Search results for: speech impairment

Authors: Paul D. Facey, Claire Morgan

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Speech anxiety is thought to be deep-seated within the human evolutionary lineage.As a result, almost all people display high levels of anxiety when asked to communicate in front of an audience.However, proficiency in oral communication is considered as an essential skill for a graduate career and significant emphasis is placed on developing these skills in many degree programs.Because of this, many degree schemes incorporate some form of assessed dialogic presentation. Yet, a student’s anxiety over public speaking, especially if severe, can be so great that at worst it can cause the student to withdraw from their study. This study investigated how students perceive their own levels of anxiety when faced with public speaking using the Personal Report of Public Speaking Anxiety (PRPSA) questionnaire developed by McCroskey. Additionally, students were asked to provide examples of adjustments that could be implemented that they felt would alleviate some/all of their anxiety. The results of the study indicated that the majority of the students experienced a moderate level of anxiety. However, further analysis showed that of those who were in the moderate anxiety’ group, 43% fell into the higher range suggesting that overall more students experience higher levels of anxiety when faced with public speaking than maybe first envisaged. Thus, it is essential that steps are taken to address student anxiety in order that students engage with presentations, are motivated and encouraged and do not avoid such assignments. The feedback from our students indicated a need to implement systematic desensitization programs where students learn to overcome their anxiety through a series of sessions that gradually increase their anxiety levels. Furthermore, these sessions should be run in parallel with skills sessions in order for students to be better prepared and allow self-reflection and self-analysis.This study highlights the paucity of these sessions on many degree schemes and suggests that they should form an integral part of a students’ early academic learning.

Keywords: student anxiety, communication anxiety, public speaking, higher education, desensitisation

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Authors: Saheb Yousefi, Kim T. Zebehazy, Parviz Sharifi Daramadi, Tahereh Najafi Fard, Kevin Murfitt

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Context: Children with visual impairments often face challenges in their cognitive, motor, and social development. Sensory-motor and spatial perception therapies can be beneficial for these children, but many existing programs only focus on a limited set of therapies. This study aims to investigate the effectiveness of a rehabilitation program for sensory- motor and spatial perception in reducing the fear of mobility in visually impaired children. Research Aim: The aim of this study is to determine if a rehabilitation program based on parent-child interaction can reduce the fear of mobility in visually impaired children. Methodology: This study uses a semi-experimental approach with an uneven control group design. Visually impaired children aged 10 to 14 and their parents from the Board of the Blind and Visually Impaired in Tehran Province were included in the study. The sample was divided into experimental and control groups, with a total of 30 participants. The experimental group participated in a rehabilitation program for sensory-motor and spatial perception based on parent-child interaction, while the control group did not receive this intervention. Data was collected using questionnaires on transportation issues and analyzed using multivariate and univariate mixed analysis of variance tests. Findings: The analysis of the data showed that the fear of movement was significantly improved in the experimental group compared to the control group after the intervention. Theoretical Importance: This study highlights the effectiveness of a rehabilitation program for sensory- motor and spatial perception based on parent-child interaction in reducing the fear of mobility in visually impaired children. It contributes to the existing knowledge by demonstrating the positive impact of this type of intervention on the cognitive, motor, and social development of these children. Data Collection and Analysis Procedures: Data was collected through the use of questionnaires administered to the children before and after the intervention. The data was analyzed using multivariate and univariate mixed analysis of variance tests to examine the effects of the rehabilitation program. Questions Addressed: This study addresses the question of whether a rehabilitation program based on parent-child interaction can reduce the fear of mobility in visually impaired children. Conclusion: The findings of this study support the effectiveness of the sensory-motor and spatial perception rehabilitation program based on parent-child interaction in reducing the fear of movement in visually impaired children. This intervention can be considered as a suitable method to enhance the fear of mobility in these children.

Keywords: vision impairment, sensory-motor rehabilitation, space perception, parent-child interaction, fear of movement.

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Authors: Mary Deyo, Zmara Harrison

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This study reports the outcomes of an 8-week experiential learning program for 6 adults with Intellectual and Developmental Disabilities (IDD) at a day habilitation program. The intervention foci for this program include executive function, language learning in the domains of expressive, receptive, and pragmatic language, and quality of life. The interprofessional collaboration aimed at supporting adults with IDD to reach person-centered, functional goals across skill domains is critical. This study is a significant addition to the speech-language pathology literature in that it examines a therapy method that potentially meets this need while targeting domains within the speech-language pathology scope of practice. Communication therapy was provided during highly valued and meaningful hands-on learning experiences, referred to as the Garden Club, which incorporated all aspects of planting and caring for a garden as well as related journaling, sensory, cooking, art, and technology-based activities. Direct care staff and an undergraduate research assistant were trained by SLP to be impactful language guides during their interactions with participants in the Garden Club. SLP also provided direct therapy and modeling during Garden Club. Research methods used in this study included a mixed methods analysis of a literature review, a quasi-experimental implementation of communication therapy in the context of experiential learning activities, Quality of Life participant surveys, quantitative pre- post- data collection and linear mixed model analysis, qualitative data collection with qualitative content analysis and coding for themes. Outcomes indicated overall positive changes in expressive vocabulary, following multi-step directions, sequencing, problem-solving, planning, skills for building and maintaining meaningful social relationships, and participant perception of the Garden Project’s impact on their own quality of life. Implementation of this project also highlighted supports and barriers that must be taken into consideration when planning similar projects. Overall findings support the use of experiential learning projects in day habilitation programs for adults with IDD, as well as additional research to deepen understanding of best practices, supports, and barriers for implementation of experiential learning with this population. This research provides an important contribution to research in the fields of speech-language pathology and other professions serving adults with IDD by describing an interprofessional experiential learning program with positive outcomes for executive function, language learning, and quality of life.

