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We use exact diagonalization results to investigate how the ground state of a two-site, two-orbital Hubbard model evolves in terms of the crystal field energy and a magnetic spin symmetry breaking field. We show that, based on the behavior of a properly defined composite spin-orbital correlation function, the different regions of the related phase diagrams can be classified according to the extent to which spin and orbital degrees of freedom turn out to be correlated.

Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2‐related disorder presenting with cavitating and tigroid‐like pattern of leukodystrophy and without systemic biochemical abnormalities of mitochondrial disorders.

The magnetic response of a frustrated K

BackgroundJoubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases.MethodsWhile most variants are novel or extremely rare, we report on 11 recurring variants in seven genes, including three known ‘founder variants’ in the Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies in ~550 European patients with JS and compared them with controls (>15 000 Italian plus gnomAD), and with an independent cohort of ~600 JS probands from the USA.ResultsAll variants were markedly enriched in the European JS cohort compared with controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazim founder variant (TMEM216c.218G>T) was significantly enriched in American compared with European patients with JS, whileMKS1c.1476T>G was about 10 times more frequent among European JS. Frequencies of other variants were comparable in the two cohorts. Genotyping of several markers identified four novel European founder haplotypes.Two recurrent variants (MKS1c.1476T>G andKIAA0586c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. However, while fibroblasts from aMKS1c.1476T>G healthy homozygote showed impaired ability to form primary cilia and mildly reduced ciliary length, ciliary parameters were normal in cells from aKIAA0586c.428delG healthy homozygote.ConclusionThis study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants.

We study transport phenomena through a ballistic ferromagnet-superconductor-ferromagnet (F/S/F) junction, comparing the case in which the ferromagnetic order in the two F layers is of the standard Stoner type with the case where it is driven by a spin mass mismatch (SMM). It is shown that the two mechanisms lead to a different behavior in the charge and the spin conductances, especially when compared to the corresponding non-superconducting ferromagnet-normal-ferromagnet (F/N/F) junctions. In particular, when the injected current is perpendicular to the barrier, for high barrier transparency and large magnetization of the F layers, the large mass mismatch gives rise to an enhancement of both low-bias charge and spin conductances of the F/S/F junction, which is not observed in the equal-mass case. When all the allowed injection directions are considered, the low bias enhancement of the charge conductance for SMM leads still holds for high barrier transparency and large magnetization of the F layers. However, in the case of non-transparent interfaces, spin transport with SMM ferromagnets exhibits an opposite sign response with respect to the Stoner case at high biases for all magnetization values, also manifesting a significant amplification induced by superconductivity at the gap edge. The above mentioned differences can be exploited to probe the nature of the electronic mechanism underlying the establishment of the ferromagnetic order in a given material., Comment: 18 pages, 18 figures

Materials with strongly correlated electrons often exhibit interesting physical properties. An example of these materials is the layered oxide perovskite Sr2RuO4, which has been intensively investigated due to its unusual properties. Whilst the debate on the symmetry of the superconducting state in Sr2RuO4 is still ongoing, a deeper understanding of the Sr2RuO4 normal state appears crucial as this is the background in which electron pairing occurs. Here, by using low-energy muon spin spectroscopy we discover the existence of surface magnetism in Sr2RuO4 in its normal state. We detect static weak dipolar fields yet manifesting at an onset temperature higher than 50 K. We ascribe this unconventional magnetism to orbital loop currents forming at the reconstructed Sr2RuO4 surface. Our observations set a reference for the discovery of the same magnetic phase in other materials and unveil an electronic ordering mechanism that can influence electron pairing with broken time reversal symmetry. Strontium Ruthenate, Sr2RuO4, displays a remarkable number of intriguing physical phenomena, from superconductivity, to strain-induced ferromagnetism. Here, using low-energy muon spectroscopy, Fittipaldi et al. demonstrate the existence of unconventional magnetism at the surface of Sr2RuO4 in its normal state and without any applied strain.

