Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors may play a role. To date, 37 patients with GOSHS have been reported. Here, we document nine new patients with variants in KIFBP: seven with nonsense variants and two with missense variants. To our knowledge, this is the first time that missense variants have been reported in GOSHS. We functionally investigated the effect of the variants identified, in an attempt to find a genotype-phenotype correlation. We also determined whether common Hirschsprung disease (HSCR)-associated single nucleotide polymorphisms (SNPs), could explain the presence of HSCR in GOSHS. Our results showed that the missense variants led to reduced expression of KIFBP, while the truncating variants resulted in lack of protein. However, no correlation was found between the severity of GOSHS and the location of the variants. We were also unable to find a correlation between common HSCR-associated SNPs, and HSCR development in GOSHS. In conclusion, we show that reduced, as well as lack of KIFBP expression can lead to GOSHS, and our results suggest that a threshold expression of KIFBP may modulate phenotypic variability of the disease

A alimentação do prematuro por meio do copo Cup-feeding of premature newborn children

OBJETIVO: Quantificar a proporção de leite perdido na oferta da dieta com copo; o tempo de oferta e analisar se há relação do desperdício e o tempo gasto na ingesta com as variáveis: sexo, dias de vida, idade gestacional corrigida, tempo de sonda orogástrica, tempo de alimentação por via oral, estado de vigília e sinais de estresse. MÉTODOS: Participaram 20 recém-nascidos prematuros, 11 do sexo feminino e nove do masculino. A média de idade gestacional corrigida foi de 36 semanas e o peso na avaliação de 1668 gramas. Os bebês eram alimentados via oral por, no mínimo, dois dias. Seus prontuários foram analisados quanto ao sexo, idade gestacional, peso atual, dias de vida, tempo de alimentação por via oral e tempo de uso de sonda orogástrica para relacionar aos dados da oferta da dieta. Para a administração do leite, o recém-nascido foi posicionado segundo as normas da Organização Mundial de Saúde. O alimento foi ofertado utilizando-se copo descartável de 50 mililitros, uma gaze foi colocada como anteparo e o tempo da oferta mensurado. Posteriormente, a gaze foi pesada. RESULTADOS: Houve diferença estatisticamente significante entre os volumes aceito (81,5%) e desperdiçado (22,8%) de leite, com maior aceite para o sexo feminino e para os bebês que não apresentaram sinais de estresse. O tempo médio de ingestão da dieta foi de 416 segundos. CONCLUSÕES: Os recém-nascidos pré-termo do sexo feminino aceitaram maior volume de leite, e quanto menor a exposição aos fatores estressantes, maior o aceite da dieta. O tempo médio gasto para ingestão da dieta não foi influenciado pelas variáveis analisadas.<br>PURPOSE: To quantify the milk loss ratio and the length of cup-feeding, and to analyze whether the waste and time expended in ingestion are related to the variables: sex, days of life, corrected gestational age, period of time using orogastric tube, period of time receiving oral feeding, alertness, and signs of stress. METHODS: Twenty premature newborn children, 11 female and nine male, participated on this study. The mean corrected gestational age was 36 weeks, and mean weight during evaluation was 1668 grams. The babies were orally fed for, at least, two days. Their medical files were analyzed regarding sex, gestational age, current weight, days of life, period of time receiving oral feeding, and period of time using orogastric tube, in order to relate these data with cup-feeding offer. For cup-feeding, the newborns were positioned according to World Health Organization standards. The milk administration was carried out using disposable 50-milliliters cups; gauze was placed as a shield, and the length of offer was measured. Later, the gauze was weighed. RESULTS: There was a significant statistical difference between the volumes of accepted (81.5%) and wasted (22.8%) milk, with more acceptance for female newborns and for the babies who did not present signs of stress. The mean length of cup-feeding was 416 seconds. CONCLUSION: Female preterm newborns accepted grater milk volume, and the lesser exposition to stressing factors the bigger the acceptance of milk. The mean length of ingestion was not influenced by the variables analyzed

Histopathology and the lethal effect of Cry proteins and strains of Bacillus thuringiensis Berliner in Spodoptera frugiperda J.E. Smith Caterpillars (Lepidoptera, Noctuidae)

Among the phytophagous insects which attack crops, the fall armyworm, Spodoptera frugiperda (J.E. Smith, 1797) (Lepidoptera, Noctuidae) is particularly harmful in the initial growth phase of rice plants. As a potential means of controlling this pest, and considering that the entomopathogen Bacillus thuringiensis Berliner demonstrates toxicity due to synthesis of the Cry protein, the present study was undertaken to evaluate this toxic effect of B. thuringiensis thuringiensis 407 (pH 408) and B. thuringiensis kurstaki HD-73 on S. frugiperda. The following method was used. Both bacterial strains were evaluated in vitro in 1st instar S. frugiperda caterpillars, by means of histopathological assays. The Cry1Ab and Cry1Ac proteins, codified by the respective strains of B. thuringiensis, were evaluated in vivo by bioassays of 1st instar S. frugiperda caterpillars in order to determine the Mean Lethal Concentration (LC50). The results of the histopathological analysis of the midget of S. frugiperda caterpillars demonstrate that treatment with the B. thuringiensis thuringiensis strain was more efficient, because the degradations of the microvilosities started 9 hours after treatment application (HAT), while in the B. thuringiensis kurstaki the same effect was noticed only after 12 HAT. Toxicity data of the Cry1Ab and Cry1Ac proteins presented for the target-species LC50 levels of 9.29 and 1.79 μg.cm-2 respectively. The strains and proteins synthesised by B. thuringiensis thuringiensis and B. thuringiensis kurstaki are effective in controlling S. frugiperda, and may be used to produce new biopesticides or the genes may be utilised in the genetic transformation of Oryza sativa L

A systematic review of the physical and chemical characteristics of pollutants from biomass burning and combustion of fossil fuels and health effects in Brazil

The aim of this study was to carry out a review of scientific literature published in Brazil between 2000 and 2009 on the characteristics of air pollutants from different emission sources, especially particulate matter (PM) and its effects on respiratory health. Using electronic databases, a systematic literature review was performed of all research related to air pollutant emissions. Publications were analyzed to identify the physical and chemical characteristics of pollutants from different emission sources and their related effects on the respiratory system. The PM2.5 is composed predominantly of organic compounds with 20% of inorganic elements. Higher concentrations of metals were detected in metropolitan areas than in biomass burning regions. The relative risk of hospital admissions due to respiratory diseases in children was higher than in the elderly population. The results of studies of health effects of air pollution are specific to the region where the emissions occurred and should not be used to depict the situation in other areas with different emission sources