Keywords: experiential learning, adults, intellectual and developmental disabilities, expressive language, receptive language, pragmatic language, executive function, communication therapy, day habilitation, interprofessionalism, quality of life

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Authors: Hui-Chi Huang, Su-Ju Yang, Ching-Wei Lin, Jui-Yao Tsai, Liang-Yiang

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Background: The most common serious complication following acute stroke is pneumonia. It has been associated with the increased morbidity, mortality, and medical cost after acute stroke in elderly patients. Purpose: The aim of this retrospective study was to investigate the relationship between stroke patients, risk factors of pneumonia, and one-year survival rates in a group of patients, in a tertiary referal center in Northern Taiwan. Methods: From January 2012 to December 2013, a total of 1730 consecutively administered stroke patients were recruited. The Survival analysis and multivariate regression analyses were used to examine the predictors for the one-year survival in stroke patients of a stroke registry database from northern Taiwan. Results: The risk of stroke mortality increased with age≧ 75 (OR=2.305, p < .0001), cancer (OR=3.221, p=<.0001), stayed in intensive care unit (ICU) (OR=2.28, p <.0006), dysphagia (OR=5.026, p<.0001), without speech therapy(OR=0.192, p < .0001),serum albumin < 2.5(OR=0.322, p=.0053) , eGFR > 60(OR=0.438, p <. 0001), admission NIHSS >11(OR=1.631, p=.0196), length of hospitalization (d) > 30(OR=0.608, p=.0227), and stroke subtype (OR=0.506, p=.0032). After adjustment of confounders, pneumonia was not significantly associated with the risk of mortality. However, it is most likely to develop in patients who are age ≧ 75, dyslipidemia , coronary artery disease , albumin < 2.5 , eGFR <60 , ventilator use , stay in ICU , dysphagia, without speech therapy , urinary tract infection , Atrial fibrillation , Admission NIHSS > 11, length of hospitalization > 30(d) , stroke severity (mRS=3-5) ,stroke Conclusion: In this study, different from previous research findings, we found that elderly age, severe neurological deficit and rehabilitation therapy were significantly associated with Post-stroke Pneumonia. However, specific preventive strategies are needed to target the high risk groups to improve their long-term outcomes after acute stroke. These findings could open new avenues in the management of stroke patients.

Keywords: stroke, risk, pneumonia, survival

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Authors: Ayodele James Akinola

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This study investigated the use of English in doctor-patient interaction in a university teaching hospital from a southwestern state in Nigeria with the aim of identifying the role of communication in an L2, patterns of communication, discourse strategies, pragmatic acts, and contexts that shape the interaction. Jacob Mey’s Pragmatic Acts notion complemented with Emanuel and Emanuel’s model of doctor-patient relationship provided the theoretical standpoint. Data comprising 7 audio-recorded doctors-patient interactions were collected from a University Hospital in Oyo state, Nigeria. Interactions involving the use of English language were purposefully selected. These were supplemented with patients’ case notes and interviews conducted with doctors. Transcription was patterned alongside modified Arminen’s notations of conversation analysis. In the study, interaction in English between doctor and patients has the preponderance of direct-translation, code-mixing and switching, Nigerianism and use of cultural worldviews to express medical experience. Irrespective of these, three patterns communication, namely the paternalistic, interpretive, and deliberative were identified. These were exhibited through varying discourse strategies. The paternalistic model reflected slightly casual conversational conventions and registers. These were achieved through the pragmemic activities of situated speech acts, psychological and physical acts, via patients’ quarrel-induced acts, controlled and managed through doctors’ shared situation knowledge. All these produced empathising, pacifying, promising and instructing practs. The patients’ practs were explaining, provoking, associating and greeting in the paternalistic model. The informative model reveals the use of adjacency pairs, formal turn-taking, precise detailing, institutional talks and dialogic strategies. Through the activities of the speech, prosody and physical acts, the practs of declaring, alerting and informing were utilised by doctors, while the patients exploited adapting, requesting and selecting practs. The negotiating conversational strategy of the deliberative model featured in the speech, prosody and physical acts. In this model, practs of suggesting, teaching, persuading and convincing were utilised by the doctors. The patients deployed the practs of questioning, demanding, considering and deciding. The contextual variables revealed that other patterns (such as phatic and informative) are also used and they coalesced in the hospital within the situational and psychological contexts. However, the paternalistic model was predominantly employed by doctors with over six years in practice, while the interpretive, informative and deliberative models were found among registrar and others below six years of medical practice. Doctors’ experience, patients’ peculiarities and shared cultural knowledge influenced doctor-patient communication in the study.

Keywords: pragmatics, communication pattern, doctor-patient interaction, Nigerian hospital situation

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Authors: J. D. Temperman

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Introduction: In particular, in relation to religion, the meaning and scope of freedom of expression have been tested in recent times. This paper investigates the legal justifications for restrictions that have been suggested in this area and asks whether they are sustainable from an international human rights perspective. The universal human rights instruments, particularly the UN International Covenant on Civil and Political Rights (ICCPR), are increasingly geared towards eradicating ‘incitement’ to contingent harms like violence or discrimination, whilst forms of extreme speech that fall short of such incitement are to be protected rather than countered by states. Human Rights Committee’s draft-General Comment on freedom of expression, adopted in 2011, provides another strong indication that this is the envisaged way forward: repealing anti-blasphemy and anti-religious defamation laws, whilst simultaneously increasing efforts to combat ‘incitement’. Within regional human rights frameworks, notably the European Convention system, judgments have in fact supported legal restrictions on both hate speech, holocaust denial, and blasphemy or religious defamation. Major contributions to scholarship: This paper proposes an actus reus for the offense of ‘advocacy of religious hatred that constitutes incitement to discrimination or violence’, as enshrined in Article 20(2) of the UN ICCPR. In underscoring the high threshold of ‘incitement’, the author distinguishes this offense from such notions as ‘blasphemy’ or ‘defamation of religions’. In addition to treating the said provision as a sui generis prohibition, the question is addresses whether a ‘right to be protected against incitement’ may be distilled from the ICCPR. Furthermore, the author will discuss the question of how to judge incitement; notably, is mens rea required to convict someone of incitement, and if so, what degree of mens rea? This analysis also includes the question how to balance content and context factors when addressing alleged instances of incitement, notably what factors make provide for a likelihood that imminent acts of violence or discrimination will ensue from an inciteful speech act? Methodology: This paper takes a double comparative approach: (i) it endeavours to compare and contrast monitoring bodies’ approach to incitement (notably, the UN Human Rights Committee, but also the UN Committee on the Elimination of Racial Discrimination which monitors states’ compliance with Article 4 of ICERD on incitement); and (ii) it endeavours to chart and compare and analyse from an international human rights perspective recent forms of state practice in the field of dealing with incitement (i.e. a comparative legal analysis and vertical human rights analysis of newly emerging incitement legislation in the light of the said international standards). Conclusion: This paper conceptualizes a legal notion – ‘incitement’ – encapsulated in international human rights law that may have a profound bearing on contemporary challenges of radicalization and religious strife.

