Search

A novel antipodal wide-slot antenna for ultra-wideband (UWB) applications is proposed and studied in detail. The antenna is fed by a microstrip line terminated with a rectangular tuning patch. An antipodal structure is employed to improve the radiation performances. The return losses, surface E-field, current distribution, radiation patterns and gains of the antenna are numerically and experimentally investigated. Results show that the proposed antipodal antenna has an impedance bandwidth from 0.79 to 4.0 GHz, which is about 5:1. Compared with conventional rectangular wide-slot antenna, more stable radiation pattern with lower cross-polarisation level and flatter gain variation over a 3:1 bandwidth can be obtained. Thus, the proposed antenna should be more suitable for future UWB-multiple-input multiple-output applications using polarisation diversity than conventional UWB rectangular slot antennas.

Background: To study the compatibility of cephalosporins with intraocular irrigating solutions and intracameral medications commonly used in cataract surgery. Design: The was an in vitro experiment conducted in the Research Laboratory of the Department of Microbiology, the Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong. Samples: Three cephalosporins – cefazolin, cefuroxime and ceftazidime – were separately diluted and mixed with irrigating solutions and intracameral medications to form 192 samples and 12 control solutions. Methods: The cephalosporins were dissolved in normal saline and further diluted to the concentration of 1 mg in 0.1 mL with normal saline, Ringer's solution, balanced salt solution and fortified balanced salt solutions. These were mixed with balanced salt solutions or fortified balanced salt solutions, with adrenaline, acetylcholine or carbachol and kept at 37°C for 2 h. The concentrations of free cephalosporins were measured with rapid high-performance liquid chromatography at baseline (0 h) and at 2 h. Main Outcome Measures: Free concentrations of cephalosporins at 2 h were compared with mean baseline (0 h) value. A difference of 3 standard deviations or more was considered statistically significant. Results: At 2 h there was a significant drop in the cefuroxime concentration in preparations in which cefuroxime was diluted with normal saline (P

Genomic disorders have been increasingly recognized as a significant source of clinically relevant phenotypes largely fostered by advances in technologies for genome-wide analyses. Molecular and clinical studies of copy number variants involving chromosome 17 began with locus-specific studies of Charcot-Marie-Tooth disease type 1A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP, OMIM #162500), which laid the foundation for the paradigm of duplication/deletion and gene-dosage for our understanding of genomic disorders. With the clinical introduction of high-resolution array comparative genomic hybridization (aCGH) the number of recognized genomic disorders including microduplications has been increasing rapidly. A relatively high proportion of disease-associated copy number variants map to chromosome 17. This may result from its unique structural features, such as relative abundance of segmental duplications and interspersed repetitive elements, high gene content, and the presence of dosage-sensitive genes. These genomic rearrangements are mediated by diverse mechanisms including Non-Allelic Homologous Recombination (NAHR), Non-Homologous End-Joining (NHEJ), and Fork Stalling and Template Switching (FoSTeS). We provide specific examples of chromosome 17 microduplications with the emphasis on their phenotype, specific clinical features aiding in their diagnosis, and counseling.

We report a female patient with delayed growth and development, skeletal and cardiac defects, and a male XY sex chromosome complement with early failure of gonad development. SRY sequencing was normal. Array comparative genome hybridization (CGH) analysis revealed a gain in copy number in the subtelomeric region of the short arm of chromosome 16, encompassing a region of approximately 560 kb in size including GNG13 which may be involved in ovarian development. The proximal breakpoint of the duplication maps about 18 kb upstream of SOX8 and involves evolutionary conserved regulatory elements. SOX8, like SOX9, is a transcription factor expressed in many tissues, including neural crest, nervous system, muscle, cartilage, adrenal gland, kidney, and testis. There was no increase in GNG13 or SOX8 expression in the patient’s lymphoblastoid line. It is possible that an alteration of SOX8 or/and GNG13 expression is responsible for the multiple congenital anomalies and sex reversal in our patient.

Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences.

