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1.
Cell ; 169(3): 457-469.e13, 2017 04 20.
Artigo em Inglês | MEDLINE | ID: mdl-28431246

RESUMO

Fat metabolism has been linked to fertility and reproductive adaptation in animals and humans, and environmental sex determination potentially plays a role in the process. To investigate the impact of fatty acids (FA) on sex determination and reproductive development, we examined and observed an impact of FA synthesis and mobilization by lipolysis in somatic tissues on oocyte fate in Caenorhabditis elegans. The subsequent genetic analysis identified ACS-4, an acyl-CoA synthetase and its FA-CoA product, as key germline factors that mediate the role of FA in promoting oocyte fate through protein myristoylation. Further tests indicated that ACS-4-dependent protein myristoylation perceives and translates the FA level into regulatory cues that modulate the activities of MPK-1/MAPK and key factors in the germline sex-determination pathway. These findings, including a similar role of ACS-4 in a male/female species, uncover a likely conserved mechanism by which FA, an environmental factor, regulates sex determination and reproductive development.


Assuntos
Acetato-CoA Ligase/metabolismo , Proteínas de Caenorhabditis elegans/metabolismo , Caenorhabditis elegans/fisiologia , Ácidos Graxos/metabolismo , Ácido Mirístico/metabolismo , Processamento de Proteína Pós-Traducional , Processos de Determinação Sexual , Acetato-CoA Ligase/genética , Animais , Proteínas de Caenorhabditis elegans/genética , Mutação , Oócitos/metabolismo
2.
Mol Cell ; 83(5): 715-730.e6, 2023 03 02.
Artigo em Inglês | MEDLINE | ID: mdl-36868189

RESUMO

Transcriptional enhancers have been extensively characterized, but cis-regulatory elements involved in acute gene repression have received less attention. Transcription factor GATA1 promotes erythroid differentiation by activating and repressing distinct gene sets. Here, we study the mechanism by which GATA1 silences the proliferative gene Kit during murine erythroid cell maturation and define stages from initial loss of activation to heterochromatinization. We find that GATA1 inactivates a potent upstream enhancer but concomitantly creates a discrete intronic regulatory region marked by H3K27ac, short noncoding RNAs, and de novo chromatin looping. This enhancer-like element forms transiently and serves to delay Kit silencing. The element is ultimately erased via the FOG1/NuRD deacetylase complex, as revealed by the study of a disease-associated GATA1 variant. Hence, regulatory sites can be self-limiting by dynamic co-factor usage. Genome-wide analyses across cell types and species uncover transiently active elements at numerous genes during repression, suggesting that modulation of silencing kinetics is widespread.


Assuntos
Estudo de Associação Genômica Ampla , Sequências Reguladoras de Ácido Nucleico , Animais , Camundongos , Íntrons , Diferenciação Celular , Inativação Gênica , Complexo Mi-2 de Remodelação de Nucleossomo e Desacetilase
3.
Proc Natl Acad Sci U S A ; 121(32): e2402252121, 2024 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-39074268

RESUMO

Drop-fiber interactions are fundamental to the operation of technologies such as atmospheric fog capture, oil filtration, refrigeration, and dehumidification. We demonstrate that by twisting together two fibers, a sliding drop's flow path can be controlled by tuning the ratio between its size and the twist wavelength. We find both experimentally and numerically that twisted fiber systems are able to asymmetrically stabilize drops, both enhancing drop transport speeds and creating a rich array of new flow patterns. We show that the passive flow control generated by twisting fibers allows for woven nets that can be "programmed" with junctions that predetermine drop interactions and can be anticlogging. Furthermore, it is shown that twisted fiber structures are significantly more effective at capturing atmospheric fog compared to straight fibers.

4.
Development ; 149(15)2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35876688

RESUMO

Epithelial tube formation requires Rho1-dependent actomyosin contractility to generate the cellular forces that drive cell shape changes and rearrangement. Rho1 signaling is activated by G-protein-coupled receptor (GPCR) signaling at the cell surface. During Drosophila embryonic salivary gland (SG) invagination, the GPCR ligand Folded gastrulation (Fog) activates Rho1 signaling to drive apical constriction. The SG receptor that transduces the Fog signal into Rho1-dependent myosin activation has not been identified. Here, we reveal that the Smog GPCR transduces Fog signal to regulate Rho kinase accumulation and myosin activation in the medioapical region of cells to control apical constriction during SG invagination. We also report on unexpected Fog-independent roles for Smog in maintaining epithelial integrity and organizing cortical actin. Our data support a model wherein Smog regulates distinct myosin pools and actin cytoskeleton in a ligand-dependent manner during epithelial tube formation.


