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This article reports the results of tandem mass spectrometry and the mutation features of the ETFDH gene for an infant with multiple acyl-CoA dehydrogenase deficiency. The results of tandem mass spectrometry showed that C14 : 1, C8, C6, C10, and C12 increased. Exon sequencing was performed on this infant and his parents and revealed double heterozygous mutations in the ETFDH gene of the infant: c.992A>T and c.1450T>C. The former was inherited from his mother, and the latter was inherited from his father. c.1450T>C was shown to be the pathogenic mutation in the HGMD database. PolyPhen2, SIFT, and PROVEAN all predicted that the novel mutation c.992A>T might be pathogenic, and the mutant amino acids were highly conserved across various species. The findings expand the mutation spectrum of the ETFDH gene, and provide molecular evidence for the etiological diagnosis of the patient with multiple acyl-CoA dehydrogenase deficiency as well as for the genetic counseling and prenatal diagnosis in the family.
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Flavoproteínas Transportadoras de Electrones/genética , Proteínas Hierro-Azufre/genética , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/genética , Oxidorreductasas actuantes sobre Donantes de Grupo CH-NH/genética , Secuencia de Bases , Exones , Humanos , Recién Nacido , Masculino , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/enzimología , MutaciónRESUMEN
AIMS: To examine the pattern and extent of cardiovascular developmental alterations among children conceived by assisted reproductive technology (ART) and its association with potential confounders. METHODS: The present study was a prospective single-blind pilot design lasting 15 months. The ART group was recruited by a non-random, consecutive sample on the basis of the unique personal identification number assigned to ART children, whereas spontaneous conception controls were recruited by a population-based random sample from the same hospital by age. Echocardiography was available for the measurement of 128 ART children and 100 controls with respect to cardiovascular geometric morphology and cardiac function. RESULTS: The majority of cardiac geometric morphology parameters were comparable among the study groups (P>0.05), except for significant increases in left ventricular (LV) relative wall thickness (P=0.038), LV mass index (P=0.005) and LV remodeling index (P=0.005) in ART children after adjustment for age, gender, body surface area and heart rate. The results showed similarity in LV systolic function characterized by ejection fraction (P=0.140) and shortening fraction (P=0.167) between the groups. However, ART children had a significant tendency toward a decrease in mitral A (P=0.008) and mitral E' (P=0.012) compared with controls after adjusting for confounders. Additionally, Cox analysis suggested an independent association (P<0.05) of anthropometrics and perinatal outcomes in addition to the ART procedure itself with the differences in cardiac developmental status. CONCLUSION: Our findings support the presence of remodeling in the left cardiac geometric morphology and diastolic dysfunction and the absence of any change to the aortocoronary morphometry or systolic function in ART children compared with controls, which may be independently associated with the anthropometrics and perinatal outcomes in addition to the ART procedure.
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Corazón/crecimiento & desarrollo , Técnicas Reproductivas Asistidas , Niño , Femenino , Humanos , Masculino , Proyectos Piloto , Método Simple CiegoRESUMEN
A fuzzy adaptive tracking control scheme is studied for a family of uncertain systems with immeasurable system states. The controller takes up few computation and transmission resources to achieve prescribed boundaries of the dynamic and steady-state performance indicators. Compared with the existing schemes, the low computational complexity is reflected in the following two points: (1) a fuzzy state observer is introduced, where only the estimation of states are incorporated into the input space of fuzzy logic systems (FLSs). (2) The problem of complexity explosion can be avoided without utilizing additional command filters or auxiliary dynamic surface control techniques. In addition, using the event-triggered control scheme, the data in the transmission is significantly reduced. Finally, the effectiveness of the scheme is fully verified by simulation.
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This paper is devoted to the prescribed performance control (PPC) for a class of strict-feedback nonlinear systems with input saturation constraints. With the help of an improved tuning function, the system can achieve the desired steady-state and transient performance in the pre-designed time. A new error transformation function is introduced, which has inherent robustness, so it does not need to use any approximation technique or calculate the analytical derivative. Compared with the relevant results, the proposed scheme has the same lower complexity, but better transient and steady-state performance, although there exists uncertain nonlinearity and uncertain disturbances in the system. Finally, the correctness of the above algorithm is verified by simulation experiments.
