Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey

We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations. Our patient was initially referred to the lipid clinic due to high cholesterol levels and premature cardiovascular disease. Diagnosis of familial hypercholesterolemia was established in accordance with the Dutch Lipid Clinic Network criteria. Next-generation sequencing was later performed, which revealed a nonsense mutation in the ABCG8 gene, which led to the diagnosis of sitosterolemia. The aim of our report is to demonstrate, how genetic testing helped to make the correct diagnosis and to explain many of the patient's health problems, which etiology remained unclear for many years.

The Fintech Sensation - What is it about?

The years following the 2008 financial crisis have been characterized by the emergence of new financial service providers, called fintech. The term is defined and understood differently in the literature. There is an agreement that fintech is composed of the words "financial" and "technology". Regarding the different views and definitions, there is great heterogeneity in the literature and this article tries to systematize them. Furthermore, different justifications for its existence are examined and a proposal for categorization is made. Argumentatively, various opportunities and risks are highlighted that arise in connection with Fintech. Finally, various ideas and starting points for further research are derived from the arguments. Keywords: Fintech, Tech innovation, Financial technology

Clustering Users to Determine the Most Suitable Gamification Elements

The use of gamification elements has extended from being a complement for a product to being integrated into multiple public services to motivate the user. The first drawback for service designers is choosing which gamification elements are appropriate for the intended audience, in addition to the possible incompatibilities between gamification elements. This work proposes a clustering technique that enables mapping different user profiles in relation to their preferred gamification elements. Additionally, by mapping the best cluster for each gamification element, it is possible to determine the preferred game genre. The article answered the following research questions: What is the relationship between the genre of the game and the element of gamification? Different user groups (profiles) for each gamification element? Results indicate that there are cases where the users are divided between those who agree or disagree. However, other elements present a great heterogeneity in the number of groups and the levels of agreement.

Cognitive Rehabilitation in Multiple Sclerosis in the Period from 2013 and 2021: A Narrative Review

Background: In recent years, several blinded randomized controlled trials (RCT) have been conducted on cognitive rehabilitation (CR) in adults with multiple sclerosis (MS). Objective: To review all blinded RCTs on CR in MS published since 2013. Methods: The National Library of Medicine database (Medline) and PSYCINFO were searched using the keywords MS and CR or cognitive training or NP rehabilitation or memory rehabilitation or attention rehabilitation. Results: After the exclusion of some papers not specifically focused on CR, a final list of 26 studies was established. The papers belong to three main categories: individual specific rehabilitation (8studies), group rehabilitation (4 studies), and computerized training (CT) (14 studies), while one study combined group rehabilitation and CT. Among the individual rehabilitation studies, 5 were devoted to memory, and most of the 19 other selected studies were about several cognitive domains. Most of the studies mainly concerned RRMS patients, except for 2 studies that were carried out exclusively in progressive forms. Despite the methodological limitations of some studies and the great heterogeneity of the protocols, the results are generally in favor of the efficacy of CR in neuropsychological tests. Conclusion: Recent blinded RCTs about CR in MS show promising results.

Prevalence of SARS-CoV-2 infection among people experiencing homelessness in Toronto during the first wave of the COVID-19 pandemic

Objectives People experiencing homelessness are at increased risk of SARS-CoV-2 infection. This study reports the point prevalence of SARS-CoV-2 infection during testing conducted at sites serving people experiencing homelessness in Toronto during the first wave of the COVID-19 pandemic. We also explored the association between site characteristics and prevalence rates. Methods The study included individuals who were staying at shelters, encampments, COVID-19 physical distancing sites, and drop-in and respite sites and completed outreach-based testing for SARS-CoV-2 during the period April 17 to July 31, 2020. We examined test positivity rates over time and compared them to rates in the general population of Toronto. Negative binomial regression was used to examine the relationship between each shelter-level characteristic and SARS-CoV-2 positivity rates. We also compared the rates across 3 time periods (T1: April 17–April 25; T2: April 26–May 23; T3: May 24–June 25). Results The overall prevalence of SARS-CoV-2 infection was 8.5% (394/4657). Site-specific rates showed great heterogeneity with infection rates ranging from 0% to 70.6%. Compared to T1, positivity rates were 0.21 times lower (95% CI: 0.06–0.75) during T2 and 0.14 times lower (95% CI: 0.04–0.44) during T3. Most cases were detected during outbreak testing (384/394 [97.5%]) rather than active case finding. Conclusion During the first wave of the pandemic, rates of SARS-CoV-2 infection at sites for people experiencing homelessness in Toronto varied significantly over time. The observation of lower rates at certain sites may be attributable to overall time trends, expansion of outreach-based testing to include sites without known outbreaks, and/or individual site characteristics.

Skin manifestations of COVID-19

The infection caused by the recently identified SARS-CoV-2, dubbed coronavirus disease-19 (COVID-19), has become a pandemic. With exponential growth of morbidity among the people around the world, the clinical characteristics of COVID-19 are becoming clearer and description of new disease symptoms descriptions is emerging. The sufficient amount of descriptions of various skin manifestations in patients with COVID-19 has appeared, however they are characterized by great heterogeneity. The pathogenetic mechanisms of the development of skin rashes in patients with COVID-19 are currently unknown, however, hypotheses have been put forward that they have an overactive immune response, activation of the complement system and microvascular damage. Based on the published literature data and our own experience, the following characteristic types of skin rashes can be distinguished among the skin manifestations of this viral disease: urticaria, confluent, papulovesicular exanthema, acral rashes similar to frostbite, livedo reticularis and purpura. Possible development of skin lesions against the background of the development of COVID-19 provides the need to inform dermatologists about the features of the skin manifestations of this disease, as well as to study further these symptoms of COVID-19 to determine their diagnostic and prognostic value.

