Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. JAK2 46/1 and TERT rs2736100 polymorphisms are known to significantly predispose to MPN. This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN. These three polymorphisms, along with JAK2 46/1 and TERT rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls. MECOM rs2201862 associated significantly with each MPN entity, except for ET, and with all major molecular sub-types, especially those CALR-mutated (OR = 1.4; 95% CI = 1.1-1.8; P-value = .005). HBS1L-MYB rs9376092 associated only with JAK2 V617F-mutated ET (OR = 1.4; 95% CI = 1.1-1.7; P-value = .003). THRB-RARB rs4858647 had a weak association with PMF only (OR = 1.5; 95% CI = 1-2.1; P-value = .04). Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01). TERT rs2736100 was associated equally strong with all MPN, regardless of phenotype or molecular sub-type. In conclusion, JAK2 46/1, TERT rs2736100 and MECOM rs2201862 are the chief predisposing polymorphisms to MPN.

ObjectivesOsteoporosis is a common skeletal disorder characterized by decreased bone mass and increased susceptibility to fractures, which are associated with pain and decrease in physical function, social function, and well-being, which are all aspects of quality of life (QoL). The purpose of this study was to evaluate the burden of osteoporosis and fragility fractures in Romanian postmenopausal women from Cluj County using the 36-Item Short Form Health Survey (SF-36) and Quality of life questionnaire of the European Foundation for Osteoporosis (QUALEFFO-41) questionnaires.Materials and methodsAn analytical cross-sectional study on 364 postmenopausal women was carried out between June 2016 and August 2017 in the Clinical Rehabilitation Hospital in Cluj-Napoca, Cluj County, Romania. Data were collected by interview and from the medical documents: clinical and demographic data, personal medical history, risk factors for osteoporosis, and bone mineral density at the lumbar spine and femur. The patients included in the study were asked to complete the Romanian versions of the SF-36 and QUALEFFO-41 questionnaires.ResultsWomen with osteoporosis had significantly lower scores in the SF-36 domains (P<0.001) than healthy controls. In the osteoporosis group, a significant association was found in the SF-36 pain domain, where women with a history of fracture had higher scores (P=0.035). As for QUALEFFO-41, a statistical significance was found in the total score (P<0.05), revealing a significantly lower QoL in osteoporotic women with a history of fracture.ConclusionThe SF-36 scores registered a loss of QoL in women with osteoporosis. The QUALEFFO-41 total score was significantly lower in the osteoporosis associated with fracture, revealing a lower health-related QoL in these patients.

Super Inductive System (SIS) stimulation of spastic limbs by tissue-induced electromagnetic field may have the effect of reducing spasticity and improving functionality in patients with post-stroke spasticity. The aim of the study was to evaluate two different protocols for the application of SIS on upper limb spasticity after stroke. We included 60 patients with post-stroke upper limb spasticity, who were randomized into two groups: the study group, with a 9 min application protocol (1 min for agonist muscles, 8 min for antagonistic muscles); and the control group, with an 8 min protocol applied only to the antagonistic muscles. The duration of therapy was 10 days, and the results were assessed using the Modified Ashworth Scale (MAS) and the Barthel Index. Both the MAS and the Barthel Index improved significantly after 10 days of treatment (p < 0.001), but 30 days after the completion of therapy, there was an attenuation of the effects in both study groups. The study group had a significantly higher percentage of patients with improved MAS after 10 days (p = 0.004) and within 30 days (p < 0.001) than the control group. An SIS protocol applied on both agonist and antagonist muscles has a more pronounced and longer lasting spasticity-reducing and improved functionality effect than its application on only antagonistic muscles.

As the number of stroke survivors is continuously growing, with an important number suffering from consequent functional deficits, the rehabilitation field is facing more complex demands. Technological progress gives us the opportunity to remotely assist patients while they exercise at home through telerehabilitation (TR), addressing the problems of limited medical resources and staff, difficult transportation, or living a long distance from rehabilitation centers. In addition, TR is a way to provide continuity in long-term post-stroke recovery during the COVID-19 pandemic, which limits traveling and human interaction. While the implementation of TR is increasing, the biggest challenges are to raise patients’ acceptability of the new method and their motivation and engagement during the program. In this review, we aimed to find methods to address these challenges by identifying the patients who benefit the most from this therapy and efficiently organizing the space and technology used for telerehabilitation. User-friendly technologies and devices along with therapists’ constant support and feedback are some of the most important aspects that make TR an efficient intervention and an alternative to conventional therapy.

ObjectivesThis study aimed to assess the relationship between bone mineral density and genotypes of four polymorphisms in previously detected osteoporosis-candidate genes (FDPS rs2297480, LRP5 rs3736228, SOST rs1234612, VKORC1 rs9934438) in postmenopausal Romanian women with primary osteoporosis.MethodsAn analytical, prospective, transversal, observational, case-control study on 364 postmenopausal Romanian women was carried out between June 2016 and August 2017 in Cluj Napoca, Romania. Clinical data and blood samples were collected from all study participants. Four polymorphisms were genotyped using TaqMan SNP Genotyping assays, run on a QuantStudio 3 real-time PCR machine.ResultsWomen with TT genotype in FDPS rs2297480 had significantly lower bone mineral density values in the lumbar spine and total hip, and the presence of the T allele was significantly associated with the osteoporosis. Women carrying the CC genotype in LRP5 rs3736228 tend to have lower bone mineral density values in the femoral neck and total hip. No significant association was found for the genotypes of SOST rs1234612 or VKORC1 rs9934438.ConclusionsOur study showed a strong association between bone mineral density and polymorphisms in the FDPS gene, and a borderline association with LRP5 and SOST polymorphisms in postmenopausal Romanian women with osteoporosis. No association was found for VKORC1.