[Educational needs of parents of hemophiliac children: An approach to comprehensive care]. / Necesidades educativas de padres de niños hemofílicos: Una aproximación hacia el cuidado integral.

INTRODUCTION: In Chile, hemophilia was incorporated into the System of Explicit Health Guarantees (GES), which ensures access to treatment and financial protection for these patients. To support patients and their families, educational programs have been proposed that focus on managing possible complications of the pathology, first aid, and prophylaxis, however, there are no educational instances focused on the needs of the patients. OBJECTIVE: To know the educational needs of parents with hemophilic chil dren and adolescents regarding contents, people, place, methodology, and stage of the illness. Sub jects and Method: Descriptive qualitative study of 15 parents with hemophilic children in outpatient care. For the data collection, we used a semi-structured interview with five open questions, aimed at the search for educational needs such as what (contents), how (methodology), when (moment), who (person), and where (place) is education needed. For data analysis, were used the Berelson's content analysis technique. To guarantee the scientific validity of the qualitative results, the methodological rigor criteria of Guba and Lincoln were used. RESULTS: The most frequent educational needs reported by parents include content such as venipuncture training, injury prevention, pathophysiological as pects of the disease, among others; with methodology developed in group workshops and guided by a peer; in a comfortable and familiar place; in three stages of the disease's development (diagnosis, blee ding events, and development of autonomous activities), and provided by professionals and peers. CONCLUSION: Knowledge of educational needs is the basis for the creation of an educational program that guides the comprehensive care of hemophilic children and their parents.

Effects of exercise in people with haemophilia: An umbrella review of systematic reviews and meta-analyses.

INTRODUCTION: There is considerable evidence to indicate that exercise can have a positive impact on the treatment of people with haemophilia (PWH). However, there is a requirement for in-depth and comprehensive studies. AIM: This study aimed to analyse the evidence regarding the effects of exercise in PWH through an umbrella review of existing systematic reviews and meta-analyses. The secondary objective was to analyse the quality of the evidence. METHODS: This umbrella review followed the PRISMA guidelines and was documented in the PROSPERO registry (CRD42019140785). We searched the PubMed, Web of Science, SPORTDiscus, Scopus, CINAHL and Cochrane Library databases. The methodological quality of the systematic reviews was assessed using AMSTAR 2. RESULTS: Out of a total of 1030 systematic reviews, 10 fulfilled the criteria. Only one study was classified as high quality, and half of the selected studies were classified as low or critically low quality according to AMSTAR 2. Furthermore, most reviews investigated the effects of strength training and aquatic training, with positive results associated with low adverse events. Range of motion, strength and pain were the most investigated variables. All reviews showed overlapping studies. CONCLUSION: Exercise is an effective way to treat haemophilia and has a low incidence of related adverse events. However, caution is needed in the interpretation of the results due to half of the selected reviews showed low or critically low quality and only one have high quality.

Low bone mineral density and associated factors in patients with haemophilia in Colombia.

INTRODUCTION: Patients with haemophilia may have lower levels of bone mineral density (BMD) compared with the general population. Moreover, haemophilic patients have increased risk factors for low bone mineral density (LBMD) such as arthropathy and resulting immobility, increasing their risk for osteoporosis and fractures. AIM: To assess the prevalence of LBMD and associated risk factors among a group of Colombian haemophilic patients. METHODS: In this case-control study, 90 patients with haemophilia A and B, over the age of five, were recruited. Controls were healthy participants matched by age, gender, body mass index (BMI), socioeconomic status, and race. All participants underwent dual energy X-ray absorptiometry (DXA) and the Global Physical Activity Questionnaire. Blood tests were collected to evaluate LBMD determinants in cases. RESULTS: BMD was lower in cases than in the control group. BMD of femoral necks was 0.907 g/cm2 in cases vs. 1.020 g/cm2 in controls (P = .019), and BMD of hips 0.930 g/cm2 in cases vs. 1030 g/cm2 in controls (P = .019). The greater the severity of haemophilia, the lower BMD in spine, femoral neck, and hips. Elevated C-protein levels were found in 44.1% of patients with LBMD and 14.8% with normal BMD (P = .003). The study found an adjusted prevalence ratio of 2.11, indicating that haemophilic patients are two times more likely to have LBMD (CI95% = 1.43-3.11 P < .001). CONCLUSION: Results from the present study showed that haemophilia was associated with a higher frequency of LBMD. Severity of haemophilia, haemophilic arthropathy, and elevated C-reactive protein levels was directly associated with LBMD.

