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1.
Front Surg ; 11: 1409283, 2024.
Article in English | MEDLINE | ID: mdl-38939077

ABSTRACT

Background: Cervical spondylotic amyotrophy (CSA) is a special type of cervical spondylosis based on cervical degeneration, which is mainly manifested by weakness and atrophy of upper limb muscles without obvious sensory impairment. Various diagnostic and treatment strategies used; however, discrepancies exist. We tried to discuss diagnosing and treating CSA. Methods: 15 patients with CSA were diagnosed in the Orthopedics Department of the First Affiliated Hospital of Zhengzhou University, aged 42-70 years old. The duration of preoperative symptoms of amyotrophy was 6 to 240 months. 12 patients received surgical treatment, and 3 patients received conservative treatment. The patients were divided into two groups according to the site of preoperative amyotrophy. The manual muscle test was used to evaluate the patients' muscle strength pre-and postoperatively. Results: During postoperative follow-up, the muscle strength of 12 patients improved to different degrees compared to before surgery. The improvement effect was excellent in 2 cases, good in 6, and moderate in 4. There was no decrease in postoperative muscle strength compared with that before surgery. The satisfaction rate of the effect was 66.7%. The two groups had no statistically significant difference in preoperative muscle strength. The postoperative muscle strength of the proximal group was significantly better than that of the distal group. Conclusion: The surgical effect of CSA of the proximal type is significantly better than that of the distal type. The recovery effect of amyotrophy after surgery for distal type CSA is poor; thus, surgical treatment should be carefully considered.

2.
J Mater Chem B ; 12(25): 6063-6078, 2024 Jun 27.
Article in English | MEDLINE | ID: mdl-38888153

ABSTRACT

Injectable hydrogels have attracted significant interest in the biomedical field due to their minimal invasiveness and accommodation of intricate scenes. Herein, we developed an injectable polyurethane-based thermogel platform by modulating the hydrophilic-hydrophobic balance of the segmented components with pendant PEG. The thermogelling behavior is achieved by a combination of the bridging from the hydrophilic PEG and the percolated network from the hydrophobic micelle core. Firstly, the thermogelation mechanism of this system was demonstrated by both DPD simulation and experimental investigation. The gelling temperature could be modulated by varying the solid content, the component of soft segments, and the length of the pendant PEG. We further applied 3D printing technology to prepare personalized hydrogel structures. This integration highlights the adaptability of our thermogel for fabricating complex and patient-specific constructs, presenting a significant advance in the field of regenerative medicine and tissue engineering. Subsequently, in vitro cell experiments demonstrated that the thermogel had good cell compatibility and could promote the proliferation and migration of L929 cells. Impressively, A549 cells could be expediently in situ parceled in the thermogel for three-dimensional cultivation and gain lifeful 3D cell spheres after 7 days. Further, in vivo experiments demonstrated that the thermogel could promote wound healing with the regeneration of capillaries and hair follicles. Ultimately, our study demonstrates the potential of hydrogels to prepare personalized hydrogel structures via 3D printing technology, offering innovative solutions for complex biomedical applications. This work not only provides a fresh perspective for the design of injectable thermogels but also offers a promising avenue to develop thermoresponsive waterborne polyurethane for various medical applications.


Subject(s)
Hydrogels , Micelles , Polyurethanes , Polyurethanes/chemistry , Humans , Animals , Hydrogels/chemistry , Mice , Wound Healing/drug effects , Biocompatible Materials/chemistry , Biocompatible Materials/chemical synthesis , Cell Proliferation/drug effects , Temperature , Cell Culture Techniques, Three Dimensional/methods , Injections , Cell Movement/drug effects , Particle Size
3.
Mikrochim Acta ; 191(7): 367, 2024 06 04.
Article in English | MEDLINE | ID: mdl-38832980

