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1.
Psychiatry Investig ; 21(4): 387-395, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38695046

RESUMEN

OBJECTIVE: To explore the efficacy and safety of clonidine adhesive patch in Tourette syndrome (TS) patients with comorbid attentiondeficit/hyperactivity disorder (ADHD). METHODS: This study was conducted on a sample of children and adolescents with TS who had comorbid ADHD between May 2012 and March 2015. The patients were diagnosed according to Diagnostic and Statistical Manual of Mental Disorders Fourth Edition, and were randomly assigned to four different dose groups: 1.0 mg/week, 1.5 mg/week, 2.0 mg/week and placebo group, and the symptom was evaluated by Swanson, Nolan, and Pelham Rating Scale, Version IV (SNAP-IV) and Yale Global Tic Severity Scale scales every 2 weeks. The primary outcome was tic disorders (TD) effective rate at week 8. RESULTS: One hundred and twenty-seven TS patients with comorbid ADHD in 2.0 mg/week (n=35), 1.5 mg/week (n=27), 1.0 mg/week (n=36) and placebo groups (n=29) were included in this subgroup analysis. The TD effective rate of the 2.0 mg, 1.5 mg, and 1.0 mg groups at week 8 were significantly better than that in placebo group (85.7%, 81.5%, and 86.1% vs. 20.7%, all p<0.0001). All groups demonstrated significant improvements in SNAP-IV total scale scores compared to baseline (p=0.0004), with treatment groups showing only a trend for better performance compared to placebo group at week 8, without statistical differences (22.1±15.41, 21.3±11.96, and 21.2±12.48 vs. 26.0±13.37, p=0.3385). A total of 9 adverse reactions occurred, all recovered spontaneously without additional medication. CONCLUSION: Clonidine adhesive patch could safely and effectively reduce the tic symptoms of TS patients with comorbid ADHD, and might be potentially helpful in the ADHD symptoms control.

2.
BMC Pediatr ; 24(1): 298, 2024 May 03.
Artículo en Inglés | MEDLINE | ID: mdl-38702673

RESUMEN

BACKGROUND: A large number of psychological consequences including sleep health emerged during the 2019 Coronavirus disease (COVID-19) pandemic. Sleep patterns in toddlers are vulnerable to negative environmental exposures, however, very few studies on this topic have been published so far. OBJECTIVES: In this paper, we aimed to investigate the sleep patterns and associated factors in toddlers from China confined at home in the context of COVID-19 pandemic. METHODS: From April to November 2021, a convenience sample of 493 parents of young children aged (12-35 months) were surveyed from Fuzhou, Sanming, Quanzhou, Nanping, and Longyan cities in the Fujian Province, China. A cross-sectional survey was conducted via Electronic questionnaires to collect parent and child social-demographic characteristics. The Brief Infant Sleep Questionnaire (BISQ) was used to collect data on sleep practices, sleep duration and patterns, as well as the number of nocturnal awaking . RESULTS: The mean age of toddlers was 2.11 years old, and 52.54% (259/493) were males. Among the 493 toddlers' sleep patterns, 331(67.1%) initiated sleep accompanied by parents, 67(13.6%) slept independently, 59 (12.0%) were breast fed/bottle fed to initiate sleep, 27 (5.5%) were held and 9 (1.8%) rocked. The clear longitudinal association between the duration of night-time sleep, the frequency of nighttime awakenings, and various sleep patterns remains clear (p < 0.05). Multiple linear regression analysis indicated that sleep initiation with bottle-feeding/breast-feeding and rocked significantly increased the frequency of nighttime awakenings and reduced the duration of nighttime sleep (p < 0.05), as held was dramatically only for increasing the number of nighttime awakenings (p < 0.05). Multi-variate logistic regression analysis demonstrated that toddlers with severe sleep difficulties had a higher probability of being rocked to initiate sleep (p < 0.05). Conversely, young children with minor sleep problems were more apt to be in bed alone to initiate sleep (p < 0.05). CONCLUSIONS: During the COVID-19 pandemic, most infants and toddlers initiated sleep accompanied by parents and tend to have electronic media exposure before bedtime. Increased waking at night may be associated with sleep initiation with breast-feeding/bottle-feeding. Therefore, pediatric practitioners in primary community hospitals should pay attention to the education and promotion of sleep hygiene and parenting knowledge of young children to avoid the formation of poor sleep hygiene habits.


