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Search Results: 1 - 10 of 174806 matches for " Simona De Toffol "
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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid H?ller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati
Case Reports in Genetics , 2013, DOI: 10.1155/2013/306098
Abstract: Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. 1. Introduction Wolf-Hirschhorn Syndrome (WHS) results from partial deletion of the distal short arm of chromosome 4 (4p16.3). The clinical features are variable, with increasing severity depending on the extent of the deletion, although the minimal diagnostic criteria should include the association of typical facial appearance, growth delay, mental retardation, and seizures [1]. Considering that small and large 4p16.3 deletions are associated with mild and severe WHS phenotype, respectively, Zollino et al. [1] have suggested a WHS classification in three categories based on the clinical presentation, all sharing the minimal diagnostic criteria: “mild” form (deletions < 3.5?Mb) refers to patients with a mild mental retardation (MR), possible fluent language, and usually independent walking by the age of 2-3 years; “classical” form (deletions 5–18?Mb) is characterized by major malformations, severe psychomotor delay (PMD), delay or absence of speech, and late walking; “severe” one (deletions > 22–25?Mb) has severe PMD and MR, facial anomalies, severe scoliosis, and psychotic behaviour. At a molecular level, two WHS critical regions (WHSCRs) have been identified: the WHSCR region, which is 165?Kb in size and it is located at about 2?Mb from the telomere between the markers D4S166 and D4S3327 [2], and the WHSCR-2 region which embraces a 300–600?Kb interval between the loci D4S3327 and D4S168 and it is mapped distal to WHSCR at about 1,9?Mb from the telomere [1]. Most of the 4p16 deletions involved in WHS occur de novo, but in 10%–15% of cases the derivative chromosome 4 originate from chromosomal rearrangements in one of the parents. Four different rearrangements are reported [1]: (1) isolated 4p deletion (70% of patients); (2) unbalanced translocation (22%); (3) inverted duplication associated with terminal 4p deletion (6%); (4) recombinant chromosome 4, rec(4), consisting of unbalanced pericentric inversion with a large 4q segment duplicated on the deleted 4p (2%). Herein we describe a
Hyperlactatemia during cardiopulmonary bypass: determinants and impact on postoperative outcome
Marco Ranucci, Barbara De Toffol, Giuseppe Isgrò, Federica Romitti, Daniela Conti, Maira Vicentini
Critical Care , 2006, DOI: 10.1186/cc5113
Abstract: Five hundred consecutive patients undergoing cardiac surgery with cardiopulmonary bypass were admitted to this prospective observational study. During cardiopulmonary bypass, serial arterial blood gas analyses with blood lactate and glucose determinations were obtained. Hyperlactatemia was defined as a peak arterial blood lactate concentration exceeding 3 mmol/l. Pre- and intraoperative factors were tested for independent association with the peak arterial lactate concentration and hyperlactatemia. The postoperative outcome of patients with or without hyperlactatemia was compared.Factors independently associated with hyperlactatemia were the preoperative serum creatinine value, the presence of active endocarditis, the cardiopulmonary bypass duration, the lowest oxygen delivery during cardiopulmonary bypass, and the peak blood glucose level. Once corrected for other explanatory variables, hyperlactatemia during cardiopulmonary bypass remained significantly associated with an increased morbidity, related mainly to a postoperative low cardiac output syndrome, but not to mortality.Hyperlactatemia during cardiopulmonary bypass appears to be related mainly to a condition of insufficient oxygen delivery (type A hyperlactatemia). During cardiopulmonary bypass, a careful coupling of pump flow and arterial oxygen content therefore seems mandatory to guarantee a sufficient oxygen supply to the peripheral tissues.Hyperlactatemia (HL) is a well-recognized marker of circulatory failure, and its severity has been associated with mortality in different clinical conditions [1,2]. After cardiac surgery, HL is relatively common [3,4] and is associated with morbidity and mortality [4]. During cardiac surgery with cardiopulmonary bypass (CPB) in adult patients, HL is detectable at a considerable (10% to 20%) rate [5,6] and is associated with postoperative morbidity and mortality [5]. At present, the nature of HL during and after cardiac operations is not totally clear, but the majority
Eficácia da hidroterapia em crian?as com encefalopatia cr?nica n?o progressiva da infancia: revis?o sistemática
Jacques, Karoline de Carvalho;Drumond, Nayana Rocha;Andrade, Silmara Aparecida Figueiredo;Chaves Júnior, Israel Penaforte;Toffol, Walesca Carla de;
Fisioterapia em Movimento , 2010, DOI: 10.1590/S0103-51502010000100005
Abstract: introduction: now cerebral palsy is considered like chronic encephalopathy no progressive of the childhood and defined as any disorder characterized by alteration in the structure and function of the body, activity and participation due to a lesion no progressive of the brain in development. several techniques physiotherapy exist for individuals rehabilitation with that pathology, however, no technique stands out as more effective in the literature. the use of the approach hydrotherapy becomes viable in several aspects structural, functional and social in the rehabilitation process. objetive: it is done necessary to evaluate, through the selection and discerning analysis of article, the evidences of the effectiveness of the hydrotherapy in children and/or adolescents with chronic encephalopathy no progressive of the childhood with inferior age to 17 years. methods: research was accomplished at the virtual library in health in the bases of bibliographical data of lilacs, medline, scielo, cochrane library and search active in national and international newspapers. results: the databases located only two article of systematic review on the approached theme. through these, it was possible to locate for search activates six scientific articles. these were analyzed in agreement with the inclusion criteria, and finally, only three articles composed the study, where the same ones were appraised as for the methodological quality. no article of the type randomized controlled trial was found, just an quasy- randomized one. conclusion: it had limited evidence of the effects hydrotherapy in that population. like this being, future studies of the type randomized controlled trial are made necessary for the clinical conduct and for scientific community.
