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1.
J Neurointerv Surg ; 2024 Mar 07.
Article in English | MEDLINE | ID: mdl-38453462

ABSTRACT

BACKGROUND: Accurate prediction of functional outcomes is crucial in stroke management, but this remains challenging. OBJECTIVE: To evaluate the performance of the generative language model ChatGPT in predicting the functional outcome of patients with acute ischemic stroke (AIS) 3 months after mechanical thrombectomy (MT) in order to assess whether ChatGPT can used to be accurately predict the modified Rankin Scale (mRS) score at 3 months post-thrombectomy. METHODS: We conducted a retrospective analysis of clinical, neuroimaging, and procedure-related data from 163 patients with AIS undergoing MT. The agreement between ChatGPT's exact and dichotomized predictions and actual mRS scores was assessed using Cohen's κ. The added value of ChatGPT was measured by evaluating the agreement of predicted dichotomized outcomes using an existing validated score, the MT-DRAGON. RESULTS: ChatGPT demonstrated fair (κ=0.354, 95% CI 0.260 to 0.448) and good (κ=0.727, 95% CI 0.620 to 0.833) agreement with the true exact and dichotomized mRS scores at 3 months, respectively, outperforming MT-DRAGON in overall and subgroup predictions. ChatGPT agreement was higher for patients with shorter last-time-seen-well-to-door delay, distal occlusions, and better modified Thrombolysis in Cerebral Infarction scores. CONCLUSIONS: ChatGPT adequately predicted short-term functional outcomes in post-thrombectomy patients with AIS and was better than the existing risk score. Integrating AI models into clinical practice holds promise for patient care, yet refining these models is crucial for enhanced accuracy in stroke management.

2.
Clin Neurol Neurosurg ; 236: 108090, 2024 01.
Article in English | MEDLINE | ID: mdl-38160657

ABSTRACT

BACKGROUND: We aimed to assess the usefulness of the falx cerebri and the corpus callosum measurements as imaging markers of the evaluation of patients with bilateral subdural hematomas. METHODS: The anterior-posterior and craniocaudal distances between the falx cerebri (FC) and the corpus callosum (CC) were retrospectively measured in 88 head CT scans from 2018 to 2022 from patients with bilateral subdural hematomas and associated with quantitative data and clinical outcomes. Statistical analysis was performed using multivariate regression and receiver operating characteristic curves. RESULTS: Of the 88 patients included, 77.3% were male and the median age of 76.0 years (interquartile range 14.0). The mean craniocaudal and anterior-posterior FC-CC distances were 27.6 ± 6.2 mm and 25.1 ± 6.9 mm, respectively, and showed a positive correlation with hematoma thickness and volume. Both anterior-posterior and craniocaudal FC-CC distances exhibited moderate to good inter-rater reliability. After adjusting for confounders, the craniocaudal FC-CC distance was associated with an increased risk of altered consciousness at admission (OR=1.013; 95% CI 1.001-1.024; p = 0.031), downward displacement of the third ventricle (OR=1.019; 95% CI 1.001-1.038; p = 0.035), and a reduced time to surgery (ß = 0.057; 95% CI 0.007-0.107; p = 0.027). CONCLUSION: This study emphasizes that increased FC-CC distances in patients with bilateral subdural hematomas may aid clinical decision-making and are associated with larger hematoma volumes, evidence of descending transtentorial herniation on imaging, and a heightened risk of altered consciousness at admission.


Subject(s)
Corpus Callosum , Hematoma, Subdural , Humans , Male , Aged , Female , Corpus Callosum/diagnostic imaging , Retrospective Studies , Reproducibility of Results , Hematoma, Subdural/diagnostic imaging , Hematoma, Subdural/surgery , Hematoma, Subdural/etiology , Patient Acuity , Dura Mater/surgery
3.
J Clin Neurosci ; 115: 33-37, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37480730

