems, and organize activities that promote the Aboriginal way of life. I have been working with Brandon Community Options for the past year. During this time, I have come across many individuals who have been facing many forms of crisis in their lives. I have always managed to provide exceptional support to each and every client in complex situations. I understand this type of employment brings in a lot of stress which I am able to cope with. I am passionate about bringing happiness into other people’s lives......

Words: 282 - Pages: 2

Free Essay

Neural Tube Defects

...Neural tube defects are defects of the brain, spine or spinal cord itself. A neural tube defect happens in the first month of pregnancy usually. The women at that point will most likely not even know that she is pregnant. There are 4 main kinds of neural tube defects. Occulta is the most common type of neural defect. With this defect there is a layer of skin covering the opening of the spine. Unlike the other forms, it causes less issues. There is rarely symptoms. A neural tube defect can be diagnosed prenatally with a sonogram or ultrasound. I have done some research online and have looked at some of the images. All seem to have a very distinct abnormality or growth. It is something that with this kind of technology and a good eye and knows what they are looking for, could prevent an embryo from becoming a fetus and then a child that may or may not have a long term disability that could hinder them from being able to take care of themselves or even be mobile at all. I know the article said that they can’t see these abnormities until the 17th and 20th week but when I was pregnant there was a specific test for the, which they do mention, that measured the protein AFP. I do believe they can sometimes find out earlier than mentioned here. Anencephaly is the neural defect that I chose. It is the most interesting a heartbreaking that I have found. This defect is where the baby is born without major parts of its brain. All babies will die shortly after birth. The reason being is......

Words: 416 - Pages: 2

Free Essay

Study Review

...Exam #3 Pediatric Review Questions 1. Spastic cerebral palsy is characterized by what? 2. Are there any drugs that can decrease spasticity in a child? How would you respond to a parent asking this question? 3. What is a myelomeningocele? 4. Which problem is often associated with a myelomeningocele? 5. What is the most common problem of a child born with a myelomeningocele? 6. What is a recommendation to prevent neural tube defect? 7. How much folic acid is recommended for women of childbearing age? 8. What position do you place a neonate in to feed that has had a myelomeningocele repair? 9. What advice about the diet would you give a parent who has a child with a latex allergy? 10. What are appropriate nursing interventions for a child with latex allergies? 11. What are the clinical manifestations of a child with spinal muscular atrophy (Werdnig-Hoffman disease)? 12. What is the management plan for a child diagnosed with pseudohypertrophic (Duchenne) muscular dystrophy? 13. Therapeutic management of a child with tetanus includes the administration of what medication(s)? 14. Select all that apply: care of a child after a spinal cord injury would include what nursing interventions? 15. How does immobilization affect the metabolism? Increase or decrease the metabolism? 16. How does immobilization affect the cardiovascular system? It causes…. 17. What can result from the bone demineralization associated with immobility? 18. What would you do for a child who......

Words: 602 - Pages: 3

Free Essay

Genoma Humano

...Genoma Humano: Intervencion de la genética en la salud y la enfermedad. La enfermedad de Huntington (EH) es una enfermedad hereditaria que provoca el desgaste de algunas células nerviosas del cerebro. Las personas nacen con el gen defectuoso pero los síntomas no aparecen hasta después de los 30 o 40 años. Los síntomas iniciales de EH pueden incluir movimientos descontrolados, torpeza o problemas de equilibrio. Más adelante, la EH puede impedir caminar, hablar o tragar. Algunas personas dejan de reconocer a sus familiares. Otros están consientes de lo que los rodea y pueden expresar sus emociones. ¿Cómo se hereda la enfermedad de Huntington? La EH se encuentra en todos los países del mundo. Es una enfermedad familiar, transmitida de padres a hijos por medio de una mutación o error ortográfico del gen normal. Un solo gen anormal, la unidad biológica básica de la herencia, produce la EH. Los genes están compuestos de ácido desoxiribonucleico (ADN), una molécula con forma de escalera en espiral. Cada escalón de esta escalera está compuesto por dos pares de sustancias químicas llamadas bases. Hay cuatro tipos de bases—adenina, tiamina, citosina y guanina—cada una abreviada por la primera letra de su nombre: A, T, C, y G. Ciertas bases siempre se "aparean", y combinaciones diferentes de pares de bases se unen para formar mensajes codificados. Un gen es una larga serie de este ADN en diversas combinaciones de A, T, C, y G. Estas combinaciones únicas determinan la función del gen...

Words: 3156 - Pages: 13

Free Essay

Disease and Disorders of Skeletal System

... Osteoporosis Osteoporosis is a disease resulting in the loss of bone tissue. In osteoporosis, the cancellous bone loses calcium, becomes thinner, and may disappear altogether. Sprains A sprain is an injury to a ligament or to the tissue that covers a joint. Most sprains result from a sudden wrench that stretches or tears the tissues of the ligaments. A sprain is usually extremely painful. The injured part often swells and turns black and blue. Fractures A fracture is a broken bone. These are some common kinds of fractures: - closed, open, multiple, comminuted, greenstick and spiral Spina bifida Spina bifida is a spinal defect that is present at birth. In spina bifida, the spinal cord does not form properly and the vertebrae and skin cannot form around it. Spina bifida results from an error in the development of the embryo that occurs about a month after a woman becomes pregnant. This error may have various causes, including the use of alcohol or certain medications by the pregnant woman or exposure to extreme heat. Genetic factors appear to be very important. Scurvy Scurvy is a disease caused by lack of ascorbic acid (vitamin C) in the diet....

Words: 624 - Pages: 3

Premium Essay

Helllooo

...usually 95% of the time the baby will turn around closer to birth. * Dr. Cohen identified the placenta which feeds the baby oxygen and nutrients. He also identified the cerebellum which is hotdog shaped and is very important. If the cerebellum is normal you have a lower risk of spina bifida. He also identified the spine, heart and the thigh joints of the baby. * The important health information that is learned is that they make measurements of the limb lengths, if the femur length/thigh bone length is short; it is associated with Down syndrome. #4 on page 6; Describe two structural abnormalities and/or markers of chromosomal abnormalities discussed by Dr. Cohen as he performs the ultrasound. * Down syndrome is one of the abnormalities that Dr. Cohen discussed. Down syndrome is a genetic chromosome 21 disorder causing developmental and intellectual delays. As I described in the last answer of #3, if the thigh bone length is short it can be associated with Down syndrome. They can also do a blood test on you to determine the number of chromosomes and see if they have down syndrome or not. * Spina bifida is one of the other abnormalities that Dr. Cohen mentioned. Spina bifida is a birth defect in which a developing baby's spinal cord fails to develop...

Words: 301 - Pages: 2

Premium Essay

Ethical Issues

...disabilities should have the same rights and protection as babies without disabilities? Should the abortion law be changed? The Golden Rule Is there an alternative to fretting over women’s rights, and whether fetuses are people? The utilitarian philosopher Richard Hare believed so. He argued from the Golden Rule; “Treat others as you would wish to be treated in the same situation”. Since most mothers would not have wanted to be aborted when they were fetuses, abortion is, on the face of it, wrong; even for a fetus with spina bifida who is likely to be handicapped, because if we were that fetus we would choose life in a wheelchair rather than no life at all. But imagine that the mother plans a family of just one child. If she carries this pregnancy she will bear a child with spina bifida. If she aborts she can have a normal child who would not otherwise exist. That “replacement” child would wish the abortion to happen. The mother cannot act as both the spina bifida and the replacement child would wish. Hare asks what you would choose if you had to live through the lives of both...

Words: 847 - Pages: 4