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Introduction: Migration is a natural phenomenon that includes annual movements of many bird species in response to seasonal cycles. With approximately one third of all living bird species, South America has an important avifauna, and many migrants land in Brazil at stopping points and wintering sites. Objective: To identify associations between migrant birds and coastal vegetation, and environmental influence of on migration. Methods: At 10 points along the coast of Piauí State, Brazil, we made visual censuses and mist net captures, between April 2009 and February 2016. Results: We identified 82 migrant bird species (13 orders; 28 families) that represented 41 intracontinental migrating species, 26 northern visiting species, 14 nomad species and one vagrant species. The richness peaks were at the beginning and end of both dry and rainy seasons, matching insolation and atmospheric pressure. There were spatial pattern differences among vegetation complexes. Chrysolampis mosquitus is an indicator of caatinga vegetation, Numenius phaeopus of wetland, Charadrius collaris of non-flooding fields, Rostrhamus sociabilis of forest-grassland transition, and Columbina picui of orchards. Despite differences in number and species composition within vegetation types, the temporal pattern in species richness was similar among flooded fields, non-flooded fields, and transition grassland categories. Conclusions: Migrant birds occupy specific environments during their permanence along the coast of Piauí State, with richness matching insolation and atmospheric pressure.

Introducción: La migración es un fenómeno natural que incluye los movimientos anuales de muchas especies de aves en respuesta a los ciclos estacionales. Con aproximadamente un tercio de todas las especies de aves conocidas, América del Sur tiene una avifauna importante y muchas aves migratorias tienen puntos de parada e invernada en Brasil. Objetivo: Identificar asociaciones entre las aves migratorias y la vegetación costera, y la influencia del medio ambiente en la migración. Métodos: En 10 puntos a lo largo de la costa del Estado de Piauí, Brasil, realizamos censos visuales y capturas con redes de niebla, entre abril 2009 y febrero 2016. Resultados: Identificamos 82 especies de aves migratorias (13 órdenes; 28 familias) que representaron 41 especies migratorias intracontinentales, 26 especies visitantes del norte, 14 especies nómadas y una especie vagante. Los picos de riqueza se dieron al principio y al final de las estaciones seca y lluviosa, coincidiendo con la insolación y la presión atmosférica. Hubo diferencias en el patrón espacial entre los complejos de vegetación. Chrysolampis mosquitus es un indicador de vegetación de caatinga, Numenius phaeopus de humedales, Charadrius collaris de campos que no se inundan, Rostrhamus sociabilis de transición bosque-pastizales y Columbina picui de huertos. A pesar de las diferencias en el número y composición de especies dentro de los tipos de vegetación, el patrón temporal en la riqueza de especies fue similar entre las categorías de campos inundados, campos no inundados y pastizales de transición. Conclusiones: Las aves migratorias ocupan ambientes específicos durante su permanencia a lo largo de la costa del estado de Piauí, con una riqueza acorde con la insolación y la presión atmosférica.

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Yin and Yang 1 gene (YY1; MIM#600,013) is recognized as a dual transcriptional activating and repressing factor, RNA-binding protein, and 3D chromatin regulator, with multi roles in neurodevelopmental and maintenance pathways. YY1 haploinsufficiency caused either by heterozygous sequence variants or deletions involving the whole gene has been recently associated with Gabriele-de Vries syndrome (GADEVS), a rare congenital autosomal dominant condition, leading to intellectual disability (ID) and multiple physical/behavioural abnormalities. Herein, we describe clinical and molecular findings from a Brazilian female harbouring a de novo missense pathogenic variant in YY1 gene (NM_003403.5:c.1106A > G; p.Asn369Ser) found by whole exome sequencing with potential implications for protein structure and function. Undescribed or uncommon clinical features in this patient included non-febrile seizures, severe scoliosis, hearing impairment, and chorioretinitis. Further bioinformatics analyses using YY1-other protein interaction networks reinforced the involvement of YY1 interactors in such phenotypes, in exception of chorioretinitis. Moreover, X-chromosome inactivation (XCI) skewing was evidenced in the patient and attributed to the haploinsufficiency of YY1, which direct and indirectly interacts with numerous XCI key regulators. Besides expanding the mutational and phenotype spectrum of GADEVS, our results highlight the role of YY1 as an essential autosomal regulator of XCI epigenetic process.

