58 research outputs found

    Translation and cross-cultural adaptation methodology for soundscape attributes – A study with independent translation groups from English to Greek

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    The use of questionnaires for soundscape evaluation is a key aspect of soundscape research. Since standards and protocols mainly exist in English, using an appropriate translation and cross-cultural adaptation (CCA) methodology is necessary to maintain content equivalence between source and target language. However, many examples can be found in the literature where no appropriate methodology was applied. This study addresses the neglected aspect of the translation and CCA process in soundscape research by selecting, applying and evaluating an appropriate methodology. After a survey of the relevant literature, an approach based on a combined technique of the forward translation, synthesis, back translation, pre-test and a committee approach was selected. Additional translation guidelines drawn from the literature are suggested and implemented. For the case study of the Greek translation of ISO/TS 12913–2:2018 attributes (Method A), the steps of the methodology were applied by four independent translation groups with different compositions according to the biculturalism and bilingualism of the group members. A method for categorization of bilinguals according to the literature is proposed. In order to compare and validate the results, translated and original attributes were used in listening tests with Greek and English participants respectively, and principal component analysis (PCA) was applied. The most important findings of this research are: the results of the bicultural translation group were closer to the PCA results of the English participants for every attribute, translation of bilingual groups may not be always sufficient, translation errors may be misinterpreted for cross-cultural differences without proper application of a translation methodology and the process of back translation can be effective, especially in cases where there are not corresponding words in the target language. Finally, PCA can be used as a validation methodology for comparison of different translations

    Clinical Management of Congenital Hypogonadotropic Hypogonadism

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    The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results from the failure of the normal episodic GnRH secretion, leading to delayed puberty and infertility. CHH can be associated with an absent sense of smell, also termed Kallmann syndrome, or with other anomalies. CHH is characterized by rich genetic heterogeneity, with mutations in >30 genes identified to date acting either alone or in combination. CHH can be challenging to diagnose, particularly in early adolescence where the clinical picture mirrors that of constitutional delay of growth and puberty. Timely diagnosis and treatment will induce puberty, leading to improved sexual, bone, metabolic, and psychological health. In most cases, patients require lifelong treatment, yet a notable portion of male patients (approximate to 10% to 20%) exhibit a spontaneous recovery of their reproductive function. Finally, fertility can be induced with pulsatile GnRH treatment or gonadotropin regimens in most patients. In summary, this review is a comprehensive synthesis of the current literature available regarding the diagnosis, patient management, and genetic foundations of CHH relative to normal reproductive development.Peer reviewe

    Interfacility transfers in a non-trauma system setting: an assessment of the Greek reality

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    <p>Abstract</p> <p>Background</p> <p>Quality assessment of any trauma system involves the evaluation of the transferring patterns. This study aims to assess interfacility transfers in the absence of a formal trauma system setting and to estimate the benefits from implementing a more organized structure.</p> <p>Methods</p> <p>The 'Report of the Epidemiology and Management of Trauma in Greece' is a one year project of trauma patient reporting throughout the country. It provided data concerning the patterns of interfacility transfers. We compared the transferred patient group to the non transferred patient group. Information reviewed included patient and injury characteristics, need for an operation, Intensive Care Unit (ICU) admittance and mortality. Analysis employed descriptive statistics and Chi-square test. Interfacility transfers were then assessed according to each health care facility's availability of five requirements; Computed Tomography scanner, ICU, neurosurgeon, orthopedic and vascular surgeon.</p> <p>Results</p> <p>Data on 8,524 patients were analyzed; 86.3% were treated at the same facility, whereas 13.7% were transferred. Transferred patients tended to be younger, male, and more severely injured than non transferred patients. Moreover, they were admitted to ICU more often, had a higher mortality rate but were less operated on compared to non transferred patients. The 34.3% of transfers was from facilities with none of the five requirements, whereas the 12.4% was from those with one requirement. Low level facilities, with up to three requirements transferred 43.2% of their transfer volume to units of equal resources.</p> <p>Conclusion</p> <p>Trauma management in Greece results in a high number of transfers. Patients are frequently transferred between low level facilities. Better coordination could lead to improved outcomes and less cost.</p

    Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

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    PURPOSE Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting in absent puberty and infertility. The genetic architecture is complex with multiple loci involved, variable expressivity, and incomplete penetrance. The majority of cases are sporadic, consistent with a disease affecting fertility. The current study aims to investigate mosaicism as a genetic mechanism for CHH, focusing on de novo rare variants in CHH genes. METHODS We evaluated 60 trios for de novo rare sequencing variants (RSV) in known CHH genes using exome sequencing. Potential mosaicism was suspected among RSVs with altered allelic ratios and confirmed using customized ultradeep sequencing (UDS) in multiple tissues. RESULTS Among the 60 trios, 10 probands harbored de novo pathogenic variants in CHH genes. Custom UDS demonstrated that three of these de novo variants were in fact postzygotic mosaicism-two in FGFR1 (p.Leu630Pro and p.Gly348Arg), and one in CHD7 (p.Arg2428*). Statistically significant variation across multiple tissues (DNA from blood, buccal, hair follicle, urine) confirmed their mosaic nature. CONCLUSIONS We identified a significant number of de novo pathogenic variants in CHH of which a notable number (3/10) exhibited mosaicism. This report of postzygotic mosaicism in CHH patients provides valuable information for accurate genetic counseling

