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Genotype and clinical phenotype analyses of 128 children were performed based on whole exome sequencing (WES), providing a reference for the provision of genetic counseling and the precise diagnosis and treatment of epilepsy. A total of 128 children with unexplained epilepsy were included in this study, and all their clinical data were analyzed. The children's treatments, epilepsy control, and neurodevelopmental levels were regularly followed up every 3 months. The genetic diagnostic yield of the 128 children with epilepsy is 50.8%, with an SNV diagnostic yield of 39.8% and a CNV diagnostic yield of 12.5%. Among the 128 children with epilepsy, 57.0% had onset of epilepsy in infancy, 25.8% have more than two clinical seizure forms, 62.5% require two or more anti-epileptic drug treatments, and 72.7% of the children have varying degrees of psychomotor development retardation. There are significant differences between ages of onset, neurodevelopmental levels and the presence of drug resistance in the genetic diagnostic yield (all p < 0.05). The 52 pathogenic/likely pathogenic SNVs involve 31 genes, with genes encoding ion channels having the largest number of mutations (30.8%). There were 16 cases of pathogenic/possibly pathogenic CNVs, among which the main proportions of CNVs were located in chromosome 15 and chromosome 16. Trio-WES is an essential tool for the genetic diagnosis of unexplained epilepsy, with a genetic diagnostic yield of up to 50.8%. Early genetic testing can provide an initiate appropriate therapies and accurate molecular diagnosis.
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Epilepsia , Secuenciación del Exoma , Predisposición Genética a la Enfermedad , Humanos , Epilepsia/genética , Epilepsia/diagnóstico , Masculino , Femenino , Niño , Preescolar , Lactante , Variaciones en el Número de Copia de ADN/genética , Mutación , Fenotipo , Adolescente , Pruebas Genéticas , Estudios de Asociación Genética/métodos , Exoma/genética , Genotipo , Polimorfismo de Nucleótido SimpleRESUMEN
AIM: To explore the clinical characteristics and prognostic predictors of Guillain-Barré syndrome (GBS) in Chinese paediatric patients. METHOD: The clinical features of children with GBS hospitalized in the Children's Hospital of Chongqing Medical University were summarized retrospectively. The correlation between the Erasmus GBS Outcome Score (EGOS)/modified Erasmus GBS Outcome Score (mEGOS), GBS disability score (GDS)/modified Rankin Scale (MRS), Erasmus GBS Respiratory Insufficiency Score (EGRIS), and mechanical ventilation were evaluated. RESULTS: One hundred forty-two patients (86 males, 56 females; median 62.50 months [interquartile range 41.00-97.50]) with classic GBS were enrolled in the study. In the present GBS cohort, 134 (94.37%) patients could walk independently (GDS ≤2) and 121 (85.21%) could manage without assistance (MRS ≤2) at 6 months. Eighteen (12.68%) patients with GBS required mechanical ventilation. The performance of mEGOS on admission, mEGOS on day 7, and EGOS-predicted GDS outcome at 4 weeks, 3 months, and 6 months in the paediatric patients with GBS admitted within 2 weeks of disease onset and that of the MRS outcome were evaluated. The EGRIS in individuals who required mechanical ventilation was significantly higher than in patients without mechanical ventilation (median = 6 vs median = 3, p < 0.001). INTERPRETATION: In Chinese paediatric patients with GBS who were admitted 2 weeks after disease onset, the mEGOS and EGOS are validated indicators for the prediction of clinical outcomes 6 months after onset. EGRIS is helpful in predicting the implementation of mechanical ventilation in the acute phase. WHAT THIS PAPER ADDS: The Erasmus Guillain-Barré syndrome (GBS) Outcome Score (EGOS) and modified EGOS are reliable prognostic predictors in paediatric patients with GBS. The Erasmus GBS Respiratory Insufficiency Score (EGRIS) is an effective predictor of mechanical ventilation in paediatric patients with GBS. An EGRIS of ≥5 indicates a high risk of mechanical ventilation in the acute phase.
