Genetics educational needs in China: physicians’ experience and knowledge of genetic testing

PurposeThe aims of this study were to explore the relationship between physicians’ knowledge and utilization of genetic testing and to explore genetics educational needs in China.MethodsAn anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated.ResultsSixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P < 0.05). Sixty-six percent of physicians indicated a desire for specialized genetic services, and 84% reported a desire for additional genetics education.ConclusionThis study demonstrated a sizable gap between Chinese physicians’ knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med17 9, 757–760.     

Concentrations plasmatiques du peptide natriurétique type B (BNP) et du fragment N-terminal du propeptide (NT-proBNP) aux urgences : influence de la fonction rénale

We studied the influence of renal function on brain natriuretic peptide (BNP) and N-terminal pro-brain natriuretic peptide (NT-proBNP) concentrations in the diagnostic of cardiac-related dyspnoea (CRD) in 381 patients (aged 79 ± 12 years) admitted to the Emergency Department (ED). Estimated glomerular filtration rate (eGFR) was calculated using the Levey's formula. BNP and NT-proBNP concentrations were increased in patients with CRD (1088 ± 1044 vs 365 ± 578 pg/ml, P < 0.0001; 6823 ± 6569 pg/ml vs 2598 ± 4840 pg/ml, P < 0.0001, respectively), and were correlated to eGFR values whatever the final diagnostic (P < 0.0001). Mean BNP and NT-proBNP values stratified by ED diagnosis increased over CKD levels, but a significative difference was conserved between CRD and non-CRD patients (P < 0.05). BNP and NT-proBNP cut points for the diagnostic of cardiac-related dyspnea increased in patients with eGFR less than 60 ml/minute/1.73 m² (480 pg/ml and 2000 pg/ml, respectively) in comparison with patients who's eGFR is more than 60 ml/minute/1.73 m² (300 and 1400 pg/ml, repectively).     

Incidence des gastroentérites à rotavirus chez les enfants de moins de cinq ans consultant un pédiatre ou un médecin généraliste en France

BackgroundRotavirus (RV) is the main infectious agent of severe acute gastroenteritis (AGE) in infants and children under 5 years. Given the recent availability of new vaccines, it is important to accurately assess the incidence of rotavirus gastroenteritis (GERV) and their medical and epidemiological consequences.MethodsThis work is the French part of study program called SPRIK, a multicenter, prospective, observational study conducted from October 2005 to May 2007 to estimate the annual incidence of GERV within children under 5 years visiting a general practitioner or pediatrician. It presents data collected by 41 general practitioners and 36 paediatricians located throughout the French metropolitan territory. A stool sample was taken for every child. Rotavirus presence was sought by the physician using a rapid immunochromatographic test. French results are presented in this article.ResultsA total of 1648 GEA episodes corresponding to 1463 eligible patients were included in the study mainly from December to May (peak in February–March). The incidence rate of GERV leading to consultations in general practice was 1357 cases per 100,000 patient-years (PY) (1.36%), with a 95% confidence interval of [1345–1368]. The peak incidence occurs before 2 years. GERV accounted for 21% of all GEA cases seen by paediatricians and general practitioners. Patients with GERV were younger (14.1 ± 10.8 versus 18.4 ± 13.9 months for other GEA, P < 0.0001) and had more severe clinical symptoms: presence of fever (32.6% versus 20.0%, P < 0.0001), behavioural symptoms (45.6% versus 20.8%, P < 0.0001) and dehydration (48.7% versus 21.2%, P < 0.0001). GERV episodes were considered severe in 79.7% of cases, using the Vesikari scale. More than 86% patients received oral rehydration during the episode and 13 patients (5.8%) were hospitalized. Nearly 80% GERV episodes were considered severe using the Vesikari scale. Main genotypes were G1P[8] rotavirus (44%) and G9P[8] rotavirus (35%) types.ConclusionThe incidence rate reported in this study is close to results of previous studies done in Europe. The frequency and severity relative to GERV support vaccination in very young children to reduce the burden associated with this pathology.     