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PROBLEM: Endometriosis patients undergoing in vitro fertilization-embryo transfer (IVF-ET) treatment suffer from poor oocyte quality, a reduced likelihood of the fertilization rate, and low embryo quality. The dysregulation of immune cells and cytokine profiles in the follicular fluid (FF) may play an important role in the competence of the oocyte and the development of the embryo, but the mechanism remains largely unknown. METHOD OF STUDY: A total of 40 proved advanced staged endometriosis patients were enrolled in this study. The pregnancy results were followed until all the embryos collected by the first oocyte retrieval cycle were used up. The immune cells subtypes in FF and serum collected on the day of oocyte retrieval were detected by flow cytometry and 27 cytokines were determined using the Bio-Plex Pro Human Cytokine 27-Plex Immunoassay. The specific effect of cytokine on the gene expression of human granulosa cells was determined by RT-qPCR. RESULTS: The fertilization rate and the cumulative live birth rate were significantly lower in the endometriosis group. The ratio of CD4+ /CD8+ T cells in FF was significantly lower, while the level of IP-10, RANTES and G-CSF were statistically higher in the endometriosis group. The level of IP-10 correlated with the IVF outcome. Moreover, treated by IP-10, the mRNA level of FSHR and CYP19A1 the human granulosa cells were downregulated in vitro. CONCLUSION: These results suggest that alterations of the lymphocyte subsets and cytokines in women with advanced endometriosis may have an impact on the oocyte development and resulting in poorer IVF outcomes.
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Endometriosis , Infertilidad Femenina , Embarazo , Humanos , Femenino , Líquido Folicular/metabolismo , Endometriosis/metabolismo , Infertilidad Femenina/metabolismo , Linfocitos T CD8-positivos/metabolismo , Quimiocina CXCL10/metabolismo , Fertilización In Vitro/métodos , Citocinas/metabolismoRESUMEN
Electroacupuncture may play a role in treatment of learning and memory impairment after ischemic stroke by regulating phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt) signaling pathway, cyclic adenosine monophosphate (cAMP)-dependent protein kinase A (PKA)/cAMP response element binding protein (CREB) signaling pathway, nerve growth factor (NGF)/tyrosine kinase-A (TrkA) signaling pathway, Janus kinase 2 (JAK2)/signal transducer and activator of transcription 3 (STAT3) signaling pathway, Notch signaling pathway, erythropoietin-producing hepatocyte (Eph)/ephrin signaling pathway. The interactions among these pathways should be further explored in treatment of learning and memory impairment after ischemic stroke.
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Electroacupuntura , Accidente Cerebrovascular Isquémico , Humanos , Aprendizaje , Transducción de Señal/fisiologíaRESUMEN
AIMS: To determine whether mucosal pain, evoked through a novel topical capsaicin model, has an effect on jaw movement and whether psychologic factors have an association with any pain-induced movement effects. METHODS: Mandibular movement was recorded from 26 asymptomatic subjects during free opening and closing, resistant opening jaw movements, and free and standardized chewing, at baseline and in test sessions while the subjects were wearing a custom maxillary mouthguard coated with either capsaicin cream (pain group, 13 subjects) or placebo cream (control group, an additional 13 subjects). All subjects completed the Depression Anxiety Stress Scales (DASS) and the Pain Catastrophizing Scale (PCS). Statistical analyses were made with independent t tests and bivariate correlation analyses. RESULTS: Capsaicin induced moderate pain in the pain group, but there were no significant differences between the two groups in the change of kinematic variables from baseline except for a significantly greater increase from baseline in the number of chewing cycles per second (chewing rate) for free (t = 2.74, P = .011) and standardized chewing (t = 2.10, P = .047) in the pain group compared with the control group. In the pain group, the DASS anxiety score was negatively correlated (r = -.70, P = .007), with the change of mean opening velocity from the baseline to the test session in the free opening task, and the DASS depression score was negatively correlated to the increase of chewing rate in the free chewing task from the baseline to the test session (r = -.56, P = .046). CONCLUSION: Capsaicin-induced mucosal pain resulted in a significant increase in chewing rate but had no effect on amplitude or velocity in opening/closing jaw movements and chewing. Anxiety and depression scores correlated negatively with velocity in free opening jaw movement and chewing rate, respectively.
