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1.
Acad Radiol ; 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39095262

RESUMEN

RATIONALE AND OBJECTIVES: This study aimed to employ deep learning techniques to analyze and validate an automatic prognostic biomarker for predicting outcomes following intracerebral hemorrhage (ICH). MATERIALS AND METHODS: This study included patients with ICH whose onset-to-imaging time (OIT) was less than 6 h. Patients were randomly divided into training and test sets at a 7:3 ratio. Using the Resnet50 deep learning method, we extracted features from the hematoma and perihematomal edema (PHE) areas and constructed a 90-day prognosis prediction model using logistic regression. To evaluate predictive efficacy and clinical significance, we employed logistic regression to train three models: Clinical, Deep Score, and the combined Clinical-Deep Learning (Merge). RESULTS: Our study comprised 1098 patients (652 male, 446 female), with a mean Glasgow Coma Scale (GCS) score of 10. Univariate and multivariate analyses identified age, intraventricular hemorrhage (IVH), hematoma and PHE volume, and admission GCS score as independent prognostic factors. Additionally, 15 deep learning features were retained through LASSO regression. In the training set, the AUC values for the three models were as follows: Clinical model (0.88), Deep Score (0.91), and Merge model (0.94). In the test set, the Merge model exhibited a significantly higher AUC value than the other models. Calibration curves revealed satisfactory calibration of the Merge model nomogram in both training and test sets. CONCLUSION: Our Merge model nomogram is an objective and effective prognostic tool, offering personalized risk assessments for 90-day functional outcomes in patients with ICH.

2.
Int J Biol Macromol ; : 134005, 2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-39053819

RESUMEN

With the increasing consumption of organic solvents in chemical and pharmaceutical industries, the environment pollution of volatile organic compounds (VOCs) has become an urgent problem. Therefore, the rapid-visual detection method is of great significance in the analysis of VOCs. Based on the fluorescence quenching/enhancement mechanism of carbon quantum dots (CQDs), with the help of carboxymethyl cellulose membrane with porous and large specific surface area structure, a series of green CQDs@carboxymethyl cellulose composite film (CQDs@CMC composite film) was prepared in this study. In the typical-targeted pollutants (toluene) detection application, a fluorescence spectroscopy method was established which could achieve the high sensitivity and strong specificity detection. The mainly conclusions were as follows: The fluorescence spectrometric detection method for toluene: A kind of hydrophobic Lmi/Bet CQDs@CMC composite film was prepared and characterized with imidazole/betaine CQDs and porous carboxymethyl cellulose composite film as raw materials. The toluene detection performance was studied, and the recognition mechanism was explored. The results showed that toluene enhanced the fluorescence of Lmi/Bet CQDs@CMC composite film. The fluorescence intensity of composite films was proportional to toluene concentration when the toluene concentration ranged from 200 to 2200 mg/L. The detection limit of toluene was 1.169 mg/L, which provides a theoretical basis for the detection of toluene by fluorescence spectrometry.

3.
ACS Appl Mater Interfaces ; 16(29): 38586-38605, 2024 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-38984525

RESUMEN

Novel reprocessable thermosetting adhesives (RTAs), which combine high adhesive strength, reusability, disassembly, and recyclability features, have attracted increasing attention. However, developing RTAs with a rapidly adhesive rate while ensuring high adhesive strength and self-healing ability is still a significant challenge. Here, we prepared a novel vitrimer called DAx-DTSAy, which can be used as an RTA. First, by adjusting the ratio of rigid and flexible segments, maximum tensile strength reached 35.92 MPa. Second, the combined effect of dynamic hydroxyl ester bonds and dynamic disulfide bonds resulted in a rapid stress relaxation behavior, with a complete relaxation time 13.6 times shorter than a vitrimer only cross-linked with hydroxy ester bonds. This feature endowed its good self-healing and reprocessing capabilities. After self-healing at 180 °C, the maximum healing rate of mechanical properties was 91.8%. After three reprocesses, the maximum recovery rate of tensile strength was 120.2%. Furthermore, the combination of rigid and flexible segments and the synergistic effect of dual dynamic covalent bonds made DAx-DTSAy capable of use as a high-performance RTA. The lap shear strength of a DAx-DTSAy film on stainless steel reached 18.18 MPa after 15 min, with a recovery rate of 91.9% after 5 rebonding cycles. Additionally, DAx-DTSAy can be disassembled in chemical agents and exhibited better insulation properties compared to traditional epoxy resins. DAx-DTSAy can be employed as a novel high-performance adhesive in applications such as electronic devices and transportation, contributing to the development of thermosetting adhesives toward recyclability and sustainability.