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Síndrome de Guillain-Barré , Insuficiencia Respiratoria , Masculino , Femenino , Humanos , Niño , Pronóstico , Estudios Retrospectivos , Reproducibilidad de los Resultados , Respiración ArtificialRESUMEN
OBJECTIVE: Evidence-based medicine was used to evaluate the efficacy and safety of tranexamic acid in patients with intracerebral hemorrhage. METHODS: Pubmed (MEDLINE), Embase, and Cochrane Library were searched from January 2001 to October 2020 for randomized controlled trials (RCTs), cohort studies, and retrospective case series .The Jadad scale and RevMan software version 5.3 were used for literature quality assessment and meta-analysis. RESULTS: In total, 4 randomized controlled trials and 1 retrospective case series with 2808 participants were included in the meta-analysis. Compared with control intervention in intracerebral hemorrhage, tranexamic acid could significantly reduce growth of hemorrhagic mass (odds ratio (OR) =0.81; 95% confidence interval(CI)=0.68 to 0.99; p = 0.04) and Modified Rankin Scale score (MRS) at 90 days at 0-3 (OR = 1.20; 95% CI = 1.00 to 1.43; p = 0.05), mortality by day 90 (OR= 1.03; 95% CI= 0.85-1.25; p = 0.77) and major thromboembolic events (OR= 1.14; 95% CI= 0.73-1.77; p = 0.58). CONCLUSIONS: Treatment with tranexamic acid could reduce hematoma expansion in intracerebral hemorrhage, and the treatment was safe with no increase in thromboembolic complications. But showed no notable impact on good functional outcomes and mortality.
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Antifibrinolíticos , Ácido Tranexámico , Humanos , Ácido Tranexámico/efectos adversos , Antifibrinolíticos/efectos adversos , Hemorragia Cerebral/tratamiento farmacológico , Estudios de Cohortes , Hematoma , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
BACKGROUND: Intracranial aneurysms associated with cerebral arteriovenous malformations (AVMs) are a rare condition in the clinic, and treatment is very difficult due to their particular anatomical features. We present our experience in the treatment of intracranial aneurysms with AVMs and evaluate the effectiveness and safety of endovascular treatment combined with microsurgical resection (the hybrid operation). METHODS: This was a single-center retrospective study in our neurosurgical department from January 2015 to January 2021. We collected clinical data from 48 patients with intracranial aneurysms associated with AVMs and categorized them according to Redekop classifications according to the results of cerebral imaging examination to compare the therapeutic effects of endovascular embolization and the hybrid operation. RESULTS: Compared to nonaneurysmal AVMs, intracranial aneurysms with AVMs more often presented with intracranial hemorrhage (P<0.05). Massive hematoma and severe neurological impairment were more often found in patients with intracranial aneurysms with AVMs (P<0.05). For flow-related aneurysms, the hybrid surgery had a higher one-stage cure rate than endovascular embolization alone (P<0.05). Both treatment methods had similar effects on intranidal aneurysms (P>0.05). There were no significant differences in prognostic indicators between the two treatments. However, the recurrence rate of AVMs with proximal flow-related aneurysms was lower in patients who underwent the hybrid operation (P<0.05). CONCLUSION: The hybrid operation was safe and effective for patients with intracranial aneurysms associated with AVMs. For flow-related aneurysms, the one-stage cure rate was higher and the recurrence rate was lower with the hybrid operation than with endovascular embolization alone.
