SPATIAL EFFECTS: 3D MOVEMENT OF A VIRTUAL SOUND SOURCE

This document intends to explain the audio development project proposed to emulate the spatial effect of having a sound source moving in a 3D sonic environment. Throughout this document the reader will see a detailed explanation of how the problem was approached, the specific requirements needed to achieve the result, how this requirements were implemented using MatLab coding and how the end product was tested to evaluate the effectiveness of the solution provided. MatLab files will also be provided so that the reader can associate the concepts being described in order to have a better understanding of the process followed to develop this application.Architecture & Allied Art

Karen indigenous music and dance learning in an Australian non-formal context: A case study in maintenance and transmission

This study examines the viability of transmission and maintenance of Karen indigenous music and dance in an Australian non-formal context. Qualitative in design, the research comprised an ethnographic case study of an indigenous music and dance transmission situation (a series of five music and dance workshops) implemented in a non-formal community context in Western Sydney. Participants were a Karen cultural expert in music and dance, four Karen teacher participants and 14 Karen youth student participants. The researcher, as performance participant and participant observer, collected the data through field observation and video recording of the workshops, as well as semi-structured interviews that were conducted with the cultural expert, teacher participants, and the student participants. The first of its kind among the Karen community in Australia, the study explored the viability and means of transmission and maintenance of Karen indigenous music and dance through the involvement of Karen culture bearers and Karen youth. The study explored the views of the cultural expert and the various other culture bearers on Karen music and dance teaching and learning processes, as well as the motivation and learning styles of its student participants. Based on understandings of transmission processes operating in Burma and in the Thai-Burma border refugee camps that emerged during the study, the research revealed the need for evolving modified transmission processes for the diasporic context. The study raised many questions and highlighted culturally sensitive issues, ultimately indicating that the symbolic significance of the project as an initiative outweighed the pedagogical outcomes of the actual workshops

Familial Bainbridge-Ropers syndrome: report of familial ASXL3 inheritance and a milder phenotype

De novo truncating and splicing pathogenic variants in the Additional Sex Combs-Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features. We previously reported 45 patients with ASXL3-related disorder including three individuals with a familial variant. Here we report the detailed clinical and molecular characteristics of these three families with inherited ASXL3-related disorder. First, a father and son with c.2791_2792del p.Gln931fs pathogenic variant. The second, a mother, daughter and son with c.4534C > T, p.Gln1512Ter pathogenic variant. The third, a mother and her daughter with c.4441dup, p.Leu1481fs maternally inherited pathogenic variant. This report demonstrates intrafamilial phenotypic heterogeneity and confirms heritability of ASXL3-related disorder

Health as a Symbolic Media Interchanging between Body and Social System

Genetics of disease, diagnosis and treatmen

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

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Intellectual profiles in KBG-syndrome: A Wechsler based case-control study

Contains fulltext : 180763.pdf (publisher's version ) (Open Access)KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay/ intellectual disability and several specific facial dysmorphisms. In addition, both ADHD- and ASS-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n=18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n=17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome.5 p

[Solitary Median Maxillary Central Incisor syndrome].

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Primary cataract as a key to recognition of myotonic dystrophy type 1

Item does not contain fulltextPURPOSE: Primary cataract is often the initial manifestation of the adult-onset type of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. It is caused by a CTG repeat expansion within the DMPK gene, and anticipation may cause earlier onset and more severe symptoms in subsequent generations. METHODS: We report a family with hereditary cataract, which was initially classified as primary hereditary cataract. After presentation of 2 children with motor development delay and behavioral changes, DM1 was diagnosed. Subsequently, various DM1 features were recognized in older family members. CONCLUSIONS: This report aims to increase awareness among ophthalmologists of the high prevalence of DM1 among young primary cataract patients. Ophthalmologists can play a significant role in early diagnosis, since cataract frequently is the first occasion that patients seek medical attention. Early recognition is crucial since it enables adequate cardiac follow-up and allows counseling of couples of childbearing age

[Tooth eruption disturbances and syndromes]

In the tooth eruption mechanism, various disturbances can appear as a result of gene mutations, a consequence of which can be that tooth eruption does not occur. There are 5 syndromes which involve the complete failure of several or even all teeth to erupt, specifically: cleidocranial dysplasia, Gardner's syndrome, osteopetrosis, mucopolysaccharidosis and GAPO syndrome. Some are very rare and will seldom be encountered in a dental practice, but they show how vulnerable the tooth eruption mechanism is. Dentists are generally the ones who identify a tooth eruption problem in a patient. Since syndromes can be associated with other disorders, additional investigation by a clinical geneticist is always important when a syndrome is suspected