Keywords: incitement, international human rights law, religious hatred, violence

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Authors: Chung-Yuan Wang, Min Hsu, Bo-Ya Juan, Hsiv Ching Lin, Hsveh Min Lin, Hsiu-Fang Yeh

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The success of Taiwan's National Health Insurance (NHI) system attracts widespread praise from the international society. However, the availability of medical care in a emote area is limited. Without the convenient public transportation system and mature social welfare policy, these people are difficult to regain their health and prevent disability. Preterm children have more risk to get development delay. Preterm children in a remote area have the human right to get rehabilitation resources as those in the city area. Therefore, the aim of this study was to show the importance of development screening to preterm children in a remote area and a tract the government to notice the issue. In Pingtung, children who are suspected development delay would be suggested to take a skillful screening evaluation in our hospital. Those preterm children (within 1-year-old) visited our pediatric clinic would also be referred to take the development evaluation. After the physiatrist’s systemic evaluation, the subjects would be scheduled to take the development evaluation. Gross motor, fine motor, speech comprehension/expression and mental study were included. The evaluation was in-charged by a physical therapist, occupational therapy, speech therapist and pediatric psychologist. The tools were Peabody developmental scale, Bayley Scales of Infant and Toddler Development (Bayley-III) and Wechsler Preschool & Primary Scale of Intelligence-Revised (WPPSI-R). In 2013, 459 children received the service in our hospital. Among these children, fifty-seven were noted with preterm baby history (gestation within 37 weeks). Thirty-six of these preterm children, who had never receive development evaluation, were included in this study. Thirty-six subjects (twenty-six male and ten female) were included. Nineteen subjects were found development delay. Six subjects were found suspected development delay. In gross motor, six subjects were development delay and eight were suspected development delay. In fine motor, five subjects were development delay and three were suspected development delay. In speech, sixteen subjects were development delay and six were suspected development delay. In our study, through the provision of development evaluation service, 72.2% preterm baby were found their development delay or suspected delay. They need further early intervention rehabilitation service. We made their parents realize that when development delay was recognized at the early stage, they are often reversible. No only the patients but also their families were improved their health status. The number of the subjects was limited in our study. Further study might be needed. Compared with 770 physical therapist (PT) and 370 occupational therapy (OT) in Taipei, there are only 108 PT and 54 OT in Pingtung. Further, there are much fewer therapists working on the field of pediatric rehabilitation. Living healthy is a human's right, no matter where does he live. For those development delay children in remote area, particularly preterm children, early detection, and early intervention rehabilitation service could play an important role in decreasing their disability and improving their quality of life. Through this study, we suggest the government to add more national resources on the development evaluation to preterm children in a remote area.

Keywords: development, early intervention, preterm children, rehabilitation

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Authors: Mohammed Abu Shquier

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This paper introduces a word segmentation method using the novel BP-LSTM-CRF architecture for processing semantic output training. The objective of web morphological analysis tools is to link a formal morpho-syntactic description to a lemma, along with morpho-syntactic information, a vocalized form, a vocalized analysis with morpho-syntactic information, and a list of paradigms. A key objective is to continuously enhance the proposed system through an inductive learning approach that considers semantic influences. The system is currently under construction and development based on data-driven learning. To evaluate the tool, an experiment on homograph analysis was conducted. The tool also encompasses the assumption of deep binary segmentation hypotheses, the arbitrary choice of trigram or n-gram continuation probabilities, language limitations, and morphology for both Modern Standard Arabic (MSA) and Dialectal Arabic (DA), which provide justification for updating this system. Most Arabic word analysis systems are based on the phonotactic morpho-syntactic analysis of a word transmitted using lexical rules, which are mainly used in MENA language technology tools, without taking into account contextual or semantic morphological implications. Therefore, it is necessary to have an automatic analysis tool taking into account the word sense and not only the morpho-syntactic category. Moreover, they are also based on statistical/stochastic models. These stochastic models, such as HMMs, have shown their effectiveness in different NLP applications: part-of-speech tagging, machine translation, speech recognition, etc. As an extension, we focus on language modeling using Recurrent Neural Network (RNN); given that morphological analysis coverage was very low in dialectal Arabic, it is significantly important to investigate deeply how the dialect data influence the accuracy of these approaches by developing dialectal morphological processing tools to show that dialectal variability can support to improve analysis.

