ورود
مقالات فارسیISIکنفرانسهاژورنالها

Rare bleeding disorders: a narrative review of epidemiology, molecular and clinical presentations, diagnosis and treatment

محل انتشار: مجله پزشکی کودکان، دوره: 2، شماره: 2
سال انتشار: 1393
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 65

فایل این مقاله در 16 صفحه با فرمت PDF قابل دریافت می باشد

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این مقاله:
https://civilica.com/doc/1837540

شناسه ملی سند علمی:

JR_JPRE-2-2_004

تاریخ نمایه سازی: 9 آذر 1402

چکیده مقاله:

Rare bleeding disorders (RBDs) are a heterogeneous group of disorders including different types of coagulation factor deficiencies. The disorders are inherited in an autosomal recessive manner with different frequencies varying from ۱:۵۰۰۰۰۰ to ۱:۲۰۰۰۰۰۰. Patients affected with RBDs are presented with a wide spectrum of clinical manifestations ranging from mild to life threatening bleeding diathesis. These disorders are usually present in regions with high rate of parental consanguinity. Despite the rare incidence of RBDs, it is necessary for physicians to be aware of these disorders. Here we aim to have a comprehensive review on general features and also the recent advances in understanding of RBDs. MEDLINE and Web of Science databases searched for English sources from ۱۹۹۰ to ۲۰۱۴, using the following keywords: rare bleeding disorder, rare inherited disorder, factor deficiency, structure, function, epidemiology, manifestations, laboratory analysis, diagnosis, mutation, treatment, management and also all the factor deficiencies which are considered as RBD. Knowledge towards RBDs is increasing, however, most of published data are limited to small group of populations or case reports. Therefore, there are still several questions on these rare disorders which need to be clarified through large prospective studies.

کلیدواژه ها:

Rare Diseases ، Bleeding disorder ، Factor ، Deficiency ، Epidemiology ، Diagnosis ، Treatment

نویسندگان

Majid Naderi

Departement Of Pediatrics Hematology & Oncology, Ali Ebn-e Abitaleb Hospital Research Center For Children And Adolescents Health [RCCAH], Zahedan University of Medical Sciences, Zahedan, IR Iran

Shadi Tabibian

Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, IR Iran

Maryam Sadat Hosseini

Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, IR Iran

Shaban Alizadeh

Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, IR Iran

Soudabeh Hosseini

Department of Hematology, Allied Medical School, Iran University of Medical Sciences, Tehran, IR Iran

Hossein Karami

Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran

Hassan Mahmoodi Nesheli

Non- Communicable Pediatric Disease Research Center, Babol University of Medical Sciences, Babol, Iran

Akbar Dorgalaleh

Department of Hematology, Allied Medical School, Tehran University of Medical Sciences, Tehran, IR Iran

مراجع و منابع این مقاله:

لیست زیر مراجع و منابع استفاده شده در این مقاله را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود مقاله لینک شده اند :
  • Peyvandi F, Bolton‐Maggs P H B, Batorova A, De Moerloose ...
  • Hsieh L, Nugent D. Rare factor deficiencies. Current opinion in ...
  • Bolton‐Maggs P H B. The rare inherited coagulation disorders. Pediatric ...
  • Mannucci P M, Duga S, Peyvandi F. Recessively inherited coagulation ...
  • Hoffbrand A V. Catovsky D, Tuddenham E G. (Eds.). Postgraduate ...
  • Peyvandi F, Di Michele D, Bolton‐Maggs P H B, Lee ...
  • Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V. Treatment of ...
  • Levy J H, Szlam F, Tanaka K A, Sniecienski R ...
  • Acharya S, Dimichele D. Rare inherited disorders of fibrinogen. Haemophilia. ...
  • Al‐Mondhiry H, Ehmann W C. Congenital afibrinogenemia. Am J Hematol. ...
  • Naderi M, Eshghi P, Dorgalaleh A, Tabibian S. Clinical manifestations ...
  • Naderi M, Eshghi P, Saneei Moghaddam E, Alizadeh S, Dorgalaleh ...
  • Bolton‐Maggs P H B, Perry D, Chalmers E, Parapia L, ...
  • Ma A D. Prothrombin Deficiency. Ma, A.D., Roberts, H.R. and ...
  • Girolami A, Scarano L, Saggiorato G, Girolami B, Bertomoro A, ...
  • Mathias M, Pollard D, Riddell A. Prophylaxis in severe prothrombin ...
  • Huang J N, Koerper M A. Factor V deficiency: a ...
  • Lippi G, Favaloro E J, Montagnana M, Manzato F, Guidi ...
  • Lak M, Sharifian R, Peyvandi F, Mannucci F. Symptoms of ...
  • Mansouritorghabeh H, Manavifar L, Mobalegh A, Shirdel A. Haemorrhagic manifestations ...
  • Zheng C, Zhang B. Combined Deficiency of Coagulation Factors V ...
  • Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Haemophilia. ...
  • Karimi M, Cairo A, Safarpour M M, Haghpanah S, Ekramzadeh ...
  • Zhang B. Recent developments in the understanding of the combined ...
  • Buckner T, Ma AD. Combined Factor V and Factor VIII ...
  • Ostergaard H, Olsen O H, Larsen K S, Stennicke H. ...
  • Vadivel K, Bajaj SP. Structural biology of factor VIIa/tissue factor ...
  • Mariani G, Bernardi F. Factor VII deficiency. Seminars in thrombosis ...
  • Soria J M, Almasy L, Souto J C, Sabater-Lleal M, ...
  • Venkateswarlu D, Perera L, Darden T, Pedersen L G. Structure ...
  • Menegatti M, Peyvandi F. Factor X deficiency. Semin Thromb Hemost ...
  • Uprichard J, Perry D J. Factor X deficiency. Blood Rev ...
  • Brown D, Kouides PA. Diagnosis and treatment of inherited factor ...
  • O’Connell N M. Factor XI deficiency. Semin Hematol ۲۰۰۴; ۴۱(Suppl ...
  • Gomez K, Bolton‐Maggs P. Factor XI deficiency. Haemophilia. ۲۰۰۸;۱۴(۶):۱۱۸۳-۹ ...
  • Seligsohn U, Bolton‐Maggs P H B. Factor XI deficiency. Textbook ...
  • Duga S, Salomon O. Factor XI deficiency. Seminars in thrombosis ...
  • James P, Salomon O, Mikovic D, Peyvandi F. Rare bleeding ...
  • Naderi M, Imani M, Eshghi P, Dorgalaleh A,Tabibian S, Alizadeh ...
  • Eshghi P, Cohan N, Naderi M, Karimi M. Factor XIII ...
  • Naderi M, Dorgalaleh A, Alizadeh S, Kazemi A, Tabibian S, ...
  • Naderi M, Dorgalaleh A, Tabibian S, Alizadeh S, Eshghi P, ...
  • Naderi M, Dorgalaleh A, Alizadeh S, Kashani K Z, Tabibian ...
  • Naderi M, Eshghi P, Karimi M, Alizadeh S, Dorgalaleh A. ...
    • نمایش کامل مراجع