ABSTRACT

An electrochemical aptasensor was used for the fast and sensitive detection of zearalenone (ZEN) based on the combination of Co3O4/MoS2/Au nanocomposites and the hybrid chain reaction (HCR). The glassy carbon electrode was coated with Co3O4/MoS2/Au nanomaterials to immobilize the ZEN-cDNA that had been bound with ZEN-Apt by the principle of base complementary pairing. In the absence of ZEN, the HCR could not be triggered because the ZEN-cDNA could not be exposed. After ZEN was added to the surface of the electrode, a complex structure was produced on the modified electrode by the combination of ZEN and ZEN-Apt. Therefore, the ZEN-cDNA can raise the HCR to produce the long-strand dsDNA structure. Due to the formation of dsDNA, the methylene blue (MB) could be inserted into the superstructure of branched DNA and the peak currents of the MB redox signal dramatically increased. So the concentration of ZEN could be detected by the change of signal intensity. Under optimized conditions, the developed electrochemical biosensing strategy showed an outstanding linear detection range of 1.0×10-10 mol/L to 1.0×10-6 mol/L, a low detection limit (LOD) of 8.5×10-11 mol/L with desirable selectivity and stability. Therefore, the fabricated platform possessed a great application potential in fields of food safety, medical detection, and drug analysis.


Subject(s)
Electrochemical Techniques , Food Analysis , Hazard Analysis and Critical Control Points , Nanocomposites , Zearalenone , Zearalenone/analysis , Hazard Analysis and Critical Control Points/methods , Food Analysis/instrumentation , Food Analysis/methods , Nanocomposites/chemistry , Nanocomposites/standards , Electrodes , Gold/chemistry , Sensitivity and Specificity , Reproducibility of Results
4.
Materials (Basel) ; 17(11)2024 May 29.
Article in English | MEDLINE | ID: mdl-38893895

ABSTRACT

A Q345 steel butt-welded joint was manufactured using laser-arc hybrid welding (LAHW) technology, and its microstructure, microhardness, and residual stress (RS) distribution were measured. Using ABAQUS software, a sequentially coupled thermo-metallurgical-mechanical finite element method was employed to model the welding RS distribution in the LAHW joint made of Q345 steel. The effects of solid-state phase transformation (SSPT) and transverse restraint on the welding RS distribution were explored. The results show that a large number of martensite phase transformations occurred in the fusion zone and heat-affected zone of the LAHW joint. Furthermore, the SSPT had a significant effect on the magnitude and distribution of RS in the LAHW joint made of Q345 steel, which must be taken into account in numerical simulations. Transverse restraints markedly increased the transverse RS on the upper surface, with a comparatively minor impact on the longitudinal RS distribution. After the transverse restraint was released, both the longitudinal and transverse RS distributions in the LAHW joint reverted to a level akin to that of the welded joint under free conditions.

5.
Biomed Res Int ; 2024: 6640796, 2024.
Article in English | MEDLINE | ID: mdl-38884020

ABSTRACT

Diabetes has a significant global prevalence. Chronic hyperglycemia affects multiple organs and tissues, including bones. A large number of diabetic patients develop osteoporosis; however, the precise relationship between diabetes and osteoporosis remains incompletely elucidated. The activation of the AGE-RAGE signaling pathway hinders the differentiation of osteoblasts and weakens the process of bone formation due to the presence of advanced glycation end products. High glucose environment can induce ferroptosis of osteoblasts and then develop osteoporosis. Hyperglycemia also suppresses the secretion of sex hormones, and the reduction of testosterone is difficult to effectively maintain bone mineral density. As diabetes therapy, thiazolidinediones control blood glucose by activating PPAR-γ. Activated PPAR-γ can promote osteoclast differentiation and regulate osteoblast function, triggering osteoporosis. The effects of metformin and insulin on bone are currently controversial. Currently, there are no appropriate tools available for assessing the risk of fractures in diabetic patients, despite the fact that the occurrence of osteoporotic fractures is considerably greater in diabetic individuals compared to those without diabetes. Further improving the inclusion criteria of FRAX risk factors and clarifying the early occurrence of osteoporosis sites unique to diabetic patients may be an effective way to diagnose and treat diabetic osteoporosis and reduce the risk of fracture occurrence.