We report on a young male with moderate mental retardation, dysmorphic features, and language delay who is deleted for 7q31.1-7q31.31. His full karyotype is 46,XY,der(7)del(7)(q31.1q31.31)ins(10;7)(q24.3;q31.1q31.31)mat. This child had language impairment, including developmental verbal dyspraxia, but did not meet criteria for autism according to standardized ADOS testing. Our patient's deletion, which is the smallest reported deletion including FOXP2, adds to the body of evidence that supports the role of FOXP2 in speech and language impairment, but not in autism. A reported association between autism and deletions of WNT2, a gene also deleted in our patient, is likewise not supported by our case. Previously, fine mapping with microsatellites markers within in a large three-generation family, in which half the members had severe specific language impairment, aided the localization of the SPCH1 locus to 7q31 within markers D7S2459 (107.1 Mb) and D7S643 (120.5 Mb). Additionally, chromosome rearrangement of 7q31 and mutational analyses have supported the growing evidence that FOXP2, a gene within the SPCH1 region, is involved with speech and language development. It is unclear however whether the AUTS1 (autistic spectrum 1) locus, highly linked to 7q31, overlaps with the SPCH1 and FOXP2.

Background Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our previous study, we identified a unique individual with a de novo 17q25.3 deletion from a study of 714 individuals with CVM. Methods To understand the contribution of this locus to cardiac malformations, we reviewed the data on 60,000 samples submitted for array comparative genomic hybridization (CGH) studies to Medical Genetics Laboratories at Baylor College of Medicine, and ascertained seven individuals with segmental aneusomy of 17q25. We validated our findings by studying another individual with a de novo submicroscopic deletion of this region from Cytogenetics Laboratory at Cincinnati Children’s Hospital. Using bioinformatic analyses including protein-protein interaction network, human tissue expression patterns, haploinsufficiency scores, and other annotation systems, including a training set of 251 genes known to be linked to human cardiac disease, we constructed a pathogenicity score for cardiac phenotype for each of the 57 genes within the terminal 2.0 Mb of 17q25.3. Results We found relatively high penetrance of cardiovascular defects (~60 %) with five deletions and three duplications, observed in eight unrelated individuals. Distinct cardiac phenotypes were present in four of these subjects with non-recurrent de novo deletions (range 0.08 Mb–1.4 Mb) in the subtelomeric region of 17q25.3. These included coarctation of the aorta (CoA), total anomalous pulmonary venous return (TAPVR), ventricular septal defect (VSD) and atrial septal defect (ASD). Amongst the three individuals with variable size duplications of this region, one had patent ductus arteriosus (PDA) at 8 months of age. Conclusion The distinct cardiac lesions observed in the affected patients and the bioinformatics analyses suggest that multiple genes may be plausible drivers of the cardiac phenotype within this gene-rich critical interval of 17q25.3. Electronic supplementary material The online version of this article (doi:10.1186/s13023-015-0291-0) contains supplementary material, which is available to authorized users.

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome involving the Wilms tumor 1 gene (WT1), the paired box gene 6 (PAX6), and possibly other genes on chromosome 11p13. WT1 is required for normal formation of the genitourinary system and the high incidence of Wilms tumor and genitourinary anomalies found in patients with WAGR are attributed to haploinsufficiency of this gene. It has been hypothesized that WT1 also plays an important role in the development of the diaphragm. During mammalian embryonic development, WT1 is expressed in the pleural and abdominal mesothelium that forms part of the diaphragm. Furthermore, mice that are homozygous for a deletion in the mouse homolog of WT1 have diaphragmatic hernias. Case reports describing congenital diaphragmatic hernias in infants with Denys-Drash and Frasier syndromes, both of which can be caused by mutations in WT1, provide additional support for this hypothesis. We report an infant with aniridia, bilateral cryptorchidism, vesicoureteral reflux, and a right-sided Morgagni-type diaphragmatic hernia. G-banded chromosome analysis revealed a deletion of 11p12-p15.1. Breakpoint regions were refined by fluorescence in situ hybridization (FISH) and deletion of the WAGR critical region, including WT1, was confirmed. A review of the medical literature identified a second patient with a deletion of 11p13, a left-sided Bochdalek-type diaphragmatic hernia, and anomalies that suggest a diagnosis of WAGR including bilateral microphthalmia, a small penis, bilateral cryptorchidism, and a hypoplastic scrotum. These cases demonstrate that congenital diaphragmatic hernia can be associated with WAGR syndrome and suggest that deletions of WT1 may predispose individuals to develop congenital diaphragmatic hernia.