ABSTRACT

BACKGROUND: Perihematomal edema (PHE) is a marker of secondary brain injury in patients with intracerebral hemorrhage (ICH) and is associated with increased inflammatory markers and neurological disability. This study aims to assess the effect of the neutrophile-to-lymphocyte ratio (NLR) and systemic inflammatory response syndrome (SIRS) on PHE measurements and functional status in patients with ICH. METHODS: We included 215 patients with primary ICH and the primary outcomes were absolute and relative PHE, and edema extension distance (EED). A favorable functional outcome was defined as a modified Rankin Scale (mRS) score 0-2 measured 3 months after ICH. RESULTS: Median age was 73.0 years (interquartile range 66-80) and 54.4% patients were males. Fifty-nine patients were functionally independent at 90 days (mRS 0 to 2). NLR and SIRS were not predictors of absolute, relative PHE, and EED when adjusted for multiple confounders. However, admission NLR was independently associated with an unfavorable functional outcome at 90 days (aOR = 0.38; 95% CI 0.17-0.87; p = 0.021). CONCLUSIONS: NLR and SIRS are not independent predictors of absolute and relative PHE measurements following ICH. Nevertheless, NLR predicts long-term disability in ICH patients. Further research is needed to understand the mechanisms by which inflammation causes neurological injury in ICH.


Subject(s)
Cerebral Hemorrhage , Neutrophils , Male , Humans , Aged , Female , Cerebral Hemorrhage/complications , Edema , Lymphocytes , Systemic Inflammatory Response Syndrome/complications
4.
Exp Physiol ; 108(1): 103-110, 2023 01.
Article in English | MEDLINE | ID: mdl-36404590

ABSTRACT

NEW FINDINGS: What is the central question of this study? How are dynamic cerebral autoregulation and brain vasoreactivity influenced by severe aortic stenosis and its surgical treatment? What are the main findings and their importance? Dynamic cerebral autoregulation is preserved in the long term in patients with severe aortic stenosis and does not change after surgical aortic valve replacement. However, carbon dioxide vasoreactivity is impaired in these patients. ABSTRACT: Surgical aortic valve replacement (SAVR) alters the natural course of severe aortic stenosis (AS). In this study, we aimed to determine the effects of the disease on dynamic cerebral autoregulation and vasoreactivity (VR) and to assess their changes after SAVR. We recruited 23 patients diagnosed with severe AS eligible for SAVR and 15 healthy matched controls. AS patients had lower mean VR to CO2 (P = 0.005) than controls, but dynamic cerebral autoregulation was preserved. Cerebral haemodynamics showed no significant change after SAVR. Patients with smaller baseline aortic valve areas presented with smaller low frequency phase changes after surgery (P = 0.016). Severe AS does not seem to impact dynamic cerebral autoregulation but does reduce VR to CO2 . SAVR does not alter cerebral autoregulation nor vasoreactivity.


Subject(s)
Aortic Valve Stenosis , Heart Valve Prosthesis Implantation , Humans , Aortic Valve/surgery , Prospective Studies , Aortic Valve Stenosis/surgery , Aortic Valve Stenosis/diagnosis , Carbon Dioxide , Treatment Outcome , Risk Factors
5.
Nucleic Acids Res ; 51(D1): D785-D791, 2023 01 06.
Article in English | MEDLINE | ID: mdl-36350610

ABSTRACT

YEASTRACT+ (http://yeastract-plus.org/) is a tool for the analysis, prediction and modelling of transcription regulatory data at the gene and genomic levels in yeasts. It incorporates three integrated databases: YEASTRACT (http://yeastract-plus.org/yeastract/), PathoYeastract (http://yeastract-plus.org/pathoyeastract/) and NCYeastract (http://yeastract-plus.org/ncyeastract/), focused on Saccharomyces cerevisiae, pathogenic yeasts of the Candida genus, and non-conventional yeasts of biotechnological relevance. In this release, YEASTRACT+ offers upgraded information on transcription regulation for the ten previously incorporated yeast species, while extending the database to another pathogenic yeast, Candida auris. Since the last release of YEASTRACT+ (January 2020), a fourth database has been integrated. CommunityYeastract (http://yeastract-plus.org/community/) offers a platform for the creation, use, and future update of YEASTRACT-like databases for any yeast of the users' choice. CommunityYeastract currently provides information for two Saccharomyces boulardii strains, Rhodotorula toruloides NP11 oleaginous yeast, and Schizosaccharomyces pombe 972h-. In addition, YEASTRACT+ portal currently gathers 304 547 documented regulatory associations between transcription factors (TF) and target genes and 480 DNA binding sites, considering 2771 TFs from 11 yeast species. A new set of tools, currently implemented for S. cerevisiae and C. albicans, is further offered, combining regulatory information with genome-scale metabolic models to provide predictions on the most promising transcription factors to be exploited in cell factory optimisation or to be used as novel drug targets. The expansion of these new tools to the remaining YEASTRACT+ species is ongoing.


