Progeria historical perspective: Difference between revisions
Jump to navigation
Jump to search
| (17 intermediate revisions by the same user not shown) | |||
| Line 2: | Line 2: | ||
{{Progeria}} | {{Progeria}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
[[Hutchinson-Gilford progeria syndrome]] or [[progeria]] was first discovered by DeBusk and the name was given by Hastings Gilford. Dyck et al reported a patient who had [[progeria]] and underwent [[coronary artery bypass surgery]] and [[percutaneous]] [[Transluminal percutaneous coronary angioplasty|transluminal]] [[angioplasty|angioplasty.]]De Paula Rodrigues et al described the involvement of [[Bone (disambiguation)|bones]] and [[Joint|joints]] in [[progeria]] patients. The word [[progeria]] is of greek origin which means [[Premature|prematurely]] old. | |||
==Historical Perspective== | ==Historical Perspective== | ||
===Discovery=== | ===Discovery=== | ||
* | *In 1886, Hutchinson is the to first to described the syndrome progeria.<ref name="pmid24288630">{{cite journal| author=Panigrahi RG, Panigrahi A, Vijayakumar P, Choudhury P, Bhuyan SK, Bhuyan R et al.| title=Hutchinson-gilford progeria syndrome: a rare genetic disorder. | journal=Case Rep Dent | year= 2013 | volume= 2013 | issue= | pages= 631378 | pmid=24288630 | doi=10.1155/2013/631378 | pmc=3830809 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24288630 }}</ref><ref name="pmid20150858">{{cite journal| author=Russo-Menna I, Arancibias C| title=The Hutchinson-Gilford Progeria Syndrome: a case report. | journal=Minerva Anestesiol | year= 2010 | volume= 76 | issue= 2 | pages= 151-4 | pmid=20150858 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20150858 }}</ref><ref name="pmid16555603">{{cite journal| author=McKusick VA| title=The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics. | journal=Trans Am Clin Climatol Assoc | year= 2005 | volume= 116 | issue= | pages= 15-38 | pmid=16555603 | doi= | pmc=1473126 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16555603 }}</ref><ref name="pmid22011502">{{cite journal| author=Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P| title=Ocular manifestations in the Hutchinson-Gilford progeria syndrome. | journal=Indian J Ophthalmol | year= 2011 | volume= 59 | issue= 6 | pages= 509-12 | pmid=22011502 | doi=10.4103/0301-4738.86327 | pmc=3214428 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22011502 }}</ref><ref name="pmid2649013">{{cite journal| author=Badame AJ| title=Progeria. | journal=Arch Dermatol | year= 1989 | volume= 125 | issue= 4 | pages= 540-4 | pmid=2649013 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2649013 }}</ref> | ||
* | *In 1972, progeria was renamed to “Hutchinson-Gilford progeria syndrome” by DeBusk. | ||
*Jonathan Hutchinson previously | *In 1904, the name to the [[disease]] as [[progeria]] was given by Hastings Gilford. | ||
*Paterson reported 2 cases of [[progeria]] in 2 brothers | *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 | *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. | ||
| Line 23: | Line 26: | ||
*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. | *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. | ||
===Famous Cases=== | === Famous Cases === | ||
The following are a few famous cases of [[progeria]]: | The following are a few famous cases of [[progeria]]: | ||
# Sam | # Sam: Sam passed away on January 10, 2014. He was 17 years old. | ||
#*"Life According to Sam" is a famous documentary about Sam condition | |||
# Meghan Waldron: She is a senior in high school and lives with her family in Massachusetts. | # 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. | # 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>|center|300x300px]] | |||
==References== | ==References== | ||
Latest revision as of 20:17, 16 July 2019
|
Progeria Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Progeria historical perspective On the Web |
|
American Roentgen Ray Society Images of Progeria historical perspective |
|
Risk calculators and risk factors for Progeria historical perspective |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Hutchinson-Gilford progeria syndrome or progeria was first discovered by DeBusk and the name was given by Hastings Gilford. Dyck et al reported a patient who had progeria and underwent coronary artery bypass surgery and percutaneous transluminal angioplasty.De Paula Rodrigues et al described the involvement of bones and joints in progeria patients. The word progeria is of greek origin which means prematurely old.
Historical Perspective
Discovery
- In 1886, Hutchinson is the to first to described the syndrome progeria.[1][2][3][4][5]
- In 1972, progeria was renamed to “Hutchinson-Gilford progeria syndrome” by DeBusk.
- In 1904, 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.
- 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.
Famous Cases
The following are a few famous cases of progeria:
- Sam: Sam passed away on January 10, 2014. He was 17 years old.
- "Life According to Sam" is a famous documentary about Sam condition
- 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.
References
- ↑ Panigrahi RG, Panigrahi A, Vijayakumar P, Choudhury P, Bhuyan SK, Bhuyan R; et al. (2013). "Hutchinson-gilford progeria syndrome: a rare genetic disorder". Case Rep Dent. 2013: 631378. doi:10.1155/2013/631378. PMC 3830809. PMID 24288630.
- ↑ Russo-Menna I, Arancibias C (2010). "The Hutchinson-Gilford Progeria Syndrome: a case report". Minerva Anestesiol. 76 (2): 151–4. PMID 20150858.
- ↑ McKusick VA (2005). "The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics". Trans Am Clin Climatol Assoc. 116: 15–38. PMC 1473126. PMID 16555603.
- ↑ Chandravanshi SL, Rawat AK, Dwivedi PC, Choudhary P (2011). "Ocular manifestations in the Hutchinson-Gilford progeria syndrome". Indian J Ophthalmol. 59 (6): 509–12. doi:10.4103/0301-4738.86327. PMC 3214428. PMID 22011502.
- ↑ Badame AJ (1989). "Progeria". Arch Dermatol. 125 (4): 540–4. PMID 2649013.