Hutchinson-Gilford Progeria Syndrome - Revision history

Nnjm2 at 08:54, 18 November 2017

2017-11-18T08:54:08Z

← Older revision		Revision as of 08:54, 18 November 2017
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	#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>		#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>

	== Treament ==		=== Treament ===

	Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]		Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]

	Pravastatin helps to prevent cardiovascular-related diseases while zoledronate helps to prevent skeletal fractures in patients<ref>Clinical Trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>.		Pravastatin helps to prevent cardiovascular-related diseases while zoledronate helps to prevent skeletal fractures in patients<ref>Clinical Trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>.

Nnjm2: Cleaned up the text. Reformatted the page.

2017-11-18T08:53:40Z

Cleaned up the text. Reformatted the page.

← Older revision		Revision as of 08:53, 18 November 2017
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	== Brief Background ==		=== Brief Background ===

	This is a rare disorder that is characterised by premature ~~aging ~~<ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical ~~GeneticsfckLRVolume~~ 66, Issue 5, pages 375–381, November 2004</ref>. The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref>~~ ~~and it occurs in 1 in 8 million people.		This is a rare disorder that is characterised by premature ageing <ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical Genetics Volume 66, Issue 5, pages 375–381, November 2004</ref>. The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people.

	== Cause ==		=== Cause ===

	It is due to a completely random point mutation at the 1824th position of the [[Lamin A\|Lamin A]] protein leading to the substitution of thymine with [[Cytosine\|cytosine]]~~ ~~<ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe. ~~ ~~Although ~~their~~ is no current evidence that the syndrome can be inherited ~~their~~ is a family in India that all the children have the syndrome.		It is due to a completely random point mutation at the 1824th position of the [[Lamin A\|Lamin A]] protein leading to the substitution of thymine with [[Cytosine\|cytosine]] <ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe. Although there is no current evidence that the syndrome can be inherited there is a family in India that all the children have the syndrome.

	== Symptoms ==		=== Symptoms ===

	#[[Alopecia\|Alopecia]]		#[[Alopecia\|Alopecia]]
Line 20:		Line 20:
	#Progressive cardiovascular diseases		#Progressive cardiovascular diseases
	#Progressive [[Atherosclerosis\|atherosclerosis]]		#Progressive [[Atherosclerosis\|atherosclerosis]]
	#Death~~ ~~<ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>~~ ~~		#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>

	== Treament ==		== Treament ==

	Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]~~<br>~~		Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]

	~~Pravastin~~ helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients<ref>Clinical ~~trials~~. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>.		Pravastatin helps to prevent cardiovascular-related diseases while zoledronate helps to prevent skeletal fractures in patients<ref>Clinical Trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>.

	== Reference list ==		=== Reference list ===

	<references /~~><br~~>		<references />

170083115: Cleaned up punctuation in reference (before full stop).

2017-11-17T11:55:17Z

Cleaned up punctuation in reference (before full stop).

← Older revision		Revision as of 11:55, 17 November 2017
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	== Treament ==		== Treament ==

	Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]<br>		Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]<br>

	Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>		Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>.

	== Reference list ==		== Reference list ==

	<references /><br>		<references /><br>

109292678 at 20:32, 1 December 2011

2011-12-01T20:32:02Z

← Older revision		Revision as of 20:32, 1 December 2011
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	== Cause ==		== Cause ==

	It is due to a completely random point mutation at the 1824th position of the [[Lamin A\|Lamin A]] protein leading to the substitution of thymine with [[~~cytosine~~\|cytosine]] <ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.		It is due to a completely random point mutation at the 1824th position of the [[Lamin A\|Lamin A]] protein leading to the substitution of thymine with [[Cytosine\|cytosine]] <ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.

	== Symptoms ==		== Symptoms ==

	#[[Alopecia\|Alopecia]]		#[[Alopecia\|Alopecia]]
	#Delayed tooth formation		#Delayed tooth formation
	#[[Scleroderma\|Scleroderma]]		#[[Scleroderma\|Scleroderma]]
	#[[Macrocephaly\|Macrocephaly]]		#[[Macrocephaly\|Macrocephaly]]
	#Prominent scalp veins		#Prominent scalp veins
	#Bulging eyes		#Bulging eyes
Line 18:		Line 18:
	#Growth failure		#Growth failure
	#Loss of muscles and body fat		#Loss of muscles and body fat
	#Progressive cardiovascular diseases		#Progressive cardiovascular diseases
	#Progressive [[~~atherosclerosis~~\|atherosclerosis]]		#Progressive [[Atherosclerosis\|atherosclerosis]]
	#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>		#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>

	== Treament ==		== Treament ==

	Drugs - [[~~pravastatin~~\|pravastatin]] and [[~~zoledronate~~\|zoledronate]]<br>		Drugs - [[Pravastatin\|pravastatin]] and [[Zoledronate\|zoledronate]]<br>

	Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>		Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>

Nnjm2 at 10:22, 12 November 2011

2011-11-12T10:22:50Z

← Older revision		Revision as of 10:22, 12 November 2011
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	== ~~ ~~Brief Background ==		== Brief Background ==

	~~       ~~ This is a rare disorder that is characterised by premature aging.<ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical GeneticsfckLRVolume 66, Issue 5, pages 375–381, November 2004</ref>~~ ~~. The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people.		This is a rare disorder that is characterised by premature aging <ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical GeneticsfckLRVolume 66, Issue 5, pages 375–381, November 2004</ref>. The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people.

