The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.

Objective: Netherton syndrome (NS) is a rare hereditary dermatosis, and the correlation between genotype and phenotype in this disease warrants further investigation. This study aimed to explore the genotype-phenotype correlation in NS.

Methods: We collect cases from our clinic and relevant literature.

Light-Driven N-Heterocyclic Carbene-Catalyzed Multi-Component Reaction for the Synthesis of β-Amino Ketones.

A N-heterocyclic carbene-catalyzed (NHC) three-component reaction involving -aminopyridinium salts, alkenes, and aldehydes for the synthesis of β-amino ketones is described. In this reaction, -aminopyridinium salts and the Breslow intermediate, which is generated from NHC and aldehydes, are utilized to undergo a single-electron transfer process, forming a ketyl radical intermediate and amidyl radicals. Subsequent to the formation of the amidyl radical, it undergoes selective capture by alkenes, followed by radical cross-coupling to yield the desired β-amino ketones.

Photoinduced Ligand-to-Copper Charge Transfer for Aryl Decarboxylative Allylation, Thiolation, and Bromination.

Herein, aryl decarboxylative allylation, thiolation, and bromination reactions via photoinduced ligand-to-copper charge transfer are described. Utilizing inexpensive copper metal, the transformations of various aryl carboxylic acids enable the rapid synthesis of the corresponding alkene, thioether, and aryl bromide derivatives under visible light irradiation, which offers significant synthetic value. The reaction conditions are mild and straightforward, exhibiting a broad substrate compatibility.

Structural Optimization of Polyimide-Film Humidity Sensors for New Energy Vehicles.

This paper presents a comprehensive study of the structural optimization of polyimide-film (PI-film) capacitive humidity sensors, with a focus on enhancing their performance for application in new energy vehicles (NEVs). Given the critical role of humidity sensors in ensuring the safety and efficiency of vehicle operations─particularly in monitoring lithium-ion battery systems─the study explores the intricate relationship between the interdigitated electrode (IDE) dimensions and the PI-film thickness to optimize sensor responsiveness and reliability. Through a combination of COMSOL Multiphysics simulations (a powerful finite element analysis, solver, and simulation software) and experimental validation, the research identifies the optimal geometrical combination that maximizes the sensitivity and minimizes the response time.

Iron-Catalyzed Multicomponent C-H Alkylation of in Situ Generated Imines via Photoinduced Ligand-to-Metal Charge Transfer.

Herein, we describe a novel photoinduced iron-catalyzed strategy for multicomponent C-H alkylation of in situ generated imines. By utilizing the alkyl radicals generated through iron-mediated photocatalytic C-H activation, the imines formed in situ are further subjected to addition reactions, resulting in the synthesis of various secondary and tertiary amine products. This method is simple to operate and does not require additional oxidants.

Minute level ultra-rapid and thousand copies level high-sensitive pathogen nucleic acid identification based on contactless impedance detection microsensor.

Early screening for pathogens is crucial during pandemic outbreaks. Nucleic acid testing (NAT) is a valuable method for keeping pathogens from spreading. However, the long detection time and large size of the instruments involved significantly limited the efficiency of detection.

Development and validation of outcome prediction model for reperfusion therapy in acute ischemic stroke using nomogram and machine learning.

Objective: To develop logistic regression nomogram and machine learning (ML)-based models to predict 3-month unfavorable functional outcome for acute ischemic stroke (AIS) patients undergoing reperfusion therapy.

Methods: Patients undergoing reperfusion therapy (intravenous thrombolysis and/or endovascular treatment) were prospectively recruited. Unfavorable outcome was defined as 3-month modified Rankin Scale (mRS) score 3-6.

Effects of Quercetin on the Intestinal Microflora of Freshwater Dark Sleeper .

Flavonoids have antimicrobial and anti-oxidation properties. The effects of the flavonoid quercetin on the intestinal microflora of freshwater dark sleeper were tested for the first time. juveniles were treated with quercetin for 21 days at one of three concentrations (2.

Changes in life-history traits, antioxidant defense, energy metabolism and molecular outcomes in the cladoceran Daphnia pulex after exposure to polystyrene microplastics.

Ubiquitous plastic pollution is a threat to the organisms' survival and ecosystem functions, especially in aquatic environments. Although there is increasing concern about the toxicity of microplastics, knowledge about the effects of microplastics of diverse sizes and adverse impacts on freshwater organisms is still limited. In the present study, the alteration in life-history traits, antioxidant defense and energy metabolism of the model freshwater zooplankton Daphnia pulex were assessed after chronic exposure to gradient concentrations (0.

Effect of quercetin on muscle growth and antioxidant status of the dark sleeper .

