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1.
Nature ; 603(7900): 335-342, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35236983

RESUMO

RAS family members are the most frequently mutated oncogenes in human cancers. Although KRAS(G12C)-specific inhibitors show clinical activity in patients with cancer1-3, there are no direct inhibitors of NRAS, HRAS or non-G12C KRAS variants. Here we uncover the requirement of the silent KRASG60G mutation for cells to produce a functional KRAS(Q61K). In the absence of this G60G mutation in KRASQ61K, a cryptic splice donor site is formed, promoting alternative splicing and premature protein termination. A G60G silent mutation eliminates the splice donor site, yielding a functional KRAS(Q61K) variant. We detected a concordance of KRASQ61K and a G60G/A59A silent mutation in three independent pan-cancer cohorts. The region around RAS Q61 is enriched in exonic splicing enhancer (ESE) motifs and we designed mutant-specific oligonucleotides to interfere with ESE-mediated splicing, rendering the RAS(Q61) protein non-functional in a mutant-selective manner. The induction of aberrant splicing by antisense oligonucleotides demonstrated therapeutic effects in vitro and in vivo. By studying the splicing necessary for a functional KRAS(Q61K), we uncover a mutant-selective treatment strategy for RASQ61 cancer and expose a mutant-specific vulnerability, which could potentially be exploited for therapy in other genetic contexts.


Assuntos
Neoplasias , Proteínas Proto-Oncogênicas p21(ras) , Mutação Silenciosa , Processamento Alternativo/genética , Humanos , Neoplasias/tratamento farmacológico , Neoplasias/genética , Oligonucleotídeos Antissenso/genética , Oligonucleotídeos Antissenso/uso terapêutico , Oncogenes/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Sítios de Splice de RNA/genética
2.
Nano Lett ; 24(18): 5453-5459, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38682680

RESUMO

Voltage-controlled oscillators, serving as fundamental components in semiconductor chips, find extensive applications in diverse modules such as phase-locked loops, clock generators, and frequency synthesizers within high-frequency integrated circuits. This study marks the first implementation of superconducting Josephson probe microscopy for near-field microwave detection on multiple voltage-controlled oscillators. Focusing on spectrum tracking, various phenomena, such as stray spectra and frequency drifts, were found under nonsteady operating states. Parasitic electromagnetic fields, originating from power supply lines and frequency divider circuits, were identified as sources of interference between units. The investigation further determined optimal working states by analyzing features of the microwave distributions. Our research not only provides insights into the optimization of circuit design and performance enhancement in oscillators but also emphasizes the significance of nondestructive near-field microwave microscopy as a pivotal tool in characterizing integrated millimeter-wave chips.

3.
Neuroimage ; 296: 120683, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-38880308

RESUMO

Temporal lobe epilepsy (TLE) stands as the predominant adult focal epilepsy syndrome, characterized by dysfunctional intrinsic brain dynamics. However, the precise mechanisms underlying seizures in these patients remain elusive. Our study encompassed 116 TLE patients compared with 51 healthy controls. Employing microstate analysis, we assessed brain dynamic disparities between TLE patients and healthy controls, as well as between drug-resistant epilepsy (DRE) and drug-sensitive epilepsy (DSE) patients. We constructed dynamic functional connectivity networks based on microstates and quantified their spatial and temporal variability. Utilizing these brain network features, we developed machine learning models to discriminate between TLE patients and healthy controls, and between DRE and DSE patients. Temporal dynamics in TLE patients exhibited significant acceleration compared to healthy controls, along with heightened synchronization and instability in brain networks. Moreover, DRE patients displayed notably lower spatial variability in certain parts of microstate B, E and F dynamic functional connectivity networks, while temporal variability in certain parts of microstate E and G dynamic functional connectivity networks was markedly higher in DRE patients compared to DSE patients. The machine learning model based on these spatiotemporal metrics effectively differentiated TLE patients from healthy controls and discerned DRE from DSE patients. The accelerated microstate dynamics and disrupted microstate sequences observed in TLE patients mirror highly unstable intrinsic brain dynamics, potentially underlying abnormal discharges. Additionally, the presence of highly synchronized and unstable activities in brain networks of DRE patients signifies the establishment of stable epileptogenic networks, contributing to the poor responsiveness to antiseizure medications. The model based on spatiotemporal metrics demonstrated robust predictive performance, accurately distinguishing both TLE patients from healthy controls and DRE patients from DSE patients.