4.
BMC Plant Biol ; 24(1): 652, 2024 Jul 09.
Artículo en Inglés | MEDLINE | ID: mdl-38982365

RESUMEN

BACKGROUND: Protein phosphatase class 2 C (PP2C) is the largest protein phosphatase family in plants. Members of the PP2C gene family are involved in a variety of physiological pathways in plants, including the abscisic acid signalling pathway, the regulation of plant growth and development, etc., and are capable of responding to a wide range of biotic and abiotic stresses, and play an important role in plant growth, development, and response to stress. Apocynum is a perennial persistent herb, divided into Apocynum venetum and Apocynum hendersonii. It mainly grows in saline soil, deserts and other harsh environments, and is widely used in saline soil improvement, ecological restoration, textiles and medicine. A. hendersonii was found to be more tolerant to adverse conditions. The main purpose of this study was to investigate the PP2C gene family and its expression pattern under salt stress and to identify important candidate genes related to salt tolerance. RESULTS: In this study, 68 AvPP2C genes and 68 AhPP2C genes were identified from the genomes of A. venetum and A. hendersonii, respectively. They were classified into 13 subgroups based on their phylogenetic relationships and were further analyzed for their subcellular locations, gene structures, conserved structural domains, and cis-acting elements. The results of qRT-PCR analyses of seven AvPP2C genes and seven AhPP2C genes proved that they differed significantly in gene expression under salt stress. It has been observed that the PP2C genes in A. venetum and A. hendersonii exhibit different expression patterns. Specifically, AvPP2C2, 6, 24, 27, 41 and AhPP2C2, 6, 24, 27, 42 have shown significant differences in expression under salt stress. This indicates that these genes may play a crucial role in the salt tolerance mechanism of A. venetum and A. hendersonii. CONCLUSIONS: In this study, we conducted a genome-wide analysis of the AvPP2C and AhPP2C gene families in Apocynum, which provided a reference for further understanding the functional characteristics of these genes.


Asunto(s)
Apocynum , Filogenia , Apocynum/genética , Regulación de la Expresión Génica de las Plantas , Familia de Multigenes , Proteína Fosfatasa 2C/genética , Proteína Fosfatasa 2C/metabolismo , Fosfoproteínas Fosfatasas/genética , Fosfoproteínas Fosfatasas/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Genoma de Planta , Tolerancia a la Sal/genética , Genes de Plantas , Perfilación de la Expresión Génica
5.
Front Endocrinol (Lausanne) ; 15: 1403893, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38952386

RESUMEN

This report describes a case of concomitant diabetic ketoacidosis (DKA) and thyroid storm (TS) in a 20-year-old male patient that presented both diagnostic and management challenges owing to their intricate interrelationship in endocrine-metabolic disorders. The patient, previously diagnosed with type 1 diabetes mellitus (T1DM) and hyperthyroidism, was admitted to the emergency department with symptoms of DKA and progressive exacerbation of TS. Initial treatment focused on correcting DKA; as the disease progressed to TS, it was promptly recognized and treated. This case emphasizes the rarity of simultaneous occurrence of DKA and TS, as well as the challenges in clinical diagnosis posed by the interacting pathophysiological processes and overlapping clinical manifestations of DKA and TS. The patient's treatment process involved multiple disciplines, and after treatment, the patient's critical condition of both endocrine metabolic diseases was alleviated, after which he recovered and was eventually discharged from the hospital. This case report aims to emphasize the need for heightened awareness in patients with complex clinical presentations, stress the possibility of concurrent complications, and underscore the importance of prompt and collaborative treatment strategies.


