Measurement of the nonlinear parametric instability gain in dispersion oscillating fibers.

We report the observation of the parametric gain band distortion in the nonlinear (depleted) regime of modulation instability in dispersion oscillating fibers. We show that the maximum gain is shifted even outside the boundaries of the linear parametric gain band. Experimental observations are confirmed by numerical simulations.

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases.

Telemedicine provides healthcare services remotely and represents a fundamental resource for the management of rare and fragile patients. Tele-health implementation is a main objective of the European Reference Networks (ERNs) mission to accelerate diagnosis for rare diseases. TeleNewCARe is a pilot case-control project which evaluates the efficacy and satisfaction of telegenetics for neuromuscular and cardiac adult patients, compared to face-to-face genetic counselling.

Academic achievement and needs of school-aged children born with selected congenital anomalies: A systematic review and meta-analysis.

Children with congenital anomalies have poorer intellectual and cognitive development compared to their peers, but evidence for academic achievement using objective measures is lacking. We aimed to summarize and synthesize evidence on academic outcomes and special education needs (SEN) of school-aged children born with selected major structural congenital anomalies. Electronic databases (MEDLINE, EMBASE, Scopus, PsycINFO, CINAHL, ProQuest Natural Science and Education Collections), reference lists and citations for 1990-2020 were systematically searched.

Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the Mouse Model and Patients.

Duchenne muscular dystrophy (DMD) is a rare genetic disease due to dystrophin gene mutations which cause progressive weakness and muscle wasting. Circadian rhythm coordinates biological processes with the 24-h cycle and it plays a key role in maintaining muscle functions, both in animal models and in humans. We explored expression profiles of circadian circuit master genes both in Duchenne muscular dystrophy skeletal muscle and in its animal model, the mdx mouse.

Functional Characterization of Two Novel Mutations in Associated with Brugada Syndrome Identified in Italian Patients.

Background: Brugada syndrome (BrS) is an autosomal dominantly inherited cardiac disease characterized by "coved type" ST-segment elevation in the right precordial leads, high susceptibility to ventricular arrhythmia and a family history of sudden cardiac death. The gene, encoding for the cardiac voltage-gated sodium channel Nav1.5, accounts for ~20-30% of BrS cases and is considered clinically relevant.

Stabilization of Unsteady Nonlinear Waves by Phase-Space Manipulation.

We introduce a dynamic stabilization scheme universally applicable to unidirectional nonlinear coherent waves. By abruptly changing the waveguiding properties, the breathing of wave packets subject to modulation instability can be stabilized as a result of the abrupt expansion a homoclinic orbit and its fall into an elliptic fixed point (center). We apply this concept to the nonlinear Schrödinger equation framework and show that an Akhmediev breather envelope, which is at the core of Fermi-Pasta-Ulam-Tsingou recurrence and extreme wave events, can be frozen into a steady periodic (dnoidal) wave by a suitable variation of a single external physical parameter.

Separatrix crossing and symmetry breaking in NLSE-like systems due to forcing and damping.

We theoretically and experimentally examine the effect of forcing and damping on systems that can be described by the nonlinear Schrödinger equation (NLSE), by making use of the phase-space predictions of the three-wave truncation. In the latter, the spectrum is truncated to only the fundamental frequency and the upper and lower sidebands. Our experiments are performed on deep water waves, which are better described by the higher-order NLSE, the Dysthe equation.

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies.

Background: Following a reduction in global child mortality due to communicable diseases, the relative contribution of congenital anomalies to child mortality is increasing. Although infant survival of children born with congenital anomalies has improved for many anomaly types in recent decades, there is less evidence on survival beyond infancy. We aimed to systematically review, summarise, and quantify the existing population-based data on long-term survival of individuals born with specific major congenital anomalies and examine the factors associated with survival.

Hypospadias prevalence in the Emilia Romagna Region registry: Increasing or methodology?

Introduction: Hypospadias is one of the most common congenital anomalies in male infants, defined as incomplete development of the urethra. Despite the wealth of literature, there are conflicting data on the values and trends of prevalence, due to multifactorial origin but often also to methodological differences between studies. The aim of this study was to analyse prevalence, trends and risk factors of hypospadias in the Emilia Romagna Region, Italy.

Single-spectrum prediction of kurtosis of water waves in a nonconservative model.

We study statistical properties after a sudden episode of wind for water waves propagating in one direction. A wave with random initial conditions is propagated using a forced-damped higher-order nonlinear Schrödinger equation. During the wind episode, the wave action increases, the spectrum broadens, the spectral mean shifts up, and the Benjamin-Feir index (BFI) and the kurtosis increase.

