Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review.

16p11.2 deletion syndrome is a group disorder associated with intellectual impairment, developmental delay, and autism spectrum disorder (ASD). Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an extremely rare condition.

Identification of spastic ataxia-related proteins via comparative proteomic analysis of the cerebellum of conditional Ankfy1 knockout mice.

Ankyrin repeat and FYVE domain containing 1 (ANKFY1) is an indispensable protein in the development of cerebellar Purkinje cells. Our preliminary study revealed that its absence caused progressive spastic ataxia, accompanied by the loss of Purkinje cells in mice. Here, we generated Ankfy1-floxed (Ankfy1) mice, in which conditional inactivation of the Ankfy1 gene was achieved specifically in cerebellar Purkinje cells via crossing with a transgenic mouse strain expressing Cre recombinase under the regulatory control of the Purkinje cell protein 2 (PCP2) promoter.

Effects of Degassing Treatment on the Dielectric Properties of XLPE Insulation Used in High-Voltage DC Power Cables.

Cross-linked polyethylene power cables are widely used in high-voltage DC transmission lines, owing to their good dielectric and physical-chemical properties. However, the production process of XLPE involves cross-linking and degassing, in which the cross-linking process produces a variety of cross-linking by-products, and the changes in the properties of the cable insulation caused by the degassing process are not well understood. XLPE samples were degassed at 90 °C for 7 and 14 days in this paper, and the main by-products were found to be α-methylstyrene, acetophenone, and cumyl alcohol, the contents of which all declined after the degassing treatment.

Enhancing the ferroelectric performance of HfZrOfilms by optimizing the incorporation of Al dopant.

HfO-based ferroelectric (FE) thin films have gained considerable interest for memory applications due to their excellent properties. However, HfO-based FE films face significant reliability challenges, especially the wake-up and fatigue effects, which hinder their practical application. In this work, we fabricated 13.

Polyunsaturated Fatty Acids in Quinoa Induce Ferroptosis of Colon Cancer by Suppressing Stemness.

Polyunsaturated fatty acids (PUFAs) are essential nutrients for the human body, playing crucial roles in reducing blood lipids, anti-inflammatory responses, and anticancer effect. Quinoa is a nutritionally sound food source, rich in PUFAs. This study investigates the role of quinoa polyunsaturated fatty acids (QPAs) on quelling drug resistance in colorectal cancer.

Terpenoids from quinoa reverse drug resistance of colon cancer by upregulating miR-495-3p.

Background: Quinoa contains far more nutrients than any traditional grain crop. It is known that terpenoids in quinoa have anti-inflammatory and antitumor effects, but their role in reversing drug resistance remains unclear.

Results: Our previous studies showed that quinoa-derived terpenoid compounds (QBT) can inhibit the occurrence and development of colon cancer.

Clinical Features and Differences of Miller Fisher Syndrome in Southern China: Retrospective Analysis of 72 Patients in 13 Provinces of Southern China.

Background And Purpose: We aimed to determine the clinical features of Miller Fisher syndrome (MFS) in southern China and compare them with those presenting in other countries.

Methods: We collected the medical records of patients diagnosed with MFS during 2013-2016. We analyzed the age, sex, onset season, precursor events, clinical symptoms and signs, findings of nerve conduction studies (NCS), cerebrospinal fluid (CSF), therapeutic remedies, nadir time, and length of hospital stay of patients with MFS in southern China.

MicroRNA-23a-3p Is Upregulated in Plasma Exosomes of Bulbar-onset ALS Patients and Targets ERBB4.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease related to the progressive death of motor neurons. Understanding the pathogenesis of ALS continues to provide considerable challenges. Bulbar-onset ALS involves faster functional loss and shorter survival time than spinal cord-onset ALS.

SS-31 alleviated nociceptive responses and restored mitochondrial function in a headache mouse model via Sirt3/Pgc-1α positive feedback loop.

