Introduction
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.
What Is Hutchinson-Gilford Progeria Syndrome?
Hutchinson-Gilford Progeria Syndrome (Progeria or HGPS) is a rare genetic mutation that is characterised by premature aging. Only 40 cases have been recognized worldwide. It is characterised by medical features that develop in childhood and they resemble some features of accelerated aging. (Eriksson, 2003) The name “Progeria” comes from the Greek and it means “prematurely old.” There are different types of Progeria, but this is the classic type and was named after the doctors who first discovered it.
What is the cause of Hutchinson-Gilford Progeria Syndrome?
This fatal condition is caused by a mutation in a gene called LMNA( Lamin-A). This gene produces a protein (Lamin-A protein) which is a foundational scaffolding that keeps the nucleus of a cell together. It is said by scientific researchers that the defective Lamin-A protein makes the nucleus unstable. This cellular instability consequently leads to the process of premature aging. (foundation, 2014)
LMNA codes for Lamin A and C, the A type Lamins are the important structural components of the nuclear envelope. The most frequent Hutchinson-Gilford Progeria Syndrome mutation is found at codon 608 (G608G). ...
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• MRI scan of the head and neck
• Lipid profile
• Echocardiogram
• Carotid duplex ultrasound examination
• Audiometry
• Hip x-ray
• Assessment for joint contractures
• Ophthalmology examination
Lastly, Progeria patients need to by all means avoid dehydration and big crowds of tall peers in order to avoid the risk of injury.
(foundation, 2014)
Can you cure Progeria?
No, there is still no cure for HGPS. It is not a hereditary condition as it happens randomly. Due to this, it is hard to find a set cure for this condition. HGPS does, however, help doctors to understand the aging process more because the premature aging of a Progeria child is identical to that of a normal human being. As said by Dr. Huber Warner, “A better understanding of the causes of this syndrome (Progeria) could lead to better insights into the mechanisms of both development and aging."
Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when
Unfortunately there is no cure for HS, only treatments. Although, some cases of Hidradenitis Suppurativa may disappear over a period of time. Antibiotics are the most common form of treatment, it comes in two forms, a pill you can swallow or an ointment applied to the affected area. A combination of the two is probably more successful. Corticosteroid injections to this area are also used to help reduce...
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
Humans undergo several stages during their lifetime including growth, development, reproduction and senescence. Senescence is defined as the deteriorative biological changes that organisms experience as they age eventually leading to death. These changes include low metabolism, a weak immune system, memory loss, poor vision and loss of hearing. Senescence begins in humans during their post-reproductive years. However, gerontology research has shown that individuals who reproduce late have longer life spans compared to individuals who reproduce early. Nonetheless, it does not indicate that senescence is inevitable. All organisms experience senescence, but at different rates and time. Many genetic diseases such as Alzheimer’s disease and Huntington’s disease are prevalent in older individuals and the symptoms being to appear in middle adulthood. The causes of genetic diseases and disabilities in older individuals are explained by three evolutionary theories: antagonistic pleiotropy theory, mutation accumulation theory and disposable soma theory. These theories suggest that favorable natural selection and heavy allocation of resources for somatic maintenance during the reproductive period decreases the chances of genetic diseases in younger individuals.
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
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.
The cause of this is caused by a defect on chromosome 4. This gene is in control for building proteins called huntingtin. Chromosome is a construction of nucleic acids and protein. It brings genetic information in the form of genes. The defect on the gene defines that specific proteins are required to make brain substances that can’t be prepared in the brain normally. This is also the result to the harm and loss of brain cells and some portions of the brain. Also there a collection of chemical called dopamine. This also causes movement problems. This damage this leads to the symptoms to the disorder known as Huntington’s disease. (Patient.Co.Uk, 2011).
Birth is a normal, physiological process, in which a woman’s body naturally prepares to expel the fetus within. It has occurred since the beginning of time. Unfortunately, childbirth has gradually evolved into what it is today - a highly managed whirlwind of unwarranted interventions. Jennifer Block, a journalist with over twelve years experience, has devoted herself to raising awareness regarding the authenticity of the Americanized standard of care in obstetrics, while guiding others to discover the truth behind the medical approach to birth in this country. In her book, Pushed: The Painful Truth About Childbirth and Modern Maternity Care, Jennifer Block brings forth startling truths concerning this country’s management of birth.