Asunto(s)
Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Crisis Tiroidea , Humanos , Masculino , Cetoacidosis Diabética/complicaciones , Cetoacidosis Diabética/terapia , Crisis Tiroidea/complicaciones , Crisis Tiroidea/terapia , Crisis Tiroidea/diagnóstico , Adulto Joven , Diabetes Mellitus Tipo 1/complicaciones
6.
Artículo en Inglés | MEDLINE | ID: mdl-38835132

RESUMEN

BACKGROUND: Guigan longmu decoction (GGLM), a traditional Chinese medicine compound, has demonstrated efficacy in treating rapid arrhythmia clinically. Nevertheless, its mechanism of action remains elusive. This study aims to elucidate the molecular mechanism underlying the efficacy of GGLM in treating arrhythmia utilizing non-targeted metabolomics, widely-targeted metabolomics, and network pharmacology, subsequently validated through animal experiments. METHODS: Initially, network pharmacology analysis and widely-targeted metabolomics were performed on GGLM. Subsequent to that, rats were administered GGLM intervention, and nontargeted metabolomics assays were utilized to identify metabolites in rat plasma postadministration. The primary signaling pathways, core targets, and key active ingredients of GGLM influencing arrhythmia were identified. Additionally, to validate the therapeutic efficacy of GGLM on arrhythmia rat models, a rat model of rapid arrhythmia was induced via subcutaneous injection of isoproterenol, and alterations in pertinent pathogenic pathways and proteins in the rat model were assessed through qRT-PCR and Western blot following GGLM administration. RESULTS: The results of network pharmacology showed that 99 active ingredients in GGLM acted on 249 targets and 201 signaling pathways, which may be key to treating arrhythmia. Widelytargeted metabolic quantification analysis detected a total of 448 active ingredients in GGLM, while non-targeted metabolomics identified 279 different metabolites and 10 major metabolic pathways in rats. A comprehensive analysis of the above results revealed that the core key active ingredients of GGLM in treating arrhythmia include calycosin, licochalcone B, glabridin, naringenin, medicarpin, formononetin, quercetin, isoliquiritigenin, and resveratrol. These active ingredients mainly act on the relevant molecules and proteins upstream and downstream of the MAPK pathway to delay the onset of arrhythmia. Animal experimental results showed that the heart rate of rats in the model group increased significantly, and the mRNA and protein expression of p38, MAPK, JNK, ERK, NF-kb, IL-1ß, and IL-12 in myocardial tissue also increased significantly. However, after intervention with GGLM, the heart rate of rats in the drug group decreased significantly, while the mRNA and protein expression of p38 MAPK, JNK, ERK1, NF-kb, IL-1ß, and IL-12 in myocardial tissue decreased significantly. CONCLUSION: GGLM, as an adjunctive therapy in traditional Chinese medicine, exhibits favorable therapeutic efficacy against arrhythmia. This can be attributed to the abundant presence of bioactive compounds in the formulation, including verminin, glycyrrhizin B, glabridine, naringenin, ononin, quercetin, isorhamnetin, and kaempferol. The metabolites derived from these active ingredients have the potential to mitigate myocardial inflammation and decelerate heart rate by modulating the expression of proteins associated with the MAPK signaling pathway in vivo.

7.
Curr Med Imaging ; 2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38874027

RESUMEN

BACKGROUND: Accurate identification of vascular lumen region founded the base of bubble detection and bubble grading, which played a significant role in the detection of vascular gas emboli for the diagnosis of decompression sickness. OBJECTIVES: To assist in the detection of vascular bubbles, it is crucial to develop an automatic algorithm that could identify vascular lumen areas in ultrasound videos with the interference of bubble presence. METHODS: This article proposed an automated vascular lumen region recognition (VLRR) algorithm that could sketch the accurate boundary between vessel lumen and tissues from dynamic 2D ultrasound videos. It adopts 2D ultrasound videos of the lumen area as input and outputs the frames with circled vascular lumen boundary of the videos. Normalized cross-correlation method, distance transform technique, and region growing technique were adopted in this algorithm. Results A double-blind test was carried out to test the recognition accuracy of the algorithm on 180 samples in the images of 6 different grades of bubble videos, during which, intersection over union and pixel accuracy were adopted as evaluation metrics. The average IOU on the images of different bubble grades reached 0.76. The mean PA on 6 of the images of bubble grades reached 0.82. CONCLUSION: It is concluded that the proposed method could identify the vascular lumen with high accuracy, potentially applicable to assist clinicians in the measurement of the severity of vascular gas emboli in clinics.