Assuntos
Epilepsia do Lobo Temporal , Aprendizado de Máquina , Imageamento por Ressonância Magnética , Humanos , Epilepsia do Lobo Temporal/fisiopatologia , Epilepsia do Lobo Temporal/diagnóstico por imagem , Adulto , Masculino , Feminino , Pessoa de Meia-Idade , Imageamento por Ressonância Magnética/métodos , Rede Nervosa/fisiopatologia , Rede Nervosa/diagnóstico por imagem , Encéfalo/fisiopatologia , Encéfalo/diagnóstico por imagem , Adulto Jovem , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Conectoma/métodos
4.
Cancer ; 130(3): 375-384, 2024 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-37843054

RESUMO

BACKGROUND: Sexual health is understudied and underreported in patients with lung cancer, and most data precede the approval of widely used targeted therapies and immune checkpoint inhibitors. The authors sought to evaluate the prevalence of sexual dysfunction in women with lung cancer in our current clinical environment. METHODS: This cross-sectional survey study was administered online to 249 women via the GO2 for Lung Cancer (GO2) Registry, using the Patient-Reported Outcomes Measurement Information System Sexual Function and Satisfaction Measures questionnaire. Participants were recruited between June 2020 to June 2021. Eligibility criteria included age >18 years, self-identifying as a woman, fluency in English, and a lung cancer diagnosis within 10 years. RESULTS: Most (67%) had stage IV lung cancer and 47% were receiving targeted therapy; 66% were undergoing active treatment. Despite 54% of participants reporting "recent" sexual activity, most (77%) indicated having little to no interest in sexual activity and 48% reported recent minimal satisfaction with their sex life. The most common reasons negatively affecting participants' satisfaction with their sex life included fatigue (40%) and feeling sad/unhappy (28%). Common reasons for lack of recent sexual activity included lack of interest (68%) and vaginal dryness or pain (30%). Compared to pre-diagnosis, women were significantly less likely to have recent interest in sexual activity. In multivariable logistic-regression, vaginal dryness showed a significant negative association with recent interest in sexual activity. CONCLUSIONS: Sexual dysfunction is prevalent in women with lung cancer. Sexual health should be integrated into routine care for patients with lung cancer.


Assuntos
Neoplasias Pulmonares , Disfunções Sexuais Fisiológicas , Saúde Sexual , Doenças Vaginais , Humanos , Feminino , Adolescente , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/epidemiologia , Estudos Transversais , Comportamento Sexual , Inquéritos e Questionários , Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Fisiológicas/etiologia
5.
BMC Psychiatry ; 24(1): 241, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38553683

RESUMO

BACKGROUND: A temporal network of generalized anxiety disorder (GAD) symptoms could provide valuable understanding of the occurrence and maintenance of GAD. We aim to obtain an exploratory conceptualization of temporal GAD network and identify the central symptom. METHODS: A sample of participants (n = 115) with elevated GAD-7 scores (Generalized Anxiety Disorder 7-Item Questionnaire [GAD-7] ≥ 10) participated in an online daily diary study in which they reported their GAD symptoms based on DSM-5 diagnostic criteria (eight symptoms in total) for 50 consecutive days. We used a multilevel VAR model to obtain the temporal network. RESULTS: In temporal network, a lot of lagged relationships exist among GAD symptoms and these lagged relationships are all positive. All symptoms have autocorrelations and there are also some interesting feedback loops in temporal network. Sleep disturbance has the highest Out-strength centrality. CONCLUSIONS: This study indicates how GAD symptoms interact with each other and strengthen themselves over time, and particularly highlights the relationships between sleep disturbance and other GAD symptoms. Sleep disturbance may play an important role in the dynamic development and maintenance process of GAD. The present study may develop the knowledge of the theoretical model, diagnosis, prevention and intervention of GAD from a temporal symptoms network perspective.