Subject(s)
Osteoporosis , Humans , Osteoporosis/metabolism , Risk Factors , Osteoporotic Fractures/metabolism , Fractures, Bone/metabolism , Metabolic Networks and Pathways , Diabetes Mellitus/metabolism , Bone Density , Osteoblasts/metabolism , Signal Transduction
6.
Front Pediatr ; 12: 1363728, 2024.
Article in English | MEDLINE | ID: mdl-38737634

ABSTRACT

Background: There are few reports of infantile mitochondrial DNA depletion syndrome (MDDS) caused by variants in RRM2B and the correlation between genotype and phenotype has rarely been analyzed in detail. This study investigated an infantile patient with MDDS, from clinical characteristics to genetic causes. Methods: Routine physical examinations, laboratory assays, which included gas chromatography-mass spectrometry of blood and urine, and MRI scans were performed to obtain an exact diagnosis. Whole-exome sequencing was used to pinpoint the abnormal gene and bioinformatic analyses were performed on the identified variant. Results: The case presented with progressive neurologic deterioration, failure to thrive, respiratory distress and lactic acidosis. Sequencing revealed that the patient had a homozygous novel missense variant, c.155T>C (p.Ile52Thr), in exon 2 of the RRM2B gene. Multiple lines of bioinformatic evidence suggested that this was a likely detrimental variant. In addition, reported RRM2B variants were compiled from the relevant literature to analyze disease etiology. We found a distinctive distribution of genotypes across disease manifestations of different severity. Pathogenic alleles of RRM2B were significantly enriched in MDDS cases. Conclusion: The novel variant is a likely genetic cause of MDDS. It expands our understanding of the pathogenic variant spectrum and the contribution of the RRM2B gene to the disease spectrum of MDDS.

7.
Sci Adv ; 10(22): eadk1113, 2024 May 31.
Article in English | MEDLINE | ID: mdl-38809973

ABSTRACT

Water purification via interfacial solar steam generation exhibits promising potential. However, salt crystallization on evaporators reduces solar absorption and obstructs water supply. To address it, a waffle-shaped solar evaporator (WSE) has been designed. WSE is fabricated via a zinc-assisted pyrolysis route, combining low-cost biomass carbon sources, recyclable zinc, and die-stamping process. This route enables cost-effective production without the need of sophisticated processing. As compared to conventional plane-shaped evaporators, WSE is featured by extra sidewalls for triggering the convection with the synergistic solute and thermal Marangoni effects. Consequently, WSE achieves spontaneous salt rejection and durable evaporation stability. It has demonstrated continuous operation for more than 60 days in brine without fouling.

8.
Chin J Traumatol ; 2024 May 21.
Article in English | MEDLINE | ID: mdl-38811319

ABSTRACT

PURPOSE: We carried out the study aiming to explore and analyze the risk factors, the distribution of pathogenic bacteria, and their antibiotic-resistance characteristics influencing the occurrence of surgical site infection (SSI), to provide valuable assistance for reducing the incidence of SSI after traumatic fracture surgery. METHODS: A retrospective case-control study enrolling 3978 participants from January 2015 to December 2019 receiving surgical treatment for traumatic fractures was conducted at Tangdu Hospital of Air Force Medical University. Baseline data, demographic characteristics, lifestyles, variables related to surgical treatment, and pathogen culture were harvested and analyzed. Univariate analyses and multivariate logistic regression analyses were used to reveal the independent risk factors of SSI. A bacterial distribution histogram and drug-sensitive heat map were drawn to describe the pathogenic characteristics. RESULTS: Included 3978 patients 138 of them developed SSI with an incidence rate of 3.47% postoperatively. By logistic regression analysis, we found that variables such as gender (males) (odds ratio (OR) = 2.012, 95% confidence interval (CI): 1.235 - 3.278, p = 0.005), diabetes mellitus (OR = 5.848, 95% CI: 3.513 - 9.736, p < 0.001), hypoproteinemia (OR = 3.400, 95% CI: 1.280 - 9.031, p = 0.014), underlying disease (OR = 5.398, 95% CI: 2.343 - 12.438, p < 0.001), hormonotherapy (OR = 11.718, 95% CI: 6.269 - 21.903, p < 0.001), open fracture (OR = 29.377, 95% CI: 9.944 - 86.784, p < 0.001), and intraoperative transfusion (OR = 2.664, 95% CI: 1.572 - 4.515, p < 0.001) were independent risk factors for SSI, while, aged over 59 years (OR = 0.132, 95% CI: 0.059 - 0.296, p < 0.001), prophylactic antibiotics use (OR = 0.082, 95% CI: 0.042 - 0.164, p < 0.001) and vacuum sealing drainage use (OR = 0.036, 95% CI: 0.010 - 0.129, p < 0.001) were protective factors. Pathogens results showed that 301 strains of 38 species of bacteria were harvested, among which 178 (59.1%) strains were Gram-positive bacteria, and 123 (40.9%) strains were Gram-negative bacteria. Staphylococcus aureus (108, 60.7%) and Enterobacter cloacae (38, 30.9%) accounted for the largest proportion. The susceptibility of Gram-positive bacteria to Vancomycin and Linezolid was almost 100%. The susceptibility of Gram-negative bacteria to Imipenem, Amikacin, and Meropenem exceeded 73%. CONCLUSION: Orthopedic surgeons need to develop appropriate surgical plans based on the risk factors and protective factors associated with postoperative SSI to reduce its occurrence. Meanwhile, it is recommended to strengthen blood glucose control in the early stage of admission and for surgeons to be cautious and scientific when choosing antibiotic therapy in clinical practice.

