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Endocrine and metabolic complications in a national cohort of Slovene children and adolescents with Duchenne muscular dystrophy
Get PDFAims: To assess the prevalence of endocrine/metabolic disorders among pediatric Duchenne muscular dystrophy (DMD) patients and identify individuals who would benefit from the new corticosteroid treatment available, vamorolone. Methods: A national pediatric cohort of DMD patients followed at University Children’s Hospital, University Medical Center Ljubljana in June 2025 was included in the study. The presence of endocrine/metabolic disorders was determined by clinical examination, laboratory data, and imaging at the last annual multidisciplinary evaluation. Results: A total of 21 patients (average age 11.1, range 4.6-16.7 yrs) were included in the study. Two patients were corticosteroid-naive, the rest treated with deflazacort (average treatment duration 5.4, range 1.1-11.3 yrs). At the time of final follow-up, 90% were diagnosed with an endocrine and/or metabolic disorder. Short stature was present in 67% of patients, a decline in height standard deviation score (SDS) since the initiation of corticosteroid therapy was observed, -2.37 SDS on average. Based on body composition data (fat % SDS), 57% were classified as obese. Lipid abnormalities were detected in 76% of patients. Insulin resistance (determined by HOMA-IR) was increased in 9.5% of patientstype 2 diabetes was not detected. Conclusion: Our findings demonstrate a high prevalence of endocrine and metabolic disturbances among patients with DMD. In light of emerging evidence on the potential benefits of vamorolone - particularly regarding bone health and growth - we identified a subgroup of patients most likely to benefit from its use. We propose that ambulatory, non-corticosteroid naive patients with pathological fractures, markedly reduced bone density, short stature, or significant growth deceleration could be considered for the therapeutic transition. Accordingly, we established national clinical criteria to guide individualized therapeutic transitions, aimed at optimizing clinical outcomes and ensuring efficient allocation of healthcare resources
Precursor dendritic cell proliferation in multiple myeloma
Get PDFBackground: Dendritic cells (DCs) are heterogeneous antigen-presenting cells that bridge innate and adaptive immunity. Recent classifications of hematolymphoid neoplasms highlight the complex origins of DC-related neoplasms. DCs have also been associated with the progression of multiple myeloma (MM). This report presents the case of a patient with MM in whom bone marrow analysis revealed an unusual additional clonal population of immature cells, in addition to plasmacytoid DCs, that later evolved into plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia (pDC-AML). Methods: The bone marrow of a 69-year-old man with neutropenia and thrombocytopenia was examined by morphology, immunohistochemistry, flow cytometry, cytogenetics, fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Serial assessments were performed before and during treatment with bortezomib and dexamethasone for MM, and later with daunorubicin/cytarabine for AML. Results: Initial bone marrow analysis revealed coexisting clonal plasma cells with t(1114) and a population of CD34+/CD123+/CD45RA+ cells lacking lineage markers, in addition to pDCs, suggestive of precursor DCs rather than acute undifferentiated leukemia. Cytogenetic analysis identified a small clone with isolated del(20q), which corresponded in size to the clone of undifferentiated cells and to the clone with pathogenic variants detected by NGS in the BCOR, RUNX1, and SRSF2 genes. Myeloma therapy decreased both MM and undifferentiated cellshowever, within four months, pDC-AML evolved with del(20q) and higher variant allele frequencies of the previously detected gene variants. Remission was achieved with standard AML chemotherapy. Conclusions: This case supports evidence that MM-associated immune dysfunction and bone marrow niche alterations may promote secondary myeloid malignancies independently of cytotoxic therapy. It demonstrates the earliest events in pDC-AML evolution. Furthermore, the immature immunophenotype raises the question of appropriate treatment, since a diagnosis of acute undifferentiated leukemia can be established
Multicenter evaluation of different anti-Xa assays and diluted Russell’s viper venom time in ex vivo plasma samples from patients treated with rivaroxaban or apixaban
