Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 6.044
Filtrar
1.
Methods Mol Biol ; 2854: 171-175, 2025.
Artículo en Inglés | MEDLINE | ID: mdl-39192128

RESUMEN

Phagocytosis is a central process by which macrophage cells internalize and eliminate microbes as well as apoptotic cells. The nascent phagosome undergoes a complex maturation process involving sequential fusion with endosomal compartments. The endosomal TLRs, including TLR3, -7, -8, and -9, play a critical role in innate immunity by sensing bacterial or viral nucleic acids and are preferentially transported to the phagosomal membrane of innate immune cells upon activation. Therefore, phagosome isolation is helpful for studies on pathogenic invasion and the functions of phagosome proteins, including endosomal TLRs.


Asunto(s)
Fagosomas , Receptores Toll-Like , Fagosomas/metabolismo , Receptores Toll-Like/metabolismo , Animales , Fagocitosis , Ratones , Humanos , Inmunidad Innata , Macrófagos/metabolismo , Macrófagos/inmunología
2.
J Med Biochem ; 43(4): 378-386, 2024 Jun 15.
Artículo en Inglés | MEDLINE | ID: mdl-39139152

RESUMEN

Background: It aims to explore the effect of target task-oriented phase training on fibrinogen (Fbg), angiopoietin (Ang-1), vascular endothelial growth factor (VEGF), serum brain-derived neurotrophic factor (BDNF), and quality of life in post-operative patients with brain trauma. Methods: 142 patients with brain trauma who were operated on in neurosurgery of our hospital from March 2020 to March 2023 were chosen and separated into two groups by random number table. The control group (n=71) received routine post-operative training. The experimental group (n=71) received target task-oriented training based on the control group, and the serum cell levels of nursing for 3, 7, and 14 days were compared. Improvement of limb function and quality of life after 2, 4, and 6 weeks of nursing care is observed.

3.
Heliyon ; 10(15): e35098, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-39165981

RESUMEN

Graphitic carbon nitride (g-C3N4) has been extensively investigated over the past decade for its potential utilizations in photocatalytic energy generation and pollutant degradation. To better meeting the requirements for practical utilizations, it is crucial to address the issue of poor charge separation properties in g-C3N4, which origin from the strong interactions in photogenerated electron-hole pairs. In this review, we summarized the pertinent studies on developing strategies to promote the charge separation properties of g-C3N4. The strategies can be categorized into two categories of promoting the surface migration of charge carriers and prolonging the lifetime of surface charge. Finally, we present potential challenges in promoting charge separation and offer feasible suggestions to face these challenges.

4.
Microbiome ; 12(1): 147, 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39113097

RESUMEN

BACKGROUND: Understanding the cause vs consequence relationship of gut inflammation and microbial dysbiosis in inflammatory bowel diseases (IBD) requires a reproducible mouse model of human-microbiota-driven experimental colitis. RESULTS: Our study demonstrated that human fecal microbiota transplant (FMT) transfer efficiency is an underappreciated source of experimental variability in human microbiota-associated (HMA) mice. Pooled human IBD patient fecal microbiota engrafted germ-free (GF) mice with low amplicon sequence variant (ASV)-level transfer efficiency, resulting in high recipient-to-recipient variation of microbiota composition and colitis severity in HMA Il-10-/- mice. In contrast, mouse-to-mouse transfer of mouse-adapted human IBD patient microbiota transferred with high efficiency and low compositional variability resulting in highly consistent and reproducible colitis phenotypes in recipient Il-10-/- mice. Engraftment of human-to-mouse FMT stochastically varied with individual transplantation events more than mouse-adapted FMT. Human-to-mouse FMT caused a population bottleneck with reassembly of microbiota composition that was host inflammatory environment specific. Mouse-adaptation in the inflamed Il-10-/- host reassembled a more aggressive microbiota that induced more severe colitis in serial transplant to Il-10-/- mice than the distinct microbiota reassembled in non-inflamed WT hosts. CONCLUSIONS: Our findings support a model of IBD pathogenesis in which host inflammation promotes aggressive resident bacteria, which further drives a feed-forward process of dysbiosis exacerbated by gut inflammation. This model implies that effective management of IBD requires treating both the dysregulated host immune response and aggressive inflammation-driven microbiota. We propose that our mouse-adapted human microbiota model is an optimized, reproducible, and rigorous system to study human microbiome-driven disease phenotypes, which may be generalized to mouse models of other human microbiota-modulated diseases, including metabolic syndrome/obesity, diabetes, autoimmune diseases, and cancer. Video Abstract.