9.
Micromachines (Basel) ; 15(5)2024 May 13.
Article in English | MEDLINE | ID: mdl-38793218

ABSTRACT

The widespread vibration is one of the most promising energy sources for IoT and small sensors, and broad-frequency vibration energy harvesting is important. Triboelectric nanogenerators (TENGs) can convert vibration energy into electrical energy through triboelectricity and electrostatic induction, providing an effective solution to the collection of broad-frequency vibration energy. Also, the power supply in constrained and compact spaces has been a long-standing challenge. Here, a miniaturized power supply (MPS) based on a broad-frequency vibration-driven triboelectric nanogenerator (TENG) is developed. The size of the MPS is 38 mm × 26 mm × 20 mm, which can adapt to most space-limited environments. The TENG device is optimized through theoretical mechanical modeling for the external stimuli, it can efficiently harvest vibrational energy in the frequency range of 1-100 Hz and has a high output power density of 134.11 W/cm3. The developed device demonstrates its practical application potential in powering small electronics like LEDs, watches, and timers.

10.
Sci Total Environ ; 929: 172432, 2024 Jun 15.
Article in English | MEDLINE | ID: mdl-38615768

ABSTRACT

In recent years, there has been an increasing amount of research on nitrogen oxides (NOx) emissions, and the environmental impact of aviation NOx emissions at cruising altitudes has received widespread attention. NOx may play a crucial role in altering the composition of the atmosphere, particularly regarding ozone formation in the upper troposphere. At present, the ground emission database based on the landing and takeoff (LTO) cycle is more comprehensive, while high-altitude emission data is scarce due to the prohibitively high cost and the inevitable measurement uncertainty associated with in-flight sampling. Therefore, it is necessary to establish a comprehensive NOx emission database for the entire flight envelope, encompassing both ground and cruise phases. This will enable a thorough assessment of the impact of aviation NOx emissions on climate and air quality. In this study, a prediction model has been developed via convolutional neural network (CNN) technology. This model can predict the ground and cruise NOx emission index for turbofan engines and mixed turbofan engines fueled by either conventional aviation kerosene or sustainable aviation fuels (SAFs). The model utilizes data from the engine emission database (EEDB) released by the International Civil Aviation Organization (ICAO) and results obtained from several in-situ emission measurements conducted during ground and cruise phases. The model has been validated by comparing measured and predicted data, and the results demonstrate its high prediction accuracy for both the ground (R2 > 0.95) and cruise phases (R2 > 0.9). This surpasses traditional prediction models that rely on fuel flow rate, such as the Boeing Fuel Flow Method 2 (BFFM2). Furthermore, the model can predict NOx emissions from aircrafts burning SAFs with satisfactory accuracy, facilitating the development of a more complete and accurate aviation NOx emission inventory, which can serve as a basis for aviation environmental and climatic research. SYNOPSIS: The utilization of the ANOEPM-CNN offers a foundation for establishing more precise emission inventories, thereby reducing inaccuracies in assessing the impact of aviation NOx emissions on climate and air quality.