Assuntos
Proteínas de Drosophila , Animais , Drosophila/metabolismo , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Ligantes , Morfogênese , Miosinas , Receptores Acoplados a Proteínas G/genética , Smog
5.
Nano Lett ; 24(25): 7774-7782, 2024 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-38847520

RESUMO

Various methods to solve water scarcity have attracted increasing attention. However, most existing water harvesting schemes have a high demand for preparation methods and costs. Here, a multi-biomimetic double interlaced wetting Janus surface (DIWJS) was prepared by laser for effective fog collection. The as-prepared surfaces are composed of superhydrophilic points/hydrophobic substrates on the A-side and superhydrophilic stripes/hydrophobic substrates on the B-side. The interlaced wettability and superhydrophilic points on the A side are conducive to capture and permeation of droplets. The superhydrophilic stripes and interlaced wettability on the B-side are conducive to transportation and shedding of droplets. Therefore, the overall fog collection process is accelerated. The proposal of smart farm model validates broad application prospects of DIWJS. This work provides an advanced and multi-biomimetic surface and provides important insights for green, low-cost, and versatile strategies to solve water scarcity issues.

6.
Small ; 20(30): e2312112, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38409650

RESUMO

Harvesting freshwater from fog is one of the possible solutions to the global water scarcity crisis. Surfaces with both hydrophobic and hydrophilic regions are extensively employed for this purpose. Nevertheless, the longevity of these surfaces is still constrained by their delicate surface structures. The hydrophilic zones may become damaged or contaminated after repeated use, thereby compromising their effectiveness in fog collection. The preparation of generally applicable durable superhydrophobic coatings with self-generated Wenzel sites is reported here for long-term efficient and stable fog collection. The coatings are prepared by depositing the poly(tannic acid) coating as the primer layer on various substrates, self-assembly of trichlorovinylsilane into staggered silicone nanofilaments, and then thiol-ene click reaction with 1H,1H,2H,2H-perfluorodecanethiol. The coatings demonstrate remarkable static superhydrophobicity, robust impalement resistance, and stable self-generated Wenzel sites for water droplets. Therefore, the fog collection rate (FCR) of the coatings reaches 2.13 g cm-2 h-1 during 192 h continuous fog collection, which is triple that of bare substrate and outperforms most previous studies. Moreover, the systematic experiments and models have revealed that the key factors for achieving high FCR on superhydrophobic coatings are forming condensed droplets ≈1 mm in critical radius and a Wenzel site proportion of 0.3-0.4.

7.
Small ; : e2400466, 2024 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-38676346

RESUMO

The efficient removal of droplets on solid surfaces holds significant importance in the field of fog collection, condensation heat transfer, and so on. However, on current typical surfaces, droplets are characterized by a passive and single removal mode, contingent on the traction force (e.g., capillary force, Laplace pressure, etc.) generated by the surface's physics and chemistry design, posing challenges for enhancing the efficiency of droplet removal. In this paper, an effective active strategy based on different removal modes is demonstrated on magnetic responsive polydimethylsiloxane (PDMS) superhydrophobic microplates (RM-MPSM). By regulating the parameters of microplates and droplet volume, different effective departure modes (top jumping and side departure) can be induced to facilitate the removal of droplets. Moreover, the removal volume of droplets through the side departure mode exhibits a significant reduction compared to that observed in the top jumping mode. The exceptional removal ability of RM-MPSM demonstrates adaptability to diverse functional applications: efficient fog collection, removal of condensation droplets and micro-particles. The efficient modes of droplet removal demonstrated in this work hold significant implications for broadening its application in many fields, such as droplet collection, heat transfer, and anti-icing.

