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1.
Am J Hum Genet ; 111(7): 1370-1382, 2024 07 11.
Artículo en Inglés | MEDLINE | ID: mdl-38917801

RESUMEN

Extra-axial cavernous hemangiomas (ECHs) are complex vascular lesions mainly found in the spine and cavernous sinus. Their removal poses significant risk due to their vascularity and diffuse nature, and their genetic underpinnings remain incompletely understood. Our approach involved genetic analyses on 31 tissue samples of ECHs employing whole-exome sequencing and targeted deep sequencing. We explored downstream signaling pathways, gene expression changes, and resultant phenotypic shifts induced by these mutations, both in vitro and in vivo. In our cohort, 77.4% of samples had somatic missense variants in GNA14, GNAQ, or GJA4. Transcriptomic analysis highlighted significant pathway upregulation, with the GNAQ c.626A>G (p.Gln209Arg) mutation elevating PI3K-AKT-mTOR and angiogenesis-related pathways, while GNA14 c.614A>T (p.Gln205Leu) mutation led to MAPK and angiogenesis-related pathway upregulation. Using a mouse xenograft model, we observed enlarged vessels from these mutations. Additionally, we initiated rapamycin treatment in a 14-year-old individual harboring the GNAQ c.626A>G (p.Gln209Arg) variant, resulting in gradual regression of cutaneous cavernous hemangiomas and improved motor strength, with minimal side effects. Understanding these mutations and their pathways provides a foundation for developing therapies for ECHs resistant to current therapies. Indeed, the administration of rapamycin in an individual within this study highlights the promise of targeted treatments in treating these complex lesions.


Asunto(s)
Subunidades alfa de la Proteína de Unión al GTP Gq-G11 , Subunidades alfa de la Proteína de Unión al GTP , Humanos , Subunidades alfa de la Proteína de Unión al GTP Gq-G11/genética , Animales , Ratones , Femenino , Masculino , Subunidades alfa de la Proteína de Unión al GTP/genética , Mutación , Adulto , Persona de Mediana Edad , Transducción de Señal , Hemangioma Cavernoso/genética , Hemangioma Cavernoso/patología , Adolescente , Secuenciación del Exoma , Sirolimus/farmacología , Sirolimus/uso terapéutico , Serina-Treonina Quinasas TOR/metabolismo , Serina-Treonina Quinasas TOR/genética
2.
Proc Natl Acad Sci U S A ; 121(38): e2401175121, 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39250664

RESUMEN

Singlet oxygen (1O2) is important in the environmental remediation field, however, its efficient production has been severely hindered by the ultrafast self-quenching of the as-generated radical precursors in the Fenton-like reactions. Herein, we elaborately designed lamellar anthraquinone-based covalent organic frameworks (DAQ-COF) with sequential localization of the active sites (C═O) at molecular levels for visible-light-assisted peroxymonosulfate (PMS) activation. Theoretical and experimental results revealed that the radical precursors (SO5·-) were formed in the nearby layers with the migration distance less than 0.34 nm, via PMS donating electrons to the photogenerated holes. This interlayer synergistic effect eventually led to ultraefficient 1O2 production (14.8 µM s-1), which is 12 times that of the highest reported catalyst. As an outcome, DAQ-COF enabled the complete degradation of bisphenol A in 5 min with PMS under natural sunlight irradiation. This interlayer synergistic concept represents an innovative and effective strategy to increase the utilization efficiency of ultrashort-lived radical precursors, providing inspirations for subtle structural construction of Fenton-like catalysts.

3.
Proc Natl Acad Sci U S A ; 119(3)2022 01 18.
Artículo en Inglés | MEDLINE | ID: mdl-35017300

RESUMEN

The Fenton-like process catalyzed by metal-free materials presents one of the most promising strategies to deal with the ever-growing environmental pollution. However, to develop improved catalysts with adequate activity, complicated preparation/modification processes and harsh conditions are always needed. Herein, we proposed an ultrafast and facile strategy to convert various inefficient commercial nanocarbons into highly active catalysts by noncovalent functionalization with polyethylenimine (PEI). The modified catalysts could be in situ fabricated by direct addition of PEI aqueous solution into the nanocarbon suspensions within 30 s and without any tedious treatment. The unexpectedly high catalytic activity is even superior to that of the single-atom catalyst and could reach as high as 400 times higher than the pristine carbon material. Theoretical and experimental results reveal that PEI creates net negative charge via intermolecular charge transfer, rendering the catalyst higher persulfate activation efficiency.

