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1.
Neurología (Barc., Ed. impr.) ; 39(4): 345-352, May. 2024. tab, ilus, graf
Article in English | IBECS | ID: ibc-232517

ABSTRACT

Introduction: Reliable assessment of individuals with Parkinson's disease (PD) is essential for providing adequate treatment. Clinical assessment is a complex and time-consuming task, especially for bradykinesia, since its evaluation can be influenced by the degree of experience of the examiner, patient collaboration and individual bias. Improvement of the clinical evaluation can be obtained by considering assessments from several professionals. However, this is only true when inter and intra-rater agreement are high. Recently, the Movement Disorder Society highlighted, during the COVID-19 pandemic, the need to develop and validate technologies for remote assessment of the motor status of people with PD. Thus, this study introduces an objective strategy for the remote evaluation of bradykinesia using multi-specialist analysis. Methods: Twelve volunteers with PD participated and these were asked to execute finger tapping, hand opening/closing and pronation/supination movements. Each task was recorded and rated by fourteen PD health experts for each patient. The scores were assessed on an individual basis. Intra and inter-rater agreement and correlation were estimated. Results: The results showed that agreements and correlations between experienced examiners were high with low variability. In addition, group analysis was noted as possessing the potential to solve individual inconsistency bias. Conclusion: Furthermore, this study demonstrated the need for a group with prior training and experience, along with indicating the importance for the development of a clinical protocol that can use telemedicine for the evaluation of individuals with PD, as well as the inclusion of a specialized mediating group. In Addition, this research helps to the development of a valid remote assessment of bradykinesia.(AU)


Introducción: La evaluación confiable de las personas con la enfermedad de Parkinson (EP) es esencial para lograr con un tratamiento adecuado. La evaluación clínica es una tarea compleja y que requiere mucho tiempo, especialmente para la bradicinesia, ya que su evaluación puede verse influenciada por el grado de experiencia del examinador, la colaboración del paciente y el sesgo individual. La mejora de la evaluación clínica se puede obtener considerando las evaluaciones de varios profesionales. Sin embargo, esto solo es más preciso cuando el convenio intra e inter evaluadores es alto. Recientemente, la Sociedad de Trastornos del Movimiento destacó, durante la pandemia COVID-19, la necesidad de desarrollar y validar tecnologías para la evaluación remota del estado motor de las personas con EP. Por lo tanto, este estudio presenta una estrategia objetiva para la evaluación remota de la bradicinesia mediante un análisis multi evaluadores. Métodos: Participaron 12 voluntarios con EP y se les pidió que ejecutaran movimientos de golpeteo de dedos de las manos, movimientos con las manos y pronación-supinación de las manos. Cada ejecución del movimiento fue registrado y calificado por 14 expertos en salud. Las puntuaciones se evaluaron de forma individual. Se estimó el convenio y la correlación intra e inter evaluadores. Resultados: Los resultados mostraron que los convenios y las correlaciones inter evaluadores experimentados son altos con baja variabilidad. Además, se observó que el análisis de grupo posee el potencial de resolver el sesgo de inconsistencia individual. Conclusiones: De esta forma, este estudio demostró la necesidad de un grupo con formación y experiencia previa, señalando la importancia para el desarrollo de un protocolo clínico que utiliza la telemedicina para la evaluación de personas con EP y como la inclusión de un grupo mediador especializado. En realidad, esta investigación propone una evaluación remota eficaz de la bradicinesia.(AU)


Subject(s)
Humans , Male , Female , Neurology , Parkinson Disease , Hypokinesia , Telemedicine , Mental Status and Dementia Tests
2.
J Phys Condens Matter ; 36(32)2024 May 16.
Article in English | MEDLINE | ID: mdl-38697204

ABSTRACT

Magnetic systems with competing anisotropies generally exhibit asymmetry between the maximum amplitudes of the right and left maxima in a magnetoimpedance curve. Small errors in positioning the samples at the experimental setup may also produce such asymmetry. In this work, we present a study on the sources of the asymmetry between magnetoimpedance peaks in systems that present the exchange bias phenomenon, by comparing a phenomenological model to experimental data. A set of samples with different repetitions of the NiFe/FeMn exchange-biased bilayer was used in this study. From the frequency evolution of the asymmetry, together with magnetization curves, we were able to identify the sources for the observed magnetoimpedance asymmetry found on our experimental data.