Assuntos
Avaliação Momentânea Ecológica , Transtornos do Sono-Vigília , Humanos , Transtornos de Ansiedade/complicações , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Ansiedade/diagnóstico , Inquéritos e Questionários , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/diagnóstico , Sono
6.
J Environ Manage ; 360: 121120, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38759558

RESUMO

Surface water nutrient pollution, the primary cause of eutrophication, remains a major environmental concern in Western Lake Erie despite intergovernmental efforts to regulate nutrient sources. The Maumee River Basin has been the largest nutrient contributor. The two primary nutrient sources are inorganic fertilizer and livestock manure applied to croplands, which are later carried to the streams via runoff and soil erosion. Prior studies of nutrient source attribution have focused on large watersheds or counties at annual time scales. Source attribution at finer spatiotemporal scales, which enables more effective nutrient management, remains a substantial challenge. This study aims to address this challenge by developing a generalizable Bayesian network model for phosphorus source attribution at the subwatershed scale (12-digit Hydrologic Unit Code). Since phosphorus release is uncertain, we combine excess phosphorus derived from manure and fertilizer application and crop uptake data, flow information simulated by the SWAT model, and in-stream water quality measurements using Approximate Bayesian Computation to derive a posterior that attributes phosphorus contributions to subwatersheds. Our results show significant variability in subwatershed-scale phosphorus release that is lost in coarse-scale attribution. Phosphorus contributions attributed to the subwatersheds are on average lower than the excess phosphorus estimated by the nutrient balance approach currently adopted by environmental agencies. Fertilizer contributes more soluble reactive phosphorus than manure, while manure contributes most of the unreactive phosphorus. While developed for the specific context of Maumee River Basin, our lightweight and generalizable model framework could be adapted to other regions and pollutants and could help inform targeted environmental regulation and enforcement.


Assuntos
Teorema de Bayes , Fertilizantes , Fósforo , Rios , Qualidade da Água , Fósforo/análise , Rios/química , Fertilizantes/análise , Monitoramento Ambiental , Esterco/análise
7.
BMC Med ; 20(1): 480, 2022 12 14.
Artigo em Inglês | MEDLINE | ID: mdl-36514063

RESUMO

BACKGROUND: Liquid biopsy has been widely researched for early diagnosis, prognostication and disease monitoring in lung cancer, but there is a need to investigate its clinical utility for early-stage non-small cell lung cancer (NSCLC). METHODS: We performed a meta-analysis and systematic review to evaluate diagnostic and prognostic values of liquid biopsy for early-stage NSCLC, regarding the common biomarkers, circulating tumor cells, circulating tumor DNA (ctDNA), methylation signatures, and microRNAs. Cochrane Library, PubMed, EMBASE databases, ClinicalTrials.gov, and reference lists were searched for eligible studies since inception to 17 May 2022. Sensitivity, specificity and area under the curve (AUC) were assessed for diagnostic values. Hazard ratio (HR) with a 95% confidence interval (CI) was extracted from the recurrence-free survival (RFS) and overall survival (OS) plots for prognostic analysis. Also, potential predictive values and treatment response evaluation were further investigated. RESULTS: In this meta-analysis, there were 34 studies eligible for diagnostic assessment and 21 for prognostic analysis. The estimated diagnostic values of biomarkers for early-stage NSCLC with AUCs ranged from 0.84 to 0.87. The factors TNM stage I, T1 stage, N0 stage, adenocarcinoma, young age, and nonsmoking contributed to a lower tumor burden, with a median cell-free DNA concentration of 8.64 ng/ml. For prognostic analysis, the presence of molecular residual disease (MRD) detection was a strong predictor of disease relapse (RFS, HR, 4.95; 95% CI, 3.06-8.02; p < 0.001) and inferior OS (HR, 3.93; 95% CI, 1.97-7.83; p < 0.001), with average lead time of 179 ± 74 days between molecular recurrence and radiographic progression. Predictive values analysis showed adjuvant therapy significantly benefited the RFS of MRD + patients (HR, 0.27; p < 0.001), while an opposite tendency was detected for MRD - patients (HR, 1.51; p = 0.19). For treatment response evaluation, a strong correlation between pathological response and ctDNA clearance was detected, and both were associated with longer survival after neoadjuvant therapy. CONCLUSIONS: In conclusion, our study indicated liquid biopsy could reliably facilitate more precision and effective management of early-stage NSCLC. Improvement of liquid biopsy techniques and detection approaches and platforms is still needed, and higher-quality trials are required to provide more rigorous evidence prior to their routine clinical application.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/genética , Biópsia Líquida , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Recidiva Local de Neoplasia
8.
Opt Express ; 30(20): 36826-36838, 2022 Sep 26.
Artigo em Inglês | MEDLINE | ID: mdl-36258604