Quercetin is a flavanol beneficial in reducing fat, promoting muscle growth, and Anti-oxidation. To study its effects in freshwater fish, the full-length cDNA of the follistatin () and myostatin () genes of the dark sleeper were cloned for the first time. Juvenile individual was exposed to quercetin at one of four concentrations (0, 2.

A batch microfabrication of a self-cleaning, ultradurable electrochemical sensor employing a BDD film for the online monitoring of free chlorine in tap water.

Free chlorine is one of the key water quality parameters in tap water. However, a free chlorine sensor with the characteristics of batch processing, durability, antibiofouling/antiorganic passivation and in situ monitoring of free chlorine in tap water continues to be a challenging issue. In this paper, a novel silicon-based electrochemical sensor for free chlorine that can self-clean and be mass produced via microfabrication technique/MEMS (Micro-Electro-Mechanical System) is proposed.

A novel gene order and remolded tRNAs revealed in the mitogenome of Asian gecarcinucid freshwater crabs (Brachyura, Gecarcinucidae).

Here we report the first mitochondrial genomes (mitogenomes) of four species of gecarcinucid freshwater crabs (FWCs) in two genera, two from China (Somanniathelphusa hainanensis and S. yangshanensis), one from Laos (Esanthelphusa dugasti), and one from Myanmar (Esanthelphusa keyini). A novel gecarcinucid mitochondrial gene order (GMGO2) that was only found in E.

Dissecting the chromosome-level genome of the Asian Clam (Corbicula fluminea).

The Asian Clam (Corbicula fluminea) is a valuable commercial and medicinal bivalve, which is widely distributed in East and Southeast Asia. As a natural nutrient source, the clam is rich in protein, amino acids, and microelements. The genome of C.

Microfluidic sensor integrated with nanochannel liquid conjunct Ag/AgCl reference electrode for trace Pb(II) measurement.

Pollution due to heavy metals is becoming increasingly hazardous; therefore, demand for the large-scale deployment of sensor nodes for water quality monitoring has increased. The development of integrated and miniaturised sensors for detecting heavy metals is necessary. Herein, an integrated microfluidic sensor based on a "glass-silicon-glass" sandwich structure is proposed for Pb detection.

The complete mitogenome of freshwater gammarid (Crustacea: Amphipoda).

The freshwater gammarid is an important composition of benthic community. In this study, the complete mitogenome sequences of are determined using next-generation and PacBio long-read sequencing. The mitogenome of is 15,099 bp in size, and consisted of 13 protein-coding genes, two ribosomal genes, 22 genes, and a putative control region.

Single-cell genetic analysis of lung tumor cells based on self-driving micro-cavity array chip.

Lung cancer is one of the common malignant tumors with a high incidence and mortality rate. Targeted therapies are efficient on lung cancer patients with specific gene mutations. Circulating tumor cells (CTCs) are used for liquid biopsy, providing genetic information for lung cancer treatment selection and prognosis.

A high-precision thermometry microfluidic chip for real-time monitoring of the physiological process of live tumour cells.

Temperature changes in cells are generally accompanied by physiological processes. Cellular temperature measurements can provide important information to fully understand cellular mechanisms. However, temperature measurements with conventional methods, such as fluorescent polymeric thermometers and thermocouples, have limitations of low sensitivity or cell state disturbance.

Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.

Netherton syndrome (NS) is a rare, autosomal recessive hereditary skin disease caused by mutations in SPINK5 gene, characterized with severe skin barrier damage. A human induced pluripotent stem cell (iPSC) line has been established with electroporation method from urine-derived cells of a NS patient carrying a compound heterozygous mutation c.2260A > T (p.

The complete mitochondrial genome of (Perciformes Callionymidae).

In this study, we present the complete mitogenome and a phylogenetic analysis of , determined by long PCR and primer walking methods. The complete mitochondrial genome is a circular molecule of 16,491 bp in length and contains the same set of 37 mitochondrial genes (13 protein-coding genes, 2 ribosomal RNA (rRNA), 22 transfer RNA (tRNA)), and a control region as other bony fishes. The base composition of the entire mitogenome showed a slight excess of AT bias.

A batch microfabrication of a microfluidic electrochemical sensor for rapid chemical oxygen demand measurement.

Chemical oxygen demand (COD) is one of the key water quality parameters in environmental monitoring. However, fabricating a COD sensor with the characteristic of batch-processing and rapid measurement is always a challenging issue. This paper reports a microfluidic electrochemical sensor for the organic matter measurement based on advanced oxidization within a fixed microvolume detection chamber by a microfabrication technique/MEMS.