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Intellectual disability (ID) affects 30% more males than females. This sex bias can be attributed to the enrichment of genes on the X chromosome playing essential roles in the central nervous system and their hemizygous state on males. Moreover, as a result of X chromosome inactivation (XCI), most genes on one of the X chromosomes in female somatic cells are epigenetically silenced, so that females carrying X-linked variants are not expected to be so severely affected as males. Consequently, the knowledge about X-linked ID (XLID) in females is still scarce. Herein, we used extreme XCI skewing (≥ 90%) to predict X-linked variants in females with idiopathic ID. XCI profiles from 53 probands were estimated from blood and buccal mucosa through a methylation-sensitive AR/RP2 assay. DNA samples with extreme XCI skewing were then submitted to array-comparative genomic hybridization and whole-exome sequencing. Seven females (13.2%) exhibited extreme XCI skewing, a percentage significantly higher than expected for healthy females in our population. XLID-potentially related variants were identified in five patients with extreme XCI skewing, including one pathogenic rstructural rearrangement [der(X) chromosome from a t(X;2)] and four single nucleotide variants in NLGN4X, HDAC8, TAF1, and USP9X genes, two of which affecting XCI escape genes. XCI skewing showed to be an outstanding approach for the characterization of molecular mechanisms underlying XLID in females. Beyond expanding the spectrum of variants/phenotypes associated with ID, our results pointed to compensatory biological pathways underlying XCI and uncover new insights into the involvement of escape genes on XLID, impacting genetic counseling.

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We aimed to evaluate the chemical composition, production yield, and economic viability of Minas Frescal cheese produced with milk from buffaloes supplemented with açai seed as a substitute for corn meal. The experiment used five Murrah crossbred buffaloes with a mean body weight of 577 ± 20.4 kg, maintained under Megathyrsus maximus cv. Mombaça grazing in a 5 × 5 Latin square design. The treatments comprised four concentrate supplements, in which açai seed replaced corn meal at 0, 33, 66, and 100% substitution, and a control with no concentrate supplementation. Replacement of corn meal with açai seed in buffalo diet had no effect on chemical composition of produced cheese (P > 0.05) nor was there any difference in chemical composition between the control group and animals supplemented with concentrate (P > 0.05). The adjusted cheese yield (kg cheese/cow/day) demonstrated a quadratic pattern with maximum production at 33% açai seed substitution (P < 0.05). Hence, the profitability index (percentage of gross revenue) was greatest at this replacement level. In conclusion, 33% açai seed replacement of corn meal in the supplement of buffalo under a grazing regime improved the individual yield of Minas Frescal cheese without changing its chemical composition.

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BACKGROUND/AIMS: Our aim was to investigate a geographical cluster of Huntington's disease (HD) in Ervalia, a Brazilian town of Minas Gerais state (MG). Therefore, we calculated the minimum prevalence of HD in Ervalia, known to have many HD affected families. We also determined the genetic profile of the polymorphic CAG region of the HTT gene in 32 subjects of these affected families. METHODS: A descriptive cross-sectional study was performed, starting in January 2011 until June 2013. Individuals who participated in the survey were all from Ervalia town, MG. RESULTS: The minimum prevalence rate found was 7.2/10,000 people, higher than the worldwide prevalence. CONCLUSION: The minimum prevalence of HD in Ervalia was at least 10.3- to 14.4-fold greater than that of the world population, although it does not represent the overall prevalence of the disease in Brazil. Certainly an expanded survey in the country will lead to a lower prevalence estimate than Ervalia's.