Quadriceps/hamstrings co-activation increases early after total knee arthroplasty

Quadriceps and hamstrings weakness and co-activation are present following total knee arthroplasty (TKA) and may impair functional performance. How surgery and post-operative rehabilitation influence muscle activation during walking early after surgery is unclear.PurposeExamine muscle strength and activation during walking before and one and 6-months post-TKA.MethodsTen patients (n = 6 female; age: 64.7 ± 7.9 years; body mass index[BMI]:29.2 ± 2.5 kg/m²) and 10 healthy adults (n = 6 female; age: 60.6 ± 7.4 years; BMI: 25.5 ± 4.0 kg/m²) participated. The patients underwent bilateral quadriceps and hamstrings strength testing and assessment of quadriceps/hamstrings co-activation and on/off timing using surface electromyography during a six-minute walk test (6MW). Groups, limbs, and changes with TKA surgery were compared.ResultsPatients reported greater 6MW knee pain pre- versus post-TKA and compared to controls (P < 0.05). Patients had weaker surgical limb hamstrings (P < 0.05) and bilateral quadriceps (P < 0.05) strength than controls pre- and post-TKA. Before and 1-month post-TKA, patients had side-to-side differences in quadriceps and hamstrings strength (P < 0.05). Controls walked farther than patients (P < 0.01). Patients demonstrated greater surgical limb co-activation pre-operatively than controls (P < 0.05). Co-activation was higher bilaterally one-month post-TKA compared to controls (P < 0.05). Patients turned off their quadriceps later during stance than controls before and 1-month post-TKA (P < 0.05).ConclusionsMuscle strength, co-activation, and timing differed between patients and controls before and early after surgery. Rehabilitation to improve strength and muscle activation seems imperative to restore proper muscle firing patterns early after surgery.     

Macrophage migration inhibitory factor contributes to anti-neutrophil cytoplasmic antibody-induced neutrophils activation

BackgroundMacrophage migration inhibitory factor (MIF) is an inflammatory mediator released by macrophages that is central to the innate immune system, with an upstream role in the inflammatory cascade. MIF is one of the most important pathogenic factors in the development of the autoimmune diseases. In the current study, we investigated the role of MIF in anti-neutrophil cytoplasmic antibody (ANCA)-induced neutrophil activation.MethodsPlasma levels of MIF from 31 patients with active ANCA-associated vasculitis (AAV) were analyzed by ELISA. The various effects of MIF in ANCA-induced neutrophil respiratory burst and degranulation were measured.ResultsPlasma levels of circulating MIF were significantly higher in AAV patients with active disease compared with those in remission and healthy controls. Compared with MIF-primed neutrophils, the MFI value increased significantly in MIF-primed neutrophils further activated with MPO-ANCA-positive IgG or PR3-ANCA-positive IgG (270.8 ± 9.7 vs. 421.5 ± 9.7, P < 0.001; 270.8 ± 9.7 vs. 414.1 ± 15.6, P < 0.001, respectively). Compared with MIF-primed neutrophils, the lactoferrin concentration increased significantly in the supernatant of MIF-primed neutrophils further activated by MPO-ANCA-positive IgG (567.8 ± 61.2 ng/ml vs. 1677.0 ± 42.5 ng/ml, P < 0.001) or PR3-ANCA-positive IgG (567.8 ± 61.2 ng/ml vs. 1546.0 ± 116.2 ng/ml, P < 0.001), respectively. Interleukin-8 (IL-8), IL-6 and IL-23 were involved in ANCA-induced activation of MIF-primed neutrophils.ConclusionsMIF primes neutrophils by increasing ANCA antigen translocation. The primed neutrophils can be further induced by ANCA, resulting in respiratory burst and degranulation.     