3.
Neurologia (Engl Ed) ; 39(4): 345-352, 2024 May.
Article in English | MEDLINE | ID: mdl-38616062

ABSTRACT

INTRODUCTION: Reliable assessment of individuals with Parkinson's disease (PD) is essential for providing adequate treatment. Clinical assessment is a complex and time-consuming task, especially for bradykinesia, since its evaluation can be influenced by the degree of experience of the examiner, patient collaboration and individual bias. Improvement of the clinical evaluation can be obtained by considering assessments from several professionals. However, this is only true when inter and intra-rater agreement are high. Recently, the Movement Disorder Society highlighted, during the COVID-19 pandemic, the need to develop and validate technologies for remote assessment of the motor status of people with PD. Thus, this study introduces an objective strategy for the remote evaluation of bradykinesia using multi-specialist analysis. METHODS: Twelve volunteers with PD participated and these were asked to execute finger tapping, hand opening/closing and pronation/supination movements. Each task was recorded and rated by fourteen PD health experts for each patient. The scores were assessed on an individual basis. Intra and inter-rater agreement and correlation were estimated. RESULTS: The results showed that agreements and correlations between experienced examiners were high with low variability. In addition, group analysis was noted as possessing the potential to solve individual inconsistency bias. CONCLUSION: Furthermore, this study demonstrated the need for a group with prior training and experience, along with indicating the importance for the development of a clinical protocol that can use telemedicine for the evaluation of individuals with PD, as well as the inclusion of a specialized mediating group. In Addition, this research helps to the development of a valid remote assessment of bradykinesia.


Subject(s)
COVID-19 , Parkinson Disease , Humans , Hypokinesia/diagnosis , Hypokinesia/etiology , Parkinson Disease/complications , Parkinson Disease/diagnosis , Pandemics , Movement
4.
Philos Trans R Soc Lond B Biol Sci ; 379(1903): 20220326, 2024 Jun 10.
Article in English | MEDLINE | ID: mdl-38643787

ABSTRACT

Under anthropogenic pressures and climate change, most ecosystems are showing signs of reduced resilience. Unfortunately, some are more at risk of collapse and, without interventions, they may lose biodiversity, ecological integrity and ecosystem services. Here, we describe two tools that were developed under the auspices of the International Union for Conservation of Nature, the Red List of Ecosystems and the Nature-based Solutions Global Standard, and their capacity to first identify the ecosystems at risk of collapse in a nation and then develop solutions based on nature to improve their resilience. Nature-based solutions include, for example ecosystem-based adaptation, where solutions are developed to meet the needs of the local people while protecting nature to ensure greater resilience of the social-ecological system, not only the natural ecosystem. We discuss through a case study in the Andean high mountains and páramo social-ecological system how these approaches have been used in Colombia. We then discuss lessons learned and challenges that may reduce the capacity of a community to initiate such interventions, such as national policies and funding restrictions. We also discuss through another early case in Ecuador the importance to adapt these types of interventions to the geographical and cultural context of the social-ecological systems. This article is part of the theme issue 'Bringing nature into decision-making'.


Subject(s)
Climate Change , Conservation of Natural Resources , Ecosystem , Conservation of Natural Resources/methods , Colombia , Ecuador , Biodiversity
5.
J Reprod Immunol ; 163: 104214, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38508038

