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Lavaut Sanchez K.,Institute Hematologia e Inmunologia
Revista Cubana de Hematologia, Inmunologia y Hemoterapia | Year: 2014

Hemophilia is ahereditary bleeding disorderX-linkedthat arises due to mutationsin the genes of factor VIII (hemophilia A) and factor IX (hemophilia B), which causes a decrease or functional deficiency of these proteins in plasma. Their frequencies are 1 in 5 000 males and 1 in 30 000 live births, respectively. It affects males almost exclusively, and female carriers have a 50 % risk of transmitting the disease to their children. So, it is importantin families with history of hemophilia that carriers are identified through genetic counseling, which provides information about the disease, making pedigree, calculation of therisk of recurrence, molecular diagnosis and possibility of prenatal diagnosis inpregnant carriers. It is imperative that genetic counseling constitutes an educational and informative process, never as an imposition. Source

Abraham C.M.,Institute Hematologia e Inmunologia
Revista Cubana de Hematologia, Inmunologia y Hemoterapia | Year: 2015

Histocompatibility is the area of Immunology for the study or typing of antigens expressed in the surface of leukocytes, of high polymorfirsm, genetically determined by different allelic variants, implied in organs and tissues reject due to its high level of immunogenicity. The development of Immunology in Cuba since the 1970´s has allowed the gradual introduction of technologies that made it possible to type these antigens and the development of hematopoietic and kidney transplants in our country. The use of molecular biology in this area has made it possible the most precise identification of existing and new antigenic variants previously not known, which have contributed to enlarge new possibilities for hematopoietic transplant to non related donors and with blood cord cells, which increased the options for cure in different diseases. © 2015, Editorial Ciencias Medicas. All rights reserved. Source

Castillo-Gonzalez D.,Institute Hematologia e Inmunologia
Revista Cubana de Hematologia, Inmunologia y Hemoterapia | Year: 2012

The sporadic hemophilia prevalence was estimated more than 40 years ago and it was shown that approximately a third of the cases are novo. Most of the mutations that occur in hemophilia are produced during the male spermatogenesis; in other cases, they occur in early stages of the embrión development or in the mother a germinal mutation. The X-cromosoma- inactivation process is at random. Extended studies have shown that male meiosis are more frequent than female ones, with a global proportion of 3,5/1, specially introns inversions 22 and 1. There were revised molecular and biochemical aspects of factors VIII and IX. We ruled out the importance of B domain in factor VIII, which contributes to multiple essential functions, as the quality control of synthesis, secretion, union with platelet phospholipids, inactivation and complete clearance of the molecule. Source

Coagulogram comprises a set of tests, which explore the participation of all components of hemostasia: vascular endothelium, platelet activity, plasma and fibrinolytic factors. Often, the technical staff finds complex to do these tests, so deepening knowledge, understanding, and interpreting the results of each of these tests should result in strengthening and training of health professionals. This paper describes the main conventional coagulation tests, the beginning and the reference values of each of them, and the possible diseases according to the alteration of the hemostatic system corresponding to the alteration of coagulation, with the aim of providing medical background information for the proper performance and proper interpretation of results. Source

Cord Blood Cell (CBC) transplantation is successfully applied for the treatment of various diseases due to the great potential of its advantageous characteristics regarding plasticity and compatibility. Nevertheless, in order to achieve greater levels of applicability, CBC ex vivo expansion cultures are required in certain occasions. As cellular expanded products for transplantation, pre-clinical safety is a great matter of concern before its use. Transplantation and Cellular Therapy Programs should fulfill quality requirements, both national and international, and a certain number of organizations have been dedicated to establish accreditation processes based on standards. Since the draft of the 6th Edition of the International Standards, jointly proposed by The Foundation for the Accreditation of Cellular Therapy and the Joint Accreditation Committee of the International Society for Cellular Therapy and the European Society for the Blood and Bone Transplant (FACT-JACIE), as well as the draft for review and comment of The Common Standards for Cellular Therapies were published, both quality management documents are commented, due to the fact that they establish minimal working guidelines for Programs, Facilities, and Persons working on Cellular Therapies and Transplantation or giving support services for such procedures. Some evidences of the usefulness of this accreditation processes and their importance for achieving better working results in transplantation and cellular therapy are shown. © 2015, Editorial Ciencias Medicas. All rights reserved. Source

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