To perform a prospective genetic investigation using whole exome sequencing of a group of patients with syndromic short stature born small for gestational age of unknown cause.
For whole exome ...sequencing analysis, we selected 44 children born small for gestational age with persistent short stature, and additional features, such as dysmorphic face, major malformation, developmental delay, and/or intellectual disability. Seven patients had negative candidate gene testing based on clinical suspicion and 37 patients had syndromic conditions of unknown etiology.
Of the 44 patients, 15 (34%) had pathogenic/likely pathogenic variants in genes already associated with growth disturbance: COL2A1 (n = 2), SRCAP (n = 2), AFF4, ACTG1, ANKRD11, BCL11B, BRCA1, CDKN1C, GINS1, INPP5K, KIF11, KMT2A, and POC1A (n = 1 each). Most of the genes found to be deleterious participate in fundamental cellular processes, such as cell replication and DNA repair.
The rarity and heterogeneity of syndromic short stature make the clinical diagnosis difficult. Whole exome sequencing allows the diagnosis of previously undiagnosed patients with syndromic short stature.
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•The tropical montane cloud forests (TMCF) in Ecuador are endangered ecosystems that may be affected by climate change.•Community – level ecological niche models are useful to ...reconstruct TMCF boundaries to guide conservation strategies.•By year 2050, 42 -54 % TMCF area reduction and 207 – 429 m upwards elevational shift was predicted by our models.•TMCF model corresponds to 68% of the Ecuadorian ecosystem map, with transitional zones on adjacent montane ecosystems.•TMCF under protected areas might increase in future scenarios, as climatic suitability areas will move to higher elevations.
The Tropical Montane Cloud Forests (TMCF) of South America are ecosystems facing rapid changes due to global warming. Herein, we used species climatic niche models to reconstruct the climatic boundaries of TMCF and to predict range shifts in climate change scenarios. Thirty-two species from three taxonomic groups (plants, birds, and amphibians) were modelled using community-level niche models under current and future climatic scenarios, as determined by two Global Climate Models (GCMs) for the year 2050. The community-level reconstructions were used to detect the overlap of TMCF with surrounding ecosystems and with current protected areas (PA). Approximate 42–54% area reduction and 207–429 m upward elevational shift was predicted under climate scenarios. Accordingly, severe environmental contractions (loss of suitability area) due to climate change were detected by our models. TMCF area within PA may increase 17–38% by 2050. We identified transition zones rather than clear limits of vegetational boundaries of TMCF with adjacent ecosystems, which suggested that both TMCF and transitional zones will be impacted, to what conservation strategies targeting TMCF and adjacent ecosystems should be prioritized.
Most infants born with very low birth weight (VLBW, birth weight < 1500 g) show spontaneous catch‐up growth in postnatal life. The reasons for the absence of catch‐up growth are not entirely ...understood. We performed a comprehensive investigation of 52 children born with VLBW. Ten children had a history of an external cause that explained the VLBW and five refused genetic evaluation. Twenty‐three cases were initially evaluated by a candidate gene approach. Patients with a negative result in the candidate gene approach (n = 14) or without clinical suspicion (n = 14) were assessed by chromosome microarray analysis (CMA) and/or whole‐exome sequencing (WES). A genetic condition was identified in 19 of 37 (51.4%) patients without an external cause, nine by candidate gene approach, and 10 by a genomic approach (CMA/WES). Silver–Russell syndrome was the most frequent diagnosis (n = 5) and the remaining patients were diagnosed with other rare monogenic conditions. Almost all patients with a positive genetic diagnosis exhibited syndromic features (94.4%). However, microcephaly, neurodevelopmental disorders, major malformation, or facial dysmorphism were also frequently observed in children with an external cause. In conclusion, a significant proportion of children born with VLBW with persistent short stature have a genetic/epigenetic condition.
The Image is a scanner developed as a grain classifier for quality control at the rice industry based on Brazilian official norms. It orders the dehulled grains ensuring that each grain would pass ...individually, in free fall, while the grain is analysed from different sides, covering its whole surface. It ensures a precise three-dimensional measurement of grain size, chalkiness, defects of the grain, milling quality, given out a total of 39 traits/classes/defects/values, which are sent to a excel Microsoft spreadsheet. This is managed through a digital platform which analysis routine and layout were developed and designed by Selgron and Epagri to fit the needs of research. The scanner and its software reach outputs that enhance rice breeding efficiency for grain quality, performing it faster, precisely and with a high-throughput phenotyping than ever before, especially interesting in very early breeding generations.
To evaluate the presence of multiple genetic diagnoses in syndromic growth disorders.