Quadriceps muscle compensatory activations are delayed following anterior cruciate ligament reconstruction using hamstring tendon graft

BackgroundCompensatory and anticipatory quadriceps activation (CQA and AQA) in response to postural perturbations are essential for functional stability of the knee. This study aimed at investigating CQA and AQA before and after anterior cruciate ligament reconstruction (ACLR) using hamstrings graft.MethodsTwelve participants with ACLR and 12 healthy controls were exposed to 10 either unpredictable or predictable perturbations of the knee before ACLR (T1), two months (T2) and six months (T3) after surgery. Latencies of CQA and AQA in vastus lateralis (VL), rectus femoris (RF) and vastus medialis (VM) were measured.ResultsLatency of CQA was delayed in ACLR compared to controls at T1 for VL (105 ± 25 vs. 57 ± 9 ms; P < .001), RF (102 ± 23 vs. 56 ± 9 ms; P < .001) and VM (107 ± 24 vs. 66 ± 16 ms; P < .001), at T2 for VL (68 ± 14 vs. 55 ± 10 ms; P < .01) and at T3 for VL (105 ± 22 vs. 58 ± 7 ms; P < .001), RF (102 ± 22 vs. 58 ± 12 ms; P < .001) and VM (106 ± 20 vs. 63 ± 8 ms; P < .001). AQA occurred earlier in ACLR than in controls at T1 for VL (− 82 ± 64 vs. − 14 ± 11 ms; P < .05) and VM (− 105 ± 68 vs. -9 ± 12 ms; P < .05).ConclusionCQA are delayed following ACLR with hamstring graft and should be addressd by post-surgical rehabilitation.     

Evaluation of an interactive web-based nursing course with streaming videos for medication administration skills

PurposeNursing students should exhibit competence in nursing skills in order to provide safe and quality patient care. This study describes the design and students’ response to an interactive web-based course using streaming video technology tailored to students’ needs and the course objectives of the fundamentals of nursing skills clinical course.MethodA mixed-methodology design was used to describe the experience of 102 first-year undergraduate nursing students at a school of nursing in Jordan who were enrolled in the course. A virtual course with streaming videos was designed to demonstrate medication administration fundamental skills. The videos recorded the ideal lab demonstration of the skills, and real-world practice performed by registered nurses for patients in a hospital setting. After course completion, students completed a 30-item satisfaction questionnaire, 8 self-efficacy scales, and a 4-item scale solicited their preferences of using the virtual course as a substitute or a replacement of the lab demonstration. Students’ grades in the skill examination of the procedures were measured. Relationships between the main variables and predictors of satisfaction and self-efficacy were examined.ResultsStudents were satisfied with the virtual course (3.9 ± 0.56, out of a 5-point scale) with a high-perceived overall self-efficacy (4.38 ± 0.42, out of a 5-point scale). Data showed a significant correlation between student satisfaction, self-efficacy and achievement in the virtual course (r = 0.45–0.49, p < 0.01). The majority of students accessed the course from home and some faced technical difficulties. Significant predictors of satisfaction were ease of access the course and gender (B = 0.35, 0.25, CI = 0.12–0.57, 0.02–0.48 respectively). The mean achievement score of students in the virtual class (7.5 ± 0.34) was significantly higher than that of a previous comparable cohort who was taught in the traditional method (6.0 ± 0.23) (p < 0.05). Nearly 40% of the students believed that the virtual course is a sufficient replacement of the lab demonstration.ConclusionsThe use of multimedia within an interactive online learning environment is a valuable teaching strategy that yields a high level of nursing student satisfaction, self-efficacy, and achievement. The creation and delivery of a virtual learning environment with streaming videos for clinical courses is a complex process that should be carefully designed to positively influence the learning experience. However, the learning benefits gained from such pedagogical approach are worth faculty, institution and students’ efforts.     