8.
Small ; : e2403260, 2024 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-39032136

RESUMO

Conventional fog collection efficiency is subject to the inherent inefficiencies of its three constituent steps: fog capture, coalescence, and transportation. This study presents a liquid bridge synergistic fog collection system (LSFCS) by synergistically utilizing a liquid bridge and interconnected porous superhydrophilic structures (IPHS). The results indicate that the introduction of liquid bridge not only greatly accelerates water droplet transportation, but also facilitates the IPHS in maintaining rough structures that realize stable and efficient fog capture. During fog collection, the lower section of the IPHS is covered by a water layer, however due to the effect of the liquid bridge, the upper section protrudes out, while covered by a connective thin water film that does not obscure the microstructures of the upper section. Under these conditions, a one-step fog collection mode is realized. Once captured by the IPHS, fog droplets immediately coalesce with the water film, and are simultaneously transported into a container under the effect of the liquid bridge. The LSFCS achieves a collection efficiency of 6.5 kg m-2 h-1, 2.3 times that of a system without a liquid bridge. This study offers insight on improving fog collection efficiency, and holds promise for condensation water collection or droplet manipulation.

9.
Glob Chang Biol ; 30(1): e17068, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38273559

RESUMO

Soils in hyper-arid climates, such as the Chilean Atacama Desert, show indications of past and present forms of life despite extreme water limitations. We hypothesize that fog plays a key role in sustaining life. In particular, we assume that fog water is incorporated into soil nutrient cycles, with the inland limit of fog penetration corresponding to the threshold for biological cycling of soil phosphorus (P). We collected topsoil samples (0-10 cm) from each of 54 subsites, including sites in direct adjacency (<10 cm) and in 1 m distance to plants, along an aridity gradient across the Coastal Cordillera. Satellite-based fog detection revealed that Pacific fog penetrates up to 10 km inland, while inland sites at 10-23 km from the coast rely solely on sporadic rainfall for water supply. To assess biological P cycling we performed sequential P fractionation and determined oxygen isotope of HCl-extractable inorganic P δ 18 O HCl - P i $$ \mathrm{P}\ \left({\updelta}^{18}{\mathrm{O}}_{\mathrm{HCl}-{\mathrm{P}}_{\mathrm{i}}}\right) $$ . Total P (Pt ) concentration exponentially increased from 336 mg kg-1 to a maximum of 1021 mg kg-1 in inland areas ≥10 km. With increasing distance from the coast, soil δ 18 O HCl - P i $$ {\updelta}^{18}{\mathrm{O}}_{\mathrm{HCl}-{\mathrm{P}}_{\mathrm{i}}} $$ values declined exponentially from 16.6‰ to a constant 9.9‰ for locations ≥10 km inland. Biological cycling of HCl-Pi near the coast reached a maximum of 76%-100%, which could only be explained by the fact that fog water predominately drives biological P cycling. In inland regions, with minimal rainfall (<5 mm) as single water source, only 24 ± 14% of HCl-Pi was biologically cycled. We conclude that biological P cycling in the hyper-arid Atacama Desert is not exclusively but mainly mediated by fog, which thus controls apatite dissolution rates and related occurrence and spread of microbial life in this extreme environment.


Assuntos
Fósforo , Solo , Isótopos de Oxigênio , Água , Chile , Clima Desértico
10.
Brain Behav Immun ; 119: 989-994, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38735404