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Embolización Terapéutica , Aneurisma Intracraneal , Malformaciones Arteriovenosas Intracraneales , Embolización Terapéutica/efectos adversos , Embolización Terapéutica/métodos , Humanos , Aneurisma Intracraneal/diagnóstico por imagen , Aneurisma Intracraneal/cirugía , Malformaciones Arteriovenosas Intracraneales/complicaciones , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Malformaciones Arteriovenosas Intracraneales/cirugía , Hemorragias Intracraneales/terapia , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Depression is one of most common psychiatric disorders, and the detailed molecular mechanism remains to be fully elucidated. Brain-derived neurotrophic factor (BDNF) is a critical neurotrophic factor that is decreased and closely involved in the development of depression. Noncoding RNAs are central regulators of cellular activities that modulate target genes. However, the roles of long noncoding RNA (lncRNA) MIR155HG and miRNA-155 (miR-155) in the pathophysiology of depression are unclear. In the present study, we aimed to explore the effects of lncRNA MIR155HG and miR-155 on the development of depression and uncover the underlying molecular mechanism. Real-time quantitative polymerase chain reaction was used to examine the expression of MIR155HG and miR-155. Western blotting was applied to measure the expression of BDNF. A luciferase reporter assay was utilized to determine the regulatory relationship between MIR155HG and miR-155. Our current work found that lncRNA MIR155HG and BDNF levels decreased while miR-155 levels increased in the hippocampal region of CUMS (chronic unpredictable mild stress) mice, a well-accepted mouse model of depression. Moreover, MIR155HG rescued while miR-155 exacerbated the depression-like behaviors of CUMS mice. Through bioinformatics analysis and luciferase reporter assays, we found that MIR155HG directly bound to and negatively modulated the expression of miR-155. Moreover, increased miR-155 was found to repress the expression of BDNF, a critical neurotrophic factor that has been reported to alleviate the depression-like behaviors of CUMS mice. Our present study revealed that lncRNA MIR155HG protected CUMS mice by regulating the miR-155/BDNF axis. Our study aimed to understand the pathophysiology of depression and provided potential therapeutic targets to diagnose and treat depression.
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Factor Neurotrófico Derivado del Encéfalo/metabolismo , Depresión/fisiopatología , MicroARNs/metabolismo , ARN Largo no Codificante/metabolismo , Animales , Depresión/etiología , Depresión/metabolismo , Regulación hacia Abajo/fisiología , Técnicas de Silenciamiento del Gen , Hipocampo/metabolismo , Masculino , Ratones Endogámicos C57BL , MicroARNs/genética , Transducción de Señal/fisiologíaRESUMEN
BACKGROUND: This study aimed to investigate the association between nutritional characteristics in patients with refractory convulsive status epilepticus. METHODS: We retrospectively enrolled 73 patients with refractory convulsive status epilepticus over 18 years of age at the West China Hospital between January 2017 and May 2019. All patients met the 2016 International League Against Epilepsy diagnostic criteria for refractory convulsive status epilepticus. A logistic regression model was used to evaluate the association between malnutrition and refractory convulsive status epilepticus. RESULTS: Of the 73 patients with refractory convulsive status epilepticus, 33 (45.21 %) suffered from malnutrition during hospitalization, and duration of hospitalization in days (OR = 1.251; 95 % CI,-1.067-1.384; P = 0.007), nasal feeding (OR = 22.623; 95 % CI: 1.091-286.899; P = 0.013), and malnutrition on admission (OR = 30.760; 95 % CI: 1.064-89.797; P = 0.046) were significantly associated with malnutrition in patients with refractory convulsive status epilepticus. CONCLUSIONS: Malnutrition is a common complication during hospitalization in patients with refractory convulsive status epilepticus. The duration of hospitalization (days), nasal feeding, and malnutrition at admission are associated with malnutrition in patients with refractory convulsive status epilepticus. Further longitudinal studies are needed to identify the relationship between refractory convulsive status epilepticus and adverse outcomes.