ABSTRACT

Although several testicular alterations promoted by coronavirus infection have been demonstrated, the extent, causes, and players of testicular pathogenesis are not totally understood. The present study aimed to investigate the short-term effects on male fertility of intranasally administered murine hepatitis virus strain 3 (MHV-3), a member of the genus Betacoronavirus, which causes a severe systemic acute infection. This mouse model might be used as a in vivo prototype for investigating the impact of betacoronavirus on the endocrine and exocrine testicular functions with the advantage to be performed in a biosafety level 2 condition. Herein, we performed virological, histopathological, and molecular studies regarding the testicular spermatogenesis and the spermatic quality analyses in an MHV-3-infected C57BL/6 mice. The main outcomes showed that MHV-3 infects mouse testis and induces a testicular inflammatory state, impairing the steroidogenic pathway. The infection led to several alterations in the testicular parenchyma, such as: seminiferous epithelium sloughing, retention of residual bodies, germ cell apoptosis, alterations in intercellular junction proteins, and worse spermatogenic parameters. Moreover, the levels of plasmatic testosterone as well as the quality of sperm production reduced. Therefore, the present data suggest that the viral/inflammatory impairment of the steroidogenic pathway and the consequent imbalance of androgen levels is critical in testicular pathology, disturbing the SC barrier function and the germ cell differentiation. Our study is important for comprehending the effects of beta coronavirus infections on testis function in order to develop treatments that could prevent virus-mediated male infertility.


Subject(s)
Mice, Inbred C57BL , Murine hepatitis virus , Spermatogenesis , Spermatozoa , Testis , Animals , Male , Mice , Testis/virology , Testis/pathology , Testis/immunology , Spermatozoa/virology , Spermatozoa/immunology , Spermatozoa/pathology , Disease Models, Animal , Coronavirus Infections/pathology , Coronavirus Infections/virology , Coronavirus Infections/immunology , Infertility, Male/virology , Infertility, Male/immunology , Infertility, Male/pathology , Infertility, Male/etiology , Testosterone/blood , Humans
6.
Aging Clin Exp Res ; 35(10): 2081-2087, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37452224

ABSTRACT

INTRODUCTION: Frailty is increasingly recognised as a dynamic syndrome, with multiple causes, dimensions and consequences. There is little understanding of how those frailty assessment metrics interact over time. The aim of this study was to describe the longitudinal correlation between five frailty metrics, namely multimorbidity, muscular strength, mood alterations, cognitive capacity, and functional capacity in a cohort study of aged care (nursing home) residents. METHODS: 248 aged care residents with Frailty Index at baseline of < 0.4 and no dementia were followed for 12 months. A multimorbidity score and an activity of daily living limitation score were created using individual items of the Frailty Index. Muscular strength was measured by grip strength. Cognitive capacity was measured using the Montreal Cognitive Assessment (MoCA) test. Mood alterations were measured using the anxiety/depression screening question from EQ-5D. We analysed the inter-individual correlation at baseline, association between baseline and future change, and within-individual correlation at baseline, 6 and 12 months. RESULTS: Population analysis shows that metrics were not associated at baseline. All of the studied metrics at baseline were associated with change in 12 months, with the exception of anxiety/depression scores. Pairwise within-individual correlation was strong between MoCA and grip strength (0.13, p = 0.02) and activity of daily living (- 0.48, p < 0.001), and between activities of daily living and multimorbidity index (0.28, p < 0.001). No within-individual correlation was found between anxiety depression score and other metrics. CONCLUSION: The results suggest an interdependence between comorbidities, physical capacity, cognition and activities of daily living in aged care residents. Comprehensive measurement of frailty-related metrics may provide improved understanding of frailty progression at later life stages.


Subject(s)
Frailty , Humans , Aged , Frailty/complications , Cohort Studies , Activities of Daily Living , Follow-Up Studies , Nursing Homes
7.
Int J Artif Organs ; 46(7)July, 2023.
Article in English | CONASS, Sec. Est. Saúde SP, SESSP-IDPCPROD, Sec. Est. Saúde SP | ID: biblio-1510702