Mitochondrial DNA deletion and sarcopenia

PurposeAccumulation of mitochondrial DNA deletions and the resultant impaired oxidative phosphorylation may play a pathogenic role in the mediation of age-related sarcopenia.MethodsTwenty four participants of the New Mexico Aging Process Study were classified as normal lean (n = 15) or sarcopenic (n = 9) based on body composition determined by Dual Energy x-ray Absorptiometry. Complex I and Complex IV activities were measured in the skeletal muscle samples obtained from gastrocnemius muscle. A two-stage nested polymerase chain reaction strategy was used to identify the mitochondrial DNA deletions in the entire mitochondrial genome in the skeletal muscle samples.ResultsAlthough Complex I activity was not significantly different (5.5 ± 0.9 vs. 4.6 ± 0.7 mU/mg protein, P > 0.05), Complex IV activity was higher in sarcopenic subjects (1.4 ± 0.3 vs. 1.0 ± 0.1 mU/mg protein, P < 0.05). Mitochondrial DNA deletions were mostly located in the region of Complex I and spanned from nicotinamide adenine dinucleotide dehydrogenase 1 to nicotinamide adenine dinucleotide dehydrogenase 6. Deletions in the 8,577–10,407 bp and 10,233–11,249 bp regions were associated with a significant decrease in Complex I activity (P < 0.05 and P = 0.02, respectively). Total cumulative deletion, defined as the sum of individual length of deletions in a subject, was comparable in subjects with and without sarcopenia (1760 ± 726 vs. 1782 ± 888 bp, P > 0.05). The magnitude of mitochondrial DNA deletion, however, correlated positively with lean body mass (r = 0.43, P < 0.05).ConclusionThus, mitochondrial DNA deletions are common in elderly subjects and are negatively related to Complex I activity. The positive association between mitochondrial DNA deletions and lean body mass needs to be confirmed by studies in a larger study population.     

Referencing the substitute anteroposterior line of the tibia improves rotational alignment of the tibial component in medial unicompartmental knee arthroplasty

BackgroundThere is no consensus regarding how best to determine the tibial rotational alignment in unicompartmental knee arthroplasty (UKA). The purpose of this study was to clarify whether using the substitute anteroposterior (sAP) line of the tibia, as has recently been proposed, can improve tibial rotation.MethodsThe study included 57 consecutive medial UKAs. From May 2015 to September 2016, 28 knees in 28 patients underwent UKA using the medial intercondylar ridge (MIR) line as the tibial anteroposterior (AP) reference (MIR group). From October 2016 to March 2018, 29 knees in 29 patients underwent UKA using the sAP line (sAP group). In both groups, the external rotation angle of the tibial component relative to a line perpendicular to the surgical epicondylar axis was measured using computed tomography-based three-dimensional preoperative planning software for TKA and UKA.ResultsThe mean external rotation angles of the tibial component in the MIR and sAP groups were 5.2° ± 8.5° (range, − 12.4° to 20.8°) and 0.7° ± 3.2° (range, − 6.0° to 7.4°), respectively (unpaired t test, P = 0.014). The variation in the external rotation angle of the tibial component was significantly smaller in the sAP group than in the MIR group (F test, P < 0.0001), as was the number of the outliers with more than ± 5° error (Fisher's exact test, P < 0.0001).ConclusionsThe use of the sAP line as the AP reference could improve and stabilize the rotational orientation of the tibial component in UKA procedures.     

Web-based oral health promotion program for older adults: Development and preliminary evaluation

ObjectiveThis study reports on the impact evaluation of a Web-based oral health promotion programme aimed at improving the oral health knowledge, attitudes, practices and self-efficacy of independent-living older adults from Melbourne, Australia.MethodsWith ethics approval from the University of Melbourne, a convenience sample of volunteers 55 years or older was invited to participate in a study to test a web-based oral health promotion program. Consenting volunteers were asked to undergo a structured interview as part of the pre-intervention data collection. The intervention was based on the ORHIS (Oral Health Information Seminars/Sheets) Model and involved computer interaction with six oral health presentations, with no direct oral health professional input. A one group pre-test–post-test quasi-experimental design was chosen to evaluate the intervention. A series of paired t-tests were used to compare pre-test with post-test results.ResultsForty-seven active, independent-living older adults participated in this evaluation. After the intervention participants responded with higher levels of achievement than before participating in this Web-based oral health program. Participants showed significant improvements in oral health attitudes (4.10 vs. 4.94; p < 0.01), knowledge (18.37 vs. 23.83; p < 0.0001), and self-efficacy (84.37 vs.89.23; p < 0.01), as well as, self-reported oral hygiene practices (i.e., frequency of use of dental floss) (p < 0.05).ConclusionThe e-ORHIS approach was successful in improving oral health knowledge, attitudes and self-efficacy. As such, it represents a helpful approach for the design of (oral) health interventions in older adults. Further evaluation with a larger sample is required to test the long-term impact including the economic evaluation of the e-ORHIS approach.     

