Case Report: Cerebral folate deficiency caused by variant.

Background: Cerebral folate transport deficiency (CFD) is a rare neurological disease characterized by a deficiency in 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid, with a normal peripheral total folate level. Late infantile-onset refractory seizures, ataxia, movement disorders, hypotonia, developmental delays, and developmental regression characterize CFD. Some patients present with visual and hearing impairments and autism-like manifestations.

Efficacy of bevacizumab combined with apatinib in the treatment of advanced metastatic gastric cancer.

Objective: To evaluate the clinical efficacy and safety of bevacizumab combined with apatinib in the treatment of advanced metastatic gastric cancer, providing insights for treatment decisions.

Methods: We conducted a single-center retrospective study involving patients with metastatic gastric cancer treated with apatinib, with or without bevacizumab, between August 2018 and April 2021 at Nanchang Medical College. Data on efficacy, adverse events, response rates, and quality of life were collected and compared.

Divergent Response of Two Bark Beetle-Fungal Symbiotic Systems to Host Monoterpenes Reflects Niche Partitioning Strategies.

The successful establishment of bark beetle-fungus symbionts on plants is required to overcome host defenses. However, little is known about how different bark beetle-fungus symbionts adapt to different niches on the same host plant. Here, we investigated the niche partitioning mechanism of two co-occurring bark beetle-fungus symbiotic systems, Ips nitidus-Ophiostoma bicolor and Dendroctonus micans-Endoconidiophora laricicola, on Qinghai spruce (Picea crassifolia) tree.

Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report.

Rationale: Both spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function while PKU may have an impact on both the intelligence and motor function.

Establishment of a transgene-free iPS cell line (SDCHi008-A) from a young patient bearing a KCNQ2 mutation and suffering from Epilepsy.

Epilepsy is a chronic neurological disease which has affected ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a KCNQ2 gene mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC.

Flexible and multi-functional three-dimensional scaffold based on enokitake-like Au nanowires for real-time monitoring of endothelial mechanotransduction.

Endothelial cells are sensitive to mechanical force and can convert it into biochemical signals to trigger mechano-chemo-transduction. Although conventional techniques have been used to investigate the subsequent modifications of cellular expression after mechanical stimulation, the in situ and real-time acquiring the transient biochemical information during mechanotransduction process remains an enormous challenge. In this work, we develop a flexible and multi-functional three-dimensional conductive scaffold that integrates cell growth, mechanical stimulation, and electrochemical sensing by in situ growth of enokitake-like Au nanowires on a three-dimensional porous polydimethylsiloxane substrate.

Multi-walled carbon nanotubes-metal-organic framework nanocomposite based sensor for the monitoring of multiple monoamine neurotransmitters in living cells.

The levels of monoamine neurotransmitters (MNTs) including dopamine (DA), adrenaline (Adr), norepinephrine (NE) and 5-hydroxytryptamine (5-HT) in cells are useful indicators to explore the pathogenesis of MNTs-related diseases such as Alzheimer's disease, Parkinson's disease and depression. Herein, we constructed a novel electrochemical sensing platform based on multi-walled carbon nanotubes (MWCNTs)-amine functionalized Zr (IV) metal-organic framework (UIO-66-NH) nanocomposite for the detection of multiple MNTs including DA, Adr, NE and 5-HT. The synergistic effect between MWCNTs and UIO-66-NH endowed the nanocomposite with high specific surface area, low interface impedance and superior electrocatalytic activity, which effectively enhance the electrochemical performance of the sensor.

CS/PVP Hydrogel-Based Nanocapillary for Monitoring Bacterial Growth and Rapid Antibiotic Susceptibility Testing.

Infection with drug-resistant bacteria poses a significant threat to human health. Judicious use of antibiotics could reduce the likelihood of bacterial resistance, which can be evaluated through antibiotic susceptibility testing (AST). This paper focuses on the application of a needle-like nanocapillary tip filled with chitosan (CS)/polyethylene pyrrolidone (PVP) hydrogel based on its specific pH-sensitive properties.

Crape myrtle LiGAoxs displaying activities of gibberellin oxidases respond to branching architecture.

In the realm of ornamental horticulture, crape myrtle (Lagerstroemia indica) stands out for its aesthetic appeal, attributed largely to its vibrant flowers and distinctive branching architecture. This study embarked on a comprehensive exploration of the gibberellin oxidase (GAox) gene family in crape myrtle, illuminating its pivotal role in regulating GA levels, a key determinant of plant developmental processes. We identified and characterized 36 LiGAox genes, subdivided into GA2ox, GA3ox, GA20ox, and GAox-like subgroups, through genomic analyses.

Comparative genomic analysis reveals expansion of the DnaJ gene family in Lagerstroemia indica and its members response to salt stress.

DnaJs/Hsp40s/JPDs are obligate co-chaperones of heat shock proteins (Hsp70), performing crucial biological functions within organisms. A comparative genome analysis of four genomes (Vitis vinifera, Eucalyptus grandis, Lagerstroemia indica, and Punica granatum) revealed that the DnaJ gene family in L. indica has undergone expansion, although not to the extent observed in P.

Diagnostic value of serum NLRP3, metalloproteinase-9 and interferon-γ for postoperative hydrocephalus and intracranial infection in patients with severe craniocerebral trauma.