Asunto(s)
COVID-19 , Calidad del Sueño , Humanos , Masculino , Femenino , China/epidemiología , Lactante , Estudios Transversales , Preescolar , COVID-19/epidemiología , Sueño , Encuestas y Cuestionarios , Padres , Lactancia Materna/estadística & datos numéricos
3.
Plant Cell Environ ; 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38747469

RESUMEN

Drought, as a primary environmental factor, imposes significant constraints on developmental processes and productivity of plants. PHDs were identified as stress-responsive genes in a wide range of eukaryotes. However, the regulatory mechanisms governing PHD genes in maize under abiotic stress conditions are still largely unknown and require further investigation. Here, we identified a mutant, zmvil2, in the EMS mutant library with a C to T mutation in the exon of the Zm00001d053875 (VIN3-like protein 2, ZmVIL2), resulting in premature termination of protein coding. ZmVIL2 belongs to PHD protein family. Compared to WT, zmvil2 mutant exhibited increased sensitivity to drought stress. Consistently, overexpression of ZmVIL2 enhances drought resistance in maize. Y2H, BiFC, and Co-IP experiments revealed that ZmVIL2 directly interacts with ZmFIP37 (FKBP12-interacting protein of 37). zmfip37 knockout mutants also exhibit decreased drought tolerance. Interestingly, we demonstrated that ZmABF4 directly binds to the ZmVIL2 promoter to enhance its activity in yeast one hybrid (Y1H), electrophoretic mobility shift assay (EMSA) and dual luciferase reporter assays. Therefore, we uncovered a novel model ZmABF4-ZmVIL2/ZmFIP37 that promotes drought tolerance in maize. Overall, these findings have enriched the knowledge of the functions of PHD genes in maize and provides genetic resources for breeding stress-tolerant maize varieties.

4.
PLoS One ; 19(4): e0300925, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38593131

RESUMEN

In this work, the electro-coalescence process of three nanodroplets under a constant DC electric field is investigated via molecular dynamics simulations (MD), aiming to explore the electric manipulation of multiple droplets coalescence on the molecular level. The symmetrical and asymmetrical dynamic evolutions of electrocoalescence process can be observed. Our MD simulations show that there are two types of critical electric fields to induce the special dynamics. The chain configuration can be formed, when one of the critical electric field is exceeded, referred to as Ecc. On the other hand, there is another critical electric field to change the coalescence pattern from complete coalescence to partial coalescence, the so-called Ecn. Finally, we find that the use of the pulsed DC electric field can overcome the drawbacks of the constant DC electric field in the crude oil industry, and the mechanisms behind the suppressed effect of the water chain or non-coalescence are further revealed.


Asunto(s)
Evolución Biológica , Electricidad , Simulación de Dinámica Molecular , Industria del Petróleo y Gas , Extremidad Superior
5.
J Ethnopharmacol ; 330: 118236, 2024 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-38670405