Language Assessment in Multilingualism and Awake Neurosurgery

Multilingualism has become a worldwide phenomenon that poses critical issues about the language assessment in patients undergoing awake neurosurgery in eloquent brain areas. The accuracy and sensitivity of multilingual perioperative language assessment procedures is crucial for a number of reasons: they should be appropriate to detect deficits in each of the languages spoken by the patient; they should be suitable to identify language-specific cortical regions; they should ensure that each of the languages of a multilingual patient is tested at an adequate and comparable level of difficulty. In clinical practice, a patient-tailored approach is generally preferred. This is a necessary compromise since it is impossible to predict all the possible language combinations spoken by individuals and thus the availability of standardized testing batteries is a potentially unattainable goal. On the other hand, this leads to high inconsistency in how different neurosurgical teams manage the linguistic features that determine similarity or distance between the languages spoken by the patient and that may constrain the neuroanatomical substrate of each language. The manuscript reviews the perioperative language assessment methodologies adopted in awake surgery studies on multilingual patients with brain tumor published from 1991 to 2021 and addresses the following issues: (1) The language selected for the general neuropsychological assessment of the patient. (2) The procedures adopted to assess the dimensions that may constrain language organization in multilingual speakers: age and type of acquisition, exposure, proficiency, and use of the different languages. (3) The type of preoperative language assessment used for all the languages spoken by the patient. (4) The linguistic tasks selected in the intraoperative setting. The reviewed data show a great heterogeneity in the perioperative clinical workup with multilingual patients. The only exception is the task used during language mapping, as the picture naming task is highly preferred. The review highlights that an objective and accurate description of both the linguistic profile of multilingual patients and the specific properties of the languages under scrutiny can profitably support clinical management and decision making in multilingual awake neurosurgery settings.

Contact Allergy Induced by Mango (Mangifera indica): A Relevant Topic?

Introduction: The most common clinical manifestation of mango allergy is contact dermatitis, which can be localized or systemic. The sensitising substances that have long been suspected are alk(en)yl catechols and/or alk(en)yl resorcinols. Methods: We reviewed the original articles published on Pubmed, Embase and Cochrane Library before 15 September 2021, on the topic of contact allergy induced by mango and we synthesized the key data. Results: We found 12 case reports and four case series, with a total of 37 patients. Only seven of these cases were reported in patients from mango-cultivating countries, the other 30 were from countries where mango cultivation does not occur, and 26 were also from countries where poison ivy/oak are commonly found. We found that contact dermatitis may occur on the first exposure to mango due to previous sensitisation to urushiol-containing plants. The diagnosis was confirmed by patch testing in some of the cases. There was great heterogeneity between the reagents used. Conclusion: Mango fruit is frequently consumed, but mango induced contact dermatitis, the main hypersensitivity reaction induced by mango, is rare. Further data is necessary for a better understanding of sensitising substances and, consecutively, standardization of patch test reagents.

Adaptive Localizing Region-Based Level Set for Segmentation of Maxillary Sinus Based on Convolutional Neural Networks

In this paper, we propose a novel method, an adaptive localizing region-based level set using convolutional neural network, for improving performance of maxillary sinus segmentation. The healthy sinus without lesion inside is easy for conventional algorithms. However, in practice, most of the cases are filled with lesions of great heterogeneity which lead to lower accuracy. Therefore, we provide a strategy to avoid active contour from being trapped into a nontarget area. First, features of lesion and maxillary sinus are studied using a convolutional neural network (CNN) with two convolutional and three fully connected layers in architecture. In addition, outputs of CNN are devised to evaluate possibilities of zero level set location close to lesion or not. Finally, the method estimates stable points on the contour by an interactive process. If it locates in the lesion, the point needs to be paid a certain speed compensation based on the value of possibility via CNN, assisting itself to escape from the local minima. If not, the point preserves current status till convergence. Capabilities of our method have been demonstrated on a dataset of 200 CT images with possible lesions. To illustrate the strength of our method, we evaluated it against state-of-the-art methods, FLS and CRF-FCN. For all cases, our method, as assessed by Dice similarity coefficients, performed significantly better compared with currently available methods and obtained a significant Dice improvement, 0.25 than FLS and 0.12 than CRF-FCN, respectively, on an average.

Metabolic Profile and Mycoherbicidal Activity of Three Alternaria alternata Isolates for the Control of Convolvulus arvensis, Sonchus oleraceus, and Xanthium strumarium

Alternaria alternata isolates C1, S1, and X3 were isolated respectively from the weeds Convolvulus arvensis, Sonchus oleraceus, and Xanthium strumarium in Algiers during 2016 and identified by morphological and molecular analyses. The aim of this investigation was to chemically characterize the exometabolome of these fungi and to evaluate the myco-herbicidal potential of their culture filtrates, crude extracts, or fractions towards target weeds. Results revealed a great heterogeneity in the biochemical profiles of the exometabolome with the remarkable presence of two compounds: tenuazonic acid (TeA) and triprenyl phenol-7 (SMTP-7). To the best of our knowledge, SMTP-7—found in all the isolates—as well as 12-methoxycitromycin detected in the culture filtrate of isolate C1, have never been reported to be produced by A. alternata. Some fractions of isolates C1 and S1 showed symptoms (necrosis and chlorosis) on the detached leaves of C. arvensis and S. oleraceus, respectively with up to 100% phytotoxic effect at low concentration. In conclusion, biochemical characterization revealed great difference of C1, S1, and X3 exometabolomethat is likely to explain the difference in their phytotoxic activity. Some fractions (d1, e1, h1, i1, a2, and f2) of isolates C1 and S1 of A. alternata caused severe necrosis and chlorosis on the injured detached leaves of C. arvensis and S. oleraceus, respectively.