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We present a patient with an aortic aneurysm and the epidemiology, etiology, screening, symptoms and therapeutic options of abdominal aortic aneurysms are discussed. A widening of the abdominal aorta >3 cm is termed aortic aneurysm. As patients with aortic aneurysm are mostly oligosymptomatic until rupture occurs and an estimated 30'000 patients annually die from ruptured aortic aneurysm in the US a screening of the population at greatest risk (smokers, familial predisposition) is recommended. Screening is best done by ultrasound. Noninvasive therapy is limited to antiplatelet therapy and optimal adjustment of risk factors. For definitive treatment endovascular aortic repair (EVAR) is considered an established alternative to open surgery with lower 30 daysmortality but higher reintervention rate. [ABSTRACT FROM AUTHOR]

Travel-related venous thromboembolism( VTE) is probably less frequent than previously suspected and becomes relevant when a flight lasts eight hours or more. Usually, general measures such as avoiding constrictive clothing or dehydration and doing gymnastics and walking around in the cabin are sufficient for preventing VTE. Compression stockings can be recommended when risk factors for VTE are present. Low molecular weight heparins in prophylactic dosage should be considered after previous VTE. [ABSTRACT FROM AUTHOR]

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The article discusses a case study of a 24-year-old Caucasian woman with a history of painful lesions on the fingertips and subungual haemorrhages. The diagnosis of secondary antiphospholipid syndrome (APS) was made after the patient underwent several diagnostic procedures such as capillary microscopy of the nail and dilute Russell viper venom time (DRVVT) screening and confirmation test. The researchers based their diagnosis on a systemic lupus erythematosus (SLE) predisposition.

Very limited evidence is available on the long-term health-related quality of life (HRQoL) of patients with acute promyelocytic leukemia (APL) treated with arsenic trioxide (ATO). We performed an extended follow-up of the APL0406 randomized controlled trial to investigate HRQoL of patients treated with either ATO or chemotherapy. A secondary objective was to describe the prevalence of clinically important problems and symptoms of these patients by type of treatment. Overall, 117 patients were included in this analysis after a median follow-up of 10 years (IQR 8-11) since diagnosis. Of these, 60 (51.3%) were treated with ATO, and 57 (48.7%) with chemotherapy. A statistically significant and clinically relevant difference, favoring patients treated with ATO, was found in 2 of the 3 main prespecified EORTC QLQ-C30 scales, that is, cognitive functioning (∆ = 7.7; 95% CI 0.5 to 14.9; p = 0.036) and fatigue (∆ = -9.4; 95% CI -17.9 to -0.8; p = 0.031). The prevalence of clinically important problems and symptoms tended to be slightly higher in patients treated with chemotherapy. These findings suggest that previously observed HRQoL advantages of ATO therapy of patients included in the APL0406 trial are sustained over the long-term period. This study was registered at ClinicalTrials.gov (NCT03096496)., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Immune thrombotic thrombocytopenic purpura (iTTP) is a rare and potentially life-threatening disorder. Treatment advances have lowered morbidity rates, but past acute events can still cause long-term consequences, reducing health-related quality of life (HRQoL) and determining cognitive impairment, anxiety, and depression. We aimed to investigate these aspects and the role of caplacizumab and rituximab: 39 patients were evaluated using the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36), the FACIT-Fatigue, the Hospital Anxiety and Depression Scale, and the Functional Assessment in Cancer Therapy-Cognitive Function questionnaires. The median age at study inclusion was 50 years (IQR 38-60), and the median follow-up from diagnosis was 97 months (IQR 14-182); 82% of patients were female, and 36% had one or more recurrences. Caplacizumab was administered in 16 patients (41%), as well as rituximab. ITTP patients reported lower physical and mental HRQoL scores than the general population. No differences in physical or mental domains were observed between patients treated or not with caplacizumab, while those who received rituximab reported lower scores in mental health. Neurological impairment at diagnosis correlated with worse fatigue. The majority of patients (72%) reported anxiety or depression (82%). ITTP had a significant impact on the long-term cognitive function, fatigue, depression, and anxiety levels of patients, with a negative effect on their HRQoL. Our findings underscore the need to pay special attention to patients' long-term physical and mental health, regardless of the medical treatments received., (© 2024. The Author(s).)