11.
Heliyon ; 10(7): e28010, 2024 Apr 15.
Article in English | MEDLINE | ID: mdl-38601552

ABSTRACT

Background: Klebsiella pneumoniae is a causative agent of bacterial meningitis in adults. However, there is little information regarding this infection. Therefore, this study comprehensively analyzed the clinical characteristics and prognosis of Klebsiella pneumoniae meningitis (KPM) patients. Methods: The clinical data of adult hospitalized patients with KPM were retrospectively collected from January 2015 to December 2022. The clinical characteristics and antibiotic resistance of KPM were evaluated. Meanwhile, a set of logistic regression models was constructed to identify prognostic factors for death. These prognostic factors were subsequently combined to develop a nomogram for predicting the risk of in-hospital mortality in individual patients. Finally, the receiver operating characteristic curve and calibrate plot were utilized to verify the performance of the nomogram. Results: This study included 80 adult patients with KPM, 58 (72.5%) of whom were males. The mortality rate was 45%. Among them, 74 (92.5%) were diagnosed with healthcare-associated meningitis. Thirty-seven carbapenem-resistant Klebsiella pneumoniae (CRKP) strains were susceptible to tigecycline, polymyxin, and ceftazidime/avibactam. CRKP (OR = 9.825, 95%CI = 2.757-35.011, P < 0.001), length of stay (OR = 0.953, 95%CI = 0.921-0.986, P = 0.005), and C-reactive protein-to-prealbumin ratio (CRP/PA, OR = 3.053, 95%CI = 1.329-7.016, P = 0.009) were identified as predictive factors for mortality using multivariate logistic regression. Finally, a nomogram for death prediction was established. The area under the curve of this nomogram was 0.900 (95% CI = 0.828-0.971). Conclusions: KPM is a fatal disease associated with high incidence of healthcare-associated infections and carbapenem resistance. Moreover, CRKP, length of stay, and CRP/PA were found to be independent predictors of mortality.

12.
Skin Res Technol ; 30(4): e13624, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38558219

ABSTRACT

Chronic urticaria (CU) is characterized by persistent skin hives, redness, and itching, enhanced by immune dysregulation and inflammation. Our main objective is identifying key genes and molecular mechanisms of chronic urticaria based on bioinformatics. We used the Gene Expression Omnibus (GEO) database and retrieved two GEO datasets, GSE57178 and GSE72540. The raw data were extracted, pre-processed, and analyzed using the GEO2R tool to identify the differentially expressed genes (DEGs). The samples were divided into two groups: healthy samples and CU samples. We defined cut-off values of log2 fold change ≥1 and p < .05. Analyses were performed in the Kyoto Encyclopaedia of Genes and Genomes (KEGG), the Database for Annotation, Visualization and Integrated Discovery (DAVID), Metascape, Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) and CIBERSOFT databases. We obtained 1613 differentially expressed genes. There were 114 overlapping genes in both datasets, out of which 102 genes were up-regulated while 12 were down-regulated. The biological processes included activation of myeloid leukocytes, response to inflammations, and response to organic substances. Moreover, the KEGG pathways of CU were enriched in the Nuclear Factor-Kappa B (NF-kB) signaling pathway, Tumor Necrosis Factor (TNF) signaling pathway, and Janus kinase/signal transducers and activators of transcription (JAK-STAT) signaling pathway. We identified 27 hub genes that were implicated in the pathogenesis of CU, such as interleukin-6 (IL-6), Prostaglandin-endoperoxide synthase 2 (PTGS2), and intercellular adhesion molecule-1 (ICAM1). The complex interplay between immune responses, inflammatory pathways, cytokine networks, and specific genes enhances CU. Understanding these mechanisms paves the way for potential interventions to mitigate symptoms and improve the quality of life of CU patients.


Subject(s)
Chronic Urticaria , Gene Expression Profiling , Humans , Gene Expression Profiling/methods , Quality of Life , Inflammation , Computational Biology/methods
14.
Phytomedicine ; 128: 155533, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38552433