    Mutant KRAS promotes malignant pleural effusion formation

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    Malignant pleural effusion (MPE) is the lethal consequence of various human cancers metastatic to the pleural cavity. However, the mechanisms responsible for the development of MPE are still obscure. Here we show that mutant KRAS is important for MPE induction in mice. Pleural disseminated, mutant KRAS bearing tumour cells upregulate and systemically release chemokine ligand 2 (CCL2) into the bloodstream to mobilize myeloid cells from the host bone marrow to the pleural space via the spleen. These cells promote MPE formation, as indicated by splenectomy and splenocyte restoration experiments. In addition, KRAS mutations are frequently detected in human MPE and cell lines isolated thereof, but are often lost during automated analyses, as indicated by manual versus automated examination of Sanger sequencing traces. Finally, the novel KRAS inhibitor deltarasin and a monoclonal antibody directed against CCL2 are equally effective against an experimental mouse model of MPE, a result that holds promise for future efficient therapies against the human condition

    Unpublished Mediterranean and Black Sea records of marine alien, cryptogenic, and neonative species

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    To enrich spatio-temporal information on the distribution of alien, cryptogenic, and neonative species in the Mediterranean and the Black Sea, a collective effort by 173 marine scientists was made to provide unpublished records and make them open access to the scientific community. Through this effort, we collected and harmonized a dataset of 12,649 records. It includes 247 taxa, of which 217 are Animalia, 25 Plantae and 5 Chromista, from 23 countries surrounding the Mediterranean and the Black Sea. Chordata was the most abundant taxonomic group, followed by Arthropoda, Mollusca, and Annelida. In terms of species records, Siganus luridus, Siganus rivulatus, Saurida lessepsianus, Pterois miles, Upeneus moluccensis, Charybdis (Archias) longicollis, and Caulerpa cylindracea were the most numerous. The temporal distribution of the records ranges from 1973 to 2022, with 44% of the records in 2020–2021. Lethrinus borbonicus is reported for the first time in the Mediterranean Sea, while Pomatoschistus quagga, Caulerpa cylindracea, Grateloupia turuturu, and Misophria pallida are first records for the Black Sea; Kapraunia schneideri is recorded for the second time in the Mediterranean and for the first time in Israel; Prionospio depauperata and Pseudonereis anomala are reported for the first time from the Sea of Marmara. Many first country records are also included, namely: Amathia verticillata (Montenegro), Ampithoe valida (Italy), Antithamnion amphigeneum (Greece), Clavelina oblonga (Tunisia and Slovenia), Dendostrea cf. folium (Syria), Epinephelus fasciatus (Tunisia), Ganonema farinosum (Montenegro), Macrorhynchia philippina (Tunisia), Marenzelleria neglecta (Romania), Paratapes textilis (Tunisia), and Botrylloides diegensis (Tunisia).peer-reviewe

    FEM for the Acoustic Modeling of Eigenmodes: Case of the Cultural Heritage Monument of Neoria, Crete

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    Eigenfrequencies inside a space significantly affect its acoustic characteristics, especially below the Schroeder frequency in the low-frequency range. In Architectural Acoustics, accurate detection and visualization of eigenmodes can be particularly useful in practical applications. One of the most important landmarks in Chania, Greece, is Neoria, a cluster of 16th-century Venetian shipyards. One existing Neoria will be converted and used as a multipurpose hall. For this objective, acoustic modeling and various measurements were performed in the space. One of the purposes of the measures and modeling was the investigation of the eigenfrequencies and the eigenmodes of the area. Finite Element Method (FEM) was used for the acoustic modeling, while the acoustic measurements were performed in various positions according to ISO 3382-1. Impulse responses were measured, and frequency responses of the space were extracted using Fourier analysis. The measurements and the acoustic modeling results show that the frequencies with the most significant effect on the area are 86.1 Hz, 150.7 Hz, and 204.6 Hz. Eigenmodes of the frequencies are visualized with the application of FEM and especially the positions of nodes and antinodes, which can be utilized appropriately for the optimum placement of absorbers and diffusers in the space

    Low Cost Omnidirectional Sound Source Utilizing a Common Directional Loudspeaker for Impulse Response Measurements

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    Alternative low-cost sources (e.g., balloons, gun fires) are used for impulse response measurements when a dodecahedron speaker is not available. This study sets to explore the applicability of a method utilizing a common directional loudspeaker as a sound source. For this purpose measurements were performed in three spaces with three different common directional loudspeakers. Different placements of the loudspeakers were performed (twelve positions similar to the twelve positions of the faces of a dodecahedron speaker, different rotations of the loudspeakers for a total sum of twenty six and fourteen positions). The impulse responses obtained were added up creating a single impulse response for each case. Comparisons of the acoustic parameters measured with the proposed method and with a dodecahedron speaker are presented and suggest the expected mean absolute error and standard deviation for similar measurements. Reverberation time measurements show a mean absolute error of less than 0.08 s, as compared with measurements with a dodecahedron speaker. The proposed method can be the primary method for measuring impulse responses when a dodecahedron speaker is not available. Suggested improvements may lead to better omnidirectionality as compared with a dodecahedron loudspeaker, and set the method applicable to be utilized for auralization purposes
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