Localized Nanoscale Formation of Vanadyl Porphyrin 2D MOF Nanosheets and Their Optimal Coupling to Lumped Element Superconducting Resonators.

A strategy toward the realization of a quantum spin processor involves the coupling of spin qubits and qudits to photons within superconducting resonators. To enable the realization of such hybrid architecture, here we first explore the design of a chip with multiple lumped-element LC superconducting resonators optimized for their coupling to distinct transitions of a vanadyl porphyrin electronuclear qudit. The controlled integration of the vanadyl qudit onto the superconducting device, both in terms of number and orientation, is then attained using the formation of nanosheets of a 2D framework built on the vanadyl qudit as a node.

Loss-of-function variants identified in autosomal recessive cherubism families.

Cherubism (OMIM 118400) is a rare craniofacial disorder in children characterized by destructive jawbone expansion due to the growth of inflammatory fibrous lesions. Our previous studies have shown that gain-of-function mutations in SH3 domain-binding protein 2 (SH3BP2) are responsible for cherubism and that a knock-in mouse model for cherubism recapitulates the features of cherubism, such as increased osteoclast formation and jawbone destruction. To date, is the only gene identified to be responsible for cherubism.

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS. Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade.

Dilute Gd hydroxycarbonate particles for localized spin qubit integration.

Molecular spins are considered as the quantum hardware to build hybrid quantum processors in which coupling to superconducting devices would provide the means to implement the necessary coherent manipulations. As an alternative to large magnetically-dilute crystals or concentrated nano-scale deposits of paramagnetic molecules that have been studied so far, the use of pre-formed sub-micronic spherical particles of a doped Gd@Y hydroxycarbonate is evaluated here. Particles with an adjustable number of spin carriers are prepared through the control of both particle size and doping.

Evaluation of triphenylene-based MOF ultrathin films for lithium batteries.

Metal-organic frameworks (MOFs) are attractive candidates to meet the requirement of next-generation batteries, as functional materials with a high surface area, well-defined metal centers, and organic linkers through coordination bonds. Due to their great tunability, MOFs have been investigated as electrodes or electrolytes in lithium batteries and more recently as protective layers in anode-less batteries. Here, we synthesize a Ni(HHTP) MOF directly at the air-liquid interface of a Langmuir trough and grow the electrode on a conductive substrate by the transference process.

Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.

Background: Neuro-muscular disorders constitutes a group of rare but heterogeneous conditions. The onset of these diseases ranges widely from birth to elderly. Many of them are life threatening and progressive.

Evidence of stock connectivity, hybridization, and misidentification in white anglerfish supports the need of a genetics-informed fisheries management framework.

Understanding population connectivity within a species as well as potential interactions with its close relatives is crucial to define management units and to derive efficient management actions. However, although genetics can reveal mismatches between biological and management units and other relevant but hidden information such as species misidentification or hybridization, the uptake of genetic methods by the fisheries management process is far from having been consolidated. Here, we have assessed the power of genetics to better understand the population connectivity of white () and its interaction with its sister species, the black anglerfish ().

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.

Duchenne muscular dystrophy (DMD) is an incurable disease caused by out-of-frame DMD gene deletions while in frame deletions lead to the milder Becker muscular dystrophy (BMD). In the last decade several antisense oligonucleotides drugs have been developed to induce a partially functional internally deleted dystrophin, similar to that produced in BMD, and expected to ameliorate the disease course. The pattern of dystrophin expression and functionality in dystrophinopathy patients is variable due to multiple factors, such as molecular functionality of the dystrophin and its distribution.

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with -Related Congenital Centronuclear Myopathy.

Congenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. -related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive disorders.

Broad-band spectroscopy of a vanadyl porphyrin: a model electronuclear spin qudit.

We explore how to encode more than a qubit in vanadyl porphyrin molecules hosting a = 1/2 electronic spin coupled to a = 7/2 nuclear spin. The spin Hamiltonian and its parameters, as well as the spin dynamics, have been determined a combination of electron paramagnetic resonance, heat capacity, magnetization and on-chip magnetic spectroscopy experiments performed on single crystals. We find low temperature spin coherence times of micro-seconds and spin relaxation times longer than a second.

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.

In skeletal muscle, long noncoding RNAs (lncRNAs) are involved in dystrophin protein stabilization but also in the regulation of myocytes proliferation and differentiation. Hence, they could represent promising therapeutic targets and/or biomarkers for Duchenne and Becker muscular dystrophy (DMD/BMD). DMD and BMD are X-linked myopathies characterized by a progressive muscular dystrophy with or without dilatative cardiomyopathy.

Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy.

