Case Report: Charcot-marie-tooth disease caused by a gene mutation - novel insights into pathogenicity and treatment.

Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy involving approximately 80 pathogenic genes. Whole-exome sequencing (WES) and confirmatory Sanger sequencing analysis was applied to identify the disease-causing mutations in a Chinese patient with lower limb weakness. We present an 18-year-old male with a 2.

Genetic Evaluation of Water Use Efficiency and Nutrient Use Efficiency in Bartr. ex Marsh. Seedlings in China.

Bartr. ex Marsh. represents a valuable genetic resource for fast-growing plantations in temperate regions.

Small reservoirs can enhance the terrestrial carbon sink of controlled basins in karst areas worldwide.

The concentration of Greenhouse Gas (GHG) in the atmosphere has sharply increased since the Industrial Revolution, leading to climate warming and severe environmental problems. It has become a consensus that GHG emissions of large reservoirs essentially constitute inland aquatic GHG emissions. However, questions remain regarding whether small karst reservoir (SKR) is only a substantial source of GHG emissions like large reservoirs, and how much GHG emission it can offset by affecting the terrestrial carbon sink (TCS) of its controlled basin.

Insights into the effect mechanism of freeze-thaw cycles on starch gel structure and quality characteristics of frozen extruded whole buckwheat noodles.

The effects of freeze-thaw cycles (FTC) on starch gel structure and quality characteristics of frozen extruded whole buckwheat noodles (FEWBN) were studied. The repeated FTC treatments induced the retrogradation of amylose which increased the compactness, crystallinity, hardness, and cooking time of FEWBN. However, with the increasing number of freeze-thaw cycles, the larger volume of ice crystals formed in the noodles destroyed the starch gel network structure to a certain extent, and led to the dehydration and syneresis of the noodles, and the quality deterioration.

Effects of fatty acids and glycerides on the structure, cooking quality, and in vitro starch digestibility of extruded buckwheat noodles.

This study aimed to explore the effects of various lipids on the structure, cooking quality, and in vitro starch digestibility of extruded buckwheat noodles (EBNs) with and without 20% high-amylose corn starch (HACS). Fourier transform infrared spectroscopy, differential scanning calorimetry, and X-ray diffraction revealed that lauric acid bound more strongly to starch than did stearic acid and oleic acid, and the binding capacity of fatty acids with starch was stronger than that of glycerides. The presence of HACS during extrusion facilitated increased formation of starch-lipid complexes.

Application of the process-based teaching based on SPARK case database in the practice teaching of radiology in the musculoskeletal system for undergraduate medical students.

Background: Process-based teaching is a new education model. SPARK case database is a free medical imaging case database. This manuscript aimed to explore the application of the process-based teaching based on SPARK case database in the practice teaching of radiology in the musculoskeletal system.

Fabrication of cinnamon essential oil nanoemulsions with high antibacterial activities via microfluidization.

The high volatility and hydrophobicity of cinnamon essential oils (CiEO) limited their practical application. To enhance their stability and antibacterial activity, nanoemulsions encapsulating CiEO were prepared using hydroxypropyl-β-cyclodextrin/lauroyl arginate (HPCD/LAE) inclusion complexes through high-pressure microfluidization (HPM). Effects of HPM parameters on the stability and antibacterial properties of nanoemulsion were investigated.

Artificial intelligence model system for bone age assessment of preschool children.

Backgroud: Our study aimed to assess the impact of inter- and intra-observer variations when utilizing an artificial intelligence (AI) system for bone age assessment (BAA) of preschool children.

Methods: A retrospective study was conducted involving a total sample of 53 female individuals and 41 male individuals aged 3-6 years in China. Radiographs were assessed by four mid-level radiology reviewers using the TW3 and RUS-CHN methods.

From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.

NKAP mutations are associated with Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD, MIM: #301039). Here, we elucidate the potential prenatal manifestation of NKAP mutation-associated disorder for the first time, alongside revealing the relationship between NKAP mutations and congenital heart defect (CHD) in the Chinese population. An NKAP mutation (NM_024528.

A novel frameshift mutation in a Chinese pedigree with polydactyly: A case report.

Background: gene mutations can result in various forms of polysyndactyly, such as Greig cephalopolysyndactyly syndrome (GCPS, MIM: #175700), Pallister-Hall syndrome (PHS, MIM: #146510), and isolated polydactyly (IPD, MIM: #174200, #174700). Reports on IPD-associated mutations are rare. In this study, a novel mutation was identified in a Chinese family with IPD.

Deep evolutionary fusion neural network: a new prediction standard for infectious disease incidence rates.

Background: Previously, many methods have been used to predict the incidence trends of infectious diseases. There are numerous methods for predicting the incidence trends of infectious diseases, and they have exhibited varying degrees of success. However, there are a lack of prediction benchmarks that integrate linear and nonlinear methods and effectively use internet data.

Preparation and characterization of starch/PBAT film containing hydroxypropyl-β-cyclodextrin/ethyl lauroyl arginate/cinnamon essential oil microcapsules and its application in the preservation of strawberry.

Cinnamon essential oil (CEO) was emulsified by hydroxypropyl-β-cyclodextrin/ ethyl lauroyl arginate (HPCD/LAE) complex to make nanoemulsions, which were then incorporated into maltodextrin (MD) to prepare HPCD/LAE/CEO/MD microcapsules by spray drying. The starch/polybutylene adipate terephthalate (starch/PBAT, SP) based extrusion-blowing films containing above microcapsules were developed and used as packaging materials for strawberry preservation. The morphology, encapsulation efficiency, thermal and antibacterial properties of microcapsules with different formulations were investigated.