ABSTRACT

BACKGROUND: Ferroptosis and mitochondria-mediated apoptosis are both involved in the pathogenesis of acute liver failure (ALF). Ferroptosis-produced reactive oxygen species (ROS) trigger the chain oxidation of polyunsaturated phospholipids and promote mitochondrial apoptosis. Dihydroquercetin (DHQ) also plays an important protective role against liver injury. PURPOSE: Here, we aimed to investigate the protective effects of DHQ on ALF. We also explored the underlying mechanism. METHODS: We established a Lipopolysaccharide (LPS)/D-galactosamine (D-Gal)-induced ALF mouse model and tumor necrosis factor-α (TNF-α)/D-Gal-induced ALF LO2 cell model. 2',7'-Dichlorofluorescein diacetate (DCFH-DA) and Dihydroethidium (DHE) were used to detect total ROS levels. Lipid ROS was assessed using C11-BODIPY flow cytometry. Lipid peroxidative products levels were detected using MDA ELISA assay and 4-hydroxynonenal (4-HNE) immunohistochemistry. QRT-PCR and western blots were used to test mRNA and protein expression levels, respectively. Cell viability was evaluated with CCK8 assay, and apoptosis was analyzed using flow cytometry. RESULTS: DHQ treatment improved LPS/D-Gal-induced ALF, as well as TNF-α/D-Gal-induced reductions in LO2 viability and increased sirtuin 1 (SIRT1) expression. DHQ pretreatment also reduced the accumulation of ROS, reduced lipid peroxidation, elevated mitochondrial membrane potentials (ΔΨm), and decreased liver cell apoptosis both in vivo and in vitro. Additionally, the knockdown of SIRT1 and p53 activator (Tenovin-6) treatment reversed DHQ's inhibitory effects on ferroptosis and mitochondria-mediated apoptosis in vitro. DHQ enhanced p53 deacetylation by both up-regulating SIRT1 expression and directly bonding to SIRT1. We also found that Tenovin-6's stimulatory effects on ferroptosis and mitochondria-mediated apoptosis in the DHQ-treated LO2 ALF cell model were partially attenuated by overexpression of solute carrier family 7member 11 (SLC7A11), as well as by apoptotic protease activating factor 1 (Apaf-1) knockdown. CONCLUSION: Our results suggest that DHQ alleviated ALF by inhibiting both ferroptosis and mitochondria-mediated apoptosis by regulating the SIRT1/p53 axis. Thus, DHQ may serve as a novel therapy for ALF.


Subject(s)
Apoptosis , Ferroptosis , Liver Failure, Acute , Quercetin , Sirtuin 1 , Tumor Suppressor Protein p53 , Animals , Humans , Male , Mice , Apoptosis/drug effects , Cell Line , Disease Models, Animal , Ferroptosis/drug effects , Galactosamine , Lipid Peroxidation/drug effects , Lipopolysaccharides , Liver Failure, Acute/drug therapy , Liver Failure, Acute/chemically induced , Mice, Inbred C57BL , Mitochondria/drug effects , Mitochondria/metabolism , Quercetin/pharmacology , Quercetin/analogs & derivatives , Reactive Oxygen Species/metabolism , Sirtuin 1/metabolism , Tumor Necrosis Factor-alpha/metabolism , Tumor Suppressor Protein p53/metabolism
15.
Sci Rep ; 14(1): 5366, 2024 03 04.
Article in English | MEDLINE | ID: mdl-38438509

ABSTRACT

In this report, we described a new technique of gasless V-NOTES for hysterectomy and salpingectomy on a robotic platform with flexible devices in a porcine model. As a result, the gynecological procedures were successfully completed. The total operative time was 110 min, while the docking time was 10 min. The estimated blood loss was estimated to be 10 mL with no intraoperative complications. It revealed that gasless V-NOTES for hysterectomy and salpingectomy on a robotic platform with flexible devices appeared to be feasible and safe in the porcine model and has the potential for clinical use in human beings.


Subject(s)
Natural Orifice Endoscopic Surgery , Robotics , Humans , Female , Swine , Animals , Hysterectomy , Salpingectomy , Intraoperative Complications
16.
Heliyon ; 10(6): e27199, 2024 Mar 30.
Article in English | MEDLINE | ID: mdl-38515655

ABSTRACT

Background: Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) is a rare mitochondrial disease caused by mutations in the GTPBP3 gene. The rare incidence of the disease and the high clinical heterogeneity pose challenges in making a precise diagnosis. Investigations into the rare COXPD23 patients are of pathophysiological and etiological value. In this study, we investigated the genotype-phenotype relationship in a COXPD23 patient from a Manchu family, with GTPBP3 mutations. Methods: Routine physical examinations, laboratory assays and imaging analyses were performed. The metabolic profiles of amino acids in blood, acylcarnitine in blood and organic acids in urine were used to determine the presence of inherited metabolic diseases. Genetic variations in the family were investigated using whole-exome sequencing and Sanger sequencing. Splicing disruption by a mutation was predicted and verified using a minigene assay. Results: The patient presented with severe lactic acidosis, neurological symptoms, multiple symmetrical lesions in the brain and serious mitochondrial energy metabolism disturbances. The c.689A > C (p.Q230P) and c.809-1_809delinsA compound heterozygous mutations were detected in GTPBP3. The novel c.809-1_809delinsA mutation was located at the splicing site of exon 7 and intron 6 and multiple tools predicted that it would disrupt the normal splicing. The minigene assay proved that the novel mutation resulted in two aberrant transcripts that created premature termination codons. Conclusions: The clinical manifestations, brain imaging change, mitochondrial metabolism disturbances and the detection and validation of the GTPBP3 mutations expand the profile of COXPD23 and the pathogenic mutation spectrum. Our study improves the understanding of the pathophysiology and etiology of COXPD23.

