Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome

The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity-by-descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphicmarkers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. (C) 2003 Wiley-Liss, Inc.

Vectorized algorithms for quadtree construction and descent

This paper presents vectorized methods of construction and descent of quadtrees that can be easily adapted to message passing parallel computing. A time complexity analysis for the present approach is also discussed. The proposed method of tree construction requires a hash table to index nodes of a linear quadtree in the breadth-first order. The hash is performed in two steps: an internal hash to index child nodes and an external hash to index nodes in the same level (depth). The quadtree descent is performed by considering each level as a vector segment of a linear quadtree, so that nodes of the same level can be processed concurrently. © 2012 Springer-Verlag.

Common Descent of B Chromosomes in Two Species of the Fish Genus Prochilodus (Characiformes, Prochilodontidae)

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Avaliação por RAPD de plantas de abacaxizeiro cultivar Smooth Cayenne derivadas do seccionamento do talo e cultura de tecidos

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

Performance of advanced generation from a hybrid Japanese cucumber

A endogamia reduz o vigor em plantas pela diminuição da proporção de loci heterozigotos. Entretanto, a influência da endogamia é diferente entre as espécies. O objetivo deste trabalho foi avaliar a depressão causada por endogamia em uma população de pepino do tipo japonês. A partir do intercruzamento entre plantas do híbrido Natsu suzumi foi obtida a geração F2, considerada como população S0. Obtiveram-se progênies S1, S2, S3, S4 e S5, através de autofecundações sucessivas pelo método do SSD ('Single Seed Descent'). Foram sete tratamentos (híbrido Natsu suzumi, populações S0 a S5) e o delineamento experimental foi em blocos ao acaso, com seis repetições e cinco plantas por parcela cultivadas em ambiente protegido de 21/08/2002 à 29/11/2002. Foram avaliados o número de folhas, semanalmente, o número e a massa de frutos, total e comercial, número de nós e porcentagem de nós com brotações laterais. Na comparação entre as populações S0 a S5 não foram observadas diferenças para todas as características avaliadas demonstrando não haver perda de vigor por endogamia nesta população.

Seleção para aumento de produtividade e qualidade de frutos em abobrinha 'Piramoita' comparando dois métodos de melhoramento

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

Caracterização da produção em toros do cogumelo comestível Lentinula edodes (Berk.) Pegler na região oeste do Estado de São Paulo

This study was carried out in the towns of Dracena, Junquciropolis, Mirandopolis, Aliancas, Ilha Solteira, Castilho, Aracatuba, Birigui and Guararapes, São Paulo State, by surveying 17 Shiitake growers through a questionnaire. Data pertaining to the stages of log-Shiitake growing, recording and characterization of growers and growing systems were entered into Microsoft Excel for Windows. The results showed that Shiitake cultivation is recent and increasing in this region, and that growers have a high education level. Shiitake cultivation is mainly located in rural areas, with both Brazilians of Japanese descent and native Brazilians growing it. The most commonly used trees are eucalyptus and mango. The high level of log contamination is perhaps due to growing without temperature or moisture control and to the inappropriate growing system.. In 2004, there were 45,000 Shiitake-inoculated logs in this region, and the yield stood around 200 g of fresh mushroom/log. The mushrooms are picked in boxes of 200 g, and are sold mainly to Ceasa in open markets.

Analog neural nonderivative optimizers

Continuous-time neural networks for solving convex nonlinear unconstrained;programming problems without using gradient information of the objective function are proposed and analyzed. Thus, the proposed networks are nonderivative optimizers. First, networks for optimizing objective functions of one variable are discussed. Then, an existing one-dimensional optimizer is analyzed, and a new line search optimizer is proposed. It is shown that the proposed optimizer network is robust in the sense that it has disturbance rejection property. The network can be implemented easily in hardware using standard circuit elements. The one-dimensional net is used as a building block in multidimensional networks for optimizing objective functions of several variables. The multidimensional nets implement a continuous version of the coordinate descent method.

Tireóide ectópica cervical lateral: Relato de caso e revisão da literatura

Tireóide ectópica é qualquer tecido tireoideano localizado fora de sua topografia habitual, podendo apresentar-se na linha mediana do pescoço ou, mais raramente, na região cervical lateral. Algumas teorias tentam explicar a origem do tecido tireoideano ectópico: 1. falha na descida da glândula; 2. seqüestro de nódulos tireoideanos; 3. presença de tecido tireoideano na cápsula de linfonodos cervicais; 4. formação teratomatosa; 5. Secundário a anomalias branquiais. Na abordagem diagnóstica, diversos exames têm sido utilizados, sendo o diagnóstico definitivo algumas vezes fornecido apenas pelo estudo histopatológico. Apesar das controvérsias em relação às abordagens terapêuticas apresentadas na literatura, é necessário um planejamento rigoroso para evitar iatrogenias. Conclui-se que a presença de tecido tireoideano ectópico deve ser lembrada no diagnóstico diferencial de massas cervicais laterais, e sua origem histológica considerada, sendo na maioria das vezes metástase de um carcinoma tireoideano oculto. Os autores relatam um caso de tecido tireoideano ectópico lateral no pescoço, em paciente do sexo feminino com bócio colóide mergulhante. Foram realizadas considerações importantes sobre dismorfogênese tireoideana, métodos diagnósticos e opções de tratamento, com revisão da literatura das últimas cinco décadas.

