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1.
Proc Natl Acad Sci U S A ; 120(11): e2207831120, 2023 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-36897972

RESUMO

During propofol-induced general anesthesia, alpha rhythms measured using electroencephalography undergo a striking shift from posterior to anterior, termed anteriorization, where the ubiquitous waking alpha is lost and a frontal alpha emerges. The functional significance of alpha anteriorization and the precise brain regions contributing to the phenomenon are a mystery. While posterior alpha is thought to be generated by thalamocortical circuits connecting nuclei of the sensory thalamus with their cortical partners, the thalamic origins of the propofol-induced alpha remain poorly understood. Here, we used human intracranial recordings to identify regions in sensory cortices where propofol attenuates a coherent alpha network, distinct from those in the frontal cortex where it amplifies coherent alpha and beta activities. We then performed diffusion tractography between these identified regions and individual thalamic nuclei to show that the opposing dynamics of anteriorization occur within two distinct thalamocortical networks. We found that propofol disrupted a posterior alpha network structurally connected with nuclei in the sensory and sensory associational regions of the thalamus. At the same time, propofol induced a coherent alpha oscillation within prefrontal cortical areas that were connected with thalamic nuclei involved in cognition, such as the mediodorsal nucleus. The cortical and thalamic anatomy involved, as well as their known functional roles, suggests multiple means by which propofol dismantles sensory and cognitive processes to achieve loss of consciousness.


Assuntos
Propofol , Humanos , Propofol/farmacologia , Estado de Consciência , Eletroencefalografia , Encéfalo , Tálamo , Inconsciência/induzido quimicamente , Vias Neurais , Córtex Cerebral
2.
Brain ; 147(4): 1511-1525, 2024 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-37988272

RESUMO

It is debated whether primary progressive apraxia of speech (PPAOS) and progressive agrammatic aphasia (PAA) belong to the same clinical spectrum, traditionally termed non-fluent/agrammatic variant primary progressive aphasia (nfvPPA), or exist as two completely distinct syndromic entities with specific pathologic/prognostic correlates. We analysed speech, language and disease severity features in a comprehensive cohort of patients with progressive motor speech impairment and/or agrammatism to ascertain evidence of naturally occurring, clinically meaningful non-overlapping syndromic entities (e.g. PPAOS and PAA) in our data. We also assessed if data-driven latent clinical dimensions with aetiologic/prognostic value could be identified. We included 98 participants, 43 of whom had an autopsy-confirmed neuropathological diagnosis. Speech pathologists assessed motor speech features indicative of dysarthria and apraxia of speech (AOS). Quantitative expressive/receptive agrammatism measures were obtained and compared with healthy controls. Baseline and longitudinal disease severity was evaluated using the Clinical Dementia Rating Sum of Boxes (CDR-SB). We investigated the data's clustering tendency and cluster stability to form robust symptom clusters and employed principal component analysis to extract data-driven latent clinical dimensions (LCD). The longitudinal CDR-SB change was estimated using linear mixed-effects models. Of the participants included in this study, 93 conformed to previously reported clinical profiles (75 with AOS and agrammatism, 12 PPAOS and six PAA). The remaining five participants were characterized by non-fluent speech, executive dysfunction and dysarthria without apraxia of speech or frank agrammatism. No baseline clinical features differentiated between frontotemporal lobar degeneration neuropathological subgroups. The Hopkins statistic demonstrated a low cluster tendency in the entire sample (0.45 with values near 0.5 indicating random data). Cluster stability analyses showed that only two robust subgroups (differing in agrammatism, executive dysfunction and overall disease severity) could be identified. Three data-driven components accounted for 71% of the variance [(i) severity-agrammatism; (ii) prominent AOS; and (iii) prominent dysarthria]. None of these data-driven LCDs allowed an accurate prediction of neuropathology. The severity-agrammatism component was an independent predictor of a faster CDR-SB increase in all the participants. Higher dysarthria severity, reduced words per minute and expressive and receptive agrammatism severity at baseline independently predicted accelerated disease progression. Our findings indicate that PPAOS and PAA, rather than exist as completely distinct syndromic entities, constitute a clinical continuum. In our cohort, splitting the nfvPPA spectrum into separate clinical phenotypes did not improve clinical-pathological correlations, stressing the need for new biological markers and consensus regarding updated terminology and clinical classification.