17.
Huan Jing Ke Xue ; 45(3): 1415-1427, 2024 Mar 08.
Article in Chinese | MEDLINE | ID: mdl-38471857

ABSTRACT

To explore the spatial and temporal distribution characteristics of heavy metals in the surface sediments of lakes in cold regions during ice-sealing and non-ice-sealing periods, we analyzed the potential ecological risk degree and the pollution sources. A total of 20 sampling sites in Lake Ulansuhai in cold regions were collected from 2020 to 2021, and 120 surface sediment samples were collected during different periods. The contents of As, Cd, Cr, Cu, Ni, Pb, Zn, and Hg were determined. Correlation analysis, principal component analysis, and the absolute factor score-multiple linear regression (APCS-MLR) receptor model were used to trace the source of heavy metal pollution. The results showed that:① the distribution of heavy metals in lake surface sediments was different between the ice-sealing period and the non-ice-sealing period. The distribution of heavy metals during the ice-sealing period was higher in the north and lower in the south. Cd and Hg were mainly distributed in the central and southern lakes during the non-glacial period. ② Hg, Cd, and As were moderately polluted, and Ni was mildly polluted in the surface sediments of the lake. The overall performance was at a high risk level, and the pollution level during the non-ice-sealing period was higher than that during the ice-sealing period. The main environmental risk factors were Hg and Cd, which showed high risk and moderate risk, respectively. ③ The sources of heavy metals in lake surface sediments were mainly industrial sources from mining and transportation, agricultural sources, and natural sources. As, Ni, Pb, and Hg were mainly affected by industrial sources, with contribution rates of 62.67%, 75.31%, 77.47%, and 80.11%, respectively. The main sources of Cu and Zn were natural sources, and Cd was greatly affected by agricultural sources. The contribution rate was 81.57%. The source of Cr was mainly affected by natural factors, and the influence of human activities and unknown sources require further attention.

18.
Int J Surg ; 110(5): 2865-2873, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38329065

ABSTRACT

BACKGROUND: Radical inguinal lymph node dissection (rILND) is the most available treatment to cure penile cancer (PC) with limited inguinal-confined disease. However, guidelines regarding acceptable boundaries of rILND are controversial, and consensus is lacking. The authors aimed to standardize the surgical boundaries of rILND with definite pathological evidence and explore the distribution pattern of inguinal lymph nodes (ILNs) in PC. METHODS: A total of 414 PC patients from two centers who underwent rILND were enrolled. The ILN distribution was divided into seven zones anatomically for pathological examination. Student's t test and Kaplan-Meier survival analysis were used. RESULTS: ILNs displayed a funnel-shaped distribution with high density in superior regions. ILNs and metastatic nodes are present anywhere within the radical boundaries. Positive ILNs were mainly concentrated in zone I (51.7%) and zone II (41.3%), but there were 8.7% and 12.3% in inferior zones V and VI, respectively, and 7.1% in the deep ILNs. More importantly, a single positive ILN and first-station positive zone was detected in all seven regions. Single positive ILNs were located in zones I through VI in 40.4%, 23.6%, 6.7%, 18.0%, 4.5%, and 1.1%, respectively, and 5.6% presented deep ILN metastasis directly. CONCLUSIONS: The authors established a detailed ILN distribution map and displayed lymphatic drainage patterns with definite pathological evidence using a large cohort of PC patients. Single positive ILNs and first-station metastatic zones were observed in any region, even directly with deep ILN metastasis. Only rILND can ensure tumor-free resection without the omission of positive nodes.