ABSTRACT

OBJECTIVES: The reduction in size of these systems, which increases their reliability, biocompatibility and robustness, is essential to the complete implantation of the VADs, which is the main focus of the current state of art. Continuous flow VADs are actuated by brushless motors due to their reliability. The objective of the current project was to implement and simulate sensorless speed control in order to actuate VAD. METHODS: In order to increase the robustness of the system even further, a strategy that does not use Hall sensors can be implemented. The sensorless strategy to control speed that was implemented in this work aims to detect the position of the rotor by using the coil of the inactive phase in order to sense the variation in magnetic flux, which comes in the form of back-electromotive forces. RESULTS: A three phase inverter to electrically commute the motor's phases, a conditioning circuit that obtains the back-electromotive forces and a speed controller were developed. The speed control and the commutation logic were implemented by using a microcontroller. The results that were obtained in computational simulations indicated that the three-phase inverter, the commutation logic and the controller reached the project requirements. The implemented microcontroller commutation logic presented the expected behavior. Commutation signals were obtained in six stages, necessary for the correct activation of the phases of the brushless motor. The controller was validated in terms of its step response, demonstrating low overshoot and fast control action in the system. CONCLUSIONS: To further enhance the robustness of the system, an alternative strategy that eliminates the use of Hall sensors can be employed. The sensorless speed control strategy, implemented in this study, detects the position of the rotor by measuring variations in magnetic flux through the coil of the inactive phase, thus relying on back-electromotive forces for detection.


Subject(s)
Computer Simulation , Heart-Assist Devices , S Phase Cell Cycle Checkpoints , Logic
8.
Brain Impair ; 24(3): 721-731, 2023 12.
Article in English | MEDLINE | ID: mdl-38167367

ABSTRACT

OBJECTIVE: Decompressive craniectomy is part of the acute management of several neurosurgical illnesses, and is commonly followed by cranioplasty. Data are still scarce on the functional and cognitive outcomes following cranioplasty. We aim to evaluate these outcomes in patients who underwent cranioplasty following traumatic brain injury (TBI) or stroke. METHODS: In this prospective cohort, we assessed 1-month and 6-month neuropsychological and functional outcomes in TBI and stroke patients who underwent cranioplasty at a Brazilian tertiary center. The primary outcome was the change in the Digits Test at 1 and 6 months after cranioplasty. Repeated measures general linear models were employed to assess the patients' evolution and interactions with baseline characteristics. Effect size was estimated by the partial η2. RESULTS: A total of 20 TBI and 14 stroke patients were included (mean age 42 ± 14 years; 52.9% male; average schooling 9.5 ± 3.8 years; 91.2% right-handed). We found significant improvements in the Digits Tests up to 6 months after cranioplasty (p = 0.004, partial η2 = 0.183), as well as in attention, episodic memory, verbal fluency, working memory, inhibitory control, visuoconstructive and visuospatial abilities (partial η2 0.106-0.305). We found no interaction between the cranioplasty effect and age, sex or schooling. Patients submitted to cranioplasty earlier (<1 year) after injury had better outcomes. CONCLUSION: Cognitive and functional outcomes improved after cranioplasty following decompressive craniectomy for stroke or TBI. This effect was consistent regardless of age, sex, or education level and persisted after 6 months. Some degree of spontaneous improvement might have contributed to the results.


Subject(s)
Brain Injuries, Traumatic , Decompressive Craniectomy , Stroke , Humans , Male , Adult , Middle Aged , Infant , Female , Cohort Studies , Prospective Studies , Treatment Outcome , Decompressive Craniectomy/adverse effects , Brain Injuries, Traumatic/surgery , Stroke/surgery
9.
Reumatismo ; 74(3)2022 Dec 29.
Article in English | MEDLINE | ID: mdl-36580067

ABSTRACT

The purpose of this study was to look at the effects of low and high intensity resistance training (RT) on the mood states of fibromyalgia patients (FM). A total of 69 women participated in the study, with 31 healthy women serving as control group (HC), and 28 women diagnosed with FM being randomly assigned to one of two RT groups: low intensity or high intensity. Ten women diagnosed with FM formed a group of preferred intensity (PI). FM patients were subjected to 8 weeks of supervised RT with low, high, or PI doses. The exercise protocol was the same for both groups, with large muscle group exercises. Each intervention group performed a specific number of repetitions and rest periods based on the intensity. Training sessions took place twice a week. The HC received no type of intervention. The Brunel mood scale was used to assess mood states. When the mood profiles of patients with FM and healthy women were compared, patients with FM showed a worse mood profile. Low and high intensity RT for eight weeks did not improve the mood profile of FM patients. Anger showed a significant difference between LIRT and HIRT groups in the follow-up period (p=0.01); similarly significant differences between HIRT and HC were seen at baseline and at the 4 week evaluation in vigor (p=0.01 and p=0.001) and fatigue (p=0.01 and p=0.03). FM patients have a worse mood profile than healthy women, and eight weeks of low and high intensity RT did not result in significant improvements.