We present molecular genetic investigations of a 4-year-old boy with craniofacial dysmorphism and developmental delay. Trivial mitral and tricuspid regurgitation without gross structural abnormality was diagnosed by echocardiography. High-resolution chromosome analysis revealed an interstitial deletion, del(10)(p12.1p12.32). To characterize the deletion size and breakpoints, we performed fluorescence in situ hybridization analysis using 27 BAC clones. Our data demonstrate an approximately 5.5 Mb deletion del(10)(p12.1p12.31). Surprisingly, the BAC clone RP11-56H7 that contains NEBL, an apparent downstream gene of the cardiogenic transcription factor HAND2 previously shown to be deleted in the patients with DiGeorge 2 syndrome and 10p13 deletion, was deleted in our patient with 10p12.1-p12.31 deletion. In addition, we provide clinical data and results of molecular analysis for a patient with multiple congenital anomalies including Ebstein's anomaly, kidney malformations, and 10p13-p14 deletion. We also reviewed 19 patients with congenital heart defects and deletions involving 10p and propose that atrial septal defect (ASD) is a common cardiac anomaly associated with DiGeorge 2 syndrome. Based on genotype-phenotype analysis of published patients and those reported herein, we propose an approximately 1.0 Mb critical region between loci D10S547 and D10S2176 in 10p14 to be associated with ASD. Considering that septal defects are the most frequent congenital heart anomaly, we suggest that further investigations in the 10p critical region are important to identify gene(s) responsible for this common birth defect.

90° and 180°-switched-line phase shifters using composite right/left handed transmission line (CRLH TL) are presented. To achieve a relatively constant phase shift over a large bandwidth, CRLH TLs implemented using lumped elements and right-handed transmission lines (RH TLs) are used as the reference and delay arms, respectively, of the phase shifters. Computer simulation is used to study and design the phase shifters. The phase shifters are also fabricated and measured to verify the simulation results. For comparison, traditional 90° and 180°-switched-line phase shifters are also designed and simulated. Simulation and measurement results show that, the proposed phase shifters have a constant phase shift, a high return loss and a low insertion loss across the operating frequency band.

This paper presents the design of a circular-shaped ultra-wideband (UWB) time-delay lines inspired by the use of composite right/left-handed transmission line (CRLH TL) unit cells. A rotated version of a conventional CRLH TL unit cell is used as the basic element to achieve UWB operation. For comparison, time-delay lines using the right-handed transmission line (RH TL) and CRLH TL unit cells are also studied, fabricated and tested. Simulation and measurement results show that our proposed time-delay lines have high return loss, low insertion loss, UWB operation and much longer time delays than that of the time-delay line based on RH TL.

A 180°-switched-line phase shifter using composite right/left handed transmission line (CRLH TL) is presented. To achieve a relatively constant phase shift over a large bandwidth, a CRLH TL implemented using lumped elements and a right-handed transmission line (RH TL) are used as the reference and delay arms, respectively, of the phase shifter. Computer simulation is used to study and design the phase shifter. The phase shifter is also fabricated and measured to verify the simulation results. For comparison, a traditional 180°-switched-line phase shifter is also designed and simulated. Simulation and measurement results show that, the proposed phase shifter has a constant phase shift, a high return loss and a low insertion loss across the operating frequency band.

The rapid identification of Mycobacterium tuberculosis complex from 161 consecutive positive Bactec 12B cultures originated from non-respiratory secretion specimens was evaluated by comparing Accuprobe and an in-house polymerase chain reaction method. Using conventional biochemical method as the gold standard, 85.7% of the isolates (n = 138) were identified as Mycobacterium tuberculosis. The sensitivities of Accuprobe and the in-house-polymerase chain reaction method in identifying Mycobacterium tuberculosis complex were 92.0% (127/138) and 93.5% (129/138), respectively. Specificities of both methods being 87.0% (20/23 for both tests). Using a batch system of performing identification once weekly, the average turnaround time for Accuprobe, from the time of primary inoculation, was 27 days, which was comparable with that of in-house polymerase chain reaction, which was 29 days. The average time required for a confirmatory result based on conventional biochemical identification method was 84 days. The estimated reagent cost of in-house polymerase chain reaction was only one-fifth of that of Accuprobe. Therefore, the choice of methodology will depend on the individual laboratory's availability of resources and clinical demand. In the event of discrepant results between rapid identification methods and conventional methods, histological examination and clinical assessment can provide guidance as to the nature of the infection.

Fibreoptic bronchoscopy was performed on 190 patients with chest radiographic lesions and negative sputum smears for acid-fast bacilli. Aside from obtaining transbronchial biopsies for histological examination, bronchial aspirate specimens were also tested for Mycobacterium tuberculosis complex DNA by a conventional polymerase chain reaction (PCR) technique. Of 177 transbronchial biopsies performed, a diagnosis was found in 64 cases [43 cases of tuberculosis (TB), 17 cases of lung carcinoma and four cases of other infective/inflammatory diseases] giving a diagnostic yield of 36·2%. PCR was positive in 105 of 108 finally diagnosed cases of TB and 22 of 82 non-TB cases. The sensitivity, specificity, positive predictive value and negative predictive value of PCR when applied to bronchial aspirate specimens for diagnosing smear-negative pulmonary TB were 97·2%, 73·2%, 82·7% and 95·2% respectively. Therefore, detection of M. tuberculosis complex DNA in bronchial aspirates by PCR might have an adjunctive place to transbronchial biopsies in the rapid diagnosis of smear-negative pulmonary tuberculosis.