GRIN2A encodes for the 2A subunit of N-methyl-D-aspartate receptors. Pathogenic variants in GRIN2A have been associated with a wide spectrum of neurodevelopmental disorders ranging from speech disorders and/or self-limiting epilepsy (childhood epilepsy with centrotemporal spikes) to severe and disabling phenotypes (atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-wave during sleep, Landau-Kleffner syndrome and infantile-onset epileptic encephalopathy). Here we describe a family with two affected sisters with atypical childhood epilepsy with centrotemporal spikes and their mildly affected mother carrying a novel N-terminal null variant in GRIN2A gene. These familial cases corroborate previous studies showing that loss-of-function GRIN2A variants are associated with milder phenotypes, possibly due to haploinsufficiency.

We perform a comparative study of the $\mathrm{K}{\mathrm{Cr}}_{3}{\mathrm{As}}_{3}$ and the ${\mathrm{K}}_{2}{\mathrm{Cr}}_{3}{\mathrm{As}}_{3}$ quasi-one-dimensional compounds and show that the strong interplay between the lattice and the spin degrees of freedom promotes a collinear ferrimagnetic ground state within the chains in the presence of intrachain antiferromagnetic couplings. We propose that the interchain antiferromagnetic coupling in $\mathrm{K}{\mathrm{Cr}}_{3}{\mathrm{As}}_{3}$ plays a crucial role in the experimentally observed spin-glass phase with low critical temperature. In the same region of the parameter space, we predict ${\mathrm{K}}_{2}{\mathrm{Cr}}_{3}{\mathrm{As}}_{3}$ to be nonmagnetic but on the verge of magnetism, sustaining interchain ferromagnetic spin fluctuations while the intrachain spin fluctuations are antiferromagnetic.

Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would be important to avoid precocious complications. To date, there are no effective therapeutic options in preventing progressive neurological deterioration. Substrate reduction therapy with Miglustat, a N‐alkylated sugar that inhibits the enzyme glucosylceramide synthase, has been proposed for the treatment of several lysosomal storage disorders such as Gaucher type 1 and Niemann Pick Type C diseases. However, data on Miglustat therapy in patients with GM1 gangliosidosis are still scarce. Methods We report here the results of Miglustat administration in four Italian children (average age: 55 months, range 20–125) affected by GM1 gangliosidosis type 2 treated in three different Italian pediatric hospitals specialized in metabolic diseases. Conclusion This treatment was safe and relatively well tolerated by all patients, with stabilization and/or slowing down of the neurological progression in three subjects., In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 gangliosides and related glycoconjugates in visceral organs, especially the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would be important to avoid precocious complications. We report here the results of Miglustat administration in four Italian children (average age: 55 months, range 20–125) affected by GM1 gangliosidosis type 2. This treatment was safe and relatively well tolerated by all patients, with stabilization and/or slowing down of the neurological progression in three subjects.

Thin films of the electron-doped high-temperature superconductor Nd2−xCexCuO4±δ have been deposited by dc sputtering technique on (100) SrTiO3 substrates. A tuning of the oxygen content in the as-grown non-superconducting samples has been achieved by changing the oxygen partial pressure during the growth in the Argon sputtering atmosphere. All samples show the superconducting transition after a suitable two-step thermal treatment in an oxygen-reducing environment. Structural and electrical transport properties on the as-grown as well as on the superconducting samples have been investigated. We find that the structural properties are consistent with a deficiency of the oxygen content with respect to optimally annealed samples, and that the transition to the superconducting phase is always accompanied by an increase of the c-axis lattice parameter. Measurements of the Hall coefficient R H as a function of temperature and in the normal state of our epitaxial films are presented and discussed. R H results negative for all the films regardless of the oxygen content and it decreases with the temperature. In particular, the Hall coefficient is only about 10% lower than the value measured in the as-grown oxygen-deficient phase, in contrast to the results reported in literature. The removal of the excess oxygen in as-grown samples seems not to be the only requirement for triggering the superconducting transition in electron-doped compounds. The microstructural change associated with the increase of the c-axis parameter in our deoxygenated samples could help in understanding the microscopic mechanism underlying the reduction process of n-type superconductors, which is still under debate.

ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.ResultsWe identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41–0.53), 0.41 (95% CI 0.32–0.49), and 0.53 (95% CI 0.45–0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49–1.97), 1.62 (95% CI 1.31–1.99), and 1.80 (95% CI 1.49–2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r2 = 0.79; p < 0.001).ConclusionsWe estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients’ genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.

Spin-triplet superconductors with time-reversal symmetry breaking can naturally lead to chiral domain walls in their interior. We study the magnetic properties emerging at the interface of chiral domains with opposite winding by focusing on the effects of a superconducting phase drop across the wall and an applied electric gating. The local inversion symmetry breaking at the domain wall drives mixed singlet-triplet pairing configurations that allow a phase- and electric-controllable magnetization with resulting parallel or antiparallel orientations on the two sides of the domain wall. The magnetic switching is also generally accompanied by both spin and charge currents flowing along the edges, whose amplitudes depend on the achieved parallel or antiparallel magnetic phase. The specific magnetoelectric properties of chiral domains with zero or nonvanishing net magnetization near the wall may have several implications. They can be employed to detect the presence of unconventional pairing as well as to design information storage units based on spin-polarized states attached to topological defects.

We present a systematic derivation of a minimal five-band tight-binding model for the description of the electronic structure of the recently discovered quasi one-dimensional superconductor K2Cr3As3. Taking as a reference the density-functional theory (DFT) calculation, we use the outcome of a Lowdin procedure to refine a Wannier projection and fully exploit the predominant weight at the Fermi level of the states having the same symmetry of the crystal structure. Such states are described in terms of five atomic-like d orbitals: four planar orbitals, two dxy and two dx2-y2, and a single out-of-plane one, dz2 . We show that this minimal model reproduces with great accuracy the DFT band structure in a broad energy window around the Fermi energy. Moreover, we derive an explicit simplified analytical expression of such model, which includes three nearest-neighbor hopping terms along the z direction and one nearest-neighbor term within the xy plane. This model captures very efficiently the energy spectrum of the system and, consequently, can be used to study transport properties, superconductivity and dynamical effects in this novel class of superconductors., 12 pages, 16 figures

We present the exact solution of a two-orbital Hubbard model on a two-site molecule for arbitrary electron filling and arbitrary interaction couplings. The knowledge of the many-particle spectrum, determined via a diagonalization procedure performed by fully taking into account the symmetry properties of the model, has been used to investigate the temperature dependence of charge, spin and orbital response functions as well as of the intra- and inter-orbital on-site occupations. We point out that this study may allow easy access to many interesting features of the model and may serve as a reference tool for various numerical or perturbation methods dealing with complex correlated electron models defined on a lattice, in particular in the case in which strong local interactions dominate over kinetic effects.

To prove that spin-orbit coupling can play a relevant role in determining the magnetic structure of transition metal oxides with tetrahedral coordination, we investigate the d 1 Mott insulator KOsO 4 , combining density functional theory calculations and the exact diagonalization approach. We find that the interplay between crystal field, strong spin-orbit coupling, electronic correlations and structural distortions brings the system towards an antiferromagnetic phase, characterized by a non-vanishing orbital angular momentum and anisotropy among the in-plane and the out-of-plane antiferromagnetic correlations. We also show that, due to the peculiar interplay between spin-orbit coupling, Hund's coupling and hopping connectivity the system is on the verge of developing short range ferromagnetic correlations marked by strong directionality.