Assuntos
Afasia Primária Progressiva , Apraxias , Afasia Primária Progressiva não Fluente , Humanos , Afasia de Broca/patologia , Disartria , Apraxias/patologia , Idioma , Fala
3.
Nano Lett ; 24(34): 10504-10509, 2024 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-39075987

RESUMO

Strain is a powerful tool for tuning the properties of two-dimensional materials. Here, we investigated the effects of large, uniform biaxial compressive strain on the superconducting phase transition of multilayered 2H-NbSe2 flakes. We observed a consistent decrease in the critical temperature of NbSe2 flakes induced by the large thermal compression of a polymeric substrate (>1.2%) at cryogenic temperatures. For thin flakes (∼10 nm thick), a strong modulation of the critical temperature up to 1.5 K is observed, which monotonically decreases with increasing flake thickness. The effects of biaxial compressive strain remain significant even for relatively thick samples up to 80 nm thick, indicating efficient transfer of strain not only from the substrate to the flakes but also across several van der Waals layers. This work demonstrates that compressive strain induced from substrate thermal deformation can effectively tune phase transitions at low temperatures in 2D materials.

4.
Mov Disord ; 2024 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-38881224

RESUMO

BACKGROUND: Defects in GNAO1, the gene encoding the major neuronal G-protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes. OBJECTIVES: We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1-related disorders. METHODS: Patients were recruited in collaboration with the Spanish GNAO1 Association. For patient phenotyping, direct clinical evaluation, analysis of homemade-videos, and an online questionnaire completed by families were analyzed. We studied Gαo cellular expression, the interactions of the partner proteins, and binding to guanosine triphosphate (GTP) and G-protein-coupled receptors (GPCRs). RESULTS: Eighteen patients with GNAO1 genetic defects had a complex neurodevelopmental disorder, epilepsy, central hypotonia, and movement disorders. Eleven patients showed neurological deterioration, recurrent hyperkinetic crisis with partial recovery, and secondary complications leading to death in three cases. Deep brain stimulation improved hyperkinetic crisis, but had inconsistent benefits in dystonia. The molecular defects caused by pathogenic Gαo were aberrant GTP binding and hydrolysis activities, an inability to interact with cellular binding partners, and reduced coupling to GPCRs. Decreased localization of Gαo in the plasma membrane was correlated with the phenotype of "developmental and epileptic encephalopathy 17." We observed a genotype-phenotype correlation, pathogenic variants in position 203 were related to developmental and epileptic encephalopathy, whereas those in position 209 were related to neurodevelopmental disorder with involuntary movements. Milder phenotypes were associated with other molecular defects such as del.16q12.2q21 and I344del. CONCLUSION: We highlight the complexity of the motor phenotype, which is characterized by fluctuations throughout the day, and hyperkinetic crisis with a distinct post-hyperkinetic crisis state. We confirm a molecular-based genotype-phenotype correlation for specific variants. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

5.
Epilepsia ; 65(4): 1029-1045, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38135915

RESUMO

OBJECTIVE: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. METHODS: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. RESULTS: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike-wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype-phenotype relationship even between individuals with the same DLG4 variants. SIGNIFICANCE: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG.