4.
Angiogenesis ; 27(3): 441-460, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38700584

RESUMEN

Current treatments of brain arteriovenous malformation (BAVM) are associated with considerable risks and at times incomplete efficacy. Therefore, a clinically consistent animal model of BAVM is urgently needed to investigate its underlying biological mechanisms and develop innovative treatment strategies. Notably, existing mouse models have limited utility due to heterogenous and untypical phenotypes of AVM lesions. Here we developed a novel mouse model of sporadic BAVM that is consistent with clinical manifestations in humans. Mice with BrafV600E mutations in brain ECs developed BAVM closely resembled that of human lesions. This strategy successfully induced BAVMs in mice across different age groups and within various brain regions. Pathological features of BAVM were primarily dilated blood vessels with reduced vascular wall stability, accompanied by spontaneous hemorrhage and neuroinflammation. Single-cell sequencing revealed differentially expressed genes that were related to the cytoskeleton, cell motility, and intercellular junctions. Early administration of Dabrafenib was found to be effective in slowing the progression of BAVMs; however, its efficacy in treating established BAVM lesions remained uncertain. Taken together, our proposed approach successfully induced BAVM that closely resembled human BAVM lesions in mice, rendering the model suitable for investigating the pathogenesis of BAVM and assessing potential therapeutic strategies.


Asunto(s)
Malformaciones Arteriovenosas Intracraneales , Proteínas Proto-Oncogénicas B-raf , Animales , Malformaciones Arteriovenosas Intracraneales/genética , Malformaciones Arteriovenosas Intracraneales/patología , Malformaciones Arteriovenosas Intracraneales/metabolismo , Ratones , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas B-raf/metabolismo , Mutación/genética , Modelos Animales de Enfermedad , Humanos , Oximas/farmacología , Imidazoles/farmacología , Encéfalo/patología , Encéfalo/metabolismo , Encéfalo/irrigación sanguínea , Endotelio Vascular/patología , Endotelio Vascular/metabolismo , Ratones Transgénicos , Ratones Endogámicos C57BL
5.
Fish Shellfish Immunol ; 153: 109856, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39179186

RESUMEN

The ivory shell (Babylonia areolata) is one of the most promising high quality marine products. However, ivory shell is susceptible to Vibrio harveyi infection during the culture period. In this study, we investigated the biochemical indicators, histological changes and transcriptomic response in the hepatopancreas of ivory shells from the PBS control group (PC) and infection group (A3) with 1 × 109 CFU/mL V. harveyi after 24 h. Results showed that compared to the PC group, biochemical indicators, including malondialdehyde (MDA), reactive oxygen species (ROS), acid phosphatase (ACP), and Caspase 3 (Casp-3) were significantly increased (p < 0.05) in A3 group after V. harveyi infection for 24 h. Compared with the PC group, the hepatopancreas of A3 group were seriously damaged, the columnar epithelial cells of the tissue were enlarged, the space of digestive cells was increased, and vacuolar cavities appeared. A total of 95,581 unigenes were obtained and 2949 (1787 up-regulated and 1162 down-regulated) differential expressed genes (DEGs) were identified in the A3 group. GO and KEGG enrichment analysis showed that DEGs were mainly enriched in immune system process (GO:0002376), antioxidant activity (GO:0016209), lysosome (ko04142), toll and IMD signaling pathway (ko04624), and etc. These biological functions and pathways are associated with immune and inflammatory responses and apoptosis. 12 DEGs were randomly selected for real-time quantitative PCR (RT-qPCR) validation, and the expression profiles of these DEGs were consistent with the transcriptome data, confirming the accuracy and reliability of the transcriptome results. In summary, V. harveyi infection of ivory shells inducing oxidative stress, leading to severe hepatopancreatic damage, stimulating glutathione production to neutralize excessive ROS, and stimulating antimicrobial peptides production to counteract the deleterious effects of bacterial infection, which in turn modifying the immune and inflammatory response, ultimately resulting in apoptosis. This study provided valuable information to explore the immune regulation mechanism after V. harveyi infection and established molecular basis to support the prevention of V. harveyi infection.


Asunto(s)
Hepatopáncreas , Transcriptoma , Vibrio , Animales , Vibrio/fisiología , Hepatopáncreas/inmunología , Hepatopáncreas/patología , Inmunidad Innata/genética
6.
Int J Neurosci ; 133(5): 492-495, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-33931000

RESUMEN

BACKGROUND:  In the literature, filum terminale arteriovenous shunts (FTAVSs) always feature a single shunt point. Nidus-type FTAVSs have rarely been reported, and the best treatment strategy is unclear. This is a report of one exceptional case of a nidus-type FTAVS and surgical treatment of the lesion. CASE DESCRIPTION: The patient suffered from cauda equina syndrome for 9 months. Magnetic resonance imaging and spinal angiography revealed a nidus-type FTAVF at the L2 level. Surgical resection was performed in the hybrid operating room, and the nidus was completely resected with the assistance of intraoperative methylene blue angiography and neurophysiological monitoring. The postoperative neurological function was stable. CONCLUSIONS: A nidus-type arteriovenous shunt could originate from the FT, and in such cases, complete surgical resection with intraoperative neurophysiological monitoring in a hybrid operating room should be suggested.


