Search results for "emofilia"

Foot health-related quality of life in hemophiliacs: A case-control study

2020

Background: Haemophilia is considered as a chronic genetic disease related with alteration in coagulation mechanism which affects to health related quality of life (HQoL). Purpose: The goal compared marks of HQoL, in haemophiliacs with respect non haemophilic subjects. Methods: A population of 74 subjects, were recruited from association of haemophilic illness separated in haemophilic subjects (n = 37) and no haemophilic (n = 37). For subjects who suffered haemophilia were enlisted from the association of haemophilic illness after a seminar of 45 minutes to them and to their relatives about foot health. Control subjects, were recruited from their relatives who live with the patient. The mar…

Sporting Activities and Quality of Life in Children With Hemophilia: An Observational Study.

2016

Sports activities are part of multidisciplinary treatments in people with hemophilia. Aim: The objective of this study was to assess the incidence of sports activities in the quality of life as perceived by children with hemophilia. Methods: A total of 53 children with hemophilia aged 7 to 13 years and 51 children without hemophilia were evaluated. The perception of quality of life, clinical variables, and the frequency of sports activities were registered. The joint condition of patients with hemophilia was measured with the Spanish version of the Haemophilia Joint Health Score. Results: There were no significant differences in the perception of quality of life between children with hemoph…

Impact of Depression on Patients With Hemophilia: A Retrospective Case-Control Research

2022

BackgroundHemophilia is an inherited recessive hemorrhagic disorder of the X-linked type, suffered by the male sex. Adults with hemophilia are coping with numerous diagnostics, associated comorbidities, pain, and difficult gait by arthropathy in ankles and feet. Physical pains contribute to depression in patients with hemophilia.PurposeThe study aimed to assess the impact of depression in adult patient with hemophilia and to compare it with healthy matched-paired controls. Methods: The sample consisted of 100 participants (median age 42.50 ± 30). Patients with hemophilia were recruited from Spanish Hemophiliac Associations (n = 50) and healthy subjects (n = 50) from a Clinic Podiatry Practi…

Comparación de la actividad física y los comportamientos sedentarios en jóvenes hemofílicos durante diferentes estaciones del año

2015

Hoy en día, la población de jóvenes hemofílicos posee un estado de salud similar o igual al del resto de la población sana, por tanto la tendencia sedentaria de la sociedad también podría estar afectando a este colectivo. Desde hace unos años, los especialistas recomiendan la práctica de Actividad Física (AF) para favorecer un desarrollo muscular armónico que se traduce en una mayor estabilidad articular y menor riesgo de sangrados. También, la mejora de los tratamientos y calidad de la medicación ha favorecido en gran medida la buena condición física de los hemofílicos jóvenes. Por las razones expuestas en el párrafo anterior, podemos extrapolar la tendencia sedentaria de los jóvenes sanos…

Using the Hemophilia Joint Health Score for assessment of children: Reliability of the Spanish version

2018

Introduction: Numerous measuring instruments for the evaluation of hemophilic arthropathy have been developed. One of the most used systems is the Hemophilia Joint Health Score (HJHS) given its sensitivity to clinical changes appearing in the joints because of recurrent hemarthrosis. Objective: Assessing the interrater reliability, using the Spanish version of the HJHS (version 2.1) in children with hemophilia. Design: Reliability study to assess the interrater reliability of the Spanish version of HJHS. Methods: A sample of 36 children aged 7–13 years diagnosed with hemophilia A or B was used. Two physiotherapists performed physical assessments with the Spanish version of the HJHS. Descrip…

Balance evaluation in haemophilic preadolescent patients using Nintendo Wii Balance Board®

2016

Introduction: Alterations in the musculoskeletal system, especially in the lower limbs, limit physical activity and affect balance and walking. Postural impairments in haemophilic preteens could increase the risk of bleeding events and deteriorate the physical condition, promoting the progression of haemophilic arthropathy. Aim: This study aims to evaluate static postural balance in haemophilic children, assessed by means of the Wii Balance Board® (WBB). Methods: Nineteen children with haemophilia and 19 without haemophilia aged 9-10 years, have participated in this study. Postural balance was assessed by performing four tests, each one lasting 15 s: bipodal eyes open (BEO), bipodal eyes cl…

Il trattamento riabilitativo nello stupor del nervo coraco brachiale da vasto ematoma in paziente con deficit di fattore II: case report.

2017

Una nuova mutazione nell’esone 4 del gene del FVIII causa un quadro di emofilia moderata.

2006

INTRODUZIONE. L’emofilia su scala mondiale rappresenta la più comune diatesi emorragica X linked. In Sicilia circa 140 famiglie sono soggette a tale condizione. Clinicamente l’emofilia è distinta in forma severa, moderata e lieve in base all’attività del fattore VIII (F8). La forma grave dell’emofilia A è caratterizzata dalla assenza di fattore VIII plasmatico e dall’attività del fattore VIII plasmatico < 1% ed è causata per il 50 % dalla inversione dell’introne 22 del gene del fattore VIII e per il 5% dalla inversione dell’introne 1. La restante parte di alterazioni genetiche riguarda numerose mutazioni puntiformi tipo missense, non-sense e frameshift. La forma moderata è dovuta più freque…

Profilo delle mutazioni più prevalenti del gene F8 nella popolazione Siciliana: identificazione di una nuova variante

2008

L’Emofilia A, la più comune causa di disordine emorragico nell’uomo, è causata da una grande varietà di mutazioni genetiche nel gene F8 con un ampio range di quadri clinici definiti: forma severa (FaVIIIC G al nucleotide -2 nell’introne 16 (IVS16 -2). Tale mutazione porta verosimilmente ad una alterazione del sito di splicing e non essendo presente nei due genitori è da ritenersi una mutazione de novo.

Precisión diagnóstica de la ecografía con respecto a la Resonancia Magnética como patrón de referencia en la afectación sinovial, condral y ósea subc…

2020

Se intentará demostrar la exactitud de la ecografía para identificar los signos precoces de la artropatía hemofílica comparativamente con la exploración de RM considerada como el patrón de referencia. También se pretende comparar los dos métodos radiológicos, ecografía y RM, en una población significativa de pacientes con hemofilia y la variabilidad interobservador de la valoración ecográfica. Además, se busca establecer la sensibilidad de las escalas rápidas para establecer un diagnóstico exacto y el control de la respuesta al tratamiento. Por último, se pretende generar evidencia sobre la rentabilidad diagnóstica de la ecografía en la detección de restos de hemosiderina dado que solo se h…