We carried out a cross-sectional study to evaluate 115 patients with syndromic tall (n = 24) or short stature ...(n = 91) of unknown cause from a tertiary referral center for growth disorders. Exome sequencing was performed to assess germline single nucleotide, InDel, and copy number variants. All variants were classified according to ACMG/AMP guidelines. The main outcome measured was the frequency of multiple genetic diagnoses in a cohort of children with syndromic growth disorders.
The total diagnostic yield of the cohort was 54.8% (63/115). Six patients had multiple genetic diagnoses (tall stature group = 2; short stature group = 4). The proportion of multiple diagnoses within total cases was 5.2% (6/115), and within solved cases was 9.5% (6/63). No characteristics were significantly more frequent when compared with patients with single or multiple genetic findings. Among patients with multiple diagnoses, 3 had syndromes with overlapping clinical features, and the others had syndromes with distinct phenotypes.
Recognition of multiple genetic diagnoses as a possibility in complex cases of syndromic growth disorders opens a new perspective on treatment and genetic counseling for affected patients, defying the medical common sense of trying to fit all findings into one diagnosis.
SCSBRS126 Dueto is a late-maturing high yield performing cultivar released by Epagri/Embrapa/Udesc. It has high tillering capacity, but poor resistance to lodging, medium resistance to blast, with ...long, slender grains and good sensory/cooking traits, and it has lower sterility under cold stress at microsporogenesis/anthesis and under heat at anthesis.
SCS122 Miura - New Rice Cultivar Marschalek, Rubens; Noldin, Jose Alberto; Wickert, Ester ...
Crop breeding and applied biotechnology,
09/2017, Letnik:
17, Številka:
3
Journal Article
Recenzirano
Odprti dostop
The rice cultivar SCS122 Miura has modern architecture, lodging resistance, late maturity cycle, moderate resistance to blast, high yield potential, long grains and adequate cooking quality. ...Industrial tests have demonstrated that the grains are suitable for parboiled rice. SCS122 Miura is recommended for all rice-producer regions of the state of Santa Catarina, Brazil.
O direito do trabalho surgiu de uma necessidade imperiosa de regulação das relações de subordinação dos vendedores de mão de obra e os excessos decorrentes da desigualdade de forças entre os ...tomadores de referidos serviços, notadamente no que concernia à jornada, condições e salubridade, descanso e direitos essenciais. A partir desse cenário e de toda a evolução do quadro protecionista desenvolvido, as relações e necessidades laborais evoluíram, novas atividades e formas de prestação de serviços surgiram, além da concorrência que ampliou seu espectro e atingiu a globalização. Urge a necessidade de repensar a legislação trabalhista e readequá-la à realidade cogente, flexibilizando determinadas máximas e mitigando outras, restabelecendo o necessário equilíbrio e a oferta de empregos. Esse é o contexto justificador da reforma trabalhista, tendo o presente artigo o escopo de, ainda que de forma sucinta, verificar o atingimento desse clamor socioeconômico e possíveis lacunas ainda existentes ou não atendidas.
Abstract SCS121 CL is a second-generation Clearfield(r) rice cultivar with resistance to herbicides of the imidazolinone group. The cultivar has modern plant type, lodging resistance, late maturity ...cycle, high yield potential, long grains and good cooking quality. The cultivar is recommended to all rice-producer regions of Santa Catarina, Brazil.
Background: Rice lines displaying resistance to quizalofop-p-ethyl (quizalofop), an acetyl coenzyme A carboxylase (ACCase)-inhibiting herbicide, were developed to facilitate control of ...imidazolinone-resistant weedy rice (red rice), as well as other susceptible grasses. Objective: To assess the sensitivity of weedy rice accessions from Brazil to quizalofop. Methods: Two bioassays were conducted on the greenhouse from March to June 2016, in a completely random design with a two-factor factorial combination of treatments and four replications. The factor A was weedy rice accession and factor B was quizalofop rates (0, 25 and 50 g a.i. ha-1). It was assessed a total of 84 genotypes in the two bioassays, composed of 78 weedy rice accessions, 4 rice cultivars, and 2 lines resistant to aryloxyphenoxypropionate (AOPP) herbicides. Quizalofop was applied the 2-leaf stage. Weedy rice control was evaluated at 28 and 22 days after treatment (DAT), respectively for bioassay I and II, using a scale of 0% (no control) to 100% (dead). Results: All weedy rice accessions were susceptible to quizalofop, being controlled 100% with 50 g a.i. ha-1. Rice lines SC 964 and SC 965, resistant to AOPP herbicides, were not injured by quizalofop. Conclusions: quizalofop is an effective tool for weedy rice control in ACCase-resistant rice.
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