Subject(s)
Software , Transcription, Genetic , Yeasts , Databases, Genetic , Gene Expression Regulation, Fungal , Gene Regulatory Networks , Saccharomyces cerevisiae/genetics , Saccharomyces cerevisiae/metabolism , Transcription Factors/genetics , Transcription Factors/metabolism , Yeasts/genetics
6.
Environ Int ; 166: 107345, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35717713

ABSTRACT

Whole mixture-based testing using in vitro new approach methodologies (NAMs) has been suggested to facilitate the hazard and risk assessment of complex environmental mixtures. Previous studies have shown that phosphorylation of DNA damage signaling proteins checkpoint kinase 1 (pChk1) and histone 2AX (γH2AX) are sensitive markers that can be used for estimating carcinogenicity potencies in vitro. Here, and with the aim to better validate the applicability, in vitro-based Mixture Potency Factors (MPFs) of Standard Reference Materials (SRMs) from environmental polycyclic aromatic hydrocarbon (PAH)-containing mixtures were determined and compared to published mutagenicity and tumorigenicity data. Also, genotoxicity was assessed by a flow cytometry-based micronucleus (MN) assay which showed that only benzo[a]pyrene (B[a]P) and coal tar SRM (SRM1597a) caused dose-dependent increases of MN formation, while extracts of diesel particulate matter (SRM1650b), diesel particulate extract (SRM1975), and urban dust (SRM1649b) did not. However, a dose-dependent activation of DNA damage signaling was observed for all PAHs and SRMs. The results demonstrated that all SRMs were more potent than B[a]P, at B[a]P-equivalent concentrations, to induce pChk1 and γH2AX, and that western blot was more sensitive than the In-Cell Western assay in detecting their activation in response to these complex mixtures. Relative MPFs, based on dose-response modelling of pChk1 and γH2AX, ranged 113 - 5270 for the SRMs, indicating several orders of magnitude higher genotoxic potential than B[a]P. Moreover, these MPFs were in good agreement with potency values based on published data from Salmonella mutagenicity and in vivo carcinogenicity studies. In conclusion, these comparisons further validate the feasibility of applying in vitro NAMs, such as whole-mixture based MPFs, in cancer risk assessment of complex mixtures.

7.
Percept Mot Skills ; 128(5): 2237-2254, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34120520

ABSTRACT

In this study we assessed the contribution of augmented probabilistic information on the motor behavior of novice defenders during 1 vs. 1 basketball play. More specifically, we aimed to investigate the influence of different probabilities of attacks to the basket (Level 1: High-probability of a single attack action; Level 2: Equal probability of two attack actions; Level 3: No-probability of an attack) on defensive reactions and their efficacy. Twenty-six novice participants volunteered and were assigned into three groups, based on their reaction time performance. Each participant performed 10 trials defending against typical basket attacks on a standard basketball court. Three experimental groups were primed regarding the probabilities of two forms of attack, either shooting at the basket or dribbling-past the defender (Group 1: 80% vs 20%; Group 2: 50% vs 50%; Group 3: No-probability of attack). Participants reacted earlier and with greater accuracy in the high-probability condition (80% vs 20%), than in the remaining conditions. We found that, in absence of kinematic information about their opponents, novice basketball players may have relied on the prior information we provided regarding an opponents' preferred actions during 1 vs. 1 basketball play. The provision of probabilistic information could be used as a training strategy to guide the defensive motor behaviors of novice basketball players when facing their counterparts in ball possession by favoring the use of anticipatory information to react earlier and successfully to the opponents' actions.


