Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

Non-homologous sex chromosomes in two species of the genus Eigenmannia (Teleostei : Gymnotiformes)

The Neotropical genus Eigenmannia is a fish group with unknown species diversity where representatives possess a broad range of chromosomal sex determining systems namely XY/XX, X1X2Y/X1X1X2X2, ZZ/ZW as well as homomorphic sex chromosomes. To test the homology of two heteromorphic XY sex chromosome systems present in two sympatric populations, reciprocal cross-species FISH experiments were performed using probes derived by microdissection of X and Y chromosomes present in analyzed specimens of Eigenmannia virescens and Eigenmannia sp.2, respectively. While X and Y paint probes hybridized to species-specific sex chromosomes, in reciprocal cross-FISH both probes hybridized exclusively to autosomes. The result suggests multiple independent origins of the XY systems in the analyzed populations. Copyright (C) 2008 S. Karger AG, Basel.

Repetitive DNA probe linked to sex chromosomes in hybrids between Neotropical fish Leporinus macrocephalus and Leporinus elongatus (Characiformes, Anostomidae)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Morphologically differentiated sex chromosomes in neotropical freshwater fish

A general survey of the occurrence of morphologically differentiated sex chromosomes in the neotropical freshwater fishes is presented. The total number of 32 occurrences involving simple XX-XY and ZZ-ZW, and multiple X1X2Y, XY1Y2 and ZW1W2 sex chromosome systems is described, with comments on the aspects of sex chromosome evolution in this fish fauna. The occurrence of different sex chromosome systems in related species of the same genus, or in different populations of the same nominal species, involving male and sometimes female heterogamety, and differences in the molecular composition of sex-linked heterochromatin, are considered as indicative of the early stage of sex chromosomes evolution in fish.

Chromosomes of Crossopriza lyoni (Blackwall 1867), intraindividual numerical chromosome variation in Physocyclus globosus (Taczanowski 1874), and the distribution pattern of NORs (Araneomorphae, Haplogynae, Pholcidae)

Pholcidae (Haplogynae) encompasses 967 described species, of which only 14 have been cytogenetic analyzed. Several chromosomal features have already been described including presence of meta- and sub-metacentric chromosomes and sex determination chromosome system (SDCS) of the X, X1X2Y, and X1X2 types, which contrast with the telo- and acrocentric chromosomes and SDCS of the X1X2 type typical of entelegyne spiders. To obtain further cytogenetic information for the family, we examined two pholcid species, Crossopriza lyoni (Blackwall 1867) and Physocyclus globosus (Taczanowski 1874) using both conventional staining and silver staining techniques. Crossopriza lyoni exhibited 2n = 23 = 22 + X in males and 2n = 24 = 22 + XX in females, while P. globosus showed 2n = 15 = 14 + X and 4n = 30 = 28 + 2X, both in male adults, 2n = 16 = 14 + XX in female adults and embryos, and 2n = 15 = 14 + X in male embryos. Both species revealed predominately metacentric and submetacentric chromosomes and a SDCS of the X/XX type. The cytogenetic data obtained in this work and those already recorded for C. lyoni indicate interpopulational and intraspecific numerical chromosome variation, suggesting the presence of chromosomal races or cytotypes in this species. The intraindividual numerical chromosome variation observed in male adult specimens of P. globosus may be explained by the presence of cytoplasmatic bridges between germ cells. The use of the silver staining technique to reveal the nucleolar organizer region (NOR) showed that chromosome pairs 4 and 6 and the X chromosome in C. lyoni are telomeric NOR-bearers, and that the chromosome pair 2 in P. globosus possesses a proximal NOR in the long arm.

Autonomous greenhouse gas sampling using multiple robotic boats

Accurately quantifying total greenhouse gas emissions (e.g. methane) from natural systems such as lakes, reservoirs and wetlands requires the spatial-temporal measurement of both diffusive and ebullitive (bubbling) emissions. Traditional, manual, measurement techniques provide only limited localised assessment of methane flux, often introducing significant errors when extrapolated to the whole-of-system. In this paper, we directly address these current sampling limitations and present a novel multiple robotic boat system configured to measure the spatiotemporal release of methane to atmosphere across inland waterways. The system, consisting of multiple networked Autonomous Surface Vehicles (ASVs) and capable of persistent operation, enables scientists to remotely evaluate the performance of sampling and modelling algorithms for real-world process quantification over extended periods of time. This paper provides an overview of the multi-robot sampling system including the vehicle and gas sampling unit design. Experimental results are shown demonstrating the system’s ability to autonomously navigate and implement an exploratory sampling algorithm to measure methane emissions on two inland reservoirs.