The laminin α2 subunit is a protein encoded by the laminin α2 gene(LAMA2) which has the role of adhesion (attachment of cells to one another). Genetics consideration showed that mutation in LAMA2 caused a collection of muscle-wasting conditions called muscular dystrophy. This disorder causes disconnection of muscular cells and degeneration of the musculoskeletal system.

Anisotropic self-assemblies of magnetic nanoparticles: experimental evidence of low-field deviation from the linear response theory and empirical model.

The heating ability upon application of an alternating magnetic field of a system of monodisperse and non-interacting superparamagnetic nanoparticles is described by Rosensweig's model within the linear response limits. But in real applications, nanoparticle systems are rarely monodisperse or non-interacting, and predicting their heating ability is challenging, since it requires considering single-particle, inter-particle and collective effects. Herein we give experimental evidence of a collective effect that invalidates the linear response limits in self-assembled anisotropic arrangements.

Current management of Duchenne muscular dystrophy in the Middle East: expert report.

Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to address different aspects of the current management of DMD in the Middle East, north Africa (MENA) region, and to gather experts' recommendations on how to optimally diagnose and treat patients suffering from this disease. A group of experts (neuromuscular medicine, neuropediatricians and geneticists) convened to discuss the diagnosis and management of DMD in the MENA region.

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.

Objective: Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.

Introduction: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle.

Methods: Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.

Polymer Pen Lithography with Lipids for Large-Area Gradient Patterns.

Gradient patterns comprising bioactive compounds over comparably (in regard to a cell size) large areas are key for many applications in the biomedical sector, in particular, for cell screening assays, guidance, and migration experiments. Polymer pen lithography (PPL) as an inherent highly parallel and large area technique has a great potential to serve in the fabrication of such patterns. We present strategies for the printing of functional phospholipid patterns via PPL that provide tunable feature size and feature density gradients over surface areas of several square millimeters.

Switchable slow relaxation of magnetization in the native low temperature phase of a cooperative spin-crossover compound.

The implementation of single-molecule magnet properties in spin crossover materials is sought as a unique source of magnetic multistability at the molecular level. Examples however remain extremely scarce, in part due to the diamagnetic state of most Fe(ii) spin crossover materials at low temperatures. We have studied the complex [Fe(mtz)](CFSO) (mtz = 1-methyltetrazole) as a tantalizing candidate of such coexistence, due to its known partial spin crossover and therefore paramagnetic native low temperature phase.

Biomimetic Phospholipid Membrane Organization on Graphene and Graphene Oxide Surfaces: A Molecular Dynamics Simulation Study.

Supported phospholipid membrane patches stabilized on graphene surfaces have shown potential in sensor device functionalization, including biosensors and biocatalysis. Lipid dip-pen nanolithography (L-DPN) is a method useful in generating supported membrane structures that maintain lipid functionality, such as exhibiting specific interactions with protein molecules. Here, we have integrated L-DPN, atomic force microscopy, and coarse-grained molecular dynamics simulation methods to characterize the molecular properties of supported lipid membranes (SLMs) on graphene and graphene oxide supports.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Background: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported.

A diffusive ink transport model for lipid dip-pen nanolithography.

Despite diverse applications, phospholipid membrane stacks generated by dip-pen nanolithography (DPN) still lack a thorough and systematic characterization that elucidates the whole ink transport process from writing to surface spreading, with the aim of better controlling the resulting feature size and resolution. We report a quantitative analysis and modeling of the dependence of lipid DPN features (area, height and volume) on dwell time and relative humidity. The ink flow rate increases with humidity in agreement with meniscus size growth, determining the overall feature size.

[Data validity in a French diagnosis-related group information program].

Background: Long-term intratracheal ventilated patients need continuous artificial ventilation support. After the acute periods, these patients may benefit from dedicated follow-up in rehabilitation care centers. In this paper, we aimed to study the validity of the data provided by a French diagnosis-related group (DRG) information system.

Self-assembled trityl radical capsules--implications for dynamic nuclear polarization.

A new class of guest-induced, bi-radical self-assembled organic capsules is reported. They are formed by the inclusion of a tetramethylammonium (TMA) cation between two monomers of the stable trityl radical OX63. OX63 is extensively used in dissolution dynamic nuclear polarization (DNP) where it leads to NMR sensitivity enhancements of several orders of magnitude.

Origin of slow magnetic relaxation in Kramers ions with non-uniaxial anisotropy.

Transition metal ions with long-lived spin states represent minimum size magnetic bits. Magnetic memory has often been associated with the combination of high spin and strong uniaxial magnetic anisotropy. Yet, slow magnetic relaxation has also been observed in some Kramers ions with dominant easy-plane magnetic anisotropy, albeit only under an external magnetic field.