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Kaushik Saha
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describe para SIIC los aspectos relevantes de su artículo

HEREDITARY HEMORRHAGIC TELANGIECTASIA

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited disorder of the vascular system. It is usually asymptomatic but when symptomatic most common presentation is epistaxis. It can involve any organs of the body like lungs, skin, liver brain, GI mucosa etc. We are reporting a case of HHT presented to us with dyspnea and severe anemia. He had arteriovenous malformations of different visceral organs and telangiectasia of skin along with presence of similar history in first-degree relatives.

The article was published by
El artículo fue publicado por
Asian Journal of Transfusion Science
Volume / Volumen: 7
Number / Número: 1
First and last pages / Páginas inicial-final: 75-78
Year / Año: 2013
Month / Mes: january


This journal, which is covered by SIIC Data Bases,
is part of the bibliographic collections of the Biblioteca Biomédica (BB) SIIC.
Esta revista, clasificada por SIIC Data Bases,
integra el acervo bibliográfico de la Biblioteca Biomédica (BB) SIIC.
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Principal institution where the research took place
Institución principal de la investigación
Nilratan Sircar Medical College and Hospital, Kolkata, West Bengal, India, Kolkata, West Bengal, India


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Author's Report

Crónica del Autor


Bibliographic references
Referencias bibliográficas

1. Juares AJ, Dell'Aringa AR, Nardi JC, Kobari K, Moron G, Rodrigues VL, et al. Rendu-Osler-Weber Syndrome: Case report and literature review. Braz J Otorhinolaryngol 74:452-7, 2008.
2. Halefoglu AM. Rendu-Osler-Weber syndrome presenting with pulmonary arteriovenous fistula. Australas Radiol 49:242-5, 2005.
3. Shovlin CL, Letarte M. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: Issues in clinical management and review of pathogenic mechanisms. Thorax 54:714-29, 1999.
4. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: A clinical and scientific review. Eur J Hum Genet 17:860-71, 2009.
5. Elmali M, Akan H, Findik S, Kale M, Celenk C. Hereditary hemorrhagic telangiectasia associated with pulmonary arteriovenous malformations presenting as hemothorax. J Thorac Imaging 23:295-7, 2008.
6. Sabba C. A rare and misdiagnosed bleeding disorder: Hereditary hemorrhagic telangiectasia. J Thromb Haemost 3:2201-10, 2005.
7. Sadick H, Sadick M, Götte K, Naim R, Riedel F, Bran G, et al. Hereditary hemorrhagic telangiectasia: An update on clinical manifestations and diagnostic measures. Wien Klin Wochenschr 118:72-80, 2006.
8. Shovlin CL, Guttmacher AE, Buscarini E. Diag-nostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66-7, 2000.
9. Sabbà C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, et al. Hereditary hemorrhagic telangiectasia: Clinical features in ENG and ALK1 mutation carriers. J Thromb Haemost 5:1149-57, 2007.
10. Ingrosso M, Sabba C, Pisani A. Evidence of small-bowel involvement in hereditary hemorrhagic telangiectasia: A capsule-endoscopic study. Endoscopy 36:1074-9, 2004.
11. Begbie ME, Wallace GM, Shovlin CL. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): A view from the 21st century. Postgrad Med J 79:18-24, 2003.
12. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. J Med Genet 48:73-87, 2011.

Other articles written by the author Kaushik Saha
Otros artículos de Kaushik Saha

{ otros articulos }




SIIC System of Assisted Editing (SSEA)
/ Sistema SIIC de Edición Asistida (SSEA)

Kaushik Saha was invited by SIIC on
Kaushik Saha fue invitado por SIIC el
2014, february 12
  The author's report was accepted on
La crónica del autor fue aprobada el
2017, april 7
The author's report was accepted on
La crónica del autor fue aprobada el
2017, april 7
Published in siicsalud
Publicado en siicsalud
2017, july 6





The article is strictly related to the following sections of siicsalud
El artículo se relaciona estrictamente con las siguientes secciones de siicsalud

 
Intensive Care
/ Cuidados Intensivos
 
Internal Medicine
/ Medicina Interna
 

and secondarily related to the following sections

y secundariamente con las siguientes secciones

Genetics
Genética Humana

Haematology
Hematología

Information about the full text
Acerca del trabajo completo


HEREDITARY HEMORRHAGIC TELANGIECTASIA


Author / Autor
Kaushik Saha1

1 Dr., Burdwan Medical College And Hospital, Burdwan, West Bengal, India, Burdwan, India, Assistant Professor


Access to the original source
Asian Journal of Transfusion Science

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http://www.siicsalud.com/dato/croin.php/140517

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