Search results for: Willi Zschiebsch
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 3

Search results for: Willi Zschiebsch

3 Language Development in Rare Diseases: Angelman Syndrome vs Prader-Willi Syndrome

Authors: Sara Canas Pedrosa, Esther Moraleda SepuLveda

Abstract:

Angelman Syndrome (AS) and Prader-Willi Syndrome (PWS) are considered rare genetic disorders that share the same chromosomal region: 15q11.2-q13. This is why both share some common characteristics, such as, delay in language development. However, there is still little research that specifically focuses on the linguistic profile in these populations. Therefore, the objective of this study was to know the characteristics of oral and written language that Angelman Syndrome and Prader-Willi Syndrome present from the point of view of parents. The sample consisted of 36 families (with children between 6 and 17 years old), of which 23 had children with AS and 13 had children with PWS. All of them answered the Language Assessment Scale of the standardized test CELF-4, Spanish Clinical Evaluation of Language Fundamentals-4 (Wiig, Secord & Semel, 2006). The scale is made up of 40 items that assesses the perception of parents in areas such as: difficulty of listening, speaking, reading and writing. The results indicate that the majority of parents manifest problems in almost all the sub-areas related to oral language and written language, taking into account that many do not achieve a literacy level, with similar results in comparison with both syndromes. These data support the importance of working on oral language delay and its relationship with the subsequent learning of literacy throughout its development.

Keywords: Angelman Syndrome , development, language, Prader-Willi Syndrome

Procedia PDF Downloads 139
2 Fast Generation of High-Performance Driveshafts: A Digital Approach to Automated Linked Topology and Design Optimization

Authors: Willi Zschiebsch, Alrik Dargel, Sebastian Spitzer, Philipp Johst, Robert Böhm, Niels Modler

Abstract:

In this article, we investigate an approach that digitally links individual development process steps by using the drive shaft of an aircraft engine as a representative example of a fiber polymer composite. Such high-performance, lightweight composite structures have many adjustable parameters that influence the mechanical properties. Only a combination of optimal parameter values can lead to energy efficient lightweight structures. The development tools required for the Engineering Design Process (EDP) are often isolated solutions, and their compatibility with each other is limited. A digital framework is presented in this study, which allows individual specialised tools to be linked via the generated data in such a way that automated optimization across programs becomes possible. This is demonstrated using the example of linking geometry generation with numerical structural analysis. The proposed digital framework for automated design optimization demonstrates the feasibility of developing a complete digital approach to design optimization. The methodology shows promising potential for achieving optimal solutions in terms of mass, material utilization, eigenfrequency, and deformation under lateral load with less development effort. The development of such a framework is an important step towards promoting a more efficient design approach that can lead to stable and balanced results.

Keywords: digital linked process, composite, CFRP, multi-objective, EDP, NSGA-2, NSGA-3, TPE

Procedia PDF Downloads 76
1 The Risk of Hyperglycemia Associated with Use of Dolutegravir among Adults Living with HIV in Kampala, Uganda: A Case Control Study

Authors: Daphine Namara, Jeremy I. Schwartz, Andrew K. Tusubira, Willi McFarland, Caroline Birungi, Fred C. Semitala, Martin Muddu

Abstract:

Emerging evidence suggests a possible association between hyperglycemia and dolutegravir (DTG), a preferred first-line antiretroviral agent in sub-Saharan Africa (SSA). There is a need for rigorous studies to validate this association in the face of increasing DTG use and the burden of non-communicable diseases among people living with HIV (PLHIV). We conducted a case-control study to assess the risk of hyperglycemia associated with the use of DTG among PLHIV attending Mulago ISS Clinic in Kampala. Cases had hyperglycemia, while controls had no hyperglycemia, as confirmed by fasting plasma glucose and oral glucose tolerance tests. Demographic, laboratory, and clinical data were collected using interviewer-administered questionnaires and medical record abstraction. The analysis compared cases and controls on DTG use prior to diagnosis of hyperglycemia while controlling for potential confounders using multivariable logistic regression. We included 204 cases and 231 controls. In multivariable analysis, patients with prior DTG use had seven times greater odds of subsequent diagnosis of hyperglycemia compared to those who had non-DTG-based regimens (adjusted odds ratio [aOR] 7.01, 95% CI 1.96-25.09). The odds of hyperglycemia also increased with age (56 years and above vs. 18-35, aOR 12.38, 95% CI 3.79-40.50) and hypertension (aOR 5.78, 95% CI 2.53-13.21). Our study demonstrates a strong association between prior DTG exposure and subsequent diagnosis of hyperglycemia. Given the benefits of DTG, wide-scale use, and the growing burden of diabetes mellitus (DM) in SSA, there is a need for systematic screening for hyperglycemia and consideration of alternate regimens for those at risk for DM.

Keywords: HIV, hyperglycemia, doluteravir, diabetes

Procedia PDF Downloads 87