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Epilepsia Refractaria , Estado Epiléptico , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Epilepsia Refractaria/tratamiento farmacológico , Hospitalización , Humanos , Estado Nutricional , Estudios Retrospectivos , Estado Epiléptico/tratamiento farmacológico , Estado Epiléptico/terapiaRESUMEN
OBJECTIVE: To investigate Diego blood group alleles in the Chinese Korean population. The Diego blood group system plays an important role in transfusion medicine, but the distribution of the blood group in many Chinese ethnic populations remains unclear. METHODS: Sequence Specific Primer Polymerase Chain Reaction (SSP-PCR) was used for Diego genotyping and sequence-based typing PCR (PCR-SBT) was used to verify single nucleotide polymorphisms in the coding region of SLC4A1 starting from exon 19. Nine hundred and ten samples from the Chinese Korean population were investigated. RESULTS: The frequency of the DI*01 and DI*02 alleles in the Chinese Korean population was 0.0516 and 0.9484, respectively. The most predominant genotype was DI*02/DI*02, with a frequency of 90.22 % (821/910). The frequency of DI*01/DI*02 was 9.23 % (84/910) and that of DI*01 /DI*01 was 0.55 % (5/910). The genotype distributions of the Diego blood group conformed to the Hardy-Weinberg equilibrium (P > 0.05). CONCLUSION: The data obtained from this study will be helpful for the creation of a donor database to provide antigen-negative blood to patients with allo-antibodies. Genotyping can be used as a substitute for the serological technique when antisera are unavailable and is suitable for screening a large number of donors for rare-blood-group databases.
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Tipificación y Pruebas Cruzadas Sanguíneas/métodos , Alelos , Pueblo Asiatico , Donantes de Sangre , Femenino , Genotipo , Humanos , Masculino , República de CoreaRESUMEN
BACKGROUND: Dexmedetomidine is widely used for non-invasive pediatric procedural sedation. However, the hemodynamic effects of intravenous dexmedetomidine are a concern. There has been a growing interest in the application of intranasal dexmedetomidine as a sedative in children. OBJECTIVE: To investigate the incidence of bradycardia in children undergoing intranasal dexmedetomidine sedation and to identify the associated risk factors. METHODS: Data pertaining to pediatric patients who underwent intranasal dexmedetomidine sedation for non-invasive investigations at the Kunming Children's Hospital between October 2017 and August 2018 were retrospectively analyzed. RESULTS: Out of 9984 children who qualified for inclusion, 228 children (2.3%) developed bradycardia. The incidence of bradycardia in the group that received additional dose of dexmedetomidine was higher than that in the group that did not receive additional dose (9.2% vs 16.7%; P = .003). The incidence of bradycardia in males was higher than that in females (2.6% vs 1.8%; P = .007). On multivariate logistic regression, only male gender showed an independent association with the occurrence of bradycardia (odds ratio 1.48; 95% confidence interval 1.11-1.97; P = .008). CONCLUSIONS: The overall incidence of bradycardia in children after sole use of intranasal dexmedetomidine sedation was 2.3%. Male children showed a 1.48-fold higher risk of bradycardia. However, the blood pressure of the children who developed bradycardia was within the normal range. Simple wake-up can effectively manage bradycardia induced by intranasal dexmedetomidine sedation.
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Bradicardia/inducido químicamente , Dexmedetomidina/efectos adversos , Hipnóticos y Sedantes/efectos adversos , Administración Intranasal , Niño , Preescolar , China , Dexmedetomidina/administración & dosificación , Femenino , Humanos , Hipnóticos y Sedantes/administración & dosificación , Incidencia , Lactante , Masculino , Estudios Retrospectivos , Factores de RiesgoRESUMEN
OBJECTIVE: This retrospective study evaluated the safety and effectiveness of sevoflurane anesthesia by facemask for magnetic resonance imaging (MRI) scanning among pediatric patients in a high-volume MRI department. METHODS: The medical records of 7129 pediatric patients (median age 12 months, range 4.0-36.0 months) who were administered anesthesia during MRI scanning were reviewed. Anesthesia via 8% and 1.5%-2% sevoflurane was used for induction and maintenance, respectively. All the patients were monitored by anesthetists in the postanesthesia care unit. Vital signs were recorded every 5 minutes. Airway-related adverse events, sevoflurane induction time, MRI scanning time, and recovery time were recorded. Patients were discharged when no complications were found for 10-15 minutes, with Aldrete's score ≥9. RESULTS: After sevoflurane anesthesia, there were 28 severe airway-related adverse events (0.4%, 95% CI: 0.2%-0.5%), and 12 patients had severe respiratory apnea (0.2%, 95% CI: 0.1%-0.2%). The percentage of patients with respiratory apnea was significantly higher in preterm infants compared with term infants (2.4% cf. 0.5%, P = 0.012). Sixteen patients had severe airway obstruction (0.2%, 95% CI: 0.1%-0.3%). CONCLUSION: The major severe airway-related adverse events among pediatric patients associated with sevoflurane anesthesia were respiratory apnea and airway obstruction. The respiratory condition of preterm infants should be monitored carefully when under sevoflurane anesthesia. Overall, sevoflurane is safe and can be used efficiently for pediatric anesthesia in high-volume MRI departments.
