Conditioning of Superconductive Properties in Graph-Shaped Reticles.

We report on phenomena observed in planar integrated networks obtained connecting superconducting island by Josephson tunnel junctions. These networks, identifiable as tree-like graphs, have branches consisting of series arrays of Josephson junctions which can be individually current biased and characterized. Both Josephson supercurrents and gap parameters of the arrays embedded in the graph structures display properties significantly different from those of "reference" arrays fabricated on the same chips and having identical geometrical shape. The temperature and magnetic field dependencies of the Josephson current of the embedded arrays both show a singular behavior when a critical value is reached by the Josephson characteristic energy. The gap parameter of the junctions generating the embedded arrays is higher than that of the junctions forming the reference geometrical arrays.

Experimental Study of Spectral Properties of a Frenkel-Kontorova System.

We report on microwave emission from linear parallel arrays of underdamped Josephson junctions, which are described by the Frenkel-Kontorova (FK) model. Electromagnetic radiation is detected from the arrays when biased on current singularities (steps) appearing at voltages V(n)=Φ(0)(nc̅/L), where Φ(0)=2.07×10(-15) Wb is the magnetic flux quantum, and c̅, L, and n are, respectively, the speed of light in the transmission line embedding the array, L its physical length, and n an integer. The radiation, detected at fundamental frequency c̅/2L when biased on different singularities, indicates shuttling of bunched 2π kinks (magnetic flux quanta). Resonance of flux-quanta motion with the small-amplitude oscillations induced in the arrays gives rise to fine structures in the radiation spectrum, which are interpreted on the basis of the FK model describing the resonance. The impact of our results on design and performances of new digital circuit families is discussed.

Characterization of anomalous pair currents in Josephson junction networks.

Measurements performed on superconductive networks shaped in the form of planar graphs display anomalously large currents when specific branches are biased. The temperature dependences of these currents evidence that their origin is due to Cooper pair hopping through the Josephson junctions connecting the superconductive islands of the array. The experimental data are discussed in terms of theoretical models which predict, for the system under consideration, an inhomogeneous Cooper pair distribution on the superconductive islands of the network as a consequence of a Bose-Einstein condensation phenomenon.

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement.

OBJECTIVE: The objective of this study is to evaluate genetic risks already present before pregnancy in a cohort of pregnant women referred for prenatal genetic counseling exclusively for advanced maternal age (AMA). METHOD: We retrospectively reviewed the records of 1353 women referred over 1 year (2010) for pre-test genetic counseling with the only indication of AMA at three Italian Clinical Genetic Services. RESULTS: Of the 1353 women fulfilling the inclusion criteria of the study, 87 (6.4%) had cumulatively 94 genetic risk factors not previously identified (one risk factor in 80 patients and two risk factors in seven). Twenty-six risk factors (27.7%) concerned heterogeneous or multifactorial conditions and 68 (72.3%) Mendelian or chromosomal disorders and consanguinity.In nine out of these 87 women, the estimated risk for the offspring of a genetic disease or a significant structural anomaly was >5%. Additional testing according to the identified risks was performed in 36 of these 87 women/families. CONCLUSIONS: The proportion of cases with additional risk factors is smaller than reported in previous studies, but it remains substantial and confirms the need for strategies to increase awareness of the public and health professionals responsible for the care of women in childbearing age.

Superconducting anisotropy in (CaCuO2)n/(SrTiO3)m superlattices.

The superconducting properties of (CaCuO2)n/(SrTiO3)m artificial superlattices have been investigated via transport measurements under the application of external magnetic fields. The coherence lengths in the plane of the substrate and in the direction perpendicular to it (ξab and ξc, respectively) have been measured while varying m, the thickness of the SrTiO3 block. The results show that with increasing m, i.e. with increasing structural anisotropy, the superconducting anisotropy γ = ξab/ξc decreases. This apparent anomalous relation between the structural and the superconducting anisotropies suggests that γ is more affected by local doping at the interface rather than by the separation between the superconducting blocks. This interpretation of the experimental results has been confirmed by both the irreversibility lines and the magnetic field dependence of the activation energy for fluxon motion.