RESUMO

BACKGROUND: Cognitive impairment is often reported after SARS-CoV-2 infection, yet evidence gaps remain. We aimed to (i) report the prevalence and characteristics of children and young people (CYP) reporting "brain fog" (i.e., cognitive impairment) 12-months post PCR-proven SARS-CoV-2 infection and determine whether differences by infection status exist and (ii) explore the prevalence of CYP experiencing cognitive impairment over a 12-month period post-infection and investigate the relationship between cognitive impairment and poor mental health and well-being, mental fatigue and sleep problems. METHODS: The Omicron CLoCk sub-study, set up in January 2022, collected data on first-time PCR-test-positive and PCR-proven reinfected CYP at time of testing and at 3-, 6- and 12-months post-testing. We describe the prevalence of cognitive impairment at 12-months, indicating when it was first reported. We characterise CYP experiencing cognitive impairment and use chi-squared tests to determine whether cognitive impairment prevalence varied by infection status. We explore the relationship between cognitive impairment and poor mental health and well-being, mental fatigue and trouble sleeping using validated scales. We examine associations at 3-, 6- and 12-months post-testing by infection status using Mann-Whitney U and chi-square tests. RESULTS: At 12-months post-testing, 7.0 % (24/345) of first-positives and 7.5 % (27/360) of reinfected CYP experienced cognitive impairment with no difference between infection-status groups (p = 0.78). The majority of these CYP experienced cognitive impairment for the first time at either time of testing or 3-months post-test (no difference between the infection-status groups; p = 0.60). 70.8 % of first-positives experiencing cognitive impairment at 12-months, were 15-to-17-years-old as were 33.3 % of reinfected CYP experiencing cognitive impairment (p < 0.01). Consistently at all time points post-testing, CYP experiencing cognitive impairment were more likely to score higher on all Strengths and Difficulties Questionnaire subscales, higher on the Chalder Fatigue sub-scale for mental fatigue, lower on the Short Warwick-Edinburgh Mental Wellbeing Scale and report more trouble sleeping. CONCLUSIONS: CYP have a fluctuating experience of cognitive impairment by 12-months post SARS-CoV-2-infection. Cognitive impairment is consistently correlated with poorer sleep, behavioural and emotional functioning over a 12-month period. Clinicians should be aware of cognitive impairment post-infection and its co-occurring nature with poorer sleep, behavioural and mental health symptoms.


Assuntos
COVID-19 , Disfunção Cognitiva , SARS-CoV-2 , Humanos , COVID-19/epidemiologia , COVID-19/psicologia , COVID-19/complicações , Disfunção Cognitiva/epidemiologia , Masculino , Feminino , Adolescente , Criança , Prevalência , Transtornos do Sono-Vigília/epidemiologia , Adulto Jovem , Fadiga Mental/epidemiologia , Saúde Mental , Pré-Escolar
11.
Environ Sci Technol ; 58(8): 3812-3822, 2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38358300

RESUMO

Fog harvesting is considered a promising freshwater collection strategy for overcoming water scarcity, because of its environmental friendliness and strong sustainability. Typically, fogging occurs briefly at night and in the early morning in most arid and semiarid regions. However, studies on water collection from short-term fog are scarce. Herein, we developed a patterned surface with highly hydrophilic interconnected microchannels on a superhydrophobic surface to improve droplet convergence driven by the Young-Laplace pressure difference. With a rationally designed surface structure, the optimized water collection rate from mild fog could reach up to 67.31 g m-2 h-1 (6.731 mg cm-2 h-1) in 6 h; this value was over 130% higher than that observed on the pristine surface. The patterned surface with interconnected microchannels significantly shortened the startup time, which was counted from the fog contact to the first droplet falling from the fog-harvesting surface. The patterned surface was also facilely prepared via a controllable strategy combining laser ablation and chemical vapor deposition. The results obtained in outdoor environments indicate that the rationally designed surface has the potential for short-term fog harvesting. This work can be considered as a meaningful attempt to address the practical issues encountered in fog-harvesting research.


Assuntos
Água Doce , Água , Gases , Pressão , Tempo (Meteorologia) , Interações Hidrofóbicas e Hidrofílicas
12.
Artigo em Inglês | MEDLINE | ID: mdl-38739263

RESUMO

Cognitive symptoms (CS) belong to the most common manifestations of the Post COVID-19 (PC) condition. We sought to objectify CS in PC patients using routine diagnostic assessments: neurocognitive testing (NCT) and brain imaging (BI). Further, we investigated possible associations of CS with patient reported outcomes (PROs), and risk factors for developing CS. Clinical data and PROs of 315 PC patients were assessed at a mean of 6 months after SARS-CoV-2 infection. 231 (73.3%) patients reported any sort of CS. Among them, 78 underwent NCT and 55 received BI. In NCT, the cognitive domains most affected were the working memory, attention, and concentration. Nonetheless, pathological thresholds were exceeded only in few cases. Neurocognitive performance did not differ significantly between patients complaining of severe (n = 26) versus non-severe (n = 52) CS. BI findings were abnormal in 8 (14.5%) cases with CS but were most likely not related to PC. Patients reporting high severity of CS scored worse in the PHQ-9, FSS, WHOQOL-BREF, were more likely to report impaired sleep, and had a higher prevalence of psychiatric diagnoses. Overall, NCT could confirm mild impairment in some but not all PC patients with CS, while BI studies were abnormal in only few cases. CS severity did not affect NCT results, but severe CS were associated with symptoms of depression (PHQ-9), fatigue (FSS), reduced quality of life (WHOQOL-BREF) and higher prevalence of psychiatric illnesses. These findings support the importance of NCT, BI, and neuro-psychological assessment in the work-up of PC patients reporting CS. TRIAL REGISTRATION: Trial registration number and date of registration: DRKS00030974, 22 Dec 2022, retrospectively registered.