8.
Technol Health Care ; 2024 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-38848204

RESUMEN

BACKGROUND: Despite the considerable progress made in preventative methods, medication, and interventional therapies, it remains evident that cardiovascular events (CVEs) continue to be the primary cause of both death and morbidity among individuals diagnosed with coronary artery disease (CAD). OBJECTIVE: To compare the connection between lipoprotein a (Lp[a]), fibrinogen (Fib), and both parameters combined with all-cause mortality to detect their value as prognostic biomarkers. METHODS: This is a retrospective study. Patients diagnosed with CAD between January 2007 and December 2020 at the Guangdong Provincial People's Hospital (China) were involved in the study. 43,367 patients met the eligibility criteria. The Lp(a) and Fib levels were distributed into three tertile groups (low, medium, and high). All of the patients included in the study were followed up for all-cause mortality. Kaplan-Meier and Cox regression were performed to determine the relationship between Lp(a), Fib, and all-cause mortality. A concordance statistics model was developed to detect the impact of Fib and Lp(a) in terms of anticipating poor outcomes in patients with CAD. RESULTS: Throughout a median follow-up of 67.0 months, 6,883 (15.9%) patients died. Participants with high Lp(a) (above 27.60 mg/dL) levels had a significantly higher risk for all-cause mortality than individuals with low Lp(a) levels (below 11.13 mg/dL; adjusted hazard ratio [aHR] 1.219, 95% confidence interval [CI]: 1.141-1.304, p< 0.001). Similarly, patients with high Fib levels (above 4.32 g/L) had a significantly greater risk of developing all-cause mortality compared with those with reduced Fib levels (below 3.41 g/L; aHR 1.415, 95% CI: 1.323-1.514, p< 0.001). Patients with raised Lp(a) and Fib levels had the maximum risk for all-cause mortality (aHR 1.702; 95% CI: 1.558-1.859, p< 0.001). When considered together, Lp(a) and Fib caused a significant elevation of the concordance statistic by 0.009 (p< 0.05), suggesting a higher value for predicting mortality when combining the two indicators. CONCLUSION: High Lp(a) and Fib levels could be used as predictive biomarkers for all-cause mortality in individuals with CAD. The prediction accuracy for all-cause mortality improved after combining the two parameters.

9.
Nanoscale ; 16(26): 12492-12501, 2024 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-38888749

RESUMEN

The surface electronic structure and morphology of catalysts have a crucial impact on the electrocatalytic hydrogen evolution reaction performance. This work reports on the fabrication of a Ru-doped WP/WP2 heterojunction nanosheet array electrode via a one-step phosphating treatment of a Ru-doped WO3 precursor. Benefitting from the large electrochemical active surface of nanosheet arrays, rich WP/WP2 heterojunction interface, and trace Ru atom doping, the catalyst has a fairly low overpotential of 58.0 mV at 10 mA cm-2 and a Tafel slope of 50.71 mV dec-1 in acid solution toward the electrocatalytic HER. Further, theoretical calculations unveil that Ru atom doping and interface effect synergistically optimized the electronic structure of the catalyst and hence weakened the adsorption capacity of the catalyst surface toward hydrogen (H), which lowered the Gibbs free energy (ΔGH*) and consequently effectively improved the HER performance. This work may open new avenues for developing advanced nanoarray electrodes with efficient electrochemical energy conversion.

10.
BMC Nurs ; 23(1): 445, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38943099

RESUMEN

BACKGROUND: In the cultural milieu of China, family caregivers assume a pivotal role in the post-adolescent suicide attempt recovery journey. Nevertheless, they frequently encounter a dearth of requisite knowledge and information pertaining to the appropriate caregiving protocols for these adolescents. Notwithstanding, scholarly investigation into the informational requisites of this demographic concerning caregiving remains significantly constrained. METHODS: Between September and December 2023, a phenomenological approach was applied in qualitative research. Semi-structured interviews were undertaken with 15 family caregivers of adolescents who had experienced suicide attempts. The amassed data underwent systematic organization and analysis through the utilization of the Colaizzi method. RESULTS: Four primary themes were identified: (1) negative emotional encounters; (2) requirements for addressing dilemmas; (3) addressing the needs of the unknown; and (4) insufficient access to support. CONCLUSIONS: Family caregivers experience complex negative emotions upon learning about a teenager's suicide attempt. Throughout the caregiving process, they face numerous challenges, with apparent lack of external support, leading to an increased urgent need for caregiving information. Healthcare professionals, especially nurses, should actively identify and respond to the informational needs of family caregivers when caring for adolescents who have attempted suicide. This includes providing education on various coping mechanisms and support strategies, as well as assisting them in better understanding how to effectively manage the stress and challenges of caregiving. By doing so, healthcare professionals can help alleviate the psychological and emotional burden on family caregivers, thereby enhancing their caregiving abilities and overall well-being.