Asunto(s)
Fístula Arteriovenosa , Cauda Equina , Humanos , Cauda Equina/diagnóstico por imagen , Cauda Equina/cirugía , Fístula Arteriovenosa/diagnóstico por imagen , Fístula Arteriovenosa/cirugía , Fístula Arteriovenosa/patología , Procedimientos Neuroquirúrgicos/métodos , Imagen por Resonancia Magnética , Angiografía de Substracción Digital/métodos
7.
Brain ; 144(11): 3381-3391, 2021 12 16.
Artículo en Inglés | MEDLINE | ID: mdl-34156437

RESUMEN

Contemporary treatments for spinal cord arteriovenous shunts are only based on clinicians' treatment experiences and expertise due to its rarity. We reviewed the clinical course of the largest multicentred cohort to evaluate the efficacy and deficiency of contemporary interventional treatments for spinal cord arteriovenous shunts. The clinical features, treatment results and clinical outcomes of 463 patients with spinal cord arteriovenous shunts were retrospectively assessed. The main outcome was the neurological deterioration that was evaluated based on the modified Aminoff and Logue scale. According to post-treatment digital subtraction angiography, complete obliteration was defined as disappearance of the intradural lesion, whereas partial obliteration was defined as any residual intradural lesion remaining visible and was further categorized as shunt-reduction obliteration (the nidus or shunt points were reduced) or palliative obliteration (only obliterated aneurysms or feeders). Cure rate was 40.6% for the whole cohort, 58.5% after microsurgery, and 26.4% after embolization. The curative resection was associated with non-metameric lesions, lesions with a maximum diameter <3 cm and lesions without anterior sulcal artery supply. The curative embolization was associated with fistula-type lesions, non-metameric lesions, and main drainage diameter <1.5 mm. The permanent treatment-related neurological deficits rate was 11.2% for the whole cohort, 16.1% after microsurgery, and 5.6% after embolization. The pretreatment clinical deterioration rate was 32.5%/year, which decreased to 9.3%/year after clinical interventions. Following partial treatment, the long-term acute and gradual deterioration rates were 5.3%/year and 3.6%/year, respectively. The acute deteriorations were associated with metameric lesions, craniocervical lesions, lesions with a maximum diameter ≥2 cm and residual aneurysm. Residual aneurysm was the only predictor of acute deterioration for non-metameric spinal cord arteriovenous shunts. The gradual deteriorations were associated with palliative obliteration, absence of pretreatment acute deterioration and intact main drainage. Although clinical risks of spinal cord arteriovenous shunts were reduced following clinical interventions, contemporary treatments for spinal cord arteriovenous shunt remains associated with considerable risks and incomplete efficacy. Individualized treatment plans should be adopted according to the angio-architectural features and major clinical risks of specific lesions. There is a higher opportunity for complete obliteration for lesions with simple angio-architecture. However, for most of spinal cord arteriovenous shunts with complex vascular anatomy, partial treatment is the only choice. For these patients, palliative obliteration targeting the aneurysms is recommended for reducing haemorrhagic risk, whereas shunt-reduction obliteration is necessary for non-haemorrhagic myelopathy. Contemporary treatment is ineffective in reducing haemorrhagic risk of incurable metameric spinal cord arteriovenous shunts.


Asunto(s)
Malformaciones Vasculares del Sistema Nervioso Central/terapia , Embolización Terapéutica/métodos , Médula Espinal/patología , Procedimientos Quirúrgicos Vasculares/métodos , Adolescente , Adulto , Femenino , Humanos , Masculino , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
8.
Childs Nerv Syst ; 38(8): 1557-1566, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35635570

RESUMEN

INTRODUCTION: Spontaneous spinal epidural hematoma (SSEH) is a rare neurosurgical emergency, presenting as sudden onset of back pain and weakness of lower extremities. Many patients have no definite cause. Some cases of SSEH caused by vascular malformation have been reported. The treatment strategy remains controversial. This study aimed to analyze the causes of SSEH and proposed a treatment strategy according to clinical outcomes of patients at a single institution. METHODS: A total of 25 cases of SSEH under 18 years of age treated between March 2004 and July 2021 were retrospectively analyzed. RESULTS: The mean age of the first SSEH onset was 7.1 years. The most common location was cervicothorax. Nine patients suffered from multiple episodes. Twenty-three patients underwent spinal digital subtraction angiography (DSA), of which seven (30.4%) patients had positive findings: three cases had epidural artery venous fistula (AVF), two cases had epidural artery venous malformation (AVM), and two cases had abnormal concentration of contrast agent. Seventeen patients received surgery. Eleven patients (44%) were diagnosed as vascular malformation by either DSA or pathology. The follow-up rate was 80%, with 20 patients (80%) achieving satisfactory clinical outcome. Risk factors for poor clinical outcome included multiple episodes (p = 0.028) and higher Aminoff-Logue score (p = 0.005). CONCLUSION: Spinal epidural vascular malformation is a significant cause of SSEH. Spinal DSA is necessary. Surgery should be recommended for patients with multiple episodes, positive findings on DSA, or severe neurological deficits. Conservation therapy can be considered for other patients, but long-time follow-up is necessary.


