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1.
J Sleep Res ; : e14372, 2024 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-39344134

RESUMO

The active system consolidation theory assumes that sleep between encoding and retrieval promotes memory consolidation. In the present study, we cued new memories during slow-wave (SWS) or rapid eye movements (REM) sleep stages by presenting an instrumental music stimuli that had been previously presented during a learning session. In a within-subjects design, 18 participants slept for three nonconsecutive nights (cue during SWS, cue during REM, and no cue during control night) and were trained in a visuo-spatial memory task. The administration of cue during SWS produced better memory accuracy in comparison with REM and the control condition.

2.
Int J Mol Sci ; 25(14)2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-39062755

RESUMO

Opsins are a class of transmembrane proteins encoded by opsin genes, and they play a variety of functional roles. Short wavelength-sensitive opsin 2 (sws2), one of the five classes of visual opsin genes, mainly senses blue light. Previous research has indicated that sws2 is essential for melanocyte formation in fish; however, its specific role in skin color differentiation remains to be elucidated. Here, we identified the sws2 gene in a prized reef-dwelling fish, Plectropomus leopardus. The full-length P. leopardus sws2 gene encodes a protein consisting of 351 amino acids, and exhibits substantial homology with other fish species. The expression of the sws2 gene was widespread across P. leopardus tissues, with high expression in eye and skin tissues. Through immunohistochemistry and in situ hybridization analyses, we discovered that the sws2 gene was primarily localized in the rod and cone cells of the retina, and epidermal cells of the skin. Furthermore, dsRNA interference was used for sws2 gene knockdown in living P. leopardus to elucidate its function in skin color differentiation. Black-color-related genes, melanin contents, and tyrosinase activity in the skin significantly decreased after sws2 knockdown (p < 0.05), but red-color-related genes and carotenoid and lutein contents significantly increased (p < 0.05). Retinoic acid injection produced the opposite results. Our results suggested that the sws2 gene influences P. leopardus skin color regulation by affecting vitamin synthesis and melanin-related gene expression levels. This study establishes a foundation for elucidating the molecular mechanisms by which sws2 regulates melanocyte formation in fish skin.


Assuntos
Melaninas , Pele , Tretinoína , Animais , Melaninas/biossíntese , Melaninas/metabolismo , Tretinoína/metabolismo , Pele/metabolismo , Proteínas de Peixes/genética , Proteínas de Peixes/metabolismo , Pigmentação da Pele/genética , Opsinas/metabolismo , Opsinas/genética , Regulação da Expressão Gênica
3.
Genome Biol Evol ; 16(8)2024 Aug 05.
Artigo em Inglês | MEDLINE | ID: mdl-38985750

RESUMO

The photopigment-encoding visual opsin genes that mediate color perception show great variation in copy number and adaptive function across vertebrates. An open question is how this variation has been shaped by the interaction of lineage-specific structural genomic architecture and ecological selection pressures. We contribute to this issue by investigating the expansion dynamics and expression of the duplicated Short-Wavelength-Sensitive-1 opsin (SWS1) in sea snakes (Elapidae). We generated one new genome, 45 resequencing datasets, 10 retinal transcriptomes, and 81 SWS1 exon sequences for sea snakes, and analyzed these alongside 16 existing genomes for sea snakes and their terrestrial relatives. Our analyses revealed multiple independent transitions in SWS1 copy number in the marine Hydrophis clade, with at least three lineages having multiple intact SWS1 genes: the previously studied Hydrophis cyanocinctus and at least two close relatives of this species; Hydrophis atriceps and Hydrophis fasciatus; and an individual Hydrophis curtus. In each lineage, gene copy divergence at a key spectral tuning site resulted in distinct UV and Violet/Blue-sensitive SWS1 subtypes. Both spectral variants were simultaneously expressed in the retinae of H. cyanocinctus and H. atriceps, providing the first evidence that these SWS1 expansions confer novel phenotypes. Finally, chromosome annotation for nine species revealed shared structural features in proximity to SWS1 regardless of copy number. If these features are associated with SWS1 duplication, expanded opsin complements could be more common in snakes than is currently recognized. Alternatively, selection pressures specific to aquatic environments could favor improved chromatic distinction in just some lineages.