11.
Microorganisms ; 12(5)2024 Apr 24.
Artículo en Inglés | MEDLINE | ID: mdl-38792681

RESUMEN

Previous investigations have illuminated the significant association between the gut microbiome and a broad spectrum of health conditions, including obesity, diabetes, cardiovascular diseases, and psychiatric disorders. Evidence from certain studies suggests that dysbiosis of the gut microbiota may play a role in the etiology of obesity and diabetes. Moreover, it is acknowledged that dietary habits, pharmacological interventions, psychological stress, and other exogenous factors can substantially influence the gut microbial composition. For instance, a diet rich in fiber has been demonstrated to increase the population of beneficial bacteria, whereas the consumption of antibiotics can reduce these advantageous microbial communities. In light of the established correlation between the gut microbiome and various pathologies, strategically altering the gut microbial profile represents an emerging therapeutic approach. This can be accomplished through the administration of probiotics or prebiotics, which aim to refine the gut microbiota and, consequently, mitigate the manifestations of associated diseases. The present manuscript evaluates the recent literature on the relationship between gut microbiota and metabolic syndrome published over the past three years and anticipates future directions in this evolving field.

12.
Curr Eye Res ; : 1-12, 2024 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-38813818

RESUMEN

PURPOSE: To assess the safety and efficacy of the dry eye intelligent therapeutic device in rabbits with meibomian gland dysfunction. METHODS: The meibomian gland dysfunction-afflicted rabbits were subjected to treatment using the dry eye intelligent therapeutic device. Various parameters, including eyelid margin, meibomian gland opening, redness, meibomian gland area, keratoconjunctival fluorescence staining, and intraocular pressure, were examined and analyzed using an ocular surface comprehensive examination instrument, slit lamp, and tonometer at corresponding times points. Hematoxylin and eosin staining was performed to examine the mucosal epithelium and meibomian gland. RESULTS: In this study, eyelid margin congestion and meibomian gland opening obstruction were significantly improved after 3 weeks and 4 weeks of treatment, respectively (p < .01, p < .05). The treatment group showed a significant increase in tear meniscus height after 2 weeks, 3 weeks and 4 weeks of treatment (p < .001, p < .01, p < .05). No significant changes were noted in meibomian gland area, redness, intraocular pressure, and keratoconjunctival fluorescence staining of rabbits before and after treatment. Hematoxylin and eosin staining revealed a complete structure of mucosal epithelium and meibomian gland in the treatment group and that the expansion of the blocked meibomian gland duct was reduced. CONCLUSION: The utilization of the dry eye intelligent therapeutic device in treating meibomian gland dysfunction-afflicted rabbits exhibits potential promising safety, efficacy, and overall benefits, thereby offering a novel alternative for managing meibomian gland dysfunction patients in clinical settings.

13.
Ther Adv Neurol Disord ; 17: 17562864241254895, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38813520

RESUMEN

Myasthenia gravis (MG) is an autoimmune disorder characterized by fluctuating muscle weakness. Severe patients may develop life-threatening respiratory failure and experience crisis. Plasma exchange or intravenous immunoglobulin (IVIg) is the first-line treatment option for myasthenia crisis, but some patients still poorly respond to them. Here, we first reported a generalized MG patient from China who was in a state of impending myasthenic crisis and did not respond effectively to IVIg but was successfully rescued by add-on efgartigimod. Especially, we also detected meaningful changes in T-cell and B-cell subsets after efgartigimod, promoting a potential role of efgartigimod in re-establishing immune homeostasis.