13.
Artigo em Inglês | MEDLINE | ID: mdl-38231397

RESUMO

Patients suffering from post-acute sequelae of COVID-19 (PASC) have a higher prevalence of anxiety and depression than the general population. The long-term trajectory of these sequelae is still unfolding. To assess the burden of anxiety and depression among patients presenting to the University of Iowa Hospitals and Clinics (UIHC) post-COVID-19 clinic, we analyzed how patient factors influenced Generalized Anxiety Disorder-7 (GAD-7) and Patient Health Questionnaire-9 (PHQ-9) scores. In this retrospective cohort study, the GAD-7 and PHQ-9 questionnaire scores of patients presenting to the UIHC post-COVID clinic between March 2021-February 2022 (N = 455) were compared to the scores of a sample of patients presenting to the general internal medicine (GIM) clinic during the same period (N = 94). Our analysis showed that patients with an absent history of depression on their electronic medical record (EMR) problem list scored significantly higher on the GAD-7 (mean difference -1.62, 95% CI -3.12 to -0.12, p = 0.034) and PHQ-9 (mean difference -4.45, 95% CI -5.53 to -3.37, p < 0.001) questionnaires compared to their similar counterparts in the GIM clinic. On the other hand, patients with an absent history of anxiety on their EMR problem list scored significantly higher on the GAD-7 (mean difference -2.90, 95% CI -4.0 to -1.80, p < 0.001) but not on the PHQ-9 questionnaire (p = 0.196). Overall, patients with PASC may have experienced a heavier burden of newly manifest anxiety and depression symptoms compared to patients seen in the GIM clinic. This suggests that the mental health impacts of PASC may be more pronounced in patients with no prior history of anxiety or depression.

14.
Neurol Sci ; 45(7): 2951-2968, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38695969

RESUMO

Individuals suffering from long-COVID can present with "brain fog", which is characterized by a range of cognitive impairments, such as confusion, short-term memory loss, and difficulty concentrating. To date, several potential interventions for brain fog have been considered. Notably, no systematic review has comprehensively discussed the impact of each intervention type on brain fog symptoms. We included studies on adult (aged > 18 years) individuals with proven long- COVID brain-fog symptoms from PubMed, MEDLINE, Central, Scopus, and Embase. A search limit was set for articles published between 01/2020 and 31/12/2023. We excluded studies lacking an objective assessment of brain fog symptoms and patients with preexisting neurological diseases that affected cognition before COVID-19 infection. This review provided relevant information from 17 studies. The rehabilitation studies utilized diverse approaches, leading to a range of outcomes in terms of the effectiveness of the interventions. Six studies described noninvasive brain stimulation, and all showed improvement in cognitive ability. Three studies described hyperbaric oxygen therapy, all of which showed improvements in cognitive assessment tests and brain perfusion. Two studies showed that the use of Palmitoylethanolamide and Luteolin (PEA-LUT) improved cognitive impairment. Noninvasive brain stimulation and hyperbaric oxygen therapy showed promising results in the treatment of brain fog symptoms caused by long-COVID, with improved perfusion and cortical excitability. Furthermore, both rehabilitation strategies and PEA-LUT administration have been associated with improvements in symptoms of brain fog. Future studies should explore combinations of interventions and include longer follow-up periods to assess the long-term effects of these treatments.