Assuntos
Evolução Molecular , Filogenia , Opsinas de Bastonetes , Animais , Opsinas de Bastonetes/genética , Retina/metabolismo , Hydrophiidae/genética , Hydrophiidae/metabolismo , Duplicação Gênica
4.
Sensors (Basel) ; 24(12)2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38931492

RESUMO

A staggered vane-shaped slot-line slow-wave structure (SV-SL SWS) for application in W-band traveling wave tubes (TWTs) is proposed in this article. In contrast to the conventional slot-line SWSs with dielectric substrates, the proposed SWS consists only of a thin metal sheet inscribed with periodic grooves and two half-metal enclosures, which means it can be easily manufactured and assembled and has the potential for mass production. This SWS not only solves the problem of the dielectric loading effect but also improves the heat dissipation capability of such structures. Meanwhile, the SWS design presented here covers a -15 dB S11 frequency range from 87.5 to 95 GHz. The 3-D simulation for a TWT based on the suggested SWS is also investigated. Under dual-electron injection conditions with a total voltage of 17.2 kV and a total current of 0.3 A, the maximum output power at 90 GHz is 200 W, with a 3 dB bandwidth up to 4 GHz. With a good potential for fabrication using microfabrication techniques, this structure can be a good candidate for millimeter-wave TWT applications.

5.
Ecotoxicol Environ Saf ; 281: 116597, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38880005

RESUMO

The pervasive occurrence of emerging contaminants (ECs) in sewage sludge (SWS) poses significant safety challenges concerning the processing, disposal, and secure application, ultimately jeopardizing both human health and the ecological environment. To comprehensively comprehend the evolutionary trajectories, present state, and research advancements in the field of ECs in SWS, a systematic was conducted, scrutinizing the annual publication quantity, disciplinary distribution, core authors, involved nations/regions, pertinent keywords, and citation status of 2082 research publications related to ECs in SWS from 1990 to 2023. The results indicate a substantial upward trajectory in the research literature pertaining to ECs in SWS. The study of ECs in SWS encompasses 78 disciplines, including Environmental Sciences, Environmental Engineering, and Water Resources. China, Spain, and the USA ranked among the top three countries in terms of both total publications and citation frequency. The majority of publications were published in reputable high-impact journals such as Science of the Total Environment, Chemosphere, and Bioresource Technology. Based on high-frequency keywords, co-occurrence networks of keywords, and keywords burst analysis, it is found that the occurrence and environment behavior of ECs in SWS (ARGs, microplastics, PPCPs, and POPs), the detection and analytical methods, the impact on SWS treatment and disposal processes, and the accumulation and ecological risks in plants and soil during SWS land utilization, are the main research directions and hot topics in this field. In the future, the study of the impact of SWS treatment technologies on ECs removal is expected to receive increased research attention.


Assuntos
Bibliometria , Esgotos , Monitoramento Ambiental/métodos , Poluentes Químicos da Água/análise , Pesquisa , Eliminação de Resíduos Líquidos/métodos
6.
Elife ; 132024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38660940

RESUMO

Mutations in Drosophila Swiss cheese (SWS) gene or its vertebrate orthologue neuropathy target esterase (NTE) lead to progressive neuronal degeneration in flies and humans. Despite its enzymatic function as a phospholipase is well established, the molecular mechanism responsible for maintaining nervous system integrity remains unclear. In this study, we found that NTE/SWS is present in surface glia that forms the blood-brain barrier (BBB) and that NTE/SWS is important to maintain its structure and permeability. Importantly, BBB glia-specific expression of Drosophila NTE/SWS or human NTE in the sws mutant background fully rescues surface glial organization and partially restores BBB integrity, suggesting a conserved function of NTE/SWS. Interestingly, sws mutant glia showed abnormal organization of plasma membrane domains and tight junction rafts accompanied by the accumulation of lipid droplets, lysosomes, and multilamellar bodies. Since the observed cellular phenotypes closely resemble the characteristics described in a group of metabolic disorders known as lysosomal storage diseases (LSDs), our data established a novel connection between NTE/SWS and these conditions. We found that mutants with defective BBB exhibit elevated levels of fatty acids, which are precursors of eicosanoids and are involved in the inflammatory response. Also, as a consequence of a permeable BBB, several innate immunity factors are upregulated in an age-dependent manner, while BBB glia-specific expression of NTE/SWS normalizes inflammatory response. Treatment with anti-inflammatory agents prevents the abnormal architecture of the BBB, suggesting that inflammation contributes to the maintenance of a healthy brain barrier. Considering the link between a malfunctioning BBB and various neurodegenerative diseases, gaining a deeper understanding of the molecular mechanisms causing inflammation due to a defective BBB could help to promote the use of anti-inflammatory therapies for age-related neurodegeneration.