Alpha-dystroglycanopathies are a group of progressive and untreatable neuromuscular disorders, due to aberrant alpha-dystroglycan glycosylation. We describe the effects of a short-term cycle of corticosteroid therapy in a 9-year-old boy, affected by an alpha-dystroglycanopathy due to GMPPB gene mutations. The patient was affected by a congenital progressive muscular dystrophy since the first month of life, associated with psychomotor delay, seizures, and congenital bilateral cataracts. Despite physical therapy he had a progressive motor impairment. At the age of 9 years, he was treated with 0.75 mg/kg/day of prednisone for 3 months and showed improvements in muscle strength and function scores and creatine kinase reduction. When steroid therapy was discontinued he showed again clinical and biochemical deterioration. These data suggest that corticosteroid may be considered as a treatment for patients with alpha-dystroglycanopathies due to GMPPB mutations. (C) 2018 Elsevier B.V. All rights reserved.

We study the formation and control of magnetization and currents at the interface of heterostructures based on chiral spin-triplet and spin-singlet superconductors. The inversion symmetry breaking at the interface can drive the formation of magnetic edge states that are dependent on the spin-triplet order parameter, the interface potential, and the phase mismatch across the junction. We investigate the direct consequences of the emergent magnetic effects and in particular the potential to control the conversion of charge- into spin-currents and vice versa, as they flow along the edge and transverse to the Josephson current, thus indicating the possibility of non-dissipative superconducting spin-Hall like effects. We envision the potential to design a coherent switching of the interface magnetization through Josephson currents. Such physical platform can be employed for achieving superconducting memories by functionalizing a magnetic degree of freedom that is generated by interfacing spin-triplet and spin-singlet superconductors.

Multi-orbital models with strong Coulomb correlations represent a fundamental tool for the analysis of transition metal oxides, which exhibit physical properties strongly affected by the orbital degrees of freedom. In this context, specific relations between the local coupling constants must be imposed in order to preserve spin and charge rotational invariance. We present here an alternative route for the derivation of these relations, based on the use of a complete set of commuting operators which includes the pseudospin orbital operator and thus is particularly suited for the study of systems where phenomena of orbital ordering are known to play a major role. This approach is expected to be useful in investigations of multi-orbital Hubbard models analyzed within the framework of the dynamical mean field theory or in exact diagonalization studies on finite-size clusters.

Rhabdomyolysis may result from various factors, namely trauma, exercise, medications, infections, endocrine disorders, congenital myopathies, and metabolic diseases.1 Among the latter, mitochondrial fatty acid β-oxidation (FAO) defects frequently cause recurrent rhabdomyolysis. FAO disorders are recessively inherited and have a combined incidence of 1:9,300, estimated after implementation of newborn screening programs by tandem mass spectrometry (MS/MS).2 Clinical manifestations of these disorders range from sudden infant death to Reye-like syndrome, nonketotic hypoglycemia, skeletal myopathy, peripheral neuropathy, and progressive cardiomyopathy. Here, we describe an 18-month-old child presenting with episodes of recurrent rhabdomyolysis related to mitochondrial trifunctional protein deficiency (MTPD), without additional manifestations of FAO defects. We discuss the diagnosis of MTPD and review the prognosis and treatments. The authors thank Jean Ann Gilder, Scientific Communication srl, for editing the text and Vittorio Lucignano, CEINGE–Biotecnologie Avanzate, for technical assistance.