Profound week 4 interferon responsiveness is mandatory for hepatitis C genotype 1 patients with unfavorable IL-28B genotype

BackgroundViral kinetics and host interleukin 28B (IL-28B) genotype determine treatment outcome in hepatitis C virus genotype 1 (HCV-1) infection.ObjectivesWe aimed to explore the interplay between interferon responsiveness at treatment week 4 and IL28B genotype in the achievement of a sustained virological response (SVR; undetectable HCV RNA 24-weeks after end-of-treatment).Study designsRs8099917 genotypes were determined in 528 HCV-1 patients with peginterferon/ribavirin. Interferon responsiveness were evaluated by the degree of week 4 viral reduction: <1 log₁₀ IU/mL, 1–2 logs₁₀ IU/mL, 2–3 logs₁₀ IU/mL, 3–4 logs₁₀ IU/mL and ≥4 logs₁₀ IU/mL reduction and/or undetectable HCV RNA, respectively.ResultsThe SVR rate was significantly higher in patients with great interferon responsiveness at week 4. A great interferon responsiveness was associated with younger age (P < 0.0001), lower body mass index (P = 0.0056), lower aspartate aminotransferase levels (P = 0.0009), higher hemogloblin concentration (P = 0.0033), higher platelet counts (P < 0.0001), male gender (P < 0.0001) and rs809997 TT-genotype (P < 0.0001). Comparing to non-TT genotype patients, TT genotype patients had a significantly higher SVR rate with moderate viral reduction (1–3 logs₁₀ IU/mL) at week 4 (58.9% vs. 18.2%, P < 0.001), and the SVR rate did not differ between TT/non-TT patients on the extreme ends (<1 or >3 log₁₀ IU/mL reduction) of week 4 interferon responsiveness. For non-TT genotype carriers who were with <3 logs₁₀ reduction, none (0/15) could have a complete early virological response and only 10.9% (7/64) of the patients had an SVR.ConclusionsMore profound interferon responsiveness is mandatory for HCV-1 patients with unfavorable IL-28B genotype.     

Randomized study of the effect of video education on heart failure healthcare utilization,symptoms, and self-care behaviors

ObjectiveAdherence to self-care behaviors improves heart failure (HF) morbidity and life quality. We examined short-term impact of video education (VE) in addition to standard education (SE) on HF healthcare utilization and self-care behavior adherence.MethodsOne hundred and twelve hospitalized patients were randomly assigned to SE (n = 53) or SE plus VE (n = 59). Differences between groups were analyzed in patients who underwent 3-month follow-up (39 SE and 37 VE patients). Mean age was 60 ± 14 years; mean HF length was 57 months.ResultsThree-month healthcare utilization was similar between groups but VE patients needed less extra diuretic dosing (P < 0.02), received more HF literature (P < 0.03), and had less healthcare team telephone communication (P < 0.04). VE patients had greater sign/symptom reduction (P < 0.04); especially related to edema (P < 0.01) and fatigue (P < 0.01) and initiated more actions for edema (P < 0.05) and dyspnea (with exercise or rest, both P < 0.01). Overall, VE patients had a higher mean self-care behavior score (P < 0.01), reflecting greater self-care adherence.ConclusionVideo education prompts self-care behavior adherence to control worsening signs/symptoms of volume overload. During 3-month follow-up, utilization of most healthcare resources was unchanged.Practice implicationsVE is a useful adjunct to in-person education.     