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Anestesia por Inhalación/efectos adversos , Anestésicos por Inhalación/efectos adversos , Imagen por Resonancia Magnética , Sevoflurano/efectos adversos , Apnea/inducido químicamente , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Masculino , Estudios RetrospectivosRESUMEN
Mesencephalic astrocyte-derived neurotrophic factor (MANF) is a member of the novel evolutionary conserved neurotrophic factor (NTF) family. MANF has a unique structure and an unparalleled dual mode of action that differs from other known NTFs. Recent studies have shown that MANF protects cells from endoplasmic reticulum stress. In addition, an increasing number of studies have found MANF plays an important role in nervous system disease. This review focuses on MANF, summarizing its unique structure, potential signaling pathway, and role in neurological disease.
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Factores de Crecimiento Nervioso/metabolismo , Enfermedades del Sistema Nervioso/metabolismo , Animales , Humanos , Factores de Crecimiento Nervioso/química , Transducción de SeñalRESUMEN
A method for dye laser wavelength correction applied for the measurement of OH radical with FAGE (Fluorescence Assay by Gas Expansion) is researched in this article. Sufficiently stable concentration of OH radical is produced with thermal dissociation of H2O by using an alumel filament and the fluorescence is excited with 282 nm laser in a low pressure cell. The fluorescence is detected with a photomultiplier and a high speed data acquisition card, while the laser light is monitored by a photodiode, and both signals are handled by a LabVIEW program for further analysis. The data acquisition card is triggered by a positive TTL pulse generated by a digital delay generator, which is triggered by a rising edge of a synchronized output pulse of the dye laser. The LabVIEW program is used to determine the location of the OH excited line according to the fluorescence intensity of OH radical when the frequency of the dye laser is scanned. By scanning dye laser wavelength range in 281.97~282.28 nm, excitation spectrum of OH radical is recorded. In order to optimize system parameters and achieve a high signal-to-noise ratio, the effects of the humidity, oxygen concentration, mass flow and pumping speed on fluorescence intensity and lifetime are studied at Q12 line and less than ±1.9% fluctuations of the fluorescence intensity is obtained. With analysis of the reaction mechanism of the thermal dissociation of H2O, it is concluded that reaction of oxygen and water is a major source of OH radical. Laser output wavelength is scanned in a small range around Q12 line to find out the exact exciting line and then correct the laser's output, which might slightly shift due to the environmental change and leads to reduction of fluorescence intensity. The wavelength correction procedure is implemented many times and the results show that the systematic error of the instrument is less than 0.1 pm. According to the experimental results, this method meets the needs of quantitative accurate measuring tropospheric OH radical by FAGE.