Subject(s)
Fibromyalgia , Resistance Training , Humans , Female , Fibromyalgia/therapy , Fibromyalgia/diagnosis , Resistance Training/methods , Treatment Outcome , Exercise Therapy/methods , Fatigue
10.
Immunobiology ; 227(6): 152284, 2022 11.
Article in English | MEDLINE | ID: mdl-36191584

ABSTRACT

Asthma is a disorder characterized by airflow obstruction, inflammation, declining airway function, bronchial hyperresponsiveness and tissue remodelling. Probiotics are defined as "live microorganisms that, when administered in adequate amounts, confer a health benefit on the host". The use of probiotics is becoming increasingly studied and recent evidence has suggested that it may provide therapeutic benefits in asthma and other diseases. Lactobacillus delbrueckii UFV-H2b20 fulfils all the requirements to be classified as probiotic. Previous studies have already shown the ability of L. delbrueckii UFV-H2b20 to stimulate the immune system. Our objective was to evaluate the protective effects of L. delbrueckii UFV-H2b20 in experimental allergic asthma. We used a murine model of ovalbumin-induced allergic airway inflammation to mimic allergic asthma. Oral treatment with L. delbrueckii UFV-H2b20 improves respiratory parameters and inhibits the inflammatory response in the lungs by decreasing the numbers of inflammatory monocytes, eosinophils and alveolar macrophages, as well as IgE levels. Treatment increased the IFN-γ/IL-4 cytokine ratio. Levels of IL-10 in the lungs were also increased in treated animals. Our results also showed that the probiotic administration increases the number of CD39+CD73+ T regulatory lymphocytes in the lung, suggesting a role for purinergic signals in the regulation of inflammation promoted by the treatment. Understanding the mechanisms of modulation of the immune system by probiotics could allow the development of probiotic preparations that are safe and have a direct action. Our results suggest that oral administration of L. delbrueckii UFV-H2b20 could be helpful to treat chronic inflammatory airway diseases, such as asthma.


Subject(s)
Asthma , Lactobacillus delbrueckii , Probiotics , Animals , Mice , Asthma/therapy , Bronchoalveolar Lavage Fluid , Cell Count , Cytokines/pharmacology , Disease Models, Animal , Inflammation , Interferon-gamma/metabolism , Lactobacillus delbrueckii/physiology , Lung , Mice, Inbred BALB C , Ovalbumin , T-Lymphocytes, Regulatory
11.
Eur Arch Paediatr Dent ; 23(4): 537-546, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35838891

ABSTRACT

BACKGROUND: This systematic review and meta-analysis aimed to answer the following question: Are children and adolescents with attention deficit hyperactivity disorder (ADHD) more likely to have gingival or periodontal disease-related outcomes than their non-ADHD peers? METHODS: Searches were conducted in the following databases: Embase, Scopus, Web of Science, and PubMed. Google Scholar and OpenGrey were also verified. Observational studies were included in which children and adolescents with ADHD were compared with their healthy peers in terms of gingival and/or periodontal endpoints. Bias appraisal was performed using the Joann Briggs tool for case-control and cross-sectional studies. Meta-analysis was performed using R language. Results are reported as mean difference (MD) and odds ratio (OR). Statistical analyses were performed in RStudio. RESULTS: A total of 149 records were identified in the searches. Seven studies were included. The meta-analysis showed that children and adolescents with ADHD had a higher mean gingival bleeding index (percentage) than their non-ADHD peers (MD = 11.25; CI = 0.08-22.41; I2 = 73%). There was no difference between groups for plaque index (MD = 4.87; CI = - 2.56 to 12.30; I2 = 63%) and gingivitis (OR = 1.42; CI = 0.22-9.21; I2 = 76%). Regarding the assessment of risk of bias, the major issue found in the articles was the absence of analyses for the control of confounding factors. CONCLUSION: Children and adolescents with ADHD had more gingival bleeding than their non-ADHD peers, but no difference regarding plaque or gingivitis was detected between groups. CLINICAL REGISTRATION: CRD42021258404.