RESUMO

A novel merit function was constructed using the spectral coefficient average error and standard deviation, which can simultaneously optimize the expectation of spectral coefficient error and the envelope of standard deviation. Thus, a multi-objective optimization strategy based on Non-Dominated Sorting Genetic Algorithm and Sequential quadratic programming was proposed. By comparing result of wideband anti-reflection film, cut-off filter and Infrared dual-band filter designed by the conventional algorithm and the new algorithm, the control effect of the new algorithm on sensitivity of film parameters error was verified. The results show that the novel design method has the characteristics of time-efficient calculations and is capable of effectively improving the production yield of the film system, which has practical significance.

9.
Appl Opt ; 61(24): 7237-7244, 2022 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-36256345

RESUMO

Using theory and experiments, we demonstrated the combined influence of the spectral gain and dispersion of a dissipative soliton mode-locked fiber laser on a time-stretching analog-to-digital conversion link without an optical amplifier. The theoretical and experimental results indicate the following: first, the amplitude and envelope shape of the stretched signal are mainly affected by the spectral gain of the dissipative soliton at different central wavelengths under a radio frequency signal of 10 GHz. Second, at the higher frequency of 25 GHz, the influence of the phase shift induced by the dispersion of different spectral ranges on the amplitude of the stretched signal becomes clearer. The amplitude of the stretched signal across all spectral ranges decrease, and the envelope shape differs from that at 10 GHz. Moreover, the wavelength at the maximum amplitude of the stretched signal changes, for which the influence of the spectral dispersion is greater than that of the spectral gain. Finally, the ratio of the amplitude at 25 GHz to that at 10 GHz at different spectral ranges are different, which indicates that the amplitude of the stretched signal at different spectral ranges is affected by the phase shift by different degrees.

10.
Neurocrit Care ; 36(1): 192-201, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34286465

RESUMO

BACKGROUND: To date, specialized studies focusing on status epilepticus (SE) in anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis are limited, and the association between the occurrence of SE and clinical outcome is controversial. This study aims to investigate the differences between patients with critical anti-NMDAR encephalitis with SE and patients who experienced epileptic seizures without SE and to evaluate the long-term disease outcomes of patients with anti-NMDAR encephalitis with SE who were admitted to the neurological intensive care unit (neuro-ICU). METHODS: In this retrospective study based on a prospective registry, patients with anti-NMDAR encephalitis with neuro-ICU admission from 2014 to 2019 were analyzed and divided into two groups based on whether they had SE. Their clinical characteristics during the neuro-ICU stay were assessed and compared. The neurological and seizure outcomes were evaluated every 3 months. RESULTS: Of 83 patients with anti-NMDAR encephalitis, 24 required intensive care. In the SE group, 38.5% (5 of 13) of patients developed refractory SE (RSE), and 21.3% (3 of 13) of patients developed super RSE. More patients in the SE group presented with seizures as the initial symptoms (53.8% vs. 9.1%, p = 0.033) and had a strong positive NMDAR antibody titer in the cerebrospinal fluid (76.9% vs. 27.3%, p = 0.043). More patients in the non-SE group had a good neurological outcome (modified Rankin Scale (mRS) score < 2) at 3 months after disease onset (60.0% vs. 15.4%, p = 0.039), but 83.3% of patients with SE had a mRS score < 2 at 9 months after disease onset, which was similar to the rate in the non-SE group. A total of 41.7% of patients with SE had their last seizure within 1 month from disease onset, which was significantly lower than the rate in the non-SE group (90%), but all the patients with SE became seizure free after the acute phase of disease. CONCLUSIONS: Patients with critical anti-NMDAR encephalitis who present with SE have a high rate of RSE/super RSE and recover more slowly than patients without SE, but most of them will eventually achieve good long-term neurological outcomes and live seizure free after the acute phase.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Estado Epiléptico , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/terapia , Cuidados Críticos , Seguimentos , Humanos , Estudos Retrospectivos , Estado Epiléptico/etiologia , Estado Epiléptico/terapia
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(5): 479-483, 2022 May 10.
Artigo em Zh | MEDLINE | ID: mdl-35598261