Assuntos
Encefalopatias , Epilepsia Generalizada , Epilepsia , Deficiência Intelectual , Humanos , Estudos Retrospectivos , Hipotonia Muscular , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/complicações , Encefalopatias/genética , Convulsões/complicações , Epilepsia Generalizada/complicações , Eletroencefalografia/métodos , Deficiência Intelectual/genética , Deficiência Intelectual/complicações , Proteína 4 Homóloga a Disks-Large/genética
6.
Nanotechnology ; 35(48)2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39241783

RESUMO

Two-dimensional semiconducting materials such as MoS2have gained significant attention for potential applications in electronic components due to their reduced dimensionality and exceptional electrical and optoelectronic properties. However, when reporting the performance of such 2D-based devices, one needs to consider the effect of the environment in which the characterization is carried out. Air exposure has a non-negligible impact on the electronic performance and vacuum thermal annealing is an established method to decrease the effects of adsorbates. Nevertheless, when measurements are performed in ambient conditions these effects arise again. In this work, we study the changes in the electrical and optoelectronic properties of single-layer MoS2-based devices at air exposure after thermal annealing treatment. Measurements are carried out in anin-situvacuum thermal annealing system, enabling the recording of electrical performance degradation over time. Moreover, this work shows how hexagonal boron nitride (hBN) capping improves device performance, both in vacuum and after venting, as well as stability, by decreasing the degradation speed by around six times. The results suggest that vacuum thermal annealing and hBN capping are methods to mitigate the effects of air environment on these devices.

7.
Crit Care ; 28(1): 308, 2024 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-39289731

RESUMO

INTRODUCTION: Weaning patients from mechanical ventilation is crucial in the management of acute respiratory failure (ARF). Spontaneous breathing trials (SBT) are used to assess readiness for extubation, but extubation failure remains a challenge. Diaphragmatic function, measured by electrical activity of the diaphragm (EAdi), may provide insights into weaning outcomes. MATERIALS AND METHODS: This prospective, observational study included difficult-to-wean patients undergoing invasive mechanical ventilation. EAdi was recorded before, during, and after extubation. Patients were categorized into extubation success and failure groups based on reintubation within 48 h. Statistical analysis assessed EAdi patterns and predictive value. RESULTS: Thirty-one patients were analyzed, with six experiencing extubation failure. Overall, EAdi increased significantly between the phases before the SBT, the SBT and post-extubation period, up to 24 h (p < 0.001). EAdi values were higher in the extubation failure group during SBT (p = 0.01). An EAdi > 30 µV during SBT predicted extubation failure with 92% sensitivity and 67% specificity. Multivariable analysis confirmed EAdi as an independent predictor of extubation failure. CONCLUSIONS: In difficult-to-wean patients, EAdi increases significantly between the phases before the SBT, the SBT and post-extubation period and is significantly higher in patients experiencing extubation failure. An EAdi > 30 µV during SBT may enhance extubation failure prediction compared to conventional parameters. Advanced monitoring of diaphragmatic function could improve weaning outcomes in critical care settings.


Assuntos
Extubação , Diafragma , Desmame do Respirador , Humanos , Desmame do Respirador/métodos , Diafragma/fisiopatologia , Masculino , Feminino , Estudos Prospectivos , Pessoa de Meia-Idade , Idoso , Extubação/métodos , Extubação/estatística & dados numéricos , Fatores de Tempo , Respiração Artificial/métodos , Insuficiência Respiratória/terapia , Insuficiência Respiratória/fisiopatologia , Valor Preditivo dos Testes
8.
Artigo em Inglês | MEDLINE | ID: mdl-39257288