Objectives: We aimed to investigate the association between financial toxicity (FT) and the health-related quality of life profile of long-term survivors of acute promyelocytic leukaemia (APL) treated within a universal healthcare system., Methods: We evaluated FT using the financial difficulties item of the European Organisation for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 (EORTC QLQ-C30). We also compared the prevalence of clinically important problems and symptoms between the survivors of APL with or without FT, using evidence-based thresholds for the EORTC QLQ-C30. A multivariable logistic regression analysis was performed to explore potential risk factors associated with FT., Results: Overall, 352 long-term survivors of APL, with a median age of 53.9 years and a median time since diagnosis of 12.2 years, were analysed. Of these, 71 (20.2%) reported having FT. The prevalence of clinically important problems and symptoms was generally higher across most EORTC QLQ-C30 scales for those survivors who reported FT. The three largest differences between patients with and without FT were observed for emotional functioning (+35.4 percentage points), dyspnoea (+33.1 percentage points) and physical functioning (+27.0 percentage points). The presence of FT was independently associated with having comorbidities and not receiving a salary/pension., Conclusions: These findings suggest that even many years after being diagnosed, one-fifth of long-term survivors of APL experience FT. Interventions to assist with employment may be critical to minimise the risk of FT in the most vulnerable survivors., Competing Interests: Competing interests: AV: research funding from Jazz Pharmaceuticals; consultancy for Amgen, Servier, AstraZeneca, Pfizer, Kyte-Gilead, Abbvie, Janssen, Astellas, Astex, Otzuka, Stemline Menarini, BMS, Glycostem, Novartis and Delbert; all outside the submitted work. MV: Honoraria from Amgen, Incyte, Novartis, Dephaforum Srl, Abbvie and Astrazeneca; advisory board for Amgen; all outside the submitted work. FE: consultancy or advisory role for AbbVie, Incyte, Syros, Novartis and JAZZ Pharmaceuticals; all outside the submitted work., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Somatic hypermutation status of the IGHV gene is essential for treating patients with chronic lymphocytic leukemia/small lymphocytic lymphoma. Unlike the conventional low-throughput method, assessment of somatic hypermutation by next-generation sequencing (NGS) has potential for uniformity and scalability. However, it lacks standardization or guidelines for routine clinical use. We critically assessed the performance of an amplicon-based NGS assay across 458 samples. Using a validation cohort (35 samples), the comparison of two platforms (Ion Torrent versus Illumina) and two primer sets [leader versus framework region 1 (FR1)] in their ability to identify clonotypic IGHV rearrangement(s) revealed 97% concordance. The mutation rates were identical by both platforms when using the same primer set (FR1), whereas a slight overestimation bias (+0.326%) was found when comparing FR1 with leader primers. However, for nearly all patients this did not affect the stratification into mutated or unmutated categories, suggesting that use of FR1 may provide comparable results if leader sequencing is not available and allowing for a simpler NGS laboratory workflow. In routine clinical practice (423 samples), the productive rearrangement was successfully detected by either primer set (leader, 97.7%; FR1, 94.7%), and a combination of both in problematic cases reduced the failure rate to 1.2%. Higher sensitivity of the NGS-based analysis also detected a higher frequency of double IGHV rearrangements (19.1%) compared with traditional approaches., (Copyright © 2023 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)

Objective. Muscle activation patterns in the muscle-to-force null space, i.e. patterns that do not generate task-relevant forces, may provide an opportunity for motor augmentation by allowing to control additional end-effectors simultaneously to natural limbs. Here we tested the feasibility of muscular null space control for augmentation by assessing simultaneous control of natural and extra degrees of freedom. Approach. We instructed eight participants to control translation and rotation of a virtual 3D end-effector by simultaneous generation of isometric force at the hand and null space activity extracted in real-time from the electromyographic signals recorded from 15 shoulder and arm muscles. First, we identified the null space components that each participant could control more naturally by voluntary co-contraction. Then, participants performed several blocks of a reaching and holding task. They displaced an ellipsoidal cursor to reach one of nine targets by generating force, and simultaneously rotated the cursor to match the target orientation by activating null space components. We developed an information-theoretic metric, an index of difficulty defined as the sum of a spatial and a temporal term, to assess individual null space control ability for both reaching and holding. Main results. On average, participants could reach the targets in most trials already in the first block (72%) and they improved with practice (maximum 93%) but holding performance remained lower (maximum 43%). As there was a high inter-individual variability in performance, we performed a simulation with different spatial and temporal task conditions to estimate those for which each individual participants would have performed best. Significance. Muscular null space control is feasible and may be used to control additional virtual or robotics end-effectors. However, decoding of motor commands must be optimized according to individual null space control ability., (© 2022 IOP Publishing Ltd.)