Keywords: NLP, DL, ML, analyser, MSA, RNN, CNN

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Authors: Manali Chakraborty

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In the developing countries the most prevalent pathological state is malnutrition and under nutrition due to deficiency of essential nutrients. This condition is more seen between the woman population, especially in the adolescent girls. It is causing childhood deaths along with others cognitive, degenerative diseases. Born of low weight babies and stillbirth are also major problems associated with the malnutrition. Along with the increased level of population, people not only should concern about their quantity of food but also for the quality of the food to be healthy. Lethargy, depression caused due to iron deficiency often quoted as normal or unimportant issues. Children of malnourished women are more likely associated with cognitive impairment, immune dysfunction leading to a higher risk of being attacked by diseases. Malnourishment also affects the productivity of women. Low social status, lack of proper nutritional education is an important cause of this nutrient deficiency among women. Iron deficiency and anemia are mostly famous nutritional deficiencies among women worldwide. Mostly women from below poverty lined area are anemic due to less consumption of iron-rich foods or having foods that might inhibit the iron absorption. Growing females like adolescents or lactating females need more iron supply. Less supplement causes iron deficiency. Though malaria also might cause anemia, it is more likely endemic one in some specific areas. Folate deficiency in females also may cause neurological defects in the infants. Other Vitamin B, A deficiencies along with low iodine level is also noted in malnourished women. According to tradition, still in some areas in developing countries females have their food at the end. According to some survey and collected data, these females are often into the risk zone of being malnourished. Regularly they have the very lesser amount, or food sometimes may start to lose its nutrients. Women are the one who maintains the responsibility to cook foods in the home. Lack of proper nutritional education and proper food preparation not only make those foods lose the nutrients leading to impairment in proper nutrient intake of the family members but also impairing own nutritional status. Formulation and development of food products from iron or other nutrient affluent sources viz., traditional herbs can be helpful in the prevention of such malnutrition condition in females. Keeping low cost and smooth maintenance of the food product development from the natural sources like pulses, cereals or other vegetation also can be beneficial to sustain socio-economic condition. Consumption of such kind of foodstuff is much healthier rather than taking continuous supplements like capsules. Utilization of proper scientific and cost-effective techniques for this food product development and their distribution among rural women population might be an enormous initiative.

Keywords: anemia, food supplements, malnutrition, rural places, women population

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Authors: Rajlakshmi Guha, Sajjad Ansari, Shazia Nasreen, Hirak Banerjee, Jiaul Paik

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Dyslexia is a neurocognitive disorder, affecting around fifteen percent of the Indian population. The symptoms include difficulty in reading alphabet, words, and sentences. This can be difficult at the phonemic or recognition level and may further affect lexical structures. Therapeutic intervention of dyslexic children post assessment is generally done by special educators and psychologists through one on one interaction. Considering the large number of children affected and the scarcity of experts, access to care is limited in India. Moreover, unavailability of resources and timely communication with caregivers add on to the problem of proper intervention. With the development of Educational Technology and its use in India, access to information and care has been improved in such a large and diverse country. In this context, this paper proposes an ICT enabled home-based intervention program for dyslexic children which would support the child, and provide an interactive interface between expert, parents, and students. The paper discusses the details of the database design and system layout of the program. Along with, it also highlights the development of different technical aids required to build out personalized android applications for the Indian dyslexic population. These technical aids include speech database creation for children, automatic speech recognition system, serious game development, and color coded fonts. The paper also emphasizes the games developed to assist the dyslexic child on cognitive training primarily for attention, working memory, and spatial reasoning. In addition, it talks about the specific elements of the interactive intervention tool that makes it effective for home based intervention of dyslexia.

Keywords: Android applications, cognitive training, dyslexia, intervention

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Authors: Gustavo Axel Elizalde-Velázquez

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Metformin is the first line of oral therapy to treat type II diabetes and is also employed as a treatment for other indications, such as polycystic ovary syndrome, cancer, and COVID-19. Recent data suggest it is the aspirin of the 21st century due to its antioxidant and anti-aging effects. However, increasingly current articles indicate its long-term consumption generates mitochondrial impairment. Up to date, it is known metformin increases the biogenesis of Alzheimer's amyloid peptides via up-regulating BACE1 transcription, but further information related to brain damage after its consumption is missing. Bearing in mind the above, this work aimed to establish whether or not chronic exposure to metformin may alter swimming behavior and induce neurotoxicity in Danio rerio adults. For this purpose, 250 Danio rerio grown-ups were assigned to six tanks of 50 L of capacity. Four of the six systems contained 50 fish, while the remaining two had 25 fish (≈1 male:1 female ratio). Every system with 50 fish was allocated one of the three metformin treatment concentrations (1, 20, and 40 μg/L), with one system as the control treatment. Systems with 25 fish, on the other hand, were used as positive controls for acetylcholinesterase (10 μg/L of Atrazine) and oxidative stress (3 μg/L of Atrazine). After four months of exposure, a mean of 32 fish (S.D. ± 2) per group of MET treatment survived, which were used for the evaluation of behavior with the Novel Tank test. Moreover, after the behavioral assessment, we aimed to collect the blood and brains of all fish from all treatment groups. For blood collection, fish were anesthetized with an MS-222 solution (150 mg/L), while for brain gathering, fish were euthanized using the hypothermic shock method (2–4 °C). Blood was employed to determine CASP3 activity and the percentage of apoptotic cells with the TUNEL assay, and brains were used to evaluate acetylcholinesterase activity, oxidative damage, and gene expression. After chronic exposure, MET-exposed fish exhibited less swimming activity when compared to control fish. Moreover, compared with the control group, MET significantly inhibited the activity of AChE and induced oxidative damage in the brain of fish. Concerning gene expression, MET significantly upregulated the expression of Nrf1, Nrf2, BAX, p53, BACE1, APP, PSEN1, and downregulated CASP3 and CASP9. Although MET did not overexpress the CASP3 gene, we saw a meaningful rise in the activity of this enzyme in the blood of fish exposed to MET compared to the control group, which we then confirmed by a high number of apoptotic cells in the TUNEL assay. To the best of our understanding, this is the first study that delivers evidence of oxidative impairment, apoptosis, AChE alteration, and overexpression of B- amyloid-related genes in the brain of fish exposed to metformin.

Keywords: AChE inhibition, CASP3 activity, NovelTank test, oxidative damage, TUNEL assay

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Authors: Garima Joshi, Ashima N. Wadhawan

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Neuropsychology in India is a fairly new field, having started only four decades back. Neuropsychology has come a long way since the establishment of the first department, from using western batteries for assessing patients to the development of highly reliable indigenous tools for assessing neuropsychological functioning. Clinical neuropsychology has risen as a discipline in the field of assessing and rehabilitating patients with various neurological conditions such as Traumatic Brain Injury, Stroke, Mild Cognitive Impairment, Alzheimer’s, Schizophrenia and other disorders with cognitive decline. The current review attempts to assimilate the history of the discipline in India, along with the current developments and future direction of the field and highlights the pursuit and undertakings of the scientists to provide culturally appropriate services, in terms of assessment and rehabilitation, to the Indian population.