RESUMO

OBJECTIVES: Individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), often experience a higher prevalence of gastrointestinal (GI) symptoms but have complex medical and behavioral comorbidities that make diagnosis and treatment difficult. A multi-stakeholder conference was convened to (a) determine patient and family experiences related to GI symptoms in NDDs, (b) review the clinicians' and researchers' perspectives, and (c) determine actionable steps for future research. METHODS: The Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases (CANDID; www.candidgi.com) virtually over 2 days in 2022 and consisted of four key activities: (1) an electronic family survey to assess underlying NDDs and GI symptoms, (2) a session focused on family perspectives, (3) review current clinical care and research, and (4) discussion to identify key next steps. Survey results were obtained electronically via the REDCap platform, and descriptive statistics were generated. The sessions were recorded, and themes were identified. RESULTS: The pre-conference survey ran for ~2 months and 739 families provided responses, with 634 completing all items. 83% had a child with an NDD under age 18, and most patients were White (85%) and non-Hispanic (87%). Constipation (80%), gastrointestinal reflux disease (51%), and bloating (49%) were the most frequently reported symptoms. Families gave unstructured feedback that the measures used in the surveys were often difficult to answer for patients with NDDs or who were nonspeaking. Family and clinical/scientific sessions identified several common themes, including (1) the need for less invasive diagnostic modalities, (2) the need to validate or adapt existing diagnostic measures (e.g., the Rome IV criteria) and outcome assessments, and (3) the need for enhanced attention to parent and caregiver input in treatment plans. CONCLUSIONS: Those providing care to children with NDDs, especially those with communication and cognitive challenges, should be aware of the differing needs in this community and consider family perspectives in managing, treating, and measuring GI issues. Future research should focus on adapting or creating diagnostic and research measures for those with NDDs, developing new diagnostic methods to account for diversity in neurodevelopment and communication, and improving methods for family and caregiver engagement in the care of GI disorders.

9.
Prenat Diagn ; 2024 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-39304976

RESUMO

OBJECTIVE: To assess whether targeted magnetic resonance of one or both of the progenitors could refine the diagnosis in cases of fetal brain anomalies with uncertain prognosis. METHODS: Single-center retrospective case series, where targeted magnetic resonance was performed on one or both of progenitors after a suspicion of fetal complex brain anomalies, and prognosis was unclear based solely on fetal tests (neurosonogram, fetal magnetic resonance, and genetic testing). RESULTS: Seven women were included. Results were relevant for prenatal counseling in five cases, with a definitive diagnosis in three: one periventricular nodular heterotopia, one mild tubulinopathy, and one dynein-associated neurodevelopmental disorder. Median gestational age at referral was 28.3 weeks (range, 20.7-34.9). Neurosonogram findings were inconclusive in all cases. Exome sequencing in amniotic fluid was conducted for all cases. Fetal magnetic resonance was performed at a median gestational age of 34.4 weeks (range, 29.3-35.7), confirming ultrasound diagnosis in all cases, and providing substantial additional information in two (2/7, 28.6%). Parental magnetic resonance findings aligned with fetal findings in 5/7 cases (71.4%). CONCLUSION: DUO or TRIO magnetic resonance, involving both progenitors and the fetus, could play a significant role in prenatal diagnosis of selected brain anomalies with uncertain prognosis.

10.
Neurol Sci ; 45(3): 1007-1016, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37853291

RESUMO

BACKGROUND: Transition from child-centered to adult-centered healthcare is a gradual process that addresses the medical, psychological, and educational needs of young people in the management of their autonomy in making decisions about their health and their future clinical assistance. This transfer is challenging across all chronic diseases but can be particularly arduous in rare neurological conditions. AIM: To describe the current practice on the transition process for young patients in centers participating in the European Reference Network for Rare Neurological Diseases (ERN-RND). METHODS: Members of the ERN-RND working group developed a questionnaire considering child-to-adult transition issues and procedures in current clinical practice. The questionnaire included 20 questions and was sent to members of the health care providers (HCPs) participating in the network. RESULTS: Twenty ERN-RND members (75% adult neurologists; 25% pediatricians; 5% nurses or study coordinators) responded to the survey, representing 10 European countries. Transition usually occurs between 16 and 18 years of age, but 55% of pediatric HCPs continue to care for their patients until they reach 40 years of age or older. In 5/20 ERN-RND centers, a standardized procedure managing transition is currently adopted, whereas in the remaining centers, the transition from youth to adult service is usually assisted by pediatricians as part of their clinical practice. CONCLUSIONS: This survey demonstrated significant variations in clinical practice between different centers within the ERN-RND network. It provided valuable data on existing transition programs and highlighted key challenges in managing transitions for patients with rare neurological disorders.