14.
Reprod Domest Anim ; 59(5): e14583, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38747479

RESUMEN

Testosterone, an important sex hormone, regulates sexual maturation, testicular development, spermatogenesis and the maintenance of secondary sexual characteristics in males. Testicular Leydig cells are the primary source of testosterone production in the body. Hezuo pigs, native to the southern part of Gansu, China, are characterized by early sexual maturity, strong disease resistance and roughage tolerance. This study employed type IV collagenase digestion combined with cell sieve filtration to isolate and purify Leydig cells from the testicular tissue of 1-month-old Hezuo pigs. We also preliminarily investigated the functions of these cells. The results indicated that the purity of the isolated and purified Leydig cells was as high as 95%. Immunofluorescence analysis demonstrated that the isolated cells specifically expressed the 3ß-hydroxysteroid dehydrogenase antibody. Enzyme-linked immunosorbent assay results showed that the testosterone secretion of the Leydig cells cultured in vitro (generations 5-9) ranged between 1.29-1.67 ng/mL. Additionally, the content of the cellular autophagy signature protein microtubule-associated protein 1 light chain 3 was measured at 230-280 pg/mL. Through this study, we established an in vitro system for the isolation, purification and characterization of testicular Leydig cells from 1-month-old Hezuo pigs, providing a reference for exploring the molecular mechanism behind precocious puberty in Hezuo pigs.


Asunto(s)
Células Intersticiales del Testículo , Testosterona , Animales , Masculino , Células Intersticiales del Testículo/metabolismo , Testosterona/metabolismo , Porcinos , Testículo/citología , Células Cultivadas , Técnicas de Cultivo de Célula/veterinaria , Separación Celular/métodos , Separación Celular/veterinaria
15.
BMC Med Genomics ; 17(1): 142, 2024 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-38790056

RESUMEN

Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, sparse scalp hair and varying kind of congenital anomalies. CSS can easily be misdiagnosed as other syndromes or disorders with a similar clinical picture because of their genetic and phenotypic heterogeneity. We describde the genotype-phenotype correlation of one patient from a healthy Chinese family with a novel genotype underlying CSS, who was first diagnosed in the ophthalmology department as early-onset high myopia (eoHM). Comprehensive ophthalmic tests as well as other systemic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. Real-time quantitative PCR (RT-qPCR) technology was used to detect the relative mRNA expression levels of candidate genes between proband and normal family members. The pathogenicity of the identified variant was determined by The American College of Medical Genetics and Genomics (ACMG) guidelines. STRING protein-protein interactions (PPIs) network analysis was used to detect the interaction of candidate gene-related proteins with high myopia gene-related proteins. The patient had excessive eoHM, cone-rod dystrophy, coarse face, excessive hair growth on the face, sparse scalp hair, developmental delay, intellectual disability, moderate hearing loss, dental hypoplasia, patent foramen ovale, chronic non-atrophic gastritis, bilateral renal cysts, cisterna magna, and emotional outbursts with aggression. The genetic assessment revealed that the patient carries a de novo heterozygous frameshift insertion variant in the ARID1B c.3981dup (p.Glu1328ArgfsTer5), which are strongly associated with the typical clinical features of CSS patients. The test results of RT-qPCR showed that mRNA expression of the ARID1B gene in the proband was approximately 30% lower than that of the normal control in the family, suggesting that the variant had an impact on the gene function at the level of mRNA expression. The variant was pathogenic as assessed by ACMG guidelines. Analysis of protein interactions in the STRING online database revealed that the ARID1A protein interacts with the high myopia gene-related proteins FGFR3, ASXL1, ERBB3, and SOX4, whereas the ARID1A protein antagonizes the ARID1B protein. Therefore, in this paper, we are the first to report a de novo heterozygous frameshift insertion variant in the ARID1B gene causing CSS with excessive eoHM. Our study extends the genotypic and phenotypic spectrums for ARID1B-CSS and supplies evidence of significant association of eoHM with variant in ARID1B gene. As CSS has high genetic and phenotypic heterogeneity, our findings highlight the importance of molecular genetic testing and an interdisciplinary clinical diagnostic workup to avoid misdiagnosis as some disorders with similar manifestations of CSS.


Asunto(s)
Proteínas de Unión al ADN , Cara , Deformidades Congénitas de la Mano , Discapacidad Intelectual , Micrognatismo , Miopía , Cuello , Linaje , Factores de Transcripción , Humanos , Discapacidad Intelectual/genética , Factores de Transcripción/genética , Cara/anomalías , Masculino , Micrognatismo/genética , Femenino , Deformidades Congénitas de la Mano/genética , Miopía/genética , Proteínas de Unión al ADN/genética , Cuello/anomalías , Cuello/patología , Anomalías Múltiples/genética , Adulto , Pueblo Asiatico/genética , Estudios de Asociación Genética , China , Fenotipo , Secuenciación del Exoma , Mutación , Pueblos del Este de Asia
16.
Int Immunopharmacol ; 134: 112275, 2024 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-38759373