Keywords: clinical neuropsychology, cognitive assessment, cognitive rehabilitation, neuropsychological test batteries in India

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Authors: Deyu Yuan

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Discourse analysis as an interdisciplinary approach has more than 60-years-history since it was first named by Zellig Harris in 'Discourse Analysis' on Language in 1952. Ferdinand de Saussure differentiated the 'parole' from the 'langue' that established the principle of focusing on language but not speech. So the rising of discourse analysis can be seen as a discursive turn for the entire language research that closely related to the theory of Speech act. Critical discourse analysis becomes the mainstream of contemporary language research through drawing upon M. A. K. Halliday's socio-semiotic theory and Foucault, Barthes, Bourdieu's views on the sign, discourse, and ideology. So in contrast to general semiotics, social semiotics mainly focuses on parole and the application of semiotic theories to some applicable fields. The article attempts to discuss this applicable sociosemiotics and show the features of it that differ from the Saussurian and Peircian semiotics in four aspects: 1) the sign system is about meaning-generation resource in the social context; 2) the sign system conforms to social and cultural changes with the form of metaphor and connotation; 3) sociosemiotics concerns about five applicable principles including the personal authority principle, non-personal authority principle, consistency principle, model demonstration principle, the expertise principle to deepen specific communication; 4) the study of symbolic functions is targeted to the characteristics of ideational, interpersonal and interactional function in social communication process. Then the paper describes six features which characterize this sociosemiotics as applicable semiotics: social, systematic, usable interdisciplinary, dynamic, and multi-modal characteristics. Thirdly, the paper explores the multi-modal choices of sociosemiotics in the respects of genre, discourse, and style. Finally, the paper discusses the relationship between theory and practice in social semiotics and proposes a relatively comprehensive theoretical framework for social semiotics as applicable semiotics.

Keywords: discourse analysis, sociosemiotics, pragmatics, ideology

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Authors: Catarina Belchior, Catarina Martins, Sara Mendes, Ana Rita S. Valente, Elsa Marta Soares

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Introduction: The negative feelings and attitudes that a person who stutters can develop are extremely relevant when considering assessment and intervention in Speech and Language Therapy. This relates to the fact that the person who stutters can experience feelings such as shame, fear and negative beliefs when communicating. Considering the complexity and importance of integrating diverse aspects in stuttering intervention, it is central to identify those emotions as early as possible. Therefore, this research aimed to achieve the translation, adaptation to European Portuguese and to analyze the content validation of the Preschooler Awareness Stuttering Survey (Abbiati, Guitar & Hutchins, 2015), an instrument that allows the assessment of the impact of stuttering on preschool children who stutter considering feelings and attitudes. Methodology: Cross-sectional descriptive qualitative research. The following methodological procedures were followed: translation, back-translation, panel of experts and pilot study. This abstract describes the results of the first three phases of this process. The translation was accomplished by two Speech Language Therapists (SLT). Both professionals have more than five years of experience and are users of English language. One of them has a broad experience in the field of stuttering. Back-translation was conducted by two bilingual individuals without experience in health or any knowledge about the instrument. The panel of experts was composed by 3 different SLT, experts in the field of stuttering. Results and Discussion: In the translation and back-translation process it was possible to verify differences in semantic and idiomatic equivalences of several concepts and expressions, as well as the need to include new information to enhance the understanding of the application of the instrument. The meeting between the two translators and the researchers allowed the achievement of a consensus version that was used in back-translation. Considering adaptation and content validation, the main change made by the experts was the conceptual equivalence of the questions and answers of the instrument's sheets. Considering that in the translated consensus version the questions began with various nouns such as 'is' or 'the cow' and that the answers did not contain the adverb 'much' as in the original instrument, the panel agreed that it would be more appropriate if the questions all started with 'how' and that all the answers should present the adverb 'much'. This decision was made to ensure that the translate instrument would be similar to the original and so that the results obtained could be comparable between the original and the translated instrument. There was also elaborated one semantic equivalence between concepts. The panel of experts found that all other items and specificities of the instrument were adequate, concluding the adequacy of the instrument considering its objectives and its intended target population. Conclusion: This research aspires to diversify the existing validated resources in this scope, adding a new instrument that allows the assessment of preschool children who stutter. Consequently, it is hoped that this instrument will provide a real and reliable assessment that can lead to an appropriate therapeutic intervention according to the characteristics and needs of each child.

Keywords: stuttering, assessment, feelings and attitudes, speech language therapy

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Authors: Simont Toussi

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Cameroon and the Central African Republic arebound by the provisions of many regional and international charters, which condemn the manipulation of information, obstacles to access reliable information, or the limitation of freedoms of expression and opinion. These two countries also have constitutional guarantees for free speech and access to true and liable information. However, they are yet to define specific policies and regulations for access to information, disinformation, or misinformation. Yet, certain countries’ laws and regulations related to information and communication technologies, to criminal procedures, to terrorism, or intelligence services contain provisions that rather hider human rights by condemning false information. Like many other African countries, Cameroon and the Central African Republic face a profound democratic regression, and governments use multiple methods to stifle online discourse and digital rights. Despite the increased uptake of digital tools for political participation, there is a lack of interactivity and adoption of these tools. This enables a scarcity of information and creates room for the spreading of disinformation in the public space, hamperingdemocracy and the respect for human rights. This research aims to analyse the adequacy of stakeholders’ responses to disinformation in Cameroon and the Central African Republic in periods of political contestation, such as elections and anti-government protests, to highlight the nature, perpetrators, strategies, and channels of disinformation, as well as its effects on democratic actors, including civil society, bloggers, government critics, activists, and other human rights defenders. The study follows a qualitative method with literature review, content analysis, andkey informant’sinterviews with stakeholders’ representatives, emphasized crowdsourcing as a data and information collecting method in the two countries.