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Dolor Facial/fisiopatología , Mandíbula/fisiopatología , Actividad Motora/fisiología , Mucosa Bucal/efectos de los fármacos , Movimiento/fisiología , Acelerometría , Adaptación Fisiológica , Adulto , Ansiedad/fisiopatología , Capsaicina/farmacología , Estudios de Casos y Controles , Depresión/fisiopatología , Dolor Facial/inducido químicamente , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Masticación/fisiología , Modelos Neurológicos , Pruebas Psicológicas , Fármacos del Sistema Sensorial/farmacología , Encuestas y CuestionariosRESUMEN
Ovulation is a dramatic remodeling process that includes rupture of blood capillaries and clotting, but coagulation is not thought to directly regulate this process. Herein, we report remarkable increases of coagulation factors V (f5, ~3145-fold) and tissue factor (f3a, ~120-fold) in zebrafish ovarian follicle cells during ovulation. This increase was mediated through the nuclear progestin receptor (Pgr), which is essential for ovulation in zebrafish, and was totally abolished in ovarian follicular cells from pgr-/- mutants. In addition, promoter activities of f5 and f3a were significantly enhanced by progestin (DHP) via Pgr. Similar regulation of human F5 promoter activity was induced via human PGRB, suggesting a conserved mechanism. Site-directed mutagenesis of the zebrafish f5 promoter further demonstrated a direct regulation of coagulation factors via progestin response elements. Moreover, a stark increase of erythrocytes occurred in capillaries meshed in wild-type preovulatory follicles but was absent in pgr-/- mutants. Interestingly, anticoagulants significantly inhibited ovulation both in vitro and in vivo, respectively. Furthermore, reduced fecundity was observed in f5+/- female zebrafish. Taken together, our study provides plausible evidence for steroid regulation of coagulation factors, and a new hypothesis for blood clotting-triggered ovulation in vertebrates.
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Progestinas , Receptores de Progesterona , Animales , Coagulación Sanguínea , Femenino , Ovulación/fisiología , Progestinas/farmacología , Receptores de Progesterona/genética , Esteroides , Pez CebraRESUMEN
AIMS: To develop and validate a short screening tool for temporomandibular disorders (TMD) from the comprehensive Research Diagnostic Criteria for TMD (RDC/TMD) assessment. METHODS: Complete RDC/TMD assessments of four subject groups (96 TMD; 102 dental pain; 68 headache; 115 no-pain patients) were compared. Classification tree and multiple logistic regression analyses were utilized to develop the tool. To test external validity, a further 54 TMD and 51 non-TMD subjects whose diagnoses had been established by RDC/TMD assessment were reassessed with the new screening tool. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and likelihood ratios (LRs) were calculated for the screening tool in the validation set of subjects. RESULTS: A short TMD checklist was developed. This screening instrument had sensitivity of 94.4% (95% confidence intervals [CI], 84.9% to 98.1%), specificity of 94.1% (95% CI, 84.1% to 98%), PPV of 94.4% (95% CI, 84.9% to 98.1%), NPV of 94.1% (95% CI, 84.1% to 98%), and positive and negative LRs of 16.056 (95% CI, 5.346 to 48.219) and 0.059 (95% CI, 0.02 to 0.178) in an independent validation set. CONCLUSION: A short TMD screening checklist with high validity has been developed. This checklist may have good utility in general practice as a primary screening tool for TMD.
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Lista de Verificación , Tamizaje Masivo , Trastornos de la Articulación Temporomandibular/diagnóstico , Adulto , Femenino , Humanos , Funciones de Verosimilitud , Modelos Logísticos , Masculino , Persona de Mediana Edad , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
In this article, an adaptive fuzzy tracking control scheme is developed for a class of uncertain switched nonlinear systems with input saturations and full-state constraints. First to surmount the design difficulty with respect to a saturation nonlinearity controller, a nonlinear smooth function approximating the nondifferential saturation function is introduced to establish a standard switched adaptive tracking control strategy based on the mean-value theorem and the input compensation technique. Then, invoking fuzzy-logic systems (FLSs), a novel analysis method of average dwell time for switched nonlinear systems with full-state constraints is proposed by using an artful logarithmic inequality. Furthermore, the designed adaptive controller can ensure that all the states of uncertain switched nonlinear systems are not to violate the set constraint bounds by employing barrier Lyapunov functions (BLFs), and that the system output tracking error can converge to a desired neighborhood of the origin within a suitable compact set. Finally, the simulation results are given to demonstrate the validity of the presented approach.