Assuntos
Barreira Hematoencefálica , Hidrolases de Éster Carboxílico , Ácidos Graxos , Inflamação , Neuroglia , Animais , Barreira Hematoencefálica/metabolismo , Ácidos Graxos/metabolismo , Inflamação/metabolismo , Neuroglia/metabolismo , Hidrolases de Éster Carboxílico/metabolismo , Hidrolases de Éster Carboxílico/genética , Doenças por Armazenamento dos Lisossomos/metabolismo , Doenças por Armazenamento dos Lisossomos/genética , Doenças por Armazenamento dos Lisossomos/patologia , Humanos , Proteínas de Drosophila/metabolismo , Proteínas de Drosophila/genética , Drosophila melanogaster/metabolismo , Drosophila melanogaster/genética
7.
Quant Imaging Med Surg ; 14(2): 1916-1929, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38415136

RESUMO

Background: Enlarged deep medullary veins (EDMVs) in patients with Sturge-Weber syndrome (SWS) may channel venous blood from the surface to the deep vein system in brain regions affected by the leptomeningeal venous malformation. Thus, the quantification of EDMV volume may provide an objective imaging marker for this vascular compensatory process. The present study proposes a novel analytical method to quantify enlarged EDMV volumes in the affected hemisphere of patients with unilateral SWS. Methods: Twenty young subjects, including 10 patients with unilateral SWS and 10 healthy siblings (age 14.5±6.7 and 16.0±7.0 years, respectively) underwent 3T brain MRI scanning using susceptibility-weighted imaging (SWI) and volumetric T1-weighted sequences. The proposed image analytic steps segmented EDMVs in white matter regions, defined on the volumetric T1-weighted images, by statistically associating the likelihood of intensity, location, and tubular shape on SWI. The volumes of the segmented EDMVs, calculated in each hemisphere, were compared between affected and unaffected hemispheres. EDMV volumes were also correlated with visually assessed EDMV scores, hemispheric white matter volumes, and cortical surface areas. Parametric tests including Pearson's correlation, unpaired and paired t-tests, were used. A P value <0.05 was considered statistically significant. Results: It was found that EDMVs were identified well in SWS-affected hemispheres while calcified regions were excluded. Mean EDMV volumes in the SWS-affected hemispheres were 10-12-fold greater than in the unaffected or healthy control hemispheres; while white matter volumes and cortical surface areas were lower. EDMV volumes in the SWS-affected hemispheres showed a strong positive correlation with the visual EDMV scores (r=0.88, P=0.001) and an inverse correlation with cortical surface area ratios (r=-0.65, P=0.04) but no correlation with white matter volume ratios. Conclusions: EDMVs were detected in the SWS-affected atrophic hemispheres reliably while avoiding calcified regions. The approach can be used to quantify enlarged deep cerebral veins in the human brain, which may provide a potential marker of cerebral venous remodeling.

8.
Sleep Med ; 115: 155-161, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38367357

RESUMO

BACKGROUND: Growing evidence supports the potential role of sleep in the motor progression of Parkinson's disease (PD). Slow-wave sleep (SWS) and rapid eye movement (REM) sleep without atonia (RWA) are important sleep parameters. The association between SWS and RWA with PD motor progression and their predictive value have not yet been elucidated. METHODS: We retro-prospectively analyzed clinical and polysomnographic data of 136 patients with PD. The motor symptoms were assessed using Unified Parkinson's Disease Rating Scale Part III (UPDRS III) at baseline and follow-up to determine its progression. Partial correlation analysis was used to explore the cross-sectional associations between slow-wave energy (SWE), RWA and clinical symptoms. Longitudinal analyses were performed using Cox regression and linear mixed-effects models. RESULTS: Among 136 PD participants, cross-sectional partial correlation analysis showed SWE decreased with the prolongation of the disease course (P = 0.046), RWA density was positively correlated with Hoehn & Yahr (H-Y) stage (tonic RWA, P < 0.001; phasic RWA, P = 0.002). Cox regression analysis confirmed that low SWE (HR = 1.739, 95% CI = 1.038-2.914; P = 0.036; FDR-P = 0.036) and high tonic RWA (HR = 0.575, 95% CI = 0.343-0.963; P = 0.032; FDR-P = 0.036) were predictors of motor symptom progression. Furthermore, we found that lower SWE predicted faster rate of axial motor progression (P < 0.001; FDR-P < 0.001) while higher tonic RWA density was associated with faster rate of rigidity progression (P = 0.006; FDR-P = 0.024) using linear mixed-effects models. CONCLUSIONS: These findings suggest that SWS and RWA might represent markers of different motor subtypes progression in PD.


