36 research outputs found
Unrecognised diaphragmatic hernia in a refugee child: An incidental diagnosis
No full textA 4-year-old boy from Syria was evaluated at the emergency department because of an upper airway viral illness. His physical examination showed a significant intensity reduction of all heart sounds in the absence of any other pathological signs. As the child was affected with Down's syndrome and had suffered thoracic and abdominal trauma because of bombardments, a diaphragmatic hernia was immediately suspected and was confirmed through a simple chest X-ray. A careful clinical examination is crucial in refugee children and adolescents, as several medical and surgical disorders could have escaped previously
Quantification of genetic relationships among A genomes of wheats
No full textThe genetic relationships of A genomes of Triticum urartu (Au) and Triticum monococcum (Am) in polyploid wheats are explored and quantified by AFLP fingerprinting. Forty-one accessions of A-genome diploid wheats, 3 of AG-genome wheats, 19 of AB-genome wheats, 15 of ABD-genome wheats, and 1 of the D-genome donor Ae. tauschii have been analysed. Based on 7 AFLP primer combinations, 423 bands were identified as potentially A genome specific. The bands were reduced to 239 by eliminating those present in autoradiograms of Ae. tauschii, bands interpreted as common to all wheat genomes. Neighbour-joining analysis separates T. urartu from T. monococcum. Triticum urartu has the closest relationship to polyploid wheats. Triticum turgidum subsp. dicoccum and T. turgidum subsp. durum lines are included in tightly linked clusters. The hexaploid spelts occupy positions in the phylogenetic tree intermediate between bread wheats and T. turgidum. The AG-genome accessions cluster in a position quite distant from both diploid and other polyploid wheats. The estimates of similarity between A genomes of diploid and polyploid wheats indicate that, compared with Am, Au has around 20% higher similarity to the genomes of polyploid wheats. Triticum timopheevii AG genome is molecularly equidistant from those of Au and Am wheats
Effect of durum wheat genotype and environment on the heat-damage of dried pasta
No full textThe influence of the environment and genotype on the concentration of some semolina components involved in the Maillard Reaction (MR) during high temperature (HT) drying of pasta was determined in six varieties of durum wheat grown at two contrasting locations for two consecutive years. The extent of MR in HT dried pasta as determined by furosine level was found to be significantly related (r = 0.68; p < 0.05) with the amount of reducing sugars. Moreover, the susceptibility to MR appeared to be strictly dependent on α-amylase activity in both kernel (r = 0.70; p < 0.01) and semolina (r = 0.62; p < 0.01). The extent of MR showed a high heritability value, suggesting that genetic manipulation can be used to reduce the susceptibility to MR and preserve the nutritional value of wheat in HT dried pasta
Assessment of bimanual proprioception during an orientation matching task with a physically coupled object
No full textAssessing proprioception is important for understanding and treating sensorimotor impairments. Many daily tasks require bimanual manipulation of objects, but state of the art methods for the assessment of proprioception are far away from bimanual activities, and instead evaluate sensorimotor integrity in oversimplified and often unimanual goal-directed tasks. Here, we developed a new device and method to assess proprioception and force production by simulating a realistic bimanual behavior. Twelve healthy participants held a physically coupled object - a sensorized box - and matched target orientations about the three principal axes without and with added weights. Our preliminary findings indicate that bimanual proprioception during orientation matching depends on the axis of rotation. For example, in rotations about the lateral axis of the body, underestimation and overestimation of the target angle depends on its orientation in a body-centered reference frame: participants tended to underestimate targets that required rotation far away from the body and overestimated angles that required rotation towards the body. We also found that for the same rotation axis, the larger were the rotations, the higher was the force applied. Moreover, we also found that fatigue causes undershoot in orientation matching. In the future, this tool could be adopted for assessment and treatment of sensorimotor deficits in bimanual functional tasks
Preparation of wheat resistant starch : treatment of gels and DSC characterization
No full textA suitable thermal treatment of gels of various starch varieties was assessed to achieve the formation of resistant starch (i.e. amylose crystals). On the basis of DSC data, the yield of amylose crystals and their thermal stability did not seem correlated with the amylose content of the starch. This last parameter may not therefore be referred to as the only factor that defines a resistant starch promising starch variety
Red blood cell transfusions in preterm newborns and neurodevelopmental outcomes at 2 and 5 years of age
No full textBackground - Red blood cell (RBC) transfusion is often considered a life-saving measure in preterm neonates. However, it has been associated with detrimental effects on short-term morbidities and, recently, on brain development. The aim of the present study was to evaluate the association between RBC and long-term neurodevelopmental outcome in a cohort of preterm infants.
Materials and methods - This retrospective cohort study was carried out in the period 2007-2013. Preterm infants with a gestational age (GA) ≤32 weeks and birthweight (BW) <1,500 g were included. Infants underwent Griffiths assessment at 24±6 months corrected age (CA) and at 5±1 years of age. We used a multivariate regression model to assess the association of RBC transfusions and long-term neurodevelopment after controlling for GA, being small for GA, major neonatal morbidities, and socio-economic status. We also evaluated the impact of early RBC administration (within the first 28 days of life) compared to those performed after the first month of life.
Results - We enrolled 644 preterm infants, among whom 54.3% were transfused during their stay in the neonatal intensive care unit (NICU). In infants with a longitudinal follow-up evaluation (n=360), each RBC transfusion was independently associated with a reduction in the Griffiths General Quotient (GQ) by −0.96 (p=0.002) at 24 months CA. Early RBC administration had the biggest impact, especially in children without brain lesions, where the reduction in Griffiths GQ for each additional transfusion was −2.12 (p=0.001) at 24 months CA and −1.31 (p=0.006) at 5 years of age, respectively.
Discussion - In preterm infants, RBC transfusions are associated with long-term neurodevelopmental outcome, with a cumulative effect. Early RBC administration is associated with a greater reduction in Griffiths scores. The impact of RBC transfusion on neurodevelopment is greater at 24 months CA, but persists, although to a lesser degree, at 5 years of age
Lung disease recalling paraseptal emphysema in a patient with Goltz syndrome
No full textBackground: Goltz syndrome is a rare, genetic disorder mainly occurring in female patients. Case presentation: The case presented here is, to the best of our knowledge, the first description of the occurrence of lung parenchymal alterations in a young female patient affected by Goltz syndrome. Although pulmonary involvement is not known in patients affected by X-linked Goltz syndrome, the case here described is related to the even rarer autosomal form of the disease, as in this case. It is thus conceivable that in such different genetic setting the involvement of lung parenchyma may be unveiled through atypical emphysematous lesions. Conclusion: This report suggested - for the first time time - a rationale for a lung function and imaging screening in patients affected by Goltz syndrome at least in its autosomal form