RESUMEN

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease mediated by pathogenic antibodies produced by abnormally activated B cells, resulting in neuromuscular junction transmission dysfunction. Interleukin-41 (IL-41) is a novel immunomodulatory cytokine that has been implicated in various metabolic, inflammatory, and autoimmune diseases. The role of IL-41 in MG is still unclear up to now, our study aimed to investigate the level of IL-41 in MG patients and its correlation with clinical features and inflammatory indicators. METHODS: Totally, 60 MG patients and 30 healthy controls (HC) were recruited. Baseline data and laboratory parameters were routinely recorded through electronic medical systems. IL-41 levels were measured by enzyme-linked immunosorbent assay. Proportions of T-cell and B-cell subsets and natural killer cells were analyzed by flow cytometry. The correlation between serum IL-41 and MG related parameters was investigated, and the clinical value of IL-41 in the diagnosis of MG was evaluated by receiver operator characteristic curve (ROC) analysis. RESULTS: Serum IL-41 levels in MG patients were higher than in HC, and were higher in Myasthenia Gravis Foundation of America (MGFA) III + IV group than that in MGFA I + II group. Serum IL-41 was positively correlated with MG-specific activities of daily living scale (MG-ADL), MGFA classification, platelet to lymphocyte ratio (PLR), and proportion of CD19+ B cells, while it was negatively correlated with high-sensitive C-reactive protein (hs-CRP) and circulatory plasma cells in MG patients. Serum IL-41 levels increased in patients who were treated with efgartigimod during the first cycle of therapy. However, compared to disease initiation, serum IL-41 levels decreased when clinical features steadily improved. ROC analysis showed that IL-41 had a diagnostic value for MG. CONCLUSION: The present findings suggested that serum IL-41 was increased in MG patients and was positively associated with the severity of the disease. IL-41 may be essential to the immunopathological mechanism of MG and a potential biomarker for MG.


Asunto(s)
Biomarcadores , Miastenia Gravis , Índice de Severidad de la Enfermedad , Humanos , Miastenia Gravis/sangre , Miastenia Gravis/inmunología , Miastenia Gravis/diagnóstico , Masculino , Femenino , Adulto , Persona de Mediana Edad , Biomarcadores/sangre , Interleucinas/sangre , Adulto Joven
18.
Gene ; 920: 148495, 2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-38663690

RESUMEN

DEAD-box RNA helicases, a prominent subfamily within the RNA helicase superfamily 2 (SF2), play crucial roles in the growth, development, and abiotic stress responses of plants. This study identifies 146 DEAD-box RNA helicase genes (GhDEADs) and categorizes them into four Clades (Clade A-D) through phylogenetic analysis. Promoter analysis reveals cis-acting elements linked to plant responses to light, methyl jasmonate (MeJA), abscisic acid (ABA), low temperature, and drought. RNA-seq data demonstrate that Clade C GhDEADs exhibit elevated and ubiquitous expression across different tissues, validating their connection to leaf development through real-time quantitative polymerase chain reaction (RT-qPCR) analysis. Notably, over half of GhDEADs display up-regulation in the leaves of virus-induced gene silencing (VIGS) plants of GhVIR-A/D (members of m6A methyltransferase complex, which regulate leaf morphogenesis). In conclusion, this study offers a comprehensive insight into GhDEADs, emphasizing their potential involvement in leaf development.


Asunto(s)
ARN Helicasas DEAD-box , Regulación de la Expresión Génica de las Plantas , Gossypium , Filogenia , Proteínas de Plantas , Gossypium/genética , ARN Helicasas DEAD-box/genética , ARN Helicasas DEAD-box/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Hojas de la Planta/genética , Hojas de la Planta/metabolismo , Estrés Fisiológico/genética , Genoma de Planta , Regiones Promotoras Genéticas , Ácido Abscísico/metabolismo , Ácido Abscísico/farmacología
19.
Int J Hyperthermia ; 41(1): 2338542, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38684224

