A web-based embedded sequential controller with USB1-N wireless I/O modules
PROGRESS ON ADVANCED MANUFACTURE FOR MICRO/NANO TECHNOLOGY 2005, PT 1 AND 2
Authors: Sheu, YH; Li, WJ; Chen, YC; Yang, JY
Abstract
This paper designs web-based USB 1-N wireless I/O modules embedded sequential controller. The controller consists of ARM-based core system, a set of USB 1-N wireless I/O data acquisition modules, and sequential control software. The ARM-based core system running Linux operation system forms the basic hardware/software foundation of the controller. The set of USB devices used as I/O interface (sensor and actuator) of the controller. With the use of RF chip, the USB I/O is cascaded by wireless 1-N channel such that multiple data acquisition modules can communicate with the controller by a USB port. The device driver of the USB set for the ARM-base Linux system is developed. The sequential control software is designed as client/server structure. The server-side program and client-side program communicate through the Internet. The server-side control program, mainly a PLC interpreter, is an application developed in C++ in the Linux system. The client-side control program is developed in Java and put under a web server of the controller such that the program can be easily deployed by network and run in remote computer. The client program is also used as GUI of the controller.
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
MOLECULAR GENETICS & GENOMIC MEDICINE
Authors: Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina
Abstract
Background Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses. Methods DNA samples from 43 patients were screened for variants in the 21 exons of the RECQL4 gene using PCR, SSCP-PAGE analysis and/or Sanger sequencing. Patients with only one or no detectable mutation in the RECQL4 gene were additionally tested for variants in the 8 exons of the USB1 (C16orf57) gene by Sanger sequencing. The effect of novel variants was evaluated by phylogenic studies, single-nucleotide polymorphism (SNP) databases and in silico analyses. Results We identified 23 different RECQL4 mutations including 10 novel and one homozygous novel USB1 (C16orf57) mutation in a patient with PN. Moreover, we describe 31 RECQL4 and 8 USB1 sequence variants, four of them being novel intronic RECQL4 sequence changes that may have some deleterious effects on splicing mechanisms and need further evaluation by transcript analyses. Conclusion The current study contributes to the improvement of genetic diagnostic strategies and interpretation in RTS and PN that is relevant in order to assess the patients' cancer risk, to avoid continuous and inconclusive clinical evaluations and to clarify the recurrence risk in the families. Additionally, it shows that the phenotype of more than 50% of the patients with suspected Rothmund-Thomson disease may be due to mutations in other genes raising the need for further extended genetic analyses.