Muscle function deterioration in patients with haemophilia: Prospective experience from Costa Rica.

INTRODUCTION: In haemophilia, recurrent joint bleeds are responsible for the development of chronic joint damage, because blood induces biochemical changes in joint structures. Joint degeneration is a long process, and structural damage is often preceded by joint dysfunction, which is represented by quantitative and qualitative changes in the contraction pattern of muscles around the joints. Muscle function in patients with haemophilia is still poorly investigated. AIM: The aim of this 2-year prospective study was to assess the changes in muscle function of lower limbs in a group of patients affected with haemophilia in San José, Costa Rica. METHODS: Muscle function of lower limbs was assessed by means of surface electromyography (sEMG) accomplished at study enrolment and after 2 years of follow-up. Gluteus medius, vastus medialis, biceps femoris, gastrocnemius and tibialis anterior were examined. All patients underwent concurrent clinical examination using Haemophilia Joint Health Score (HJHS). RESULTS: Sixty patients aged 2-43 years with severe haemophilia underwent clinical and sEMG evaluation. Thirty-two patients (53%) had target joints. sEMG parameters were altered in all patients and were not correlated to the presence of target joints and/or an abnormal HJHS. Muscle function deterioration was observed after 2 years of follow-up despite an unmodified HJHS. CONCLUSIONS: Muscle function of lower limbs as detected by means of sEMG was impaired in patients with haemophilia irrespective of the presence of overt joint damage. sEMG is a simple and sensitive assessment tool able to detect muscle dysfunction and so favouring the implementation of early rehabilitation therapy.

Favourable impact of regular swimming in young people with haemophilia: experience derived from 'Desafio del Caribe' project.

Swimming is beneficial for persons with haemophilia (PWH) providing good maintenance of the cardiovascular and musculoskeletal system and improving many psychological characteristics. In the Desafío del Caribe Project, young PWH from Venezuela and Mexico took part in an open water competition in the Gulf of Mexico under a multidisciplinary team supervision. Eight severe haemophilia A, two moderate haemophilia A, one severe haemophilia B and two moderate haemophilia B subjects were included. Haematological, musculoskeletal and psychological evaluations were carried out before and during training for the competition. Training program included physical exercise routines and swimming practices that alternated between pools and open water. Swimmers had coverage with factor concentrates before pool and open water trainings. In physiatric evaluations, the Hemophilia Joint Health Score (HJHS) was used. The objective of the psychology area was to analyse self-esteem, precompetition anxiety, coping mechanisms and relaxation levels. The need of factor prophylaxis before intense trainings was confirmed. In the musculoskeletal system a decrease of elbow pain as well as an increase of muscle strength in the ankles were observed. In the psychological area significant differences between the first and second test in self-esteem levels, cognitive anxiety and group cohesion were found. PWH must be provided with orientation and encouragement to practice swimming regularly. High competition exercise must be supervised by a multidisciplinary team which must evaluate the pros and cons of the activity to make relevant recommendations.

The acute effect of moderate intensity aquatic exercise on coagulation factors in haemophiliacs.