Asunto(s)
Modelos Animales de Enfermedad , Disbiosis , Trasplante de Microbiota Fecal , Microbioma Gastrointestinal , Enfermedades Inflamatorias del Intestino , Interleucina-10 , Animales , Humanos , Ratones , Enfermedades Inflamatorias del Intestino/microbiología , Disbiosis/microbiología , Interleucina-10/genética , Colitis/microbiología , Heces/microbiología , Colon/microbiología , Ratones Noqueados , Ratones Endogámicos C57BL , Femenino , Bacterias/clasificación , Bacterias/genética , Bacterias/aislamiento & purificación , Inflamación , Masculino
5.
Urol Case Rep ; 56: 102810, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39157017

RESUMEN

To describe a rare case of left adrenal Castleman disease (CD), splenomegaly, and cirrhosis. An examination revealed a left adrenal mass for more than three months, the patient, 44, was well-prepared for surgery after her left adrenal tumor was removed laparoscopically using a retroperitoneal approach, her postoperative pathology suggested that she had Castleman disease of the adrenal glands, and there had been no metastasis or recurrence during the six-month follow-up period. We have evaluated linked literature reports in this article, reporting relevant clinical knowledge regarding the disease and synthesizing previous research, in an effort to increase our understanding of it.

6.
Infect Drug Resist ; 17: 3519-3525, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39157748

RESUMEN

Background: Osteonecrosis is a common complication, particularly in HIV-infected patients undergoing long-term glucocorticoid therapy. This case report aims to highlight the unique "map-like" magnetic resonance imaging (MRI) changes observed in an HIV-positive patient with multiple osteonecrosis due to glucocorticoid overdose, emphasizing the importance of recognizing and managing this complication in this high-risk population. Case Presentation: A 29-year-old HIV-positive male patient developed extensive multi-joint osteonecrosis involving 7 joint sites (right shoulder, bilateral hips, bilateral knees, and bilateral ankles) after 6 months of high-dose glucocorticoid treatment for an opportunistic pneumonia associated with his HIV status. The patient required prolonged glucocorticoid therapy to manage the severe lung infection. MRI revealed characteristic "map-like" changes, with the osteonecrotic areas distributed in a linear, clustered, or map-like pattern. To alleviate his condition and improve joint function, the patient underwent a customized treatment plan, including total hip replacement for the left hip, core decompression surgery for the right hip. Following surgical intervention, the patient experienced reduced joint pain and improved joint mobility. Conclusion: This case underscores the potential risk of extensive multi-joint osteonecrosis in HIV-positive patients receiving long-term high-dose glucocorticoids, with the "map-like" MRI changes being a distinctive imaging feature. It emphasizes the importance of close monitoring and timely implementation of effective interventions in this high-risk population. Notably, core decompression surgery can improve local blood circulation, slow disease progression, and serve as an effective minimally invasive treatment option for early-stage osteonecrotic lesions.

7.
J Vis Exp ; (209)2024 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-39141527

RESUMEN

The topical elastase murine model of abdominal aortic aneurysm (AAA) is enhanced when combined with ß-aminopropionitrile (BAPN)-supplemented drinking water to reliably produce true infrarenal aneurysms with behaviors that mimic human AAAs. Topically applying elastase to the adventitia of the infrarenal aorta causes structural damage to the elastic layers of the aortic wall and initiates aneurysmal dilation. Co-administering BAPN, a lysyl oxidase inhibitor, promotes sustained wall degeneration by reducing collagen and elastin crosslinking. This combination results in large AAAs that progressively expand, form intraluminal thrombus, and are capable of rupture. Refining surgical techniques, such as circumferentially isolating the entire infrarenal aortic segment, can help standardize the procedure for a consistent and thorough application of porcine pancreatic elastase despite different operators and anatomic variations between mice. Therefore, the elastase/BAPN model is a refined approach to surgically inducing AAA in mice, which may better recapitulate human aneurysms and provide additional opportunities to study aneurysm growth and rupture risk.