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Recently, we defined a minimal overlapping region for causal Xp11.22 copy number gains in males with intellectual disability (ID), and identified HECT, UBA and WWE domain-containing protein-1 (HUWE1) as the primary dosage-sensitive gene, whose overexpression leads to ID. In the present study, we used this minimal interval to search for HUWE1 copy number variations by quantitative polymerase chain reaction in a large cohort of Brazilian males with idiopathic ID. We detected two unrelated sporadic individuals with syndromic ID carrying unique overlapping duplications encompassing HUWE1. Breakpoint junction analysis showed a simple tandem duplication in the first patient, which has probably arisen by microhomology-mediated break-induced repair mechanism. In the second patient, the rearrangement is complex having an insertion of an intrachromosomal sequence at its junction. This kind of rearrangement has not been reported in Xp11.22 duplications and might have emerged by a replication- or recombination-based mechanism. Furthermore, the presence of infantile seizures in the second family suggests a potential role of increased KDM5C expression on epilepsy. Our findings highlight the importance of microduplications at Xp11.22 to ID, even in sporadic cases, and reveal new clinical and molecular insight into HUWE1 copy number gains.

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BACKGROUND: Mental retardation (MR) is a heterogeneous condition that affects 2-3% of the general population and is a public health problem in developing countries. Chromosomal abnormalities are an important cause of MR and subtelomeric rearrangements (STR) have been reported in 4-35% of individuals with idiopathic MR or an unexplained developmental delay, depending on the screening tests and patient selection criteria used. Clinical checklists such as that suggested by de Vries et al. have been used to improve the predictive value of subtelomeric screening. FINDINGS: Fifteen patients (1-20 years old; five females and ten males) with moderate to severe MR from a genetics outpatient clinic of the Gaffrée and Guinle Teaching Hospital (HUGG) of the Federal University of Rio de Janeiro State (UNIRIO) were screened with Multiprobe T FISH after normal high resolution karyotyping. No subtelomeric rearrangements were detected even though the clinical score of the patients ranged from four to seven. CONCLUSION: In developing countries, FISH-based techniques such as Multiprobe T FISH are still expensive. Although Multiprobe T FISH is a good tool for detecting STR, in this study it did not detect STR in patients with unexplained MR/developmental delay even though these patients had a marked chromosomal imbalance. Our findings also show that clinical scores are not reliable predictors of STR.

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We studied the allelic profile of CAG and CCG repeats in 61 Brazilian individuals in 21 independent families affected by Huntington's disease (HD). Thirteen individuals had two normal alleles for HD, two had one mutable normal allele and no HD phenotype, and forty-six patients carried at least one expanded CAG repeat allele. Forty-five of these individuals had one expanded allele and one individual had one mutable normal allele (27 CAG repeats) and one expanded allele (48 CAG repeats). Eleven of these forty-five subjects had a mutant allele with reduced penetrance, and thirty-four patients had a mutant allele with complete penetrance. Inter- and intragenerational investigations of CAG repeats were also performed. We found a negative correlation between the number of CAG repeats and the age of disease onset (r=-0.84; P<0.001) and no correlation between the number of CCG repeats and the age of disease onset (r=0.06). We found 40 different haplotypes and the analysis showed that (CCG)(10) was linked to a CAG normal allele in 19 haplotypes and to expanded alleles in two haplotypes. We found that (CCG)(7) was linked to expanded CAG repeats in 40 haplotypes (95.24%) and (CCG)(10) was linked to expanded CAG repeats in only two haplotypes (4.76%). Therefore, (CCG)(7) was the most common allele in HD chromosomes in this Brazilian sample. It was also observed that there was a significant association of (CCG)(7) with the expanded CAG alleles (χ(2)=6.97, P=0.0084). Worldwide, the most common CCG alleles have 7 or 10 repeats. In Western Europe, (CCG)(7) is the most frequent allele, similarly to our findings.