Asunto(s)
Hematoma Espinal Epidural , Malformaciones Vasculares , Adolescente , Niño , Hematoma Espinal Epidural/diagnóstico por imagen , Hematoma Espinal Epidural/etiología , Hematoma Espinal Epidural/cirugía , Humanos , Laminectomía/efectos adversos , Imagen por Resonancia Magnética/efectos adversos , Estudios Retrospectivos , Malformaciones Vasculares/complicaciones
9.
Pestic Biochem Physiol ; 181: 105007, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35082030

RESUMEN

Quintrione is a new post-emergence herbicide developed for use in rice; however, the mechanism of action remains unclear. We determined the phytotoxicity of quintrione, and the contributions of hormone levels and lipid peroxidation to phytotoxicity, by comparing them to those induced by quinclorac. We also investigated 4-hydroxyphenylpyruvate dioxygenase (HPPD) activity and carotenoid content following treatment with quintrione by comparing them to those induced by quinclorac and mesotrione. We found that quintrione and quinclorac both inhibited the growth of Echinochloa crusgalli var. zelayensis, but that quinclorac was a little more effective. At 24 h, quintrione and quinclorac significantly increased ethylene production and the contents of abscisic acid (ABA) and indole acetic acid (IAA) compared with the control. No significant differences were observed between quintrione and quinclorac on the three plant hormones. Quintrione and quinclorac also induced the formation of malondialdehyde (MDA), which is associated with lipid peroxidation, with no significant difference between them. Carotenoid content was reduced in E. crusgalli var. zelayensis following treatments with quintrione, quinclorac, and mesotrione. At 120 h, carotenoid contents were significantly higher following the quintrione and quinclorac treatments, in comparison with mesotrione treatment. There were no significant differences between quintrione and quinclorac in the inhibition of HPPD activity, and the effects of both were significantly less than the effect of mesotrione. In summary, E. crusgalli var. zelayensis was susceptible to both quintrione and quinclorac. The mechanism of action of quintrione, like that of quinclorac, was related to levels of plant hormones and lipid peroxidation; however, quintrione was a poor inhibitor of HPPD activity compared to mesotrione.


Asunto(s)
Echinochloa , Herbicidas , Oryza , Quinolinas , Herbicidas/toxicidad
10.
Stroke ; 52(12): 3873-3882, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34412511

RESUMEN

BACKGROUND AND PURPOSE: Paravertebral arteriovenous shunts (PVAVSs) are rare. Whether the intradural venous system is involved in drainage may lead to differences in clinical characteristics through specific pathophysiological mechanisms. This study aims to comprehensively evaluate the natural history and clinical outcomes of PVAVSs with or without intradural drainage. METHODS: Sixty-four consecutive patients with PVAVSs from 2 institutes were retrospectively reviewed. Lesions were classified as type A (n=28) if the intradural veins were involved in drainage; otherwise, they were classified as type B (n=36). The clinical course from initial presentation to the last follow-up was analyzed. RESULTS: The patients with type A shunts were older at presentation (52.5 versus 35.5 years, P<0.0001) and more likely to have lower spinal segments affected than patients with type B PVAVSs (67.8% versus 13.9%, P=0.00006). After presentation, the deterioration rates related to gait and sphincter dysfunction were significantly higher in patients with type A than type B shunts (gait dysfunction: 71.8%/y versus 17.0%/y, P=0.0006; sphincter dysfunction: 63.7%/y versus 11.3%/y, P=0.0002). According to the angiogram at the end of the latest treatment, 79% of type A and 75% of type B PVAVSs were completely obliterated. If the lesions were partially obliterated, a significantly higher clinical deterioration rate was observed in patients with type A shunts than those with type B shunts (69.9%/y versus 3.2%/y, P=0.0253). CONCLUSIONS: Type A PVAVSs feature rapid progressive neurological deficits; therefore, early clinical intervention is necessary. For complex lesions that cannot be completely obliterated, surgical disconnection of all refluxed radicular veins is suggested.