Asunto(s)
Aminopropionitrilo , Aneurisma de la Aorta Abdominal , Modelos Animales de Enfermedad , Elastasa Pancreática , Animales , Elastasa Pancreática/administración & dosificación , Aneurisma de la Aorta Abdominal/patología , Aminopropionitrilo/administración & dosificación , Ratones , Administración Oral , Administración Tópica , Masculino
8.
Future Med Chem ; : 1-17, 2024 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-39145469

RESUMEN

Aim: Build a virtual screening model for ULK1 inhibitors based on artificial intelligence. Materials & methods: Build machine learning and deep learning classification models and combine molecular docking and biological evaluation to screen ULK1 inhibitors from 13 million compounds. And molecular dynamics was used to explore the binding mechanism of active compounds. Results & conclusion: Possibly due to less available training data, machine learning models significantly outperform deep learning models. Among them, the Naive Bayes model has the best performance. Through virtual screening, we obtained three inhibitors with IC50 of µM level and they all bind well to ULK1. This study provides an efficient virtual screening model and three promising compounds for the study of ULK1 inhibitors.


[Box: see text].

9.
Front Pharmacol ; 15: 1421635, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39148543

RESUMEN

Introduction: Angong Niuhuang Wan (AGNHW), developed during the Qing dynasty (18th century) for the treatment of consciousness disturbances caused by severe infections, has been used to treat brain edema caused by ischemia‒reperfusion. However, it remains unclear whether AGNHW can ameliorate vascular-origin brain edema caused by lipopolysaccharides (LPS). This study explored the ameliorative effects of AGNHW on LPS-induced cerebrovascular edema in mice, as well as the potential underlying mechanisms. Methods: A cerebrovascular edema model was established in male C57BL/6N mice by two intraperitoneal injections of LPS (15 mg/kg), at 0 and 24 h. AGNHW was administered by gavage at doses of 0.2275 g/kg, 0.455 g/kg, and 0.91 g/kg, 2 h after LPS administration. In control mice, normal saline (NS) or AGNHW (0.455 g/kg) was administered by gavage 2 h after intraperitoneal injection of NS. The survival rate, cerebral water content, cerebral venous FITC-dextran leakage, Evans blue extravasation, and expression of vascular endothelial cadherin (VE-cadherin), zonula occludens-1 (ZO-1), claudin-5, phosphorylated caveolin-1 (CAV-1), and cytomembrane and cytoplasmic aquaporin 1 (AQP1) and aquaporin 4 (AQP4) were evaluated. The cerebral tissue phosphoproteome, blood levels of AGNHW metabolites, and the relationships between these blood metabolites and differentially phosphorylated proteins were analyzed. Results: AGNHW inhibited the LPS-induced decrease in survival rate, increase in cerebral water content, decrease in VE-Cadherin expression and increase in phosphorylated CAV-1 (P-CAV-1). AGNHW treatment increased the expression of AQP4 on astrocyte membrane after LPS injection. AGNHW also inhibited the LPS-induced increases in the phosphorylation of 21 proteins, including protein kinase C-α (PKC-α) and mitogen-activated protein kinase 1 (MAPK1), in the cerebral tissue. Eleven AGNHW metabolites were detected in the blood. These metabolites might exert therapeutic effects by regulating PKC-α and MAPK1. Conclusion: AGNHW can ameliorate cerebrovascular edema caused by LPS. This effect is associated with the inhibition of VE-Cadherin reduction and CAV-1 phosphorylation, as well as the upregulation of AQP4 expression on the astrocyte membrane, following LPS injection.