Migraine is the second highest cause of disability worldwide, bringing a huge socioeconomic burden. Improving mitochondrial function has promise as an effective treatment strategy for migraine. Szeto-Schiller peptide (SS-31) is a new mitochondria-targeted tetrapeptide molecule that has been shown to suppress the progression of diseases by restoring mitochondrial function, including renal disease, cardiac disease, and neurodegenerative disease.

Evaluating the Catalytic Activities of PNCNP Pincer Group 10 Metal Hydride Complexes: Pd-Catalyzed Reduction of CO to the Formic Acid Level with NH·BH and NaBH under Ambient Conditions.

In order to develop efficient protocols for CO reduction with less expensive and more convenient hydrogen sources, the catalytic reactivities of group 10 metal hydride complexes supported by a PNCNP pincer ligand, [2,6-(BuPNH)CH]MH (M = Ni, ; Pd, ; Pt, ), against the hydroboration of CO with NH·BH and NaBH have been explored. Both and readily react with CO at room temperature to form the corresponding formato complexes, [2,6-(BuPNH)CH]MOC(O)H (M = Ni, ; Pd, ), in nearly quantitative yields. Treatment of NH·BH with CO (1 atm) in 1,4-dioxane or THF at room temperature in the presence of 0.

[Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay].

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of the SACS gene which maps to chromosome 13q11 and encodes sacsin protein. Sacsin is highly expressed in large motor neurons, in particular cerebellar Purkinje cells. This article has provided a review for the structure and function of sacsin protein and the mechanisms underlying abnormalities of sacsin in ARSACS disease.

Noncatalyzed Reduction of Nitriles to Primary Amines with Ammonia Borane.

The preparation of primary amines from nitriles has been a subject of continuing interest, and many different methods have been reported for this process. We report in this paper an alternative method for transforming nitriles into primary amines. In this work, a wide range of nitriles were reduced to primary amines by 1.

Downregulation of GABAARα1 Aggravates Comorbidity of Epilepsy and Migraine via the TLR4 Signaling Pathway.

Epilepsy and migraine are among the most prevalent neurological disorders. By being comorbid, the presence of one disorder increases the likelihood of the other. Although several similar clinical features of epilepsy and migraine have been observed as early as the 19th century, only in recent years have researchers engaged in finding a common pathogenic mechanism between them.

Reactions and catalytic applications of a PNCNP pincer palladium hydride complex.

A palladium(II) hydride complex supported by a benzene-based PNCNP pincer ligand, [2,6-(BuPNH)CH]PdH (1), has been synthesized two different routes: the reaction of the corresponding chloride complex with LiAlH and the reaction of the corresponding nitrate complex with KOCH. Complex 1 exhibits strong deprotonating ability and versatile catalytic activity. Acetamide can be readily deprotonated by complex 1 to form the corresponding acetamido complex, [2,6-(BuPNH)CH]PdNHC(O)CH, in high yield.

Coordination mode and stability of the tetrahydroborate ligand in group 10 metal pincer complexes.

The coordination mode of the BH ligand in transition metal tetrahydroborate complexes is mainly dominated by the nature of the metal centres. However, other factors can also play important roles sometimes. In order to rationalize the coordination modes and the stability of the BH ligand in group 10 metal tetrahydroborate pincer complexes, [2,6-(BuPO)CH]Pt(η-HBH) and [CH--(NCHPBu)B]M(η-HBH) (M = Ni, Pt) were prepared and characterized.

Performance Evaluation of Cross-Linked Polyethylene Insulation of Operating 110 kV Power Cables.

The ageing characteristic of XLPE insulation of operating a 110 kV power cable with different service time is studied in this paper. The microscopic morphology of XLPE films from different cables were characterized by using Differential Scanning Calorimetry (DSC), X-ray Diffraction method (XRD), and Fourier Transform Infrared Spectroscopy (FTIR) methods, and the dielectric, mechanical, and electrical properties of XLPE were also measured. The relationship of several typical property parameters with the cable service time were established, and the ageing mechanism of XLPE insulation of the operating cable was also analyzed.