Asunto(s)
Fístula Arteriovenosa/patología , Fístula Arteriovenosa/terapia , Malformaciones Vasculares del Sistema Nervioso Central/patología , Malformaciones Vasculares del Sistema Nervioso Central/terapia , Médula Espinal/irrigación sanguínea , Adulto , Anciano , Embolización Terapéutica/métodos , Femenino , Humanos , Masculino , Microcirugia/métodos , Persona de Mediana Edad , Estudios Retrospectivos , Médula Espinal/patología , Procedimientos Quirúrgicos Vasculares/métodos
11.
Qual Life Res ; 30(10): 2843-2852, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34152576

RESUMEN

BACKGROUND: Health-related quality of life (HRQoL) is an important indicator when evaluating prognosis and disease-related treatments. Our current knowledge of the HRQoL outcomes of unruptured intracranial aneurysm (UIA) patients treated by the endovascular intervention appeared to be very limited. To fill this gap, the present study investigated the HRQoL outcomes and identified the influencing factors in UIA patients treated by endovascular intervention. METHODS: We conducted a single-center cross-sectional study on patients who underwent endovascular treatment for UIAs. HRQoL outcomes were assessed by the 36-item Short Form Health Survey (SF-36). The SF-36 results of the Chinese reference population were used as the reference data. The independent variables with a univariate analysis result of P < 0.05 were included in the multivariate analysis. Finally, multivariable linear regression analysis was performed to identify the factors influencing HRQoL. Bonferroni correction was utilized for multiple testing correction. RESULTS: A total of 200 patients (83 males and 117 females, mean age of 55.2 ± 9.48 years) with UIAs treated by endovascular intervention were enrolled. The scores of SF-36 in 8 domains for UIA patients treated by endovascular intervention did not all reach the average level of the Chinese reference population after an average recovery period of 30.67 ± 8.6 months. Ischemic cerebrovascular disease history, advanced age, and mRS progression at discharge were independent risk factors of HRQoL for UIA patients treated by endovascular intervention, but physical exercise at least once a week and daily sleep time no < 6 h were independent protective factors. CONCLUSION: The HRQoL of UIA patients treated by the endovascular intervention was decreased to varying degrees compared with those of the Chinese reference population. The influencing factors of HRQoL explored by this study provide insights for improving the clinical management and daily lives of these patients. HRQoL assessment should be included in future aneurysm prognostic studies to provide better evidence.


Asunto(s)
Procedimientos Endovasculares , Aneurisma Intracraneal , Estudios Transversales , Femenino , Humanos , Aneurisma Intracraneal/cirugía , Masculino , Persona de Mediana Edad , Calidad de Vida/psicología , Factores de Riesgo , Resultado del Tratamiento
12.
Pestic Biochem Physiol ; 179: 104978, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34802528

RESUMEN

Weeds infest rice causing high yield losses, leading to the increasing use of herbicides for weed control. However, many weeds have evolved resistance to common commercial herbicides, including penoxsulam, metamifop and quinclorac. This study investigated the weed control effect and the phytotoxicity mechanism of florpyrauxifen-benzyl, a novel synthetic auxin herbicide registered for weed management in rice fields in China. The greenhouse study showed that florpyrauxifen-benzyl was highly efficient (GR50 < 6 and GR90 < 15 g a.i ha-1) at controlling 10 weed species commonly found in rice fields, including penoxsulam- and quinclorac- resistant(R) biotypes of Echinochloa Beauv. and bensulfuron-methyl-R biotype of Ammannia arenaria. The typical plant hormone content showed that following florpyrauxifen-benzyl treatment, indole-3-acetic acid (IAA) production changed only slightly at 12 h, while abscisic acid (ABA) production increased with time in the treated group, whose content was significantly higher than that of the control. Besides, ethylene biosynthesis was stimulated by florpyrauxifen-benzyl, ethylene production, 1-aminocyclopropane-1-carboxylic acid (ACC) content, and 1-aminocyclopropane-1-carboxylate synthase (ACS) and 1-aminocyclopropane-1-carboxylate oxidase (ACO) activities, which evidently increased in the treated group, and ethylene peaked at 36 h. For the antioxidant enzyme activities and malondialdehyde (MDA) content in the treated group, results showed that MDA content continuously increased with time and was greater than that in the untreated group at 48 h and 72 h, superoxide dismutase (SOD) activity changed with exposure time and was significantly higher in the treatment group than the control at 48 h. A similar phenomenon was observed in peroxidase (POD) activity, which reached a peak at 48 h, and no distinct difference in catalase (CAT) activity was observed among groups except for the higher activity in the treated groups than control at 36 h and 48 h. Our results showed that that the stimulation ethylene biosynthesis and accumulation of ABA and reactive oxygen species (ROS) play important roles in the phytotoxicity mechanism of florpyrauxifen-benzyl in plants. Our findings demonstrate the potential of florpyrauxifen-benzyl to provide an alternative weed management strategy for rice fields.