RESUMEN

ETHNOPHARMACOLOGICAL RELEVANCE: Chang-Kang-Fang (CKF), originated from traditional Chinese medicine (TCM) formulas, has been utilized to treat diarrhea predominant irritable bowel syndrome (IBS-D) based on clinical experience. However, the underlying mechanism of CKF for treating IBS-D remains unclear and need further clarification. AIM OF THE STUDY: The objective of this present investigation was to validate the efficacy of CKF on IBS-D model rats and to uncover its potential mechanism for the treatment of IBS-D. MATERIALS AND METHODS: We first established the IBS-D rat model through neonatal maternal separation (NMS) in combination with restraint stress (RS) and the administration of senna decoction via gavage. To confirm the therapeutic effect of CKF on treating IBS-D, abdominal withdrawal reflex (AWR) scores, the quantity of fecal pellets, and the fecal water content (FWC) were measured to evaluate the influence of CKF on visceral hypersensitivity and the severity of diarrhea symptom after the intragastric administration of CKF for 14 days. Subsequently, enzyme linked immunosorbent assay (ELISA) was applied to assess the effect of CKF on neuropeptides substance P (SP) and 5-hydroxytryptamine (5-HT), as well as inflammatory cytokines in serum and in intestinal tissues. Further, colonic pathological changes, the amount of colonic mast cells, and the expression level of occludin in rat colon tissues, were investigated by hematoxylin-eosin (HE) staining, toluidine blue staining, and immunohistochemistry, respectively. To explore the underlying mechanisms, alterations in colonic RNA transcriptomics for the normal, model, and CKF treatment groups were assessed using RNA sequencing (RNA-Seq). Subsequently, quantitative real-time polymerase chain reaction (qRT-PCR), Western blot (WB), and immunofluorescence (IF) assays were applied to validate the effect of CKF on predicted pathways in vivo and in vitro. In addition, to elucidate the potential active compounds in CKF, 11 representative components found in CKF were selected, and their anti-inflammation potentials were evaluated using LPS-treated RAW264.7 cell models. RESULTS: CKF treatment significantly reduced the number of fecal pellets, attenuated visceral hypersensitivity, and decreased 5-HT and SP concentrations in serum and colon tissues, along with a reduction in colonic mast cell counts, correlating with improved symptoms in IBS-D rats. Meanwhile, CKF treatment reduced the colonic inflammatory cell infiltration, lowered the levels of IL-6, TNF-α, and IL-1ß in serum and colon tissues, and increased the occludin protein expression in colon tissues to improve inflammatory response and colonic barrier function. RNA-Seq, in conjugation with our previous network pharmacology analysis, indicated that CKF might mitigate the symptoms of IBS-D rats by inhibiting the Toll like receptor 4/Nuclear factor kappa-B/NLR family pyrin domain-containing protein 3 (TLR4/NF-κB/NLRP3) pathway, which was confirmed by WB, IF, and qRT-PCR experiments in vivo and in vitro. Furthermore, coptisine, berberine, hyperoside, epicatechin, and gallic acid present in CKF emerged as potential active components for treating IBS-D, as they demonstrated in vitro anti-inflammatory effects. CONCLUSION: Our findings demonstrate that CKF effectively improves the symptoms of IBS-D rats, potentially through the inhibition of the TLR4/NF-κB/NLRP3 pathway. Moreover, this study unveils the potential bioactive components in CKF that could be applied in the treatment of IBS-D.


Asunto(s)
Diarrea , Medicamentos Herbarios Chinos , Síndrome del Colon Irritable , FN-kappa B , Proteína con Dominio Pirina 3 de la Familia NLR , Receptor Toll-Like 4 , Animales , Femenino , Masculino , Ratas , Colon/efectos de los fármacos , Colon/metabolismo , Colon/patología , Diarrea/tratamiento farmacológico , Modelos Animales de Enfermedad , Medicamentos Herbarios Chinos/farmacología , Síndrome del Colon Irritable/tratamiento farmacológico , FN-kappa B/metabolismo , Proteína con Dominio Pirina 3 de la Familia NLR/metabolismo , Ratas Sprague-Dawley , Transducción de Señal/efectos de los fármacos , Receptor Toll-Like 4/metabolismo
6.
Plant Biotechnol J ; 2024 Mar 21.
Artículo en Inglés | MEDLINE | ID: mdl-38511622

RESUMEN

Soybean is a typical short-day crop, and most commercial soybean cultivars are restricted to a relatively narrow range of latitudes due to photoperiod sensitivity. Photoperiod sensitivity hinders the utilization of soybean germplasms across geographical regions. When grown in temperate regions, tropical soybean responds to prolonged day length by increasing the vegetative growth phase and delaying flowering and maturity, which often pushes the harvest window past the first frost date. In this study, we used CRISPR/LbCas12a to edit a North American subtropical soybean cultivar named 06KG218440 that belongs to maturity group 5.5. By designing one gRNA to edit the nuclear localization signal (NLS) regions of both E1 and E1Lb, we created a series of new germplasms with shortened flowering time and time to maturity and determined their favourable latitudinal zone for cultivation. The novel partial function alleles successfully achieve yield and early maturity trade-offs and exhibit good agronomic traits and high yields in temperate regions. This work offers a straightforward editing strategy to modify subtropical and tropical soybean cultivars for temperate growing regions, a strategy that could be used to enrich genetic diversity in temperate breeding programmes and facilitate the introduction of important crop traits such as disease tolerance or high yield.