Chiral and helical domain walls are generic defects of topological spin-triplet superconductors. We study theoretically the magnetic and transport properties of superconducting singlet-triplet-singlet heterostructure as a function of the phase difference between the singlet leads in the presence of chiral and helical domains inside the spin-triplet region. The local inversion symmetry breaking at the singlet-triplet interface allows the emergence of a static phase-controlled magnetization, and generally yields both spin and charge currents flowing along the edges. The parity of the domain wall number affects the relative orientation of the interface moments and currents, while in some cases the domain walls themselves contribute to spin and charge transport. We demonstrate that singlet-triplet heterostructures are a generic prototype to generate and control non-dissipative spin and charge effects, putting them in a broader class of systems exhibiting spin-Hall, anomalous Hall effects and similar phenomena. Features of the electron transport and magnetic effects at the interfaces can be employed to assess the presence of domains in chiral/helical superconductors., Comment: 10 pages, 5 figures, to be published in Physical Review B (2017)

We evaluated whether perfusion brain abnormalities by single-photon emission computed tomography (SPECT) imaging improves diagnostic and prognostic assessment in Sydenham chorea. Twenty-three children with acute autoimmune chorea underwent technetium-99m hexamethylpropyleneamine oxime brain SPECT imaging. In 16 children, SPECT was repeated during the follow-up. A pattern of basal ganglia hyperperfusion was observed in 20 (87%) patients. In 4 of 10 patients with generalized chorea, perfusion was comparable in right and left striatum and right and left thalamus. In 13 patients with hemi-chorea and in 3 with generalized chorea, unilateral hyperperfusion was detected. Three patients with generalized chorea had normal perfusion. Tracer uptake of basal ganglia of the patients at the acute phase was higher than at the follow-up ( P < .001). SPECT seems a useful noninvasive tool in pediatric patients with Sydenham chorea to support the clinicians during the acute phase of disease and to monitor the course of autoimmune chorea.

We present here a study on the influence of the oxygen reduction process on the structural and transport properties of epitaxial thin films of the electron-doped cuprate Nd2 − xCexCuO4 ± δ. As is well known, the gradual removal from as-grown samples of a tiny percentage of excess oxygen ions leads to a drastic improvement of the metallic character of this system, which eventually becomes superconducting for suitable values of the cerium concentration, with a maximal critical temperature Tc ≃ 25 K. We find that the oxygen loss occurring in thermal treatments in the temperature range 500–850 °C leads to a reduction of the disorder hindering conductance processes, but is insufficient to make the system become superconducting. On the other hand, as soon as the annealing temperature is raised above 850 °C, superconductivity appears, and at the same time a systematic variation of the length of the unit cell along the c-axis direction is detected. This is a clear indication that the transition to the superconducting phase is always accompanied by a structural modification. A further salient feature characterizing samples annealed at high temperatures is the emergence of a linear contribution in the normal-state resistivity, which superimposes to the quadratic one already present in samples which are oxygen-reduced below 850 °C. This contribution is probably associated with the formation of hole-like carriers located at hole pockets developing at the Fermi energy along the nodal direction in the Brillouin zone. We conjecture that the evolution of the electronic states with oxygen removal for a given cerium concentration close to optimal doping, is similar to the one taking place in optimally annealed samples where cerium concentration is raised from the underdoped to the lightly overdoped regime value.

We report on a child with a de novo deletion of approximately 12 Mb detected through array comparative genomic hybridization (CGH). The deletion involved chromosome bands 13q12.3 to 13q14.11 and determined the loss of ≥ 50 genes. A second deletion on chromosome 12p11.3p11.22 of 43-167 kb, including about 12 genes, was unlikely of clinical relevance because inherited from the asymptomatic father. The child had developmental delay, dysmorphisms and many features reminiscent of ataxia-telangiectasia (A-T), as cerebellar ataxia, oculocutaneus telangiectasia and recurrent upper airway infections. Atraumatic fractures of the metatarsus were noted. Moreover, this is a rare case of 13q deletion syndrome associated with peripheral blood white cells radiosensitivity to bleomycin, reminiscent of what previously reported on X-ray hypersensitivity of fibroblasts from patients with alterations of this chromosome. The immunological evaluation revealed increased IgM serum levels and a low proliferative response to mitogens, PHA and CD3 cross-linking (CD3 XL). After 12 years of age only a mild dysmetria persisted, while the proliferative response to mitogens became normal by 9 years of age.