Recurrence in the high-order nonlinear Schrödinger equation: A low-dimensional analysis.

We study a three-wave truncation of the high-order nonlinear Schrödinger equation for deep-water waves (also named Dysthe equation). We validate the model by comparing it to numerical simulation; we distinguish the impact of the different fourth-order terms and classify the solutions according to their topology. This allows us to properly define the temporary spectral upshift occurring in the nonlinear stage of Benjamin-Feir instability and provides a tool for studying further generalizations of this model.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

The dystrophin gene (DMD) is the largest gene in the human genome, mapping on the Xp21 chromosome locus. It spans 2.2Mb and accounts for approximately 0,1% of the entire human genome.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported.

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

A ready source of autologous myogenic cells is of vital importance for drug screening and functional genetic studies in Duchenne muscular dystrophy (DMD), a rare disease caused by a variety of dystrophin gene mutations. As stem cells (SCs) can be easily and noninvasively obtained from urine specimens, we set out to determine whether they could be myogenically induced and useful in DMD research. To this end, we isolated stem cells from the urine of two healthy donors and from one patient with DMD, and performed surface marker characterization, myogenic differentiation (MyoD), and then transfection with antisense oligoribonucleotides to test for exon skipping and protein restoration.

Heteroclinic Structure of Parametric Resonance in the Nonlinear Schrödinger Equation.

We show that the nonlinear stage of modulational instability induced by parametric driving in the defocusing nonlinear Schrödinger equation can be accurately described by combining mode truncation and averaging methods, valid in the strong driving regime. The resulting integrable oscillator reveals a complex hidden heteroclinic structure of the instability. A remarkable consequence, validated by the numerical integration of the original model, is the existence of breather solutions separating different Fermi-Pasta-Ulam recurrent regimes.

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.

Collagen VI myopathies are genetic disorders caused by mutations in collagen 6 A1, A2 and A3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem myopathy, which is recapitulated by collagen-VI-null (Col6a1(-/-)) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, but the link between collagen VI defects and these metabolic circuits remains unknown. To unravel the expression profiling perturbation in muscles with collagen VI myopathies, we performed a deep RNA profiling in both Col6a1(-/-)mice and patients with collagen VI pathology.

Stable integrated hyper-parametric oscillator based on coupled optical microcavities.

We propose a flexible scheme based on three coupled optical microcavities that permits us to achieve stable oscillations in the microwave range, the frequency of which depends only on the cavity coupling rates. We find that the different dynamical regimes (soft and hard excitation) affect the oscillation intensity, but not their periods. This configuration may permit us to implement compact hyper-parametric sources on an integrated optical circuit with interesting applications in communications, sensing, and metrology.

Strong Raman-induced noninstantaneous soliton interactions in gas-filled photonic crystal fibers.

We have developed an analytical model based on the perturbation theory to study the optical propagation of two successive solitons in hollow-core photonic crystal fibers filled with Raman-active gases. Based on the time delay between the two solitons, we have found that the trailing soliton dynamics can experience unusual nonlinear phenomena, such as spectral and temporal soliton oscillations and transport toward the leading soliton. The overall dynamics can lead to a spatiotemporal modulation of the refractive index with a uniform temporal period and a uniform or chirped spatial period.

Paternal germline mosaicism in collagen VI related myopathies.

Background: Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. The severe Ullrich congenital muscular dystrophy (UCMD) can be due to autosomal recessive mutations in one of the three genes with a related 25% recurrence risk. In the majority of UCMD cases nevertheless, the underlying mutation is thought to arise de novo and the recurrence risk is considered as low.

Raman-induced temporal condensed matter physics in gas-filled photonic crystal fibers.

Raman effect in gases can generate an extremely long-living wave of coherence that can lead to the establishment of an almost perfect temporal periodic variation of the medium refractive index. We show theoretically and numerically that the equations, regulate the pulse propagation in hollow-core photonic crystal fibers filled by Raman-active gas, are exactly identical to a classical problem in quantum condensed matter physics - but with the role of space and time reversed - namely an electron in a periodic potential subject to a constant electric field. We are therefore able to infer the existence of Wannier-Stark ladders, Bloch oscillations, and Zener tunneling, phenomena that are normally associated with condensed matter physics, using purely optical means.

Contribution of third-harmonic and negative-frequency polarization fields to self-phase modulation in nonlinear media.

We study the influence of third-harmonic generation (THG) and negative-frequency polarization terms in the self-phase modulation (SPM) of short and intense pulses in Kerr media. We find that THG induces additional symmetric lobes in the SPM process. The amplitude of these new sidebands are greatly enhanced by the contributions of the negative-frequency Kerr (NFK) term and the shock operator.