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease

PurposeAlthough Fabry disease is X linked and considered to affect primarily male hemizygotes, female heterozygotes may experience all the signs and symptoms of this metabolic disorder. This prospective, single-center, open-label, clinical trial was performed to evaluate the long-term response of female patients with Fabry disease to enzyme replacement therapy.MethodsSymptomatic women (average age = 47 years) enrolled in this 4-year study were treated with agalsidase alfa (Replagal®, Shire HGT, Inc.) at a dose of 0.2 mg/kg, every other week for 4 years (N = 36). Clinical and biochemical assessments were conducted at 12-month intervals.ResultsThe Mainz Severity Score Index, a measure of total disease burden, was significantly reduced after 12 months (P < 0.01) of treatment and continuously improved over 4 years. Brief Pain Inventory “pain at its worst” score was reduced from 4.6 ± 2.9 at baseline to 3.3 ± 2.9 after 12 months (P = 0.001) and remained reduced through 4 years. Mean left-ventricular mass decreased from 89.4 ± 29.3 g/m^2.7 at baseline to 66.5 ± 29.3 g/m^2.7 after 12 months (P < 0.001) and remained reduced through 4 years. Average kidney function (estimated glomerular filtration rate and proteinuria) remained constant during the study. No safety issues were identified.ConclusionsLong-term agalsidase alfa is effective and was well tolerated in women with Fabry disease.     

Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey

PurposeTo use the Hunter Outcome Survey, an international database, to assess the safety and effectiveness of enzyme replacement therapy with idursulfase in patients with Hunter syndrome who started treatment before 6 years of age.MethodsThe study population included all patients enrolled in the Hunter Outcome Survey who started idursulfase infusions (0.5 mg/kg every other week) before 6 years of age and who had at least one follow-up examination recorded.ResultsThe study population included 124 patients, younger than 6 years, who had a mean age at start of idursulfase of 3.6 ± 1.6 years (mean ± SD). The mean duration of treatment was 22.9 ± 14.6 months. A total of 69 infusion-related reactions occurred in 33 (26.6%) patients, including three serious infusion-related reactions occurring in a single patient. After at least 6 months of idursulfase, urine glycosaminoglycan levels decreased from 592 ± 188 to 218 ± 115 μg/mg creatinine (P < 0.0001, n = 34). Liver size, estimated by palpation, was also significantly decreased (P = 0.005, n = 23). Similar safety and effectiveness results were seen in patients who were aged 6 years or older when initiating idursulfase.Conclusion: No new safety concerns were identified in patients younger than 6 years, and clinical benefit was suggested by the reduction in liver size. Genet Med 2011:13(2):102–109.     

EphA2 knockdown attenuates atherosclerotic lesion development in ApoE−/− mice

BackgroundThe inflammatory response of vascular endothelial cells plays important roles in the initiation and progression of atherosclerotic lesions. EphA2 receptor activation promotes the endothelial cell inflammatory response, and its expression is increased in the endothelial cell layer of atherosclerotic plaques. However, the association between EphA2 and atherosclerosis has not been determined.MethodsEight-week-old male ApoE^−/− mice were systemically infected with adenoassociated virus serotype 9 carrying a small hairpin RNA specifically targeting the EphA2 gene to knock down EphA2 expression in aortic endothelial cells. These mice were then fed a high-cholesterol diet for 12 weeks. Blood was collected for the measurement of plasma lipids. The aortas were harvested to evaluate the atherosclerotic lesion size, macrophage components, and expression of proinflammatory genes using Oil Red O staining, immunofluorescence staining, and molecular biology analysis.ResultsThe lesions formed in the entire aorta and aortic sinus of the ApoE^−/− mice with EphA2 knockdown were significantly smaller than those in the control mice (10.7% ± 3.1% versus 25.1% ± 4.2%; 0.51 ± 0.02 mm² versus 0.85 ± 0.03 mm²; n = 10; P < .05). Furthermore, the lesions in the ApoE^−/− mice with EphA2 knockdown displayed reduced inflammation compared with the control mice, as reflected by the decreased macrophage infiltration (8.2% ± 2.9% versus 22.7% ± 4%; n = 10; P < .05); decreased nuclear factor-κβ activation; and diminished expression of vascular cell adhesion molecule-1, E-selectin, and monocyte chemotactic protein-1 (all P < .05).ConclusionsOur data demonstrate that the EphA2 receptor silencing attenuates the extent and inflammation of atherosclerotic lesions in ApoE^−/− mice. Thus, EphA2 knockdown in endothelial cells represents a novel therapeutic strategy for patients with atherosclerosis.     