We evaluated treatment with linezolid, dosed at 800 mg once daily for 1 to 4 months as guided by sputum culture status and tolerance and then at 1,200 mg thrice weekly until ≥1 year after culture conversion, in addition to individually optimized regimens among 10 consecutive patients with extensively drug-resistant tuberculosis or fluoroquinolone-resistant multidrug-resistant tuberculosis. All achieved stable cure, with anemia corrected and neuropathy stabilized, ameliorated, or avoided after switching to intermittent dosing. Serum linezolid profiles appeared better optimized.

A randomised double-blind controlled clinical trial was conducted to compare oral ciprofloxacin (500 mg b.d.) and amoxycillin (1 g t.d.s.) in the treatment of infective exacerbations of bronchiectasis. The commonest organism isolated from sputum was Pseudomonas aeruginosa, which accounted for 34% of all positive sputum cultures. Other Pseudomonas species and Haemophilus influenzae, accounted for 19%, respectively. Ciprofloxacin produced better clinical response, a higher sputum to serum antibiotic level (mean of 0.65 in the ciprofloxacin group vs. 0.18 in amoxycillin group, p = 0.0001), broader spectrum of antibacterial activity and less side-effect. It was also better tolerated by patients. The findings suggest that ciprofloxacin is an effective treatment of infective exacerbations of bronchiectasis.

Communication is a process of transferring information from a source to a destination in an attempt to create shared understanding. Before the wireless age started 15-20 years ago, people mainly relied on the wired networks for communications. Nowadays, wireless communications has become a necessity for many people. Every year, for the cellular networks alone, there are over 120,000 new base stations deployed around the world [1]. Each base station consumes an average power of 1 KW and uses a total of 8,766 KW-hours each year. This amount of power is equivalent to the energy consumption of two typical 3-bedroom family houses in the UK, or one average household in the USA [2]. In some countries, the costs of power consumptions in the base stations of cellular networks account for 50% of the overall expenses of the service providers. It is also startling to learn that over 1% of the entire world’s carbon footprint is due to telecommunications. The implication of carbon footprint and energy cost is making green communications imperative and urging much research work on energy saving and harvesting. The OMICS Group special features such as Digital Book (paperless) and Open Access just well fit green communications.

Welcome to the 2012 International Conference on Signal Processing, Communications and Computing (ICSPCC), being held on August 12–15, 2012 in Hong Kong. This conference is intended to be a platform of academic exchange for researchers in signal processing, multimedia, telecommunications, computer systems and computing. Particularly, we hope to create more opportunities of interaction among young colleagues and research students in the Southeast Asia region.

Electromagnetic (EM) Metamaterials have specific EM properties that cannot be found in nature (Caloz & Itoh, 2006). These specific EM properties are obtained by the artificial structures, rather than the composition of the metamaterials, and affect the propagations of EM waves when the average structure sizes are much smaller than the guided wavelengths ┣g, i.e., at least smaller than ┣g/4. Since the propagation of an EM wave is related to its electric and magnetic fields, the EM properties of Electromagnetic (EM) Metamaterials can be described by using its permittivity e and permeability ┤.

Summary Objectives Early diagnosis of smear-negative tuberculosis remains challenging. The role of an interferon-gamma release assay (IGRA) in discriminating active pulmonary tuberculosis (PTB) among cases of ‘pneumonia' was investigated. Methods Consecutive patients admitted to an acute hospital in Hong Kong (intermediate TB burden) during 2006–2008 because of pneumonia and suspected PTB were recruited for IGRA (Quantiferon-TB Gold, QFN-G) study. Diagnosis of tuberculosis was confirmed by mycobacterial culture or histology. Results Altogether 179 patients were recruited (median (IQR) age 59 (44–75), 68.7% male); active PTB was confirmed in 63 (35.2%). Among the AFB-smear-negative ‘pneumonias' ( n = 152), age>50 (OR 0.27, 95% CI 0.09–0.84), absence of weight loss (OR 0.30, 95% CI 0.10–0.88), and negative IGRA (OR 0.08, 95% CI 0.03–0.25) were independently associated with lower risks of PTB. The overall sensitivity, specificity, positive and negative predictive values for the IGRA in diagnosing active PTB were 60%, 87%, 72% and 80% respectively. Among smear-negative ‘pneumonias' ( n = 152), the performance values of IGRA were 64%, 87%, 62% and 88% respectively; in the absence of characteristic clinical or radiographic features of PTB, the negative predictive value (NPV) improved to 90–95%. Conclusions The high NPV of QFN-G among smear-negative ‘pneumonias' can be useful for risk stratification in hospitalized patients suspected of PTB. Further investigation on the role of these assays in patient management is warranted.