RESUMEN

OBJECTIVE: To investigate the changes in liver and kidney function, red blood cell (RBC) count and hemoglobin (HGB) levels in patients undergoing ultrasound-guided percutaneous microwave ablation (UPMWA) for uterine fibroids on postoperative day 1. METHODS: The changes in liver and kidney function, RBC count and HGB levels in 181 patients who underwent selective UPMWA in the Second Affiliated Hospital of Shantou University Medical College, China, between August 2017 and January 2023 were retrospectively analyzed. RESULTS: All patients underwent UPMWA for uterine fibroids; 179 patients had multiple uterine fibroids and 2 patients had single uterine fibroids. The maximum fibroid diameter ranged from 18 to 140 mm, with an average of 68.3 mm. Ultrasound imaging was used to confirm that the blood flow signal within the mass had disappeared in all patients, indicating that the ablation was effective. Within 24 h, compared with before UPMWA, levels of total bilirubin, direct bilirubin, indirect bilirubin and aspartate aminotransferase had significantly increased (p < 0.01), whereas levels of total protein, albumin, globulin, alanine aminotransferase, creatinine and urea had significantly decreased (p < 0.01). Acute kidney injury (AKI) occurred in 1 of the 181 patients. The RBC count and HGB levels decreased significantly after UPMWA (p < 0.01). CONCLUSION: Ultrasound-guided percutaneous microwave ablation for uterine fibroids can impose a higher detoxification load on the liver and cause thermal damage to and the destruction of RBCs within local circulation, potentially leading to AKI. Protein levels significantly decreased after UPMWA. Therefore, perioperative organ function protection measures and treatment should be actively integrated into clinical practice to improve prognosis and enhance recovery.


Asunto(s)
Hemoglobinas , Leiomioma , Humanos , Femenino , Leiomioma/cirugía , Leiomioma/sangre , Leiomioma/diagnóstico por imagen , Adulto , Persona de Mediana Edad , Hemoglobinas/metabolismo , Hemoglobinas/análisis , Recuento de Eritrocitos , Riñón/diagnóstico por imagen , Riñón/cirugía , Hígado/diagnóstico por imagen , Hígado/metabolismo , Hígado/cirugía , Estudios Retrospectivos , Microondas/uso terapéutico
20.
Radiol Imaging Cancer ; 6(3): e230167, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38607280

RESUMEN

Purpose To investigate the association of tumor arterial burden (TAB) on preoperative MRI with transarterial chemoembolization refractoriness (TACER) and progression-free survival (PFS) in patients with hepatocellular carcinoma (HCC). Materials and Methods This retrospective study included patients with HCC who underwent repeated transarterial chemoembolization (TACE) treatments between January 2013 and December 2020. HCC was confirmed with pathology or imaging, and patients with other tumors, lost follow-up, or with a combination of other treatments were excluded. TACER was defined as viable lesions of more than 50% or increase in tumor number after two or more consecutive TACE treatments, continuous elevation of tumor markers, extrahepatic spread, or vascular invasion. TAB assessed with preoperative MRI was divided into high and low groups according to the median. A Cox proportional hazards model was used to determine the predictors of TACER and PFS. Results A total of 355 patients (median age, 61 years [IQR, 54-67]; 306 [86.2%] men, 49 [13.8%] women) were included. During a median follow-up of 32.7 months, the high TAB group had significantly faster TACER and decreased PFS than the low TAB group (all log-rank P < .001). High TAB was the strongest independent predictor of TACER and PFS in multivariable Cox regression analyses (hazard ratio [HR], 2.23 [95% CI: 1.51, 3.29]; HR, 2.30 [95% CI: 1.61, 3.27], respectively), especially in patients with Barcelona Clinic Liver Cancer stage A or a single tumor. The restricted cubic spline plot demonstrated that the HR of TACER and PFS continuously increased with increasing TAB. Conclusion High preoperative TAB at MRI was a risk factor for faster refractoriness and progression in patients with HCC treated with TACE. Keywords: Interventional-Vascular, MR Angiography, Hepatocellular Carcinoma, Transarterial Chemoembolization, Progression-free Survival, MRI Supplemental material is available for this article. © RSNA, 2024.


Asunto(s)
Carcinoma Hepatocelular , Quimioembolización Terapéutica , Neoplasias Hepáticas , Masculino , Humanos , Femenino , Persona de Mediana Edad , Carcinoma Hepatocelular/diagnóstico por imagen , Carcinoma Hepatocelular/terapia , Neoplasias Hepáticas/diagnóstico por imagen , Neoplasias Hepáticas/terapia , Pronóstico , Estudios Retrospectivos , Imagen por Resonancia Magnética
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