Assuntos
Atenção à Saúde , Doenças do Sistema Nervoso , Adulto , Adolescente , Humanos , Criança , Inquéritos e Questionários , Europa (Continente) , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/terapia , Doenças Raras/diagnóstico , Doenças Raras/terapia
11.
Nano Lett ; 23(11): 4749-4755, 2023 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-37276177

RESUMO

Stacking monolayers of transition metal dichalcogenides (TMDs) has led to the discovery of a plethora of new exotic phenomena, resulting from moiré pattern formation. Due to the atomic thickness and high surface-to-volume ratio of heterostructures, the interfaces play a crucial role. Fluctuations in the interlayer distance affect interlayer coupling and moiré effects. Therefore, to access the intrinsic properties of the TMD stack, it is essential to obtain a clean and uniform interface between the layers. Here, we show that this is achieved by ironing with the tip of an atomic force microscope. This post-stacking procedure dramatically improves the homogeneity of the interfaces, which is reflected in the optical response of the interlayer exciton. We demonstrate that ironing improves the layer coupling, enhancing moiré effects and reducing disorder. This is crucial for the investigation of TMD heterostructure physics, which currently suffers from low reproducibility.

12.
BMC Microbiol ; 23(1): 101, 2023 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-37055748

RESUMO

BACKGROUND: The urinary tract harbors unique microbial communities that play important roles in urogenital health and disease. Dogs naturally suffer from several of the same urological disorders as humans (e.g., urinary tract infections, neoplasia, urolithiasis) and represent a valuable translational model for studying the role of urinary microbiota in various disease states. Urine collection technique represents a critical component of urinary microbiota research study design. However, the impact of collection method on the characterization of the canine urinary microbiota remains unknown. Therefore, the objective of this study was to determine whether urine collection technique alters the microbial populations detected in canine urine samples. Urine was collected from asymptomatic dogs by both cystocentesis and midstream voiding. Microbial DNA was isolated from each sample and submitted for amplicon sequencing of the V4 region of the bacterial 16 S rRNA gene, followed by analyses to compare microbial diversity and composition between urine collection techniques. RESULTS: Samples collected via midstream voiding exhibited significantly higher sequence read counts (P = .036) and observed richness (P = .0024) than cystocentesis urine. Bray Curtis and Unweighted UniFrac measures of beta diversity showed distinct differences in microbial composition by collection method (P = .0050, R2 = 0.06 and P = .010, R2 = 0.07, respectively). Seven taxa were identified as differentially abundant between groups. Pasteurellaceae, Haemophilus, Friedmanniella, two variants of Streptococcus, and Fusobacterium were over-represented in voided urine, while a greater abundance of Burkholderia-Caballeronia-Paraburkholderia characterized cystocentesis samples. Analyses were performed at five thresholds for minimum sequence depth and using three data normalization strategies to validate results; patterns of alpha and beta diversity remained consistent regardless of minimum read count requirements or normalization method. CONCLUSION: Microbial composition differs in canine urine samples collected via cystocentesis as compared to those collected via midstream voiding. Future researchers should select a single urine collection method based on the biological question of interest when designing canine urinary microbiota studies. Additionally, the authors suggest caution when interpreting results across studies that did not utilize identical urine collection methods.