A discrete Single Delay Model for the Intra-Venous Glucose Tolerance Test
Simona Panunzi, Pasquale Palumbo, Andrea De Gaetano
Theoretical Biology and Medical Modelling , 2007, DOI: 10.1186/1742-4682-4-35
Abstract: A new, discrete Single Delay Model (SDM) of the glucose/insulin system is proposed, applicable to Intra-Venous Glucose Tolerance Tests (IVGTTs) as well as to multiple injection and infusion schemes, which is fitted to both glucose and insulin observations simultaneously. The SDM is stable around baseline equilibrium values and has positive bounded solutions at all times. Applying a similar definition as for the Minimal Model (MM) SI index, insulin sensitivity is directly represented by the free parameter KxgI of the SDM.In order to assess the reliability of Insulin Sensitivity determinations, both SDM and MM have been fitted to 40 IVGTTs from healthy volunteers. Precision of all parameter estimates is better with the SDM: 40 out of 40 subjects showed identifiable (CV < 52%) KxgI from the SDM, 20 out of 40 having identifiable SI from the MM. KxgI correlates well with the inverse of the HOMA-IR index, while SI correlates only when excluding five subjects with extreme SI values. With the exception of these five subjects, the SDM and MM derived indices correlate very well (r = 0.93).The SDM is theoretically sound and practically robust, and can routinely be considered for the determination of insulin sensitivity from the IVGTT. Free software for estimating the SDM parameters is available.The measurement of insulin sensitivity in humans from a relatively non-invasive test procedure is being felt as a pressing need, heightened in particular by the increase in the social cost of obesity-related dysmetabolic diseases [1-8]. Two experimental procedures are in general use for the estimation of insulin sensitivity: the Intra-Venous Glucose Tolerance Test (IVGTT), often modeled by means of the so-called Minimal Model (MM) [9,10], and the Euglycemic Hyperinsulinemic Clamp (EHC) [11]. The EHC is often considered the "gold standard" for the determination of insulin resistance. However, the standard IVGTT is simpler to perform, carries no significant associated risk and delivers po
Advantages of the single delay model for the assessment of insulin sensitivity from the intravenous glucose tolerance test
Simona Panunzi, Andrea De Gaetano, Geltrude Mingrone
Theoretical Biology and Medical Modelling , 2010, DOI: 10.1186/1742-4682-7-9
Abstract: The SDM was applied to 74 IVGTTs from lean (19), overweight (22), obese (22) and morbidly obese (11) subjects. Estimates from the SDM (KxgI) were compared with the corresponding MM (SI), 1/HOMA-IR index and Euglycemic-Hyperinsulinemic Clamp (M-EHC over 7 subjects) estimates.KxgI was identifiable in 73 out of 74 subjects (CV = 69% in the 74th subject) and ranged from 1.25 × 10-5 to 4.36 × 10-4min-1pM-1; SI CV was >52% in 36 subjects (up to 2.36 × 109%) and presented 18 extreme values (≤ 1.5 × 10-12 or ≥ 3.99).KxgI correlated well with 1/HOMA-IR (r = 0.56, P < 0.001), whereas the correlations KxgI-SI and 1/HOMA-IR-SI were high (r = 0.864 and 0.52 respectively) and significant (P < 0.001 in both cases) only in the non-extreme SI sub-sample (56 subjects). Correlations KxgI vs. M-EHC and SI vs. M-EHC were positive (r = 0.92, P = 0.004 and r = 0.83, P = 0.02 respectively). KxgI decreased for higher BMI's (P < 0.001), SI significantly so only over the non-extreme-SI sub-sample. The Acute Insulin Response Index was also computed and the expected inverse (hyperbolic) relationship with the KxgI observed.Precise estimation of insulin sensitivity over a wide range of BMI, stability of all other model parameters, closer adherence to accepted physiology make the SDM a useful alternative tool for the evaluation of insulin sensitivity from the IVGTT.Insulin Resistance (IR), an impaired metabolic response to circulating insulin resulting in a decreased ability of the body to respond to the hormone by suppressing Hepatic Glucose Output and enhancing tissue glucose uptake, plays a central role in the development of Type 2 Diabetes Mellitus. In fact, IR develops long before diabetes, as has been described in the relatives of type 2 diabetic patients [1]. Further, the metabolic consequences of elevated body mass index (BMI), such as IR, are the critical factors that confer risk for type 2 diabetes [2] or cardiovascular disease associated with fatness [3].IR is present in a variety of di
Metal distribution in sloshing galaxy clusters: the case of A496
Simona Ghizzardi,Sabrina De Grandi,Silvano Molendi
Physics , 2014, DOI: 10.1051/0004-6361/201424016
Abstract: We report results from a detailed study of the sloshing gas in the core of A496. We detect the low temperature/entropy spiral feature found in several cores, we also find that conduction between the gas in the spiral and the ambient medium must be suppressed by more than one order of magnitude with respect to Spitzer conductivity. Intriguingly, while the gas in the spiral features a higher metal abundance than the surrounding medium, it follows the entropy vs metal abundance relation defined by gas lying outside the spiral. The most plausible explanation for this behavior is that the low entropy metal rich plasma uplifted through the cluster atmosphere by sloshing, suffers little heating or mixing with the ambient medium. While sloshing appears to be capable of uplifting significant amounts of gas, the limited heat exchange and mixing between gas in and outside the spiral implies that this mechanism is not at all effective in: 1) permanently redistributing metals within the core region and 2) heating up the coolest and densest gas, thereby providing little or no contribution to staving of catastrophic cooling in cool cores.