Subject(s)
Basketball , Biomechanical Phenomena , Cognition , Humans , Reaction Time
9.
Trends Cogn Sci ; 25(6): 462-474, 2021 06.
Article in English | MEDLINE | ID: mdl-33810982

ABSTRACT

Domesticated and vocal learning species can serve as informative model organisms for the reduction of reactive aggression and emergence of speech in our lineage. Amidst mounting evidence that domestication modifies vocal repertoires across different species, we focus on the domesticated Bengalese finch, which has a more complex song than the wild-type white-rumped munia. Our explanation for this effect revolves around the glutamate neurotransmitter system. Glutamate signaling (i) is implicated in birdsong learning, (ii) controls dopamine activity in neural circuits crucial for vocal learning, (iii) is disproportionately targeted in the evolution of domesticates, and (iv) regulates stress responses and aggressive behaviors attenuated under domestication. We propose that attenuated excitation of stress-related neural circuits potentiates vocal learning via altered dopaminergic signaling.


Subject(s)
Domestication , Finches , Aggression , Animals , Humans , Learning , Vocalization, Animal
10.
Acta Med Port ; 34(12): 868-873, 2021 Dec 02.
Article in English | MEDLINE | ID: mdl-32991276

ABSTRACT

INTRODUCTION: Endosalpingiosis is a rare benign condition characterized by the presence of tubal epithelium outside the Fallopian tube. The clinical presentation of endosalpingiosis is nonspecific, and the diagnosis is typically incidental in women undergoing surgery for pelvic pain, infertility, urinary symptoms, or a pelvic mass. It can only be confirmed with histopathological examination. CASE REPORT: We report the first case of uterine florid cystic endosalpingiosis, with unusual hysteroscopic findings. We reviewed all the published cases of uterine florid cystic endosalpingiosis and their clinical presentation including hysteroscopic characteristics. It is a rare benign condition, with only 32 cases described in the literature. This is the first hysteroscopic description of this condition to be made. DISCUSSION: The patient first underwent a hysteroscopy and a leiomyoma resection when she was 51 years old. At 55, she went through another hysteroscopy, and a polypoid lesion was excised. A third hysteroscopy, one year later, revealed a new polypoid lesion in a similar location. After the initial incisions, this polypoid lesion disappeared. By decreasing the intrauterine pressure, it became visible again, corresponding histologically to an endometrial polyp with tubal metaplasia. At last, she underwent a laparoscopic hysterectomy with a final histopathological diagnosis of uterine florid cystic endosalpingiosis. CONCLUSION: Florid cystic endosalpingiosis is a rare condition that may be associated with several bizarre hysteroscopic findings.


Introdução: A endossalpingiose é uma condição benigna rara caracterizada pela presença de epitélio tubário fora da trompa de Falópio. A apresentação clínica da endossalpingiose é inespecífica e o diagnóstico é geralmente incidental em mulheres submetidas a cirurgia por dor pélvica, infertilidade, sintomas urinários ou massa pélvica. O diagnostico só pode ser confirmado com exame histopatológico. Caso Clínico: Relatamos o primeiro caso de endosalpingiose cística florida uterina, no qual se encontrou achados histeroscópicos incomuns. Foram revistos todos os casos publicados de endosalpingiose cística florida uterina e suas apresentações clínicas, incluindo características histeroscópicas. Trata-se de uma condição benigna rara, com apenas 32 casos descritos na literatura. Apresentamos a primeira descrição histeroscópica desta patologia. Discussão: A doente foi submetida a uma primeira histeroscopia e resseção de leiomioma aos 51 anos de idade. Com 55, realizou uma nova histeroscopia e removeu uma lesão polipóide. Uma terceira histeroscopia, um ano depois, revelou uma nova lesão polipóide num local semelhante. Após as incisões iniciais, essa lesão polipóide desapareceu. Ao diminuir a pressão intrauterina, tornou-se visível novamente, correspondendo histologicamente a um pólipo endometrial com metaplasia tubária. A doente foi submetida a uma histerectomia laparoscópica com diagnóstico histopatológico final de endosalpingiose cística florida uterina. Foram revistos todos os casos publicados de endosalpingiose cística florida uterina e suas apresentações clínicas, incluindo características histeroscópicas. Conclusão: A endosalpingiose cística florida uterina é uma condição rara que pode estar associada a achados histeroscópicos bizarros.