Asunto(s)
Echinochloa , Herbicidas , Resistencia a los Herbicidas , Herbicidas/toxicidad , Malezas , Control de Malezas
13.
J Craniofac Surg ; 32(1): 187-192, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-32969925

RESUMEN

OBJECTIVE: This study analyzed the vascular architecture characteristics of high-flow vascular malformations (VMs) in periorbital regions, as well as the treatment and imaging prognosis of occlusion degree of the outflow veins. METHOD: The clinical data of 24 patients with high-flow VMs in periorbital regions treated in our center from 2012 to 2019 were analyzed retrospectively, and the vascular architecture characteristics, treatment methods, and follow-up results were recorded. RESULTS: The vascular architecture of high-flow VMs in periorbital regions which usually contained the intracranial feeding arteries (24/24,100.0%) and intracranial outflow veins (18/24, 75.0%). The average age of first diagnosis was 23 ±â€Š16 years; the average age of treatment was 37 ±â€Š10 years; the median follow-up time was 42.5 months. Twenty-four patients with high-flow VMs in periorbital regions had 58 treatments in all. The imaging cure was achieved in 6 patients by complete occlusion of outflow veins, and no recurrence was found by DSA. Eighteen patients who get incomplete occlusion of outflow veins were given 49 treatments, and 8 patients had imaging recurrence. Seven patients (7/24, 29.2%) had treatment-related complications in all. CONCLUSIONS: Patients with high-flow VMs in periorbital regions are the most complex cases. The prognosis of patients whose outflow veins can be completely occluded is relatively good. The stepwise embolization while preserving organ function is advisable. Nevertheless, the incidence of treatment complications is still high.


Asunto(s)
Embolización Terapéutica , Malformaciones Vasculares , Adolescente , Adulto , Niño , Humanos , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Malformaciones Vasculares/diagnóstico por imagen , Malformaciones Vasculares/terapia , Venas/diagnóstico por imagen , Adulto Joven
14.
Brain ; 142(1): 23-34, 2019 01 01.
Artículo en Inglés | MEDLINE | ID: mdl-30544177

RESUMEN

Brain and spinal arteriovenous malformations are congenital lesions causing intracranial haemorrhage or permanent disability especially in young people. We investigated whether the vast majority or all brain and spinal arteriovenous malformations are associated with detectable tumour-related somatic mutations. In a cohort of 31 patients (21 with brain and 10 with spinal arteriovenous malformations), tissue and paired blood samples were analysed with ultradeep next generation sequencing of a panel of 422 common tumour genes to identify the somatic mutations. We used droplet digital polymerase chain reaction to confirm the panel sequenced mutations and identify the additional low variant frequency mutations. The association of mutation variant frequencies and clinical features were analysed. The average sequencing depth was 1077 ± 298×. High prevalence (87.1%) of KRAS/BRAF somatic mutations was found in brain and spinal arteriovenous malformations with no other replicated tumour-related mutations. The prevalence of KRAS/BRAF mutation was 81.0% (17 of 21) in brain and 100% (10 of 10) in spinal arteriovenous malformations. We detected activating BRAF mutations and two novel mutations in KRAS (p.G12A and p.S65_A66insDS) in CNS arteriovenous malformations for the first time. The mutation variant frequencies were negatively correlated with nidus volumes of brain (P = 0.038) and spinal (P = 0.028) arteriovenous malformations but not ages. Our findings support a causative role of somatic tumour-related mutations of KRAS/BRAF in the overwhelming majority of brain and spinal arteriovenous malformations. This pathway homogeneity and high prevalence implies the development of targeted therapies with RAS/RAF pathway inhibitors without the necessity of tissue genetic diagnosis.10.1093/brain/awy307_video1awy307media15978667388001.


Asunto(s)
Malformaciones Arteriovenosas/genética , Encéfalo/anomalías , Predisposición Genética a la Enfermedad/genética , Malformaciones del Sistema Nervioso/genética , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Médula Espinal/anomalías , Adolescente , Adulto , Niño , Preescolar , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Mutación , Prevalencia , Análisis de Secuencia de ADN/estadística & datos numéricos , Adulto Joven
15.
Brain ; 142(8): 2265-2275, 2019 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-31211368