10.
Angew Chem Int Ed Engl ; : e202411598, 2024 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-39150042

RESUMEN

As a promising gene therapy strategy, controllable small molecule-mRNA covalent modification in tumor cells could be initiated by singlet oxygen (1O2) to complete the modification process. However, in vivo generation of 1O2 is usually dependent on excitation of external light, and the limited light penetration of tissues greatly interferes the development of deep tumor phototherapy. Here, we constructed a tumor-targeting nano-micelle for the spontaneous intracellular generation of 1O2 without the need for external light, and inducing a high level of covalent modification of mRNA in tumor cells. Luminal and Ce6 were chemically bonded to produce 1O2 by chemiluminescence resonance energy transfer (CRET) triggered by high levels of hydrogen peroxide (H2O2) in the tumor microenvironment. The sufficient 1O2 oxidized the loaded furan to highly reactive dicarbonyl moiety, which underwent cycloaddition reaction with adenine (A), cytosine (C) or guanine (G) on the mRNA for interfering with the tumor cell protein expression, thereby inhibiting tumor progression. In vitro and in vivo experiments demonstrated that this self-initiated gene therapy nano-micelle could induce covalent modification of mRNA by 1O2 without external light, and the process could be monitored in real time by fluorescence imaging, which provided an effective strategy for RNA-based tumor gene therapy.

11.
Opt Lett ; 49(15): 4250-4253, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39090906

RESUMEN

A joint constellation shaping (JCS) three-dimensional (3D) 16-ary modulation scheme constructed with a pair of common-bottomed trigonal cones (CBTC) as primitives is proposed. Compared to the 3D traditional constellation (TC) and the 3D geometric constellation shaping (GS) structure previously proposed by our group (GGS), the constellation figure of merit (CFM) is improved by 0.3906 and 0.0097, respectively. Meanwhile, probabilistic shaping (PS) is employed to optimize the 3D-CBTC-16CAP constellation structure for the second time to enhance the CFM of the constellation further. Compared to the 3D-CBTC-16CAP, after PS the 3D-JCS-16CAP has a CFM improvement of 0.5014. Experiments are carried out to transmit the signals across a 2 km seven-core fiber. At the bit error rate (BER) threshold ∼3.8 × 10-3, the 3D-CBTC-16CAP scheme demonstrates an improvement in the receiver sensitivity by 0.76 and 0.39 dB compared with 3D-TC-16CAP and 3D-GGS-16CAP. In addition, the transmission effect of the signals after joint PS is verified. Experiments show that the proposed 3D-JCS-16CAP scheme has the most significant enhancement effect when used in conjunction with PS, and the receiver sensitivity is improved by about 0.97 and 0.34 dB compared with the 3D-JTC-16CAP (3D-TC-16CAP signal after joint PS) and 3D-JGGS-16CAP (3D-GGS-16CAP signal after the joint PS).

12.
Front Bioeng Biotechnol ; 12: 1420100, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39104628

RESUMEN

In recent decades, there has been ongoing development in the application of computer vision (CV) in the medical field. As conventional contact-based physiological measurement techniques often restrict a patient's mobility in the clinical environment, the ability to achieve continuous, comfortable and convenient monitoring is thus a topic of interest to researchers. One type of CV application is remote imaging photoplethysmography (rPPG), which can predict vital signs using a video or image. While contactless physiological measurement techniques have an excellent application prospect, the lack of uniformity or standardization of contactless vital monitoring methods limits their application in remote healthcare/telehealth settings. Several methods have been developed to improve this limitation and solve the heterogeneity of video signals caused by movement, lighting, and equipment. The fundamental algorithms include traditional algorithms with optimization and developing deep learning (DL) algorithms. This article aims to provide an in-depth review of current Artificial Intelligence (AI) methods using CV and DL in contactless physiological measurement and a comprehensive summary of the latest development of contactless measurement techniques for skin perfusion, respiratory rate, blood oxygen saturation, heart rate, heart rate variability, and blood pressure.

13.
Eur J Med Chem ; 277: 116745, 2024 Aug 03.
Artículo en Inglés | MEDLINE | ID: mdl-39106659

RESUMEN

In response to the escalating threat of microbial resistance, a series of novel pleuromutilin derivatives, conjugated with phenyl-sulfide and boron-containing moieties, were designed and synthesized. Most derivatives, especially 14b and 16b, demonstrated significant efficacy against Gram-positive bacteria, including multidrug-resistant strains, as well as pleuromutilin-resistant strains. Compound 16b showed high stability in the liver microsomes of rats and humans, along with acceptable tolerance in vitro and in vivo. Additionally, compound 16b exhibited promising efficacy in MRSA-infected mouse models. Our data highlight the potential of conjugated pleuromutilin derivatives as valuable agents against drug-resistant bacteria.

