The only sign the baby may have of Spina Bifida is an abnormal tuft or clump hair or a small dimple or birthmark in the skin at the site of the spinal malformation (NIH). Spina Bifida have a few symptoms but it depends on which type and the intensity of the disease in the baby. Many of the symptoms the baby will experience are: loss of bladder or bowel control, partial or complete lack of sensation, partial or complete paralysis of the legs, weakness of the hips, legs, or feet of the newborn. Other symptoms can be: abnormal feet or legs, such as clubfoot and buildup of fluid inside the skull (Hydrocephalus). Spina Bifida can be diagnosed in three different ways such as: AFP test, ultrasound and amniocentesis.
RARE PEDIATRIC DISEASE DESIGNATION FOR THE POTENTIAL TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Duchenne muscular dystrophy (DMD) is a serious and rare genetic disorder characterized by progressive muscle degeneration and weakness, primarily affecting boys. According to the Centers for Disease Control and Prevention, 15 out of every 100,000 males, aged between 5 and 24 years are affected. Symptoms usually start appearing in early childhood between 3 and 5 years of age. Gradually, the disease progresses with the weakening of skeletal or voluntary muscles in the arms, legs, and trunk. Due to this progressive muscle weakness, often the patients become bound to the wheelchair at an early age.
Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan. Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature.
There are many different types of birth defects. This paper will discuss one of the more common, spina bifida, which is a type of defect most often referred to as a neural tube defect. Spina bifida directly affects the spine and is often noticed at birth. Spina bifida does not have a specific location but can appear at any location along the spine. The neural tubes are supposed to be closed; in spina bifida this process does not happen, and damage results to the nerves and spinal cord.
However, the findings of EDS contain laxity and weakness of joints. At the early age, chronic pain develop a joint disease called osteoarthritis. It has elastic skin, fragility skin, blood vessels and membranes. Tissue fragility can affected the people who have experience of bruise, bleeding and wound is not healing properly. Many people who have EDS, the symptoms can happen in childhood.
Nonfiction Critique: Phineas Gage: A Gruesome but True Story About Brain Science John Fleischman’s book, Phineas Gage: A Gruesome but True Story About Brain Science published by the Houghton Mifflin Company in Boston in 2002, is an intriguing retelling of the almost unbelievable event that literally changed the man named Phineas Gage. The author reconstructions for the reader the events that transpire before and after an iron spear-like object is rocketed through the head of Phineas Gage and how the man recovers, but also does not. Fleischman expertly walks along the line of scientific fact and interest and gruesome detail. He uses the fascinating story of Phineas Gage to analyze and deconstruct a very detailed and complex science surrounding the human brain, and makes the material readable and accessible to a younger age bracket. The use of scientific terms paired with simplistic explanations and occasional parenthetical definitions aid in the understanding of the difficult content at hand.
Closed head injuries are a type of traumatic brain injury in which the skull and dura mater remain intact. Closed head injuries are the main leading causes of death in children under 4 years old and the most common cause of physical disability and cognitive impairment in young people. Closed head injuries and other forms of mild traumatic brain injury are about 75% of the estimated 1.7 million brain injuries that occur annually in the United States. Closed head injuries may result in physical, cognitive, or psychological impairment. Closed-head injuries are caused mostly by car accidents, falls, acts of violence, and sports injuries.
Dystrophin, since it is a protein is responsible for muscle strength. Without Dystrophin the muscles will become weak. Females are the carrier of the disease, and it is passed through DNA on the recessive X chromosome. The female carrier may not have any signs or symptoms herself or have slight symptoms, but will still carry the disease and may pass it on to her male children. It is not passed on to females because females receive one X chromosome from their mother and one X chromosome from their father.
One in four elders are at risk of abuse and only a small proportion of this is currently reported (Cooper, C., Selwood, A., Livingston, G., 2008). The use of physical restraints in older adults is associated with negative outcomes: physical decline, cardiovascular stress, decreased peripheral circulation, incontinence, social isolation, loss of self esteem, and even death (Gastmans, C., 2006). However, physical restraints are sometimes necessary to protect the patient, staff, and
Due to the fact that parents cannot provide for their children, and the children are too sick or do not have the money to go to school, it is hard for their health to improve. Furthermore, “less than 50 percent of households have access to safe water and only 25 percent benefit from adequate sanitation” (“10 Facts”). Similar to the aforementioned statistic of children living with malnutrition, it is astounding that less than half the population has access to clean water. When people are not able to drink sanitary water, it has an immediate negative effect on the body. They do not receive enough supplements or minerals that are found in clean water, making them more inclined to get sick.
This Neural tube defect is not as common, but it is one of the most severe cases. Each year, about 1,000 babies are affected. Anencephaly can occur when the top portion of the spinal cord doesn’t close all the way. That baby that is born with this will have little to no brain matter. The baby may be missing some of its skull, and will have birth defects of the head and face.
If a person only has one of the DMD recessive genes in their genotype paired up with the dominative gene of not having DMD, they are only a carrier of the gene. This means that the disorder is not active in them, but if they cross with another carrier of the recessive gene there is a 25% chance of their offspring having DMD active inside of them . To better understand the patterns of Duchenne Muscular Dystrophy, see the Pedigree below which shows three generations of
Most cyanosis has to do with the lack of oxygen to the blood. Many problems can lead to lack of blood some include: problems with the lungs, airways leading to the lungs, heart problems, drug overdose, and exposure to cold water or air. One is “Tetralogy of Fallot, Which is the most common cyanotic heart defect seen in children beyond infancy. Tetralogy of Fallot is also the most common cyanotic congenital lesion that is likely to result in survival to adulthood and thus is the most common complex lesion to be encountered in the adult population after repair. The original anatomic description of tetralogy of Fallot included a tetrad of malformations: ventricular septal defect, right ventricular outflow tract obstruction, aorta overriding the ventricular septum, and right ventricular hypertrophy.” (Jacobs,
Disease Core Paper Rough Draft The media has a reputation to present and exaggerate things that are of little importance; however, in an ironic twist, it seems that the most common inherited peripheral nerve disease in the United States seems to still elude the awareness of many. Charcot Marie Tooth disease, or CMT as it is quite commonly abbreviated, is a serious genetic disease that impairs many in the country. Named for the three scientists that discovered it in the late 1800s, Charcot Marie Tooth disease actually has nothing to do with teeth, but rather a very important part of our body, the Peripheral Nervous System (“Understanding CMT”). Charcot Marie Tooth disease is a common genetic disease which provides many obstacles for those impaired, an
The main concern people seem to have on the subject is the nonexistent risk factor of vaccines being the lead cause of chromosomal mutation in young children. Aka, autism, This case however has been studied, and disproven by renowned scientists around the world with various studies. At this point this rumor’s spread can only be accounted for lack of updated knowledge on the subject. Personally it is my