Patient knowledge and information-seeking about personalized cancer therapy

BackgroundUnderstanding patients’ knowledge and prior information-seeking regarding personalized cancer therapy (PCT) may inform future patient information systems, consent for molecular testing and PCT protocols. We evaluated breast cancer patients’ knowledge and information-seeking behaviors regarding PCT.MethodsNewly registered female breast cancer patients (n = 100) at a comprehensive cancer center completed a self-administered questionnaire prior to their first clinic visit.ResultsKnowledge regarding cancer genetics and PCT was moderate (mean 8.7 ± 3.8 questions correct out of 16). A minority of patients (27%) indicated that they had sought information regarding PCT. Higher education (p = 0.009) and income levels (p = 0.04) were associated with higher knowledge scores and with seeking PCT information (p = 0.04). Knowledge was not associated with willingness to participate in PCT research.ConclusionEducational background and financial status impact patient knowledge as well as information-seeking behavior. For most patients, clinicians are likely to be patients’ initial source of information about PCT. Understanding patients’ knowledge deficits at presentation may help inform patient education efforts.     

The impact of a closed-loop electronic blood transfusion system on transfusion errors and staff time in a children's hospital

ObjectivesTo assess the impact of a closed-loop electronic blood transfusion system on transfusion errors and staff time.Materials and methodsBefore and after study in all wards of a children's hospital, involving patients and staff of all the wards. The changes were closed-loop electronic blood transfusion, barcode patient identification, electronic blood transfusion administration records and error pop-up warning. The main outcome measures were percentage of blood transfusion errors, time spent on transfusion tasks.ResultsTransfusion errors were identified in 3.87% of 2556 blood transfusion orders pre-intervention and 0.78% of 2577 orders afterwards (P < 0.01). Phlebotomists, nurses, and physicians may make mistakes, including wrong blood type when apply for blood, wrong patient when blood draw or transfusion, wrong dose when apply for blood and the wrong tube label when blood draw or cross-matching, which are significantly reduced after change (1.09% vs 0.31%, 1.13% vs 0%, 0.31% vs 0%, 1.33% vs.0.78%, P < 0.01). Time spent on blood apply was 5.3 ± 1.2 min, hand over blood bag at the transfusion department was 14.9 ± 1.4 min and blood transfusion was 15.8 ± 2.4 min. Time per transfusion round decreased to 2.6 ± 1.0 min, 6.3 ± 1.6 min and 9.3 ± 2.2 min respectively (P < 0.01).ConclusionsA closed-loop electronic blood transfusion, barcode patient identification and error pop-up warning reduced transfusion errors, and increased confirmation of patient and blood types identity before transfusion. Time spent on blood transfusion tasks reduced.     

Coronary calcification in adults with Turner syndrome

PurposeAdults with Turner syndrome (TS) have an increased predisposition to ischemic heart disease. The quantitative relationship between coronary atherosclerosis and TS has yet to be established.MethodsA total of 128 females (62 with TS) participated in this prospective study. Coronary computed tomography angiography was performed to measure coronary calcified plaque burden, and prevalent noncalcified plaque burden. Regression analysis was used to study the effects of TS and traditional cardiovascular disease risk factors on coronary plaque burden.ResultsAdults with TS were 63% more likely to have coronary calcifications than controls (odds ratio 1.63, 95% confidence interval: 1.02, 2.61, P = 0.04), with an age cutoff of 51.7 years for a probability of >50% for the presence of coronary calcifications, when compared to 55.7 years in female controls. The average age of TS patients with calcified plaques was significantly lower than that of controls with calcified plaques (51.5 ± 8.9 years vs. 60.5 ± 7.0 years, P < 0.001). Age increased the likelihood of coronary calcifications by 13% per year (odds ratio 1.13, confidence interval 95%: 1.07–1.19, P < 0.001).ConclusionThis study demonstrates a higher prevalence and earlier onset of calcified coronary plaques in TS. These findings have important implications for cardiovascular risk assessment and the management of patients with TS.     

