Progeria is a rare, fatal, genetic condition that comes from the Greek word progeros meaning prematurely old. In the greek language, the word ‘pro’ means before and the word ‘geras’ means old age. Another name for progeria is Hutchinson-Gilford Progeria Syndrome. Hutchinson-Gilford Progeria Syndrome (HGPS) was first described in 1886 by Dr. Jonathan Hutchinson and also in 1897 by Dr. Hastings Gilford in 1897 – both in England.
Hutchinson- Gilford Progeria Syndrome is reported about 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome equally affects both sexes and races of children and gives them an appearance of rapid aging (Nordqvist 1). The symptoms of this disease show around eighteen to twenty-four months of age. Some of the symptoms are growth failure during the first year of birth, narrow shrunken or wrinkled face, baldness, loss of eyebrows or eyelashes, macrocephaly, open soft spot, small jaw, dry scaly skin, limited range of motion, and delayed or absent teeth (Brown).
To help with the diagnoses of this disease, an overall look of the symptoms are used and radiography is also used. Radiography is used to determine bone density and body composition, such as body fat and muscle. For example, when taking x-rays of the skull, the craniofacial bones are disproportioned and when taking x-rays of the hands, the terminal phalanges are radiolucent (Sarkar,Shinton 312). Blood tests are done to analyze cardiovascular risk factors and blood counts, urine tests are done for sugar and proteins, photographs to study growth problems, EKG and heart ultrasound to study the heart and blood vessels, lung function tests to measure energy consumption and lung capacity, hearing tests, skin biopsy to examine cellular ch...
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...uture looks promising for a treatment or cure to help these children live a longer life.
Works Cited
Brown WT. Progeria. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 90
Nordqvist,Christian. "What Is Progeria?." Medical News Today. MediLexicon, Intl., 13 May. 2009. Web.
20 Feb. 2012. http://www.medicalnewstoday.com/articles/146746.php
Parker, James N., and Philip M. Parker. Progeria: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References. San Diego, CA: ICON Health Publications, 2004.
Progeria." Progeria Research Foundation. Lustig,Megan, 14 Feb. 2000. Web. 20 Feb. 2012. .
Sarkar, P., and R. Shinton. "Hutchinson-Guilford Progeria Syndrome." Hutchinson-Guilford Progeria Syndrome (2001): 312-17.
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
The New England Journal of Medicine -- February 1, 1996 -- Vol. 334, No. 5
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
P3 – Describe the investigations that are carried out to enable the diagnosis of these physiological disorders
over time in order to offer a correct diagnosis, because the various symptoms must be present in
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.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
The doctor may also perform biochemical marker tests on the blood and urine which can give an indicator of the rate of loss or regeneration of bones. X-ray and Vertebral Fracture Assessments (VFAs) can also be performed to establish if there are any cracks in the spine. Other tests that the doctor can carry out include CT scan and MRI to get a clear picture of the internal bone structure including the possibility of changes that may have been caused by conditions such as
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.
2.Dietz. WH and Gortmacher, SL (1985) Pediatrics, 75,807-812; and Tucker, L.A. (1986) “Adolescent”, 21, 7970806.
The first component of the MUST involves measuring the patient’s height and weight to establish their Body Mass Index (BMI). BMI is the’ relationship b...
... Medicine. 3rd ed. Vol.3. Detroit: Gale, 2006.2139-2141. Gale Virtual Reference Library. Web. 3 Apr. 2014.
...ce of mortality, education can also be given to them about healthy child development and what to expect when they deliver their child. This can help reduce the amount of children becoming ill. A program such as the one described can have a positive impact and has the potential of saving millions of lives.
Sharing certain aspects of practice with other disciplines of pathology like clinical pathology, anatomic pathology, biochemistry, and molecular biology, molecular pathology seeks to understand and diagnose, at a molecular level, the mechanisms and origins of diseases (Harris and McCormick 2010). Through patient samples tests are carried out to measure
There are different ways to determine your body composition and the risks that they involve. In this lab, body measurements are taken to find the body percent fat, waist-to-hip ratio, body mass index (BMI), and basal metabolic rate (BMR). Skin folds for the chest, abdomen, and thigh were taken for males, and triceps, iliac crest, and thigh for females. Age, height, and weight for each person were recorded as well as the waist and hip circumference.