Analysis of the MAP/G(a,b)/1/N queue with multiple vacations

This paper deals with a batch service queue and multiple vacations. The system consists of a single server and a waiting room of finite capacity. Arrival of customers follows a Markovian arrival process (MAP). The server is unavailable for occasional intervals of time called vacations, and when it is available, customers are served in batches of maximum size ‘b’ with a minimum threshold value ‘a’. We obtain the queue length distributions at various epochs along with some key performance measures. Finally, some numerical results have been presented.

Task assignment in a multiprocessor system

One of the key problems in the design of any incompletely connected multiprocessor system is to appropriately assign the set of tasks in a program to the Processing Elements (PEs) in the system. The task assignment problem has proven difficult both in theory and in practice. This paper presents a simple and efficient heuristic algorithm for assigning program tasks with precedence and communication constraints to the PEs in a Message-based Multiple-bus Multiprocessor System, M3, so that the total execution time for the program is minimized. The algorithm uses a cost function: “Minimum Distance and Parallel Transfer” to minimize the completion time. The effectiveness of the algorithm has been demonstrated by comparing the results with (i) the lower bound on the execution time of a program (task) graph and (ii) a random assignment.

A Low ML-Decoding Complexity, High Coding Gain, Full-Rate, Full-Diversity STBC for 4 x 2 MIMO System

This paper proposes a full-rate, full-diversity space-time block code(STBC) with low maximum likelihood (ML) decoding complexity and high coding gain for the 4 transmit antenna, 2 receive antenna (4 x 2) multiple-input multiple-output (MIMO) system that employs 4/16-QAM. For such a system, the best code known is the DjABBA code and recently, Biglieri, Hong and Viterbo have proposed another STBC (BHV code) for 4-QAM which has lower ML-decoding complexity than the DjABBA code but does not have full-diversity like the DjABBA code. The code proposed in this paper has the same ML-decoding complexity as the BHV code for any square M-QAM but has full-diversity for 4- and 16-QAM. Compared with the DjABBA code, the proposed code has lower ML-decoding complexity for square M-QAM constellation, higher coding gain for 4- and 16-QAM, and hence a better codeword error rate (CER) performance. Simulation results confirming this are presented.

On the improvement of diversity-multiplexing gain tradeoff in a training based TDD-simo system

This paper investigates the diversity-multiplexing gain tradeoff (DMT) of a time-division duplex (TDD) single-input multiple-output (SIMO) system with perfect channel state information (CSI) at the receiver (CSIR) and partial CSI at the transmitter (CSIT). The partial CSIT is acquired through a training sequence from the receiver to the transmitter. The training sequence is chosen in an intelligent manner based on the CSIR, to reduce the training length by a factor of r, the number of receive antennas. We show that, for the proposed training scheme and a given channel coherence time, the diversity order increases linearly with r for nonzero multiplexing gain. This is a significant improvement over conventional orthogonal training schemes.

Design of a constrained high data rate CDMA system

This paper deals with the design of a high data rate code-division multiple-access (CDMA) system under a speci¯ed jamming mar- gin speci¯cation as well as hardware and band-width limitations. Several choices had to be made in coming up with the design such as specify-ing the number of subcarriers, choice of spread-ing codes and the nature of the modulation.The rationale behind each of the choices made is given. Descriptions of transmitter and receiver are also included. Relevant simulations of cross-correlation are also provided.

Power Controlled Reverse Channel Training Achieves an Infinite Diversity Order in a TDD-SIMO System with Perfect CSIR

In this letter, we analyze the Diversity Multiplexinggain Tradeoff (DMT) performance of a training-based reciprocal Single Input Multiple Output (SIMO) system. Assuming Channel State Information (CSI) is available at the Receiver (CSIR), we propose a channel-dependent power-controlled Reverse Channel Training (RCT) scheme that enables the transmitter to directly estimate the power control parameter to be used for the forwardlink data transmission. We show that, with an RCT power of (P) over bar (gamma), gamma > 0 and a forward data transmission power of (P) over bar, our proposed scheme achieves an infinite diversity order for 0 <= g(m) < L-c-L-B,L-tau/L-c min(gamma, 1) and r > 2, where g(m) is the multiplexing gain, L-c is the channel coherence time, L-B,L-tau is the RCT duration and r is the number of receive antennas. We also derive an upper bound on the outage probability and show that it goes to zero asymptotically as exp(-(P) over bar (E)), where E (sic) (gamma - g(m)L(c)/L-c-L-B,L-tau), at high (P) over bar. Thus, the proposed scheme achieves a significantly better DMT performance compared to the finite diversity order achieved by channel-agnostic, fixed-power RCT schemes.