RESUMEN

The natural history of intradural spinal cord arteriovenous shunts is unknown. We performed an observational study in a consecutive patient cohort with symptomatic intradural spinal cord arteriovenous shunts who were admitted to three institutes to investigate the clinical course of this complex disease, which would provide valuable evidence to inform clinical decision-making. The clinical course of patients with symptomatic intradural spinal cord arteriovenous shunts from initial presentation to occurrence of clinical deterioration, initiation of treatment, or last follow-up was analysed. Patients with at least 1 month of observation were included in this study. Clinical onset and deterioration patterns were divided into acute and gradual. Annual and cumulative rates of clinical deterioration as well as their risk factors were analysed using Kaplan-Meier life table analysis and Cox proportional hazards model. To assess risks and benefits of treatment, post-treatment clinical courses were further assessed. Four hundred and sixty-six patients with a mean observational period of 36.9 ± 58.8 months were included; 56.7% of patients presented with acute onset, of whom 77.3% experienced spontaneous recovery. Age of onset older than 28 years, initial modified Aminoff and Logue scale of >3, mid-thoracic lesions and non-ventral lesions were independent predictors of failure for spontaneous recovery. The annual risk of general, acute and gradual clinical deterioration after onset was 30.7%, 9.9% and 17.7%, respectively. Risk of deterioration was highest in the early period after initial onset. Acute onset was the only independent risk factor [hazard ratio 1.957 (95% confidence interval, CI 1.324-2.894); P = 0.0008] of acute deterioration and gradual onset was the strongest predictor [hazard ratio 2.350 (95% CI 1.711-3.229); P < 0.0001] of the gradual deterioration among all the stratifying factors. After invasive treatment, complete obliteration was achieved in 37.9% of patients (138 of 364) and improved or stable clinical status was noted in 80.8% of patients. Forty-two patients (11.5%) experienced permanent complications. Overall post-treatment deterioration rate was 8.4%/year, and 5.3%/year if permanent complications were excluded. The natural history of symptomatic spinal cord arteriovenous shunts is poor, especially in the early period after onset, and early intervention is thus recommended. Initial onset pattern significantly affects the natural history of the lesion, which prompts a differentiated treatment strategy.


Asunto(s)
Malformaciones Vasculares del Sistema Nervioso Central , Médula Espinal/anomalías , Adolescente , Adulto , Edad de Inicio , Niño , Preescolar , Progresión de la Enfermedad , Femenino , Humanos , Lactante , Masculino , Recuperación de la Función , Adulto Joven
16.
BMC Psychiatry ; 20(1): 430, 2020 09 03.
Artículo en Inglés | MEDLINE | ID: mdl-32883243

RESUMEN

BACKGROUND: Studies on anxiety and depression in unruptured intracranial aneurysm (UIA) patients after treatment via endovascular intervention are rare and controversial. We aimed to explore the prevalence of anxiety and depression among Chinese patients with UIAs treated by endovascular intervention and to identify which factors contribute to the development of these symptoms. METHODS: We performed a cross-sectional study on anxiety and depression in patients who underwent endovascular treatment for UIAs using the Hospital Anxiety and Depression Scale (HADS). The demographic, clinical and radiological data for all patients were retrospectively collected from the aneurysm database and medical records. Moreover, we utilized data from a large sample of 200 UIA patients and multivariate logistic regression analysis to investigate the risk factors for anxiety and depression in these patients. Candidate variables with P values less than 0.20 in univariate analysis were included in the multivariate logistic regression analysis. RESULTS: Two hundred patients returned completed questionnaires in this study. Of these 200 patients, 34 (17.0%) suffered from anxiety and 31 (15.5%) suffered from depression 30.67 ± 8.6 months after being discharged. The multivariate analysis results indicated that shorter sleep times were statistically significantly associated with depression (OR = 1.62, 95% CI: 1.14 ~ 2.29, P = 0.007, Adjusted P = 0.02). . CONCLUSION: The prevalences of anxiety and depression in UIA patients treated by endovascular intervention were 17.0 and 15.5%, respectively. Shorter sleep times were significantly associated with depression. Our findings provide evidence for the clinical and psychological management of these patients.


Asunto(s)
Aneurisma Intracraneal , Ansiedad/epidemiología , Pueblo Asiatico , Estudios Transversales , Depresión/epidemiología , Humanos , Aneurisma Intracraneal/epidemiología , Aneurisma Intracraneal/cirugía , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento
18.
World J Surg Oncol ; 15(1): 147, 2017 Aug 03.
Artículo en Inglés | MEDLINE | ID: mdl-28774300