[The role of hypomagnesiuria in urolithiasis and renal colic: results from a prospective study of a metabolic evaluation protocola]. / Ruolo dell'ipomagnesuria nella colica renale da urolitiasi: risultati di uno studio prospettico sull'impiego di un protocollo di valutazione metabolica.

AIM: The stone disease of the urinary tract (urolithiasis) is a growing disease. The identification of metabolic disorders, treatable with prophylactic therapy, appears to be clinically important. The aim of this study was the analysis of metabolic disorders that promote and support the urolithiasis in a cohort of patients with renal colic at an Emergency Department. METHODS: In this prospective case series, we enrolled consecutive patients with renal colic treated at an Emergency Department within a Regional Teaching Hospital. We implemented a structured metabolic evaluation, which included blood chemistry studies, stone analysis and a 24-hour urine collection. We then evaluated the frequency of metabolic abnormalities alone or in combination. RESULTS: We enrolled 39 patients whit renal colic and a diagnosis of urolithiasis: 21 (54%) were males and the median age was 43.6 years (range 20-70). The most frequently observed type of stone was that of calcium oxalate (74%). Hypomagnesiuria was the most common metabolic abnormality found at the 24-hour urine collection (22/39, 56%), followed by hypocalciuria (31%), hypernatruria (20%), hyperuricuria (18%) and hyperoxaluria (15%). Among the associations of metabolic abnormalities, the hypocalciuria /hypomagnesuria was that observed with higher frequency (23%). CONCLUSION: We report an incidence of hypomagnesiuria (60%) in patients with renal colic higher than has ever been described in the literature. This result could be of importance in the knowledge of the pathogenesis of the urolithiasis and could have interesting implications in clinical practice.

Diamond layers grown by chemical vapor deposition on NbN systems and NbN/SiO2-based devices.

Deposits of individual diamond grains and continuous polycrystalline diamond layers have been generated by means of a HFCVD technique onto different types of untreated or seeded NbN surfaces. To test the feasibility of using diamond layers as protective coatings for aerospace applications, we carried out diamond deposition onto the lithographically defined NbN microelectrodes of a NbN/SiO2 multifinger device. The morphological and structural features of the diamond deposits and of the substrates were characterized by FE-SEM, XRD and Raman spectroscopy. The preferential growth of diamond on the superconductive NbN enables the selective coating of the NbN microstripes sputtered on the insulating SiO2. Moreover the diamond coating procedure is able to preserve the structural integrity of the substrate material and to retain the shaped architecture of the device. For the polycrystalline diamond layers grown on NbN a residual stress of -9.8 GPa, largely due to thermal stress, has been estimated by Raman analysis. The diamond coatings of the NbN-based architectures result to be mechanically stable.

Low temperature conductivity of carbon nanotube aggregates.

We compare, over wide temperature ranges, the transport properties of single-wall carbon nanotubes arranged in the form of aligned arrays or in the form of fibres. The experimental data show that both the forms of aggregates present a crossover in the transport mechanism from three-dimensional hopping of the electrons between localized states at high temperature to fluctuation-induced tunnelling across potential barriers at low temperature. The role of the junctions formed between the bundles in the array and between the nanotubes inside the fibres is discussed on the basis of the experimental results.

Indentation modulus and hardness of viscoelastic thin films by atomic force microscopy: A case study.