The Nocebo Response in Pharmacologic Treatments of Primary Headache: A Systematic Review and Meta-Analysis.

The nature and magnitude of nocebo responses in primary headache disorders are still unknown. To assess the distribution and possible predictors of nocebo responses in primary headache treatments, databases, including PubMed, EMBASE, and Cochrane Library were searched from 1988 to December 31, 2020, for parallel-group, double-blind, randomized placebo-controlled trials of pharmacologic treatments of primary headaches. The nocebo responses were calculated using a random effects meta-analysis model.

The Stability of Diphosphino-Boryl PBP Pincer Backbone: PBP to POP Ligand Hydrolysis.

Since moisture may frequently be present in many solvents, it is important to know the reactivity of a catalyst against water for catalytic reactions. In order to explore the stability and understand the transformation process of diphosphino-boryl-based PBP pincer platform, [PdCl{B(NCH P Bu ) -o-C H }] (1) was treated with PdCl , HB(NCH PPh ) -o-C H was reacted with [PdCl (cod)] (cod=cyclo-octa-1,5-diene) and [Pd (dba) ] (dba=dibenzylideneacetone), respectively, in the presence of water. Some novel palladium POP complexes, [Pd Cl (μ-Cl){μ-κ -P,O,P-OB(NCH P Bu ) -o-C H }] (2 a), [Pd (μ-Cl) (μ-O) {μ-κ -P,O,P-OB(NCH PPh ) -o-C H } ] (2 b), [Pd {μ-κ -P,P,P,P-O(B(NCH PPh ) -o-C H ) }{μ-κ -P,P-(NHCH PPh ) -o-C H }] (3), were obtained.

Damage Effect of ALD-AlO Based Metal-Oxide-Semiconductor Structures under Gamma-Ray Irradiation.

The radiation response of AlO on silicon substrate under gamma-rays is studied in this article. The atomic layer deposited AlO based metal-oxide-semiconductor structures were irradiated under gamma-ray with the total dose of 1.2 Mrad(Si)/2.

[Status quo of the treatment of spinocerebellar ataxia towards its pathogenesis].

Spinocerebellar ataxia (SCA) is a group of autosomal dominant hereditary diseases. Based on their inheritance pattern, they can be divided into SCAs caused by expansion of microsatellite repeats or point mutations. Although SCAs may be diagnosed based on their clinical characteristics and results of genetic testing, their treatment still remains as a challenge.

Aircraft Passenger Comfort Based on Muscle Activation and Perceived Discomfort During Long Flights.

The purpose of this study was to investigate the comfort of aircraft passengers during long flights and to determine the effects of the seatback angle and the seat pitch on passengers' upper body muscles (neck, shoulder, and lower back) and subjective comfort. All subjects sat on an aircraft seat for 2 h with different levels of seatback angle and seat pitch. Subjective discomfort scores and root mean square (RMS) and mean power frequency (MPF) values were used to evaluate muscle fatigue, and all data were calculated for every 15-min interval.

Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment, proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis.

Congenital muscular dystrophy with laminin-α2 deficiency, also known as MDC1A, displays an extensive phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counseling. Here we report one individual from a family presenting with clinical features including seizure attack, slight weakness of proximal leg muscles, and mild cognitive impairment with increased small angular fibers, decreased expression of α-DG and β-DG, normal expression of laminin-α2, and severe white matter changes.

Inhibition of Acid Sensing Ion Channel 3 Aggravates Seizures by Regulating NMDAR Function.

The existing data about whether acid sensing ion channels (ASICs) are proconvulsant or anticonvulsant are controversial. Particularly, acid sensing ion channel 3 (ASIC3) is the most sensitive to extracellular pH and has the characteristic ability to generate a biphasic current, but few studies have focused on the role of ASIC3 in seizure. Here we found ASIC3 expression was increased in the hippocampus of pilocarpine induced seizure rats, as well as in hippocampal neuronal cultures undergoing epileptiform discharge elicited by Mg-free media.