14.
Stroke Vasc Neurol ; 2024 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-39107097

RESUMEN

BACKGROUND: GD-11, a novel brain cytoprotective drug, was designed to be actively taken up and transported across the blood-brain barrier via the glucose transporter. This study aimed to evaluate the safety and efficacy of GD-11 for improving the recovery of patients with acute ischaemic stroke (AIS). METHODS: A double-blind, randomised, placebo-controlled, phase 2 trial was conducted at 15 clinical sites in China. Patients aged 18-80 years with AIS within 48 hours were randomly assigned (1:1:1) to receive 160 mg GD-11, 80 mg GD-11 and placebo, two times a day for 10 days. The primary endpoint was a modified Rankin Scale (mRS) score of 0-1 at 90 days after treatment. The safety outcome was any adverse events within 90 days. RESULTS: From 17 November 2022 to 22 March 2023, a total of 80 patients in the 160 mg GD-11 group, 79 patients in the 80 mg GD-11 group and 80 patients in the placebo group were included. The proportion of an mRS score of 0-1 at day 90 was 77.5% in the 160 mg GD-11 group, 72.2% in the 80 mg GD-11 group and 67.5% in the placebo group. Though no significant difference was found (p=0.3671), a numerically higher proportion was observed in the GD-11 group, especially in the 160 mg GD-11 group. The incidence of adverse events was similar across the three groups (p=0.1992). CONCLUSION: GD-11 was safe and well-tolerated. A dosage of GD-11 160 mg two times a day was recommended for a large trial to investigate the efficacy.

15.
World J Clin Cases ; 12(22): 5151-5158, 2024 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-39109014

RESUMEN

BACKGROUND: The common cause of sodium nitrite poisoning has shifted from previous accidental intoxication by exposure or ingestion of contaminated water and food to recent alarming intentional intoxication as an employed method of suicide/exit. The subsequent formation of methemoglobin (MetHb) restricts oxygen transport and utilization in the body, resulting in functional hypoxia at the tissue level. In clinical practice, a mismatch of cyanotic appearance and oxygen partial pressure usually contributes to the identification of methemoglobinemia. Prompt recognition of characteristic mismatch and accurate diagnosis of sodium nitrite poisoning are prerequisites for the implementation of standardized systemic interventions. CASE SUMMARY: A pregnant woman was admitted to the Department of Critical Care Medicine at the First Affiliated Hospital of Harbin Medical University due to consciousness disorders and drowsiness 2 h before admission. Subsequently, she developed vomiting and cyanotic skin. The woman underwent orotracheal intubation, invasive mechanical ventilation (IMV), and correction of internal environment disturbance in the ICU. Her premature infant was born with a higher-than-normal MetHb level of 3.3%, and received detoxification with methylene blue and vitamin C, supplemental vitamin K1, an infusion of fresh frozen plasma, as well as respiratory support via orotracheal intubation and IMV. On day 3 after admission, the puerpera regained consciousness, evacuated the IMV, and resumed enteral nutrition. She was then transferred to the maternity ward 24 h later. On day 7 after admission, the woman recovered and was discharged without any sequelae. CONCLUSION: MetHb can cross through the placental barrier. Level of MetHb both reflects severity of the sodium nitrite poisoning and serves as feedback on therapeutic effectiveness.

16.
Diabetes Obes Metab ; 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39113250

RESUMEN

AIM: To investigate the effect of G protein-coupled receptor 55 (GPR55) deletion on glucose homeostasis and islet function following diet-induced obesity. METHODS: GPR55-/- and wild-type (WT) mice were fed ad libitum either standard chow (SC) or a high-fat diet (HFD) for 20 weeks. Glucose and insulin tolerance tests were performed at 9/10 and 19/20 weeks of dietary intervention. Insulin secretion in vivo and dynamic insulin secretion following perifusion of isolated islets were also determined, as were islet caspase-3/7 activities and ß-cell 5-bromo-20-deoxyuridine (BrdU) incorporation. RESULTS: GPR55-/- mice fed a HFD were more susceptible to diet-induced obesity and were more glucose intolerant and insulin resistant than WT mice maintained on a HFD. Islets isolated from HFD-fed GPR55-/- mice showed impaired glucose- and pcacahorbol 12-myristate 13-acetate-stimulated insulin secretion, and they also displayed increased cytokine-induced apoptosis. While there was a 5.6 ± 1.6-fold increase in ß-cell BrdU incorporation in the pancreases of WT mice fed a HFD, this compensatory increase in ß-cell proliferation in response to the HFD was attenuated in GPR55-/- mice. CONCLUSIONS: Under conditions of diet-induced obesity, GPR55-/- mice show impaired glucose handling, which is associated with reduced insulin secretory capacity, increased islet cell apoptosis and insufficient compensatory increases in ß-cell proliferation. These observations support that GPR55 plays an important role in positively regulating islet function.