Assuntos
Microbiota , Infecções Urinárias , Sistema Urinário , Humanos , Cães , Animais , Coleta de Urina/métodos , Estudos Transversais , Sistema Urinário/microbiologia , Infecções Urinárias/diagnóstico , Infecções Urinárias/veterinária , Infecções Urinárias/microbiologia
13.
Am J Med Genet A ; 191(8): 2015-2044, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37392087

RESUMO

Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and large-scale genotype-phenotype investigations. The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide guidance for clinicians, researchers, and the general community. A taskforce was established with clinical experts in PMS and representatives from the parent community. Experts joined subgroups based on their areas of specialty, including genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, nephrology, endocrinology, cardiology, gynecology, and dentistry. Taskforce members convened regularly between 2021 and 2022 and produced specialty-specific guidelines based on iterative feedback and discussion. Taskforce leaders then established consensus within their respective specialty group and harmonized the guidelines. The knowledge gained over the past decade allows for improved guidelines to assess and monitor individuals with PMS. Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental disorders. Significant evidence has been amassed to guide the management of comorbid neuropsychiatric conditions in PMS, albeit mainly from caregiver report and the experience of clinical experts. These updated consensus guidelines on the management of PMS represent an advance for the field and will improve care in the community. Several areas for future research are also highlighted and will contribute to subsequent updates with more refined and specific recommendations as new knowledge accumulates.


Assuntos
Transtornos Cromossômicos , Humanos , Fenótipo , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Deleção Cromossômica , Proteínas do Tecido Nervoso/genética , Cromossomos Humanos Par 22/genética
14.
Semin Neurol ; 43(4): 645-660, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37586397

RESUMO

Gastrointestinal symptoms are common in most forms of neurodevelopment disorders (NDDs) such as in autism spectrum disorders (ASD). The current patient-reported outcome measures with validated questionnaires used in the general population of children without NDDS cannot be used in the autistic individuals. We explore here the multifactorial pathophysiology of ASD and the role of genetics and the environment in this disease spectrum and focus instead on possible diagnostics that could provide future objective insight into the connection of the gut-brain-microbiome in this disease entity. We provide our own data from both humans and a zebrafish model of ASD called Phelan-McDermid Syndrome. We hope that this review highlights the gaps in our current knowledge on many of these profound NDDs and that it provides a future framework upon which clinicians and researchers can build and network with other interested multidisciplinary specialties.


Assuntos
Transtorno do Espectro Autista , Transtornos Cromossômicos , Gastroenteropatias , Transtornos do Neurodesenvolvimento , Criança , Animais , Humanos , Peixe-Zebra , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Gastroenteropatias/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/genética
15.
Nano Lett ; 22(18): 7457-7466, 2022 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-36108061

RESUMO

We demonstrate the fabrication of field-effect transistors based on single-layer MoS2 and a thin layer of BaTiO3 (BTO) dielectric, isolated from its parent epitaxial template substrate. Thin BTO provides an ultrahigh-κ gate dielectric effectively screening Coulomb scattering centers. These devices show mobilities substantially larger than those obtained with standard SiO2 dielectrics and comparable with values obtained with hexagonal boron nitride, a dielectric employed for fabrication of high-performance two-dimensional (2D) based devices. Moreover, the ferroelectric character of BTO induces a robust hysteresis of the current vs gate voltage characteristics, attributed to its polarization switching. This hysteresis is strongly suppressed when the device is warmed up above the tetragonal-to-cubic transition temperature of BTO that leads to a ferroelectric-to-paraelectric transition. This hysteretic behavior is attractive for applications in memory storage devices. Our results open the door to the integration of a large family of complex oxides exhibiting strongly correlated physics in 2D-based devices.

16.
J Aquat Anim Health ; 35(2): 101-116, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-37243331

RESUMO

OBJECTIVE: Prolonged exposure to heavy metals, such as Pb, Hg, or Cu, has multiple adverse effects on marine organisms at the cellular, physiological, and population levels. Bivalves' histopathology provides a sensitive biomarker of pollutant-induced stress and environmental health. Gonad tissue deterioration is of particular concern, as it affects the reproductive success of a species. This study aimed to examine the histopathological alterations caused by metal exposure in the gonad of the white clam Dosinia ponderosa. METHODS: Organisms were sampled from three locations in the Gulf of California: Santa Rosalia (SR), a former Cu mining town; San Lucas beach (SL), a nearby site influenced by pollution; and Escondida beach (EB), which served as a control site. Histological and histochemical stains were used, and the prevalence and intensity level of each alteration were calculated. RESULT: The prevalence of alterations was higher in the ovaries of SR clams (92% compared to 60% in SL clams and 32.7% in EB clams), during spawning (91.4% compared to 20% in SL clams and 4.7% in EB clams), and in winter (93.5% compared to 30% in SL clams and 17.4% in EB clams). CONCLUSION: These findings suggest a significant deterioration in the gonads of white clams from SR, probably linked to the chronic exposure to high concentrations of Cu and possibly other heavy metals; hence, the reproductive health of the clams is likely compromised.