We propose a nanoindentation technique based on atomic force microscopy (AFM) that allows one to deduce both indentation modulus and hardness of viscoelastic materials from the force versus penetration depth dependence, obtained by recording the AFM cantilever deflection as a function of the sample vertical displacement when the tip is pressed against (loading phase) and then removed from (unloading phase) the surface of the sample. Reliable quantitative measurements of both indentation modulus and hardness of the investigated sample are obtained by calibrating the technique through a set of different polymeric samples, used as reference materials, whose mechanical properties have been previously determined by standard indentation tests. By analyzing the dependence of the cantilever deflection versus time, the proposed technique allows one to evaluate and correct the effect of viscoelastic properties of the investigated materials, by adapting a post-experiment data processing procedure well-established for standard depth sensing indentation tests. The technique is described in the case of the measurement of indentation modulus and hardness of a thin film of poly(3,4-ethylenedioxythiophene) doped with poly(4-styrenesulfonate), deposited by chronoamperometry on an indium tin oxide (ITO) substrate.

Charge transport and tunneling in single-walled carbon nanotube bundles.

We investigate experimentally the transport properties of single-walled carbon nanotube bundles as a function of temperature and applied current over broad intervals of these variables. The analysis is performed on arrays of nanotube bundles whose axes are aligned along the direction of the externally supplied bias current. The data are found consistent with a charge transport model governed by the tunneling between metallic regions occurring through potential barriers generated by a nanotube's contact areas or bundle surfaces. Based on this model and on experimental data, we describe quantitatively the dependencies of the height of these barriers upon bias current and temperature.

Quantitative measurement of indentation hardness and modulus of compliant materials by atomic force microscopy.

An atomic force microscopy (AFM) based technique is proposed for the characterization of both indentation modulus and hardness of compliant materials. A standard AFM tip is used as an indenter to record force versus indentation curves analogous to those obtained in standard indentation tests. In order to overcome the lack of information about the apex geometry, the proposed technique requires calibration using a set of reference samples whose mechanical properties have been previously characterized by means of an independent technique, such as standard indentation. Due to the selected reference samples, the technique has been demonstrated to allow reliable measurements of indentation modulus and hardness in the range of 0.3-4.0 GPa and 15-250 MPa, respectively.

Hybrid carbon nanotube/nanodiamond structures as electron emitters for cold cathodes.

The field emission properties of hybrid carbon nanotubes/nanodiamond structures produced by one-step chemical vapor deposition (CVD) process have been investigated in order to assess their application as electron emitters for cold cathodes. The electron emission properties of a series of samples have been investigated by current-pressure, current-voltage and current-time measurements with the aim of testing the emission stability under working conditions relevant to technological applications. Stable emission, high values of current density and lack of arcing have been observed during prolonged working cycles, and without degradation of the material structure.

Origins and spread of agriculture in Italy: a nonmetric dental analysis.

Dental morphological traits were employed in this study as direct indicators of biological affinities among the populations that inhabited the Italian peninsula from the Upper Paleolithic-Mesolithic to Medieval times. Our analysis aims at contributing to the ongoing debate regarding the origin and spread of agriculture in the peninsula by contrasting the dental evidence of archaeological and modern molecular samples. It is not possible to generalize given the complex and dynamic nature of these populations. However, the results from the principal component analysis, maximum likelihood, mean measure of divergence, and multidimensional scaling do indicate a net separation of the Paleo-Mesolithic sample from the other groups that is not related to dental reduction. This suggests that the shift in dental morphology was the product of Neolithic populations migrating into the peninsula from other areas. Nonetheless, the Paleo-Mesolithic populations share several discriminative traits with the Neolithic group. The biological relevance of such evidence suggests that, to some minor extent, the spread of agriculture did not occur by total population replacement. Because of regional small sample sizes, this hypothesis cannot be tested on a micro-regional scale. It is, however, feasible to depict a scenario where processes of genetic mixture or replacement probably took place at different rates on a macro-regional level.

McCune-Albright syndrome: a longitudinal clinical study of 32 patients.