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Fluorescencia , Rayos Láser , Oxígeno , AguaRESUMEN
A new type of fiber coupling Long-Path Differential Optical Absorption Spectroscopy System(LP-DOAS) based on schmidt - cassegrain telescope was introduced in detail in this paper and it was applied to the accurate measurement of the actual atmospheric HONO and NO2. This measuring system simplified the structure of traditional LP-DOAS system, combining with the design of optical fiber coupling.It made full use of the telescope primary mirror's effective area. The effects of the offset, dark current and telescope stray light to the new LP-DOAS system were discussed in this paper; On a clear day, the ratio between telescope stray light and the optical intensities was less than 1%. To verify the accurate of the new LP-DOAS system, the atmospheric NO2 were simultaneously measured with the new LP-DOAS system and traditional LP-DOAS system. The correlation coefficient R2 was up to 0.968. The observation of atmospheric HONO was carried out by using the fiber coupling LP-DOAS in Gucheng, Hebei Province, China, and the detection limit (2σ) of HONO and NO2 was 84.2 and 144.6 ppt , respectively, with 2 490 m path length and the average time resolution of about 30 s. In the whole measurement in Gucheng, the maximum of HONO and NO2 were 3.2 and 37.8 ppb, respectively, and the minimum were both under the detection limits; the ratio of HONO/NO2 at night was calculated.
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Rasgo Drepanocítico/genética , Animales , Modelos Animales de Enfermedad , Humanos , Masculino , Ratones , Ratones TransgénicosRESUMEN
OBJECTIVE: The purpose of this report is to analyze the cause of allergic transfusion reaction. METHODS: The methods of immunoblot and immunonephelometry were applied to detect the levels of the immunoglobulins of IgA (Immunoglobulin A) and IgE (Immunoglobulin E) and the level of sIgE (specific Immunoglobulin E) to shrimp allergen both in the patient's pre and post transfusion blood samples, respectively. RESULTS: After transfusion, The level of sIgE to shrimp showed "increase" corresponding to the concentration of 0.70-3.5 IU/ml. CONCLUSION: The allergic transfusion reaction was very likely caused by passive transfer of shrimp antigen to the patient allergic to shrimp.
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Alérgenos/sangre , Donantes de Sangre , Reacción a la Transfusión/diagnóstico , Animales , Hipersensibilidad a los Alimentos , Humanos , Inmunoglobulina A/sangre , Inmunoglobulina A/inmunología , Inmunoglobulina E/sangre , Inmunoglobulina E/inmunología , Masculino , Persona de Mediana Edad , Nefelometría y Turbidimetría , PenaeidaeRESUMEN
Research is conducted to accurate and efficient algorithms for extracting ring-down time (r) in cavity ring-down spectroscopy (CRDS) which is used to measure NO3 radical in the atmosphere. Fast and accurate extraction of ring-down time guarantees more precise and higher speed of measurement. In this research, five kinds of commonly used algorithms are selected to extract ring-down time which respectively are fast Fourier transform (FFT) algorithm, discrete Fourier transform (DFT) algorithm, linear regression of the sum (LRS) algorithm, Levenberg-Marquardt (LM) algorithm and least squares (LS) algorithm. Simulated ring-down signals with various amplitude levels of white noises are fitted by using five kinds of the above-mentioned algorithms, and comparison and analysis is conducted to the fitting results of five kinds of algorithms from four respects: the vulnerability to noises, the accuracy and precision of the fitting, the speed of the fitting and preferable fitting ring-down signal waveform length The research results show that Levenberg-Marquardt algorithm and linear regression of the sum algorithm are able to provide more precise results and prove to have higher noises immunity, and by comparison, the fitting speed of Leven- berg-Marquardt algorithm turns out to be slower. In addition, by analysis of simulated ring-down signals, five to ten times of ring-down time is selected to be the best fitting waveform length because in this case, standard deviation of fitting results of five kinds of algorithms proves to be the minimum. External modulation diode laser and cavity which consists of two high reflectivity mirrors are used to construct a cavity ring-down spectroscopy detection system. According to our experimental conditions, in which the noise level is 0.2%, linear regression of the sum algorithm and Levenberg-Marquardt algorithm are selected to process experimental data. The experimental results show that the accuracy and precision of linear regression of the sum algorithm is considerably close to those of Levenberg-Marquardt algorithm, and on the other hand, the fitting speed of linear regression of the sum algorithm is faster than that of Levenberg-Marquardt algorithm about five times. The experimental results are consistent with the simulation analysis, and it indicates that linear regression of the sum algorithm is the desirable fitting method, as far as our experimental conditions are concerned.