Power-Controlled Reverse Channel Training in a Multiuser TDD-MIMO Spatial Multiplexing System With CSIR

This paper considers the design of a power-controlled reverse channel training (RCT) scheme for spatial multiplexing (SM)-based data transmission along the dominant modes of the channel in a time-division duplex (TDD) multiple-input and multiple-output (MIMO) system, when channel knowledge is available at the receiver. A channel-dependent power-controlled RCT scheme is proposed, using which the transmitter estimates the beamforming (BF) vectors required for the forward-link SM data transmission. Tight approximate expressions for 1) the mean square error (MSE) in the estimate of the BF vectors, and 2) a capacity lower bound (CLB) for an SM system, are derived and used to optimize the parameters of the training sequence. Moreover, an extension of the channel-dependent training scheme and the data rate analysis to a multiuser scenario with M user terminals is presented. For the single-mode BF system, a closed-form expression for an upper bound on the average sum data rate is derived, which is shown to scale as ((L-c - L-B,L- tau)/L-c) log logM asymptotically in M, where L-c and L-B,L- tau are the channel coherence time and training duration, respectively. The significant performance gain offered by the proposed training sequence over the conventional constant-power orthogonal RCT sequence is demonstrated using Monte Carlo simulations.

Channel estimation at the transmitter in a reciprocal MIMO spatial multiplexing system

This paper considers the problem of channel estimation at the transmitter in a spatial multiplexing-based Time Division Duplex (TDD) Multiple Input Multiple Output (MIMO) system with perfect CSIR. A novel channel-dependent Reverse Channel Training (RCT) sequence is proposed, using which the transmitter estimates the beamforming vectors for forward link data transmission. This training sequence is designed based on the following two metrics: (i) a capacity lower bound, and (ii) the mean square error in the estimate. The performance of the proposed training scheme is analyzed and is shown to significantly outperform the conventional orthogonal RCT sequence. Also, in the case where the transmitter uses water-filling power allocation for data transmission, a novel RCT sequence is proposed and optimized with respect to the MSE in estimating the transmit covariance matrix.

Gêneros múltiplos: binarismos versus pluralismo em Stone butch blues e Stella Manhattan

Gêneros múltiplos: binarismos versus pluralismo em Stone Butch Blues e Stella Manhattan almeja discutir a arbitrariedade do sistema de sexo e gênero da sociedade ocidental contemporânea, que categoriza e fixa o sexo biológico dos indivíduos em duas exclusivas expressões de gênero possíveis: homem/masculino x mulher/feminino. Casos em que a referida consonância entre sexo e gênero não ocorre são tratados como aberrações passíveis de punições físicas e morais. O corpus literário desta tese é formado por romances da literatura norte-americana (Stone Butch Blues, de Leslie Feinberg) e brasileira (Stella Manhattan, de Silviano Santiago). A introdução discorre brevemente acerca da história e da teoria do romance, objeto principal deste estudo, posta em prática por renomados romancistas. O segundo capítulo ocupa-se de questões teóricas sobre sexo e gênero, importantes para o embasamento da discussão literária, além da trama e fortuna crítica sobre Stone Butch Blues, incluindo uma análise do autor deste trabalho sobre o referido romance. O terceiro capítulo discute outras questões teóricas, desta vez sobre teoria da Literatura e de gênero, além de apresentar a fortuna crítica de Stella Manhattan, culminando também com uma análise crítica do autor desta tese sobre o romance brasileiro. Ao final da pesquisa, objetiva-se demonstrar que o binário de gênero socialmente imposto precisa, em realidade, ceder espaço a um sistema plural e fluido, no qual a biologia perde seu papel determinante na masculinidade ou feminilidade do indivíduo