Mutations in genes encoding voltage-gated sodium channels are significant factors in the etiology of neurological diseases and psychiatric disorders, including various types of idiopathic epilepsy. Using a clinical exon-targeted oligonucleotide array comparative genomic hybridization (aCGH), we have identified a de novo ~110-kb deletion involving exons 1-2 of SCN2A and non-coding exon 1a of SCN3A in a 25-year-old female with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures with abnormal EEG. We propose that haploinsufficiency of SCN2A may play an important role in the genetic basis of neurodevelopmental and neurobehavioral disorders and emphasize the efficacy of detecting exonic copy-number variation (CNV) by exon-targeted oligo aCGH.

We report an ~1.3 Mb tandem duplication at Xp11.23p11.3 in an 11-year-old boy with pleasant personality, hyperactivity, learning and visual-spatial difficulties, relative microcephaly, long face, stellate iris pattern, and periorbital fullness. This clinical presentation is milder and distinct from that of patients with partially overlapping Xp11.22p11.23 duplications which have been described in males and females with intellectual disability, language delay, autistic behaviors, and seizures. The duplicated region harbors three known X-linked mental retardation genes: FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over-expression of genes in the interval may contribute to the observed phenotype. Many of the features seen in this patient are present in individuals with Williams-Beuren syndrome (WBS). Interestingly, the SYN1 gene within the duplicated interval, as well as the STX1A gene, within the WBS critical region, co-localize to presynaptic active zones, and play important roles in neurotransmitter release.

Tinnitus is an auditory disorder characterized by perception of internally generated phantom auditory sensations without corresponding mechanical stimuli arising from the body or external environment. Current auditory based treatment approaches, sometimes in conjunction with nonauditory based strategies, such as Tinnitus Retraining Therapy and Cognitive Behavioral Therapy, have been helpful in mitigating symptoms for the majority of patients. Yet there are over 1 million tinnitus sufferers who still endure troublesome chronic, continuous head noises that are debilitating and interfere with activities of daily living. Here we show that application of deep brain stimulation (DBS) therapy to a locus of caudate neurons (area LC) in the body of the nucleus, a subsite of the striatum that is not part of the classical auditory pathway, can decrease or increase tinnitus loudness perception. The DBS lead traversed through or was adjacent to area LC in six Parkinson's disease and essential tremor subjects with concomitant tinnitus who underwent implantation of the subthalamic or ventral intermediate nucleus. In five subjects where the DBS lead tip traversed area LC, tinnitus loudness in both ears was suppressed to a nadir of level 2 or lower on a 0-10 rating scale. In one subject where the DBS lead was outside area LC, tinnitus was not modulated. In three subjects with preoperative and postoperative audiograms, hearing thresholds were unchanged by area LC stimulation. Neuromodulation of area LC may be interrupting perceptual integration of phantom sensations generated in the central auditory system. This new, basal ganglia based approach to tinnitus modulation warrants further investigation and may be ultimately refined to treat patients with refractory symptoms.

This paper presents the design of using a simple mixer circuit, constructed with Schottky diodes as the nonlinear device, to generate the intermodulation (IM) products for predistortion of high-power amplifiers (HPAs) in the base stations of cellular mobile systems. The design has a simple structure and requires no external dc bias voltage. A complex polynomial is used to model the characteristic of the HPA and the predistorter generates the in-phase and quadrature components of the intermodulation distortion (IMD) products for predistortion of the HPA. Experimental results using a practical HPA show that, for a modulated CDMA (IS-95) signal, the predistorter can reduce the adjacent-channel-power ratio (ACPR) by 15 dB.