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Dehydroandrographolide (DA) was isolated and experimentally characterized utilizing FT-IR, UV-Vis, and NMR spectroscopy techniques along with detailed theoretical modelled at the DFT/B3LYP-D3BJ/6-311 + + G(d,p) level of theory. Substantially, molecular electronic property investigations in the gaseous phase alongside five different solvents (ethanol, methanol, water, acetonitrile and DMSO) were comprehensively reported and compared with the experimental results. The globally harmonized scale (GHS), which is used to identify and label chemicals, was also utilized to demonstrate that the lead compound predicted an LD50 of 1190 mg/kg. This finding implies that consumers can safely consume the lead molecule. Notable impacts on hepatotoxicity, cytotoxicity, mutagenicity, and carcinogenicity were likewise found to be minimal to nonexistent for the compound. Additionally, in order to account for the biological performance of the studied compound, in-silico molecular docking simulation analysis was examined against different anti-inflammatory target of enzymes (3PGH, 4COX, and 6COX). From the examination, it can be inferred that DA@3PGH, DA@4COX, and DA@6COX, respectively, showed significant negative binding affinities of -7.2 kcal/mol, -8.0 kcal/mol, and - 6.9 kcal/mol. Thus, the high mean binding affinity in contrast to conventional drugs further reinforces these results as an anti-inflammatory agent.
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Antiinflamatorios , Diterpenos , Espectrometría Raman , Simulación del Acoplamiento Molecular , Espectroscopía Infrarroja por Transformada de Fourier , Espectroscopía de Resonancia Magnética , Antiinflamatorios/farmacología , Espectrofotometría UltravioletaRESUMEN
BACKGROUND: The current conclusions of molecular genetics still cannot satisfactorily explain the pathogenesis of focal cortical dysplasia (FCD) and the reason for drug resistance. The interneurons of GABA deserve attention. To observe the distribution and changes of GABAergic neurons and to explore the expression of cation chloride cotransporter NKCC1/KCC2 in focal cortical dysplasia (FCD) type II lesions is a highly significant job. METHODS: The expressions of GAD67(a marker of active GABAergic neuron), NKCC1 and KCC2 were detected by immunohistochemistry and immunohistochemistry double staining in 10 cases of FCD â ¡a and 10 cases of FCD â ¡b. The number of GAD67 positive neurons was counted, and the average absorbance (IA) of NKCC1 positive expression was measured, using Image Pro-Plus7.0 software. The data were statistically analyzed. RESULTS: The density of GABAergic neuron in focal dysplastic regions was significantly lower than that in the histologically "normal" cerebral cortex, regions from the same specimen (p < 0.0001, t-test). Compared to the NKCC1 staining intensity of neurons in the control group (measuring 1000 cells each), the IA value of dysmorphic neurons was significantly increased (p < 0.05, t'-test Cochran & Cox method). Intracytoplasmic concentration of KCC2 was evident in dysmorphic neurons but not in the other mature neurons. Most of the balloon cells were negative for NKCC1, except for few balloon cells showing sparse colored particles. The expression of KCC2 was negative in all balloon cells. CONCLUSIONS: The changes in the expression of NKCC1 and KCC2 may indicate that dysmorphic neurons were in a state similar to that of immature neurons. This state may be related to the abnormal electrophysiology of epilepsy. The difference between the number of GAD67 positive cells in the lesion site and the remote site of the same case may be an evaluation index of the effectiveness of surgery.