Assuntos
Doença de Parkinson , Transtorno do Comportamento do Sono REM , Sono de Ondas Lentas , Humanos , Doença de Parkinson/complicações , Sono REM , Transtorno do Comportamento do Sono REM/diagnóstico , Transtorno do Comportamento do Sono REM/complicações , Estudos Transversais , Polissonografia , Hipotonia Muscular , Cafeína , Progressão da Doença
9.
Eur J Pediatr ; 183(4): 1881-1890, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38305888

RESUMO

Epilepsy in Sturge-Weber syndrome (SWS) is common, but drug-refractory epilepsy (DRE) in SWS has rarely been studied in children. We investigated the characteristics of epilepsy and risk factors for DRE in children with SWS. A retrospective study was conducted to analyze the clinical characteristics of children with SWS with epilepsy in our hospital from January 2013 to October 2022. Univariate and multivariate logistic analyses were performed to investigate the factors influencing DRE in children with SWS. A total of 35 SWS children with epilepsy were included (51% male; mean age of presentation 3.6 ± 0.5 years), 71% of children with SWS had their first seizure within the first year of life, and the most common type of seizure was focal seizure (77%). Eleven (31%) patients developed DRE. The median age of onset for the first seizure was 1.0 years and all these cases were of SWS type I. Multivariate logistic analysis revealed that stroke-like episodes and seizure clusters were risk factors for DRE in SWS children. A poor neurological function group was observed in twenty-five children with SWS. Status epilepticus was a risk factor that affected the neurological function of SWS children with epilepsy.  Conclusion: The study explored the epileptic features of children with SWS. The results revealed that stroke-like episodes and seizure clusters are risk factors for DRE in children with SWS. The occurrence of status epilepticus impacts the neurological function of SWS children with epilepsy. Thus, long-term follow-up is necessary to monitor outcomes. What is Known: • Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder, over 75% of children with SWS experience seizures, and 30-57% develop drug-refractory epilepsy (DRE), which leads to a poor outcome. • Drug-refractory epilepsy in SWS has been rarely studied in children, and the risk factors associated with DRE are unclear. What is New: • Clinical features of SWS children with drug-refractory epilepsy. • In SWS, stroke-like episodes and seizure clusters are risk factors of DRE, the occurrence of status epilepticus impacts the neurological function.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia , Estado Epiléptico , Acidente Vascular Cerebral , Síndrome de Sturge-Weber , Criança , Humanos , Masculino , Pré-Escolar , Lactente , Feminino , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/complicações , Estudos Retrospectivos , Síndrome de Sturge-Weber/complicações , Síndrome de Sturge-Weber/epidemiologia , Convulsões/etiologia , Epilepsia/etiologia , Epilepsia/complicações , Acidente Vascular Cerebral/complicações , Estado Epiléptico/complicações
10.
Zoological Lett ; 10(1): 2, 2024 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-38167154