Assuntos
Disfunção Cognitiva , Fadiga Mental , Síndrome de COVID-19 Pós-Aguda , Humanos , Encéfalo , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/terapia , Disfunção Cognitiva/fisiopatologia , COVID-19/complicações , Oxigenoterapia Hiperbárica/métodos , Síndrome de COVID-19 Pós-Aguda/terapia , SARS-CoV-2 , Estimulação Transcraniana por Corrente Contínua/métodos , Estimulação Magnética Transcraniana/métodos , Fadiga Mental/terapia
15.
BMC Med Imaging ; 24(1): 123, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38797827

RESUMO

The quick proliferation of pandemic diseases has been imposing many concerns on the international health infrastructure. To combat pandemic diseases in smart cities, Artificial Intelligence of Things (AIoT) technology, based on the integration of artificial intelligence (AI) with the Internet of Things (IoT), is commonly used to promote efficient control and diagnosis during the outbreak, thereby minimizing possible losses. However, the presence of multi-source institutional data remains one of the major challenges hindering the practical usage of AIoT solutions for pandemic disease diagnosis. This paper presents a novel framework that utilizes multi-site data fusion to boost the accurateness of pandemic disease diagnosis. In particular, we focus on a case study of COVID-19 lesion segmentation, a crucial task for understanding disease progression and optimizing treatment strategies. In this study, we propose a novel multi-decoder segmentation network for efficient segmentation of infections from cross-domain CT scans in smart cities. The multi-decoder segmentation network leverages data from heterogeneous domains and utilizes strong learning representations to accurately segment infections. Performance evaluation of the multi-decoder segmentation network was conducted on three publicly accessible datasets, demonstrating robust results with an average dice score of 89.9% and an average surface dice of 86.87%. To address scalability and latency issues associated with centralized cloud systems, fog computing (FC) emerges as a viable solution. FC brings resources closer to the operator, offering low latency and energy-efficient data management and processing. In this context, we propose a unique FC technique called PANDFOG to deploy the multi-decoder segmentation network on edge nodes for practical and clinical applications of automated COVID-19 pneumonia analysis. The results of this study highlight the efficacy of the multi-decoder segmentation network in accurately segmenting infections from cross-domain CT scans. Moreover, the proposed PANDFOG system demonstrates the practical deployment of the multi-decoder segmentation network on edge nodes, providing real-time access to COVID-19 segmentation findings for improved patient monitoring and clinical decision-making.


Assuntos
COVID-19 , Aprendizado Profundo , Pandemias , Tomografia Computadorizada por Raios X , Humanos , Tomografia Computadorizada por Raios X/métodos , SARS-CoV-2 , Cidades , Internet das Coisas
16.
Adv Exp Med Biol ; 1458: 59-76, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39102190

RESUMO

The chapter explores the role of neuropsychology in understanding brain fog as a subjective complaint in the context of COVID-19. It discusses the historical and medical significance of the term "brain fog" and its psychological and neurological aspects. The chapter identifies the cognitive domains commonly affected by brain fog, such as attention, executive function, memory, and language. Additionally, it emphasizes the impact of societal changes during the COVID-19 pandemic on the general population as a crucial backdrop for understanding the issue. The chapter also highlights the important role of clinical and research neuropsychologists in gaining clarity on grouped data and individual patients' cognitive and emotional difficulties after COVID-19 infection. It discusses indications for neuropsychological rehabilitation and therapy and describes typical therapy phases and methods, including new approaches like telemedicine, virtual reality, and mobile app-based rehabilitation and self-tracking. The chapter underscores that experiences of brain fog can vary among COVID-19 patients and may change over time. It provides clinicians and interested parties with an in-depth understanding of brain fog and its manifestations, concomitant subtypes, and concrete strategies for addressing it. The chapter emphasizes the critical role of neuropsychology in scientifically examining brain fog and advocating for personalized approaches to cognitive rehabilitation.


Assuntos
COVID-19 , Neuropsicologia , SARS-CoV-2 , COVID-19/psicologia , COVID-19/virologia , Humanos , Neuropsicologia/métodos , Função Executiva/fisiologia , Encéfalo/fisiopatologia , Encéfalo/virologia , Telemedicina , Atenção/fisiologia , Cognição/fisiologia , Disfunção Cognitiva/psicologia , Disfunção Cognitiva/fisiopatologia , Pandemias
17.
Adv Exp Med Biol ; 1441: 915-928, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38884760

RESUMO

Ebstein's anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this entity are the downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Additional intracardiac malformations are common. From an embryological point of view, the cavity of the future right atrium does not have a direct orifice connected to the developing right ventricle. This chapter provides an overview of current insight into how this connection is formed and how malformations of the tricuspid valve arise from dysregulation of molecular and morphological events involved in this process. Furthermore, mouse models that show features of Ebstein's anomaly and the naturally occurring model of canine tricuspid valve malformation are described and compared to the human model. Although Ebstein's anomaly remains one of the least understood cardiac malformations to date, the studies summarized here provide, in aggregate, evidence for monogenic and oligogenic factors driving pathogenesis.


