Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia.

Background: Intronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 ataxia). We aim to determine the prevalence of the GAA repeat expansion in FGF14 in Chinese populations presenting late-onset cerebellar ataxia (LOCA) and evaluate the characteristics of tandem repeat inheritance, radiological features and sympathetic nerve involvement.

Methods: GAA-FGF14 repeat expansion was screened in an undiagnosed LOCA cohort (n = 664) and variations in repeat-length were analyzed in families of confirmed GAA-FGF14 ataxia patients.

Mechanism of NCNTs Growth on Foamed Nickel and Thus-Prepared PS Hydrogenation High-Performance Carrier NCNTs@FN.

Traditional heterogeneous catalysts are affected in the catalytic hydrogenation of PS by the scale effect, viscosity effect, adhesion effect, and conformational effect, resulting in poor activity and stability. Monolithic Pd-CNTs@FN catalysts could eliminate or weaken the impact of these negative effects. We grew nitrogen-doped carbon nanotubes (NCNTs) on monolithic-foamed nickel (FN) and investigate their growth mechanism.

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.

Objective: Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT. Here, we describe causal missense mutations in the gene encoding seryl-tRNA synthetase 1 (SerRS) for 3 families affected with CMT.

GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.

Objective: Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease characterized by progressive ptosis, dysarthria, ophthalmoplegia, and distal muscle weakness. Recent studies revealed that GGC repeat expansions in 5'-UTR of LRP12, GIPC1, and NOTCH2NLC are associated with OPDM. Despite these advances, approximately 30% of OPDM patients remain genetically undiagnosed.

Neural Correlation between Evoked Tactile Sensation and Central Activities in the Somatosensory Cortex.

Evoked tactile sensation (ETS) is induced with stimulation of areas in the projected finger map (PFM) in the stump skin of forearm amputees. The aim of the present study is to further explore the neural correlation of the ETS with central activities in the somatosensory cortex (SI). Two forearm amputees were recruited to participate in this study.

Thermal activation of serpentine for adsorption of cadmium.

Thermal activated serpentine with high adsorption capacity for heavy metals was prepared. The batch experiment studies were conducted to evaluate the adsorption performance of Cd in aqueous solution using thermal activated serpentine as adsorbent. These samples before and after adsorption were characterized by XRD, FT-IR, SEM, XPS, and N adsorption-desorption at low temperature.

Modulations on cortical oscillations by subthalamic deep brain stimulation in patients with Parkinson disease: A MEG study.

Objective: The study aimed to explore the modification to cortical oscillations of Parkinson disease (PD) patients by subthalamic nucleus deep brain stimulation (STN DBS).

Methods: With Magnetoencephalogram (MEG) detection, we examined the changes in absolute power spectrum of cortical oscillations in the PD patients with the treatment of STN DBS.

Results: The power analysis of PD patients showed a dominant over-synchronization of alpha and beta bands in temporal and occipital areas relative to the healthy control subjects.

In situ plasmonic Ag nanoparticle anchored TiO2 nanotube arrays as visible-light-driven photocatalysts for enhanced water splitting.

An ultrasonication-assisted in situ deposition strategy was utilised to uniformly decorate plasmonic Ag nanoparticles on vertically aligned TiO2 nanotube arrays (NTAs) to construct a Ag@TiO2 NTA composite. The Ag nanoparticles act as efficient surface plasmon resonance (SPR) photosensitizers to drive photocatalytic water splitting under visible light irradiation. The Ag nanoparticles were uniformly deposited on the surface and inside the highly oriented TiO2 nanotubes.

Ubiquitin-protein ligase E3C promotes glioma progression by mediating the ubiquitination and degrading of Annexin A7.

The ubiquitin-protein ligase E3C (UBE3C) belongs to the E3 ligase enzyme family and implicates in the ubiquitin-proteasome pathway, thus regulates physiological and cancer-related processes. Here, we investigated the expression and roles of UBE3C in glioma. We demonstrated that UBE3C was overexpressed in glioma tissues and cell lines.

Controlled intracellular self-assembly of gadolinium nanoparticles as smart molecular MR contrast agents.

Herein we developed a new "smart" Gd-based MR contrast agent (i.e., 1) which is susceptive to furin, a protease overexpressed in tumor.

Exogenous oxytocin reverses the decrease of colonic smooth muscle contraction in antenatal maternal hypoxia mice via ganglia.

Oxytocin (OT) has been reported to have a potential protective effect on stress-induced functional gastrointestinal disorders. This study determined whether colonic contraction in adults was affected by antenatal maternal hypoxia, and whether OT is involved in antenatal maternal hypoxia induced colonic contraction disorder. Isometric spontaneous contractions were recorded in colonic longitudinal muscle strips in order to investigate colonic contractions and the effects of exogenous OT on the contraction in antenatal maternal hypoxia and control mice.

Multifunctional small molecule for controlled assembly of oligomeric nanoparticles and crosslinked polymers.

One multifunctional small molecule can undergo a natural condensation reaction under the control of reducing agent to generate amphiphilic oligomers which quickly self-assemble supramolecular nanoparticles or form crosslinked, reversibly degradable polymers.

Caspase-3 controlled assembly of nanoparticles for fluorescence turn on.

A caspase-3 controlled condensation was applied to self-assemble biotinylated nanoparticles for capturing FITC-labelled streptavidin and subsequently turning on the fluorescence signal.

[Study on ultraviolet upconversion emissions of Gd3+ induced by Tm3+ under 980 nm excitation].

Series of Tm3+/Yb3+ co-doped GdF3 powders were synthesized through an easy and mild hydrothermal method. The phase and purity of powders were characterized by powder X-ray diffraction (XRD) (Rigaku RU-200b). The morphologies of the samples were characterized by field emission scanning electron microscopy (FE SEM) (Hitachi S-4800).

No spatial memory deficit exists in Kunming mice that recently recovered from motor defects following 3-nitropropionic acid intoxication.

Objective: Numerous studies have described both motor defects and cognitive impairments in several strains of rodents following 3-nitropropionic acid (3-NP) intoxication. In the present study, we investigated spatial recognition memory in Kunming mice that just recovered from motor defects induced by 3-NP.

Methods: Mouse model was made by systemic subacute 3-NP treatment, and spatial recognition memory was measured through the Y-maze Test, a simple two-trial recognition test.

[A novel red phosphor (La3PO7:Eu3+) prepared by solid state method].

Novel red phosphor, Eu3+ -doped oxyphosphate (La3 PO7:Eu3+), was synthesized by a solid state method under high temperature. All the starting materials were analytical grade. La2O3, EuO3 and (NH4)2HPO4 weighed in appropriated molar ratios and ground in an agate mortar.