7.
Heliyon ; 10(4): e25745, 2024 Feb 29.
Artículo en Inglés | MEDLINE | ID: mdl-38380024

RESUMEN

A 54-year-old female with diabetes was admitted with fever and altered consciousness. Laboratory tests revealed venous blood glucose level of 43.79 mmol/L. Computed tomography (CT) scans of the head, chest, and abdomen showed a right-sided pneumothorax, consolidation, and atelectasis in the right lung; a large heterogeneous density lesion with fluid and gas-fluid levels in the liver; and scattered gas shadows in both kidneys, respectively. Blood and puncture fluid cultures indicated infection with Klebsiella pneumoniae. Based on the susceptibility profiles of the isolates, imipenem was administered intravenously to treat the infection. On the third day of hospitalization, the patient's condition worsened, with head CT showing an extensive cerebral infarction and multiple gas accumulations in the right cerebral hemisphere, as well as a large-area cerebral infarction in the left parietal and occipital lobes. Ultimately, the patient died of multiple organ dysfunction on the fourth day after initial presentation. Although the Klebsiella pneumoniae isolates from the patient showed sensitivity to imipenem, this antibiotic shows poor entry into the central nervous system. The death of the patient indicates that the selection of antibiotics that can cross the blood-brain barrier may be crucial in the outcome of this type of case. Therefore, antibiotics that can penetrate the blood-brain barrier should be selected as soon as possible, and empirical treatment must be initiated immediately after clinical suspicion of invasive Klebsiella pneumoniae, even if the diagnosis has not been determined.

8.
Cell Rep ; 43(2): 113723, 2024 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-38300801

RESUMEN

Stop codon readthrough (SCR) has important biological implications but remains largely uncharacterized. Here, we identify 1,009 SCR events in plants using a proteogenomic strategy. Plant SCR candidates tend to have shorter transcript lengths and fewer exons and splice variants than non-SCR transcripts. Mass spectrometry evidence shows that stop codons involved in SCR events can be recoded as 20 standard amino acids, some of which are also supported by suppressor tRNA analysis. We also observe multiple functional signals in 34 maize extended proteins and characterize the structural and subcellular localization changes in the extended protein of basic transcription factor 3. Furthermore, the SCR events exhibit non-conserved signature, and the extensions likely undergo protein-coding selection. Overall, our study not only characterizes that SCR events are commonly present in plants but also identifies the recoding plasticity of stop codons, which provides important insights into the flexibility of genetic decoding.


Asunto(s)
Biosíntesis de Proteínas , Proteínas , Codón de Terminación/genética , Proteínas/genética , Aminoácidos/genética , ARN de Transferencia/genética
9.
Environ Monit Assess ; 196(3): 310, 2024 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-38407801

RESUMEN

To reveal differences in arsenic (As) accumulation among indica rice cultivars and assess the human health risks arising from inorganic arsenic (iAs) intake via rice consumption, a total of 320 field indica rice samples and corresponding soil samples were collected from Fujian Province in China. The results showed that available soil As (0.03 to 3.83 mg/kg) showed a statistically significant positive correlation with total soil As (0.10 to 19.45 mg/kg). The inorganic As content in brown rice was between 0.001 and 0.316 mg/kg. Among the cultivars, ten brown rice samples (3.13%) exceeded the maximum contaminant level (MCL) of iAs in food of 0.2 mg/kg in China. The estimated daily intake (EDI) and calculated individual incremental lifetime cancer risk (ILCR) ranged from 0.337 µg/day to 106.60 µg/day and from 8.18 × 10-6 to 2.59 × 10-3, respectively. Surprisingly, the average EDI and the EDIs of 258 (80.63%) brown rice samples were higher than the maximum daily intake (MDI) of 10 µg/day in drinking water as set by the National Research Council. The mean ILCR associated with iAs was 54.3 per 100,000, which exceeds the acceptable upper limit (AUL) of 10 per 100,000 set by the USEPA. Notably, the cultivars Y-Liang-You 1 and Shi-Ji 137 exhibited significantly higher mean ILCRs compared to the AUL and other cultivars, indicating that they pose more serious cancer risks to the local population. Finally, this study demonstrated that the cultivars Yi-Xiang 2292 and Quan-Zhen 10 were the optimal cultivars to mitigate risks associated with iAs to human health from rice consumption.