We study the tight-binding dispersion of the recently discovered superconductor K2Cr3As3, obtained from Wannier projection of Density Functional Theory (DFT) results. In order to establish quantitatively the actual degree of quasi-one dimensionality of this compound, we analyze the electronic band structure for two reduced sets of hopping parameters: one restricted to the Cr-As tubes and another one retaining a minimal number of in-plane hoppings. The corresponding total and local density of states of the compound are also computed with the aim of assessing the tight-binding results with respect to the DFT ones. We find a quite good agreement with the DFT results for the more extended set of hopping parameters, especially for what concerns the orbitals that dominate at the Fermi level. Accordingly, we conclude that one cannot avoid taking into account in-plane hoppings up to the next-nearest-neighbors cells even only to describe correctly the Fermi surface cuts and the populations along the kz direction. Such a choice of a minimal number of hopping parameters directly reflects in the possibility of correctly describing correlations and magnetic interactions., 4 pages, 4 figures, 2 tables

The transport properties of slightly overdoped Nd2−x Ce x CuO4−δ (NCCO) c-axis oriented thin films with x=0.17 have been investigated in the temperature range from 2.5 K to 300 K and in magnetic fields up to 6 T applied perpendicular to the CuO2 planes. The films have been grown by a dc sputtering technique in on-axis configuration. They have been optimized on (001)-oriented SrTiO3 substrates and successively annealed in pure Argon at 900 °C. Structural and compositional analyses were carried out by means of X-ray diffraction and scanning electron microscopy equipped with a wavelength dispersive spectroscopy detector. Current-voltage characteristics of the NCCO films have been measured and the temperature and the magnetic field dependence of the critical current density J c(T,H) has been obtained. Finally, an increase of the low-temperature normal state resistance with the field has also been observed.

The present work focuses on the sintering of the Nd1.85Ce0.15CuO4 phase in the form of sputtering targets. The method of manufacture, based on a careful control of the microstructure, is of fundamental importance in ensuring the reliability of Nd1.85Ce0.15CuO4 targets and the subsequent realization of high-quality sputter-deposited thin films. In this study the Nd1.85Ce0.15CuO4 targets were prepared by a standard solid state reaction technique. We investigated the influence of the thermal treatment on the phase formation by employing X-ray diffraction (XRD) technique, scanning electron microscopy (SEM) and energy dispersion spectrometry (EDS) analyses. As the growth temperature increases beyond the eutectic point, the achievement of a liquid phase yields a homogeneous grain growth. The results presented here are expected to be of particular usefulness in tailoring the growth of high quality thin films. (C) 2008 Elsevier B.V. All rights reserved.