The objective of this cross-sectional study was to analyse the acute effect of aquatic exercise on haemostasis in persons with haemophilia. Ten adult haemophiliacs (8 type A, 2 type B) familiarized with aquatic training performed a 20-min exercise session in a swimming pool at an intensity of ~70% maximum heart rate (HR). Blood samples were collected immediately after the training session. The haemostatic parameters selected for analyses were factor VIII (FVIII), prothrombin time (PT), activated partial thromboplastin time (APTT) and fibrinogen. There were unclear effects of the exercise bout on FVIII and APTT, with a possibly beneficial effect on PT (-11·4%; 90% confidence interval: -26·1;3·3%), and a trivial change on fibrinogen levels. It was found an association between the mean rise in HR during exercise and the decrement in PT after exercise (r = 0·729; P = 0·026). The greater changes were observed in the patients diagnosed with a moderate level of haemophilia. It is concluded that a short bout of moderate intensity of aquatic exercise may have a positive influence on PT in adults with haemophilia with greater changes in those individuals exhibiting a greater rise in HR during exercise. This may be an important issue to the haemostatic control of haemophiliacs in clinical settings. Further studies are warranted for testing the influence of different aquatic exercise intensities on haemostasis.

Postural adjustment after an unexpected perturbation in children with haemophilia.

Children with haemophilia often bleed inside joints and muscles, which may impair postural adjustments. These postural adjustments are necessary to control postural balance during daily activities. The inability to quickly recover postural balance could elevate the risk of bleeding. To determine whether children with haemophilia have impaired postural adjustment after an unexpected perturbation compared with healthy children. Twenty children with haemophilia comprised the haemophilic group (HG), and 20 healthy, age-paired children comprised the control group (CG). Subjects stood on a force plate, and 4% of the subjects' body weight was applied via a pulley system to a belt around the subjects' trunks. The centre of pressure (COP) displacement was measured after the weight was unexpectedly released to produce a controlled postural perturbation followed by postural adjustment to recover balance. The subjects' postural adjustments in eight subsequent intervals of 1 s (t1-t8), beginning with the moment of weight removal, were compared among intervals and between groups. The applied perturbation magnitudes were the same for both groups, and no difference was observed between the groups in t1. However, the COP displacement in t2 in the HG was significantly higher than in the CG. No differences were observed between the groups in the other intervals. Within-group analysis showed that the COP was higher in t2 than in t4 (P = 0.016), t5 (P = 0.001) and t8 (P = 0.050) in the HG. No differences were observed among intervals in the CG. Children with haemophilia demonstrated differences in postural adjustment while undergoing unexpected balance perturbations when compared with healthily children.

Computerized pedobarography in the characterization of ankle-foot instabilities of haemophilic patients.

Among the most common clinical manifestations of haemophilia are joint haemorrhages. This study aimed to verify whether repetitive ankle haemarthrosis is associated with instability of the rear foot. We evaluated haemophilic patients with repetitive bleeding in the ankles, 39 of type A and four of type B, whose mean age was 16.1 years. All presented a functional gait, without the need for motion assistance devices. The number of rear-foot and ankle haemarthrosis episodes during the 6 months prior to the study was verified from the medical records of each patient. After verifying the alignment of the rear foot of the patients, we evaluated the subjects through computerized pedobarography with the f-scan system, emphasizing the study of the trajectory of the centre of pressure (COP) with each step taken. All patients received functional orthoses according to the results of these examinations, and were re-evaluated 1 week and 6 months after being fitted. The number of haemarthrosis episodes at the rear foot and the ankle was compared with the occurrence of joint bleeding within the previous 6 months. In the first examination, the COP trajectory showed that all the 43 patients studied had some sort of instability. Six months later, a significant reduction in the frequency of spontaneous bleeding events (P<0.001) concerning the rear foot and the ankle was observed. This method of evaluation was useful to identify joint instabilities, allowing the best prescription of orthoses to improve stability in the rear foot and the ankle.

Pharmacokinetics, thrombogenicity and safety of a double viral inactivated factor IX concentrate compared with a prothrombin complex concentrate.

