New chapter in reform and development of organ donation and transplantation in China: Embracing past, grounding in national conditions, upholding steadfast belief, and looking forward to future.

The reform stems from honesty and determination. Since 2005, organ donation and transplantation in China has undergone thorough reform, which complies with legislation requirements and ethical principles established by the World Health Organization (WHO). Reform in China has demonstrated the unwavering confidence and utmost determination of the Chinese government and the Chinese transplantation community.

Ketogenic diet therapy leads to antiseizure medication reduction in children and adults with drug-resistant epilepsy.

Aims: This study aimed to evaluate the safety of reducing or withdrawing anti-seizure medications (ASMs) in a cohort comprising both adults and children with drug-resistant epilepsy (DRE) undergoing ketogenic diet therapy (KDT).

Methods: We conducted a comprehensive analysis of clinical profiles in adults and children with DRE who had adhered to KDT for at least 6 months. Successful withdrawal or reduction of an ASM was defined as discontinuation or dose reduction without subsequent resumption or increase and without initiation of any new ASM throughout the entire follow-up period.

Health-related quality of life and influencing factors of patients with paroxysmal nocturnal hemoglobinuria in China.

Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder, leading to various complications and impairments in patients' health-related quality of life (HRQOL). Limited research has been conducted to evaluate the HRQOL of Chinese patients with PNH. Understanding the HRQOL in this specific population is crucial for providing effective healthcare interventions and improving patient' health outcomes.

Automated detection of focal cortical dysplasia based on magnetic resonance imaging and positron emission tomography.

Purpose: Focal cortical dysplasia (FCD) is a common etiology of drug-resistant focal epilepsy. Visual identification of FCD is usually time-consuming and depends on personal experience. Herein, we propose an automated type II FCD detection approach utilizing multi-modal data and 3D convolutional neural network (CNN).

Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder.

Background: Intellectual disability (ID) refers to a childhood-onset neurodevelopmental disorder with a prevalence of approximately 1%-3%.

Methods: We performed whole exome sequencing for the patient with ID. And the splicing variant we found was validated by minigene assay.

A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.

Epilepsy is one of the most common disorders in children, with an incidence rate of approximately 5%. Although an increasing number of genes have been demonstrated to be pathogenic factors in epilepsy, evidence for a potential pathogenic role of ATP6V1A remains limited. Herein, the clinical and genetic data of a 5-year-old boy who experienced seizures at 9 months of age are collected.

A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and developmental delay or regression. To date, limited studies have reported DEEs driven by FGF13. Here, we reported a girl with developmental and epileptic encephalopathy 90 caused by variant of FGF13.

[Observation of the therapeutic effect on acute ankle sprain treated with surrounding needling and cold compression].

Objective: To observe the difference in the therapeutic effect on acute ankle sprain treated with the combination of surrounding needling and cold compression in comparison of the conventional cold compression.

Methods: The patients with acute ankle sprain were randomly divided into control group (33 cases) and observation group (35 cases). In the first 3 days of treatment, the conventional cold compression was used in the control group, while the surrounding needling technique of acupuncture was combined with cold compression in the observation group.

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.

Background: Developmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments. Pathogenic variants in , encoding for potassium channel subunit, cause -related DEE. This study aimed to examine the relationships between genotype and phenotype in -related DEE.

Efficacy and safety of perampanel monotherapy in patients with focal-onset seizures:A real-world experience in eastern China.

Objective: To assess the effectiveness and tolerability of perampanel (PER) monotherapy in real-world practice for the treatment of focal-onset seizures (FOS) in eastern China.

Method: This is a single-center, retrospective study of patients with FOS, aged ≥ 4 years, who had been prescribed PER as monotherapy. Outcomes included retention, seizure-free, and responder rates at 3, 6 and 12 months and adverse events (AEs) throughout the follow-up period.

A Vis/NIR spectra-based approach for identifying bananas infected with .

Introduction: of banana caused by is one of the most serious post-harvest diseases, which can cause significant yield losses. Clarifying the infection mechanism of the fungi using non-destructive methods is crucial for timely discriminating infected bananas and taking preventive and control measures.

Methods: This study presented an approach for tracking growth and identifying different infection stages of the in bananas using Vis/NIR spectroscopy.

Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).

Developmental epileptic encephalopathy-47 (DEE47) is a nervous system disease characterized by the onset of intractable seizures that appear the first days or weeks after birth. FGF12 is the disease-causing gene of DEE47 that encodes a small cytoplasm protein, which is a member of the fibroblast growth factor homologous factor (FGF) family. The FGF12-encoded protein interacts with the cytoplasmic tail of voltage-gated sodium channels to enhance the voltage dependence of rapid inactivation of sodium channels in neurons.