Children with cerebral palsy (CP) often demonstrate abnormal feeding behaviours, leading to reduced food consumption and malnutrition. Moreover, most of them present with gastrointestinal disorders, such as gastroesophageal reflux disease (GERD) and/or chronic constipation (CC), and poor motor function rehabilitation. The aim of our study was to assess the possible relationship between malnutrition and gastrointestinal problems and to evaluate the role of nutrition on their gross motor abilities in a population of children with CP and mental retardation.Twenty-one consecutive children (10 boys; mean age: 5.8+/-4.7 years; range: 1-14 years) with CP and severe mental retardation.Nutritional assessment included the measurement of body mass index (BMI=W/H2), fat body mass (FBM) and fat free mass (FFM). Children with symptoms suggesting GERD underwent prolonged 24h intraesophageal pH monitoring and/or upper GI endoscopy with biopsies before and after a 6 months of pharmaceutical (omeprazole) and nutritional (20% increment of daily caloric intake) treatments. The motor function was evaluated by "The Gross Motor Function Measure" (GMFM) before and after the 6 months on nutritional rehabilitation.BMI for age wasor=5 degrees percentile in 11 children (52%) and FBM wasor=80% of ideal value for height in 15 (71%). GERD was present in 14 children (67%), 9 of them were affected by both GERD and CC. Among children with FBMor= 80%, GERD was present in 11 (73%) and CC in 9 (60%). Considering the group of patients with BMIor= 5 degrees percentile, 9 out of 11 children had GERD (82%) and 7 had CC (64%). Fourteen malnourished children (FBMor= 80%) completed the 6 months nutritional trial. Their starting and final means+/-SD BMI were 13.56+/-1.31 and 14.15+/-1.85 (p=0.08), respectively. GMFM values were significantly (p0.05) improved in 9/14 pts (Group A), while it remained unchanged in 5/14 pts (Group B). Nine children with GERD and malnutrition completed the 6 months of pharmaceutical and nutritional treatments. Their initial mean+/-SD weight was 10.1+/-2.9 kg, whereas the final mean+/-SD weight was 12.7+/-4 kg (p0.05). A marked improvement of GERD was noted in four of nine (44.4%) children. Despite successful nutritional rehabilitation with a BMI achievement ofor=25 degrees percentile, five of nine (55.5%) patients had persistent GERD when they were taken off the medication.Malnutrition and gastrointestinal disorders are very common in children with cerebral palsy. Improved nutritional status, particularly fat free mass gain, appears to have an impact on motor function in children with CP.

We analyze the magnetization at the interface between singlet and triplet superconductors and show that its direction and dependence on the phase difference across the junction are strongly tied to the structure of the triplet order parameter as well as to the pairing interactions. We consider equal spin helical, opposite spin chiral, and mixed symmetry pairing on the triplet side and show that the magnetization vanishes at $\phi=0$ only in the first case, follows approximately a $\cos\phi$ behavior for the second, and shows higher harmonics for the last configuration. We trace the origin of the magnetization to the magnetic structure of the Andreev bound states near the interface, and provide a symmetry-based explanation of the results. Our findings can be used to control the magnetization in superconducting heterostructures and to test symmetries of spin-triplet superconductors., Comment: 5 pages, 3 figures

The aim of this study was to assess whether parent-implemented developmental training—by means of the Carolina Curriculum for Infants and Toddlers with Special Needs (CCITSN)—could be of greater benefit to young children with Down syndrome (DS) than the standard therapist-implemented treatment provided by the National Health Service of the southern Italian region of Campania (NHST). A total of 47 children with DS were randomly assigned either to the experimental (CCITSN) or to the comparison (NHST) group. Children from both groups were tested periodically with the Brunet-Lezine Psychomotor Development Scale. After completion of the 12-month followup, children in the CCITSN group showed developmental gains over time while children in the comparison group showed a slight but not statistically significant improvement. Moreover, mean developmental quotient scores of the CCITSN group, over the entire study period, were significantly higher than those of the comparison group. A commitment to using parents as interventionists is not a common practice in Italy and many other countries, but may be the most effective and cost-efficient way of providing services to young children with DS and other developmental disabilities.

OBJECTIVE: To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI). STUDY DESIGN: Nineteen patients (13 females and 6 males, aged 0.9-22.6 years) and 38 sex- and age-matched controls entered the study. Neurological examinations, psychometric tests (IQ, tests of performance and verbal abilities), standard electroencephalogram (EEG), somatosensory (SEPs), visual (VEPs), and brain-stem auditory evoked potentials (BAEPs), and brain magnetic resonance imaging (MRI) were performed. RESULTS: The results of tests of performance ability were lower in patients than in controls (P

The behavior of the superconducting transition temperature T c in layered systems made of niobium and highly paramagnetic palladium has been studied as a function of the layer thicknesses. The results have been analysed in the framework of the proximity effect theory, in order to determine the interface transparency T .