RESUMO

OBJECTIVE: To summarize the clinical phenotype and genotypic characteristics of 3 patients with KBG syndrome and epileptic seizure. METHODS: Clinical data of the patients were collected. Family-trio whole exon sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing. RESULTS: Patients 1 and 2 were boys, and patient 3 was an adult woman. All patients had epileptic seizures and mental deficiency. Their facial features included triangular face, low hair line, hypertelorism, large forward leaning auricles, broad nasal bridge, upturned nostrils, long philtrum, arched upper lip, and macrodontia. The two boys also had bilateral Simian creases. WES revealed that the three patients all harbored heterozygous de novo frameshift variants in exon 9 of the ANKRD11 gene including c.2948delG (p.Ser983Metfs*335), c.5397_c.5398insC (p.Glu1800Argfs*150) and c.1180_c.1184delAATAA (p.Asn394Hisfs*42). So far 291 patients with ANKRD11 gene variants or 16q24.3 microdeletions were reported, with over 75% being de novo mutations. CONCLUSION: Above findings have enriched the spectrum of ANKRD11 gene mutations underlying KBG syndrome. WES is helpful for the early diagnosis of KBG, and provided reference for genetic counseling of this disease.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Epilepsia , Deficiência Intelectual , Proteínas Repressoras , Anormalidades Dentárias , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Epilepsia/genética , Fácies , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Fenótipo , Proteínas Repressoras/genética , Convulsões/genética , Anormalidades Dentárias/genética
12.
BMC Psychiatry ; 21(1): 279, 2021 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-34059013

RESUMO

BACKGROUND: Comorbidity between depressive and anxiety disorders is common. From network perspective, mental disorders arise from direct interactions between symptoms and comorbidity is due to direct interactions between depression and anxiety symptoms. The current study investigates the network structure of depression and anxiety symptoms in Chinese female nursing students and identifies the central and bridge symptoms as well as how other symptoms in present network are related to depression symptom "thoughts of death". METHODS: To understand the full spectrum of depression and anxiety, we recruited 776 Chinese female nursing students with symptoms of depression and anxiety that span the full range of normal to abnormal. Depression symptoms were measured by Patient Health Questionnaire-9 while anxiety symptoms were measured by Generalized Anxiety Disorder 7-Item Questionnaire. Network analysis was used to construct networks. Specifically, we computed the predictability, expected influence and bridge expected influence for each symptom and showed a flow network of "thoughts of death". RESULTS: Nine strongest edges existed in network were from the same disorder. Four were between depression symptoms, like "sleep difficulties" and "fatigue", and "anhedonia" and "fatigue". Five were between anxiety symptoms, like "nervousness or anxiety" and "worry too much", and "restlessness" and "afraid something will happen". The symptom "fatigue", "feeling of worthlessness" and "irritable" had the highest expected influence centrality. Results also revealed two bridge symptoms: "depressed or sad mood" and "irritable". As to "thoughts of death", the direct relations between it and "psychomotor agitation/retardation" and "feeling of worthlessness" were the strongest direct relations. CONCLUSIONS: The current study highlighted critical central symptoms "fatigue", "feeling of worthlessness" and "irritable" and critical bridge symptoms "depressed or sad mood" and "irritable". Particularly, "psychomotor agitation/retardation" and "feeling of worthlessness" were identified as key priorities due to their strongest associations with suicide ideation. Implications for clinical prevention and intervention based on these symptoms are discussed.