Subject(s)
Cysts , Fallopian Tube Diseases , Uterine Neoplasms , Cysts/diagnostic imaging , Cysts/surgery , Diagnosis, Differential , Fallopian Tube Diseases/diagnosis , Fallopian Tubes , Female , Humans , Hysteroscopy , Middle Aged , Pregnancy , Uterine Neoplasms/diagnosis
11.
Acta Med Port ; 34(1): 6-11, 2021 Jan 04.
Article in English | MEDLINE | ID: mdl-32716283

ABSTRACT

INTRODUCTION: Non-motor symptoms are underrecognized features of Parkinson's disease that impair quality of life and increase mortality. In this study, we aim to translate, adapt and validate the European Portuguese version of the "Non-Motor Symptoms Questionnaire", which has proven to be a valid and reliable measurement tool of non-motor symptoms in other languages. MATERIAL AND METHODS: Acceptability was evaluated regarding the range of values, ceiling and floor effects. Reliability was measured in terms of internal consistency (Cronbach's alpha) and reproducibility (intra-class correlation coefficient). For criterion validity analysis, Movement Disorders Society - Unified Parkinson's Disease Part I domains' scores were compared to those of the "Non-Motor Symptoms Questionnaire". For convergent validity, correlations between the "Non-Motor Symptoms Questionnaire" and the Movement Disorders Society - Unified Parkinson's Disease Part III, Mini-Mental State Examination score, disease duration, and severity were obtained. RESULTS: Seventy nine Parkinson's disease patients were recruited, with a mean age of 67.2 ± 10.7 years and a disease duration of 10.8 ± 8.8 years. The European Portuguese version of the "Non-Motor Symptoms Questionnaire" total score was free of significant ceiling and floor effects. With the exception of the cardiovascular domain, adequate overall internal consistency was achieved. The questionnaire domains and the corresponding Movement Disorders Society - Unified Parkinson's Disease Part I dimensions were significantly correlated, although the total questionnaire score was modestly correlated with disease duration and severity, motor and non-motor symptoms severity and cognitive dysfunction. DISCUSSION: This is the first study to translate, adapt and validate a widely used screening instrument of non-motor symptoms of European Portuguese speaking Parkinson's disease patients. CONCLUSION: The European Portuguese version of "Non-Motor Symptoms Questionnaire" is a valid and reliable tool for screening nonmotor symptoms in patients with Parkinson's disease.


Subject(s)
Parkinson Disease/diagnosis , Surveys and Questionnaires/standards , Aged , Humans , Language , Middle Aged , Neurologic Examination , Portugal , Psychometrics , Quality of Life , Reproducibility of Results
12.
PLoS One ; 15(12): e0243842, 2020.
Article in English | MEDLINE | ID: mdl-33320884

ABSTRACT

Activation of the aryl hydrocarbon receptor (AHR) by the environmental toxin dioxin (2,3,7,8-tetrachlorodibenzo-p-dioxin, TCDD) causes diverse toxicities, including thymus atrophy and hepatosteatosis. The mechanisms by which AHR activation by TCDD leads to these toxicities are not fully understood. Here we studied the effects of TCDD on a major energy pathway, glycolysis, using the chick embryo close to hatching, a well-established model for studying dioxin toxicity. We showed that 24 hr of TCDD treatment causes changes in glycolysis in both thymus and liver. In thymus glands, TCDD decreased mRNAs for glycolytic genes and glucose transporters, glycolytic indices and levels of IL7 mRNA, phosphorylated AKT (pAKT) and HIF1A, stimulators of glycolysis and promoters of survival and proliferation of thymic lymphocytes. In contrast, in liver, TCDD increased mRNA levels for glycolytic genes and glucose transporters, glycolytic endpoints and pAKT levels. Similarly, increases by TCDD in mRNA levels for glycolytic genes and glucose transporters in human primary hepatocytes showed that effects in chick embryo liver pertain also to human cells. Treatment with the glycolytic inhibitor 2-deoxy-d-glucose exacerbated the effects on thymus atrophy by TCDD, supporting a role for decreased glycolysis in thymus atrophy by TCDD, but did not prevent hepatosteatosis. NAD+ precursors abolished TCDD effects on glycolytic endpoints in both thymus and liver. In summary, we report here that dioxin disrupts glycolysis mediated energy metabolism in both thymus and liver, and that it does so in opposite ways, decreasing it in the thymus and increasing it in the liver. Further, the findings support NAD+ boosting as a strategy against metabolic effects of environmental pollutants such as dioxins.