The analysis of the pseudogap phase in high-T c superconductors is often performed in terms of scenarios where itinerant electrons are coupled to bosonic excitations. Within this context, we have investigated the static properties of the boson-fermion model on a ring of finite size length by means of the thermal Lanczos method. As a result, we have determined the temperature dependence of the specific heat and the static susceptibility for different values of the exchange coupling associated to processes in which bosons decey into pairs of itinerant electrons, and vice-versa. The nature and the scale of energies of the relevant excitations which control the temperature behaviour of these thermodynamic quantities are also discussed.

We analyze the superconducting phase which can develop in a system of itinerant electrons interacting with self-trapped lattice bipolarons, in turn coupled to purely local vibrational modes. Starting from a standard mean-field decoupling of the boson-fermion exchange term describing processes in which a bipolaron decays into a pair of free electrons and vice-versa, we analyze some features of the superconducting phase stemming from the simultaneous condensation of electrons and bipolarons, with a specific attention to the dependence of the amplitude of the order parameters on the carrier densities and on the boson-phonon coupling.

We perform a finite-size cluster study of the Kondo-Heisenberg model, describing a system of itinerant electrons locally coupled via a Kondo-type interaction to a set of magnetic ions. The ionic moments are assumed to have antiferromagnetic order, due to a nearest-neighbor Heisenberg coupling. By consecutive application of displacement and squeezing transformations, a spin polaron effective Hamiltonian is derived, which is exactly solved on a 8-site closed ring. By analyzing the behavior of suitably defined correlation functions in the variationally optimized ground state, special attention is devoted to the conditions under which a superconducting phase coexisting with spin order can be established.

Background Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months. Methods Based on the age at onset of neurological manifestations patients’ phenotypes were classified as: adult (n = 6), juvenile (n = 9), late infantile (n = 6), early infantile (n = 2). Two patients had an exclusively visceral phenotype. We clinically evaluated patients’ neurological involvement, giving a score of severity ranging from 0 (best) to 3 (worst) for gait abnormalities, dystonia, dysmetria, dysarthria, and developmental delay/cognitive impairment, and from 0 to 4 for dysphagia. We calculated a mean composite severity score transforming the original scores proportionally to range from 0 to 1 to summarize the clinical picture of patients and monitor their clinical course. Results We compared the results after 24 months of treatment in 23 patients showing neurological manifestations. Stabilization or improvement of all parameters was observed in the majority of patients. With the exception of developmental delay/cognitive impairment, these results persisted after 48–96 months in 41 – 55% of the patients (dystonia: 55%, dysarthria: 50%, gait abnormalities: 43%, dysmetria: 41%, respectively). After 24 months of therapy the majority of the evaluable patients (n = 20), demonstrated a stabilization or improvement in the ability to swallow four substances of different consistency (water: 65%, purée: 58%, little pasta: 60%, biscuit: 55%). These results persisted after 48–96 months in 40-50% of patients, with the exception of water swallowing. Stabilization or improvement of the composite severity score was detected in the majority (57%) of 7 patients who were treated early (within 3.5 years from onset) and rarely in patients who received treatment later. Conclusions The results of this study suggest that miglustat treatment can improve or stabilize neurological manifestations, at least for a period of time; the severity of clinical conditions at the beginning of treatment can influence the rate of disease progression. This conclusion applies particularly to patients with juvenile or adult onset of the disease. Trial registration EudraCT number 2006-005842-35 Electronic supplementary material The online version of this article (doi:10.1186/s13023-015-0240-y) contains supplementary material, which is available to authorized users.

We analyze the possible occurrence of ferromagnetism in the Anderson lattice model, generalized with the inclusion of the so-called Falicov-Kimball term, describing the on-site Coulomb repulsion between localized and itinerant electrons. We discuss the conditions under which a ferromagnetic ground state is established in one dimension when the number of electrons exceeds by one the number of sites. In particular, we show that the critical value of the localized electron site energy at which the magnetic transition occurs is considerably affected by the Falicov-Kimball interaction, as a consequence of the modification of the electron occupancies in the ground state.