Traumatic brain injury (TBI) is a major cause of morbidity and mortality globally. We unveiled the diagnostic value of serum NLRP3, metalloproteinase-9 (MMP-9) and interferon-γ (IFN-γ) levels in post-craniotomy intracranial infections and hydrocephalus in patients with severe craniocerebral trauma to investigate the high risk factors for these in patients with TBI, and the serological factors predicting prognosis, which had a certain clinical predictive value. Study subjects underwent bone flap resection surgery and were categorized into the intracranial infection/hydrocephalus/control (without postoperative hydrocephalus or intracranial infection) groups, with their clinical data documented.

Sensitive electrochemical flow injection analysis of HO released from cells with a pass-through mode.

Conventional plate electrodes were commonly used in electrochemical flow injection analysis and only part of molecules diffused to the plane of electrodes could be detected, which would limit the performance of electrochemical detection. In this study, a low-cost native stainless steel wire mesh (SSWM) electrode was integrated into a 3D-printed device for electrochemical flow injection analysis with a pass-through mode, which is different compared with previous flow-through mode. This strategy was applied for sensitive analysis of hydrogen peroxide (HO) released from cells.

Characterization, expression pattern, and function analysis of gibberellin oxidases in Salix matsudana.

Gibberellin oxidases (GAoxs) identified from many species play indispensable roles in GA biosynthesis and GA signal transduction. However, there has been limited research conducted on the GAox family of Salix matsudana, a tetraploid ornamental tree species. Here, 54 GAox genes were identified from S.

Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.

Background: Based on research, c.609G>A (p.W203X) is a universal mutation site for MMACHC in methylmalonic acidemia (MMA) combined with homocystinuria, cblC type (cblC disease), and c.

A Bifunctional Wearable Sensor Based on a Nanoporous Membrane for Simultaneous Detection of Sweat Lactate and Temperature.

Wearable sensors for non-invasive, real-time detection of sweat lactate have far-reaching implications in the fields of health care and exercise physiological responses. Here, we propose a wearable electrochemical sensor with gold nanoelectrode arrays fabricated on the nanoporous polycarbonate (PC) membrane by encapsulating lactate oxidase (LO) in chitosan (CS) hydrogel for detecting body temperature and sweat lactate concurrently. Flexible gold nanoporous electrodes not only enhance electrode area but also offer a nanoconfined space to accelerate the catalytic reaction of LO and control substrate concentration on the surface of LO to decrease substrate inhibition.

Analysis of factors associated with IUI pregnancy outcomes in elderly and young patients.

Objective: The objective of this study was to investigate the correlation between various factors and the clinical outcomes of Intrauterine Insemination (IUI) in both young and aged patients, aiming to provide a theoretical basis for clinical consultations.

Methods: This retrospective analysis examined a total of 4,221 IUI cycles conducted at the Reproductive Center of Changzhou Maternal and Child Health Hospital between January 2016 and December 2020. The patients were categorized into two groups based on age: the elder group (≥ 35 years) and the young group (< 35 years).

Multivitamin consumption and childhood asthma: a cross-sectional study of the NHANES database.

Background: Dietary intakes of vitamins are associated with asthma. However, previous studies mainly explored the association between a single vitamin intake and asthma, which did not take the multivitamins into consideration. Herein, this study aims to explore the overall effect of dietary multivitamins consumption on childhood asthma.

Comprehensive analysis of annexin gene family and its expression in response to branching architecture and salt stress in crape myrtle.

Background: Annexin (ANN) is calcium (Ca)-dependent and phospholipid binding protein family, which is involved in plant growth and development and response to various stresses. However, little known about ANN genes were identified from crape myrtle, an ornamental horticultural plant widely cultivated in the world.

Results: Here, 9 LiANN genes were identified from Lagerstroemia indica, and their characterizations and functions were investigated in L.

The catabolic specialization of the marine bacterium sp. Q13 to red algal β1,3/1,4-mixed-linkage xylan.

Catabolism of algal polysaccharides by marine bacteria is a significant process of marine carbon cycling. β1,3/1,4Mixed-linkage xylan (MLX) is a class of xylan in the ocean, widely present in the cell walls of red algae. However, the catabolic mechanism of MLX by marine bacteria remains elusive.

Utilizing artificial intelligence-based eye tracking technology for screening ADHD symptoms in children.

Objective: To explore the potential of using artificial intelligence (AI)-based eye tracking technology on a tablet for screening Attention-deficit/hyperactivity disorder (ADHD) symptoms in children.

Methods: We recruited 112 children diagnosed with ADHD (ADHD group; mean age: 9.40 ± 1.

Analyzing the dynamic measurement of growth and development in children born after the transplantation of poor quality blastocyst embryos: a propensity matching study.

Objective: This study aimed to observe the dynamic measurement of growth and development in children (0-3 years) after transplantation of low-quality frozen-thawed single blastocysts.

Methods: This was a retrospective cohort study conducted from January 2016 to December 2019 at a single center. The follow-up data of the children were obtained from the Jiangsu Province Maternal and Child Database.

Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.

Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair. Heterozygous mutations in the SMARCA2 gene are the most common cause of NCBRS. Here, we generated an induced pluripotent stem cell line SDQLCHi056-A from a five-year-old girl with NCBRS caused by heterozygous mutation (c.

Stretchable Sponge-Based Electrochemical Biosensor for Real-Time Sensing of Cells in Three-Dimensional Culture.

For the study of cell biology, real-time information on cell physiological processes will be more accurate and closer to the in vivo condition in a three-dimensional (3D) culture system. Although most reported 3D cell culture scaffolds can better mimic the in vivo dynamic microenvironment, the real-time analysis technique is deficient or lacking. Herein, a stretchable and conductive 3D scaffold is developed to construct an electrochemical biosensor for real-time monitoring of cell release in 3D culture under stimulation of drug stimulant and mechanical force.