Asunto(s)
Arsénico , Neoplasias , Oryza , Humanos , Oryza/genética , Monitoreo del Ambiente , Medición de Riesgo , Genotipo , Suelo
10.
Clin Biochem ; 125: 110735, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38401771

RESUMEN

BACKGROUND: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), also known as Glutaric Aciduria Type II, is an exceptionally rare autosomal recessive genetic disorder that disrupts the metabolism of fatty acids, amino acids, and choline. It presents with a wide range of clinical manifestations, from severe neonatal-onset forms to milder late-onset cases, with symptoms including metabolic disturbances and muscle weakness. Jordan's anomaly is a distinctive morphological feature found in peripheral blood white cells and is typically associated with Neutral Lipid Storage Disease (NLSD). CASE REPORT: In our case report, the patient initially presented with symptoms of vomiting, abdominal pain, and altered consciousness. The presence of white cell Jordan's anomaly was detected in the blood smear. Subsequent serum tests revealed elevated levels of transaminases, creatine kinase, uric acid, and multiple acylcarnitines, while blood glucose and free carnitine levels were notably reduced. High-throughput sequencing confirmed heterozygous pathogenic variants in the electron-transferring flavoprotein dehydrogenase (ETFDH) gene, leading to the conclusive diagnosis of MADD. Following a three-month treatment regimen involving high-dose vitamin B2, coenzyme Q10, and other supportive interventions, the patient exhibited significant clinical improvement, ultimately resulting in discharge. CONCLUSION: The identification of Jordan's anomaly in a pediatric patient with late-onset MADD sheds light on its broader implications within the realm of lipid storage myopathies. The significance of this finding extends beyond its conventional association with NLSD, challenging the notion of its exclusivity. This novel observation serves as a compelling reminder of the diagnostic significance this morphological abnormality holds, potentially revolutionizing diagnostic practices within the field.


Asunto(s)
Eritrodermia Ictiosiforme Congénita , Errores Innatos del Metabolismo Lipídico , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa , Enfermedades Musculares , Recién Nacido , Humanos , Niño , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/diagnóstico , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/genética , Deficiencia Múltiple de Acil Coenzima A Deshidrogenasa/tratamiento farmacológico , Jordania , Aminoácidos , Lípidos , Mutación , Acil-CoA Deshidrogenasa/genética
11.
Plant Cell Environ ; 47(3): 885-899, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38164019

RESUMEN

Drought is a major abiotic stress that limits maize production worldwide. Therefore, it is of great importance to improve drought tolerance in crop plants for sustainable agriculture. In this study, we examined the roles of Cys2 /His2 zinc-finger-proteins (C2H2-ZFPs) in maize's drought tolerance as C2H2-ZFPs have been implicated for plant stress tolerance. By subjecting 150 Ac/Ds mutant lines to drought stress, we successfully identified a Ds-insertion mutant, zmc2h2-149, which shows increased tolerance to drought stress. Overexpression of ZmC2H2-149 in maize led to a decrease in both drought tolerance and crop yield. DAP-Seq, RNA-Seq, Y1H and LUC assays additionally showed that ZmC2H2-149 directly suppresses the expression of a positive drought tolerance regulator, ZmHSD1 (hydroxysteroid dehydrogenase 1). Consistently, the zmhsd1 mutants exhibited decreased drought tolerance and grain yield under water deficit conditions compared to their respective wild-type plants. Our findings thus demonstrated that ZmC2H2-149 can regulate ZmHSD1 for drought stress tolerance in maize, offering valuable theoretical and genetic resources for maize breeding programmes that aim for improving drought tolerance.


Asunto(s)
Resistencia a la Sequía , Zea mays , Zea mays/fisiología , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Sequías , Estrés Fisiológico/genética , Regulación de la Expresión Génica de las Plantas
12.
Medicine (Baltimore) ; 103(1): e36205, 2024 Jan 05.
Artículo en Inglés | MEDLINE | ID: mdl-38181242