Get PDFBackground/Objectives: Different anti-Xa assays are routinely used to evaluate the plasma concentrations of direct factor X inhibitors (DXIs) rivaroxaban and apixaban, despite a lack of data on assay equivalence. Information on assay performance is particularly important at clinical decision cut-offs, such as 50 ng/mL or 30 ng/mL. The aim of this study was to evaluate the equivalence of different anti-Xa assays with the reference LC-MS/MS method for measuring rivaroxaban and apixaban concentrations in a multicenter study. In addition, the usefulness of the dRVVT as a simple coagulation test for emergency situations was evaluated. Methods: We included 122 patients with atrial fibrillation. Trough and peak blood samples were collected from 60 patients treated with rivaroxaban and 62 patients treated with apixaban. Rivaroxaban and apixaban plasma levels were measured by LC–MS/MS. Different anti-Xa assays were used in three laboratories to evaluate equivalence. Results: The concentrations in the analyzed samples ranged from 2 to 781 ng/mL for rivaroxaban and 9 to 568 ng/mL for apixaban. Only one of the anti-Xa assays gave equivalent results to LC-MS/MS for rivaroxaban, and none for apixaban. All anti-Xa assays significantly underestimated apixaban concentration, with a proportional bias between 10% and 20%. A high correlation was found between DXI concentration and dRVVT clotting time, but dRVVT was not consistently prolonged at clinically relevant DXI concentrations in plasma. Conclusions: Only one of the anti-Xa assays showed equivalence with LC-MS/MS for rivaroxaban, and none for apixaban. Several anti-Xa assays provided reliable results for rivaroxaban in the range of clinically relevant cut-off values, but none for apixaban, which could expose patients to a higher risk of bleeding and urgently needs further clinical research. The dRVVT test was not sensitive enough for reliable detection of clinically relevant DXI plasma concentrations and therefore cannot replace the anti-Xa assay in emergency situations
Comprehensive assessment of harvesting method effects on FAEE, waxes, fatty acids, phenolics, volatiles, and sensory characteristics of Buža virgin olive oil
Get PDFIncreasing competition in the olive oil market and labor shortages have accelerated the use of mechanical harvesting, raising concerns about potential fruit damage and its impact on oil quality. This study examined how three harvesting methods: manual using hand-held combs (B-HH) and two mechanical, hand-held shaker rake (B-MH-1) and self-propelled trunk shaker (B-MH-2), affect the quality and composition of Buža variety virgin olive oil. The greatest damage to the fruits occurred in B-MH-1, whereas the least was observed in B-HH. Olives were processed within 24 h, and oils were analyzed for basic quality parameters, fatty acid ethyl esters (FAEE), waxes content, fatty acid composition, volatile and phenolic profiles, and sensory attributes. Harvesting method did not significantly affect acidity, peroxide value, UV indices, FAEE, waxes, and fatty acids. Analyses of volatile and phenolic compounds revealed only slight differences. Nevertheless, sensory assessment detected no defects, with only minor reductions in positive odor attributes in B-MH-1. Taste attributes remained unchanged, consistent with similar total phenolic content. Overall, when olives are promptly processed, all investigated harvesting methods result in high-quality Buža olive oil
The exact region determined by Blomqvist’s beta, Spearman’s footrule and Gini’s gamma
Get PDFTo quantify the degree of association between random variables, concordance measures are employed. To express such a degree, a single measure might give too much space, so several are used for comparison. In this paper we study the ternary relation between three well-known (weak) concordance measures, namely Blomqvist’s beta, Spearman’s footrule and Gini’s gamma. In other words, given the values of Blomqvist’s beta and Spearman’s footrule, we determine the degree of freedom a copula has at taking the value of Gini’s gamma. We explicitly determine the 3-dimensional region representing the relation. We also provide copulas where bounds of the region are attained
Izboljšanje mehanskih lastnosti plastomagneta na osnovi NdFeB s polifenilensulfidno (PPS) polimerno matrico
No full textDeformations of an affine Gorenstein toric pair
Get PDFWe consider deformations of a pair , where is an affine toric Gorenstein variety and is its boundary. We compute the tangent and obstruction space for the corresponding deformation functor and for an admissible lattice degree we construct the miniversal deformation of in degrees , for all . This in particular generalizes Altmann\u27s construction of the miniversal deformation of an isolated Gorenstein toric singularity to an arbitrary non-isolated Gorenstein toric singularity. Moreover, we show that the irreducible components of the reduced miniversal deformation are in one to one correspondence with maximal Minkowski decompositions of the polytope , where is the lattice polytope defining