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Some researchers have described team sports as complex, open, and hierarchical systems. This study aimed to investigate and describe how the game of futsal could be characterized as a dynamic adaptive process. One game, which included participation by two amateur teams, was analyzed by examining players' individual (space occupied, skills with and without ball) and collective actions (attacks and defenses). Data were collected through time-continuum notation, and were analyzed through frequencies and clustering, using trend analysis and multiple comparisons, and Ward's minimum variance method with Euclidean distance, respectively. Results revealed four attack patterns for each team, with four defense patterns for one (Blue), and seven for the other (Red), and they showed within-pattern variability. All were performed in an unpredictable manner, with no absolute correspondence between attacks and defenses. The futsal game as an adaptive process was characterized by changing intra- and inter-patterns.

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The objective was to evaluate the degradability of dry matter, crude protein and neutral detergent fiber of elephant grass silage with different components of mesquite. It was used a completely randomized design with twelve treatments and four replications, and silages: 100% elephant grass, elephant grass 70% + 30% bran full mesquite, 70% of elephant grass + 30% pods mesquite, 70% of elephant grass + 30% starch mesquite. The elephant grass was cut to 100 days after sprouting, and ensiled with crushed mesquite components. After 60 days, the silos were opened and samples were collected for pre-drying, grinding and subsequent analysis and incubation. Samples of each silage were incubated in the rumen of three steers Holstein X Gir for periods of 0, 3, 6, 12, 24, 48, 72, 96, 120 and 144 hours. For the set of degradation parameters studied, it was observed that the different components of mesquite in the elephant grass silage increased the potential degradability and effectively increases the degradability of dry matter and crude protein. The higher degradability was observed in mesquite starch silage. The mesquite and its components constitute a viable alternative to be added in the elephant grass silage, however, mesquite starch is more efficient.

Objetivou-se avaliar a degradabilidade ruminal da matéria seca, da proteína bruta e da fibra em detergente neutro da silagem de capim elefante com diferentes componentes de algaroba. Utilizou-se o delineamento inteiramente casualizado, com 4 tratamentos e 12 repetições, sendo as silagens: 100% de capim elefante; 70% de capim elefante + 30% de farelo de algaroba integral; 70% de capim elefante + 30% de vagem de algaroba; 70% de capim elefante + 30% de amido de algaroba. O capim elefante foi cortado com 100 dias após a rebrota, triturado e ensilado com os componentes de algaroba. Após 60 dias, os silos foram abertos e as amostras foram coletadas para a pré-secagem, moagem e posteriores análises e incubação. Amostras de cada silagem foram incubadas no rúmen de três novilhos Gir X Holandês, por períodos de 0; 3; 6; 12; 24; 48; 72; 96; 120 e 144 horas. Para o conjunto de parâmetros de degradação estudado, observou-se que os diferentes componentes de algaroba na silagem de capim elefante aumentaram a degradabilidade potencial e efetiva, a degradabilidade ruminal da matéria seca e proteína bruta. A maior degradabilidade foi observada na silagem com amido de algaroba. A algaroba e seus componentes constituem uma alternativa viável a ser adicionada na silagem de capim elefante, contudo, o amido de algaroba é mais eficiente.

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The objective was to evaluate the degradability of dry matter, crude protein and neutral detergent fiber of elephant grass silage with different components of mesquite. It was used a completely randomized design with twelve treatments and four replications, and silages: 100% elephant grass, elephant grass 70% + 30% bran full mesquite, 70% of elephant grass + 30% pods mesquite, 70% of elephant grass + 30% starch mesquite. The elephant grass was cut to 100 days after sprouting, and ensiled with crushed mesquite components. After 60 days, the silos were opened and samples were collected for pre-drying, grinding and subsequent analysis and incubation. Samples of each silage were incubated in the rumen of three steers Holstein X Gir for periods of 0, 3, 6, 12, 24, 48, 72, 96, 120 and 144 hours. For the set of degradation parameters studied, it was observed that the different components of mesquite in the elephant grass silage increased the potential degradability and effectively increases the degradability of dry matter and crude protein. The higher degradability was observed in mesquite starch silage. The mesquite and its components constitute a viable alternative to be added in the elephant grass silage, however, mesquite starch is more efficient.