RESUMEN

RATIONALE: Green inclusions (GI) are distinct morphological features found in phagocytic cells like neutrophils and monocytes. These intracellular structures exhibit bright green color with unclear boundaries, and their origin and clinical significance are still not fully understood. GI carriers, often middle-aged to elderly with liver dysfunction, face higher mortality rates, earning them the nickname "inclusions of death." This report presents a rare GI-related pediatric case, demonstrating a favorable response to blood purification therapy. PATIENT CONCERNS: A 10-year-old girl was admitted with recurrent fever, abdominal pain, and neurological symptoms, culminating in a transient cardiac arrest. Blood tests revealed multi-organ injury and a high risk of disseminated intravascular coagulation, while peripheral blood smear detected GI within neutrophil cytoplasm. DIAGNOSIS: The patient was diagnosed with acute necrotizing encephalopathy, severe sepsis, and multiple organ failure. INTERVENTIONS AND OUTCOMES: After receiving multiple sessions of blood purification therapy, peripheral blood GI levels markedly decreased, accompanied by improvements in various laboratory parameters and signs of neurological recovery. Unfortunately, due to financial constraints, the family opted to transfer the patient back to their local hospital, where she succumbed shortly after discharge. LESSONS: This case underscores the complexities in managing GI-related pediatric cases. Moreover, it emphasizes the potential benefits of blood purification therapy in such scenarios. Notably, this study highlights a potential correlation between the level of GI in peripheral blood and disease severity, particularly in pediatric cases. While these findings hold clinical significance for the treatment and management of GI-related patients, further research focusing on middle-aged and elderly individuals is imperative to elucidate the fundamental relationship between peripheral blood GI quantity and clinical presentation and to evaluate the efficacy of blood purification in GI-related cases.


Asunto(s)
Líquidos Corporales , Traumatismo Múltiple , Anciano , Femenino , Persona de Mediana Edad , Humanos , Niño , Cuerpos de Inclusión , Monocitos , Neutrófilos , Dolor Abdominal
13.
Sci Rep ; 14(1): 1852, 2024 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-38253593

RESUMEN

[Formula: see text] state estimation is addressed for continuous-time neural networks in the paper. The norm-bounded uncertainties are considered in communication neural networks. For the considered neural networks with uncertainties, a reduced-order [Formula: see text] state estimator is designed, which makes that the error dynamics is exponentially stable and has weighted [Formula: see text] performance index by Lyapunov function method. Moreover, it is also given the devised method of the reduced-order [Formula: see text] state estimator. Then, considering that sampling the output y(t) of the neural network at every moment will result in waste of excess resources, the event-triggered sampling strategy is used to solve the oversampling problem. In addition, a devised method is also given for the event-triggered reduced-order [Formula: see text] state estimator. Finally, by the well-known Tunnel Diode Circuit example, it shows that a lower order state estimator can be designed under the premise of maintaining the same weighted [Formula: see text] performance index, and using the event-triggered sampling method can reduce the computational and time costs and save communication resources.

14.
Seizure ; 116: 65-73, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37394306

RESUMEN

PURPOSE: The SCAF4 gene encodes serine/arginine-related carboxyl-terminal domain-associated factor 4, which is highly expressed in the brain and potentially affects neurodevelopment. However, the functional significance of SCAF4 variants in human diseases remains unknown. METHODS: Trio-based whole-exome sequencing was performed in three individuals with focal epilepsy. Bioinformatics tools were used to assess the pathogenicity of SCAF4 variants. Knockout scaf4a/b zebrafish were created using CRISPR-Cas9 used to validate the phenotype. RESULTS: SCAF4 variants were identified in three individuals from three unrelated families with focal epilepsy. All patients had focal seizures and focal discharges on EEG recordings, with intellectual disability or motor retardation, skeletal abnormalities, and one had cryptorchidism. However, no recurrence was observed after short-term ASMs treatment. The identified SCAF4 variants included two nonsense variants and one compound heterozygous variant, consisting of a missense and an in-frame variant. A low frequency of SCAF4 variants was observed in gnomAD in this study. Computational modelling has suggested that missense variants lead to functional impairments. In zebrafish, abnormal epileptiform signals, skeletal development, and neurodevelopment have been found in scaf4a/b knockout compared to wild-type zebrafish. CONCLUSION: These results indicate that SCAF4 is associated with focal epilepsy accompanied by multisystem disorders. Otherwise, the management of patients with SCAF4 variants requires more attention to multisystem involvement.


Asunto(s)
Epilepsias Parciales , Discapacidad Intelectual , Masculino , Animales , Humanos , Pez Cebra , Epilepsias Parciales/complicaciones , Epilepsias Parciales/genética , Convulsiones/complicaciones , Encéfalo , Discapacidad Intelectual/genética , Factores de Empalme Serina-Arginina/genética
15.
Plant Biotechnol J ; 22(4): 929-945, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38009862