Keywords: disinformation, democracy, political manipulation, social media, media, fake news, central Africa, cameroon, misinformation, free speech

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Authors: Carmela Perta

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In Italy the coexistence of standard language, its varieties and different minority languages - historical and migration languages - has been a way to study language contact in different directions; the focus of most of the studies is either the relations among the languages of the social repertoire, or the study of contact phenomena occurring in a particular structural level. However, studies on contact facts in relation to a given sociolinguistic situation of the speech community are still not present in literature. As regard the language level to investigate from the perspective of contact, it is commonly claimed that the lexicon is the most volatile part of language and most likely to undergo change due to superstrate influence, indeed first lexical features are borrowed, then, under long term cultural pressure, structural features may also be borrowed. The aim of this paper is to analyse language contact in two historical minority communities where Francoprovençal is spoken, in relation to their sociolinguistic situation. In this perspective, firstly lexical borrowings present in speakers’ speech production will be examined, trying to find a possible correlation between this part of the lexicon and informants’ sociolinguistic variables; secondly a possible correlation between a particular community sociolinguistic situation and lexical borrowing will be found. Methods used to collect data are based on the results obtained from 24 speakers in both the villages; the speaker group in the two communities consisted of 3 males and 3 females in each of four age groups, ranging in age from 9 to 85, and then divided into five groups according to their occupations. Speakers were asked to describe a sequence of pictures naming common objects and then describing scenes when they used these objects: they are common objects, frequently pronounced and belonging to semantic areas which are usually resistant and which are thought to survive. A subset of this task, involving 19 items with Italian source is examined here: in order to determine the significance of the independent variables (social factors) on the dependent variable (lexical variation) the statistical package SPSS, particularly the linear regression, was used.

Keywords: borrowing, Francoprovençal, language change, lexicon

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Authors: Sidika Di̇lşad Kaya, Ahmet Seli̇m Kaya, Ibrahi̇m Eri̇k, Havva Yaldiz, Yalçin Kaya

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The aim of this study was to reveal the effects of right brain development on reading, comprehension, learning and concentration levels and rapid processing skills in students with low vision and students with standard development, and to explore the effects of right and left brain integration on students' academic success and the permanence of the learned knowledge. A total of 68 students with a mean age of 10.01±0.12 were included in the study, 58 of them with standard development, 9 partially visually impaired and 1 totally visually disabled student. The student with a total visual impairment could not participate in the reading speed test due to her total visual impairment. The following data were measured in the participant students before the project; Reading speed measurement in 1 minute, Reading comprehension questions, Burdon attention test, 50 questions of math quiz timed with a stopwatch. Participants were trained for 3 weeks, 5 days a week, for a total of two hours a day. In this study, right-brain developing exercises were carried out with the use of an abacus, and it was aimed to develop both mathematical and attention of students with questions prepared with numerical data taken from fairy tale activities. Among these problems, the study was supported with multiple-choice, 5W (what, where, who, why, when?), 1H (how?) questions along with true-false and fill-in-the-blank activities. By using memory cards, students' short-term memories were strengthened, photographic memory studies were conducted and their visual intelligence was supported. Auditory intelligence was supported by aiming to make calculations by using the abacus in the minds of the students with the numbers given aurally. When calculating the numbers by touching the real abacus, the development of students' tactile intelligence is enhanced. Research findings were analyzed in SPSS program, Kolmogorov Smirnov test was used for normality analysis. Since the variables did not show normal distribution, Wilcoxon test, one of the non-parametric tests, was used to compare the dependent groups. Statistical significance level was accepted as 0.05. The reading speed of the participants was 83.54±33.03 in the pre-test and 116.25±38.49 in the post-test. Narration pre-test 69.71±25.04 post-test 97.06±6.70; BURDON pretest 84.46±14.35 posttest 95.75±5.67; rapid math processing skills pretest 90.65±10.93, posttest 98.18±2.63 (P<0.05). It was determined that the pre-test and post-test averages of students with typical development and students with low vision were also significant for all four values (p<0.05). As a result of the data obtained from the participants, it is seen that the study was effective in terms of measurement parameters, and the findings were statistically significant. Therefore, it is recommended to use the method widely.

Keywords: Abacus, reading speed, multiple intelligences, right brain training, visually impaired

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Authors: Angela Maria Sarmiento

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Since the end of the 19th century, the Bora people struggled to survive two stages of colonial domination, which resulted in situations of forced contact with the Western world. Their inclusion in global designs altered the configuration of their local spaces and social practices; thus the Bora language was affected and prone to transformation. This descriptive, interpretive study, within the indigenous and minoritized groups’ research field, aimed at analysing the linguistic attitudes as well as the contextual situation of the Bora language in Providencia, an ancestral territory and a speech community contained in the midst of the Colombian Amazon rainforest. Through the inquiry of their sociolinguistic practices, this study also considered the effects of the course of events derived from the rubber exploitation in the late 19th century, and the arrival of the Capuchin’s mission in the early 20th century. The methodology used in this study had an ethnographic approach, which allowed the researcher to study the social phenomena from the perspective of the participants. Fieldwork, diary, field notes, and semi-structured interviews were conducted and then triangulated with participant observations. The findings of this study suggest that there is a transition from current individual bilingualism towards Spanish monolingualism; this is enhanced by the absence of a functional distribution of the three varieties (Bora, Huitoto, and Spanish). Also, the positive attitudes towards the Spanish language are based on its functionality while positive attitudes towards the Bora language mostly refer to pride and identity. Negative attitudes are only directed towards the Bora language. In the search for the roots of these negative attitudes, appeared the traumatic experiences of the rubber exploitation and the indigenous experiences at the capuchin’s boarding school. Finally, the situation of the Bora language can be configured as a social fact strongly connected to previous years of colonial dominations and to the current and continuous incursion of new global-colonial designs.