Aging occurs in every species. Over time a change occurs on a cellular level in a person’s body, which causes degenerative effects on the brain, muscles, organs, bones, hormones, and DNA. In 1991, the book Evolutionary Biology of Aging, offered the following definition of aging: a persistent decline in the age-specific fitness components of an organism due to internal physiological deterioration.1 Aging affects the body physically and mentally. Many people dread getting older due to the numerous changes the body goes through. The geriatric population experiences many pains and is inflicted with various diseases. There are a few who are lucky enough to not get diagnosed with a life altering disease, such as Alzheimer’s, type II diabetes, high blood pressure, macular degeneration, or some form of cancer. Studies have shown that genetics play a vital role in the aging process.
This is a genetic condition that is characterized by the dramatic, rapid appearance of aging beginning in childhood. Children with this condition more often have prominent eyes, thin lips, a thin nose, and protruding ears. Alopecia is also common and so is aged looking skin and joint abnormalities. Hardening of the arteries (arteriosclerosis) is also common. This increases the chances of having a heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively damaged. The average life expectancy for someone with this disease is approximately 13 years old. There is not a known cure for this disease, but medications and therapy can help alleviate
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.
An obstetrician is one thing, and a gynecologist is another. The job is combined together, but the two branches can be worked separately. An obstetrician is a physician who focuses and is trained in the management of pregnancy, labor, and pueperium (the period following childbirth). A physician who has specialized and trained in the health of the female reproductive system is a gynecologist. The reason the jobs are combined is because they’re both all about women. Obstetricians and Gynecologists are physicians who provide general medical care to women. They equip medical care associated with pregnancy or childbirth, and they diagnose, treat, and help prevent diseases, especially those affecting the female
To start this off, conception is the action of conceiving a child, and pregnancy is the period from conception to birth. They both share the same meaning: the process of getting pregnant. Conception happens when a sperm penetrates on one of the female’s eggs. Then, at around day 14 of a 28 day cycle, the egg leaves the ovary, and it is surrounded by a protective layer of cells. The fallopian tube is lined with cilia, which helps move the egg towards the womb. This is called ovulation. In the next 12-24 hours, the egg waits to be fertilized by a single sperm. The sperm then swims through the womb to meet the egg in the fallopian tube. And the sperm secretes enzymes to help penetrate the outer layer of the egg. Once the
Human beings age and they have since the beginning of time, but it remains an unsolved mystery. This enigma has remained in the dark until the recent innovations technologies have shed some light on this elusive topic; cells are the key to figuring out why humans age. Aging seems to be a relatively simple process, but the more it is studied, it is evident that it is rather complex. There are a myriad of factors that contribute to aging, but none of them can single handedly answer the question of why humans age. This age long question is at the forefront of medical research. As a result, discoveries are frequently made, which contribute to the ever growing pool of knowledge. Perhaps in time, by researching this topic, the human lifespan will lengthen and the diseases that often plague the elderly can be prevented or subdued to a greater extent. Furthermore, human aging is proven to be closely linked with illnesses such as cancer, which is why so many world class scientists are pursuing this topic. Interestingly enough, there is no universal theory that is widely accepted by the scientific community; however, there are many theories that credibly explain the science behind aging. Aging is a subject that should be studied because it directly benefits many lives, and has tangible results.
We are all victims of aging. We can witness our inevitable fates in the elderly with their wrinkled, loose skin and gray hair. You can try and mask the effects of aging, but you can never escape from it. From the moment we are born the natural process of aging begins. Its effects can be seen on our face and body as we grow from a child to an adult. Soon after our bodies have matured into young adults, the degenerative properties of aging begin to negatively impact the body. Aging goes deep beneath the superficial changes like of a balding head, wrinkled skin, or a grey head of hair. These inconspicuous changes occur inside the body affecting cells and organs such as the brain, heart, or lungs. In addition to the deterioration of health of the brain and heart; bones can become weaker and shorter and our vision and hearing impaired or even lost. There are genetic factors and environmental conditions that may contribute to the cause and effects of aging. With age, there is also an increase susceptibility to diseases, cellular damage, genetic mutations, and cancers. Although there have been many advances in medicine and technologies which have allowed us to live longer lives, aging is still an unavoidable natural process.