Efficacy of perampanel in pediatric epilepsy with known and presumed genetic etiology.

Objective: The efficacy of perampanel (PER) in pediatric epilepsy with specific etiologies has not been well established. Here, we investigated outcome and predictors of PER treatment in a pediatric cohort with known and presumed genetic etiology.

Methods: We included pediatric patients with potential genetic epilepsy who received PER treatment and underwent whole-exome sequencing (WES) from January 2020 to September 2021.

Enhanced biodegradation of fluoroquinolones and the changes of bacterial communities and antibiotic-resistant genes under intermittent electrical stimulation.

In this study, an anaerobic-aerobic coupling system under intermittent electrical stimulation was used to improve the biodegradation of synthetic wastewater containing fluoroquinolones (FQs). The effect of electrical stimulation on FQ removal performance is more pronounced with appropriate voltage and hydraulic retention time. In addition, the combination of anaerobic-anodic and aerobic-cathodic chambers is more conducive to improving the removal efficiency of FQs.

Impact of Voltage Application on Degradation of Biorefractory Pharmaceuticals in an Anaerobic-Aerobic Coupled Upflow Bioelectrochemical Reactor.

Diclofenac, ibuprofen, and carbamazepine are frequently detected in the environment, where they pose a threat to organisms and ecosystems. We developed anaerobic-aerobic coupled upflow bioelectrochemical reactors (AO-UBERs) with different voltages, hydraulic retention times (HRTs), and types of electrode conversion, and evaluated the ability of the AO-UBERs to remove the three pharmaceuticals. This study showed that when a voltage of 0.

Comprehensive analysis of lysine lactylation in .

Western flower thrips () are among the most important pests globally that transmit destructive plant viruses and infest multiple commercial crops. Lysine lactylation (Klac) is a recently discovered novel post-translational modification (PTM). We used liquid chromatography-mass spectrometry to identify the global lactylated proteome of , and further enriched the identified lactylated proteins using Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO).

Levels, source apportionment, and risk assessment of polycyclic aromatic hydrocarbons in vegetable bases of northwest China.

Dietary consumption of contaminated vegetables is the main route of human exposure to polycyclic aromatic hydrocarbons (PAHs). However, there is a lack of research on PAHs in vegetables from northwest China. In this study, the concentrations, sources, and risk assessment of PAHs in the soil and vegetables of Urumqi, an urbanized city in Xinjiang, China, were investigated.

Retinoic Acid Supplementation Rescues the Social Deficits in Knockout Mice.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder with the underlying etiology yet incompletely understood and no cure treatment. Patients of fragile X syndrome (FXS) also manifest symptoms, e.g.

Impact of air temperature and containment measures on mitigating the intrahousehold transmission of SARS-CoV-2: a data-based modelling analysis.

Objectives: Air temperature has been considered a modifiable and contributable variable in COVID-19 transmission. Implementation of non-pharmaceutical interventions (NPIs) has also made an impact on COVID-19 transmission, changing the transmission pattern to intrahousehold transmission under stringent containment measures. Therefore, it is necessary to re-estimate the influence of air temperature on COVID-19 transmission while excluding the influence of NPIs.

Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.

Giant axonal neuropathy (GAN) is a progressive disease that involves the peripheral and central nervous systems. This neurodegenerative disease is caused by variants in the GAN gene encoding gigaxonin, and is inherited in an autosomal recessive manner. Herein, we performed whole-exome sequencing on a 8-year-old child with dense, curly hair, weakness in both lower limbs, and abnormal MRI.

Leadership, management, quality, and innovation in organ donation: 2019 Kunming recommendations for One Belt & One Road countries.

The findings and recommendations of the 2019 consensus conference in organ donation, held in Kunming, China, are here reported. The main objective of the conference was to gather relevant information from experts involved in the field. The data and opinions provided allowed to propose a series of recommendations for "One Belt & One Road Countries" on how to achieve self-sufficiency in organ donation.

Differential Functional Changes of Nav1.2 Channel Causing -Related Epilepsy and Status Epilepticus During Slow Sleep.

Nav1.2 encoded by the gene is a brain-expressed voltage-gated sodium channel known to be associated with neurodevelopment disorders ranging from benign familial neonatal infantile seizures (BFIS) to developmental and epileptic encephalopathy (DEE) and autism spectrum disorder. Interestingly, status epilepticus during slow sleep (ESES), which aggravates cognitive impairment, has been found in -related epilepsy.