World Federation of Hemophilia Gene Therapy Registry

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/156126/2/hae14015_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/156126/1/hae14015.pd

Predictors of quality of life among adolescents and young adults with a bleeding disorder

Abstract Background Health-related quality of life (HRQoL) in adolescents and young adults with bleeding disorders is under-researched. We aimed to describe factors related to HRQoL in adolescents and young adults with hemophilia A or B or von Willebrand disease. Methods A convenience sample of volunteers aged 13 to 25 years with hemophilia or von Willebrand disease completed a cross-sectional survey that assessed Physical (PCS) and Mental (MCS) Component Summary scores on the SF-36 questionnaire. Quantile regression models were used to assess factors associated with HRQoL. Results Of 108 respondents, 79, 7, and 14% had hemophilia A, hemophilia B, and von Willebrand disease, respectively. Most had severe disease (71%), had never developed an inhibitor (65%), and were treated prophylactically (68%). Half of patients were aged 13 to 17 years and most were white (80%) and non-Hispanic (89%). Chronic pain was reported as moderate to severe by 31% of respondents. Median PCS and MCS were 81.3 and 75.5, respectively. Quantile regression showed that the median PCS for women (61% with von Willebrand disease) was 13.1 (95% CI: 2.4, 23.8; p = 0.02) points lower than men. Ever developing an inhibitor (vs never) was associated with a 13.1-point (95% CI: 4.7, 21.5; p < 0.01) PCS reduction. MCS was 10.0 points (95% CI: 0.7, 19.3; p = 0.04) higher for prophylactic infusers versus those using on-demand treatment. Compared with patients with no to mild chronic pain, those with moderate to severe chronic pain had 25.5-point (95% CI: 17.2, 33.8; p < 0.001) and 10.0-point (95% CI: 0.8, 19.2; p = 0.03) reductions in median PCS and MCS, respectively. Conclusions Efforts should be made to prevent and manage chronic pain, which was strongly related to physical and mental HRQoL, in adolescents and young adults with hemophilia and von Willebrand disease. Previous research suggests that better clotting factor adherence may be associated with less chronic pain

Validation of a hand-held lactate device in determination of blood lactate in critically injured patients

OBJECTIVESAdmission blood lactate is an accurate predictor of injury severity and mortality in trauma patients. The purpose of this study was to evaluate a portable lactate analyzer in a clinical setting by patient care staff. DESIGNA prospective, single-operator control solution and patient sample study, using two test devices and a reference device. SETTINGAn urban Level I trauma center. PATIENTSA convenience sample of 47 trauma patients. INTERVENTIONSIntra-assay precision was demonstrated by performance of consecutive analyses of two lactate control solutions (high and low lactate control concentrations) by medical students and physicians. Split sample, simultaneous testing of the portable lactate analyzer was then performed on 66 whole blood specimens from a convenience sample of 47 trauma patients admitted to an urban Level 1 trauma center over 4 mos. Samples were tested simultaneously tested on two portable lactate analyzers and a reference Instrument. MEASUREMENTS AND MAIN RESULTSAcceptable intra-assay precision was achieved. Regression analysis for two test instruments demonstrated a slope of 0.920, an intercept of 0.323, an r of .982, and an SEM of 0.496. Regression analysis for test instrument "A" vs. the reference instrument showed a slope of 0.861, an intercept of 0.209, an r of .977, and an SEM of 0.598. Regression analysis for test instrument "B" vs. the reference instrument demonstrated a slope of 0.929, an intercept of -0.095, an r of .983, and an SEM of 0.506. CONCLUSIONSGood correlation with a low SEM was obtained over a wide range of clinically relevant lactate values. Use of point of care lactate analysis will decrease analytic time, making an important diagnostic parameter immediately available in the critical care setting. (Crit Care Med 1998; 26:1523-1528

Interrelationship between depression, anxiety, pain, and treatment adherence in hemophilia: Results from a US cross-sectional survey

Purpose: Depression, anxiety, pain, and treatment adherence have reciprocal effects not characterized extensively in hemophilia. This study explored the relationships between depression, anxiety, chronic pain, and treatment adherence in adults with hemophilia. Patients and methods: Adults with self-reported hemophilia A or B completed the crosssectional IMPACT QoL II survey. Depression (9-item Patient Health Questionnaire [PHQ-9]), anxiety (7-item Generalized Anxiety Disorder scale [GAD-7]), chronic pain (Faces Pain Scale- Revised [FPS-R]), social support (Duke UNC Functional Social Support questionnaire), level of pain control, clotting factor treatment adherence (VERITAS-Pro or -PRN), and previous depression/anxiety were analyzed. Results: Among 200 participants (male, 77.3%; female, 22.8%), 54% had PHQ-9 and 52% had GAD-7 scores indicating moderate to severe depression or anxiety without diagnosis of either disorder. Participants with PHQ-9 scores ≥10 (moderate to severe depression) were more likely to have lower treatment adherence than those with PHQ-9 scores \u3c10 \u3e(

The utility of venous lactate to triage injured patients in the trauma center

Background: Field triage criteria for trauma patients results in over-triage rates of 30% to 50% to achieve under-triage rates of 10%. This large number of patients may stress trauma center resources. Elevated arterial lactate (ALAC) levels have been shown to be a marker of serious injury but the need for arterial sampling limits the utility of the determination. The goal of this study was: 1) to determine the correlation between venous lactate (VLAC) and ALAC; 2) to determine whether VLAC could identify those patients with serious injuries; and 3) to compare an elevated VLAC level against standard triage criteria (STC) in their ability to identify major injury. Study Design: Arterial and venous samples for blood gas and lactate analyses were obtained in 375 patients within 10 minutes of patient arrival to the trauma center. Arterial and venous samples were drawn within 2 minutes of each other, placed on ice, and analyzed within 10 minutes of sampling. The location of sampling was left to physician discretion. Data collected included injury mechanism, demographics, admission vital signs, emergency department disposition, length of stay, and injury severity scores (ISS). Admission to the ICU, need for emergency operation, length of stay, and death were noted. Emergency medical service staff were queried to determine which standard triage criteria (STC) were fulfilled. Results: The mean ALAC was 3.11 mmol/L (SD 3.45, 95% confidence interval [CI] 2.67 to 3.55) and mean VLAC was 3.43 mmol/L (SD 3.41, 95% CI 2.96 to 3.90). There was no significant difference between ALAC and VLAC. The correlation between ALAC and VLAC was 0.94 (95% CI 0.94 to 0.96, p = 0.0001). An elevated VLAC predicted moderate to severe injury and there was a significant association between an increased lactate and maximum Abbreviated Injury Score (AIS) of 4 and 5 (ANOVA, F = 8.26, p 2 days. In comparison with STC, a VLAC ≥ 2 mmol/L decreased under-triage in patients with ISS ≥ 13 by one half (11% versus 24%) for patients with ISS ≥ 13 and decreased over-triage by 28% (46% versus 64%). These data were most pronounced for patients injured in motor vehicle collisions. Conclusions: VLAC is an excellent approximation for ALAC. A VLAC ≥ 2 mmol/L appears to predict an ISS ≥ 13, the need for ICU resources, and prolonged hospital stays. VLAC was significantly better than STC in all patients and was most useful in victims of blunt trauma, especially motor vehicle collisions