RESUMO

Egg-laying mammals (monotremes) are considered "primitive" due to traits such as oviparity, cloaca, and incomplete homeothermy, all of which they share with reptiles. Two groups of monotremes, the terrestrial echidna (Tachyglossidae) and semiaquatic platypus (Ornithorhynchidae), have evolved highly divergent characters since their emergence in the Cenozoic era. These evolutionary differences, notably including distinct electrosensory and chemosensory systems, result from adaptations to species-specific habitat conditions. To date, very few studies have examined the visual adaptation of echidna and platypus. In the present study, we show that echidna and platypus have different light absorption spectra in their dichromatic visual sensory systems at the molecular level. We analyzed absorption spectra of monotreme color opsins, long-wavelength sensitive opsin (LWS) and short-wavelength sensitive opsin 2 (SWS2). The wavelength of maximum absorbance (λmax) in LWS was 570.2 in short-beaked echidna (Tachyglossus aculeatus) and 560.6 nm in platypus (Ornithorhynchus anatinus); in SWS2, λmax was 451.7 and 442.6 nm, respectively. Thus, the spectral range in echidna color vision is ~ 10 nm longer overall than in platypus. Natural selection analysis showed that the molecular evolution of monotreme color opsins is generally functionally conserved, suggesting that these taxa rely on species-specific color vision. In order to understand the usage of color vision in monotremes, we made 24-h behavioral observations of captive echidnas at warm temperatures and analyzed the resultant ethograms. Echidnas showed cathemeral activity and various behavioral repertoires such as feeding, traveling, digging, and self-grooming without light/dark environment selectivity. Halting (careful) behavior is more frequent in dark conditions, which suggests that echidnas may be more dependent on vision during the day and olfaction at night. Color vision functions have contributed to dynamic adaptations and dramatic ecological changes during the ~ 60 million years of divergent monotreme evolution. The ethogram of various day and night behaviors in captive echidnas also contributes information relevant to habitat conservation and animal welfare in this iconic species, which is locally endangered.

11.
PNAS Nexus ; 3(1): pgad481, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38213615

RESUMO

Although diurnal animals displaying monophasic sleep patterns exhibit periodic cycles of alternating slow-wave sleep (SWS) and rapid eye movement sleep (REMS), the regulatory mechanisms underlying these regular sleep cycles remain unclear. Here, we report that in the Australian dragon Pogona vitticeps exposed to constant darkness (DD), sleep behavior and sleep-related neuronal activity emerged over a 24-h cycle. However, the regularity of the REMS/SWS alternation was disrupted under these conditions. Notably, when the lizards were then exposed to 12 h of light after DD, the regularity of the sleep stages was restored. These results suggest that sleep-related neuronal activity in lizards is regulated by circadian rhythms and that the regularity of REMS and SWS cycling is influenced by daytime light exposure.

12.
Gene ; 897: 148059, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38043833

RESUMO

Common ancestor of vertebrates had four cone opsin subfamilies to obtain color vision: ultraviolet-sensitive (SWS1), blue-sensitive (SWS2), middle wavelength sensitive (RH2) and long wavelength sensitive (LWS). Nevertheless, eutherian mammals had lost the SWS2 and RH2 opsins during their nocturnal lifestyle. Many studies had demonstrated the role of SWS1 and LWS cones in feeding, mate choice and skin pigment cell formation. However, the role of SWS2 and RH2 cones remain elusive. In the present study, we used an ideal model visual system, zebrafish, which still have the four cone opsins, to generate a SWS2 knockout zebrafish line. Through various behavioral test, we found that sws2-/- zebrafish larvae exhibited increased food intake compared with WT. Additionally, there were significantly increased the gene expression of phototransduction pathways in sws2-/- zebrafish larvae. Compared to WT, mutant zebrafish showed weaker phototaxis of red light and changed sensitivity of yellow, red and blue lights. But both mutant and WT zebrafish preferred the red light than other wavelengths of light. Taken together, we proposed that SWS2 cone is not necessary for feeding and phototaxis in zebrafish.


Assuntos
Opsinas , Fototaxia , Peixe-Zebra , Animais , Mamíferos/metabolismo , Opsinas/genética , Opsinas/metabolismo , Células Fotorreceptoras Retinianas Cones/metabolismo , Peixe-Zebra/genética , Peixe-Zebra/metabolismo
13.
Animals (Basel) ; 13(19)2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37835711