	== ~~ ~~Cause ==		== Cause ==

	It is due to a completely random point mutation at the 1824th position of the Lamin A protein leading to the substitution of thymine with cytosine<ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.		It is due to a completely random point mutation at the 1824th position of the [[Lamin A\|Lamin A]] protein leading to the substitution of thymine with [[cytosine\|cytosine]] <ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.

	== Symptoms ==		== Symptoms ==

	#Alopecia		#[[Alopecia\|Alopecia]]
	#Delayed tooth formation.		#Delayed tooth formation
	#Scleroderma		#[[Scleroderma\|Scleroderma]]
	#Macrocephaly		#[[Macrocephaly\|Macrocephaly]]
	#Prominent scalp veins		#Prominent scalp veins
	#Bulging eyes		#Bulging eyes
Line 18:		Line 18:
	#Growth failure		#Growth failure
	#Loss of muscles and body fat		#Loss of muscles and body fat
	#Progressive cardiovascular diseases.		#Progressive cardiovascular diseases
	#Progressive atherosclerosis		#Progressive [[atherosclerosis\|atherosclerosis]]
	#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>		#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>

	== Treament ==		== Treament ==

	Drugs - pravastatin and zoledronate<br>Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>		Drugs - [[pravastatin\|pravastatin]] and [[zoledronate\|zoledronate]]<br>

	== Reference list ==		Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>

			== Reference list ==

	<references /><br>		<references /><br>

109292759: about HGPS

2011-11-12T00:16:00Z

about HGPS

← Older revision		Revision as of 00:16, 12 November 2011
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	Drugs - pravastatin and zoledronate<br>Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>		Drugs - pravastatin and zoledronate<br>Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>

	== ~~<references />~~ ==		== Reference list ==

	<br>		<references /><br>

109292759 at 00:14, 12 November 2011

2011-11-12T00:14:38Z

← Older revision		Revision as of 00:14, 12 November 2011
Line 1:		Line 1:
	==  Brief Background ==		==  Brief Background ==

	This is a rare disorder that is characterised by premature aging.<ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical ~~Genetics~~		This is a rare disorder that is characterised by premature aging.<ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical GeneticsfckLRVolume 66, Issue 5, pages 375–381, November 2004</ref> . The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people.
	~~Volume~~ 66, Issue 5, pages 375–381, November 2004</ref> . The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people.

	==  Cause ==		==  Cause ==

	It is due to a completely random point mutation at the 1824th position of the Lamin A protein leading to the substitution of thymine with cytosine<ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.		It is due to a completely random point mutation at the 1824th position of the Lamin A protein leading to the substitution of thymine with cytosine<ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.

	== Symptoms ==		== Symptoms ==

	#Alopecia		#Alopecia
	#Delayed tooth formation.		#Delayed tooth formation.
	#Scleroderma		#Scleroderma
	#Macrocephaly		#Macrocephaly
	#Prominent scalp veins		#Prominent scalp veins
	#Bulging eyes		#Bulging eyes
	#High pitched voice		#High pitched voice
	#Growth failure		#Growth failure
	#Loss of muscles and body fat		#Loss of muscles and body fat
	#Progressive cardiovascular diseases.		#Progressive cardiovascular diseases.
	#Progressive atherosclerosis		#Progressive atherosclerosis
	#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>		#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref>

	== Treament ==		== Treament ==

	Drugs - pravastatin and zoledronate<br>Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>		Drugs - pravastatin and zoledronate<br>Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>

			== <references /> ==

	<br>		<br>

109292759: To give a brief background about HGPS

2011-11-12T00:12:57Z

To give a brief background about HGPS

New page

==  Brief Background ==

        This is a rare disorder that is characterised by premature aging.<ref>Pollex,R.L.,Hegele,R,A."Hutchinson–Gilford progeria syndrome"Clinical Genetics
Volume 66, Issue 5, pages 375–381, November 2004</ref> . The syndrome was discovered by Jonathan Hutchinson and Hastings Gilford <ref>Progeria Research Foundation (2011). “About Progeria” (http://www.progeriaresearch.org/about_progeria.html), [last viewed: 11th November, 2011]</ref> and it occurs in 1 in 8 million people.

==  Cause ==

It is due to a completely random point mutation at the 1824th position of the Lamin A protein leading to the substitution of thymine with cytosine<ref>Brown, W.T.,Kliegman, R.M., Behrman, R.E., Jenson, H.B., Stanton, B.F., eds. (2007) “Progeria”. Nelson Textbook of Pediatrics 18th Ed. Philadelphia, Pa: Saunders Elsevier; chap 90</ref>. It is said to be completely random as there is no specific tribe or race associated with it. It has been discovered in patients across the globe.  Although their is no current evidence that the syndrome can be inherited their is a family in India that all the children have the syndrome.

== Symptoms ==

#Alopecia
#Delayed tooth formation.
#Scleroderma
#Macrocephaly
#Prominent scalp veins
#Bulging eyes
#High pitched voice
#Growth failure
#Loss of muscles and body fat
#Progressive cardiovascular diseases.
#Progressive atherosclerosis
#Death <ref>Gordon, L.B., Brown T.W., Collins, F.S. (2003). “Hutchinson-Gilford Progeria Syndrome”. Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1121/), [last viewed: 05th April, 2011]</ref> 

== Treament ==

Drugs - pravastatin and zoledronate<br>Pravastin helps to prevent cardiovascular related diseases while zoledronate helps to prevent skeletal fractures in patients.<ref>Clinical trials. (2010) http://clinicaltrials.gov/ct2/show/NCT00731016</ref>

<br>