Subject(s)
Attention Deficit Disorder with Hyperactivity , Dental Plaque , Gingivitis , Adolescent , Attention Deficit Disorder with Hyperactivity/complications , Child , Humans
12.
Int J Dent ; 2022: 2011864, 2022.
Article in English | MEDLINE | ID: mdl-35685910

ABSTRACT

Objective: The aim of this study was to evaluate the optical property changes after staining of precured (PC) and light-cured (LC) composites. Materials and Methods: Specimens were prepared using different LC composites (GrandioSO-Voco, Filtek Z350-3M/ESPE, Opallis-FGM, and Kalore-GC) and four PC blocks (Grandio Blocs-Voco, Lava Ultimate-3M ESPE, Brava Block-FGM, and Cerasmart-GC) from the same manufacturers (n = 20). Baseline color, gloss, translucency, and fluorescence were evaluated. The staining protocol was performed for 15 days, and the final optical properties were reevaluated. Results: The changes in each property were calculated (ΔGloss, ΔTranslucency, ΔFluorescency, ΔE ∗ 00). Data were analyzed by ANOVA and Tukey's test (α = 5%). Changes in all properties were observed after staining for all materials, with darkening and reduction of gloss, fluorescence, and translucency. Nonsignificant differences were observed between the light-cured and precured materials of the same manufacturer for ΔG and ΔT, but significant differences existed for ΔF and ΔE ∗ 00. For ΔF, the only significant differences were observed between Brava Block and Opallis (smaller). For ΔE ∗ 00, only the light-cured composites GrandioSO and Z350 showed significantly less change than the corresponding blocks. Precured composites were affected the same way as light-cured ones by the staining in relation to the reduction of gloss and translucency. Conclusion: A higher reduction in fluorescence was observed for only one brand of block and was similar for the others. The two brands of light-cured materials showed less staining, while for the others, the staining was similar. The effects of staining vary according to the composite formulation.

13.
Braz J Biol ; 84: e258476, 2022.
Article in English | MEDLINE | ID: mdl-35613211

ABSTRACT

Red pitaya (Hylocereus costaricensis) is a promising species, with high cultivation potential due to the organoleptic and functional qualities of its fruits. However, irrigation water salinity can affect the crop yield. Therefore, materials rich in organic substances can minimize the damage caused by excess salts in soil and/or water. Thus, the objective of this study was to evaluate the influence of organic matter sources as attenuators of salt stress on the production and biochemical responses of red pitaya seedlings. A completely randomized design in 4 × 5 factorial scheme, with five sources of organic matter (humus, sheep manure, biofertilizer, organic compost and sand + soil) and four salinities (0.6, 2.6, 4.6 and 6.6 dS m-1) with four replicates and two plants per plot was used. The shoot length, root length, cladode diameter, number of cladodes, number of sprotus, root volume, shoot dry mass, root dry mass and total dry mass, root and shoot dry mass ratio, chlorophyll a, b and total, amino acids and soluble sugars were evaluated at 120 days after the treatments began to be applied. Red pitaya is moderately tolerant to salinity (ECw from 4.0 to 6.0 dS m-1). Organic compost and sheep manure attenuate the harmful effects of salinity on red pitaya seedlings. Under salt stress conditions, red pitaya plants increase their levels of proline, amino acids and total sugars.


Subject(s)
Cactaceae , Seedlings , Animals , Amino Acids/metabolism , Amino Acids/pharmacology , Cactaceae/chemistry , Cactaceae/metabolism , Chlorophyll A/metabolism , Chlorophyll A/pharmacology , Fertilization , Manure , Salinity , Salt Stress , Sheep , Soil/chemistry , Sugars/metabolism , Water/metabolism
14.
Braz J Med Biol Res ; 55: e11771, 2022.
Article in English | MEDLINE | ID: mdl-35239777