Keywords: Bora language, language contact, linguistic attitudes, speech communities

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Authors: Diego Luján Villarreal

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Retinal prosthetic devices aim to repair some vision in visual impairment patients by stimulating electrically neural cells in the visual system. In this study, the 3D linear electrode carrier is presented. A simulation framework was developed by placing the 3D carrier 1 mm away from the fovea center at the highest-density cell. Cell stimulation is verified in COMSOL Multiphysics by developing a 3D computational model which includes the relevant retinal interface elements and dynamics of the voltage-gated ionic channels. Current distribution resulting from low threshold amplitudes produces a small volume equivalent to the volume confined by individual cells at the highest-density cell using small-sized electrodes. Delicate retinal tissue is protected by excessive charge density

Keywords: retinal prosthetic devices, visual devices, retinal implants., visual prosthetic devices

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Authors: Samaneh serraj

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Listening anxiety has a detrimental effect on language learners. Through a qualitative study on Iranian EFL learners several factors were identified as having influence on their listening anxiety. These factors were divided into three categories, i.e. individual factors (nerves and emotionality, using inappropriate strategies and lack of practice), input factors (lack of time to process, lack of visual support, nature of speech and level of difficulty) and environmental factors (instructors, peers and class environment).

Keywords: listening Comprehension, Listening Anxiety, Foreign language learners

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Authors: Wu Liching

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Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future.

Keywords: acute stroke, MELAS, lactic acidosis, mitochondrial disorders

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Authors: Ibrahim Darwish, Noora Abu Ain

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Referring to female relatives by male Jordanian speakers in public is governed by various linguistic and social constraints. Although Jordanian society is less conservative than it was a few decades ago, women are still considered the weaker link in society and men still believe that they need to protect them. Conservative Jordanians often avoid referring to their female relatives overtly, i.e., using their real names. Instead, they use covert names, such as pseudonyms, nicknames, pet names, etc. The reason behind such language use has to do with how Arab men, in general, see women as part of their honor. This study intends to investigate to what extent Jordanian males hide their female relatives’ names in public domains. The data was collected from spontaneous informal voice-recorded interviews carried out in the village of Saham in the far north of Jordan. Saham’s dialect is part of a larger Horani dialect used by speakers along a wide area that stretches from Salt in the south to the Syrian borders in the north of Jordan. The voice-recorded interviews were originally carried out as an audio record of some customs and traditions in the village of Saham in 2013. During most of these interviews, the researchers observed how the male participants indirectly referred to their female relatives. Instead of using real names, the male speakers used broad terms to refer to their female relatives, such al-Beit ‘the home,’ al-ciyaal ‘the kids’, um-x ‘the mother of x,’ etc. All tokens related to the issue in question were collected, analyzed and quantified about three age cohorts: young, middle-aged and old speakers. The results show that young speakers are more direct in referring to their female relatives than the other two age groups. This can point to a possible change in progress in the speech community of Saham. It is argued that due to contact with other urban speech communities, the young speakers in Saham do not feel the need to hide the real names of their female relatives as they consider them as equals. Indeed, the young generation is more open to the idea of women's rights and call for expanding Jordanian women’s roles in Jordanian society.

Keywords: gender differences, Horan, proper names, social constraints

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Authors: Sumeet Dwivedi, Shweta Shriwas, Raghvendra Dubey

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Madhya Pradesh, a Central State of India is rich in natural heritage due to tribal impact. Herbal harmony present either cultivated or by naturally being used by the tribes of the state in the treatment of several human and animal disorders. Diseases of ear, nose and throat (ENT) often have serious consequences including hearing impairment, and emotional strain that lower the quality of life of patients. Traditional phytotherapy have now been found to be instrumental in improving chances of discovering plants with antimicrobial activity in new drug development. The present paper enumerates the uses of ten herbs viz., garlic, eucalyptus, marigold, tulsi, euphorbia, lemon grass, haldi, bhringraj, ginger and ajwain. An attempt has also been made to reveal the method of preparation, dose, duration possible MOA of these herbs used for ENT disorders.

Keywords: ENT, traditional phytotherapy, herbs, Madhya Pradesh

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Authors: T. Bryan , V. Kepuska, I. Kostnaic

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A method of data compression and denoising is introduced that is based on atomic decomposition of audio data using “basis vectors” that are learned from the audio data itself. The basis vectors are shown to have higher data compression and better signal-to-noise enhancement than the Gabor and gammatone “seed atoms” that were used to generate them. The basis vectors are the input weights of a Sparse AutoEncoder (SAE) that is trained using “envelope samples” of windowed segments of the audio data. The envelope samples are extracted from the audio data by performing atomic decomposition with Gabor or gammatone seed atoms. This process identifies segments of audio data that are locally coherent with the seed atoms. Envelope samples are extracted by identifying locally coherent audio data segments with Gabor or gammatone seed atoms, found by matching pursuit. The envelope samples are formed by taking the kronecker products of the atomic envelopes with the locally coherent data segments. Oracle signal-to-noise ratio (SNR) verses data compression curves are generated for the seed atoms as well as the basis vectors learned from Gabor and gammatone seed atoms. SNR data compression curves are generated for speech signals as well as early American music recordings. The basis vectors are shown to have higher denoising capability for data compression rates ranging from 90% to 99.84% for speech as well as music. Envelope samples are displayed as images by folding the time series into column vectors. This display method is used to compare of the output of the SAE with the envelope samples that produced them. The basis vectors are also displayed as images. Sparsity is shown to play an important role in producing the highest denoising basis vectors.

Keywords: sparse dictionary learning, autoencoder, sparse autoencoder, basis vectors, atomic decomposition, envelope sampling, envelope samples, Gabor, gammatone, matching pursuit

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Authors: Yoon-Cheol Park

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This research focuses on examining the Chinese character-Korean language translation of the Vajrachedika-prajna-paramita sutra by a pragmatic approach. The background of this research is that there were no previous researches which looked into the Vajrachedika-prajna-paramita translation by pragmatic approach until now. Even though it is composed of conversational structures between Buddha and his disciple unlike other Buddhist sutras, most of its translation could find the traces to have pursued literal translation and still has now overlooked pragmatic elements in it. Accordingly, it is meaningful to examine the messages through speaker and hearer relation and between speaker intention and utterance meaning. Practically, the Vajrachedika-prajna-paramita sutra includes pragmatic elements, such as speech acts, presupposition, conversational implicature, the cooperative principle and politeness. First, speech acts in its sutra text show the translation to reveal obvious performance meanings of language to the target text. And presupposition in their dialogues is conveyed by paraphrasing or substituting abstruse language with easy expressions. Conversational implicature in utterances makes it possible to understand the meanings of holy words by relying on utterance contexts. In particular, relevance results in an increase of readability in the translation owing to previous utterance contexts. Finally, politeness in the target text is conveyed with natural stylistics through the honorific system of the Korean language. These elements mean that the pragmatic approach can function as a useful device in conveying holy words in a specific, practical and direct way depending on utterance contexts. Therefore, we expect that taking a pragmatic approach in translating the Vajrachedika-prajna-paramita sutra will provide a theoretical foundation for seeking better translation methods than the literal translations of the past. And it implies that the translation of Buddhist sutra needs to convey messages by translation methods which take into account the characteristic of sutra text like the Vajrachedika-prajna-paramita.