Assuntos
Modelos Animais de Doenças , Anomalia de Ebstein , Valva Tricúspide , Anomalia de Ebstein/genética , Anomalia de Ebstein/patologia , Anomalia de Ebstein/fisiopatologia , Animais , Humanos , Cães , Camundongos , Valva Tricúspide/anormalidades , Valva Tricúspide/patologia
18.
Adv Exp Med Biol ; 1441: 875-884, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38884756

RESUMO

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled.


Assuntos
Atresia Tricúspide , Humanos , Aberrações Cromossômicas , Fenótipo , Atresia Tricúspide/genética , Coração Univentricular/genética
19.
Adv Exp Med Biol ; 1441: 629-644, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38884738

RESUMO

Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and the neural crest, which can occur as isolated malformations or as part of multiorgan syndromes. Their etiology is multifactorial and characterized by overlapping genetic causes. In this chapter, we present the different genetic alterations underlying the two diseases, which range from chromosomal abnormalities like aneuploidies and structural mutations to rare single nucleotide variations affecting distinct genes. For example, mutations in the cardiac transcription factors NKX2-5, GATA4, and HAND2 have been identified in isolated TOF cases, while mutations of TBX5 and 22q11 deletion, leading to haploinsufficiency of TBX1, cause Holt-Oram and DiGeorge syndrome, respectively. Moreover, genes involved in signaling pathways, laterality determination, and epigenetic mechanisms have also been found mutated in TOF and/or DORV patients. Finally, genome-wide association studies identified common single nucleotide polymorphisms associated with the risk for TOF.


Assuntos
Dupla Via de Saída do Ventrículo Direito , Tetralogia de Fallot , Humanos , Tetralogia de Fallot/genética , Dupla Via de Saída do Ventrículo Direito/genética , Mutação , Estudo de Associação Genômica Ampla , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença/genética , Fatores de Transcrição/genética
20.
J Integr Neurosci ; 23(5): 105, 2024 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-38812399

RESUMO

BACKGROUND: Long-Covid, characterized by persistent symptoms following acute Covid-19 infection, represents a complex challenge for the scientific community. Among the most common and debilitating manifestations, cognitive fog is a neurological disorder characterized by mental confusion and cognitive difficulties. In this study, we investigated the long-term effects of previous Covid-19 infection on cortical brain activity in patients experiencing cognitive fog symptoms in the medium and long term. METHODS: A total of 40 subjects (20 females and 20 males) aged between 45 and 70 years (mean age (M) = 59.78, standard deviation (SD) = 12.93) participated in this study. This sample included individuals with symptoms of cognitive fog, both with and without anosmia, and a control group comprised of healthy subjects. All electroencephalography (EEG) data were collected in two sessions, 1 month and 8 months after recovery from Covid-19, to measure the neurophysiological parameters of P300 and beta band rhythms. RESULTS: The results revealed significant differences in the neurophysiological parameters of P300 and beta band rhythms in subjects affected by cognitive fog, and these alterations persist even 8 months after recovery from Covid-19. Interestingly, no significant differences were observed between the participants with anosmia and without anosmia associated with cognitive fog. CONCLUSIONS: These findings provide a significant contribution to understanding the long-term effects of Covid-19 on the brain and have important implications for future interventions aimed at managing and treating brain fog symptoms. The longitudinal assessment of cortical brain activity helps highlight the persistent impact of the virus on the neurological health of Long-Covid patients.


Assuntos
Anosmia , COVID-19 , Córtex Cerebral , Disfunção Cognitiva , Eletroencefalografia , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , COVID-19/complicações , COVID-19/fisiopatologia , Idoso , Anosmia/fisiopatologia , Anosmia/etiologia , Estudos Longitudinais , Córtex Cerebral/fisiopatologia , Disfunção Cognitiva/fisiopatologia , Disfunção Cognitiva/etiologia , Potenciais Evocados P300/fisiologia , Ritmo beta/fisiologia
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