Subject(s)
Dioxins/toxicity , Glycolysis/drug effects , Organ Specificity/drug effects , Receptors, Aryl Hydrocarbon/metabolism , Adult , Animals , Cells, Cultured , Chick Embryo , Female , Gene Expression Regulation/drug effects , Glucose/metabolism , Glycolysis/genetics , Humans , Liver/drug effects , Liver/metabolism , Membrane Transport Proteins/genetics , Membrane Transport Proteins/metabolism , Niacinamide/analogs & derivatives , Niacinamide/metabolism , Polychlorinated Dibenzodioxins/toxicity , Pyridinium Compounds , RNA, Messenger/genetics , RNA, Messenger/metabolism , Thymus Gland/drug effects , Thymus Gland/embryology , Thymus Gland/metabolism
13.
Phys Rev E ; 101(5-1): 053311, 2020 May.
Article in English | MEDLINE | ID: mdl-32575242

ABSTRACT

Full-waveform inversion (FWI) is a wave-equation-based methodology to estimate the subsurface physical parameters that honor the geologic structures. Classically, FWI is formulated as a local optimization problem, in which the misfit function, to be minimized, is based on the least-squares distance between the observed data and the modeled data (residuals or errors). From a probabilistic maximum-likelihood viewpoint, the minimization of the least-squares distance assumes a Gaussian distribution for the residuals, which obeys Gauss's error law. However, in real situations, the error is seldom Gaussian and therefore it is necessary to explore alternative misfit functions based on non-Gaussian error laws. In this way, starting from the κ-generalized exponential function, we propose a misfit function based on the κ-generalized Gaussian probability distribution, associated with the Kaniadakis statistics (or κ-statistics), which we call κ-FWI. In this study, we perform numerical simulations on a realistic acoustic velocity model, considering two noisy data scenarios. In the first one, we considered Gaussian noisy data, while in the second one, we considered realistic noisy data with outliers. The results show that the κ-FWI outperforms the least-squares FWI, providing better parameter estimation of the subsurface, especially in situations where the seismic data are very noisy and with outliers, independently of the κ-parameter. Although the κ-parameter does not affect the quality of the results, it is important for the fast convergence of FWI.

15.
Neurologist ; 25(3): 55-61, 2020 May.
Article in English | MEDLINE | ID: mdl-32358462

ABSTRACT

BACKGROUND: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is used in the treatment of advanced Parkinson's disease (PD) with well-established benefits over motor complications. However, few studies addressing the impact of DBS on nonmotor dimensions such as sexual function have been conducted. This study aims to determine the effect of DBS-STN on the sexual activity of patients with PD and to establish predictive factors for sexual function decline after surgery. MATERIALS AND METHODS: Twenty-one patients with PD submitted to DBS-STN were compared with 19 eligible surgery candidates. Clinical measures included disease progression (Hoehn and Yahr scale), sexual function evaluation (Female Sexual Function Index and International Index of Erectile Function), severity of depressive symptoms (Beck Depressive Inventory-II), motor symptoms (Movement Disorders Society-Unified Parkinson's Disease Rating Scale Part III), and quality of life (39-item Parkinson's Disease Questionnaire). The primary outcomes were the development of sexual dysfunction in women and erectile dysfunction in men. Regression analysis was performed to outline risk factors for developing sexual function deterioration. RESULTS: Erectile dysfunction was present in 83.3% of men and sexual dysfunction in 77.8% of women treated with DBS-STN. Women with sexual dysfunction had higher emotional well-being 39-item Parkinson's Disease Questionnaire scores (P=0.017) and a higher prevalence of cardiovascular diseases (P=0.012) comparing with women without sexual dysfunction. Age was an independent predictive factor for developing erectile dysfunction in men (relative risk=1.26; P=0.033) and sexual dysfunction in women (relative risk =1.30; P=0.039), regardless of DBS-STN submission. CONCLUSIONS: Sexual function in both sexes of patients with PD does not seem to be influenced by DBS-STN itself, but by psychological and clinical features.