RESUMO

Ensuring the welfare of commercially kept animals is a legal and ethical responsibility. Sleep behaviour can be sensitive to environmental perturbations and may be useful in assessing welfare state. The objective of this study was to use behavioural and electrophysiological (EEG) measures to observe the effects of 24 h stressors followed by periods of no stressors on laying hen sleep behaviour, and to investigate the use of sleep behaviour as a means of welfare assessment in commercial poultry. Ten laying hens surgically implanted with EEG devices to record their brain activity over four batches were used. Hens were subjected to undisturbed, disturbed and recovery periods for 24 h. Disturbed periods consisted of either feed deprivation, increased ambient temperature (28 °C) or simulated footpad pain via injection of Freund's adjuvant into the footpad. Sleep state was scored using behaviour data from infrared cameras and EEG data. Over all periods, hens engaged in both SWS (average 60%) and REM sleep (average 12%) during the lights-off period. Feed deprivation and footpad pain had little to no effect on sleep states, while increased ambient temperature significantly reduced REM sleep (to near elimination, p < 0.001) and SWS (p = 0.017). During the lights-on period, footpad pain increased the proportion of time spent resting (p = 0.008) and in SWS (p < 0.001), with feed deprivation or increased ambient temperature (p > 0.05) having no effect. Increasing ambient temperatures are likely to affect sleep and welfare in commercially-kept laying hens in the face of global climate change.

14.
Bioengineering (Basel) ; 10(10)2023 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-37892864

RESUMO

The fusion of machine learning and biomedical research offers novel ways to understand, diagnose, and treat various health conditions. However, the complexities of biomedical data, coupled with the intricate process of developing and deploying machine learning solutions, often pose significant challenges to researchers in these fields. Our pivotal achievement in this research is the introduction of the Automatic Semantic Machine Learning Microservice (AIMS) framework. AIMS addresses these challenges by automating various stages of the machine learning pipeline, with a particular emphasis on the ontology of machine learning services tailored to the biomedical domain. This ontology encompasses everything from task representation, service modeling, and knowledge acquisition to knowledge reasoning and the establishment of a self-supervised learning policy. Our framework has been crafted to prioritize model interpretability, integrate domain knowledge effortlessly, and handle biomedical data with efficiency. Additionally, AIMS boasts a distinctive feature: it leverages self-supervised knowledge learning through reinforcement learning techniques, paired with an ontology-based policy recording schema. This enables it to autonomously generate, fine-tune, and continually adapt to machine learning models, especially when faced with new tasks and data. Our work has two standout contributions demonstrating that machine learning processes in the biomedical domain can be automated, while integrating a rich domain knowledge base and providing a way for machines to have self-learning ability, ensuring they handle new tasks effectively. To showcase AIMS in action, we have highlighted its prowess in three case studies of biomedical tasks. These examples emphasize how our framework can simplify research routines, uplift the caliber of scientific exploration, and set the stage for notable advances.

15.
Neuroradiology ; 65(12): 1825-1834, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37794141

RESUMO

PURPOSE: Sturge-Weber syndrome (SWS) is a developmental disorder with venous hypertension and associated tissue responses including pial angiomatosis, cortical calcifications, and cerebral atrophy. Arterial spin-labeled (ASL) perfusion is an advanced MR sequence which can assess perfusion, without the need for contrast. We systematically evaluated the potential benefits of using ASL in Sturge-Weber syndrome, to determine the extent of intracranial perfusion abnormality and stage of disease, relevant for prognostication and surgical planning. METHODS: Two pediatric neuroradiologists retrospectively evaluated ASL perfusion imaging of 31 children with confirmed SWS and recorded the presence of hyper-perfusion, hypo-perfusion, or normal perfusion. The presence and distribution of ASL abnormality were compared against the presence and side of atrophy/calcification and pial angiomatosis on standard MR sequences. RESULTS: Thirty-one children (52% female, median age 16.7 months) with SWS had ASL imaging. Seven (23%) had hyper-perfusion, 15 (48%) had hypo-perfusion, and 9 (29%) had no perfusion abnormalities. ASL perfusion abnormality matched the location of SWS findings on conventional imaging in 86% (19/22). ASL demonstrated statistically significant increased perfusion in the early stage of the disease and decreased perfusion when there was atrophy. The parietal lobe was involved in 86% of cases. CONCLUSION: ASL perfusion imaging is an advanced technique which may contribute to earlier diagnosis and more accurate prognostication of Sturge-Weber syndrome, helping guide management and potential surgical planning.


