Relationship between the 46/1 haplotype of the JAK2 gene and the JAK2 mutational status and allele burden,the initial findings,and the survival of patients with myelofibrosis

An association has been reported between a specific haplotype of the JAK2 gene, the homozygous 46/1 haplotype, and a predisposition to the development of chromosome Philadelphia-negative myeloproliferative neoplasms. Concerning myelofibrosis (MF), controversy remains on the relationship between the above JAK2 haplotype and the patients’ clinicohematological features and survival. Among 132 patients with MF (60 % primary MF, 20 % postpolycythemia vera MF, 20 % post-essential thrombocythemia MF; 59 % JAK2V617F positive) who were analyzed for the JAK2 46/1 haplotype, 29 were found to be homozygous and 53 heterozygous. The homozygous 46/1 haplotype was more often observed in JAK2V617F-positive patients (29.5 versus 11 %, p?=?0.012). Moreover, among JAK2V617F-positive patients, those who were homozygous for the 46/1 haplotype had a higher allele burden than the remainder (92 versus 48 %, p?=?0.0017). Overall, patients with homozygous 46/1 haplotype showed significantly higher hemoglobin values and higher leukocyte counts, but no association was seen with other clinicohematological features. Finally, no relationship was observed between the JAK2 46/1 haplotype and either the patients’ prognostic score or survival.     

Clinical Classification and Prognosis of Isolated Right-Sided Infective Endocarditis

From an epidemiologic point of view, right-sided infective endocarditis (RSIE) affects different types of patients: intravenous drug users (IDUs), cardiac device carriers (pacemakers and implantable automatic defibrillators), and the “3 noes” endocarditis group: no left-sided, no IDUs, no cardiac devices. Our objective is to describe and compare the clinical profile and outcome of these groups of patients.Every episode of infective endocarditis (IE) consecutively diagnosed in 3 tertiary centers from 1996 to 2012 was included in an ongoing multipurpose database. We assessed 85 epidemiologic, clinical, echocardiographic, and outcome variables in patients with isolated RSIE. A bivariated comparative analysis between the 3 groups was conducted.Among 866 IE episodes, 121 were classified as isolated RSIE (14%): 36 IDUs (30%), 65 cardiac device carriers (54%), and 20 “3 noes” group (16%). IDUs were mainly young men (36 ± 7 years) without previous heart disease, few comorbidities, and frequent previous endocarditis episodes (28%). Human immunodeficiency virus infection was frequent (69%). Cardiac device carriers were older (66 ± 15 years) and had less comorbidities (34%). Removal of the infected device was performed in 91% of the patients without any death. The “3 noes” endocarditis group was composed mainly by middle-age men (56 ± 18 years), health care related infections (50%), and had many comorbidities (75%). Whereas Staphylococcus aureus were the most frequent cause in IDUs (72% vs 34% in device carriers and 34% in the “3 noes” group, P = 0.001), coagulase negative Staphylococci predominated in the device carriers (58% vs 11% in drug users and 35% in the “3 noes”, P < 0.001). Significant differences in mortality were found (17% in drug users, 3% in device carriers, and 30% in the “3 noes” group; P < 0.001).These results suggest that RSIE should be separated into 3 groups (IDUs, cardiac device carriers, and the “3 noes”) and considered as independent entities as there are relevant epidemiologic, clinical, microbiological, echocardiographic, and prognostic differences among them.     

Combined evaluation of regional coronary artery calcium and myocardial perfusion by 82Rb PET/CT in predicting lesion-related outcome

European Journal of Nuclear Medicine and Molecular Imaging - Cardiac imaging with positron emission tomography/computed tomography (PET/CT) allows measurement of coronary artery calcium (CAC),...     

Second cancers in MPN: Survival analysis from an international study

One out of ten patients with Philadelphia-negative myeloproliferative neoplasms (MPN) develop a second cancer (SC): in such patients we aimed at assessing the survival impact of SC itself and of MPN-specific therapies. Data were therefore extracted from an international nested case-control study, recruiting 798 patients with SC diagnosed concurrently or after the MPN. Overall, 2995 person-years (PYs) were accumulated and mortality rate (MR) since SC diagnosis was 5.9 (5.1-6.9) deaths for every 100 PYs. A “poor prognosis” SC (stomach, esophagus, liver, pancreas, lung, ovary, head-and-neck or nervous system, osteosarcomas, multiple myeloma, aggressive lymphoma, acute leukemia) was reported in 26.3% of the patients and was the cause of death in 65% of them (MR 11.0/100 PYs). In contrast, patients with a “non-poor prognosis” SC (NPPSC) incurred a MR of 4.6/100 PYs: 31% of the deaths were attributed to SC and 15% to MPN evolution. At multivariable analysis, death after SC diagnosis was independently predicted (HR and 95% CI) by patient age greater than 70 years (2.68; 1.88-3.81), the SC prognostic group (2.57; 1.86-3.55), SC relapse (1.53; 10.6-2.21), MPN evolution (2.72; 1.84-4.02), anemia at SC diagnosis (2.32; 1.49-3.59), exposure to hydroxyurea (1.89; 1.26-2.85) and to ruxolitinib (3.63; 1.97-6.71). Aspirin was protective for patients with a NPPSC (0.60; 0.38-0.95). In conclusion, SC is a relevant cause of death competing with MPN evolution. Prospective data are awaited to confirm the role of cytoreductive and anti-platelet drugs in modulating patient survival after the occurrence of a SC.     

Multimodality imaging in COVID-19 patients: A key role from diagnosis to prognosis

The integrated clinical, laboratory and ultrasound approach is essential for the diagnosis, evaluation and monitoring of the patient's therapy in coronavirus disease 2019 pneumonia. The ideal imaging approach in this context is not yet well defined. Chest X-ray is characterized by low sensitivity in identifying earlier lung changes. The "bedside" pulmonary ultrasound has an undeniable series of advantages in the patient at high infectious risk and can provide incremental data in the respiratory intensive care for the serial control of the individual patient as well as for the home delivery of the stabilized subjects. Pulmonary computed tomography shows high sensitivity but should not be routinely performed in all patients, because in the first 48 h it can be absolutely negative and in the late phase the imaging findings may not change the therapeutic approach. Echocardiography should be limited to patients with hemodynamic instability to assess ventricular function and pulmonary pressures.     

Incidence and consequences of systemic arterial thrombotic events in COVID-19 patients

Journal of Thrombosis and Thrombolysis - A high incidence of thrombotic events, particularly deep vein thrombosis and pulmonary embolism, has been clearly documented in COVID-19 patients. In...