Classic and molecular cytogenetic findings in leukemia patients from the Western part of Romania.

Acute lymphoblastic leukemia (ALL) is the most common type of leukemia in childhood and rare in adults, while acute myeloid leukemia (AML) is less common in children and more common in older adults. The aim of the study was to present our experience for the diagnostic of leukemia by using the classic and molecular cytogenetic methods. The study was conducted between 2009 and 2019 within the Classic and Molecular Genetic Laboratory of the Oncohematology Department from the Louis Turcanu Emergency Hospital for Children, Timisoara, Romania. The study group included 337 children and adults, evaluated between 2009 and 2019. By using the conventional and molecular cytogenetic technique, the cytogenetic anomalies found were 35 numerical chromosomal abnormalities, 10 (9;22)(q34;q11) [four ALL, one AML, five chronic myeloid leukemia (CML)] translocations, nine (15;17)(q24;q21) translocations, three (14;14)(q11;q32) translocations, two (4;11)(q21;q23) translocations, one (1;14)(p32;q11) translocation, one (7;14)(qter;q11) translocation, one (8;21)(q22;q22) translocation, one (9;14)(p12;q32) translocation, seven rearrangements of the MLL gene and two rearrangements of the core-binding factor subunit beta∕myosin heavy chain 11 (CBFB∕MYH11) gene. The use of conventional and molecular cytogenetic analysis is one of the most important prognostic indicators in acute leukemia patients, allowing the identification of biologically distinct subtypes of disease and selection of appropriate treatment approaches.

Educational readiness among health professionals in rheumatology: low awareness of EULAR offerings and unfamiliarity with the course content as major barriers-results of a EULAR-funded European survey.

BACKGROUND: Ongoing education of health professionals in rheumatology (HPR) is critical for high-quality care. An essential factor is education readiness and a high quality of educational offerings. We explored which factors contributed to education readiness and investigated currently offered postgraduate education, including the European Alliance of Associations for Rheumatology (EULAR) offerings. METHODS AND PARTICIPANTS: We developed an online questionnaire, translated it into 24 languages and distributed it in 30 European countries. We used natural language processing and the Latent Dirichlet Allocation to analyse the qualitative experiences of the participants as well as descriptive statistics and multiple logistic regression to determine factors influencing postgraduate educational readiness. Reporting followed the Checklist for Reporting Results of Internet E-Surveys guideline. RESULTS: The questionnaire was accessed 3589 times, and 667 complete responses from 34 European countries were recorded. The highest educational needs were 'professional development', 'prevention and lifestyle intervention'. Older age, more working experience in rheumatology and higher education levels were positively associated with higher postgraduate educational readiness. While more than half of the HPR were familiar with EULAR as an association and the respondents reported an increased interest in the content of the educational offerings, the courses and the annual congress were poorly attended due to a lack of awareness, comparatively high costs and language barriers. CONCLUSIONS: To promote the uptake of EULAR educational offerings, attention is needed to increase awareness among national organisations, offer accessible participation costs, and address language barriers.

Using Portable Ultrasound to Monitor the Neuromuscular Reactivity to Low-Frequency Electrical Stimulation.

Neuromuscular electrical stimulation (NMES) is useful for muscle strengthening and for motor restoration of stroke patients. Using a portable ultrasound instrument, we developed an M-mode imaging protocol to visualize contractions elicited by NMES in the quadriceps muscle group. To quantify muscle activation, we performed digital image processing based on the Teager-Kaiser energy operator. The proposed method was applied for 35 voluntary patients (18 women and 17 men), of 63.8 ± 14.1 years and body mass index (BMI) 30.2 ± 6.70 kg/m2 (mean ± standard deviation). Biphasic, rectangular electric pulses of 350 µs duration were applied at two frequencies (60 Hz and 120 Hz), and ultrasound was used to assess the sensory threshold (ST) and motor threshold (MT) amplitude of the NMES signal. The MT was 23.4 ± 4.94 mA, whereas the MT to ST ratio was 2.69 ± 0.57. Linear regression analysis revealed that MT correlates poorly with body mass index (R2 = 0.004) or with the thickness of the subcutaneous adipose tissue layer that covers the treated muscle (R2 = 0.013). Our work suggests that ultrasound is suitable to visualize neuromuscular reactivity during electrotherapy. The proposed method can be used in the clinic, enabling the physiotherapist to establish personalized treatment parameters.

