Unleashing the Potential of Defect Engineered Persistent Pr-Activated Phosphors for Multi-Dimensional Anti-Counterfeiting and X-Ray Imaging Applications.

Persistent luminescence (PersL) in inorganic phosphors offers great potential for anti-counterfeiting and optical storage, with optimization of PersL, multicolor tuning, and defect engineering. This study presents a CaGaGeOPr (CGGO:Pr) phosphor with long-lasting PersL and multicolor emissions. Aliovalent codoping with Er and Yb ions optimizes deep/shallow trap redistribution, controlling trap depths from 0.

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.

Introduction/aims: Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis-like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies. We report two unrelated individuals with monoallelic stop loss variants affecting the same codon of HNRNPA1.

Effects of HMGCR deficiency on skeletal muscle development.

Pathogenic variants in were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.

Coupling of the Structure and Magnetism to Spin Splitting in Hybrid Organic-Inorganic Perovskites.

Hybrid organic-inorganic perovskites are famous for the diversity of their chemical compositions, phases, phase transitions, and associated physical properties. We use a combination of experimental and computational techniques to reveal a strong coupling between structure, magnetism, and spin splitting in a representative of the largest family of hybrid organic-inorganic perovskites: the formates. With the help of first-principles simulations, we find spin splitting in both conduction and valence bands of [NHNH]Co(HCOO) induced by spin-orbit interactions, which can reach up to 14 meV.

Single-institution Series of Hirayama Disease in North America.

Study Design: A retrospective chart review.

Objective: The aims of this study were to review pathophysiology, workup, and treatment for Hirayama disease (HD); and to assess outcomes from a single institution.

Summary Of Background Data: HD is a rare, painless, cervical myelopathy with distal upper extremity weakness, muscle wasting, and spinal cord atrophy.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin-glycoprotein complex (DGC) that binds to dystrophin/utrophin and α-syntrophin. Mice lacking α-dystrobrevin have a muscular dystrophy phenotype, but variants in DTNA have not previously been associated with human skeletal muscle disease. We present 12 individuals from four unrelated families with two different monoallelic DTNA variants affecting the coiled-coil domain of α-dystrobrevin.

Progressive developments and challenges in dissimilar laser welding of steel to various other light alloys (Al/Ti/Mg): A comprehensive review.

In recent days, the utilization of lightweight alloys for various applications has been increased massively. Starting from the automobile industry, aerospace industry, and even in the biomedical field, there is a need for dissimilar precise joining of steel to other light alloys (magnesium alloy, aluminum alloy, titanium alloy). However, those alloys are characterized by different melting temperatures, machinability, strength, thermal conductivity, and oxygen reactivity.

Negative Longitudinal Piezoelectricity Coexisting with both Negative and Positive Transverse Piezoelectricity in a Hybrid Formate Perovskite.

Negative longitudinal piezoelectric response is a rare property, which has been found mostly in inorganic materials. We use first-principles density functional theory simulations to predict such an unusual response in [NHNH]Co(HCOO) ─a representative of a large family of hybrid organic-inorganic formate perovskites. A feature that sets aside [NHNH]Co(HCOO) from inorganic compounds with a negative longitudinal piezoelectric response is that this rare property coexists with both negative and positive transverse piezoelectric responses, which is highly desirable for tunable applications.

Upper motor neuron signs and early onset gait abnormalities in young children with bi-allelic VWA1 variants.

Bi-allelic loss-of-function variants in Von Willebrand factor type A (VWA1) were recently discovered to lead to an early onset motor neuropathy or neuromyopathy. What makes this discovery particularly notable is the high frequency of one of the VWA1 (NM_022834.5) founder variants, c.

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.

Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular dystrophy but lacked complete genetic diagnoses and one had an asymptomatic DMD duplication.

Electromyography in infants: experience from a pediatric neuromuscular center.

Electromyography plays a pivotal role in diagnosing neuromuscular disorders. The purpose of this study was to investigate the role of electromyography in infants. We performed a retrospective study of the infants who underwent electromyography from 2003 to 2017 and recorded demographic profile, indication, electrodiagnostic findings, and final diagnosis from the follow-up data.

Developing outcome measures of disease activity in pediatric myasthenia.

Introduction: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS), which are chronic disorders with fluctuating symptoms amenable to medical therapy. Disease activity and treatment response may be difficult to assess, but, unlike adults, outcome measures have not been developed in children.

Methods: The study was performed in children (0-18 years of age) at the neuromuscular center of a pediatric hospital over a 3-year period.

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.

Background: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therapies.

Methods: We identified 18 patients with congenital myasthenic syndrome from a pediatric neuromuscular center over a decade.

Simultaneous tuning of optical and electrical properties in a multifunctional LiNbO matrix upon doping with Eu ions.

Combined photoluminescence (PL) and dielectric studies have been carried out on both undoped and Eu doped LiNbO compounds for their potential application in optical-electrical integration for the first time. Special focus has been given to simultaneously tuning both these physical properties. A PL study reveals that the blank compound is a blue emitting material, while upon doping with Eu ions, the emitting color can be tuned from blue to red upon changing the excitation wavelength.