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Redes Neurales de la Computación , Dinámicas no Lineales , Algoritmos , Simulación por Computador , Lógica DifusaRESUMEN
The problem of event-triggered prescribed performance control for a class of uncertain nonlinear systems with unknown control directions and faults is investigated. Compared with the existing methods, a new set of error transformation functions is defined for the first time. Although no approximate structure is adopted, prescribed performance control (PPC) and event triggered control (ETC) are realized simultaneously for the nonlinear system considered in this paper for the first time. The proposed control scheme can guarantee that all closed-loop signals are bounded, and the tracking error, as well as all state errors, converges within the adjustable constraint functions. Finally, two simulation experiments verify the effectiveness of the proposed algorithm.
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In this article, the adaptive fault-tolerant tracking control problem of nonaffine stochastic nonlinear systems with actuator failures and full-state constraints is studied. To surmount the design difficulty from nonaffine nonlinear term with multi-input and single-output (MISO) faulty modes, a novel nonlinear fault compensation function with adjustable parameter factor is first introduced to establish a standard adaptive fault-tolerant control (AFTC) strategy based on the mean-value theorem. Then, the remaining nonlinear function, including the partial loss of effectiveness, outage, and stuck cases, together with the constructed compound nonlinear function can be approximated by using the suitable fuzzy-logic system (FLS). Moreover, it is shown that all the states of nonaffine stochastic nonlinear systems are not violating the preset constraint bounds by employing the barrier Lyapunov functions (BLFs). Also, the given adaptive controller can guarantee all the closed-loop signals are uniformly ultimately bounded (UUB) in probability in the sense of fourth-moment within the appropriate compact sets. Finally, two simulation examples are given to demonstrate the validity of the proposed method.
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INTRODUCTION: The health and development of newborn children born via assisted reproductive technology (ART), as well as their health in adulthood, have raised great concern. This study was designed to investigate whether ART children have differences in the levels of trace elements compared with naturally conceived children. METHODS: This study included those ART children and controls aged 1 to 12â¯years assessed with a follow-up protocol. Serum levels of the trace elements zinc, copper, iron, calcium, magnesium and lead were determined and analyzed. RESULTS: There were no significant differences in age, gender or body weight between the ART and control groups. There were no significant differences in the rates of deficiency or excess of trace elements between the two groups. Serum lead levels in children born via ART were significantly higher than those in the controls, whereas the levels of zinc and iron were significantly decreased in the ART group, although these levels were still within the normal ranges. DISCUSSION: These results indicate the need to monitor the blood levels of zinc, iron and lead in ART children aged 1-6â¯years old. These findings contribute to our understanding on the long-term safety of ART and may facilitate screening for potential diseases related to trace elements.
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Técnicas Reproductivas Asistidas , Oligoelementos/sangre , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Lactante , Masculino , PartoRESUMEN
With the improvement of living standard, gestational diabetes mellitus (GDM) incidence is increasing every year. We observed the effects of abnormal 75âg oral glucose tolerance test (OGTT) at different time points on neonatal complications and neurobehavioral development in GDM.A total of 144 newborns whose mothers were diagnosed with GDM and received prenatal examination and childbirth in our hospital from October 2015 to April 2016, were observed in this study. Pregnant women underwent 75âg OGTT and the blood glucose level was recorded on an empty stomach, as well as postprandial 1 and 2âhours, respectively. Based on the frequency of 75âg OGTT-abnormal time points, the pregnant women were divided into group 1 (OGTT abnormality at 1 time point), group 2 (OGTT abnormality at 2 time points), and group 3 (OGTT abnormality at 3 time points). Neonatal behavioral neurological assessment (NBNA) was performed on the 3 groups, respectively.In the total score of NBNA, there was a significant difference among the 3 groups (Fâ=â17.120, Pâ=â.000), and there were significant differences between the 3 groups (all Pâ<â.05). The incidence of neonatal hypoglycemia was significantly lower in groups 1 and 2 than in group 3, and the incidence of macrosomia was significantly lower in groups 1 than in groups 2 and 3 (all Pâ<â.05). In the 144 newborns, NBNA scoring was significantly lower in the newborns with hypoglycemia than in the newborns with normal blood glucose level, and in macrosomia than in the newborns with normal body weight (all Pâ<â.01).With the increase of OGTT-abnormal time points in the pregnant women with GDM, the incidences of neonatal hypoglycemia and macrosomia rise and neonatal NBNA score decreases. Therefore, reasonable measures should be adopted as early as possible to prevent poor prognosis in the pregnant women with GDM.