This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern.
Introduction: Myelomeningocele , commonly known as Spina Bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28 days of gestation. The overlying bones and skin are incompletely formed and the underdeveloped area of the spinal cord is exposed on the surface of the back. It is the most common multicomplex birth defect affecting the central nervous system that results in permanent disability . With advances in treatment modalities, technologies and scientific breakthroughs, persons with spina bifida in the US are living well into adulthood. Myelomeningocele management includes life -long comprehensive neurologic, urologic, musculoskeletal , skin and habiliation management.
Registered Nurses and the Neonatal Specialty On August 7, 1963, Patrick Bouvier Kennedy, was born 5 ½ weeks premature [37 weeks]. He weighed 4 pounds 10 ½ ounces, but succumbed 39 hours after birth to “hyaline membrane disease, now known as respiratory distress syndrome [RDS]” (James 1). Today, this baby would have lived. However, in 1963 “about 25,000 children a year died because medical science lacked the skills and the specialized equipment needed to save them” (James 1). “By 2002, fewer than 1,000 babies a year die[d] of respiratory distress” (Philip 807) and “doctors can now save preemies as young as 23 and 24 weeks with the use of the protein surfactant, ventilators, and advanced technology known as continuous positive air pressure” (James 3).
“1 in 17,000 boys have ALD and two of them are mine,” states Janelle Syverson. Adrenoleukodystrophy is a disease that is inherited from the mother to her son through the X chromosome. The disease has affected both of Janelle’s sons and unfortunately one of her sons, PJ, died this past February from this horrible disease. ALD does not allow the breakdown of certain fats from a long chain of fatty acids, which in turn affect the myelin and can cause the myelin to deteriorate. In return this affects the males cognitive behavior and will cause the child to go into a vegetative state within two to five years after diagnosis.
Approximately one-half of the people with the major form of PKD advance to kidney failure, also known as end-stage renal disease. Approximately 500,000 people in the US have PKD and is the fourth leading cause of kidney failure. PKD can cause cysts to grow in the liver and in other organs; i.e. the heart and blood vessels in the brain. These complications assist doctors in distinguishing PKD from mostly harmless cysts that can form on kidneys later in life.
This disease lasts a lifetime and usually gets worse with time. According to thoracic.org, “Cystic fibrosis affects at least 30,000 people in the United States; between 900 and 1,000 new cases are diagnosed every year. One in 29 people of Caucasian ancestry is an unaffected carrier of the CF gene mutation.” Although Cystic fibrosis is more commonly found in white people, there is no scientific evidence or answer on why so many Caucasian people have this disease. According to Ms. Judy Monroe, “…tissue in the pancreas becomes scarred and damaged. Healthy tissue also is replaced by cysts, or small holes filled with fluids.” CF affects the transport of salt and water across cells.
There’s a 25% chance for a normal child, a 50% chance for a child with achondroplasia and a 25% chance the child will have two achondroplasia genes. When either or both parents have achondroplasia, prenatal testing is typically done. There are two types of Achondroplasia: homozygous and heterozygous. In homozygous it is termed “fatal” as there rare two copies of the defective gene. There are severe breathing problems and hydrocephalus that lead to an early death.
Hannah Beauregard Every year about 500,000 babies are born premature, that 's 1 of every 8 infants born in the U.S. When a baby is premature that means the baby was born before 37 weeks of pregnancy when a full term of pregnancy is 40 weeks. (Premature babies, medline plus) Because of infants being born so early and not fully developed they have a much higher chance of have some health related issues. A few examples are Respiratory Distress Syndrome, Chronic Lung Disease, and Retinopathy of Prematurity, Patent ductus arteriosus, in some cases a baby that is born premature may not survive. Premature babies are usually placed in the intensive care unit (ICU).
The most important thing anyone needs to know about Senioritis, is that it does the most damage. The severity of this symptom determines the patient’s outcome. Other than procrastination, Senioritis also comes with physical and emotional stress. First comes the inflammation to the productivity part of the brain which causes the patient to develop an allergy to writing down their ass ignment. Since the patient is unable to write down their assignments it causes them to have a “heart attack” - a painful sensation due to forgotten assignments.
You also can’t go out and have fun and be involved with any activities. The mid-life time when things were at their best peak and working perfect goes downhill faster than ever. You require others help sometimes and need medication, glasses, hearing aids and other things to help with certain functions your body no longer supplies or supports you with. The complete loss of your capabilities comes into play. If you have a family, that’s usually the only thing you have hope in and find interest in.
Prader-Willi syndrome Ashleigh Hughes Prader-Willi syndrome is a rare genetic disorder, that affects development and growth. It is estimated that 1 in 15,000 people ae born with PWS. Girls and boys are both equally affected. There is no cure for the disorder, however professional heath care can improve the child’s quality of life. Prader-Willi syndrome is a life long genetic disorder, where seven genes on chromosome 15 are deleted.
“It was the best of times; it was the worst of times.” The summer before sixth grade I discovered I had a severe case of Scoliosis. I had an 80 degree curve in addition to my spine being twisted. However; the most devastating thing about it was not fixable with a brace. My pre-teen life consisted of copious amounts of MRI’s, consultations, and doctors appointments. During my consultations, I had the choice of the “big” surgery, where they fix it all at once, or the multiple surgeries where the surgeon would fix one vertebrae every six months.
Stroke may be somewhat unlikely to happen in children but when it does happen it has a significant impact because it can cause morbidity and mortality. Children’s strokes can present differently than adult. Also according to the “Pediatric Stroke: A Review”, “The reported incidence rate of both ischemic and hemorrhagic pediatric stroke ranges from 1.2 to 13 cases per 100,000 children under 18 years of age”(Tsze & Valente 1). Nevertheless, Pediatric CVA is more familiar than we can imagine, because of the misdiagnoses. In one report, it is said that 19 out of 45 children with a stroke did not obtain the accurate diagnosis until 15 hours to 3 months after initial presentation.
However, the disturbing fact is that 10 - 20 million Americans have kidney problems. Some 7 million only have half the kidney function of a young person in their early twenties. Considering this can range from being an uncomfortable or debilitating condition to a
Animal rights companies have that the tests will not always deliver accurate results. If we inject an animal with a strain of a disease and find a cure that works for that animal how do we know that it will on humans? “The monoclonal antibody TGN1412 was safe in monkeys at five hundred times the dose tested in humans, yet all six British volunteers who received the drug in 2006 nearly died. Conversely simple aspirin produces birth defects in at least 7 animal species yet is safe in humans. Every 1 of 197 human trials using 85 HIV/AIDS vaccines tested have failed.