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6 pages/β‰ˆ1650 words
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Style:
APA
Subject:
Health, Medicine, Nursing
Type:
Research Paper
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English (U.S.)
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Topic:

Genetic Disorder: Spina Bifida Medicine, Nursing Research Paper

Research Paper Instructions:

Briefly describe disorder. Include clinical presentation, pathophysiology, usual age of onset and all relevant ethnic/cultural/risk information.
Discuss the genetic issues involved in the disorder. Include the type of trait or mutation. Recommendations for familial genetic testing, if any Discuss the diagnostic process, medical management and prognosis of the disease. Include gene therapy if available.
It must include: Abstract In-text Citations, References must be from evidence-based scholarly, peer reviewed journals 2014-present. I added some journals that might be beneficial and will like them to be included on the paper. If you have any problems please contact me.
Thank you!

 

(Simeone et al., 2015)

(Bodin et al., 2018)

(Panda et al., 2019)

Bodin, C. R., Rasmussen, M. M., Tabor, A., Westbom, L., Tiblad, E., Ekelund, C. K., Wulff, C. B., Vogel, I., & Petersen, O. B. (2018). Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden. BioMed Research International, 2018, 1–8. ccm. https://doi.org/10.1155/2018/9203985

Panda, P., Mallik, K., Patel, R., & Barik, M. (2019). Molecular basis of spina bifida: Recent advances and future prospectives. Journal of Pediatric Neurosciences, 14(1), 16–19. ccm. https://doi.org/10.4103/JPN.JPN_20_19

Simeone, R. M., Feldkamp, M. L., Reefhuis, J., Mitchell, A. A., Gilboa, S. M., Honein, M. A., & Iskander, J. (2015). CDC Grand Rounds: Understanding the Causes of Major Birth Defects—Steps to Prevention. MMWR: Morbidity & Mortality Weekly Report, 64(39), 1104–1107. ccm. https://doi.org/10.15585/mmwr.mm6439a3

 

Research Paper Sample Content Preview:

Spina Bifida.
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Abstract
Spina bifida is a genetic issue that grows for the most part during an infant age. It is a phenomenon where a collection of cells known as the neural tube, which should form into the cerebrum and the spinal cord, fails to completely enclose during the underlying long stretches of early stage improvement. Thusly, when the spine finally fully develops, the bones that establish the spinal section fail to totally collect near creating nerves of the spinal cord. The noteworthy consequence of the turmoil is that the affected spinal cord plunges via an opening situated in the spine, causing a permanent damage of the nerve. This paper utilizes evidence-based scholarly journals, articles written on books on the topic and other materials to examine spina bifida as a genetic issue, problems associated with the disorder, its pathophysiology, and patterns of inheritance, diagnosis and treatment.
Description of the Disorder
Background.
Spina Bifida is a genetic ailment that takes place in varying capacities seriousness and severity. It is categorized under the issues of the neural tube. There are numerous presentations of neural tube disorders ranging from stillbirth to incidental radiographic findings of spina bifida occulta. One form of spina bifida called Myelomeningolece is seen at birth (Panda et al., 2019). People suffering from this type of disease exhibit a plethora of impairments, but the principal functional deficits are the paralysis of the lower limb, loss of senses, bladder and bowel dysfunction, and cognitive dysfunction. Both genetic and environmental factors primarily cause the disorder. In a case that a mother births a child with the turmoil in their first pregnancy, there is a guaranteed 5% chance that the second child will be affected. The condition will be carried forward by a folic acid deficiency.
Figure 1. The image shows the lumbar region of baby myelomeningocele.
Risk Factors.
Spina Bifida is more prevalent among white people and Hispanians compared to other groups of people around the world. Moreover, females have higher risks of being infected compared to males (Panda et al., 2019). Doctors have identified several risks associated with the disorders, and the following are just a number of them.
* Folate Disorder- Vitamin B-9 is formed during the growth of the baby as folate. It also presents itself in food and supplements like folic acid (Simeone et al., 2015). The deficiency of the substance increases the risks of spina bifida.
* Background of the Family- A family that has had a baby born suffering from a neural tube abnormality has an elevated risk of giving birth to a second baby with the problem. Additionally, a mother who was born to a family with a history of neural tube defect has a high chance of infecting her babies.
* Specific Medications- If a mother takes certain medications such as valproic acid during pregnancy, they risk developing neural tube defects.
* Diabetes- Women suffering from diabetes have higher chances of developing spina bifida.
* Obesity- Women with obesity before and during pregnancy have higher chances of developing neural tube defects such as spina bifida.
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