Short- and long-term reproductive effects of prenatal and lactational growth restriction caused by maternal diabetes in male rats

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

Ultrasonographic evaluation of the conceptus from days 10 to 60 of pregnancy in jennies

Daily ultrasound examinations were conducted from Days 10 to 60 (ovulation = Day 0) of pregnancy to monitor the conceptus in jennies (n = 12). The embryonic vesicle was first detected on Day 11.5 +/- 0.9 (mean +/- SD; range 10 to 13d) and was mobile until movement ceased (fixation) on Day 15.5 +/- 1.4 (range, 13 to 18d). The vesicle was spherical from Days 10 to 18 (mean growth rate, 3.2 mm/d), non spherical (irregular) with a reduced growth rate (0.5 mm/d) from Days 19 to 29, and then grew at a moderate rate (1.6 mm/d) up to Day 46. on average, detection of the embryo proper (consistently located on the ventral aspect of the yolk sac) and embryonic heartbeat were Days 20.7 +/- 1.2 and 23.5 +/- 1.3, respectively. Formation of the allantoic sac was first detected on Day 24.4 +/- 1.7 and was complete on Day 36.8 +/- 1.6. Descent of the fetus (and formation of the umbilical cord) began on Day 37.9 +/- 1.7 and was complete on Day 44.1 +/- 2.1. Crown-ramp length averaged 3.7, 15.4, 22.7, 37.5 and 59.6 mm on Days 20, 30, 40, 50 and 60, respectively. In general, morphologic features and dates of occurrence were similar to those reported previously in the mare. (C) 1998 by Elsevier B.V.

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition appears to affect only the extremities, with no other systemic manifestations reported. Recently, a locus for acheiropodia was mapped on chromosome 7q36. Herein we report the narrowing of the critical region for the acheiropodia gene and the subsequent identification of a common mutation in C7orf2-the human orthologue of the mouse Lmbr1 gene-that is responsible for the disease. Analysis of five families with acheiropodia, by means of 15 polymorphic markers, narrowed the critical region to 1.3 cM, on the basis of identity by descent, and to <0.5 Mb, on the basis of physical mapping. Analysis of C7orf2, the human orthologue of the mouse Lmbr1 gene, identified a deletion in all five families, thus identifying a common acheiropodia mutation. The deletion was identified at both the genomic-DNA and mRNA level. It leads to the production of a C7orf2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3. Given the nature of the acheiropodia phenotype, it appears likely that the Lmbr1 gene plays an important role in limb development.

Paternal treatment with cisplatin impairs reproduction of adult male offspring in rats

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Maternal exposure to aqueous extract of Jacaranda decurrens: Effects on reproductive system in male rats

Context: Jacaranda decurrens subsp. symmetrifoliolata Farias & Proenca (Bignoniaceae) is a species widely used for their medicinal properties. At least to our known, no study has been conducted concerning its toxicological profile after gestational and lactational exposure.Objective: The present study was carried out to evaluate the effects of J. decurrens on development of the reproductive system in male rats.Materials and methods: Pregnant rats were treated daily (gavage) with 250 or 500 mg/kg/day of aqueous extract of J. decurrens or vehicle, from day 12 of pregnancy to day 21 of lactation.Results and Discussion: Both doses of J. decurrens significantly anticipated (p < 0.05) the age of testicular descent to the scrotum, a parameter indicative of puberty initiation. Furthermore, at puberty, there was a significant reduction (p < 0.05) in testicular and epididymis weights in the offspring exposed to the higher dose of extract, without effect on sperm production and the histology of reproductive organs. on the other hand, at adulthood, the reproductive parameters analyzed did not differ among groups.Conclusions: J. decurrens, in this experimental model, interfered with the initial development of the reproductive system, but without lasting effects on sperm production in adulthood.

Effects of Gestational and Lactational Fenvalerate Exposure on Immune and Reproductive Systems of Male Rats

The aim of this study was to determine the consequent reproductive developmental and immunotoxic effects due to exposure to fenvalerate during pregnancy and lactation in male offspring of maternal-treated rats. Pregnant rats were treated daily by oral gavage with 40 or 80 mg/kg of fenvalerate or corn oil (vehicle, control), from d 12 of pregnancy to d 21 of lactation. Immune and reproductive developmental effects were assessed in male offspring at postnatal days (PND) 40 (peripuberty), 60 (postpuberty), and 90 (sexual maturity). Treatment with the higher dose (80 mg/kg) resulted in convulsive behavior, hyperexcitability, and mortality in 45% of the dams. Fenvalerate was detected in the fetus due to placental transfer, as well as in pups due to breast-milk ingestion, persisting in male offspring until PND 40 even though pesticide treatment was terminated on PND 20. However, fenvalerate did not produce marked alterations in age of testicular descent to the scrotum and prepucial separation, parameters indicative of puberty initiation. In contrast, at puberty, there was a reduction in testicular weight and sperm production in male offspring of maternal-treated rats. At adulthood, the sperm counts and fertility did not differ between control and treated groups. Testosterone levels were not changed at any time during reproductive development. Similarly, no apparent exposure-related effects were detected in the histological structures of the lymphohematopoietic system. Data indicate that fenvalerate, in this experimental model, interfered with initial development of the male reproductive system, but that these effects on sperm production or fertility did not persist into adulthood. There was no apparent evidence that fenvalerate altered testosterone levels or produced a disruption in male endocrine functions.