Predicting functional disability in patients with spondyloarthritis using a CRP-based algorithm: A 3-year prospective study.

This prospective study explored the link between values of C-reactive protein (CRP) in patients with SpA (ankylosing spondylitis, psoriatic arthritis, reactive arthritis, or arthritis-related inflammatory bowel disease) and functional disability in order to derive an algorithm that may predict functional disability based on disease activity. Patients diagnosed with Spa were classified into five groups based on the type of therapy and they were followed up for 3 years. Group 1: Symptomatic medication alone; Group 2: Disease-modifying antirheumatic drugs (DMARDs); Group 3: DMARDs and 30 rehabilitation sessions twice a year; Group 4: Group 3 therapy and biologic anti-tumor necrosis factor-alpha (anti-TNF-α) drugs; and Group 5: Group 4 therapy and, in addition, a daily home-adapted kinesiotherapy program. CRP, modified Health Assessment Questionnaire (mHAQ-S), Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), and T-score of the patients were recorded. Correlation and multivariate regression analyses were conducted using demographic data, CRP, and mHAQ-S scores to derive the CRP-mHAQ-S correlation algorithm. Statistical analysis included the chi-square, Mann-Whitney, and multiple regression tests and repeated measures analysis of variance. A total of 144 patients were enrolled, all of whom completed the study. The best predictive model (P<0.001) provided the algorithm mHAQ-S36=17.14+0.12xCRP0-0.24xCRP12-0.15xCRP36 (CRP0, CRP12, and CRP36 correspond to CRP levels at baseline, 12, and 36 months, respectively, and mHAQ-S36 to mHAQ-S score at 36 months). This derived algorithm based on objective CRP assessment may have implications in the prediction of functional disability evolution in patients with SpA.

2020 EULAR points to consider for the prevention, screening, assessment and management of non-adherence to treatment in people with rheumatic and musculoskeletal diseases for use in clinical practice.

BACKGROUND: Non-adherence to treatment could preclude reaching an optimal outcome. Thirty to 80% of patients with rheumatic and musculoskeletal diseases (RMDs) do not adhere to the agreed treatment. OBJECTIVES: The objective was to establish points to consider (PtCs) for the prevention, screening, assessment and management of non-adherence to (non-)pharmacological treatments in people with RMDs. METHODS: An EULAR task force (TF) was established, and the EULAR standardised operating procedures for the development of PtCs were followed. The TF included healthcare providers (HCPs), comprising rheumatologists, nurses, pharmacists, psychologists, physiotherapists, occupational therapists and patient-representatives from 12 European countries. A review of systematic reviews was conducted in advance to support the TF in formulating the PtCs. The level of agreement among the TF was established by anonymous online voting. RESULTS: Four overarching principles and nine PtCs were formulated. The PtCs reflect the phases of action on non-adherence. HCPs should assess and discuss adherence with patients on a regular basis and support patients to treatment adherence. As adherence is an agreed behaviour, the treatment has to be tailored to the patients' needs. The level of agreement ranged from 9.5 to 9.9 out of 10. CONCLUSIONS: These PtCs can help HCPs to support people with RMDs to be more adherent to the agreed treatment plan. The basic scheme being prevent non-adherence by bonding with the patient and building trust, overcoming structural barriers, assessing in a blame-free environment and tailoring the solution to the problem.

2019 EULAR points to consider for non-physician health professionals to prevent and manage fragility fractures in adults 50 years or older.

