Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

Fetal urinary insulin-like growth factor I and binding protein 3 in bilateral obstructive uropathies

Fetal urinary concentrations of insulin-like growth factor I (UIGF-I) and binding protein 3 (UIGFBP-3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr-pCreat); and group 3, patients (n = 16) with 1 yr-pCreat ≤ μmol/1. The results show a significant increase in UIGF-I and UIGFBP-3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF-I and UIGFBP-3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr-pCreat (>50 μmol/1). Fetal urinary IGF-I and IGFBP-3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment.     

Application of CGP-cross route process for microstructure refinement and mechanical properties improvement in steel sheets

A modified method of severe plastic deformation (SPD) entitled constrained groove pressing-cross route (CGP-CR) was introduced for imposing a high magnitude of equivalent strain of about 2.32 per pass on the sheet form samples. The major benefit of this improved route compared to previous common route was the more homogeneity of strain in the rolling (RD) and transverse (TD) directions of sheets. In this study, low carbon steel samples were used for examination of evolutions in microstructure and mechanical properties during SPD via CGP-CR process. Mechanical properties improvement were measured by tensile and macro hardness tests. The results indicate that CGP-CR process can effectively improve tensile strength; and also, yield stress and hardness of as-received low carbon steel samples were improved up to about 100% after two deformation passes. Also, high magnitude of inhomogeneity can be observed in hardness distribution through first pass of the process which diminishes in the subsequent passes. Microstructural evolutions during process were monitored by optical microscopy observations and X-ray diffraction analysis. The results demonstrate that initial ferritic microstructure with grain size of about 30 μm was refined to a 225 nm cell structure after two passes of CGP-CR process.     

Management strategies to mitigate the impacts of climate change on sea turtle’s terrestrial reproductive phase

Climate change poses a serious threat to sea turtles (Cheloniidae) as their terrestrial reproductive phase is only successful within a limited range of environmental and physical conditions. These conditions are likely to become less optimal as climate change progresses. To date, management and conservation of sea turtles has focused almost entirely on non-climatic stressors, due at least in part to practitioners not knowing what strategies to take and the feasibility and risks of potential strategies. To aid the management of sea turtles in a changing environment, we identified management strategies via a focus workshop and surveys to mitigate the impacts of climate change to the terrestrial reproductive phase of sea turtles. The effectiveness, ecological risks and potential social and logistical constraints associated with implementing each of the identified management strategies is discussed. Twenty management strategies were identified; strategies varied from habitat protection to more active and direct manipulation of nests and the nesting environment. Based on our results, we suggest a three-pronged approach to sea turtle conservation in light of climate change, where managers and researchers should: 1) enhance sea turtle resilience to climate change by mitigating other threats; 2) prioritise implementing the ‘no regret’ and ‘reversible’ management strategies identified here; and 3) fill the knowledge gaps identified to aid the trial and implementation of the potential strategies identified here. By combining these three approaches our collective toolkit of sea turtle management strategies will expand, giving us an array of viable approaches to implement as climate change impacts become more extreme.     

A graphical representation of carbon footprint reduction for chemical processes

Climate change has recently become a major focus for industry and government agencies. Some recent works have been reported on the use of pinch analysis techniques for carbon-constrained energy planning problems. This paper discusses a new application of graphical technique based on pinch analysis for company-level visualization and analysis of carbon footprint improvement. The technique is based on the decomposition of total carbon footprint into material- and energy-based components, or alternatively, into internal and external components. The decomposition facilitates the evaluation and screening of process improvement alternatives. Two industrial case studies on the production of phytochemical extracts and bulk chemicals are used to illustrate the new extension.