Recent advances in molecular cytogenetics enable identification of small chromosomal aberrations that are undetectable by routine chromosome banding in 5-20% of patients with mental retardation/developmental delay (MR/DD) and dysmorphism. The aim of this study was to compare the clinical usefulness of two molecular cytogenetic techniques, metaphase high-resolution comparative genomic hybridization (HR-CGH) and targeted array CGH, also known as Chromosomal Microarray Analysis (CMA). A total of 116 patients with unexplained mild to severe MR and other features suggestive of a chromosomal abnormality with apparently normal or balanced karyotypes were analyzed using HR-CGH (43 patients) and/or CMA (91 patients). Metaphase HR-CGH detected seven interstitial deletions (16.3%). Rare deletions of chromosomes 16 (16p11.2p12.1) and 8 (8q21.11q21.2) were identified. Targeted CMA revealed copy-number changes in 19 of 91 patients (20.8%), among which 11 (11.8%) were clinically relevant, 6 (6.5%) were interpreted as polymorphic variants and 2 (2.1%) were of uncertain significance. The changes varied in size from 0.5 to 12.9 Mb. In summary, our results show that metaphase HR-CGH and array CGH techniques have become important components in cytogenetic diagnostics, particularly for detecting cryptic constitutional chromosome imbalances in patients with MR, in whom the underlying genetic defect is unknown. Additionally, application of both methods together increased the detection rates of genomic imbalances in the tested groups.

In the past few years, many new mobile technologies including the 3G, WiFi or mobileTV have created unprecedented learning opportunities on mobile devices. Furthermore, such technologies continuously fuel the rapid growth of new fields of research like the edutainment for educational entertainment. In a recent project awarded by the Hong Kong Wireless Development Center, we have developed a mobile quiz game system on 3G mobile phone networks in China, Hong Kong or other countries to facilitate learning anytime and anywhere. Our developed mobile quiz system is so generic that it can be readily extended to any wireless network. In this paper, we discuss about the design and possible uses of our quiz system in mobile learning, and also share the relevant experience in system development with the evaluation strategies carefully examined. After all, our work shed light on many interesting directions for future exploration.

In XY males, duplication of any part of the X chromosome except the pseudoautosomal region leads to functional disomy of the corresponding genes. We describe three unrelated male patients with mental retardation (MR), absent or delayed speech, and recurrent infections. Using high-resolution comparative genomic hybridization (HR-CGH), whole genome array comparative genomic hybridization (array CGH), fluorescent in situ hybridization (FISH), and multiplex ligation probe amplification (MLPA), we have identified and characterized two different unbalanced Xq27.3-qter translocations on the Y chromosome (approx. 9 and 12 Mb in size) and one submicroscopic interstitial duplication (approx. 0.3–1.3 Mb) involving the MECP2 gene. Despite the differences in size of the duplicated segments, the patients share a clinical phenotype that overlaps with the features described in patients with MECP2 duplication. Our data confirm previous observations that MECP2 is the most important dosage-sensitive gene responsible for neurologic development in patients with duplications on the distal part of chromosome Xq. © 2007 Wiley-Liss, Inc.

Four individuals carrying different Robertsonian translocations (13q;14q, 14q;21q, 14q;15q, and 13q;21q) were studied to determine the breakpoints involved in the generation of these derivative chromosomes. Sequential high-resolution G-banding, in situ hybridization using alphoid and ribosomal DNA probes, and C-banding were performed. In addition, silver staining was also used for visualization of the NOR region. The results provide direct molecular cytogenetic evidence that Robertsonian translocations can take place in different regions in both the short arm and proximal long arm of acrocentric chromosomes. Three different types of breakpoints were identified: between the ribosomal or alphoid sequences, as deduced from the banding and in situ hybridization results, and breaks in two seemingly unrelated regions on the two different chromosomes. The use of conventional cytogenetic techniques together with molecular studies allowed more precise evaluation of the breakpoints involved in Robertsonian translocations than either approach alone might have done.

Haploinsufficiency of SOX9, a master gene in chondrogenesis and testis development, leads to the semi-lethal skeletal malformation syndrome campomelic dysplasia (CD), with or without XY sex reversal. We report on two children with CD and a phenotypically normal father, a carrier of a somatic mosaic SOX9 deletion. This is the first report of a mosaic deletion of SOX9; few familial CD cases with germline and somatic mutation mosaicism have been described. Our findings confirm the utility of aCGH and indicate that for a more accurate estimate of the recurrence risk for a completely penetrant autosomal dominant disorder, parental somatic mosaicism should be considered in healthy parents.

In the downlink of Wideband Code Division Multiple Access (WCDMA) system, the signals from different channels are combined together before power amplification and transmission. The combined signal has a very high crest factor (CF) which imposes a tight requirement on the linearity of the transmitter power amplifier (PA). This paper proposes a peak-windowing technique to reduce the CF. Computer simulation results show that the proposed technique is superior to the conventional windowing technique. Since different window functions and lengths of window affect the performances of the techniques, in this paper, an attempt is also made to optimize the type of window, the length and other parameters for different windows in terms of the signal-to-noise ratio (SNR) and the bit-error-rate (BER) performance.