Assuntos
Angiomatose , Síndrome de Sturge-Weber , Criança , Humanos , Feminino , Lactente , Masculino , Síndrome de Sturge-Weber/diagnóstico por imagem , Estudos Retrospectivos , Estudos Transversais , Imageamento por Ressonância Magnética/métodos , Perfusão , Atrofia
16.
Cells ; 12(17)2023 08 28.
Artigo em Inglês | MEDLINE | ID: mdl-37681889

RESUMO

Visual perception plays a crucial role in foraging, avoiding predators, mate selection, and communication. The regulation of color vision is largely dependent on opsin, which is the first step in the formation of the visual transduction cascade in photoreceptor cells. Short-wave-sensitive 1 (sws1) is a visual pigment that mediates short-wavelength light transduction in vertebrates. The depletion of sws1 resulted in increased M-opsin in mice. However, there is still no report on the visual function of sws1 in teleost fish. Here, we constructed the sws1 knockout medaka using CRISPR/Cas9 technology. The 6 dph (days post-hatching) medaka sws1-/- larvae exhibited significantly decreased food intake and total length at the first feeding stage, and the mRNA levels of orexigenic genes (npy and agrp) were significantly upregulated after feeding. The swimming speed was significantly reduced during the period of dark-light transition stimulation in the sws1-mutant larvae. Histological analysis showed that the thickness of the lens was reduced, whereas the thickness of the ganglion cell layer (GCL) was significantly increased in sws1-/- medaka larvae. Additionally, the deletion of sws1 decreased the mRNA levels of genes involved in phototransduction (gnb3b, grk7a, grk7b, and pde6c). We also observed increased retinal cell apoptosis and oxidative stress in sws1 knockout medaka larvae. Collectively, these results suggest that sws1 deficiency in medaka larvae may impair visual function and cause retinal cell apoptosis, which is associated with the downregulation of photoconduction expression and oxidative stress.


Assuntos
Visão de Cores , Oryzias , Animais , Técnicas de Inativação de Genes , Larva/genética , Opsinas/genética , Oryzias/genética , RNA Mensageiro
17.
Fish Physiol Biochem ; 49(5): 801-813, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37495865

RESUMO

Color vision is mediated by the expression of different major visual pigment proteins (opsins) on retinal photoreceptors. Vertebrates have four classes of cone opsins that are most sensitive to different wavelengths of light: short wavelength sensitive 1 (SWS1), short wavelength sensitive 2 (SWS2), medium wavelength sensitive (RH2), and long wavelength sensitive (LWS). UV wavelengths play important roles in foraging and communication. However, direct evidence provide links between sws1 and first feeding is lacking. Here, CRISPR/Cas9 technology was performed to generate mutant zebrafish lines with sws1 deletion. sws1 mutant zebrafish larvae exhibited decreased sws1, rh2-2, and lws1 expression, and increased rod gene (rho and gnat1) expression. Furthermore, the sws1-deficient larvae exhibited significantly reduced food intake, and the orexigenic genes npy and agrp signaling were upregulated at 6 days postfertilization (dpf). The transcription expression of sws1 and rh2-3 genes decreased in sws1-/- adults compared to wild type. Surprisingly, the results of feeding at the adult stage were not the same with larvae. sws1 deficiency did not affect food intake and appetite gene expression at adult stages. These results reveal a role for sws1 in normal cone development and first feeding in larval zebrafish.


Assuntos
Opsinas dos Cones , Peixe-Zebra , Animais , Opsinas dos Cones/genética , Opsinas dos Cones/metabolismo , Opsinas/genética , Opsinas/metabolismo , Células Fotorreceptoras de Vertebrados/metabolismo , Filogenia , Células Fotorreceptoras Retinianas Cones , Peixe-Zebra/genética , Peixe-Zebra/metabolismo
18.
Diagnostics (Basel) ; 13(9)2023 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-37174939

