Progeria historical perspective: Difference between revisions
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*[[Hutchinson-Gilford progeria syndrome]] or [[progeria]] was first discovered by DeBusk. | *[[Hutchinson-Gilford progeria syndrome]] or [[progeria]] was first discovered by DeBusk. | ||
*The name to the [[disease]] as [[progeria]] was given by Hastings Gilford. | *The name to the [[disease]] as [[progeria]] was given by Hastings Gilford. | ||
*Jonathan Hutchinson previously | *Jonathan Hutchinson previously mention the disease [[progeria]] disorder and written about [[progeria]]. | ||
*Paterson reported 2 cases of [[progeria]] in 2 brothers | *Paterson reported 2 cases of [[progeria]] in 2 brothers whose parents had a [[consanguineous]] marriage. | ||
*In 1986, Ogihara et al reported a case in | *In 1986, Ogihara et al reported a case in Japan who might have [[progeria]] and survived till 45 years which is unusually long life span for the disease. | ||
*In 1987, Dyck et al reported a patient who had [[progeria]] and underwent [[coronary artery bypass surgery]] and [[percutaneous]] [[Transluminal percutaneous coronary angioplasty|transluminal]] [[angioplasty]]. | *In 1987, Dyck et al reported a patient who had [[progeria]] and underwent [[coronary artery bypass surgery]] and [[percutaneous]] [[Transluminal percutaneous coronary angioplasty|transluminal]] [[angioplasty]]. | ||
*In 1987, De Martinville et al reported 3 cases of [[neonatal]] [[Hutchinson-Gilford progeria syndrome]] in | *In 1987, De Martinville et al reported 3 cases of [[neonatal]] [[Hutchinson-Gilford progeria syndrome]] in France. | ||
*In 1990, Parkash et al noticed mandibuloacral [[dysplasia]] in a patient who is suffering with [[progeria]]. | *In 1990, Parkash et al noticed mandibuloacral [[dysplasia]] in a patient who is suffering with [[progeria]]. | ||
*In 1990, Fatunde et al reported [[progeria]] in 3 out of 6 siblings in a family. | *In 1990, Fatunde et al reported [[progeria]] in 3 out of 6 siblings in a family. | ||
*In 2002, De Paula Rodrigues et al described the involvement of [[Bone (disambiguation)|bones]] and [[Joint|joints]] in [[progeria]] patients. | *In 2002, De Paula Rodrigues et al described the involvement of [[Bone (disambiguation)|bones]] and [[Joint|joints]] in [[progeria]] patients. | ||
*In 2006, Hennekam described the [[Phenotype|phenotypes]] of [[Hutchinson-Gilford progeria syndrome]]. | *In 2006, Hennekam described the [[Phenotype|phenotypes]] of [[Hutchinson-Gilford progeria syndrome]]. | ||
===Famous Cases=== | ===Famous Cases=== | ||
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# Megan: She is currently enrolled in the Lonafarnib Trial Extension/Expansion. | # Megan: She is currently enrolled in the Lonafarnib Trial Extension/Expansion. | ||
# Sammy: Sammy is 23 years old and is from Italy, In 2014 Sammy was featured in an Italian National Geographic Series, ''Il Viaggio Di Sammy''. | # Sammy: Sammy is 23 years old and is from Italy, In 2014 Sammy was featured in an Italian National Geographic Series, ''Il Viaggio Di Sammy''. | ||
# Adalia: She’s from Texas, this 12 year-old is widely known for her | # Adalia: She’s from Texas, this 12-year-old is widely known for her funny videos and special relationship with her mom, Natalia – her 14 million Facebook followers are proof of that. | ||
# Brennan: Ten year old boy from New York. In July 2014,Brennen had his first Progeria Clinical Trial visit in Boston. | # Brennan: Ten-year-old boy from New York. In July 2014, Brennen had his first Progeria Clinical Trial visit in Boston. | ||
# Zoey: In July 2013 Zoey began taking lonafarnib as part of the Trial Expansion. | # Zoey: In July 2013 Zoey began taking lonafarnib as part of the Trial Expansion. | ||
# Beandri: Beandri is 13 years old | # Beandri: Beandri is 13 years old and from South Africa. | ||
# Enzo: Enzo is | # Enzo: Enzo is a seven-year-old boy from Australia. | ||
# Cameron: Cameron is from Pittsburgh, Pennsylvania. | # Cameron: Cameron is from Pittsburgh, Pennsylvania. | ||
*[[File:Life According to Sam.jpg|alt=Life According to Sam|thumb|Life According to Sam a documentary on progeria . Pic courtesy By Sean Fine, Andrea Nix Fine, <nowiki>https://en.wikipedia.org/w/index.php?curid=46239551</nowiki>]]In 2008, Merideth et al studied 15 patients who are suffering with [[Hutchinson-Gilford progeria syndrome|Hutchinson-Gilford progeria syndrom]]<nowiki/>e very comprehensively about the features of the [[disease]] and well documented. | |||
==References== | ==References== |
Revision as of 16:40, 2 July 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
Discovery
- Hutchinson-Gilford progeria syndrome or progeria was first discovered by DeBusk.
- The name to the disease as progeria was given by Hastings Gilford.
- Jonathan Hutchinson previously mention the disease progeria disorder and written about progeria.
- Paterson reported 2 cases of progeria in 2 brothers whose parents had a consanguineous marriage.
- In 1986, Ogihara et al reported a case in Japan who might have progeria and survived till 45 years which is unusually long life span for the disease.
- In 1987, Dyck et al reported a patient who had progeria and underwent coronary artery bypass surgery and percutaneous transluminal angioplasty.
- In 1987, De Martinville et al reported 3 cases of neonatal Hutchinson-Gilford progeria syndrome in France.
- In 1990, Parkash et al noticed mandibuloacral dysplasia in a patient who is suffering with progeria.
- In 1990, Fatunde et al reported progeria in 3 out of 6 siblings in a family.
- In 2002, De Paula Rodrigues et al described the involvement of bones and joints in progeria patients.
- In 2006, Hennekam described the phenotypes of Hutchinson-Gilford progeria syndrome.
Famous Cases
The following are a few famous cases of progeria:
- Sam(Life According to Sam): Sam passed away on January 10, 2014. He was 17 years old.
- Meghan Waldron: She is a senior in high school and lives with her family in Massachusetts.
- Megan: She is currently enrolled in the Lonafarnib Trial Extension/Expansion.
- Sammy: Sammy is 23 years old and is from Italy, In 2014 Sammy was featured in an Italian National Geographic Series, Il Viaggio Di Sammy.
- Adalia: She’s from Texas, this 12-year-old is widely known for her funny videos and special relationship with her mom, Natalia – her 14 million Facebook followers are proof of that.
- Brennan: Ten-year-old boy from New York. In July 2014, Brennen had his first Progeria Clinical Trial visit in Boston.
- Zoey: In July 2013 Zoey began taking lonafarnib as part of the Trial Expansion.
- Beandri: Beandri is 13 years old and from South Africa.
- Enzo: Enzo is a seven-year-old boy from Australia.
- Cameron: Cameron is from Pittsburgh, Pennsylvania.
- In 2008, Merideth et al studied 15 patients who are suffering with Hutchinson-Gilford progeria syndrome very comprehensively about the features of the disease and well documented.