Aniridia usually occurs in isolation, but may also occur as part of the WAGR contiguous gene deletion syndrome, which includes Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. The aniridia and predisposition for Wilms tumor seen in WAGR are caused by haploinsufficiency for PAX 6 and WT1, respectively. We present a female infant with aniridia, bilateral ptosis, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, microcephaly, mild unilateral hydronephrosis, poor linear growth, and gross motor delay consistent with a clinical diagnosis of WAGR syndrome. In addition, weight-for-height ratio at 12 months is at the 94th centile, raising the possibility of a diagnosis of WAGRO (WAGR + Obesity). Chromosome analysis revealed a translocation (11;15)(p13;p11.2) which has not been previously associated with a diagnosis of WAGR. Subsequent clinical WAGR fluorescent in situ hybridization (FISH) analysis demonstrated a deletion of 11p13 including PAX6 and WT1. A complete FISH-mapping of the breakpoints on chromosome 11 revealed a 7 Mb deletion within 11p13-11p14. The patient is examined in light of other reported patients with deletions and/or translocations involving the regions between 11p12 --> 11p14 including patients with WAGR + obesity (WAGRO) as well as with other reported patients with aniridia and congenital ptosis.

To investigate the precipitation process of a mixture of vancomycin, amikacin, and dexamethasone by equilibrium dialysis and its subsequent effect on the levels of available-free antibiotics and steroid. Concentrations of amikacin, vancomycin, and dexamethasone in an equilibrium dialysis chamber were measured during the equilibrium process by high-performance liquid chromatography and fluorescence polarisation immunoassay. Vitreous were used as the medium of dialysis, with the three medications prepared in normal saline (NS) and balanced salt solution plus (BSS Plus) separately. Amikacin showed no measurable loss in NS or BSS Plus, either alone or when mixed with vancomycin or dexamethasone. Vancomycin showed minimal loss in BSS Plus, either alone or when mixed with amikacin or dexamethasone. Dexamethasone showed a median loss of 16 and 15% when incubated alone in NS and BSS Plus, respectively, at 48 h. When mixed with vancomycin or amikacin in BSS Plus, it showed a median loss of 13 and 12%, respectively, at 48 h. There was no statistically significant difference in the loss of dexamethasone under various conditions. In equilibrium dialysis in vitreous, amikacin, vancomycin, and dexamethasone reached equilibrium within 24 h and with no loss up to 192 h. There was no difference observed when the medications were prepared in NS or BSS Plus. Both amikacin and vancomycin did not show precipitation or decrease in concentration in NS or BSS Plus. Dexamethasone showed relatively small percentage loss. As a result, treatment of endophthalmitis with vancomycin and amikacin combination is preferred.

A rapid non-culture-based diagnostic method utilizing d-/l-arabinitol (DA/LA) ratios as a chemical marker of invasive candidiasis was developed and explored. The enantiomers-ratios detection was made possible by the use of gas chromatography coupled with mass spectrometry (GC/MS). The mean DA/LA ratios +/- standard deviation (range) in urine (n = 40) and serum (n = 20) were 2.08 +/- 0.78 (0.57 to 3.55) and 1.79 +/- 0.75 (0.74 to 3.54), respectively, from patients without evidence of fungal infection or colonization; in patients (n = 7) with culture-proven invasive candida infections, the figures were 9.91 +/- 3.04 (7.24 to 16.27) and 13.58 +/- 7.31 (5.57 to 25.88) in urine and serum, respectively. The differences in DA/LA ratios between the candidemic patients and the non-candidemic patients were statistically significant (p < 0.01) in both serum and urine samples. The DA/LA ratios were not significantly affected in patients with oral or vaginal candidiasis and candiduria.

A bandwidth-efficient pilot symbol aided technique for fading compensation and diversity combining is proposed for use with trellis-coded modulation (TCM) in land mobile satellite fading channels. Computer simulation tests are used to assess the effects of the technique on the bit-error-rate (BER) performances of trellis-coded 16-ary quadrature-amplitude-modulation in the shadowed Rician fading channels. Results have shown that the proposed technique requires a low bandwidth redundancy to achieve good BER performances and is suitable for use with TCM and diversity reception.