Keywords: buddhist sutra, Chinese character-Korean language translation, pragmatic approach, utterance context

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Authors: Shruti Hajirnis

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In May 2014, FASB issued Accounting Standards Update (ASU) 2014-09, Revenue from Contracts with Customers (Topic 606), and the International Accounting Standards Board (IASB) issued International Financial Reporting Standards (IFRS) 15, Revenue from Contracts with Customers that will supersede virtually all revenue recognition requirements in IFRS and US GAAP. FASB and the IASB have basically achieved convergence with these standards, with only some minor differences such as collectability threshold, interim disclosure requirements, early application and effective date, impairment loss reversal and nonpublic entity requirements. This paper discusses the impact of five-step model prescribed in new revenue standard on the entities operating in Pharma industry. It also outlines the considerations for these entities while implementing the new standard.

Keywords: revenue recognition, pharma industry, standard, requirements

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Authors: K. R. Roopesh Bharatwaj, Avinash Maharana, Favour Tobi Aborisade, Roger Young

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Presently, there are few cases of complete automation of drones and its allied intelligence capabilities. In essence, the potential of the drone has not yet been fully utilized. This paper presents feasible methods to build an intelligent drone with smart capabilities such as self-driving, and obstacle avoidance. It does this through advanced Reinforcement Learning Techniques and performs object detection using latest advanced algorithms, which are capable of processing light weight models with fast training in real time instances. For the scope of this paper, after researching on the various algorithms and comparing them, we finally implemented the Deep-Q-Networks (DQN) algorithm in the AirSim Simulator. In future works, we plan to implement further advanced self-driving and object detection algorithms, we also plan to implement voice-based speech recognition for the entire drone operation which would provide an option of speech communication between users (People) and the drone in the time of unavoidable circumstances. Thus, making drones an interactive intelligent Robotic Voice Enabled Service Assistant. This proposed drone has a wide scope of usability and is applicable in scenarios such as Disaster management, Air Transport of essentials, Agriculture, Manufacturing, Monitoring people movements in public area, and Defense. Also discussed, is the entire drone communication based on the satellite broadband Internet technology for faster computation and seamless communication service for uninterrupted network during disasters and remote location operations. This paper will explain the feasible algorithms required to go about achieving this goal and is more of a reference paper for future researchers going down this path.

Keywords: convolution neural network, natural language processing, obstacle avoidance, satellite broadband technology, self-driving

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Authors: Yang Jiayue, Liang Junwen

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Case interviews with 12 mothers of hearing-impaired children in Beijing found that families with hard-of-hearing children make all-out efforts for rescue and rehabilitation until they exhaust family resources, they travel to work places, homes, and rehabilitation institutions every day, and social relations gradually shrink inward. In the stigmatized social environment, children with hearing impairment find it difficult to integrate into regular communication and gradually return to a silent world; their parents also suffer from social discrimination and affiliate stigma, and they gradually reduce contact with others. Finally, families with hearing-impaired children become invisible people in society; the "deafness" of children leads families to "loss of voice."

Keywords: family with hearing-impaired children, social retreat, social exclusion, stigma

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Authors: Wandera Stephen Ojumbo

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People living with hearing impairment in Uganda are one of the most excluded minority groups in the country. The Uganda National Association of the Deaf estimates that deaf people make up 3.4% of Uganda’s 43 million people. Deaf Children and youth often appear withdrawn because they face social stigma. In 2009, photojournalist Stephen Wandera Ojumbo conducted an exhibition in Kampala titled “Silent Voices with colourful Hearts” showcasing the life of deaf children at Uganda School for the Deaf, Ntinda, in order to create awareness of their plight, raising funds for the construction of a vocational centre for the deaf that didn’t continue their education due to: lack of funds, non-inclusive educational institutions, and for those who cannot read and write. These children, whose lives were exhibited in 2009, are currently youths. In Uganda, there are just five primary schools for the deaf (three of these are located in Kampala, the capital city), and barely five secondary schools for the deaf. At the moment, some deaf children only receive special needs training equivalent to primary seven levels and the majority don’t make it to secondary school education level due to the fact that English is a second language to them. There is a communication gap between speaking parents and deaf children, which leads to the breakage of family bonds. The deaf youth run away from their homes to form a community where they can communicate freely. Likewise, employment opportunities for the deaf are equally very limited. It’s for this reason that a follow-up photo exhibition was conducted to expose more about what the youthful deaf people and their guardians go through in Uganda to get jobs, live and fit in the community, how they communicate and get understood, bonding with families instead of running away to bond with fellow deaf persons. The photo exhibition under the theme “Loud Silence” was significant in showcasing the ability of deaf youths in Uganda and eliciting solutions to make a more inclusive society for the deaf. It is hoped that partners in development will join in for intervention. The methodology used included individual interviews with the deaf youth and their parents and caretakers; photography at household and community levels; document review at organizations working with the deaf; observations; and key informant interviews with relevant personnel working with the deaf. Some of the major findings include: i) Effective sign language communication is key in deaf education, family bonding, and developing a sense of belonging; ii) Love and intimacy can keep the deaf bound together; iii) Education is important; everybody should struggle even if alone; iv) Games and sports are a unifying factor and most loved among the deaf; and v) better communication skills build confidence in deaf youth. In conclusion, concerted efforts are still needed to make Uganda schools more inclusive for deaf persons. This will enable a secure future for deaf youths.

Keywords: deaf, education, excluded, photo exhibition

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Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

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