Results 31 to 40 of about 6,358 (202)

EMICIZUMABE COMO TRATAMENTO PREVENTIVO DE SANGRAMENTO EM PACIENTE COM HEMOFILIA A GRAVE: UM RELATO DE CASO CLÍNICO

Hematology, Transfusion and Cell Therapy, 2023
Introdução: A hemofilia é uma doença hereditária que impede a coagulação adequada do sangue. É causada pela diminuição da atividade do fator VIII (hemofilia A) ou do fator IX (hemofilia B).
EO Coelho, MDC Assunção, JS Cristino, JFM Melo, EO Coelho, FLR Bandeira   +5 more
doaj   +1 more source

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines

Human Mutation, Volume 41, Issue 12, Page 2058-2072, December 2020., 2020
Abstract In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia.
Nadine G. Andersson, Veerle Labarque, Anna Letelier, Maria Elisa Mancuso, Martina Bührlen, Kathelijn Fischer, Mutlu Kartal‐Kaess, Minna Koskenvuo, Torben Mikkelsen, Rolf Ljung, PedNet study group   +10 more
wiley   +1 more source

ESTUDO DA MORTALIDADE E IMPACTO DAS INFECÇÕES POR HIV, HCV E HBV EM PORTADORES DE HEMOFILIA EM BELO HORIZONTE, 1985-2021

Brazilian Journal of Infectious Diseases, 2023
Introdução/Objetivo: Pacientes com hemofilia representam população com histórico de maior prevalência e mortalidade por infecções de transmissão parenteral.
Ricardo Andrade Carmo, Victor Tanure Lino, Marina Lobato Martins, Lorenza Nogueira Campos Dezanet   +3 more
doaj   +1 more source

Determining meaningful health‐related quality‐of‐life improvement in persons with haemophilia A using the Haemophilia Quality of Life Questionnaire for Adults (Haem‐A‐QoL)

Haemophilia, Volume 26, Issue 6, Page 1019-1030, November 2020., 2020
Abstract Introduction The Haem‐A‐QoL is frequently utilized in haemophilia clinical trials and captures relevant aspects of disease impact. Thresholds for some domains ‘Physical Health’ (PH), ‘Sports & Leisure’ (S&L) and ‘Total Score’ (TS) have previously been identified to benchmark the amount of change that is meaningful to patients, but not been ...
Sylvia von Mackensen, Olivier Catalani, Elina Asikanius, Ido Paz‐Priel, Michaela Lehle, Peter Trask   +5 more
wiley   +1 more source

Molecular characterization of hemophilia B patients in Colombia

Molecular Genetics &Genomic Medicine, Volume 8, Issue 5, May 2020., 2020
This is the first molecular characterization of patients with Hemophilia B in Colombia. Using Sanger sequencing we found the patogenic variant in all patients. One large deletion of exon 3 and 4 hasn't been reported previously in international databases.
Yolima A. Parrado Jara, Luz K. Yunis Hazbun, Adriana Linares, Juan J. Yunis Londoño   +3 more
wiley   +1 more source

PERFIL CLÍNICO-EPIDEMIOLÓGICO DAS HEMOFILIAS A E B NO ESTADO DO MARANHÃO

REVISTA FOCO, 2023
A hemofilia A, caracterizada pela deficiência do fator de coagulação VIII, e a hemofilia do tipo B, deficiência no fator IX. A hemofilia A afeta cerca de 1 a cada 10.000 nascimentos masculinos. Até o ano de 2021, havia 11.141 pacientes diagnosticados com essa condição. Já a hemofilia B é aproximadamente quatro vezes menos frequente, com 2.196 pacientes
Amanda de Jesus Abreu Rocha, Suiani Carvalho Braz, Mércya Carolynne Santos Silva, Ana Sarah Nobre Bezerra Santos, Carlos Emanuel Araújo Soares, Vitória Ribeiro Pereira, Ademilton Costa Alves   +6 more
openaire   +1 more source

Long‐term analysis of the benefit of prophylaxis for adult patients with severe or moderate haemophilia A

Haemophilia, Volume 26, Issue 3, Page 467-477, May 2020., 2020
Abstract Introduction Prophylaxis with factor VIII (FVIII) concentrates in children with haemophilia A (HA) is current standard of care. The benefit of prophylactic treatment for adult HA patients is not commonly accepted. Aim To investigate the benefit of prophylaxis over on‐demand treatment in adult and elderly patients with severe or non‐severe HA ...
Wolfgang Miesbach, Sabine Kittler, Artur Bauhofer, Christoph Königs, Thomas Becker, László Nemes, Alexander Staus, Jörg Schüttrumpf   +7 more
wiley   +1 more source

LESÃO DE ANTOPOL-GOLDMAN EM HEMOFÍLICO B GRAVE: RELATO DE CASO

Hematology, Transfusion and Cell Therapy, 2023
Introdução: A Lesão de Antopol-Goldman (LAG) é uma condição benigna rara, caracterizada por hematoma ou hemorragia subepitelial da pelve renal, podendo envolver os cálices renais e o ureter proximal.
P Eickhoff, PJM João, MTC Rodrigues, BMB Bregagnollo, VJF Corrêa, AL Emrich, LET Souza, PC Jericó, C Piaia, VKB Franco   +9 more
doaj   +1 more source

Long‐term safety and efficacy of rIX‐FP prophylaxis with extended dosing intervals up to 21 days in adults/adolescents with hemophilia B

Journal of Thrombosis and Haemostasis, Volume 18, Issue 5, Page 1065-1074, May 2020., 2020
Abstract Background An international, multicenter extension study evaluated recombinant fusion protein linking recombinant coagulation factor IX (FIX) with recombinant human albumin (rIX‐FP) in hemophilia B (FIX ≤ 2%) patients previously enrolled in a phase III study or who initiated rIX‐FP prophylaxis following surgery.
Maria Elisa Mancuso, Aaron Lubetsky, Brigitte Pan‐Petesch, Toshko Lissitchkov, Azusa Nagao, Wilfried Seifert, Yanyan Li, Elena Santagostino   +7 more
wiley   +1 more source

Profilaxis en personas con hemofilia A y B. Experiencia de cinco años

Revista Colombiana de Hematología y Oncología, 2022
Introducción: la hemofilia es una condición médica que conduce a un defecto hemostático, con manifestaciones clínicas que se presentan en los casos severos desde el primer año de vida.  Los pacientes con diagnóstico de hemofilia severa y moderada con patrón de severo, se benefician de tratamiento de profilaxis: aplicación de factor de manera continua y
Luis Eduardo Pino Villareal, Jorge Mejía, Eduardo Large, Juan Large, Iván Camilo Triana Avellaneda   +4 more
openaire   +1 more source