Objetivou-se avaliar a degradabilidade ruminal da matéria seca, da proteína bruta e da fibra em detergente neutro da silagem de capim elefante com diferentes componentes de algaroba. Utilizou-se o delineamento inteiramente casualizado, com 4 tratamentos e 12 repetições, sendo as silagens: 100% de capim elefante; 70% de capim elefante + 30% de farelo de algaroba integral; 70% de capim elefante + 30% de vagem de algaroba; 70% de capim elefante + 30% de amido de algaroba. O capim elefante foi cortado com 100 dias após a rebrota, triturado e ensilado com os componentes de algaroba. Após 60 dias, os silos foram abertos e as amostras foram coletadas para a pré-secagem, moagem e posteriores análises e incubação. Amostras de cada silagem foram incubadas no rúmen de três novilhos Gir X Holandês, por períodos de 0; 3; 6; 12; 24; 48; 72; 96; 120 e 144 horas. Para o conjunto de parâmetros de degradação estudado, observou-se que os diferentes componentes de algaroba na silagem de capim elefante aumentaram a degradabilidade potencial e efetiva, a degradabilidade ruminal da matéria seca e proteína bruta. A maior degradabilidade foi observada na silagem com amido de algaroba. A algaroba e seus componentes constituem uma alternativa viável a ser adicionada na silagem de capim elefante, contudo, o amido de algaroba é mais eficiente.

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The objective was to evaluate the degradability of dry matter, crude protein and neutral detergent fiber of elephant grass silage with different components of mesquite. It was used a completely randomized design with twelve treatments and four replications, and silages: 100% elephant grass, elephant grass 70% + 30% bran full mesquite, 70% of elephant grass + 30% pods mesquite, 70% of elephant grass + 30% starch mesquite. The elephant grass was cut to 100 days after sprouting, and ensiled with crushed mesquite components. After 60 days, the silos were opened and samples were collected for pre-drying, grinding and subsequent analysis and incubation. Samples of each silage were incubated in the rumen of three steers Holstein X Gir for periods of 0, 3, 6, 12, 24, 48, 72, 96, 120 and 144 hours. For the set of degradation parameters studied, it was observed that the different components of mesquite in the elephant grass silage increased the potential degradability and effectively increases the degradability of dry matter and crude protein. The higher degradability was observed in mesquite starch silage. The mesquite and its components constitute a viable alternative to be added in the elephant grass silage, however, mesquite starch is more efficient.

Objetivou-se avaliar a degradabilidade ruminal da matéria seca, da proteína bruta e da fibra em detergente neutro da silagem de capim elefante com diferentes componentes de algaroba. Utilizou-se o delineamento inteiramente casualizado, com 4 tratamentos e 12 repetições, sendo as silagens: 100% de capim elefante; 70% de capim elefante + 30% de farelo de algaroba integral; 70% de capim elefante + 30% de vagem de algaroba; 70% de capim elefante + 30% de amido de algaroba. O capim elefante foi cortado com 100 dias após a rebrota, triturado e ensilado com os componentes de algaroba. Após 60 dias, os silos foram abertos e as amostras foram coletadas para a pré-secagem, moagem e posteriores análises e incubação. Amostras de cada silagem foram incubadas no rúmen de três novilhos Gir X Holandês, por períodos de 0; 3; 6; 12; 24; 48; 72; 96; 120 e 144 horas. Para o conjunto de parâmetros de degradação estudado, observou-se que os diferentes componentes de algaroba na silagem de capim elefante aumentaram a degradabilidade potencial e efetiva, a degradabilidade ruminal da matéria seca e proteína bruta. A maior degradabilidade foi observada na silagem com amido de algaroba. A algaroba e seus componentes constituem uma alternativa viável a ser adicionada na silagem de capim elefante, contudo, o amido de algaroba é mais eficiente.

