7 research outputs found

    Treatment results of pathological fractures of the long bones: a retrospective analysis of 88 patients

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    Due to the advances in oncological therapy, the life expectancy of patients with malignant tumours and the incidence of pathological fractures have increased over the last decades. Pathological fractures of the long bones are common complications of metastatic disease; however, the outcome of different surgical techniques for the treatment of these fractures has not been clearly defined. The aim of this study was to evaluate differences in patient’s survival and postoperative complications after the treatment of pathological fractures of the long bones. Eighty-eight patients with 96 pathological fractures of the long bones were analysed retrospectively. Seventy-five patients with 83 fractures received surgical treatment. The operative treatments used were intramedullary fixation, gliding screws, plate osteosynthesis or arthroplasty. Five patients were still alive at the end of data collection at a median time of 42.5 months, and 16.2% survived 1 year, 7% 2 years and 4% more than 3 years postoperatively. All surgically treated patients had a reduction of local pain and were able to walk after the operation. The overall rate of complications was 8%. Early palliative treatment of pathological fractures of the long bones is indicated in most patients in the advanced stage of metastatic disease. The low complication rate, reduction of local pain and early mobilisation justify the surgical stabilisation of fractures in this cohort of patients

    Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

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    Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development (MCD), and Charcot-Marie-Tooth disease, type 2O (CMT2O). We hypothesized that additional variants could be found in these and novel motoneuron and related diseases. Therefore we analysed our database of 1,024 whole exome sequencing samples of motoneuron and related diseases for novel single nucleotide variations. We filtered these results for significant variants, which were further screened using segregation analysis in available family members. Analysis revealed six novel, rare, and highly conserved variants. Three of these are likely pathogenic and encompass a broad phenotypic spectrum with distinct disease clusters. Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease. It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways

    NaCl Transport in the Kidney

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    Body appreciation around the world: Measurement invariance of the Body Appreciation Scale-2 (BAS-2) across 65 nations, 40 languages, gender identities, and age

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    The Body Appreciation Scale-2 (BAS-2) is a widely used measure of a core facet of the positive body image construct. However, extant research concerning measurement invariance of the BAS-2 across a large number of nations remains limited. Here, we utilised the Body Image in Nature (BINS) dataset - with data collected between 2020 and 2022 - to assess measurement invariance of the BAS-2 across 65 nations, 40 languages, gender identities, and age groups. Multi-group confirmatory factor analysis indicated that full scalar invariance was upheld across all nations, languages, gender identities, and age groups, suggesting that the unidimensional BAS-2 model has widespread applicability. There were large differences across nations and languages in latent body appreciation, while differences across gender identities and age groups were negligible-to-small. Additionally, greater body appreciation was significantly associated with higher life satisfaction, being single (versus being married or in a committed relationship), and greater rurality (versus urbanicity). Across a subset of nations where nation-level data were available, greater body appreciation was also significantly associated with greater cultural distance from the United States and greater relative income inequality. These findings suggest that the BAS-2 likely captures a near-universal conceptualisation of the body appreciation construct, which should facilitate further cross-cultural research
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