Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.

Background: Polydactyly is a prevalent limb deformity with an autosomal dominant inheritance pattern, manifesting in both syndromic and nonsyndromic forms. It exhibits significant etiological and clinical diversity. This study aims to identify the pathogenic cause in two patients with sub-PHS (sub-Pallister-Hall Syndrome) and PAP (postaxial polydactyly), respectively, from two Chinese pedigrees.

Immunological Insights into the Causal Link Between Arthritis, Osteoarthritis, and Frailty: An Integrated Analytical Study.

Previous observational studies have observed associations between rheumatoid arthritis (RA), knee osteoarthritis (KOA), hip osteoarthritis (HOA), and frailty, but the causal relationships remain unestablished. This study aimed to evaluate the causal relationships between RA, KOA, HOA, KneeHipOA, and frailty using Mendelian randomization (MR) and bioinformatics analysis. We performed two-sample MR to test for causality between RA, KOA, HOA, KneeHipOA, and frailty.

Incomplete ovarian function suppression in premenopausal breast cancer patients treated with gonadotropin-releasing hormone agonists.

Background: Ovarian function suppression (OFS) has emerged as a crucial adjuvant therapy for premenopausal breast cancer patients. Some patients fail to achieve complete OFS with commonly used OFS drugs. The definition of incomplete OFS remains unclear, and large-scale data on its incidence are lacking.

Enhancing the Thermoelectric Performance of n-Type MgSbBi by Reducing Lattice Thermal Conductivity through the Incorporation of Chlorine-Containing Compounds.

MgSb-based thermoelectric materials are characterized by their economic efficiency, nontoxicity, and environmental friendliness and represent a highly promising and eco-friendly functional material for midtemperature applications. To achieve a higher thermoelectric performance, we introduced two compounds, LaCl and CeCl, into MgSbBi under the guidance of first-principles calculations. The MgSbBi + 0.

HiLo microscopy with caustic illumination.

HiLo microscopy is an optical sectioning structured illumination microscopy technique based on computationally combining two images: one with uniform illumination and the other with structured illumination. The most widely used structured illumination in HiLo microscopy is random speckle patterns, due to their simplicity and resilience to tissue scattering. Here, we present a novel HiLo microscopy strategy based on random patterns.

Cytological and metabolomic analysis of Citrus fruit to elucidate puffing disorder.

Puffiness, a physiological disorder commonly observed during the ripening and post-harvest processes of fruits in Citrus reticulata, significantly affects the quality and shelf-life of citrus fruits. The complex array of factors contributing to puffiness has obscured the current understanding of its mechanistic basis. This study examined the puffing index (PI) of 12 citrus varieties at full ripeness, focusing on the albedo layer as a crucial tissue, and investigated the correlation between cellular structural characteristics, key primary metabolites and PI.

Achieving High Thermoelectric Performance in ZnSe-Doped CuGaTe by Optimizing the Carrier Concentration and Reducing Thermal Conductivity.

The CuGaTe thermoelectric material has garnered widespread attention as an inexpensive and nontoxic material for mid-temperature thermoelectric applications. However, its development has been hindered by its low intrinsic carrier concentration and high thermal conductivity. This study investigates the band structure and thermoelectric properties of (CuGaTe) (ZnSe) ( = 0, 0.

BMSC-Exosomes attenuate ALP dysfunction by restoring lysosomal function via the mTOR/TFEB Axis to reduce cerebral ischemia-reperfusion injury.

Background: The complex pathophysiological changes following cerebral ischemia-reperfusion injury (CIRI) include the accumulation of defective proteins and damaged organelles, which cause massive neuron demise. To preserve cellular homeostasis, the autophagy-lysosomal pathway (ALP) is crucial for neurons to dispose of these substances. Many studies have shown that bone mesenchymal stem cell exosomes (BMSC-Exos) can reduce CIRI.

Zinc Doping Induces Enhanced Thermoelectric Performance of Solvothermal SnTe.

The creation of hierarchical nanostructures can effectively strengthen phonon scattering to reduce lattice thermal conductivity for improving thermoelectric properties in inorganic solids. Here, we use Zn doping to induce a remarkable reduction in the lattice thermal conductivity in SnTe, approaching the theoretical minimum limit. Microstructure analysis reveals that ZnTe nanoprecipitates can embed within SnTe grains beyond the solubility limit of Zn in the Zn alloyed SnTe.

Bibliometric and visual analysis of single-cell sequencing from 2010 to 2022.

Single-cell sequencing (SCS) is a technique used to analyze the genome, transcriptome, epigenome, and other genetic data at the level of a single cell. The procedure is commonly utilized in multiple fields, including neurobiology, immunology, and microbiology, and has emerged as a key focus of life science research. However, a thorough and impartial analysis of the existing state and trends of SCS-related research is lacking.

Simultaneously Boosting Thermoelectric and Mechanical Properties of n-Type MgSbBi-Based Zintls through Energy-Band and Defect Engineering.