Assuntos
Bivalves , Metais Pesados , Poluentes Químicos da Água , Feminino , Animais , Cobre/toxicidade , Metais Pesados/toxicidade , Bivalves/química , Gônadas/química , Ovário , Poluentes Químicos da Água/toxicidade , Poluentes Químicos da Água/análise , Monitoramento Ambiental
17.
Environ Geochem Health ; 45(5): 2329-2348, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-35953735

RESUMO

The coastal lagoons of the Gulf of California support important traditional fisheries and mollusc cultures (generally oysters) and receive important volumes of agricultural, industrial and urban effluents, consumption of the oysters could pose risk to human health. The concentrations of arsenic (As), cadmium (Cd), copper (Cu), iron (Fe), lead (Pb), and zinc (Zn) in the oysters Saccostrea palmula and Crassostrea corteziensis, from four coastal lagoons (Altata, AL; Macapule, ML; Navachiste, NL; El Colorado, ECL) in the Southeast Gulf of California, were seasonally evaluated (summer 2019-spring 2020). The order of magnitude of potentially toxic elements concentrations in the soft tissue in both oyster species and at all sites was Zn > Fe > Cu > As > Cd > Pb. Cadmium, Cu, Pb, and Zn exceeded the maximum permissible limits in more than one sampling site. The highest concentrations (mg kg-1, wet weight) of As (4.2 ± 1.1, spring) and Cd (3.3 ± 0.7, autumn) were registered in S. palmula et al. and NL sampling sites, respectively. Crassostrea corteziensis presented higher levels of Cu (40.5 ± 6.7, spring), Pb (2.0 ± 0.4, spring), and Zn (96.9 ± 20.4, spring) in ECL and Fe (62.2 ± 25.4, autumn) in ML. The hazard quotient (HQ) values exceeded the safe level of 1 for Cd in S. palmula and C. corteziensis in NL for children (~ 16 kg weight). In addition, in children, the hazard index (HI) values in both species of oysters ranged from 0.7 to 2.1 and 0.6 to 1.9, respectively. On the other hand, the intake of the studied elements through the consumption of oysters would not induce adverse effects to human health (men and women weighing 70 and 60 kg, respectively); HQ and HI values were < 1.


Assuntos
Arsênio , Crassostrea , Metais Pesados , Poluentes Químicos da Água , Animais , Criança , Feminino , Humanos , Cádmio/toxicidade , Monitoramento Biológico , México , Chumbo , Monitoramento Ambiental , Medição de Risco , Poluentes Químicos da Água/toxicidade , Poluentes Químicos da Água/análise , Metais Pesados/toxicidade , Metais Pesados/análise
18.
Bull Environ Contam Toxicol ; 111(2): 20, 2023 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-37530948

RESUMO

Total mercury (Hg) and selenium (Se) contents were determined in oysters Saccostrea palmula and Crassostrea corteziensis soft tissues from four coastal lagoons of the southeastern Gulf of California. The annual Hg mean concentrations for S. palmula (0.09 ± 0.04 µg g- 1, wet weight) and C. corteziensis (0.08 ± 0.04 µg g- 1) were similar (p ˃ 0.05) among the lagoons and did not exceed the limit established by the Norma Oficial Mexicana and World Health Organization (< 1.0 µg g- 1 Hg). On the other hand, the annual mean concentrations of Se for S. palmula (3.34 ± 0.96 µg g- 1) and C. corteziensis (2.79 ± 0.89 µg g- 1) were higher (p < 0.05) in El Colorado lagoon. The Se/Hg molar ratios were above 1; the positive selenium health benefit value index suggested that Se load in oysters could reduce the Hg potential toxic effect. The hazard quotient for Hg in both species was below 1. Therefore, the consumption of oysters does not represent a risk due to Hg ingestion.