Subject(s)
Deep Brain Stimulation , Parkinson Disease/complications , Sexual Dysfunction, Physiological/therapy , Female , Humans , Male , Middle Aged , Parkinson Disease/physiopathology , Sexual Dysfunction, Physiological/complications , Sexual Dysfunction, Physiological/physiopathology , Subthalamic Nucleus/physiopathology , Treatment Outcome
16.
PLoS Biol ; 18(3): e3000672, 2020 03.
Article in English | MEDLINE | ID: mdl-32226012

ABSTRACT

Vocal learning is the ability to modify vocal output on the basis of experience. Traditionally, species have been classified as either displaying or lacking this ability. A recent proposal, the vocal learning continuum, recognizes the need to have a more nuanced view of this phenotype and abandon the yes-no dichotomy. However, it also limits vocal learning to production of novel calls through imitation, moreover subserved by a forebrain-to-phonatory-muscles circuit. We discuss its limitations regarding the characterization of vocal learning across species and argue for a more permissive view.


Subject(s)
Learning/physiology , Vocalization, Animal/physiology , Animals , Behavior, Animal/physiology , Biological Evolution , Brain/physiology , Humans , Neural Pathways/physiology
17.
Sci Adv ; 5(12): eaaw7908, 2019 12.
Article in English | MEDLINE | ID: mdl-31840056

ABSTRACT

We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest (NC) stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 copy number variants. Our results reveal a key contribution of BAZ1B to NCSC in vitro induction and migration, coupled with a crucial involvement in NC-specific transcriptional circuits and distal regulation. By intersecting our experimental data with new paleogenetic analyses comparing modern and archaic humans, we found a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, thereby providing the first empirical validation of the human self-domestication hypothesis and positioning BAZ1B as a master regulator of the modern human face. In so doing, we provide experimental evidence that the craniofacial and cognitive/behavioral phenotypes caused by alterations of the Williams-Beuren syndrome critical region can serve as a powerful entry point into the evolution of the modern human face and prosociality.


Subject(s)
Chromosomes, Human, Pair 7/genetics , Domestication , Gene Dosage , Transcription Factors/genetics , Williams Syndrome/genetics , Cell Line , Cell Movement , Databases, Genetic , Epigenome , Evolution, Molecular , Face , Gene Regulatory Networks , Histone Code , Humans , Induced Pluripotent Stem Cells/metabolism , Neural Stem Cells/metabolism
18.
PLoS Biol ; 17(11): e3000389, 2019 11.
Article in English | MEDLINE | ID: mdl-31774810

ABSTRACT

Recently, prominent theoretical linguists have argued for an explicit scenario for the evolution of the human language capacity on the basis of its computational properties. Concretely, the simplicity of a minimalist formulation of the operation Merge, which allows humans to recursively compute hierarchical relations in language, has been used to promote a sudden-emergence, single-mutation scenario. In support of this view, Merge is said to be either fully present or fully absent: one cannot have half-Merge. On this basis, it is inferred that the emergence of our fully fledged language capacity had to be sudden. Thus, proponents of this view draw a parallelism between the formal complexity of the operation at the computational level and the number of evolutionary steps it must imply. Here, we examine this argument in detail and show that the jump from the atomicity of Merge to a single-mutation scenario is not valid and therefore cannot be used as justification for a theory of language evolution along those lines.