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Epilepsia , Displasia Cortical Focal , Simportadores , Humanos , Epilepsia/etiología , Neuronas GABAérgicas/metabolismo , Simportadores/metabolismoRESUMEN
Various drugs such as corticosteroids, salbutamol, and ß2 agonist are available for the treatment of asthma an inflammatory disease and its symptoms, although the ingredient and the mode of action of these drugs are not clearly elucidated. Hence this research aimed at carrying out improved scientific research with respect to the use of natural product rosmarinic acid which poses minima, side effects. Herein, we first carried out extraction, isolation, and spectroscopic (FT-IR, 1H-NMR and 13C-NMR) investigation, followed by molecular modeling analysis on the naturally occurring rosmarinic acid extracted from Rosmarinus officinalis. A detailed comparison of the experimental and theoretical vibrational analysis has been carried out using five DFT functionals: BHANDH, HSEH1PBE, M06-2X, MPW3PBE and THCTHHYB with the basis set 6-311++G (d, p) to investigate into the structural, reactivity, and stability of the isolated compound. Frontier molecular orbital analysis and appropriate quantum descriptors were calculated. Results showed that the compound was more stable at M06-2X and more reactive at HSEH1PBE with an energy gap of 6.43441 eV and 3.8047 eV, respectively, which was later affirmed by the global quantum reactivity parameters. From natural bond orbital analysis, π* âπ* is the major contributor to electron transition with the summation perturbation energy of 889.57 kcal/mol, while π âπ* had the perturbation energy totaling of 145.3 kcal/mol. Geometry analysis shows BHANDH to have lower bond length values and lesser deviation from 120° in carbon-carbon angle. The potency of the title molecule as an asthma drug was tested via a molecular docking approach and the binding score of -8.2 kcal/mol was observed against -7.0 of salbutamol standard drug, suggesting romarinic acid as a potential natural organic treatment for asthma.Communicated by Ramaswamy H. Sarma.
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Asma , Intuición , Humanos , Simulación del Acoplamiento Molecular , Espectroscopía Infrarroja por Transformada de Fourier , Teoría Cuántica , Albuterol , Carbono , Espectrometría Raman , Espectrofotometría Ultravioleta , Vibración , Termodinámica , Ácido RosmarínicoRESUMEN
Human tissue factor pathway inhibitor-2 (TFPI-2) has been implicated as a metastasis-associated gene in many types of tumors. In this study, we investigated whether TFPI-2 was inactivated epigenetically in pediatric acute myeloid leukemia (AML). Methylation status was investigated by methylation-specific polymerase chain reaction and bisulfate genomic sequencing. TFPI-2 was aberrantly methylated in 50% (3/6) of AML cell lines. Aberrant methylation of TFPI-2 promoter was detected in 71.6% (48/67) of the Chinese pediatric AML patients. TFPI-2 transcript was significantly lower in AML group compared with controls (3.44 vs. 32.8, P<0.001). Patients with methylated TFPI-2 gene had significantly lower TFPI-2 transcript than those patients without methylated TFPI-2 (P=0.04). Promoter hypermethylation of TFPI-2 is frequent and specific event in pediatric AML.
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Metilación de ADN , Glicoproteínas/genética , Leucemia Mieloide Aguda/genética , Regiones Promotoras Genéticas , Adolescente , Línea Celular Tumoral , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , ARN Mensajero/análisisRESUMEN
Influences of LEDs (without etalon structure and center wavelengths are respectively 370 nm (near-UV), 452 nm (blue) and 660 nm(red)) temperature shifts on differential optical absorption spectroscopy(DOAS) for measuring NO2 were studied. NO2 absorption spectra were formed using LED emitting spectra at 10 degrees C. The measured LED spectra at other temperatures were used as reference spectra of DOAS. Thus, NO2 differential optical densities under different LED temperature shifts were acquired and then NO2 differential cross-sections were fitted to the acquired differential optical densities. From fitting results, the linear relations of 0.995, 0.945 and 0.989 correlation between delta of fitting residual and near-UV, blue and red LEDs temperature shifts were found and their slopes are respectively 1.12 x 10(-3), 5.25 x 10(-5) and 7.45 x 10(-4) degrees C(-1). The fitting results show that the influence of temperature shifts of blue LED on DOAS retrieval is negligible and the temperature shifts of near-UV and red LED are impressible to DOAS measurement resulting in degradation of detection sensitivity. The retrieval results of blue LED with and without etalon with similar temperature properties were compared and showed that etalon of LED will greatly increase the influence of temperature shifts of LED on DOAS retrieval.