Incorporating donor doping into MgSbBi to achieve n-type conductivity is one of the crucial strategies for performance enhancement. In pursuit of higher thermoelectric performance, we herein report co-doping with Te and Y to optimize the thermoelectric properties of MgSbBi, achieving a peak exceeding 1.7 at 703 K in YMgSbBiTe.

Multiplane HiLo microscopy with speckle illumination and non-local means denoising.

Significance: HiLo microscopy synthesizes an optically sectioned image from two images, one obtained with uniform and another with patterned illumination, such as laser speckle. Speckle-based HiLo has the advantage of being robust to aberrations but is susceptible to residual speckle noise that is difficult to control. We present a computational method to reduce this residual noise without undermining resolution.

Band Engineering and Phonon Engineering Effectively Improve n-Type MgSb Thermoelectric Material Properties.

MgSb-based thermoelectric materials can convert heat and electricity into each other, making them a promising class of environmentally friendly materials. Further improving the electrical performance while effectively reducing the thermal conductivity is a crucial issue. In this paper, under the guidance of the oneness principle calculation, we designed a thermoelectric Zintl phase based on MgSbBi doped with Tb and Er.

AgCl Addition to Chalcopyrite Compound for Ultra-Low Thermal Conductivity in Realizing High ZT Thermoelectric Materials.

Optimizing the performance of thermoelectric materials by reducing its thermal conductivity is crucial to enhance its thermoelectric efficiency. Novel thermoelectric materials like the CuGaTe compound are hindered by high intrinsic thermal conductivity, which negatively impacts its thermoelectric performance. In this paper, we report that the introduction of AgCl by the solid-phase melting method will influence the thermal conductivity of CuGaTe.

Effects of inspiratory muscle training in patients with hypertension: a meta-analysis.

Objective: To explore the effects of inspiratory muscle training (IMT) on hypertension and provide guidance for its clinical application as an auxiliary approach.

Methods: Articles published prior to July 2022 were searched in Cochrane Library, Web of Science, PubMed, Embase, CNKI, and Wanfang databases. Included were randomized controlled studies that used IMT to treat individuals with hypertension.

Research hotspots and frotiers of stem cells in stroke: A bibliometric analysis from 2004 to 2022.

Stroke is one of the leading causes of mortality and permanent disability worldwide. However, the current stroke treatment has a limited effect. Therefore, a new treatment is urgently needed.

Efficacy of non-invasive brain stimulation on cognitive and motor functions in multiple sclerosis: A systematic review and meta-analysis.

Objective: In this study, we aimed to investigate the effects of non-invasive brain stimulation (NIBS) on cognitive and motor functions in patients with multiple sclerosis (pwMS).

Methods: A literature search was performed in the Cochrane Library, Embase, PubMed, Web of Science, Medline, CNKI, and Wan fang. The time interval used for database construction was up to December 2022, and the language was not limited.

Efficacy and safety of whole-body vibration therapy for post-stroke spasticity: A systematic review and meta-analysis.

Background: One of the main objectives of stroke rehabilitation is to alleviate post-stroke spasticity. Over the recent years, many studies have explored the potential benefits of whole-body vibration (WBV) treatment for post-stroke spasticity, but it is still controversial.

Objective: The current study aims to assess the efficacy and safety of WBV for post-stroke spasticity and determine the appropriate application situation.

Doping Copper Selenide for Tuning the Crystal Structure and Thermoelectric Performance of Germanium Telluride-Based Materials.

Germanium telluride (GeTe) compounds exhibit excellent thermoelectric performance. In this study, copper selenide (CuSe) was used to tune the crystal structure and carrier concentration () of GeTe materials. The of the 1% CuSe-doped GeTe sample reaches 1.

[Genetic analysis of a family with BCL11A-related intellectual disability].

Objective: To explore the genetic basis for two patients from a family with BCL11A-related intellectual disability (BCL11A-ID).

Methods: Clinical data of the proband and her family members was analyzed. Chromosomal karyotyping analysis, trio-whole exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were carried out.

Correcting sampling bias in speckle contrast imaging.

When performing spatial or temporal laser speckle contrast imaging (LSCI), contrast is generally estimated from localized windows containing limited numbers of independent speckle grains N. This leads to a systematic bias in the estimated speckle contrast. We describe an approach to determine N and largely correct for this bias, enabling a more accurate estimation of the speckle decorrelation time without recourse to numerical fitting of data.

Direct characterization of tissue dynamics with laser speckle contrast imaging.

Laser speckle contrast imaging (LSCI) has gained broad appeal as a technique to monitor tissue dynamics (broadly defined to include blood flow dynamics), in part because of its remarkable simplicity. When laser light is backscattered from a tissue, it produces speckle patterns that vary in time. A measure of the speckle field decorrelation time provides information about the tissue dynamics.

Synergistically improving the thermoelectric and mechanical performance for p-type MnGeSbTe alloys.

The MnGeTe compound crystallizes in a cubic structure without any phase transition and has great potential for enhancing the thermoelectric merit of MnGeTe-based materials. In this work, Sb was used as an effective dopant to replace Ge sites in MnGeTe compounds. By optimizing the carrier concentration, excellent power factors can be obtained in the tested temperature range.