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The consumption, digestibility, and performance was evaluated of lambs fed silage elephant grass containing different inclusion levels of passion fruit peel dried (0, 10, 20 and 30%) in natural matter of elephant grass, in a randomized completely randomized design with four replications. The elephant grass was cut at 60 days old, chopped and ensiled in barrels along with the proportions of dried passion fruit peel as each treatment. After 30 days, the silos were opened, beginning the experiment. It was observed that the inclusion of the residual affect intake and digestibility of certain nutrients. Effect was observed for average daily weight gain and total gain of the lambs, and for every 1% of passion fruit peel added dried rose 2.42% for Average daily gain. The feed showed decreasing linear effect (8.9, 9.2, 8.6 and 7.2), respectively, between treatments, the report concludes that the passion fruit peel dried can be used in up to 30% inclusion elephant grass.

Avaliou-se o consumo, a digestibilidade, e o desempenho de cordeiros alimentados com silagem de capim elefante que continha diferentes níveis de inclusão de casca de maracujá desidratada (0; 10; 20 e 30%) na matéria natural do capim elefante, em delineamento inteiramente casualizado. O capim elefante foi cortado com 60 dias de idade, picado e ensilado em tonéis juntamente com as proporções de casca de maracujá desidratada, conforme cada tratamento. Após 30 dias os silos foram abertos, quando se deu início ao experimento. Observou-se que a inclusão do resíduo influenciou o consumo e a digestibilidade de alguns nutrientes. Houve efeito para o ganho de peso médio diário e ganho total dos cordeiros, com elevação de 2,42% do ganho médio diário para cada 1% de casca de maracujá desidratada adicionada. A conversão alimentar apresentou efeito linear decrescente (8,9; 9,2; 8,6 e 7,2), respectivamente, entre os tratamentos, o que permitiu concluir que a casca de maracujá desidratada pode ser utilizada em até 30% de inclusão ao capim elefante.

RESUMO

The consumption, digestibility, and performance was evaluated of lambs fed silage elephant grass containing different inclusion levels of passion fruit peel dried (0, 10, 20 and 30%) in natural matter of elephant grass, in a randomized completely randomized design with four replications. The elephant grass was cut at 60 days old, chopped and ensiled in barrels along with the proportions of dried passion fruit peel as each treatment. After 30 days, the silos were opened, beginning the experiment. It was observed that the inclusion of the residual affect intake and digestibility of certain nutrients. Effect was observed for average daily weight gain and total gain of the lambs, and for every 1% of passion fruit peel added dried rose 2.42% for Average daily gain. The feed showed decreasing linear effect (8.9, 9.2, 8.6 and 7.2), respectively, between treatments, the report concludes that the passion fruit peel dried can be used in up to 30% inclusion elephant grass.

Avaliou-se o consumo, a digestibilidade, e o desempenho de cordeiros alimentados com silagem de capim elefante que continha diferentes níveis de inclusão de casca de maracujá desidratada (0; 10; 20 e 30%) na matéria natural do capim elefante, em delineamento inteiramente casualizado. O capim elefante foi cortado com 60 dias de idade, picado e ensilado em tonéis juntamente com as proporções de casca de maracujá desidratada, conforme cada tratamento. Após 30 dias os silos foram abertos, quando se deu início ao experimento. Observou-se que a inclusão do resíduo influenciou o consumo e a digestibilidade de alguns nutrientes. Houve efeito para o ganho de peso médio diário e ganho total dos cordeiros, com elevação de 2,42% do ganho médio diário para cada 1% de casca de maracujá desidratada adicionada. A conversão alimentar apresentou efeito linear decrescente (8,9; 9,2; 8,6 e 7,2), respectivamente, entre os tratamentos, o que permitiu concluir que a casca de maracujá desidratada pode ser utilizada em até 30% de inclusão ao capim elefante.

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Twenty children with corpus callosum agenesis or hypoplasia were evaluated under a standardized investigation protocol. Psychomotor retardation, seizures, and craniofacial anomalies were the most prominent findings. There were three cases of chromosomal anomalies, all of them representing trisomy of chromosome 8.

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