44 research outputs found
Radar Based Human Vital Sign Detection In Cars: A System Analysis
No full textThis thesis analyses different radar systems for sensing chest movement to detect human presence inside a car. The detection in this thesis is limited to sensing breathing rate, although heartbeat detection is considered a possibility. A comparison is made between CW-, FMCW-, pulsed- and UWB pulsed radar. UWB pulsed radar was chosen to be a suitable technology for this application. As a benchmark, the Xethru X4 SoC by Novelda is used. The parameters and the working of Xethru X4 are investigated. A suitable antenna for Xethru is designed and simulated. Different detection techniques are discussed. The feasibility of the Xethru X4 is tested by means of calculations in different settings. Based on these tests, the Xethru X4 is evaluated and concluded to be suitable for detecting human presence inside a car by means of vital sign detection.EE3L11 Bachelor graduation project Electrical EngineeringElectrical Engineerin
Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome
No full textAbstract Background The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler–Scheie syndrome and attenuated Scheie syndrome). We aim to identify the genetic variants in MPS I patients and to investigate the effect of the novel splice site mutation on splicing of IDUA- mRNA variability using bioinformatics tools. Methods The IDUA mutations were determined in four MPS I patients from four families from Northern Tunisia, by amplifying and sequencing each of the IDUA exons and intron–exon junctions. Results One novel splice site IDUA mutation, c.1650 + 1G > T in intron 11 and two previously reported mutations, p.A75T and p.R555H, were detected. The patients in families 1 and 2 who have the Hurler phenotype were homozygotes for the novel splice site mutation c.1650 + 1G > T. The patient in family 3, who also had the Hurler phenotype, was a compound heterozygote for the novel splice site mutation c.1650 + 1G > T and for the previously reported missense mutation p.A75T. The patient in family 4 who had the Hurler–Scheie phenotype was a compound heterozygote for the novel splice site mutation c.1650 + 1G > T and for the previously reported missense mutation p.R555H. In addition, four known IDUA polymorphisms were identified. Bioinformatics tools allowed us to associate the variant c.1650 + 1G > T with the severe clinical phenotype of MPS I. This variant affects the essential nucleotide + 1 (G to T) of the donor splice site of IDUA intron 11. The G > T in intron 11 leads to wild type donor site broken with minus 19.97% value compared to normal value with 0%, hence the new splice site acceptor has plus 5.59%. Conclusions The present findings indicate that the identified mutations facilitate the accurate carrier detection (genetic counseling of at-risk relatives) and the molecular prenatal diagnosis in Tunisia
Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome
No full textBackground: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and management of this severe disorder. Methods: A total of 52 patients diagnosed with ZS and 60 age- and sex-matched healthy controls were included in this study. Patients were recruited during the past 21 years, and the diagnosis of ZS was based on clinical and biochemical characteristics. Plasma very long chain fatty acids (VLCFA) were analyzed using capillary gas chromatography. The estimated incidence of ZS was calculated using the HardyâWeinberg formula. Results: The estimated incidence of ZS is 1/15,898 in Tunisia. Age at diagnosis varied between 3 days and 18 months. Severe neurological syndrome, polymalformative features, and hepatodigestive signs were observed in 100%, 67.9%, and 32% of patients, respectively. Values for plasma C26:0 and C26:0/C22:0 and C24:0/C22:0 ratios were noticeably higher in ZS patients than in controls. Distributions of values were completely different for C26:0 (0.10â0.37 vs. 0.001â0.009), C26:0/C22:0 ratio (0.11â1.29 vs. 0.003â0.090), and C24:0/C22:0 ratio (1.03â3.18 vs. 0.4â0.90) in ZS patients versus controls, respectively. Conclusions: This study highlights the high incidence of ZS in Tunisia and the possibility of simple and reliable biochemical diagnosis, thus permitting early genetic counseling for families at risk. Key Words: gas chromatography, hypotonia, peroxisomal disorder, very long chain fatty acids, Zellweger syndrom
3D Integration for Modular Quantum Computer based on Diamond Spin Qubits
No full textQuantum computer chip based on spin qubits in diamond uses modules that are entangled with on-chip optical links. This enables an increased connectivity and a negligible crosstalk and error-rate when the number of qubits increases onchip. Here, 3D integration is the key enabling technology for a large-scale integration of the diamond spin qubits with photonic and electronic circuits for routing, control and readout of qubits. There are several engineering challenges to integrate the large number of spins in diamond with the on-chip circuits operating at a cryogenic temperature. In this paper we will address challenges, present recent results and discuss future outlook of the integration technology for realization of a scalable quantum computer based on diamond spin qubits.Green Open Access added to TU Delft Institutional Repository 'You share, we take care!' - Taverne project https://www.openaccess.nl/en/you-share-we-take-care Otherwise as indicated in the copyright section: the publisher is the copyright holder of this work and the author uses the Dutch legislation to make this work public.QID/Ishihara LabQuantum Circuit Architectures and Technolog
A de novo large deletion of 2.8 kB produced in ABCD1 gene causing Adrenoleukodystrophy disease
No full textX-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene that encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long-chain fatty acids (VLCFAs) in plasma, adrenal, testicular and nervous tissues. In the present study, our objective is to conduct a clinical, molecular and genetic study of a Tunisian patient with X-linked adrenoleukodystrophy. The clinical diagnosis was based on clinical symptoms, biochemical levels, typical scanner pattern and molecular biology. Whereas, the molecular analysis was based on PCR, long range PCR and sequencing. The molecular analysis by long range PCR and direct sequencing of the ABCD1 gene showed the presence of a de novo 2794 bp deletion covering the whole of exon 2. Using bioinformatics tools, we demonstrate that the large deletion is located in a region rich of Alu sequences. Furthermore, we suggest that the AluJb sequence can be the cause of the large deletion of intron 1, exon 2 and intron 2 and creation of premature stop codon within exon 3. The present report, however, is the first report in which we demonstrate the breakpoints and the size of a large deletion in an X-ALD Tunisian patient.The presentation of the authors' names and (or) special characters in the title of the pdf file of the accepted manuscript may differ slightly from what is displayed on the item page. The information in the pdf file of the accepted manuscript reflects the original submission by the author
A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis
No full textYou can try without visiting: a comprehensive survey on virtually try-on outfits
No full textSince the last years and until now technology has made fast progress for many industries in particularly garment industry which aims to follow consumer desires and demands One of these demands is to fit clothes before purchasing them on line Therefore many research works have been focused on how to develop an intelligent apparel industry to ensure the online shopping experience Image based virtual try on is among the most potential approach of virtual fitting that tries on target clothes into customer s image therefore it has received considerable research efforts in the recent years However there are several challenges involved in development of virtual try on that make it difficult to achieve naturally looking virtual outfit such as shape pose occlusion illumination cloth texture logo and text etc The aim of this study is to provide a comprehensive and structured overview of extensive research on the advancement of virtual try on This review first introduces virtual try on and its challenges followed by its demand in fashion industry We summarize state of the art image based virtual try on for both fashion detection and fashion synthesis as well as their respective advantages drawbacks and guidelines for selection of specific try on model followed by its recent development and successful application Finally we conclude the paper with promising directions for future research 2022 The Author s under exclusive licence to Springer Science Business Media LLC part of Springer Natur
Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease
No full text