RESUMEN

The control of flowering time in maize is crucial for reproductive success and yield, and it can be influenced by environmental stresses. Using the approaches of Ac/Ds transposon and transposable element amplicon sequencing techniques, we identified a Ds insertion mutant in the ZmPRR37 gene. The Ds insertion showed a significant correlation with days to anthesis. Further research indicated that ZmPRR37-CR knockout mutants exhibited early flowering, whereas ZmPRR37-overexpression lines displayed delayed flowering compared to WT under long-day (LD) conditions. We demonstrated that ZmPRR37 repressed the expression of ZmNF-YC2 and ZmNF-YA3 to delay flowering. Association analysis revealed a significant correlation between flowering time and a SNP2071-C/T located upstream of ZmPRR37. The SNP2071-C/T impacted the binding capacity of ZmELF6 to the promoter of ZmPRR37. ZmELF6 also acted as a flowering suppressor in maize under LD conditions. Notably, our study unveiled that ZmPRR37 can enhance salt stress tolerance in maize by directly regulating the expression of ABA-responsive gene ZmDhn1. ZmDhn1 negatively regulated maize salt stress resistance. In summary, our findings proposed a novel pathway for regulating photoperiodic flowering and responding to salt stress based on ZmPRR37 in maize, providing novel insights into the integration of abiotic stress signals into floral pathways.


Asunto(s)
Flores , Proteínas de Plantas , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Flores/fisiología , Zea mays/genética , Zea mays/metabolismo , Fotoperiodo , Regiones Promotoras Genéticas , Regulación de la Expresión Génica de las Plantas/genética
16.
J Clin Lab Anal ; 37(23-24): e24991, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-38087905

RESUMEN

BACKGROUND: Overhydrated hereditary stomatocytosis (OHSt) is a rare disorder characterized by abnormalities in erythrocytic volume homeostasis. Early and accurate diagnosis is essential for appropriate management and genetic counseling. METHODS: We present the case of a child with beta-thalassemia and a history of multiple blood transfusions. Clinical presentation, laboratory findings, and genetic testing were reviewed. Peripheral blood smear examination and genetic analysis were performed. RESULTS: The patient was admitted with severe anemia, and peripheral blood smear examination revealed the presence of up to 50% stomatocytes. Laboratory investigations showed abnormalities in red blood cell parameters, including decreased hemoglobin levels and increased mean corpuscular volume. Genetic testing identified a heterozygous mutation in the RHAG gene, confirming the diagnosis of OHSt. The presence of stomatocytes in the peripheral blood smear was transient, correlating with episodes of hemolysis and its control.


Asunto(s)
Anemia Hemolítica Congénita , Talasemia beta , Niño , Humanos , Talasemia beta/complicaciones , Talasemia beta/diagnóstico , Talasemia beta/genética , Anemia Hemolítica Congénita/diagnóstico , Anemia Hemolítica Congénita/genética , Eritrocitos , Eritrocitos Anormales
18.
Vasa ; 52(6): 355-365, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37779391

RESUMEN

Insufficiency of the small saphenous vein causes 15% of varicose veins in the lower extremities. Endovenous ablation for the treatment of small saphenous vein varices has become a trend, and an increasing number of studies have reported the effects of different types of endovenous ablation in patients with small saphenous varicose veins. The purpose of this systematic review is to summarize the results of existing studies on endovenous ablation for the treatment of small saphenous varicose veins, compare its role and efficacy, and provide insights into the future development of endovenous ablation for treating small saphenous varicose veins. A systematic review of literature published from January 1, 2002 to January 1, 2022 was conducted from PubMed, Embase, and China Academic Journals full-text databases. The pre-determined inclusion criteria were clinical literature of endovenous ablation for treating small saphenous varicose veins. Keywords included "ablation", "small saphenous vein", "lesser saphenous vein", "short saphenous vein", "xiaoyinjingmai" and "xiaorong". Of the 506 articles screened, 33 articles were included in this review: 19 articles were related to endovenous laser ablation, five were related to mechanochemical ablation, seven were related to radiofrequency ablation, and two were related to both endovenous laser ablation and radiofrequency ablation. The anatomical success rate of endovenous laser ablation, radiofrequency ablation, and mechanochemical ablation were 94.3%, 96.0%, and 88.1%, respectively, and the heterogeneities were all moderate. Most of the current studies are of a low-quality level of research. Hence, long-term follow-up studies and large-scale randomized controlled trials are required to obtain high-quality evidence. Although the gold standard for the treatment of small saphenous vein insufficiency remains unclear, endovenous ablation is still the recommended method.


