Background and purpose
Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only ...15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the prevalence of these genetic disorders is not well known. Recently, biallelic mutations in the sorbitol dehydrogenase gene (SORD) have been identified as a cause of dHMN, with an estimated frequency in undiagnosed cases of up to 10%.
Methods
In the present study, we included 163 patients belonging to 108 different families who were diagnosed with a dHMN and who underwent a thorough genetic screening that included next‐generation sequencing and subsequent Sanger sequencing of SORD.
Results
Most probands were sporadic cases (62.3%), and the most frequent age of onset of symptoms was 2 to 10 years (28.8%). A genetic diagnosis was achieved in 37/108 (34.2%) families and 78/163 (47.8%) of all patients. The most frequent cause of distal hereditary motor neuropathies were mutations in HSPB1 (10.4%), GARS1 (9.8%), BICD2 (8.0%), and DNAJB2 (6.7%) genes. In addition, 3.1% of patients were found to be carriers of biallelic mutations in SORD. Mutations in another seven genes were also identified, although they were much less frequent. Eight new pathogenic mutations were detected, and 17 patients without a definite genetic diagnosis carried variants of uncertain significance. The calculated minimum prevalence of dHMN was 2.3 per 100,000 individuals.
Conclusions
This study confirms the genetic heterogeneity of dHMN and that biallelic SORD mutations are a cause of dHMN in different populations.
Distal hereditary motor neuropathies (dHMNs) are rare and genetically heterogeneous diseases. In this study, the diagnosis rate is 47.8%, and the calculated minimum prevalence is at least 2.3 per 100,000 individuals. The most frequent genetic causes of dHMN in our population are mutations in the HSPB1, GARS1, BICD2, and DNAJB2 genes, whereas 3.1% of patients carry biallelic mutations in SORD.
The analysis of an author’s writing style implies the characterization and identification of the style in terms of a set of features commonly called linguistic features. The analysis can be ...extrinsic, where the style of an author can be compared with other authors, or intrinsic, where the style of an author is identified through different stages of his life. Intrinsic analysis has been used, for example, to detect mental illness and the effects of aging. A key element of the analysis is the style markers used to model the author’s writing patterns. The style markers should handle diachronic changes and be thematic independent. One of the most commonly used style marker in extrinsic style analysis is n-gram. In this paper, we present the evaluation of traditional n-grams (words and characters) and dependency tree syntactic n-grams to solve the task of detecting changes in writing style over time. Our corpus consisted of novels by eleven English-speaking authors. The novels of each author were organized chronologically from the oldest to the most recent work according to the date of publication. Subsequently, two stages were defined: initial and final. In each stage three novels were assigned, novels of the initial stage corresponded to the oldest and those at the final stage to the most recent novels. To analyze changes in the writing style, novels were characterized by using four types of n-grams: characters, words, Part-Of-Speech (POS) tags and syntactic relations n-grams. Experiments were performed with a Logistic Regression classifier. Dimension reduction techniques such as Principal Component Analysis (PCA) and Latent Semantic Analysis (LSA) algorithms were evaluated. The results obtained with the different n-grams indicated that all authors presented significant changes in writing style over time. In addition, representations using n-grams of syntactic relations have achieved competitive results among different authors.
Data imputation aims to solve missing values problem which is common in nowadays applications. Many techniques have been proposed to solve this problem from statistical methods such as Mean/Mode to ...machine learning models. In this paper, an approach based on Co-active Neuro-Fuzzy Inference System named CANFIS-ART is proposed to automate data imputation procedure. This model is constructed from the Neural Network adaptative capabilities and fuzzy logic qualitative approach using the Fuzzy-ART algorithm. Performance of CANFIS-ART model is compared to other state-of-the-art imputation techniques such as Multilayer Perceptron or Hot-Deck, among others, using a total of eighteen databases exposed to a perturbation procedure based on the random generation of non-monotone missing values pattern. The data sets cover a wide range of fields, types of variables and sizes. A comparison of databases imputed by these models using a set of three classifiers has been conducted. A statistical analysis of these results employing Wilcoxon signed-ranked test has been included. Experiments show that CANFIS-ART approach not only outperforms these state-of-the-art techniques but also demonstrates a higher level of generalization capability, increasing the data quality contained in databases with missing values.
Abstract One of the main objectives of the European Commission (EC) since the 70s has been to coordinate research policies and to enhance the transnational cooperation in order to reach efficiency in ...terms of funding and to match with Europe’s economic ambitions. It has been addressed through a centralized approach managed by the EC and a decentralized approach through the cooperation of member states. Regarding the aviation sector, the centralized financing has been successfully implemented under the EU Research & Innovation Framework Programmes, while the decentralized approach has been less successful through the initiative Air Transport Net (AirTN) ERA-NET. The intention of this paper is to analyse the AirTN case study and its methodology to launch transnational calls, the results, and the reasons why it was not completely successful. Following the identification of these main barriers, we provide a list of suggestions that could have been implemented for a more successful outcome.
Temperature dependent X-ray photoemission spectroscopy (XPS) has been employed to examine the Fe 2p and N 1s core levels of the studied Fe(
ii
) spin crossover (SCO) complexes of interest, namely: ...Fe(phen)
2
(NCS)
2
, Fe(3-Fpy)
2
{Ni(CN)
4
}, and Fe(3-Fpy)
2
{Pt(CN)
4
}. The changes in the Fe 2p core-level spectra with temperature indicate spin state transitions in these SCO complexes, which are consistent with one's expectations and the existing literature. Additionally, the temperature dependence of the binding energy of the N 1s core-level provides further physical insights into the ligand-to-metal charge transfer phenomenon in these molecules. The high-spin fraction
versus
temperature plots reveal that the surface of each of the molecules studied herein is found to be in the high-spin state at temperatures both in the vicinity of room temperature and below their respective transition temperature alike, with the stability of the high-spin state of these molecules varying with the choice of ligand.
