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.

The isatin-Schiff base copper(II) complex Cu(isaepy)(2) acts as delocalized lipophilic cation, yields widespread mitochondrial oxidative damage and induces AMP-activated protein kinase-dependent apoptosis

We previously demonstrated that Bis[(2-oxindol-3-ylimino)-2-(2-aminoethyl) pyridine-N, N`] copper(II) [Cu(isaepy)(2)] was an efficient inducer of the apoptotic mitochondrial pathway. Here, we deeply dissect the mechanisms underlying the ability of Cu(isaepy)(2) to cause mitochondriotoxicity. In particular, we demonstrate that Cu(isaepy)(2) increases NADH-dependent oxygen consumption of isolated mitochondria and that this phenomenon is associated with oxy-radical production and insensitive to adenosine diphosphate. These data indicate that Cu(isaepy)(2) behaves as an uncoupler and this property is also confirmed in cell systems. Particularly, SH-SY5Y cells show: (i) an early loss of mitochondrial transmembrane potential; (ii) a decrease in the expression levels of respiratory complex components and (iii) a significant adenosine triphosphate (ATP) decrement. The causative energetic impairment mediated by Cu(isaepy)(2) in apoptosis is confirmed by experiments carried out with rho(0) cells, or by glucose supplementation, where cell death is significantly inhibited. Moreover, gastric and cervix carcinoma AGS and HeLa cells, which rely most of their ATP production on oxidative phosphorylation, show a marked sensitivity toward Cu(isaepy)(2). Adenosine monophosphate-activated protein kinase (AMPK), which is activated by events increasing the adenosine monophosphate: ATP ratio, is deeply involved in the apoptotic process because the overexpression of its dominant/negative form completely abolishes cell death. Upon glucose supplementation, AMPK is not activated, confirming its role as fuel-sensing enzyme that positively responds to Cu(isaepy)(2)-mediated energetic impairment by committing cells to apoptosis. Overall, data obtained indicate that Cu(isaepy)(2) behaves as delocalized lipophilic cation and induces mitochondrial-sited reactive oxygen species production. This event results in mitochondrial dysfunction and ATP decrease, which in turn triggers AMPK-dependent apoptosis.

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.

Representing the mind: adult talk to speech-delayed preschoolers

There is evidence from a range of studies that adult input influences a young child's language development Of interest is how adult input contributes to emotional and cognitive understandings. Children with special needs in mainstream schools are expected to develop social skills which entails the understanding of a situation from the perspective of other participants. The question is whether children with a speech delay hear adult language that helps them develop a theory of mind. The study of the acquisition of a theory of mind has focused on children who have been asked to carry out tasks demonstrating their understanding of what another person might be thinking. Tager-Flusberg et al. (2001) have found that children who perform better on theory of mind tasks are children who talk about thoughts and feelings. The present study looks at mental state language input provided to children that might help them learn to talk about thoughts and feelings. Activities involving children and their mothers, and activities in a preschool program were studied for cognitive and emotional content in the adult input. The input provided to normally developing children would be more supportive of the development of their talk about thoughts and feelings.

Developmental language disorders and adolescent risk: a public-health advocacy role for speech pathologists?

Within the multi-disciplinary team concerned with child and adolescent development, speech pathologists are uniquely positioned to understand the nature and overall developmental significance of language acquisition in childhood and adolescence. Other disciplines contribute valuable insights about psychosocial development during the childhood and adolescent years. The field of developmental psychology, for example provides a large and convincing body of evidence about the role of academic success as a protective factor against a range of psychosocial harms, in particular substance misuse, truancy, early school leaving, and juvenile offending. In this paper, we argue that juvenile offending embodies the notion of "adolescent risk", but in Australia in particular, has been under-investigated with respect to possible associations with developmental language disorders and subsequent academic failure. We present findings pertaining to a sample of 30 male juvenile offenders completing community based orders. Performance on a range of oral language processing and production skills was poorer than that of a demographically similar comparison group. Our results confirm the need to conceptualize language within a broader risk and protective framework. We therefore emphasize the public health importance of early language competence, by virtue of the psychosocial protection it confers on young people with respect to the development of prosocial skills, transition to literacy and overall academic achievement. We argue that speech pathologists are best positioned to advocate at a policy level about the broader public health importance of oral language competence.