OBJECTIVE: To establish European League Against Rheumatism (EULAR) points to consider for non-physician health professionals to prevent and manage fragility fractures in adults 50 years or older. METHODS: Points to consider were developed in accordance with EULAR standard operating procedures for EULAR-endorsed recommendations, led by an international multidisciplinary task force, including patient research partners and different health professionals from 10 European countries. Level of evidence and strength of recommendation were determined for each point to consider, and the mean level of agreement among the task force members was calculated. RESULTS: Two overarching principles and seven points to consider were formulated based on scientific evidence and the expert opinion of the task force. The two overarching principles focus on shared decisions between patients and non-physician health professionals and involvement of different non-physician health professionals in prevention and management of fragility fractures. Four points to consider relate to prevention: identification of patients at risk of fracture, fall risk evaluation, multicomponent interventions to prevent primary fracture and discouragement of smoking and overuse of alcohol. The remaining three focus on management of fragility fractures: exercise and nutritional interventions, the organisation and coordination of multidisciplinary services for post-fracture models of care and adherence to anti-osteoporosis medicines. The mean level of agreement among the task force for the overarching principles and the points to consider ranged between 8.4 and 9.6. CONCLUSION: These first EULAR points to consider for non-physician health professionals to prevent and manage fragility fractures in adults 50 years or older serve to guide healthcare practice and education.

Intravenous iron infusion as an alternative to minimize blood transfusion in peri-operative patients.

Despite the reported benefits of intravenous iron therapy (IVIT) for correcting iron deficiency anemia (IDA) before any major surgery and the evidence thereof, perioperative allogenic blood transfusion (ABT) practice is still considered as the only viable option by some clinicians worldwide. As ABT increases the likelihood of infections, cardiac complications, longer hospital stays and mortality among the patients, the practice of ABT should only be reserved for critical cases (Hb level < 7 g/dl). Timely iron studies and iron replenishment (oral/IV) of prospective surgical patients could help decrease the ABT practice, and prove beneficial from both the clinical and economic standpoint. Evidence based patient blood management guidelines should be developed and standardized for use by clinicians worldwide. These guidelines should include specific instructions on timely assessment of surgical patients for correction of their IDA by either oral iron supplementation, if time permits, or by using IVIT such as ferric carboxymaltose (FCM) in emergency surgeries and in patients with functional ID. This study was conducted to explore the clinical benefits of the timely administration of IV-FCM in iron-deficient preoperative patients during 2017-2018 and compare the results thereof with that of the ABT. Based on the IDA treatment plan of 2953 patients, 11.14% cases were administered IV FCM (Group 1), 11.58% cases received ABT (Group 2), while the remaining 77.27% of anemic cases received neither ABT nor IV FCM (Group 3). The results indicate that the IV FCM administration reduces the need for ABT and thus minimizes its associated side effects. The findings of our study concur with the favorable outcomes reported by the other similar studies.

Association between arterial stiffness, disease activity and functional impairment in ankylosing spondylitis patients: a cross-sectional study.

Cardiovascular risk is an important factor for increased morbidity and mortality in patients with ankylosing spondylitis. The aim of this study is to assess arterial stiffness in relation to the disease activity and functional limitation in patients with ankylosing spondylitis. Twenty-four patients (mean age 45.8 ± 11.7 years) suffering of ankylosing spondylitis (disease duration 11.1 ± 5.1 years) and 24 gender and age-matched healthy controls were included in the study. Clinical, biological, and functional status of ankylosing spondylitis patients was recorded. Arterial stiffness was assessed by measuring pulse wave velocity (PWV) and pulse wave analysis (PWA) was performed using applanation tonometry. We found significant differences between ankylosing spondylitis patients and healthy controls in regard to PWV (p = 0.047), aortic augmentation pressure-AP (p = 0.028), augmentation index-AIx (p = 0.038) and aortic augmentation index adjusted for heart rate-AIx75 (p = 0.011). PWV and AIx75 were significantly associated with the disease functioning score-BASFI (p = 0.012, r = 0.504; p = 0.041, r = 0.421). Aortic AP and augmentation indexes (AIx and AIx75) were all associated to ASDAS score (p = 0.028, r = 0.448; p = 0.005, r = 0.549; p = 0.025, r = 0.455). Our study showed that ankylosing spondylitis patients have a higher arterial stiffness than the age-matched controls, leading to an increased cardiovascular risk. We found that arterial stiffness is positively associated with disease activity and functional impairment. Chronic spondiloarthropaties should be screened for arterial stiffness, even in the absence of traditional cardiovascular risk factors, in order to benefit from primary prevention measures.