Asunto(s)
Terapia por Láser , Várices , Insuficiencia Venosa , Humanos , Vena Safena/diagnóstico por imagen , Vena Safena/cirugía , Várices/diagnóstico por imagen , Várices/cirugía , Escleroterapia/efectos adversos , Escleroterapia/métodos , Terapia por Láser/efectos adversos , Terapia por Láser/métodos , China , Resultado del Tratamiento , Insuficiencia Venosa/diagnóstico por imagen , Insuficiencia Venosa/cirugía
19.
Int J Ophthalmol ; 16(10): 1601-1607, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37854370

RESUMEN

AIM: To access the agreement of intraocular pressure (IOP) values obtained from biomechanically corrected tonometer [Corvis ST (CST)], non-contact tonometer (NCT), and Goldmann applanation tonometer (GAT) in children with NCT measured-IOP (NCT-IOP) values of 22 mm Hg or more, and related factors. METHODS: A total of 51 eyes with NCT-IOP≥22 mm Hg in children aged 7 to 14y were examined and IOP was measured by CST, NCT, and GAT. Based on GAT measured IOP (GAT-IOP), ocular hypertension (OHT) group (≥22 mm Hg, 24 eyes) and the non-OHT group (<22 mm Hg, 27 eyes) were defined. We compared the agreement of the three measurements, i.e., CST measured IOP (CST-IOP), GAT-IOP, and NCT-IOP, and further analyzed the correlation between the differences in tonometry readings, central corneal thickness (CCT), axial length (AL), optic disc rim volume, and age. RESULTS: Compared with the OHT group, thicker CCT, larger rim volume, and higher differences between NCT-IOP and GAT-IOP, were found in the non-OHT group. The differences between CST-IOP and GAT-IOP were lower than the differences between NCT-IOP and GAT-IOP in both groups. The mean differences in CST-IOP and GAT-IOP were 1.26 mm Hg (95% limit of agreement ranged from 0.1 to 2.41 mm Hg, OHT group) and 1.20 mm Hg (95% limit of agreement ranged from -0.5 to 3.00 mm Hg, non-OHT group), and the mean differences in NCT and GAT were 3.90 mm Hg (95% limit of agreement ranged from -0.19 to 9.70 mm Hg, OHT group) and 6.00 mm Hg (95% limit of agreement ranged from 1.50 to 10.50 mm Hg, non-OHT group). The differences between CST-IOP and GAT-IOP were not related to CCT, age, and AL in both groups; while the differences between NCT-IOP and GAT-IOP were related to CCT in the OHT group (r=0.93, P<0.001) and to CCT and AL in the non-OHT group (r=0.66, P<0.001, r=-0.81, P<0.001). CONCLUSION: The accuracy of NCT in the diagnosis of pediatric OHT is low. The agreement of CST-IOP and GAT-IOP was significantly higher in children with and without OHT than in those with NCT-IOP and GAT-IOP. Therefore, CST can be used as a good alternative for IOP measurement in children. The impacts of CCT and AL on NCT measurement need to be fully considered when managing childhood IOP.

20.
Heliyon ; 9(9): e19196, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37809447

RESUMEN

This work investigated and compared the impact on performance and emission characteristics of diesel engine fueled with five different proportions of biodiesel blends. Firstly, the three-dimensional simulation software CONVERGE was used to create a 3D simulation model of in-cylinder combustion for a diesel engine. Secondly, the experimental data of cylinder pressure and NOx emissions at 50% and 100% loads were employed to verify the simulation model. Finally, the combustion processes of blends with proportions of 0%, 5%, 10%, 15%, and 20% biodiesel were simulated and compared by using the model. The study showed that the brake thermal efficiencies (BTEs) of biodiesel blends with 5%, 10%, 15%, and 20% of biodiesel were increased by 1.24%, 1.89%, 3.13%, and 3.82% at 50% load, respectively, compared with pure diesel. In addition, the soot emissions were decreased by 1.20%, 2.64%, 3.88%, and 4.65%, respectively. However, as the proportion of biodiesel in the biodiesel blends increased, the brake specific fuel consumption (BSFC) and NOx emissions increased. At 50% load, the BSFCs of biodiesel blends with 5%, 10%, 15%, and 20% of biodiesel increased by 0.61%, 1.34%, 1.42%, and 2.17%, respectively, compared with pure diesel. Additionally, the brake powers (BPs) were decreased by 0.64%, 1.31%, 1.88%, and 2.62% at 100% load, respectively.

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