UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

Persuading the Public : A Linguistic Analysis of Barack Obama’s Speech on “Super Tuesday” 2008

This essay examines the persuasive side of language in a speech given by Senator Barack Obama on Super Tuesday in February 2008. It studies how Senator Obama utilizes language to convince and persuade his audience. This is done from an Aristotelian point of view, meaning that the study focuses foremost on how the senator’s word choices relate to Aristotle’s three means of persuasion, ethos, pathos and logos. Those basic guiding principles are relevant to use since Aristotle’s work on the subject of rhetoric is still today one of the most relevant works in that field. The analysis is basically performed through personal observations guided by previous studies, within the frame of Aristotelian rhetoric. The results show how Senator Obama enforces the three means of persuasion through language and how it can be considered persuasive. The study might add to rhetoric studies from a linguistic perspective since it reaches a better understanding of language used in the field of politics, where rhetoric is a prominent component.

Interaction and Persuasion:An analysis of the use of rhetorical devices in Gordon Brown's speech to the Labour Party Conference, on September 25, 2006

This essay has identified and analysed rhetorical devices in Gordon Brown’s speech delivered at the Labour Party conference on September 25, 2006. The aim of the study was to identify specific rhetorical devices which are described as interactional resources, analyse their uses and discuss possible effects that they may have when included in a political speech. The results are based on my own interpretations but are supported by information provided in current literature by analysts and researchers of rhetoric use. The result findings could probably serve as evidence of the need for better understanding of the devices used by politicians in their relentless endeavours to influence audience decisions.

Speech Assessment for the Classification of Hypokinetic Dysthria in Parkinson Disease

The aim of this thesis is to investigate computerized voice assessment methods to classify between the normal and Dysarthric speech signals. In this proposed system, computerized assessment methods equipped with signal processing and artificial intelligence techniques have been introduced. The sentences used for the measurement of inter-stress intervals (ISI) were read by each subject. These sentences were computed for comparisons between normal and impaired voice. Band pass filter has been used for the preprocessing of speech samples. Speech segmentation is performed using signal energy and spectral centroid to separate voiced and unvoiced areas in speech signal. Acoustic features are extracted from the LPC model and speech segments from each audio signal to find the anomalies. The speech features which have been assessed for classification are Energy Entropy, Zero crossing rate (ZCR), Spectral-Centroid, Mean Fundamental-Frequency (Meanf0), Jitter (RAP), Jitter (PPQ), and Shimmer (APQ). Naïve Bayes (NB) has been used for speech classification. For speech test-1 and test-2, 72% and 80% accuracies of classification between healthy and impaired speech samples have been achieved respectively using the NB. For speech test-3, 64% correct classification is achieved using the NB. The results direct the possibility of speech impairment classification in PD patients based on the clinical rating scale.

Filmljudets funktioner i dramafilm : En audio-visuell analys av filmen The King's Speech

Johansson, Fredrik (2012). Filmljudets funktioner i dramafilm – En audio-visuell analys av filmen The King´s Speech. Examensuppsats inom Ljudproduktion, Högskolan Dalarna, Akademin för språk och medier, Falun. I denna uppsats undersöktes filmljudet i dramafilmen The King´s Speech. Detta för att ta reda på vilka funktioner filmljudet fyller i de valda sekvenserna ur nämnda film, samt hur ljudet är placerat i filmens flerkanalsmix. Filmen granskades med hjälp av en audio-visuell analys. Denna metod går ut på att ljudet och bilden undersöks separat, för att sedan åter kombineras och analyseras som helhet. Den audio-visuella analysmetod som använts kommer från ljudteoretikern Michel Chion, och kallas Masking. Resultatet av den audio-visuella analysen pekade mot att ljudets huvudsakliga funktioner var att skapa en realistisk skildring av karaktärer och omgivningar, skapa en känsla av närvaro, samt att skapa och bibehålla olika perspektiv i den narrativa världen. Den stora majoriteten av ljud visade sig vara placerade i centerkanalen, medan främst ickediegetisk musik och ambiensljud var placerade i front- och surroundkanalerna. Detta kanalanvändande tycktes gynna de funna funktionerna, främst genom att bidra till känslan av närvaro och realism, genom att omsluta filmpubliken med ambienta ljud.