Assuntos
Depressão , Estudantes de Enfermagem , Ansiedade , Transtornos de Ansiedade , China , Feminino , Humanos
13.
BMC Psychiatry ; 21(1): 448, 2021 09 10.
Artigo em Inglês | MEDLINE | ID: mdl-34507563

RESUMO

BACKGROUND: Intolerance of uncertainty (IU) is considered as a specific risk factor in the development and maintenance of generalized anxiety disorder (GAD). Yet, researches have investigated the relations between IU and GAD (or worry) using total scores on self-report measures. This ignores that there are different components exist in IU and the heterogeneity of GAD symptoms. In the present study, we explored the relations among different components of IU and symptoms of GAD. METHODS: A dimensional approach which take individual differences into consideration in different components of IU along a full range of normal to abnormal symptom severity levels of GAD were used in this study. Components of IU were measured by 12-item Intolerance of Uncertainty Scale and symptoms of GAD were measured by Generalized Anxiety Disorder 7-Item Questionnaire. Regularized partial-correlation network was estimated using cross-sectional data from 624 university students. RESULTS: Four strongest edges are between components of IU, like "Unforeseen events upset me greatly" and "It frustrates me not having all the information I need". Two strongest edges are between symptoms of GAD, like "Being so restless that it is hard to sit still" and "Feeling afraid as if something awful might happen". Symptom "Worrying too much about different things" and component "It frustrates me not having all the information I need" have the highest expected influences in the present network. In the community of IU, component "It frustrates me not having all the information I need" has the highest bridge expected influence. And in the community of GAD, symptoms "Worrying too much about different things" and "Not being able to stop or control worrying" have the highest bridge expected influence. CONCLUSIONS: This study reveals potential pathways between different components of IU and various symptoms of GAD. Understanding how putative risk factors such as different components of IU are related to symptoms of GAD may provide some references for related preventions and interventions, such as targeting component "It frustrates me not having all the information I need" may be more effective at reducing symptoms of GAD than targeting other components of IU.


Assuntos
Transtornos de Ansiedade , Ansiedade , Transtornos de Ansiedade/diagnóstico , Estudos Transversais , Humanos , Questionário de Saúde do Paciente , Incerteza
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(7): 626-630, 2021 Jul 10.
Artigo em Zh | MEDLINE | ID: mdl-34247364

RESUMO

OBJECTIVE: To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure. METHODS: The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants. RESULTS: In three female patients, head MRI showed nodular gray matter ectopic in the bilateral ventricle. WES identified the heterozygous c.2720del T(p.Leu907Argfs*39) variant of FLNA gene in case 1 and her mother (case 2), and heterozygous c.1387_1390del GTGC(p.Val463Profs*34) of FLNA gene in case 3. According to the American College of Medical Genetics and Genomics standards and guidelines, the c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC (p.Val463Profs*34) variants of FLNA gene were predicted to be pathogenic (PVS1+PM2+PP1) and likely pathogenic(PVS1+PM2), respectively. CONCLUSION: The c.2720delT(p.Leu907Argfs*39) and c.1387_1390del GTGC(p.Val463Profs*34) variants of FLNA gene may be the genetic cause of the three patients.


Assuntos
Epilepsia , Heterotopia Nodular Periventricular , Epilepsia/genética , Feminino , Filaminas/genética , Heterozigoto , Humanos , Imageamento por Ressonância Magnética , Mutação , Heterotopia Nodular Periventricular/genética , Convulsões
15.
Environ Res ; 191: 110046, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32841638

RESUMO

Locusts differ from ordinary grasshoppers in their ability to swarm over long distances and are among the oldest migratory pests. The ecology and biology of locusts make them among the most devastating pests worldwide and hence the calls for actions to prevent the next outbreaks. The most destructive of all locust species is the desert locust (Schistocerca gregaria). Here, we review the current locust epidemic 2020 outbreak and its causes and prevention including the green technologies that may provide a reference for future directions of locust control and food security. Massive locust outbreaks threaten the terrestrial environments and crop production in around 100 countries of which Ethiopia, Somalia and Kenya are the most affected. Six large locust outbreaks are reported for the period from 1912 to 1989 all being closely related to long-term droughts and warm winters coupled with occurrence of high precipitation in spring and summer. The outbreaks in East Africa, India and Pakistan are the most pronounced with locusts migrating more than 150 km/day during which the locusts consume food equivalent to their own body weight on a daily basis. The plague heavily affects the agricultural sectors, which is the foundation of national economies and social stability. Global warming is likely the main cause of locust plague outbreak in recent decades driving egg spawning of up to 2-400,000 eggs per square meter. Biological control techniques such as microorganisms, insects and birds help to reduce the outbreaks while reducing ecosystem and agricultural impacts. In addition, green technologies such as light and sound stimulation seem to work, however, these are challenging and need further technological development incorporating remote sensing and modelling before they are applicable on large-scales. According to the Food and Agriculture Organization (FAO) of the United Nations, the 2020 locust outbreak is the worst in 70 years probably triggered by climate change, hurricanes and heavy rain and has affected a total of 70,000 ha in Somalia and Ethiopia. There is a need for shifting towards soybean, rape, and watermelon which seems to help to prevent locust outbreaks and obtain food security. Furthermore, locusts have a very high protein content and is an excellent protein source for meat production and as an alternative human protein source, which should be used to mitigate food security. In addition, forestation of arable land improves local climate conditions towards less precipitation and lower temperatures while simultaneously attracting a larger number of birds thereby increasing the locust predation rates.