The prognosis of highly active antiretroviral therapy (HAART) treated HIV infected patients in Serbia,related to the time of treatment initiation

BackgroundWith the introduction of highly active antiretroviral treatment (HAART) an impressive improvement in patient survival and quality of life has bee observed. However, the optimal timing of initial HAART is still under consideration.ObjectiveTo investigate the prognosis of HAART treated patients in Serbia, related to the timing of HAART initiation.Study designA series of 563 patients on HAART was retrospectively analyzed to investigate treatment response and survival.ResultsAfter a mean of 6 years (range 1–14) of treatment with PI-based and/or NNRTI-based regimens, a favorable response was achieved in 72.4%, treatment failure occurred in 7.9%, while 19.7% had a dissociative immunological/virological response. If treatment was initiated during primary HIV infection it took a shorter time to achieve a favorable response than in patients who began HAART in chronic HIV infection (2.7 ± 2.2 years vs. 6.9 ± 2.7 years, P < 0.01). A higher proportion of patients with primary HIV infection then those treated in the chronic phase achieved a favorable response to HAART (88.4% vs. 71.9%, P = 0.045). Patients who initiated HAART when their CD4 cell counts were below 200 cells/μL needed longer treatment for favorable response (8 years vs. 6 years, log rank P < 0.01). Forty-seven (8.3%) patients died. The overall estimated survival was 13 years. Patients older then 40 and IVDU were more likely to die during HAART (OR 2.6, 95% CI 1.1–5.9, P = 0.016, and OR 2.0, 95% CI 1.0–3.7, P = 0.02, respectively). However, reaching and maintaining undetectable viremia was an independent predictor of longer survival (OR 11.3, 95% CI 4.6–27.7, P < 0.01).ConclusionReaching and maintaining undetectable viremia during HAART predicted longer survival, even if sub-clinical immunodeficiency remained.     

Sonographic evaluation of endothelial function in letrozole and tamoxifen users

ObjectivesStudies have shown that women previously treated for breast cancer present fewer cardiovascular events, indicating a possible protective effect of tamoxifen treatment. The effects of these aromatase inhibitors on cardiovascular protection remain controversial. The aim of this study was to compare some cardiovascular risk markers among breast cancer survivors following treatment with tamoxifen group (TMXg), letrozole group (LTZg) or no endocrine treatment group (NETg).MethodsA total of 103 breast cancer survivors: 35 using TMXg, 34 using letrozole group (LTZg) and 34 using no endocrine treatment group (NETg) were evaluated. Ultrasonographic evaluation of brachial artery flow-mediated dilation (FMD), carotid intima–media thickness (IMT) and stiffness index (β); blood total cholesterol, HDL and triglycerides were assessed.ResultsAll three groups presented similar values of HDL and IMT. TMXg showed the lowest total cholesterol (219.29 ± 36.31 mg/dL vs. 250.59 ± 38.37 mg/dL vs. 245.09 ± 35.35 mg/dL; TMXg vs. LTZg vs. NETg, respectively; p < 0.01—ANOVA), the highest triglycerides (139.34 ± 41.82 mg/dL vs. 111.35 ± 28.22 mg/dL vs. 122.09 ± 33.42 mg/dL; p < 0.01), the highest FMD (6.32 ± 2.33% vs. 4.10 ± 2.06% vs. 4.66 ± 2.52%; p < 0.01) and the lowest stiffness index (β) (5.08 ± 1.68 vs. 6.28 ± 1.75 vs. 5.99 ± 1.86; p = 0.01). LTZg did not differ significantly from NETg on any evaluated parameter.ConclusionsWe did not observe any effect of LTZg on the evaluated cardiovascular risk parameters compared to NETg. As such, the observed difference on lipid values, stiffness index (β) and FMD between women receiving tamoxifen and letrozole might be best attributed to the beneficial effect of tamoxifen than to a detrimental effect of letrozole.