Progeria - Hutchinson-Gilford Progeria Syndrome

The US Trends | Progeria - Hutchinson–Gilford Progeria Syndrome | Progeria (also known as "Hutchinson-Gilford Progeria Syndrome", "Hutchinson-Gilford syndrome," and "Progeria Syndrome") is an extremely rare genetic disease with symptoms that resemble aspects of aging, occurring at an early age. The word progeria is derived from the greek "pro" means "before" and "Geras" means "old age". The disease has a very low incidence and occurs in about 1 in 8 million live births. I was born with progeria typically live their teens and twenties. It is a genetic disease that presents itself as a new mutation (de novo), and is not hereditary. While the term progeria is, strictly speaking, all the diseases characterized by symptoms of premature aging, and is often used as such, is often applied, in particular reference to the syndrome of Hutchinson-Gilford Progeria.



Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging. Progeria was first described in 1886 by Jonathan Hutchinson. It was also described independently in 1897 by Hastings Gilford. The condition was later named Hutchinson-Gilford Progeria Syndrome (HGPS).



The earliest symptoms include failure to thrive and a localized scleroderma-like skin condition. As a child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristics of progeria. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, hair loss, and cardiovascular problems. It is not transferred by the offspring.


A child with this condition show signs of symptoms is usually around 18-24 months. After birth a healthy baby in the research, its size and weight suddenly, below the average for their age. People generally maintain normal mental and motor development. There are many signs and symptoms of this progressive disease, and tend to worsen as the child grows. The appearance of the face is often wrinkled, with a larger head relative to its body, with a narrow face and beak nose. The child experiences the whole body alopecia. Scleroderma, a hardening and narrowing of the skin on the trunk and limbs of the body, is also widespread. As experience hair loss, scalp veins are visible and prominent bulging eyes. Musculoskeletal degeneration causes loss of body fat and muscle, joint stiffness, hip dislocations, and other symptoms usually absent in non-elderly population. - THE US TRENDS

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Capsule Endoscopy Offered by US Hospitals

A gastroenterologist and endoscopist at Davis Memorial Hospital in Elkins, W.Va., is now offering capsule endoscopy for the detection and diagnosis of small intestinal disorders, including small bowel tumors and Crohn's Disease, according to a WBOY news report.


Nitesh Ratnakar, MD, said capsule endoscopy is a minimally invasive procedure that does not require sedation or any recovery time. The pill, which is approximately the size of a large vitamin, passes through the body between 24-48 hours. The images from the pill are captured and delivered wirelessly to a data recorder patients wear outside their clothing, according to the news report.



A less invasive procedure that means no sedative or recovery time is now available at Davis Memorial Hospital.


With this technology, patients swallow a pill about the size of a large vitamin and they continue their day in a normal manner.


Dr. Nitesh Ratnakar is a gastroenterologist and endoscopist at Davis Memorial Hospital in Elkins. His office recently began using the Pillcam for detection of small intestinal disorders.


"Its non invasive, out patient, and it gives us a lot of information about the diseases of the small bowel," said Ratnakar.


The mini camera capsule contains state of the art technology. Before this technology, doctors had to conduct an X-Ray test. Now patients swallow the camera, and for the next eight hours up to 50,000 pictures are taken of the patients small intestines.


The photos are wirelessly transmitted to a data recorder attached to a belt patients wear on the outside of their clothing.


The technology is used to help diagnose small bowel disorders or conditions such as Crohn's Disease, causes of anemia, and small bowel tumors. Ratnakar calls this procedure helpful because images of the small bowel are difficult to capture.


"This is a leap from that point where we are directly able to visualize the inside lining of the bowel and its quite exciting technology, It's a stepping stone to future robotic medicine," said Ratnakar.


About a dozen procedures have been done so far, and patients are pleased with it.


"Patients love it. They like the convenience, they come to my office in the morning and swallow the capsule and we give them instructions. They go about their daily manner they come back in the evening return our receiver, and we call them a few days later with results, so it's been well accepted," said Ratnakar.

Source:

• WBOY 
• Becker's ASCReview
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