Assuntos
Gafanhotos , Animais , Surtos de Doenças , Ecossistema , Segurança Alimentar , Aquecimento Global , Humanos , Índia , Quênia , Paquistão
16.
Sensors (Basel) ; 20(17)2020 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-32842675

RESUMO

Hierarchical three-dimensional (3D) flower-like n-ZnO/p-NiO heterostructures with various ZnxNiy molar ratios (Zn5Ni1, Zn2Ni1, Zn1Ni1, Zn1Ni2 and Zn1Ni5) were synthesized by a facile hydrothermal method. Their crystal phase, surface morphology, elemental composition and chemical state were comprehensively investigated by XRD, SEM, EDS, TEM and XPS techniques. Gas sensing measurements were conducted on all the as-developed ZnxNiy-based sensors toward ammonia (NH3) detection under various working temperatures from 160 to 340 °C. In particular, the as-prepared Zn1Ni2 sensor exhibited superior NH3 sensing performance under optimum working temperature (280 °C) including high response (25 toward 100 ppm), fast response/recovery time (16 s/7 s), low detection limit (50 ppb), good selectivity and long-term stability. The enhanced NH3 sensing capabilities of Zn1Ni2 sensor could be attributed to both the specific hierarchical structure which facilitates the adsorption of NH3 molecules and produces much more contact sites, and the improved gas response characteristics of p-n heterojunctions. The obtained results clear demonstrated that the optimum n-ZnO/p-NiO heterostructure is indeed very promising sensing material toward NH3 detection for different applications.

17.
Eur Spine J ; 28(8): 1864-1871, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31011802

RESUMO

PURPOSE: To investigate the effects of cervical decompression operation on cardiac autonomic regulation and its relationship to recovery of somatic neurological function in cervical spondylotic myelopathy (CSM) patients. METHODS: One hundred and thirty-two consecutive patients were enrolled in this study, in which 73 patients received decompression operation and the remaining 59 were treated non-operatively. The follow-up period was 6 months. Baseline and follow-up evaluation included Japanese Orthopaedic Association (JOA) score, office-based blood pressure (BP) measurement, heart rate (HR), and 24-h heart rate variability (HRV) assessment. Relationship between achieved JOA score (final JOA score-baseline score) and changes of BP, HR, and HRV parameters in both operative and non-operative groups was analyzed. RESULTS: In operative group, patients' JOA score and markers of parasympathetic activity in HRV assessment were significantly higher than baseline level 6 months later. Blood pressure, especially systolic blood pressure (SBP), was significantly downregulated in both hypertension and non-hypertension patients. Mean heart rate was also significantly decreased. Furthermore, achieved JOA score was significantly negatively correlated with changes of SBP, minimal HR, mean HR, maximum HR, but significantly positively correlated with changes of HRV parameters reflecting parasympathetic activity. However, changes of JOA score, BP, HR, and HRV parameters in non-operative group were not significant. CONCLUSIONS: Cervical decompression operation could improve both somatic neurological function and cardiac autonomic regulation in CSM patients, and achieved JOA score was significantly positively correlated with improvement in HRV and cardiac parasympathetic activity. These slides can be retrieved under Electronic Supplementary Material.