Therapeutic options for developing countries have to assure an optimum safety and efficacy and low-cost antihaemophilic concentrates. A single blind randomized crossover study was carried out in 12 previously treated HB patients, comparing the pharmacokinetics (PK), thrombogenicity (TG) and safety of two plasma-derived double-inactivated (solvent/detergent heating at 100 degrees C, 30 min) factor IX (FIX) concentrates, UMAN COMPLEX DI (product A) [plasma-derived prothrombin concentrates (PCC)] and a high purity FIX concentrate AIMAFIX DI (product B, HPFIX). In a non-bleeding state, they received one single intravenous dose 50 IU FIX kg(-1) of PCC or HPFIX, and after a wash-out period of 14 days, the other product. We evaluated acute tolerance and determined PK parameters based on FIX levels measured over a 50 h postinfusion period. We studied fibrinogen, platelets, antithrombin, F1 + 2, TAT, D-dimer, over a 360 min postinfusion period. Ten cases remained in on-demand treatment for 6 months, five with PCC and five with HPFIX. PK and anti-FIX inhibitors were repeated at 3 and 6 months. No inhibitors were detected. PK values (PCC vs. HPFIX): clearence (CL; mL h(-1) kg(-1)) 5.2 +/- 1.4 vs. 6.5 +/- 1.4; the volume of distribution at steady state (mL kg(-1)) 154.9 +/- 54.9 vs. 197.5 +/- 72.5; mean residence time (h) 29.7 +/- 8.1 vs. 30.7 +/- 9.2; T(1/2) (h) 22.3 +/- 7 vs. 23.5 +/- 12.3; incremental recovery (IR; U dL(-1) U(-1) kg(-1)) 0.96 +/- 0.17 vs. 0.76 +/- 0.13. HPFIX showed significant lower IR and higher CL. There were no differences in PK at 3 and 6 months. In TG, significant increments in TAT and F1 + 2 at 30 min and 6 h were found with PCC. Product B PK results agrees with reported results for other HPFIX preparations. Use of PCC product A has to consider its thrombogenic activity.

Función fagocítica de los leucocitos polimorfonucleares neutrófilos (PMN) en pacientes hemofílicos / Phagocytic function of neutrophilic polymorphonuclear leukocytes (NPM) in hemophilic patients

Se estudió la función fagocitíca de los leucocitos polimorfonucleares neutrófilos (PMN) en un grupo de 25 pacientes hemofílicos con edades comprendidas entre 10 y 58 años. Todos los pacientes recibieron tratamiento con crioprecipitado. Los resultados de la ingestiòn y opsonización no presentaron diferencias estadísticamente significativas al compararlos con el grupo control: sin embargo, el porcentaje de PMN adherentes en los pacientes hemofílicos resultó significativamente elevado (pacientes 95,7% + 1,96; controles 88,7 + 5,35%)

Hemofilia ¿ enfermedad invalidante? / Is hemophilia a disabling disease?

Se revisaron retrospectivamente los registros clínicos de 35 pacientes con hemofilia controlados en un hospital de niños de Santiago entre los años 1968 y 1983, treinta y dos con hemofilia A y 3 con hemofilia B. El tiempo de sangría de Ivy estaba prolongado en 7/29 pacientes (24%). En 24/35 (68%) de los pacientes los síntomas comenzaron antes de los 2 años de edad, en relación con la deambulación. En la mitad de los casos del diagnóstico definitivo se confirmó en menos de un año desde las primeras manifestaciones, siendo los hematomas las causas más comunes de consulta. Sólo 11/35 (31%) de los pacientes tenían se cuelas articulares en el momento de la última evaluación, las que no guardaron relación con el tiempo de seguimiento, pero 7/11 tenían hemofilia severa (Factor VIII < 1%). En 19 pacientes se realizaron intervencicones quirúrgicas incluyendo 2 tonsilectomías, una apendicectomía y una reparación completa de tratalogía de Fallot con circulación extracorpórea: ninguno sufrió complicaciones debidas a su hemofilia. La vida de los pacientes con hemofilia puede ser prácticamente normal, con escasas complicaciones y secuelas desde la introducción de los crioprecipitados para suplir el factor deficiente