Assessment of PD Speech Anomalies @ Home

Background: Voice processing in real-time is challenging. A drawback of previous work for Hypokinetic Dysarthria (HKD) recognition is the requirement of controlled settings in a laboratory environment. A personal digital assistant (PDA) has been developed for home assessment of PD patients. The PDA offers sound processing capabilities, which allow for developing a module for recognition and quantification HKD. Objective: To compose an algorithm for assessment of PD speech severity in the home environment based on a review synthesis. Methods: A two-tier review methodology is utilized. The first tier focuses on real-time problems in speech detection. In the second tier, acoustics features that are robust to medication changes in Levodopa-responsive patients are investigated for HKD recognition. Keywords such as Hypokinetic Dysarthria , and Speech recognition in real time were used in the search engines. IEEE explorer produced the most useful search hits as compared to Google Scholar, ELIN, EBRARY, PubMed and LIBRIS. Results: Vowel and consonant formants are the most relevant acoustic parameters to reflect PD medication changes. Since relevant speech segments (consonants and vowels) contains minority of speech energy, intelligibility can be improved by amplifying the voice signal using amplitude compression. Pause detection and peak to average power rate calculations for voice segmentation produce rich voice features in real time. Enhancements in voice segmentation can be done by inducing Zero-Crossing rate (ZCR). Consonants have high ZCR whereas vowels have low ZCR. Wavelet transform is found promising for voice analysis since it quantizes non-stationary voice signals over time-series using scale and translation parameters. In this way voice intelligibility in the waveforms can be analyzed in each time frame. Conclusions: This review evaluated HKD recognition algorithms to develop a tool for PD speech home-assessment using modern mobile technology. An algorithm that tackles realtime constraints in HKD recognition based on the review synthesis is proposed. We suggest that speech features may be further processed using wavelet transforms and used with a neural network for detection and quantification of speech anomalies related to PD. Based on this model, patients' speech can be automatically categorized according to UPDRS speech ratings.

Dialectal Speech in Literature and Translation : Bachelor Degree Thesis in English Linguistics

This essay studies how dialectal speech is reflected in written literature and how this phenomenon functions in translation. With this purpose in mind, Styron's Sophie's Choice and Twain's The Adventures of Huckleberry Finn are analysed using samples of non-standard orthography which have been applied in order to reflect the dialect, or accent, of certain characters. In the same way, Lundgren's Swedish translation of Sophie's Choice and Ferres and Rolfe's Spanish version of The Adventures of Huckleberry Finn are analysed. The method consists of linguistically analysing a few text samples from each novel, establishing how dialect is represented through non-standard orthography, and thereafter, comparing the same samples with their translation into another language in order to establish whether dialectal features are visible also in the translated novels. It is concluded that non-standard orthography is applied in the novels in order to represent each possible linguistic level, including pronunciation, morphosyntax, and vocabulary. Furthermore, it is concluded that while Lundgren's translation intends to orthographically represent dialectal speech on most occasions where the original does so, Ferres and Rolfe's translation pays no attention to dialectology. The discussion following the data analysis establishes some possible reasons for the exclusion of dialectal features in the Spanish translation considered here. Finally, the reason for which this study contributes to the study of dialectology is declared.

O hate speech e suas limitações

O objetivo deste trabalho de conclusão de curso é externar a relevância do direito à liberdade de expressão, especialmente em casos de discursos ofensivos e de incitação ao ódio, além de investigar se em algumas situações ele pode ser limitado para ceder a outros valores e de que forma. Por exemplo, através da técnica da ponderação ou de outros parâmetros pré-estabelecidos, os quais têm a função facilitar a resolução de casos difíceis, isto é, situações em que há a colisão entre direitos e deve-se chegar à conclusão de qual deles deve preponderar.

Brazil: challenges for freedom of speech online

Escola de Direito de São Paulo da Fundação Getulio Vargas

Effects of hearing protector devices on speech intelligibility

The purpose of this study was to determine the influence of hearing protection devices (HPDs) on the understanding of speech in young adults with normal hearing, both in a silent situation and in the presence of ambient noise. The experimental research was carried out with the following variables: five different conditions of HPD use (without protectors, with two earplugs and with two earmuffs); a type of noise (pink noise); 4 test levels (60, 70, 80 and 90 dB[A]); 6 signal/noise ratios (without noise, + 5, + 10, zero, - 5 and - 10 dB); 5 repetitions for each case, totalling 600 tests with 10 monosyllables in each one. The variable measure was the percentage of correctly heard words (monosyllabic) in the test. The results revealed that, at the lowest levels (60 and 70 dB), the protectors reduced the intelligibility of speech (compared to the tests without protectors) while, in the presence of ambient noise levels of 80 and 90 dB and unfavourable signal/noise ratios (0, -5 and -10 dB), the HPDs improved the intelligibility. A comparison of the effectiveness of earplugs versus earmuffs showed that the former offer greater efficiency in respect to the recognition of speech, providing a 30% improvement over situations in which no protection is used. As might be expected, this study confirmed that the protectors' influence on speech intelligibility is related directly to the spectral curve of the protector's attenuation. (C) 2003 Elsevier B.V. Ltd. All rights reserved.