Metal jumps across sloshing cold fronts: the case of A496
Simona Ghizzardi,Sabrina De Grandi,Silvano Molendi
Physics , 2013, DOI: 10.1002/asna.201211871
Abstract: Cold-fronts in cool-core clusters are thought to be induced by minor mergers and to develop through a sloshing mechanism. While temperature and surface-brightness jumps have been detected and measured in many systems, a detailed characterization of the metal abundance across the discontinuity is only available for a handful of objects. Within the sloshing scenario, we expect the central cool and metal rich gas to be displaced outwards into lower abundance regions, thus generating a metal discontinuity across the front. We analyzed a long (120 ksec) XMM-Newton observation of A496 to study the metal distribution and its correlation with the cold-fronts. We find Fe discontinuities across the two main cold-fronts located ~60 kpc NNW and ~160 kpc South of the peak and a metal excess in the South direction.
Bounding normalization time through intersection types
Erika De Benedetti,Simona Ronchi Della Rocca
Computer Science , 2013, DOI: 10.4204/EPTCS.121.4
Abstract: Non-idempotent intersection types are used in order to give a bound of the length of the normalization beta-reduction sequence of a lambda term: namely, the bound is expressed as a function of the size of the term.
A type assignment for lambda-calculus complete both for FPTIME and strong normalization
Erika De Benedetti,Simona Ronchi Della Rocca
Computer Science , 2014,
Abstract: One of the aims of Implicit Computational Complexity is the design of programming languages with bounded computational complexity; indeed, guaranteeing and certifying a limited resources usage is of central importance for various aspects of computer science. One of the more promising approaches to this aim is based on the use of lambda-calculus as paradigmatic programming language and the design of type assignment systems for lambda-terms, where types guarantee both the functional correctness and the complexity bound. Here we propose a system of stratified types, inspired by intersection types, where intersection is a non-associative operator. The system, called STR, is correct and complete for polynomial time computations; moreover, all the strongly normalizing terms are typed in it, thus increasing the typing power with respect to the previous proposals. Moreover, STR enjoys a stronger expressivity with respect to the previous system STA, since it allows to type a restricted version of iteration.
Cross-Effects of Nitrogen and Sulphur Starvation in Chlorella sorokiniana 211/8K  [PDF]
Simona Carfagna, Giovanna Salbitani, Claudia Bottone, Anna De Marco, Vincenza Vona
Natural Resources (NR) , 2015, DOI: 10.4236/nr.2015.64020
Abstract: Nitrogen (N) and sulphur (S), being essential macronutrients, have important roles in microalgae metabolism. Effects of N- or S-shortage were investigated in the green microalgae Chlorella sorokiniana subjected to 24 h of starvation, by measuring the glutamine synthetase (GS) and O-ace- tylserine(thiol)lyase (OASTL) activities, proteins and amino acids levels. To test possible metabolic impact related to carbon (C) metabolism in response to N- or S-deprivation, starch and total C, N and S contents were also determined. The growth of C. sorokiniana cells was affected by N or S availability. The algae cultured for 24 h in a medium deprived of nitrogen or sulphur showed a decrease in the growth rate and changes in the average volume cell. Nitrogen starvation affected proteins level in the algae cells more than S-deprivation did. The decline in the protein levels observed under S-deficient conditions was coupled with the accumulation of the amide glutamine and with OASTL activity increase; additionally, N-deficiency promoted a decrease in cysteine (Cys) levels (50%) and an increase in GS activity. Nevertheless, S-deprivation had negligible effects on GS activity, while N-deprivation significantly affected OASTL activity. Total C was also estimated in cells N- or S-deprived; nitrogen deprivation strongly affected total C content more than S-deprivation, which in addition reduced the content of C and N, but leaves intact their ratios. Our results support the hypothesis that in Chlorella sorokiniana cells a reciprocal influence of N, S and C assimilation occurs.
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