Progeria, or formally known as Hutchinson–Gilford progeria syndrome, is a disease which causes early aging in children. It is non-hereditary and is an extremely rare genetic condition. Progeria has a reported incident of one in eight million newborns. Since 1886, there has only been an approximate of 130 youths that have been diagnosed with progeria. The patient’s average life expectancy is 13 years of age. However, some that are fortunate surpass this expectancy (Rathore). Progeria is in a group of rare genetic disorders, called laminopothies, which affects genes that encode proteins. Some diseases associated within this group are muscular dystrophy, lipodystrophy, leukodystrophy, diabetes and others. Malfunctioning of the arteries, or arteriosclerosis, is the leading cause of death in progeria.
There are plenty of symptoms identified with progeria. Children, at birth, appear normal with early integumentary symptoms, comparable to scleroderma. Within the first couple of years, the child’s growth rate demonstrates a noticable decrease. This results in the shortness of stature and extremely low weight. Other symptoms and effects of progeria are delayed or absent formation of teeth, observable veins, baldness, aged-looking and dried skin, and stiffness of joints.
Progeria is caused at random by a mutation which affects the nuclear membrane of the protein lamin A. LMNA is a gene that provides specific instructions in developing certain proteins. Two major proteins, found throughout most of the body’s cells, are encoded by this gene. They are prelamin A and prelamin C. The prelamin A protein has a farneysal group attached to its end which helps the protein to temporarily attach to the nuclear rim. In a normal cell, prelamin A is not a...
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... For instance, nitroglycerin relaxes muscle fibers in the blood vessels, which causes expansion and dilation. Physical therapy is also immensely crucial in helping maintain bones and muscles.
In conclusion, progeria is one of the world’s rarest disease that excessively accelerates the process of aging. Respiratory, cardiovascular and arthritic conditions are negatively affected. It is unfortunate that this life limiting disease takes children’s lives at a very young age. It is important that we help raise awareness for Hutchinson–Gilford progeria syndrome in order to progress. Although progeria still requires much more research, there are precise advancements that are being made through research. Perhaps one day researchers will find a solution to the catastrophic disease of progeria and by finding this solution it may be possible to possess the secretes of aging.
3. Effects of resistance training and Chromioum Picolinate on body composition and skelatal muscle in older men by, Campbell WW., Joseph LJ., Davey SL., Cyr-Campbell D., Anderson RA., and Evans WJ.. JOURNAL OF APPLIED PHYSIOLOGY. 86(1): 29-39,1999 January.
Hearing loss, abnormalities with pigmentation of hair, eyes, and skin, and other minor defects are some symptoms of Waardenburg Syndrome. There are many ways to diagnose the disorder and many treatments for the symptoms of it as well.
When the children are diagnosed they have a number of symptoms that point towards progeria. When they are born there is no sign that they have progeria. They look like normal babies. They start having the appearance of someone with progeria as they get into their first or second birthday. They start to loose all of their hair, including the eyebrows, their veins start sticking out like an elderly person's would. They have ears that have no ear lobes and that stick out a lot."A broad, mildly concave nasal ridge nose, prominent eyes, thin lips and micrognathia (small jaw) with a vertical midline groove in the chin."(Baek, McKenna, Eriksson, 2013) Their teeth grow slowly...
The main cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and fifty nucleotides encoded in exon eleven to be spliced out of the final mRNA and results in a protein that lacks 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has taken place, the cells begin to synthesize abnormal lamin A proteins known as Progerin. Newly produced Progerin still have the attached farnesyl group engendering the Progerin to connect to the nuclear membrane permanently. Due to thi...
Marfan syndrome (MFS) is a fairly common inherited connective-tissue disorder. The syndrome can be found in 1 in every 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than 100 years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can play a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an imperative n...
...r Progeria. Monitory for cardiovascular disease may help with managing the heart conditions that occur later in the child’s life. Some children may have coronary artery bypass surgery of dilation of cardiac arteries (angioplasty) to reduce the onset of cardiovascular disease. Physical and occupation therapy will ease stiff joints and allow more flexibility and allows children to maintain a healthy level of playtime with friends or even some sports. Regular dental visits are important and having the milk teeth extracted will help prevent problems associated with HGPS. Good nutrition for caloric building and promoting smaller meals frequently through out the day will help with energy and growth. Hydration is very important when dealing with a child suffering from Progeria; due to the thin dry skin children with progeria are more prone to become dehydrated.
Hutchinson-Gilford Progeria Syndrome is one of the world’s rarest diseases. There have been less than a hundred reported cases worldwide. Although the cause of the disease has been detected, because of its rarity, there is still no known cure for the condition. The life expectancy of a child with Hutchinson-Gilford Progeria Syndrome is 13 years. Many efforts have been made to help find a cure for this disease. The Progeria Research Fund is solely focused on raising funds towards the research for this fatal condition.
As newborn, children with Progeria usually appear normal at birth. However, within a year their growth rate slows and they soon are much smaller and weigh less than other children they age. Then later they begin to accelerate aging and some signs of progeria may start. Growth failure, Loss of body, Loss of hair, Skin starts to look aged, Stiffness in the joint, Hip dislocation, Generalized atherosclerosis, and stroke are all symptoms that child with Progeria will have. Children who suffer from Progeria are genetically susceptible to premature, progressive heart disease (Davis 2). Progeria appears to occur without cause and it is not seen in siblings of affected children. Children with Progeria have a surprisingly appearance.
The history in a family can influence many generations. Certain families have stereotypes about them based on family history. This is a real world situation; the movie The Pregnancy Project, stereotypes about teen pregnancy where shown, and how they affect people. In the Pregnancy Project, the use of Gabi’s background influenced people’s reactions because her family has a history of teen pregnancy.
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
The topic I will be discussing is a major issue today in which our society has a major problem and tends to be a sensitive topic in every category which is abortion. The views on abortion can be easily one sided with only the women’s opinion because they are the ones going through the process of, quote on quote, killing a baby. Abortion is defined as the termination of a human pregnancy, most often performed during the first 28 weeks of pregnancy, or in other terms the expulsion of a fetus from the uterus by natural causes before it is able to survive independently.
Many may argue this topic of abortion and both have strong evidence on each side of the argument to say why they are correct and why you should agree with them; some people feel that teens should be allowed while others may disagree. This paper will focus on why teens should not be allowed to have abortions and the effects of it.
Birth defect is a structural change in the body one or more parts of the body. They are presented at birth, they can have serious effect on the health, development, or function of the baby.
Preeclampsia is a serious condition that develops only during pregnancy. It is also called toxemia of pregnancy. This condition causes high blood pressure along with other symptoms, such as swelling and headaches. These symptoms may develop as the condition gets worse. Preeclampsia may occur 20 weeks or later into pregnancy.
Abortion is the termination of a pregnancy by the removal or expulsion of a fetus or embryo from the uterus before viability (dictionary.com). Those who disagree with abortion think that this is not right, mid evil and a form of murder. All of those thoughts are correct; abortion is the act of removing a fetus from the protection of the mother’s uterus. However, is it not the duty of the mother to protect her unborn child? In this day in age, we are still allowing this barbaric method of ending a pregnancy to happen despite the many alternatives. If an unexpected pregnancy should occur, abortion should not the only option. There are many reasons why abortion should not be illegal in all parts of the world, and people need to know the options available. Adoption is certainly a strong option in a world wanting for children. Abortion is not a method of birth control and people need to be educated on pregnancy prevention and take on some responsibilities.