This paper studies the performance of a turbo-coded system in the frequency non-selective correlated Rayleigh fading channels. The turbo-coded system employs a pilot-symbol-aided (PSA) technique for fading compensation and interleaving for spreading the error bursts to reduce the error rate. The PSA technique is also used to provide the decoder with channel side information (CSI) for better performance in fading channel. Two PSA techniques, three normalized Doppler spreads and different interleaving sizes have been investigated. Results of computer simulations have shown that, an improved first-order fading prediction technique can improve the BER performance by a factor of about 62, relative to those obtained using the pilot symbols only. Results have also shown that an interleaving depth equal to one-quarter the reciprocal of normalized Doppler spread can achieve a good BER performance.

A bandwidth-efficient pilot-symbol-aided technique is proposed for use with trellis-coded modulation (TCM). Computer simulation has been used to assess the effects of the technique on the bit error rate (BER) performances of trellis-coded 16-ary quadrature amplitude modulation (TC-16QAM) in the flat Rician and shadowed Rician fading channels corrupted with additive white Gaussian noise. The results have shown that the proposed technique needs a very low bandwidth redundancy and can work effectively at low signal-to-noise ratios, so it is suitable for use with TCM.

The authors describe a carrier recovery loop for coherent demodulation of a 16-ary differentially encoded quadrature-amplitude-modulation (DEQAM) signal. The loop uses a decision-feedback technique. The bit-error rate (BER) performance of the modem in the presence of noisy carrier reference signals provided by the loop and the transient response of the loop in the absence and presence of additive white Gaussian noise are investigated by means of computer simulation. Results indicate that the performance of the loop is dependent on the error rate. At BER=10/sup -4/ and in the presence of frequency offset, the loop achieves lock within 75 symbol intervals, and the signal-to-noise ratio degradation is 1.5 dB. >

The effects of AM-AM and/or AM-PM conversions of a high-power amplifier (HPA) on the performance of a bandlimited 16-ary differentially encoded quadrature amplitude modulated (16-ary DEQAM) system are investigated in the presence of additive white Gaussian noise. The results obtained by computer simulation show that a combination of moderate output backoff from saturation of the HPA and prerotation of the transmitted signal constellation can considerably improve the system performance. The performance of the proposed system is compared to that of a 16-ary DEQAM system using an RF predistorter. The results show that the degradation due to the AM-AM and AM-PM conversion effects of the HPA tested is much less than that of the sum of the degradations caused by the individual AM-AM and AM-PM conversion effects. Also, the AM-AM signal distortion causes more degradation than does the AM-PM signal distortion, under the same assumed conditions. With pre-rotation and moderate output backoff values of the HPA, the AM-PM distortion in the received signal-space vectors can nearly be eliminated. >

A comparative study is presented of a 16-ary differentially encoded quadrature-amplitude-modulation (DEQAM) and 16-ary differentially encoded phase-shift keying (DEPSK) transmission through a nonlinear satellite channel in the presence of additive white Gaussian noise (AWGN) and adjacent channel interference (ACI). It is assumed that the high-power amplifier of each earth station introduces both AM/AM and AM/PM conversion effects into the transmitted signals; the satellite transponder is assumed to be linear. the results show that in the presence of AWGN and ACI, 16-ary DEQAM systems outperform 16-ary DEPSK systems over nonlinear channels. >

The paper studies the bit-error-rate (BER) performance of a fade-compensated 16 QAM with two-branch postdetection selection combining diversity reception in the Rayleigh fading channels. A pilot symbol-aided (PSA) technique that uses both pilot symbols and data symbols is employed for fading compensation. Computer simulation results have shown that, the use of diversity reception technique can significantly improve the BER performance when the normalized delay between the signals at the two receivers is small. It is also shown that, the error-floor is sensitive to the normalized delay, but relatively less sensitive to the power ratio between the signals at the two receivers.

In the current digital cellular systems, modulation with low spectral efficiency such as /spl pi//4-quaternary-phase-shift keying (/spl pi//4-QPSK) or Gaussian-minimum-shift keying (GMSK) are usually used. To cope with the ever-increasing demands for system capacity, modulation such as 16-ary modulation (16QAM) or 16-ary phase-shift keying (16PSK) are expected to be used in future. The paper studies the effects of a pilot symbol-aided (PSA) technique on the performance of 16QAM and 16PSK in frequency-selective Rayleigh fading channels corrupted by co-channel interference and Gaussian noise. The PSA technique employs both the pilot symbols and data symbols for fading estimation. Computer simulation results have shown that significant improvements on bit-error rate performance of the signals can be achieved through the use of the PSA technique.