RESUMEN

BACKGROUND: Previous studies have revealed the importance of microRNAs' (miRNAs) function as biomarkers in diagnosing human bladder cancer (BC). However, the results are discordant. Consequently, the possibility of miRNAs to be BC biomarkers was summarized in this meta-analysis. METHODS: In this study, the relevant articles were systematically searched from CBM, PubMed, EMBASE, and Chinese National Knowledge Infrastructure (CNKI). The bivariate model was used to calculate the pooled diagnostic parameters and summary receiver operator characteristic (SROC) curve in this meta-analysis, thereby estimating the whole predictive performance. STATA software was used during the whole analysis. RESULTS: Thirty-one studies from 10 articles, including 1556 cases and 1347 controls, were explored in this meta-analysis. In short, the pooled sensitivity, area under the SROC curve, specificity, positive likelihood ratio, diagnostic odds ratio, and negative likelihood ratio were 0.72 (95%CI 0.66-0.76), 0.80 (0.77-0.84), 0.76 (0.71-0.81), 3.0 (2.4-3.8), 8 (5.0-12.0), and 0.37 (0.30-0.46) respectively. Additionally, sub-group and meta-regression analyses revealed that there were significant differences between ethnicity, miRNA profiling, and specimen sub-groups. These results suggested that Asian population-based studies, multiple-miRNA profiling, and blood-based assays might yield a higher diagnostic accuracy than their counterparts. CONCLUSIONS: This meta-analysis demonstrated that miRNAs, particularly multiple miRNAs in the blood, might be novel, useful biomarkers with relatively high sensitivity and specificity and can be used for the diagnosis of BC. However, further prospective studies with more samples should be performed for further validation.


Asunto(s)
Biomarcadores de Tumor/sangre , MicroARNs/sangre , Neoplasias de la Vejiga Urinaria/sangre , Neoplasias de la Vejiga Urinaria/genética , Pueblo Asiatico/genética , Biomarcadores de Tumor/orina , Cistoscopía/efectos adversos , Humanos , Estadificación de Neoplasias , Proteínas Nucleares/orina , Oportunidad Relativa , Curva ROC , Análisis de Regresión , Sensibilidad y Especificidad , Urinálisis/métodos , Neoplasias de la Vejiga Urinaria/diagnóstico , Neoplasias de la Vejiga Urinaria/orina
19.
Pestic Biochem Physiol ; 143: 306-311, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29183606

RESUMEN

Chinese sprangletop (Leptochloa chinensis (L.) Nees) is a serious grass weed in rice paddies. In some areas, L. chinensis has become resistant to the herbicide cyhalofop-butyl because of its frequent and extensive use over the past five years. In this study, whole-plant dose-response assays were conducted, and a L. chinensis population (ZHYH) had a 75.8-fold resistance index to cyhalofop-butyl. Molecular analyses revealed that this resistance was attributed to a tryptophan (Trp)-2027-to-cysteine (Cys) substitution in the CT domain of the ACCase gene. To our knowledge, this is the first report revealing the mechanism underlying cyhalofop-butyl resistance in L. chinensis. Furthermore, a derived cleaved amplified polymorphic (dCAPS) assay was developed to rapidly detect the Trp-2027-Cys mutation. Of the 100 ZHYH plants analyzed, 52 were heterozygous mutants and 48 were susceptible homozygous plants. In addition, the cyhalofop-butyl-resistant L. chinensis was cross-resistant to aryloxyphenoxypropionate and phenylpyrazoline herbicides, but not to cyclohexanedione, acetolactate synthase-inhibiting, protoporphyrinogen oxidase, and urea herbicides, and had only slight resistance to the hormonal herbicide quinclorac.


Asunto(s)
Butanos/toxicidad , Resistencia a los Herbicidas/genética , Herbicidas/toxicidad , Nitrilos/toxicidad , Poaceae/efectos de los fármacos , Acetil-CoA Carboxilasa/antagonistas & inhibidores , Acetil-CoA Carboxilasa/genética , Mutación , Proteínas de Plantas/antagonistas & inhibidores , Proteínas de Plantas/genética , Poaceae/genética , Poaceae/crecimiento & desarrollo
20.
RSC Adv ; 14(7): 4946-4965, 2024 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-38327811

RESUMEN

Nowadays, environmental pollution and the energy crisis are two significant concerns in the world, and photocatalysis is seen as a key solution to these issues. All-inorganic lead halide perovskites have been extensively utilized in photocatalysis and have become one of the most promising materials in recent years. The superior performance of all-inorganic lead halide perovskites distinguish them from other photocatalysts. Since pure lead halide perovskites typically have shortcomings, such as low stability, poor active sites, and ineffective carrier extraction, that restrict their use in photocatalytic reactions, it is crucial to enhance their photocatalytic activity and stability. Huge progress has been made to deal with these critical issues to enhance the effects of all-inorganic lead halide perovskites as efficient photocatalysts in a wide range of applications. In this manuscript, the synthesis methods of all-inorganic lead halide perovskites are discussed, and promising strategies are proposed for superior photocatalytic performance. Moreover, the research progress of photocatalysis applications are summarized; finally, the issues of all-inorganic lead halide perovskite photocatalytic materials at the current state and future research directions are also analyzed and discussed. We hope that this manuscript will provide novel insights to researchers to further promote the research on photocatalysis based on all-inorganic lead halide perovskites.

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