ABSTRACT

Seizures are a disorder caused by structural brain lesions, life-threatening metabolic derangements, or drug toxicity. The present study describes the behavior related to proconvulsant activity induced by thiocolchicoside (TCC) in rats and investigates the electrocorticographic patterns of this behavior and the effectiveness of classic antiepileptic drugs used to control these seizures. Forty-nine adult male Wistar rats were used and divided into two phases of our experimental design: 1) evaluation of seizure-related behavior and electrocorticographic patterns induced by TCC and 2) evaluation of the efficacy of classical antiepileptic drugs to control the proconvulsive activity caused by TCC. Our results showed that TCC induced tonic-clonic seizures that caused changes in electrocorticographic readings, characteristic of convulsive activity, with average amplitude greater than that induced by pentylenetetrazole. Treatment with anticonvulsants, especially diazepam, reduced the electrocorticographic outbreaks induced by TCC. The results suggested that TCC caused seizures with increased power in brain oscillations up to 40 Hz and that diazepam may partially reverse the effects.


Subject(s)
Benzodiazepines , Seizures , Animals , Anticonvulsants/therapeutic use , Benzodiazepines/adverse effects , Colchicine/analogs & derivatives , Male , Pentylenetetrazole , Rats , Rats, Wistar , Seizures/chemically induced , Seizures/drug therapy
15.
Rev. esp. cardiol. (Ed. impr.) ; 75(3): 242-250, mar. 2022. mapas, tab, graf
Article in Spanish | IBECS | ID: ibc-206981

ABSTRACT

Introducción y objetivos: TPM1 es uno de los principales genes en la miocardiopatía hipertrófica (MCH). La información clínica sobre portadores es relativamente escasa, lo cual limita la interpretación de los estudios genéticos. Nuestro objetivo es establecer la correlación genotipo-fenotipo de la variante p.Arg21Leu de TPM1 en una serie de familias. Métodos: Se evaluó el TPM1 mediante secuenciación de nueva generación en 10.561 probandos con cardiopatías hereditarias. Se genotipificó a los familiares mediante Sanger. Se analizaron la cosegregación, las características clínicas y los eventos cardiovasculares. Se estimó la distribuición geográfica de las familias en Portugal y España. Resultados: Se identificó la variente p.Arg21Leu de TPM1 en 25/4.099 (0,61%) casos con MCH y estaba ausente en 6.462 controles con otras cardiopatías familiares (p<0,0001). Se identificó a 83 portadores (31 probandos). La LOD score combinada para cosegregación fue 3,95. La probabilidad acumulada de diagnóstico en portadores a los 50 años fue del 50% para los varones y el 25% para las mujeres. El 17 de los varones y el 46% de las mujeres no estaban afectadas a los 70 años. El grosor medio del ventrículo izquierdo fue 21,4 ±7,65mm. El riesgo de muerte súbita-MCH fue bajo en 34 (77,5%), intermedio en 8 (18%) y alto en 2 (4,5%) de los portadores. La supervivencia libre de eventos cardiovasculares fue del 87,5% a los 50 años. El 6% de los portadores eran homocigotos y el 18% tenían una variante adicional. El origen de las familias se concentró en Galicia, Extremadura y norte de Portugal, lo que indica un efecto fundador. Conclusiones: P.Arg21Leu es una variante patogénica de TPM1 asociada con MCH de penetrancia tardía/incompleta y pronóstico generalmente favorable (AU)