We report the diagnostic clinical features and their long term evolution in 32 patients with McCune-Albright syndrome. Patient data are made up of two periods: the first, classified as personal history, is from birth until the time when the diagnosis of McCune-Albright syndrome was made; the second, classified as clinical observation, is from the first observation until the end of follow up. The total duration of these two periods was 9.6+/-2.9 yr; mean age at first observation was 5.7 yr (range 0.7-11 yr). The probability of manifesting main clinical signs according to age was calculated: almost all had skin dysplasia at birth, 50% probability of peripheral precocious puberty in females at 4 years and 50% of bone dysplasia at 8 years of age were found. Other clinical signs had diagnostic relevance when preceding the main signs leading to diagnosis of McCune-Albright syndrome even without specific genetic investigation. The most important clinical manifestations have different evolutions: skin lesions increase in dimensions according to body growth; precocious puberty in females evolves rapidly but periods of regression can be seen in some patients; bone dysplasia in most patients evolves with an increase both in the number of affected bones and in the severity of lesions.

Detection of the deltaF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology.

In the present paper, we applied surface plasmon resonance (SPR) and biosensor technologies for biospecific interaction analysis (BIA) to detect deltaF508 mutation (F508del) of the cystic fibrosis transmembrane regulator (CFTR) gene in both homozygous as well as heterozygous human subjects. The proposed method is divided into three major steps. The first step is the immobilization on a SA5 sensor chip of two biotinylated oligonucleotide probes (one normal, N-508, and the other mutant, deltaF508) that are able to hybridize to the CFTR gene region involved in F508del mutation. The second step consists of the molecular hybridization between the oligonucleotide probes immobilized on the sensor chips and (1) wild-type or mutant oligonucleotides, as well as (2) single-stranded DNA obtained by asymmetric polymerase chain reaction (PCR), performed using genomic DNA from normal individuals and from F508del heterozygous and F508del homozygous patients. The third, and most important, step consists of the evaluation of differential stabilities of DNA/DNA molecular complexes generated after hybridization of normal and deltaF508 probes immobilized on the sensor chips. The results obtained strongly suggest that the proposed procedure employing SPR technology enables a one-step, nonradioactive protocol for the molecular diagnosis of F508del mutation of the CFTR gene. This approach could be of interest in clinical genetics, as the hybridization step is oftenly required to detect microdeletions present within PCR products.

[The prevention of beta-thalassemia homozygosity]. / La prevenzione dell'omozigosi beta-talassemica.

Theoretical and practical aspects of programs for prevention of homozygous beta-thalassaemia are discussed and data concerning their efficacy are presented. Prevention of the beta-thalassaemia homozygous state is feasible at a reasonable cost.

Reproductive behaviour of families segregating for Cooley's anaemia before and after the availability of prenatal diagnosis.

The reproductive behaviour of couples with heterozygous beta thalassaemia, with at least one affected child, was investigated for the period 1955 to 1984 and was compared to the behaviour of control couples matched for age, age at marriage, and presence of at least one child. The comparisons were made as a function of knowledge of the risk and availability of prenatal diagnosis and abortion. It was found that the couples segregating for Cooley's anaemia, before knowledge of the risk, had a higher reproductive rate than that of control couples. Knowledge of the genetic risk had a different effect on reproductive behaviour in the 1950s from that in later years. The difference was attributed both to the influence of cultural factors and to technical, therapeutic, and diagnostic advances.

Reproductive behavior of thalassemic couples segregating for Cooley anemia.

The reproductive behavior in 1984 of families segregating for Cooley anemia in Ferrara was compared with that of a control group of families, matched for some biological variables which affect fertility. At the resolution power of the sample, it was found that there is no significant difference in these variables due to segregation for Cooley anemia, and it appears that there is no longer significant reproductive compensation in thalassemic couples, although a tendency to compensate does still exist. The increased life span of children affected by Cooley anemia, due to improvements in treatment in the past decade, is probably the main reason why the compensatory reproductive behaviour of the past has almost disappeared.

[Effort hernia of the diaphragm: apropos of a case]. / Le ernie da sforzo del diaframma: a proposito di un caso.

The so-called stress diaphragmatic hernias are very unusual in the group of post-traumatic hernias. The Authors report a case and consider clinical, anatomical as well as pathophysiological aspects of the disease. Diagnostic procedures and therapeutic approach are also stressed.