Inspiratory muscle training improves aerobic capacity and pulmonary function in patients with ankylosing spondylitis: a randomized controlled study.

OBJECTIVE: To evaluate the impact of inspiratory muscle training on aerobic capacity and pulmonary function in patients with ankylosing spondylitis. DESIGN: Randomized controlled study. SETTING: Rheumatic Rehabilitation Centre. SUBJECTS: A total of 54 ankylosing spondylitis patients, all males, were randomized to a conventional exercise training associated with an inspiratory muscle training group, or to a conventional exercise training group. INTERVENTIONS: Group 1 (27 patients) performed eight weeks of conventional exercise training (supervised weekly group sessions followed by a home-based exercise programme) associated with inspiratory muscle training sessions. Group 2 (27 patients) received eight weeks of conventional exercise training only. MAIN MEASURES: Resting pulmonary function (forced vital capacity - FVC, forced expiratory volume in one second - FEV1); effort ventilatory efficiency (lowest ventilatory equivalent ratio for oxygen and carbon dioxide - VE/VO2 and VE/VCO2) and aerobic capacity (peak oxygen uptake - VO2peak) were assessed at baseline and after eight weeks of exercise-based intervention. RESULTS: After eight weeks follow-up, patients in Group 1 had a significant increased chest expansion and VO2peak compared with Group 2 (3.6 ±0.8 cm vs. 3.2 ±0.5 cm, P = 0.032; 2.0 ±0.5 l/min vs. 1.8 ±0.3 l/min, P = 0.033). There were no significant differences of spirometric measurements, except FVC which significantly improved in patients who performed inspiratory muscle training (82.7 ±5.1% vs. 79.5 ±3.5%, P = 0.014). VE/VCO2 also improved significantly in Group 1 (26.6 ±3.6 vs. 29.2 ±4.7, P = 0.040). CONCLUSIONS: Ankylosing spondylitis patients who performed eight weeks of inspiratory muscle training associated to conventional exercise training had an increased chest expansion, a better aerobic capacity, resting pulmonary function and ventilatory efficiency than those who performed conventional exercise training only.

Do patient-reported outcome measures cover personal factors important to people with rheumatoid arthritis? A mixed methods design using the International Classification of Functioning, Disability and Health as frame of reference.

BACKGROUND: Personal factors (PFs) are internal factors that determine functioning and the individuals' experience of disability. Their coverage by patient-reported outcome measures (PROMs) has not been examined in rheumatoid arthritis (RA) so far. The aims of this study were to identify PFs important in the life stories of people with RA and to determine their coverage by PROMs used in RA. METHODS: The qualitative data of people with RA was explored to identify PFs. Additionally a systematic literature search was conducted to find PROMs used in RA. PROMs items were linked to the components, domains and categories of the International Classification of Functioning, Disability and Health (ICF) to determine the coverage of important PFs by PROMs. RESULTS: Twelve PFs were found to be important in the life stories of people with RA. The PFs coping and reflecting about one's life in an optimistic way were covered most frequently, each by 14 of the 42 explored PROMs, while job satisfaction was not covered at all. The London Coping with Rheumatoid Arthritis Questionnaire, General Self-Efficacy Scale, Arthritis Self-Efficacy Scale, Rheumatoid Arthritis Self-Efficacy Questionnaire and Revised Ways of Coping Inventory covered most PFs. Nineteen PROMs did not cover any of the PFs. CONCLUSION: Several PFs were identified as important in the life stories of people with RA, but only 55% of the PROMS covered some of these PFs. When evaluating PFs important to people with RA, health professionals should be alert on which PROMs can be used to assess which PFs.