AbstractIn this paper, a novel field-oriented methodology to setup real-time control (RTC) for leakage reduction by pressure control valves in water distribution networks is presented. The paper ...introduces modalities to address the selection of proper RTC system architecture based on the network connectivity at the valve sites. Criteria for target node identification and RTC strategy selection in case of single-control (one valve–one target node) and multiple-control (multiple valve–one target node) architectures are developed. The impact on the control performance of controller calibration and communication protocol selection procedures, and of background noise in pressure signals is also explored. Then, developed criteria and procedures are applied to a Norwegian water distribution network in which a future field-pilot RTC system will be installed. Benefits in terms of pressure control effectiveness and water leakage reduction are evaluated by simulation under different control scenarios as a basic step to assess installation potentiality.
The objective of the paper is to evaluate the potential of tank-based rainwater harvesting systems as source control methods to mitigate runoff flow peaks in urban areas. Water balance simulations of ...the rainwater tanks at the resolution time scale of 1minute were carried out for this purpose using both high-resolution rainfall series and toilet water demand data from a previous experimental campaign, which involved six experimental households in southern Italy. Simulations show that significant reduction of the flow peak may be obtained with rainwater tanks depending on the tank size and on the household water demand.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Abstract We report on a 7-year-old girl with severe mental retardation (MR), autism, micro-brachycephaly, generalized muscle hypotonia with distal hypotrophy of lower limbs, scoliosis and facial ...dysmorphisms. Array-CGH analysis identified a 1.1 Mb deletion of chromosome Xq22.1. Further analysis demonstrated that the deletion was inherited from her mother who showed mild MR, short stature, brachycephaly, epilepsy and a Borderline Personality Disorder. Microsatellite segregation analysis revealed that the rearrangement arose de novo in the mother on the paternal X chromosome. The deleted Xq22.1 region contains part of the NXF gene cluster which is involved in mRNA nuclear export and metabolism. Among them, the NXF5 gene has already been linked to mental retardation whereas NXF2 protein has been recently found to be partner of FMRP in regulating Nxf1 mRNA stability in neuronal cells. The dosage imbalance of NXF5 and NXF2 genes may explain the severe phenotype in our patient.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Recurrent 15q13.3 microdeletions were recently identified with identical proximal (BP4) and distal (BP5) breakpoints and associated with mild to moderate mental retardation and epilepsy.
To assess ...further the clinical implications of this novel 15q13.3 microdeletion syndrome, 18 new probands with a deletion were molecularly and clinically characterised. In addition, we evaluated the characteristics of a family with a more proximal deletion between BP3 and BP4. Finally, four patients with a duplication in the BP3-BP4-BP5 region were included in this study to ascertain the clinical significance of duplications in this region.
The 15q13.3 microdeletion in our series was associated with a highly variable intra- and inter-familial phenotype. At least 11 of the 18 deletions identified were inherited. Moreover, 7 of 10 siblings from four different families also had this deletion: one had a mild developmental delay, four had only learning problems during childhood, but functioned well in daily life as adults, whereas the other two had no learning problems at all. In contrast to previous findings, seizures were not a common feature in our series (only 2 of 17 living probands). Three patients with deletions had cardiac defects and deletion of the KLF13 gene, located in the critical region, may contribute to these abnormalities. The limited data from the single family with the more proximal BP3-BP4 deletion suggest this deletion may have little clinical significance. Patients with duplications of the BP3-BP4-BP5 region did not share a recognisable phenotype, but psychiatric disease was noted in 2 of 4 patients.
Overall, our findings broaden the phenotypic spectrum associated with 15q13.3 deletions and suggest that, in some individuals, deletion of 15q13.3 is not sufficient to cause disease. The existence of microdeletion syndromes, associated with an unpredictable and variable phenotypic outcome, will pose the clinician with diagnostic difficulties and challenge the commonly used paradigm in the diagnostic setting that aberrations inherited from a phenotypically normal parent are usually without clinical consequences.
We have evaluated serum leptin concentrations in two forms of genetic obesity. The subjects examined were eight women with Down syndrome and eight women with Prader-Willi syndrome. All patients were ...in the reproductive age range and were obese (body mass index ≥ 21 kg/m2). Plasma leptin values ,analyzed as a function of body mass index showed a statistically significant correlation in both Prader-Willi (r = 0.985; p < 0.001) and Down syndrome patients (r = 0.943; p < 0.001). Obese Down syndrome women exhibited significantly lower leptin values (10.8 1.1) as compared to patients with Prader-Willi syndrome (31 2.6; p < 0.01). The linear correlation between leptin and insulin in the two groups of patients was not statistically significant. The data suggested that obesity in Prader-Willi subjects could be caused by failure of leptin to reach its target in the brain ,as a consequence of defects in the receptor or in postreceptor processing ,whereas data on obese patients with Down syndrome could be due to a different pathogenetic origin.
The authors studied the physiology of human uterine muscle contraction. Clinical experimental results obtained from elementary electrophysiological, electrohysterographic and pharmacological studies ...using PGs suggested that uterine muscle contraction does not originate in "pacemaker" areas. These data also showed that the electric phenomenon is not propagated along preferential "rails".
Human growth hormone (HGH) has been measured in the plasma of 30 subjects at term of pregnancy, at 96 and at 144 h after delivery. The subjects were then selected into three groups: 10 were studied ...in basal conditions, 10 were given pyridoxine, 10 were given enantate testosterone and valerianate estradiol. In the first group the correlation index (t of Student) was not significant showing the lack of correlation among the tested averages. IN the second group the index of Student was weakly significant (t = 2.36, p less than 0.05). In the third group the Authors found a high representative correlation between the term of pregnancy and the 144th hour after delivery (t = 3.81, p less than 0.01) and between the 96th and 144th hour after delivery (t = 2.95, p less than 0.01).
The Authors have studied the T3, T4 and TBG behaviour at the end of pregnancy and after 96 h and 144 h from delivery in 25 pregnant women. The patients have been randomly divided into two groups: the ...first was studied in basal conditions and the second after administration of enantate testosterone and valerianate estradiol. In the first group T3 and T4 values increased slightly. A higher increase was noticed from the 96th to the 144th h from delivery. In the second group T3 and T4 values were discording.