Introduction and objectives: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. Methods: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated probands with inherited heart diseases. Familial genetic screening was performed by the Sanger method. We analyzed TPM1 p.Arg21Leu pedigrees for cosegregation, clinical characteristics, and outcomes. We also estimated the geographical distribution of the carrier families in Portugal and Spain. Results: The TPM1 p.Arg21Leu variant was identified in 25/4099 (0.61%) HCM-cases, and was absent in 6462 control individuals with other inherited cardiac phenotypes (P<.0001). In total, 83 carriers (31 probands) were identified. The combined LOD score for familial cosegregation was 3.95. The cumulative probability of diagnosis in carriers was 50% at the age of 50 years for males, and was 25% in female carriers. At the age of 70 years, 17% of males and 46% of female carriers were unaffected. Mean maximal left ventricular wall thickness was 21.4 ±7.65mm. Calculated HCM sudden death risk was low in 34 carriers (77.5%), intermediated in 8 (18%), and high in only 2 (4.5%). Survival free of cardiovascular death or heart transplant was 87.5% at 50 years. Six percent of carriers were homozygous and 18% had an additional variant. Family origin was concentrated in Galicia, Extremadura, and northern Portugal, suggesting a founder effect. Conclusions: TPM1 p.Arg21Leu is a pathogenic HCM variant associated with late-onset/incomplete penetrance and a generally favorable prognosis (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Cardiomyopathy, Hypertrophic/genetics , Mutation/genetics , Tropomyosin/genetics , Genetic Association Studies , Phenotype , Portugal , Spain
16.
Anim Reprod Sci ; 246: 106946, 2022 Nov.
Article in English | MEDLINE | ID: mdl-35216848

ABSTRACT

When preserving sperm in the liquid or cryopreserved state, seminal plasma (SP) components within ejaculates can alter fertilizing capacity of these gametes. Depending on the species or how semen is collected, volume and concentration of SP components varies considerably. The SP contains substances essential for maintenance of sperm viability and fertility; however, these components can be deleterious depending on quantity, or duration of time before there is removal of SP from sperm in semen processing. Substances that impair (e.g., BSP - bull; HSP-1 - stallion; Major seminal plasma protein PSPI - boar) or improve (e.g., spermadhesin PSP-I - boar) spermatozoa fertilizing capacity have been identified. Depending on individual males, species, and semen collection procedures, SP removal may be beneficial before preservation in the liquid or cryopreserved state. In some cases, SP that is removed can be added back to thawing extender with there being positive effects in thawed sperm and for sperm viability in the female reproductive tract. In this review article, there is a focus on different effects of SP in samples of cooled and cryopreserved semen from four domestic species (pigs, horses, cattle, and sheep) with there being emphasis on how SP modulates the function and morphology of sperm cells before, during, and after preservation in the refrigerated or cryopreserved state. The present review is part of the Festschrift in honor of Dr. Duane Garner who made major contributions to the area of focus in this manuscript as evidenced by the many times his research is cited in this manuscript.


Subject(s)
Semen Preservation , Semen , Male , Animals , Swine , Horses , Cattle , Female , Sheep , Semen Preservation/veterinary , Semen Preservation/methods , Spermatozoa , Cryopreservation/veterinary , Semen Analysis/veterinary , Sperm Motility
18.
Ir J Psychol Med ; 39(1): 45-53, 2022 03.
Article in English | MEDLINE | ID: mdl-31130153

ABSTRACT

OBJECTIVES: Major depressive disorder (MDD) is a multifactorial syndrome with significant interactions between genetic and environmental factors. This study specifically investigates the association between family history of alcohol problems (FHAP) and family history of depression (FHD), and how these relate to different clusters of depressive symptoms. METHODS: Correlations between FHAP and FHD and different clusters of the Beck Depression Inventory (BDI) were studied. We sampled 333 employees from a general hospital who had been receiving a psychiatric consultation between 2005 and 2012. Analysis of variance (ANOVA) and Analysis of covariance (ANCOVA) models were conducted to explore these correlations. RESULTS: There was a significant positive correlation between FHAP and BDI affective score. This result remained significant even after the adjustment for other variables considered as important factors for MDD, such as gender, age, marital status, education, ethnic group and FHD. More specifically, FHAP was correlated with dissatisfaction and episodes of crying among the affective symptoms. FHAP showed no statistical difference in any of the other clusters score or in the BDI total score. Moreover, as expected, we found a correlation between FHD and BDI total score and Somatic and Cognitive clusters. CONCLUSION: FHAP should be routinely investigated in individuals presenting with depressive symptoms. This is especially important in cases presenting with dissatisfaction and episodes of crying in patients who do not endorse criteria for MDD. Due to study limitations, the findings require replication by neurobiological, epidemiological and clinical studies.


Subject(s)
Alcohol-Related Disorders , Depressive Disorder, Major , Depression , Humans , Psychiatric Status Rating Scales
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