Assuntos
Vértebras Cervicais/cirurgia , Descompressão Cirúrgica , Frequência Cardíaca/fisiologia , Doenças da Medula Espinal/cirurgia , Espondilose/cirurgia , Pressão Sanguínea/fisiologia , Seguimentos , Humanos
18.
Bioresour Technol ; 398: 130521, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38432547

RESUMO

Wastewater resource recovery not only allows the extraction of value-added products and offsets the operational costs of wastewater treatment, but it is also conducive to alleviating adverse environmental issues due to energy and chemical inputs and associated emissions. A number of attractive compounds such as alginate-like polymers, struvite, polyhydroxyalkanoates, and sulfated polysaccharides, were found and successfully obtained from wastewater and have a wide range of application prospects. The aim of this work is to provide a comprehensive review of recent advances in recovery of these popular products from wastewater, and their physicochemical properties, main sources, and current recovery status are summarized. Various factors influencing the recovery performance of these materials are thoroughly discussed. Moreover, the research needs and future directions towards wastewater resource recovery are highlighted. This study can provide valuable insights for future research endeavors aiming to improve wastewater resource recovery through the retrieval of high value-added products.


Assuntos
Poli-Hidroxialcanoatos , Águas Residuárias , Esgotos , Eliminação de Resíduos Líquidos , Polissacarídeos
19.
J Hazard Mater ; 476: 135002, 2024 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-38925050

RESUMO

Designing an electrode that can generate abundant free radicals and 1O2, which can effectively degrade and detoxify organophosphorus pesticides (OPPs) through a co-oxidation pathway, is important. In this study, we prepared a electrode GO/MoS2@AS by supporting MoS2 on alum sludge (AS) under graphene oxide (GO) nanoconfinement. The results show that the dominant role of 1O2 at the cathode and •OHads at the anode for degradation, in addition to the involvement of 1O2 in the cathodic degradation mechanism, can be attributed to the abundant precursor •O2- and H2O2. Furthermore, calculations using density functional theory and toxicity prediction of products show that the energy (∆E) requirements of •OHfree to break the C-O bond of the pyridine ring and phosphate group are higher than that required for 1O2, and this non-radical oxidation plays a key role in detoxification. In contrast, accelerating ring opening and oxidation processes are attributed to radical oxidation. Above all, the cathodic detoxification is more effective than anodic detoxification. Three prevalent OPPs, chlorpyrifos, glyphosate, and trichlorfon, were degraded in the GO/MoS2@AS system by over 90 %, with mineralization rates of 76.66 %, 85.46 %, and 82.18 %, respectively. This study provides insights into the co-oxidation degradation and detoxification mechanism mediated by 1O2 and •OHfree.

20.
Pest Manag Sci ; 80(4): 1940-1948, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38072821

RESUMO

BACKGROUND: The sterile insect technique (SIT) has proven to be an effective approach in managing the population of major invasive pests. Our previous studies showed that irradiation of Cydia pomonella males at a dosage of 366 Gy X-rays resulted in complete sterility. However, the mating competitiveness of sterilized males is significantly compromised, which can be attributed to a decline in their ability to fly. RESULTS: In this study, we examined the flight patterns of both male and female adults of C. pomonella. The results revealed significant variations in the average flight speed of both genders at different stages of maturity, with females displaying longer flight duration and covering greater distances. Effect of irradiation on the flight performance of 3-day-old male moths was further evaluated, as they demonstrated the longest flight distance. The findings indicated a significant decrease in flight distance, duration, and average speed, due to wing deformities caused by irradiation, which also limited the dispersal distance of moths in orchards, as indicated by the mark-and-recapture assay. Reverse-transcription quantitative polymerase chain reaction analysis revealed a down-regulation of flight-related genes such as Flightin, myosin heavy chain, and Distal-less following radiation exposure. CONCLUSION: These findings demonstrate that X-ray irradiation at a radiation dose of 366 Gy has a detrimental effect on the flight ability of male C. pomonella adults. These insights not only contribute to a better understanding of how radiation sterilization diminishes the mating competitiveness of male moths, but also aid in the development and improvement of SIT practices for the effective control of C. pomonella. © 2023 Society of Chemical Industry.


Assuntos
Infertilidade , Mariposas , Animais , Feminino , Masculino , Raios X
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