Subject(s)
Linguistics/classification , Linguistics/trends , Biological Evolution , Humans , Language
19.
Sensors (Basel) ; 19(11)2019 May 29.
Article in English | MEDLINE | ID: mdl-31146344

ABSTRACT

Physiological arousal has been increasingly applied to monitor exploration (or navigation) of a virtual environment (VE), especially when the VE is designed to evoke an anxiety-related response. The present work aims to evaluate human physiological reactions to safe and unsafe VEs. We compared the effect of the presence of handrails in the VE in two different samples, young and older adults, through self-reports and physiological data: Electrodermal activation (EDA) and electrocardiogram (ECG) sensors. After navigation, self-report questionnaires were administered. We found that the VEs evoked a clearly differentiated perception of safety and unsafety demonstrated through self-reports, with older adults being more discriminative in their responses and reporting a higher sense of presence. In terms of physiological data, the effect of handrails did not provoke significant differences in arousal. Safety was better operationalized by discriminating neutral/non-neutral spaces, where the reaction of older adults was more pronounced than young adults. Results serve as a basis for orienting future experiments in the line of VE and applied physiology usage in the architectural spaces design process. This specific work also provided a basis for the development of applications that integrate virtual reality and applied biofeedback, tapping into mobility and ageing.


Subject(s)
Arousal/physiology , Environment , Perception/physiology , Virtual Reality , Accidental Falls , Adult , Aged , Fear , Galvanic Skin Response , Heart Rate/physiology , Humans , Locomotion , Self Report , Surveys and Questionnaires , Young Adult
20.
Arch Ital Urol Androl ; 91(1): 1-4, 2019 Mar 29.
Article in English | MEDLINE | ID: mdl-30932420

ABSTRACT

OBJECTIVES: Standard multi-port laparoscopic adrenalectomy (LA) is considered the gold standard for benign adrenal tumors. Single-site LA has been proposed as a feasible and safe alternative because of lower invasiveness, improved cosmetics, less pain and shorter hospital stay. The objective was to evaluate and compare results of single-site transumbilical laparoendoscopic adrenalectomy with standard LA for adrenal tumors. MATERIALS AND METHODS: One hundred consecutive adrenalectomies from 93 patients, performed between March 2009 and June 2017, were laparoscopically excised: 59 by standard multi-port LA (group 1) and 41 by transumbilical laparoendoscopic single-site adrenalectomy (group 2). Data gathered included demographics, comorbidities, preoperative imaging, tumor characteristics, perioperative data, surgical complications, pathology and follow-up. IBM SPSS Statistics 23 software was used and p value < 0.05 was considered significant. RESULTS: Patients of group 2 were younger (48.7 ± 13.9 versus 59.7 ± 15.1 years; p < 0.001) and had fewer comorbidities (p < 0.05). Mean tumor diameter in group 2 was lower than those of group 1 (27.52 ± 14.3 versus 47.9 ± 30.6 mm; p < 0.001). Tumor laterality did not influence the choice of technique nor the surgical morbidity. All procedures were successfully completed, although one standard LA needed conversion to open surgery. Mean operative time, hemorrhagic losses, postoperative opioid analgesic requirement and hospital stay were not statistically different between groups. Most patients in group 2 (31 patients, 85.4%) did not require drainage, compared to 14 (25.4%) patients of group 1 (p < 0.001). Patients who underwent single-site LA resumed normal diet earlier (1.0 ± 0.2 versus 1.6 ± 0.7 days; p < 0.001). There were no reoperations and no perioperative mortality. Overall mean follow-up time was 94.9 ± 3.1 months, not statiscally different between groups (p = 0.7). CONCLUSIONS: Our results revealed that transumbilical approach for laparoendoscopic single-site adrenalectomy for adrenal tumors is a feasible and safe alternative to standard laparoscopic adrenalectomy.


Subject(s)
Adrenal Gland Neoplasms/surgery , Adrenalectomy/methods , Laparoscopy/methods , Pain, Postoperative/drug therapy , Adrenal Gland Neoplasms/pathology , Adrenalectomy/adverse effects , Adult , Aged , Analgesics, Opioid/administration & dosage , Female , Follow-Up Studies , Humans , Laparoscopy/adverse effects , Length of Stay , Male , Middle Aged , Operative Time , Retrospective Studies , Umbilicus
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