17.
Sci Rep ; 14(1): 18035, 2024 08 04.
Artículo en Inglés | MEDLINE | ID: mdl-39098964

RESUMEN

To increase the efficiency of phytoremediation to clean up heavy metals in soil, assisted with alternating current (AC) electric field technology is a promising choice. Our experiments utilized the hyperaccumulator Sedum alfredii Hance and the fast-growing, high-biomass willow (Salix sp.). We investigated the efficiency of AC field combined with S. alfredii-willow intercropping for removing Cd from soils with different pH values. In the AC electric field treatment with S. alfredii-willow intercropping, the available Cd content in acidic soil increased by 50.00% compared to the control, and in alkaline soil, the increase was 100.00%. Furthermore, AC electric field promoted Cd uptake by plants in both acidic and alkaline soils, with Cd accumulation in the aboveground increased by 20.52% (P < 0.05) and 11.73%, respectively. In conclusion, the integration of AC electric fields with phytoremediation demonstrates significant favorable effectiveness.


Asunto(s)
Biodegradación Ambiental , Cadmio , Electricidad , Sedum , Contaminantes del Suelo , Suelo , Cadmio/metabolismo , Contaminantes del Suelo/metabolismo , Concentración de Iones de Hidrógeno , Sedum/metabolismo , Sedum/crecimiento & desarrollo , Suelo/química , Salix/metabolismo
18.
BMC Ophthalmol ; 24(1): 327, 2024 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-39107704

RESUMEN

BACKGROUND: Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1. METHODS: We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants. Clinical assessments included Best Corrected Visual Acuity (BCVA), visual field testing, Spectral Domain Optical Coherence Tomography (SD-OCT), multifocal Electroretinograms (mfERGs), and microperimetry. Next-generation sequencing was utilised for genetic analysis. RESULTS: The OMD patients displayed a range of phenotypic variability. Most (5 out of 7) had the RP1L1 variant c.133 C > T; p.R45W, associated with central vision loss and specific patterns in SD-OCT and mfERG. Two patients exhibited different RP1L1 variants (c.3599G > T; p.G1200V and c.2880G > C; p.W960C), presenting milder phenotypes. SD-OCT revealed photoreceptor layer changes, with most patients showing decreased mfERG responses in the central rings. Interestingly, a unique case of VMD linked to the RP1L1 variant was observed, distinct from traditional OMD presentations. CONCLUSIONS: This study highlights the phenotypic diversity within OMD and the broader spectrum of RP1L1-associated macular dystrophies, including a novel association with VMD. The findings emphasise the complexity of RP1L1 variants in determining clinical manifestations, underscoring the need for comprehensive genetic and clinical evaluations in macular dystrophies.


Asunto(s)
Electrorretinografía , Proteínas del Ojo , Proteínas Asociadas a Microtúbulos , Tomografía de Coherencia Óptica , Agudeza Visual , Distrofia Macular Viteliforme , Humanos , Masculino , Femenino , Tomografía de Coherencia Óptica/métodos , Adulto , Persona de Mediana Edad , Proteínas del Ojo/genética , Agudeza Visual/fisiología , Distrofia Macular Viteliforme/genética , Distrofia Macular Viteliforme/fisiopatología , Distrofia Macular Viteliforme/diagnóstico , Proteínas Asociadas a Microtúbulos/genética , Campos Visuales/fisiología , China/epidemiología , Adulto Joven , Pruebas del Campo Visual , Linaje , Adolescente , Fenotipo , Mutación , Degeneración Macular/genética , Degeneración Macular/diagnóstico , Degeneración Macular/fisiopatología , Pueblo Asiatico/genética , Anciano , Pueblos del Este de Asia
19.
Clin Neurol Neurosurg ; 245: 108514, 2024 Aug 17.
Artículo en Inglés | MEDLINE | ID: mdl-39173490