Subject(s)
Inguinal Canal , Lymph Node Excision , Lymph Nodes , Lymphatic Metastasis , Penile Neoplasms , Humans , Male , Penile Neoplasms/surgery , Penile Neoplasms/pathology , Lymph Node Excision/methods , Retrospective Studies , Middle Aged , Aged , Inguinal Canal/surgery , Inguinal Canal/pathology , Lymph Nodes/pathology , Lymph Nodes/surgery , Adult , Cohort Studies
19.
Sci Total Environ ; 920: 170761, 2024 Apr 10.
Article in English | MEDLINE | ID: mdl-38340830

ABSTRACT

This study aimed to measure the exposure of the elderly to per- and polyfluoroalkyl substances (PFAS) and explore their effects on thyroid hormone levels. A cross-sectional study of plasma samples from 746 elderly people (aged >60 years) from Taiyuan, China was conducted. Fourteen PFASs were determined using liquid chromatography-tandem mass spectrometry and five thyroid function indicators, thyroid-stimulating hormone (TSH), thyroxine (T4), triiodothyronine (T3), free T4 (FT4), and free T3 (FT3), using an enzyme-linked immunoassay. Descriptive analysis was used to investigate PFC exposure and the toxic equivalent quantity (TEQ) was used to calculate the transthyretin (TTR)-disrupting toxicity of combined exposure to PFAS. Linear additive and multiple linear regression models were used to explore the relationship between PFAS and hormones, using PFC concentration as quartiles and continuous variables. Among the PFAS identified, 12 PFASs had detection rates >80 %, with perfluorooctanesulfonic acid (PFOS) and perfluorooctanoic acid (PFOA) having the highest concentrations. Perfluorodecanoic acid (PFDA), PFOS, and perfluorononanoic acid (PFNA) were negatively correlated with TSH levels and each interquartile range (IQR) concentration increase caused a reduction in TSH levels by 2.14 %, 1.78 %, and 3.04 %, respectively. Perfluorotridecanoic acid (PFTrA) and perfluoropentanoic acid (PFPA) were positively correlated with T4 and T3 levels, respectively, and levels increased by 4.52 % (T4) and 1.14 % (T3) with IQR concentration increase. Perfluorobutanoic acid (PFBA) was negatively correlated with FT4 levels, which decreased by 1.89 % with IQR concentration increase. A negative correlation was found between the combined exposure indices of TEQ and TSH levels; IQR increase in TEQ decreased the TSH concentration by 1.91 %. In conclusion, exposure to PFAS was common in the elderly population and was associated with decreased TSH and FT4 levels and increased T4 and T3 levels. These results indicated that PFASs may cause thyroid-disrupting effects in the elderly population.


Subject(s)
Alkanesulfonic Acids , Environmental Pollutants , Fluorocarbons , Aged , Humans , Cross-Sectional Studies , Thyroid Gland , Thyroid Hormones , Thyrotropin
20.
J Reprod Immunol ; 162: 104210, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38359619

ABSTRACT

Extracellular vesicles (EVs) are small membrane-bound particles secreted by various cell types that play a critical role in intercellular communication by packaging and delivering biomolecules. In recent years, EVs have emerged as essential messengers in mediating physiological and pathological processes in tumor biology. The tumor microenvironment (TME) plays a pivotal role in tumor generation, progression, and metastasis. In this review, we provide an overview of the impact of tumor-derived EVs on both tumor cells and the TME. Moreover, we draw parallels between tumor biology and pregnancy, as successful embryo implantation also requires intricate intercellular communication between the placental trophecepiblast and the endometrial epithelium. Additionally, we discuss the involvement of EVs in targeting immune responses, trophoblast invasion, migration, and angiogenesis, which are shared biological processes between tumors and pregnancy. Specifically, we highlight the effects of placenta-derived EVs on the fetal-maternal interface, placenta, endometrium, and maternal system, as well as the role of endometrium-derived EVs in embryo-endometrial communication. However, challenges still exist in EVs research, including the standardization of EVs isolation methods for diagnostic testing, which also apply to reproductive systems where EVs-mediated communication is proposed to take place. Through this review, we aim to deepen the understanding of EVs, particularly in the context of reproductive biology, and encourage further investigation in this field.


Subject(s)
Extracellular Vesicles , Placenta , Pregnancy , Humans , Female , Extracellular Vesicles/metabolism , Embryo Implantation/physiology , Endometrium/metabolism , Biology
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