Results 41 to 50 of about 647 (169)

Descripción de la estructura familiar de una muestra de pacientes con hemofilia. Comparación Argentina-México / Description of a Sample of Hemophilia Patients’ Family Structures: A Comparison Between Argentina and Mexico

Revista Costarricense de Psicología, 2016
Las enfermedades crónicas como la hemofilia rebasan los marcos institucionales sanitarios y abarcan tanto la vida cotidiana de la persona como su entorno social. Esta situación se agudiza cuando el afectado es un hijo de edad pediátrica.
Maricela Osorio-Guzmán, Silvina Graña
doaj   +1 more source

Atención dental en pacientes diagnosticados con hemofilia grave a con presencia de inhibidores

Revista Científica Especialidades Odontológicas UG, 2020
Enfermedad genética recesiva, cuyo gen está asociado con el cromosoma sexual X, caracterizada por la deficiencia de algunos factores de coagulación. La hemofilia A se clasifica como deficiencia de factor FVIII, hemofilia B (FIX), hemofilia C (FXI), que ...
Andrea Caiza Rennella, Andrea Terreros-Peralta, María Fernanda Paredes Baidal, Aura Lucía Bayona   +3 more
doaj   +1 more source

Hemofilia

Medicinus, 2018
Hemophilia A and B are X-linked recessive diseases that are caused by gene mutations in factors VIII adan IX of the blood clotting cycle. Hemophilia C is an autosomal recessive disease caused by a mutation in factor XI, and acquired hemophilia is largely is an autoimmune process.
Michael Susanto, Andree Kurniawan
openaire   +2 more sources

Perdarahan Intrakranial pada Hemofilia: Karakteristik, Tata Laksana, dan Luaran

Sari Pediatri, 2016
Latar belakang. Perdarahan intrakranial merupakan salah satu penyebab mortalitas tertinggi pada hemofilia dan morbiditas berupa gangguan neurologis.
Novie Amelia C, Djajadiman Gatot, Endang Windiastuti, Setyo Handryastuti   +3 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

Pseudotumor Hemofilia, Suatu Komplikasi Hemofilia yang Jarang

Jurnal Kedokteran Brawijaya, 2016
Pseudotumor adalah kista berisi darah pada jaringan lunak atau tulang. Satu sampai dua persen hemofilia berat menyebabkan pseudotumor, yang bisa berasal dari jaringan lunak atau pada subperiosteal atau area intraosseus. Pseudotumor jarang terjadi namun merupakan komplikasi hemofilia yang berbahaya. Kami laporkan kasus pseudotumor hemofilia pada seorang
Ade Nurshanty, Djoko heri Hermanto
openaire   +2 more sources

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

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

Cumplimiento de los indicadores de gestión del riesgo en salud del modelo de atención en pacientes con hemofilia A y B en una entidad administradora de planes de beneficios

Interdisciplinary Journal of Epidemiology and Public Health, 2020
Introducción: En Colombia la hemofilia es considerada la enfermedad huérfana de mayor prevalencia y mayor impacto económico para el sistema de salud colombiano. Por su difícil manejo, diagnóstico, tratamiento, gravedad, discapacidad, mortalidad e impacto
Diana Karolina Ocoro, Francia Helena Murillo   +1 more
doaj   +1 more source