High-spin fraction of Fe(3-Fpy)
2
{Ni(CN)}
4
extrapolated from XPS (black and green triangles) and compared with normalised magnetic susceptibility measurements (blue curve).
The aim of this study was to analyze the position of the lumbopelvic region and the muscle activation of erector spinae and biceps femoris muscles in a group of pregnant women in the third trimester. ...The hypothesis was that pregnancy-related biomechanical and morphological changes modify the position of the lumbopelvic region and the activation of extensor muscles. The position of the lumbar spine and pelvis in the sagittal plane, and the EMG activity of the erector spinae and biceps femoris muscles, were recorded during standing in 34 nulliparous and 34 pregnant women in the third trimester, and also two months after birth in the group of pregnant women. No significant differences in the position of the lumbar spine or pelvis between the group of pregnant women and nulliparous or postpartum were observed. A significant increase was observed in the EMG activity of the erector spinae (4.6% vs 2.4% and 2.1% in the nulliparous group and postpartum respectively) and the biceps femoris (3.4% vs 1.2% and 1.4%) in pregnant women compared to the other two groups (p <0.01). We conclude that pregnant women in the third trimester show no alterations in lumbopelvic position compared to nulliparous and postpartum women. However, there is an increase of the EMG activity of the trunk extensors. These results indicate that the extensor muscles of the trunk show, in static positions, adaptive responses to the increase of anterior loads during pregnancy.
The burial of Individual 3 at the Newen Antug site, a young adult woman, with a pottery grave offering characteristic of the Late Pottery period and dated to 880 years BP, is an indirect burial in a ...wooden structure. The form and design comprise a wooden wampo or small canoe, or a symbolic representation of one, a metaphor in current and historical Mapuche society for the voyage to the final abode of the dead, located beyond a water body which must be crossed in a boat. This is the first find of a burial in a canoe structure in Argentinian Patagonia, and the most southern example on the whole continent. It is also the earliest record in Argentina of pottery of the Red on White Bichrome tradition used as a grave offering, extending the repertoire of characteristics shared between the two slopes of the Andes mountains during the pottery periods, including ritual as well as material aspects.
The high incidence and mortality rate of colorectal cancer require new technologies to improve its early diagnosis. This study aims at extracting the medical needs related to the endoscopic ...technology and the colonoscopy procedure currently used for colorectal cancer diagnosis, essential for designing these demanded technologies.
Semi-structured interviews and an online survey were used.
Six endoscopists were interviewed and 103 were surveyed, obtaining the demanded needs that can be divided into: a) clinical needs, for better polyp detection and classification (especially flat polyps), location, size, margins and penetration depth; b) computer-aided diagnosis (CAD) system needs, for additional visual information supporting polyp characterization and diagnosis; and c) operational/physical needs, related to limitations of image quality, colon lighting, flexibility of the endoscope tip, and even poor bowel preparation.
This study shows some undertaken initiatives to meet the detected medical needs and challenges to be solved. The great potential of advanced optical technologies suggests their use for a better polyp detection and classification since they provide additional functional and structural information than the currently used image enhancement technologies. The inspection of remaining tissue of diminutive polyps (< 5 mm) should be addressed to reduce recurrence rates. Few progresses have been made in estimating the infiltration depth. Detection and classification methods should be combined into one CAD system, providing visual aids over polyps for detection and displaying a Kudo-based diagnosis suggestion to assist the endoscopist on real-time decision making. Estimated size and location of polyps should also be provided. Endoscopes with 360° vision are still a challenge not met by the mechanical and optical systems developed to improve the colon inspection. Patients and healthcare providers should be trained to improve the patient's bowel preparation.
Archaeological research in the Dolmen of El Pendón (Reinoso, Burgos, Spain) has brought to light the complex biography of a megalithic monument used throughout the 4th millennium cal. BC. The ossuary ...of this burial holds the bones of nearly a hundred individuals who suffered from diverse pathologies and injuries. This study presents the discovery of a skull with two bilateral perforations on both mastoid bones. These evidences point to a mastoidectomy, a surgical procedure possibly performed to relieve the pain this prehistoric individual may have suffered as a result of otitis media and mastoiditis. The hypothesis of surgical intervention is also supported by the presence of cut marks at the anterior edge of the trepanation made in the left ear. Furthermore, the results of this paper demonstrate the survival of the individual to both interventions. Given the chronology of this dolmen, this find would be the earliest surgical ear intervention in the history of mankind.
The use of innovative techniques such as micro‐photogrammetry and geometric morphometrics may have a major impact on the differentiation of cut marks made with different raw materials and, thus, link ...butchering processes with stone tool reduction sequences. This work focuses on a sample of cut‐marked bones from the Bell's Korongo (BK) site (Upper Bed II, Olduvai Gorge, Tanzania), which is an emblematic early Pleistocene site where a large faunal assemblage, including a diverse megafauna, occurs in association with quartzite and basalt industries. We present a detailed study of a sample of 58 cut marks identified on a set of recently excavated BK fossils, using a micro‐photogrammetric and geometric morphometric approach, with the aim of identifying the raw materials used in the butchery of carcasses. In order to carry out this study, we previously carried out an experimental analysis to characterize cut marks and their morphology according to the types of raw material found at BK, namely quartzite and basalt. The results from the experimental study show that there is a good fit between raw material type and cut mark morphology, enabling us to confidently apply this method to the analysis of the cut marks of the BK fossil assemblage. The present study shows that most of the BK cut marks were created by the use of quartzite tools. The efficiency of this type of raw material is emphasized, which explains its curation over the landscape by hominins.
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