530 research outputs found
A detailed study of rainfall in the Roman area in the decade 1992–2001
A study of the rainfall regime in the Roman area over the decade 1992-2001 has been undertaken on using tipping pluviometers data, coming from 23 climatic stations located in Rome and in its surroundings. The time response of the
instruments and the automatic acquisition system ensure a resolution of less than 1 minute, thus offering the possibility of an accurate evaluation of intense and extreme
events. The mean yearly rainfall over the whole decade has been determined for each station, obtaining values between 682 and 870mm/year, with a geographical average of 771 and a standard deviation of 47. A study of the rainfall distribution within the 48 half-hours of the day has been carried out in order to ascertain whether preferred times for rain events exist. The analysis has evidenced that this is the case, with high rainfall rates mostly occurring in the late morning and low rates in the late night. Typical values of the maximum 30-min rainfall ever recorded at any given station oscillate between 25 and almost 60 mm. A separate analysis of rainy and dry days has been carried out on studying the statistics of the time delays between two successive tips of the pluviometer. This allowed a characterization of the intense rains as well as of the droughts: the resulting histograms show the existence of a bimodal distribution explained in terms of two kinds of rain events, intense summer showers and drizzles distributed over the rest of the year. As for the droughts, the longest durations appear to range from one to about seven months. On confining the analysis to the rainy days only, the rain intensity data for each station has been plotted and fitted with a Weibull distribution. The corresponding Weibull parameters, while gathering around common mean values, do not show any recognizable pattern when regressed, for instance, versus the altitude of the station or the distance from the coastline. Last, the likelihood that a day of the year, taken at random, be a rainy day or not has been computed for each station yielding probability values ranging from 0.18 to 0.22
Massive normalization of olfactory bulb output in mice with a 'monoclonal nose'
Perturbations in neural circuits can provide mechanistic understanding of the neural correlates of behavior. In M71 transgenic mice with a 'monoclonal nose', glomerular input patterns in the olfactory bulb are massively perturbed and olfactory behaviors are altered. To gain insights into how olfactory circuits can process such degraded inputs we characterized odor-evoked responses of olfactory bulb mitral cells and interneurons. Surprisingly, calcium imaging experiments reveal that mitral cell responses in M71 transgenic mice are largely normal, highlighting a remarkable capacity of olfactory circuits to normalize sensory input. In vivo whole cell recordings suggest that feedforward inhibition from olfactory bulb periglomerular cells can mediate this signal normalization. Together, our results identify inhibitory circuits in the olfactory bulb as a mechanistic basis for many of the behavioral phenotypes of mice with a 'monoclonal nose' and highlight how substantially degraded odor input can be transformed to yield meaningful olfactory bulb output
Mitochondrial Complex III Deficiency Caused by TTC19 Defects : Report of a Novel Mutation and Review of Literature
We report about a patient with infantile-onset neurodegenerative disease associated with isolated mitochondrial respiratory chain complex III (cIII) deficiency. The boy, now 13 years old, presented with language regression and ataxia at 4 years of age and then showed a progressive course resulting in the loss of autonomous gait and speaking during the following 2 years. Brain MRI disclosed bilateral striatal necrosis. Sequencing of a panel containing nuclear genes associated with cIII deficiency revealed a previously undescribed homozygous rearrangement (c.782_786delinsGAAAAG) in TTC19 gene, which results in a frameshift with premature termination (p.Glu261Glyfs(*)8). TTC19 protein was absent in patient's fibroblasts. TTC19 encodes tetratricopeptide 19, a putative assembly factor for cIII. To date TTC19 mutations have been reported only in few cases, invariably associated with cIII deficiency, but presenting heterogeneous clinical phenotypes. We reviewed the genetic, biochemical, clinical and neuroradiological features of TTC19 mutant patients described to date
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
BACKGROUND: Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects.
METHODS: We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with RMND1 mutations. In addition, we reviewed all the previously published cases to determine the genotype-phenotype correlates and performed survival analysis to identify prognostic factors.
RESULTS: We identified 14 new cases from 11 pedigrees that harbour recessive RMND1 mutations, including 6 novel variants: c.533C\u3eA, p.(Thr178Lys); c.565C\u3eT, p.(Gln189*); c.631G\u3eA, p.(Val211Met); c.1303C\u3eT, p.(Leu435Phe); c.830+1G\u3eA and c.1317+1G\u3eT. Together with all previously published cases (n=32), we show that congenital sensorineural deafness, hypotonia, developmental delay and lactic acidaemia are common clinical manifestations with disease onset under 2 years. Renal involvement is more prevalent than seizures (66% vs 44%). In addition, median survival time was longer in patients with renal involvement compared with those without renal disease (6 years vs 8 months, p=0.009). The neurological phenotype also appears milder in patients with renal involvement.
CONCLUSIONS: The clinical phenotypes and prognosis associated with RMND1 mutations are more heterogeneous than that were initially described. Regular monitoring of kidney function is imperative in the clinical practice in light of nephropathy being present in over 60% of cases. Furthermore, renal replacement therapy should be considered particularly in those patients with mild neurological manifestation as shown in our study that four recipients of kidney transplant demonstrate good clinical outcome to date
Label-free fiber optic optrode for the detection of class C beta-lactamases expressed by drug resistant bacteria
This paper reports the experimental assessment of an automated optical assay based on label free optical fiber optrodes for the fast detection of class C beta-lactamases (AmpC BLs), actually considered as one of the most important sources of resistance to beta-lactams antibiotics expressed by resistant bacteria. Reflection-type long period fiber gratings (RT-LPG) have been used as highly sensitive label free optrodes, while a higher affine boronic acid based ligand was here selected to enhance the overall assay performances compared to those obtained in our first demonstration. In order to prove the feasibility analysis towards a fully automated optical assay, an engineered system was developed to simultaneously manipulate and interrogate multiple fiber optic optrodes in the different phases of the assay. The automated system tested in AmpC solutions at increasing concentrations demonstrated a limit of detection (LOD) of 6 nM, three times better when compared with the results obtained in our previous work. Moreover, the real effectiveness of the proposed optical assay has been also confirmed in complex matrices as the case of lysates of Escherichia coli overexpressing AmpC. (C) 2017 Optical Society of Americ
Highly dexterous 2-module soft robot for intra-organ navigation in minimally invasive surgery
Background: For some surgical interventions, like the Total Mesorectal Excision (TME), traditional laparoscopes lack the flexibility to safely maneuver and reach difficult surgical targets. This paper answers this need through designing, fabricating and modelling a highly dexterous 2-module soft robot for minimally invasive surgery (MIS). / Methods: A soft robotic approach is proposed that uses flexible fluidic actuators (FFAs) allowing highly dexterous and inherently safe navigation. Dexterity is provided by an optimized design of fluid chambers within the robot modules. Safe physical interaction is ensured by fabricating the entire structure by soft and compliant elastomers, resulting in a squeezable 2-module robot. An inner free lumen/chamber along the central axis serves as a guide of flexible endoscopic tools. A constant curvature based inverse kinematics model is also proposed, providing insight into the robot capabilities. / Results: Experimental tests in a surgical scenario using a cadaver model are reported, demonstrating the robot advantages over standard systems in a realistic MIS environment. / Conclusion: Simulations and experiments show the efficacy of the proposed soft robot
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