RESUMEN

OBJECTIVES: Clinically isolated syndrome (CIS) is a preclinical phase of multiple sclerosis (MS). The progression rate of CIS to clinical definite MS (CDMS) varies significantly across different populations, and identifying predictors of progression is crucial for early diagnosis and treatment. We aimed to investigate predictors of progression from CIS to CDMS in a Chinese cohort. METHODS: A single-center cohort study was conducted with newly diagnosed patients with CIS in China between 2018 and 2021. All patients underwent a comprehensive clinical evaluation, including neurological examination, magnetic resonance imaging, and laboratory tests. Follow-up assessments were conducted at regular intervals to monitor disease progression. Progression to CDMS was defined according to the 2017 McDonald criteria. Age, sex, Expanded Disability Status Scale (EDSS) score, number of patients with magnetic resonance imaging gadolinium-enhancing (Gd+) lesions, T2 lesions and Gd+ lesions count, CSF cell count, CSF total protein, CSF and serum neurofilament light chain (NfL), progranulin (PGRN) and Th17-related cytokines (IL-6, IL-17, IL-21, IL-22, IL-23 and TGF-ß) were measured for association with risk of progression to CDMS. RESULTS: A total of 96 CIS patients were recruited in the study. During the at least 24 months follow-up period, 57 (59.38 %) CIS patients progressed to CDMS, while 39 (40.62 %) patients without progression remained stable as CIS. Multivariate analysis revealed that younger age at onset (OR= 43.43, 95 % CI= 1.76-1071.68, p<0.021), higher CSF elevated protein (OR=58.64, 95 % CI=2.72-1264.51, p=0.009), higher CSF NfL levels (OR= 97.00, 95 % CI= 4.68-2012.99, p=0.003) and higher CSF IL-23 levels (OR= 412.02, 95 % CI=6.56-25869.60, p=0.004) were associated with high risk of progression to CDMS. CONCLUSION: Younger age at onset, elevated CSF NfL, IL-23 and protein levels might be progression predictors of CIS to CDMS in Chinese population.

20.
Technol Health Care ; 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39177622

RESUMEN

BACKGROUND: Accurately identifying the branches of pulmonary segmental vessels and bronchi, as well as adjacent structures, and determining the spatial location of lesions within pulmonary segments, are major challenges for thoracic surgeons. The application of three-dimensional reconstruction technology holds promise in addressing this issue. OBJECTIVE: To evaluate the clinical value of three-dimensional reconstruction in thoracoscopic segmental surgery. METHODS: Seventy-seven patients who underwent thoracoscopic segmental surgery combined with three-dimensional reconstruction at our hospital from January 1, 2020, to August 31, 2023, were retrospectively analyzed. Preoperative chest enhanced CT scans were conducted, and MIMICS software aided in reconstructing DICOM format original data for patients with pulmonary nodules to facilitate intraoperative nodule localization. Accurate segmental pneumonectomy was performed by comparing preoperative anatomical identification of target segmental arteries, veins, and bronchi, with surgical details and postoperative outcomes recorded, including intraoperative pulmonary resection distribution, operation time, blood loss, chest tube drainage, extubation time, hospital stay, and complications. RESULTS: Following preoperative three-dimensional reconstruction, successful segmental lung surgeries were performed, predominantly with single segmental resection (92.2%), and a minority with combined segmentectomy (7.8%). Median operation time was 130225 minutes, with intraoperative blood loss at 70100 mL and postoperative chest tube drainage at 347 mL (159690 mL). Median extubation time and hospital stay were 4 days and 7 days, respectively. Complications within the 3-month follow-up affected 11.7% of cases, including persistent pulmonary leakage (7.1%), pulmonary infection (4.3%), atelectasis (4.3%), and pleural effusion (1.4%), with no fatalities. CONCLUSION: Preoperative 3D reconstruction can help the operator to perform safe, efficient and accurate thoracoscopic segmental pneumonectomy, which is worth popularizing in clinic.

SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...