Structure, rheological properties, and biocompatibility of Laponite® cross-linked starch/polyvinyl alcohol hydrogels.

Hydrogels, owing to their unique porous structures, hydrophilic properties, and biocompatibility, are being developed as scaffolds for bone grafts. However, the use of toxic initiators or cross-linking agents is a drawback. To overcome this, we developed Laponite®/cross-linked starch/polyvinyl alcohol (PVA) hydrogels prepared by one-step solution mixing.

[Analysis of the Environmental Risk of Livestock Manure Pollution and Resource Treatment Technology].

Rapid development of the livestock and poultry industry has greatly promoted the rural economic prosperity of China. However, the problems resulting from the livestock manure, such as large emissions, low utilization rate, and environmental pollution are also becoming increasingly serious. Based on the current situation of livestock manure discharge in China, the typical contaminants in livestock manure and their pollution characteristics in soil, water, and air were systematically analyzed in this study.

Preparation and characterization of carnauba wax-based particle with hierarchical structure and its use as hydrophobic coating for chitosan films.

To improve the hydrophobicity of polysaccharide-based films, hydrophobic carnauba wax-based particles were prepared by Pickering emulsion. The influence of the different size of the particles on the structure and hydrophobicity of the chitosan coating films were investigated. The results showed that micro-scale particles (average particle size 25.

OEDL: an optimized ensemble deep learning method for the prediction of acute ischemic stroke prognoses using union features.

Background: Early stroke prognosis assessments are critical for decision-making regarding therapeutic intervention. We introduced the concepts of data combination, method integration, and algorithm parallelization, aiming to build an integrated deep learning model based on a combination of clinical and radiomics features and analyze its application value in prognosis prediction.

Methods: The research steps in this study include data source and feature extraction, data processing and feature fusion, model building and optimization, model training, and so on.

Spatio-temporal pattern, matching level and prediction of ageing and medical resources in China.

Objective: Population ageing, as a hot issue in global development, increases the burden of medical resources in society. This study aims to assess the current spatiotemporal evolution and interaction between population ageing and medical resources in mainland China; evaluate the matching level of medical resources to population ageing; and forecast future trends of ageing, medical resources, and the indicator of ageing-resources (IAR).

Methods: Data on ageing (EPR) and medical resources (NHI, NBHI, and NHTP) were obtained from China Health Statistics Yearbook and China Statistical Yearbook (2011-2020).

Effect of nano-TiO particle size on the bonding performance and film-forming properties of starch-based wood adhesives.

The effect of nano-TiO particle size on the properties of starch-based wood adhesives was studied in this work. Our findings indicate that a smaller size of nano-TiO particles corresponds with a larger specific surface area and more hydroxyl sites on the particle surface that interact with latex molecules, forming a more compact network structure. Therefore, the bonding performance and water resistance of the adhesive were enhanced.

Effect of low temperature extrusion-modified potato starch addition on properties of whole wheat dough and texture of whole wheat youtiao.

In this study, low temperature extrusion-modified potato starch (MPS) was added to improve properties of whole wheat dough and textural quality of resulted youtiao. Extrusion temperature (60, 90 ℃) and barrel moisture content (30, 42 and 54%) were set as test variables. The results suggested that the low temperature extrusion processing caused moderate gelatinization and improved gel-forming properties of potato starch.

Application of SPARK teaching in acute abdomen radiography teaching for undergraduate medical students.

Background: Acute abdomen is a series of acute and severe abdominal diseases commonly encountered in clinic. It is important to strengthen the image teaching of acute abdomen for undergraduates.

Aim: This study aimed to explore the application effect of SPARK[sub-speciality (S), problem-based learning (P), assessment (A), report (R) and reading skill (K)] teaching mode in the experimental teaching of acute abdomen for undergraduate medical students.

Quinoa protein Pickering emulsion: A promising cryoprotectant to enhance the freeze-thaw stability of fish myofibril gels.

In this work, the effects of different QPE addition on the freeze-thaw (F-T) stability of fish myofibrillar protein (MP) gels were revealed. During freezing process, QPE decreased the freezing point of MP gels and shortened the time to pass through the maximum-ice-crystal-formation zone. The occurrence of thermal hysteresis effect led to the formation of small ice crystals and alleviated the damage to MP gel network.

E-DU: Deep neural network for multimodal medical image segmentation based on semantic gap compensation.

Background: U-Net includes encoder, decoder and skip connection structures. It has become the benchmark network in medical image segmentation. However, the direct fusion of low-level and high-level convolution features with semantic gaps by traditional skip connections may lead to problems such as fuzzy generated feature maps and target region segmentation errors.

Immunotherapy-based novel nanoparticles in the treatment of gastrointestinal cancer: Trends and challenges.

Gastrointestinal cancer (GIC) is the most common cancer with a poor prognosis. Currently, surgery is the main treatment for GIC. However, the high rate of postoperative recurrence leads to a low five-year survival rate.

Integrating Internet multisource big data to predict the occurrence and development of COVID-19 cryptic transmission.

With the recent prevalence of COVID-19, cryptic transmission is worthy of attention and research. Early perception of the occurrence and development risk of cryptic transmission is an important part of controlling the spread of COVID-19. Previous relevant studies have limited data sources, and no effective analysis has been carried out on the occurrence and development of cryptic transmission.