Assuntos
Crassostrea , Mercúrio , Selênio , Poluentes Químicos da Água , Animais , Humanos , Mercúrio/toxicidade , Monitoramento Ambiental , Poluentes Químicos da Água/toxicidade , Poluentes Químicos da Água/análise , Medição de Risco
19.
Zoo Biol ; 42(5): 644-650, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37218303

RESUMO

Few studies have addressed the nutritional ecology of galagos. Observations of galagos in the wild reveal that they rely on fruits and invertebrates to varying degrees depending on their availability. We conducted a 6-week comparative dietary analysis of a colony of captive-housed northern greater galagos (Otolemur garnettii), which included five females and six males with known life histories. We compared two experimental diets. The first was fruit dominated and the second was invertebrate dominated. For each diet, we examined dietary intake and apparent dry matter digestibility over the course of 6 weeks. We found significant differences between the apparent digestibility of the diets, with the "invertebrate" diet being more digestible than the "frugivorous" diet. The lower apparent digestibility of the "frugivorous" diet was driven by the higher fiber contents of the fruits provided to the colony. However, variation in apparent digestibility of both diets was found among individual galagos. The experimental design used in this study may provide useful dietary data for the management of captive colonies of galagos and other strepsirrhine primates. This study may also be helpful for understanding the nutritional challenges faced by free-ranging galagos through time and across geographic space.


Assuntos
Galagidae , Galago , Masculino , Feminino , Animais , Animais de Zoológico , Dieta/veterinária , Invertebrados , Digestão , Ração Animal/análise , Fibras na Dieta , Fenômenos Fisiológicos da Nutrição Animal
20.
Mol Ecol ; 31(15): 4127-4145, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35661299

RESUMO

Western lowland gorillas (Gorilla gorilla gorilla) are Critically Endangered and show continued population decline. Consequently, pressure is mounting to better understand their conservation threats and ecology. Gastrointestinal symbionts, such as bacterial and eukaryotic communities, are believed to play vital roles in the physiological landscape of the host. Gorillas host a broad spectrum of eucaryotes, so called parasites, with strongylid nematodes being particularly prevalent. While these communities are partially consistent, they are also shaped by various ecological factors, such as diet or habitat type. To investigate gastrointestinal symbionts of wild western lowland gorillas, we analysed 215 faecal samples from individuals in five distinct localities across the Congo Basin, using high-throughput sequencing techniques. We describe the gut bacterial microbiome and genetic diversity of strongylid communities, including strain-level identification of amplicon sequence variants (ASVs). We identified strongylid ASVs from eight genera and bacterial ASVs from 20 phyla. We compared these communities across localities, with reference to varying environmental factors among populations, finding differences in alpha diversity and community compositions of both gastrointestinal components. Moreover, we also investigated covariation between strongylid nematodes and the bacterial microbiome, finding correlations between strongylid taxa and Prevotellaceae and Rikenellaceae ASVs that were consistent across multiple localities. Our research highlights the complexity of the bacterial microbiome and strongylid communities in several gorilla populations and emphasizes potential interactions between these two symbiont communities. This study provides a framework for ongoing research into strongylid nematode diversity, and their interactions with the bacterial microbiome, among great apes.


Assuntos
Microbioma Gastrointestinal , Microbiota , Animais , Bactérias/genética , Bacteroidetes , Fezes/microbiologia , Microbioma Gastrointestinal/genética , Gorilla gorilla/genética , Humanos
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