RESUMO

Background and aim: Diagnosing nonalcoholic steatohepatitis (NASH) is challenging. This study intended to explore the diagnostic value of multiple technical acoustic measurements in the diagnosis of NASH, and to establish a diagnostic model combining technical acoustic measurements with clinical parameters to improve the diagnostic efficacy of NASH. Methods: We consecutively enrolled 75 patients with clinically suspected nonalcoholic fatty liver disease (NAFLD) who underwent percutaneous liver biopsy in our hospital from June 2020 to December 2021. All cases underwent multiple advanced acoustic measurements for liver such as shear wave dispersion (SWD), shear wave speed (SWS), attenuation imaging (ATI), normalized local variance (NLV), and liver-kidney intensity ratio (Ratio) examination before liver biopsies. A nomogram prediction model combining the technical acoustic measurements and clinical parameters was established and the model is proposed to improve the diagnostic performance of NASH. Results: A total of 75 cases were included in this study. The classification of pathological grade for NASH was as follows: normal liver, (n = 15, 20%), nonalcoholic fatty liver (NAFL), (n = 44, 58.7%), and NASH, (n = 16, 21.3%). There were statistically significant differences in SWS (p = 0.002), acoustic coefficient (AC) (p = 0.018), NLV (p = 0.033), age (p = 0.013) and fasting blood glucose (Glu) (p = 0.049) between NASH and non-NASH. A nomogram model which includes SWS, AC, NLV, age and Glu was built to predict NASH, and the calibration curves showed good calibrations in both training and validation sets. The AUCs of the combined nomogram model for the training set and validation set were 0.8597 and 0.7794, respectively. Conclusion: There were statistically significant differences in SWS, AC, NLV, age and Glu between NASH and non-NASH. A nomogram model which includes SWS, AC, NLV, age and Glu was built to predict NASH. The predictive model has a higher diagnostic performance than a single factor model in the diagnosis of NASH and has good clinical application prospects.

19.
Int J Mol Sci ; 24(10)2023 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-37240129

RESUMO

The medaka (Oryzias latipes) is an excellent vertebrate model for studying the development of the retina. Its genome database is complete, and the number of opsin genes is relatively small compared to zebrafish. Short wavelength sensitive 2 (sws2), a G-protein-coupled receptor expressed in the retina, has been lost in mammals, but its role in eye development in fish is still poorly understood. In this study, we established a sws2a and sws2b knockout medaka model by CRISPR/Cas9 technology. We discovered that medaka sws2a and sws2b are mainly expressed in the eyes and may be regulated by growth differentiation factor 6a (gdf6a). Compared with the WT, sws2a-/- and sws2b-/- mutant larvae displayed an increase in swimming speed during the changes from light to dark. We also observed that sws2a-/- and sws2b-/- larvae both swam faster than WT in the first 10 s of the 2 min light period. The enhanced vision-guided behavior in sws2a-/- and sws2b-/- medaka larvae may be related to the upregulation of phototransduction-related genes. Additionally, we also found that sws2b affects the expression of eye development genes, while sws2a is unaffected. Together, these findings indicate that sws2a and sws2b knockouts increase vision-guided behavior and phototransduction, but on the other hand, sws2b plays an important role in regulating eye development genes. This study provides data for further understanding of the role of sws2a and sws2b in medaka retina development.


Assuntos
Oryzias , Animais , Oryzias/metabolismo , Peixe-Zebra/genética , Peixe-Zebra/metabolismo , Opsinas/genética , Opsinas de Bastonetes/genética , Retina/metabolismo , Mamíferos/metabolismo , Proteínas de Peixe-Zebra/metabolismo , Fator 6 de Diferenciação de Crescimento
20.
Animals (Basel) ; 13(7)2023 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-37048507

RESUMO

The positive welfare of commercial animals presents many benefits, making the accurate assessment of welfare important. Assessments frequently use behaviour to determine welfare state; however, nighttime behaviours are often ignored. Sleep behaviour may offer new insights into welfare assessments. This study aimed to establish a baseline for sleep behaviour in laying hens and to then apply mild short-term disturbances and observe the subsequent effects. Twelve laying hens were divided into four batches and were surgically implanted with electroencephalogram (EEG) devices to record their brain activity. The batches were subjected to undisturbed, disturbed and recovery types of nights. Disturbed nights consisted of systematic sequences of disturbance application (wind, 90 dB noise or 20 lux light) applied one at a time for 5 min every 30 min from 21:00 to 03:00 (lights off period: 19:00-05:00). Sleep state was scored using EEG data and behaviour data from infrared cameras. Over all the types of night hens engaged in both SWS (58%) and REM sleep (18%) during lights off. When applied, the disturbances were effective at altering the amounts of wakefulness and SWS (Time × Type of Night, p < 0.001, p = 0.017, respectively), whereas REM sleep was unaltered (p = 0.540). There was no evidence of carry-over effects over the following day or night. Laying hens may be resilient to short-term sleep disruption by compensating for this in the same night, suggesting that these disturbances do not impact their long-term welfare (i.e., over days). Sleep behaviour potentially offers a unique means of assessing an aspect of animal welfare that, to date, has been poorly studied.

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