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1.
Dement Geriatr Cogn Disord ; : 1, 2024 Jun 10.
Article in English | MEDLINE | ID: mdl-38857590

ABSTRACT

INTRODUCTION: Age remains one of the major risk factors for the onset of mild cognitive impairment (MCI) and dementia. Studies on the prevalence of these conditions in Mexico used different methods, tools, and populations with different health statuses. All these heterogeneous results may be a problem in identifying the true prevalence of MCI and dementia in Mexico. To our knowledge, there is not a systematic review available that presents essential figures on the prevalence of these conditions in Mexico. Therefore, we intend to access the maximum number of reports published on the topic and determine the prevalence of MCI and dementia in older Mexican adults. METHODS: A systematic review using PubMed, Cochrane, Research Gate, Lilacs, and Scielo databases was performed. Meta-analysis of the prevalence of MCI and dementia was performed using a random-effects model and presented in a forest plot among cross-sectional, epidemiological, and pooled studies. RESULTS: Sixteen articles were included. The overall prevalence of MCI of 18% (95% CI 0.10-0.27) was estimated from pooled information from 12 selected studies, in women 21% (95% CI 0.08-0.38) and in men 18% (95% CI 0.06-0.33). The overall prevalence of dementia of 10% (95% CI 0.06-0.14) was estimated from pooled information from 9 selected studies, in women 14% (95% CI 0.05-0.25) and in men 10% (95% CI 0.04-0.17). CONCLUSION: Mexican older individuals have a similar prevalence of dementia and MCI as reported by international data; nevertheless, the prevalence is higher than in some Latin American countries. Mexico has particular issues that must be resolved, such as a lack of research in the southern regions of the country and the high incidence of comorbidities.

2.
Microorganisms ; 12(4)2024 Mar 27.
Article in English | MEDLINE | ID: mdl-38674609

ABSTRACT

Nontuberculous mycobacteria (NTM) are environmental and ubiquitous, but only a few species are associated with disease, often presented as nodular/bronchiectatic or cavitary pulmonary forms. Bronchiectasis, airways dilatations characterized by chronic productive cough, is the main presentation of NTM pulmonary disease. The current Cole's vicious circle model for bronchiectasis proposes that it progresses from a damaging insult, such as pneumonia, that affects the respiratory epithelium and compromises mucociliary clearance mechanisms, allowing microorganisms to colonize the airways. An important bronchiectasis risk factor is primary ciliary dyskinesia, but other ciliopathies, such as those associated with connective tissue diseases, also seem to facilitate bronchiectasis, as may occur in Lady Windermere syndrome, caused by M. avium infection. Inhaled NTM may become part of the lung microbiome. If the dose is too large, they may grow excessively as a biofilm and lead to disease. The incidence of NTM pulmonary disease has increased in the last two decades, which may have influenced the parallel increase in bronchiectasis incidence. We propose that ciliary dyskinesia is the main promoter of bronchiectasis, and that the bacteria most frequently involved are NTM. Restoration of ciliary function and impairment of mycobacterial biofilm formation may provide effective therapeutic alternatives to antibiotics.

3.
Eur J Hum Genet ; 2024 Apr 27.
Article in English | MEDLINE | ID: mdl-38678163

ABSTRACT

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative syndrome caused by de novo heterozygous variants in either H3-3A or H3-3B [1-4]. Here, we analyze the data of the 58 previously published individuals along 38 unpublished, unrelated individuals. In this larger cohort of 96 people, we identify causative missense, synonymous, and stop-loss variants. We also expand upon the phenotypic characterization by elaborating on the neurodevelopmental component of BLBS. Notably, phenotypic heterogeneity was present even amongst individuals harboring the same variant. To explore the complex phenotypic variation in this expanded cohort, the relationships between syndromic phenotypes with three variables of interest were interrogated: sex, gene containing the causative variant, and variant location in the H3.3 protein. While specific genotype-phenotype correlations have not been conclusively delineated, the results presented here suggest that the location of the variants within the H3.3 protein and the affected gene (H3-3A or H3-3B) contribute more to the severity of distinct phenotypes than sex. Since these variables do not account for all BLBS phenotypic variability, these findings suggest that additional factors may play a role in modifying the phenotypes of affected individuals. Histones are poised at the interface of genetics and epigenetics, highlighting the potential role for gene-environment interactions and the importance of future research.

4.
Environ Manage ; 73(6): 1231-1246, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38459261

ABSTRACT

Deforestation is one of the most relevant transformations characterizing global environmental change in the tropics at present. There is wide consensus in pointing the context-dependent nature of tropical deforestation. In this sense, a better characterization of the phenomenon considering the social context could provide a more accurate picture of tropical deforestation. With this aim, a Q-methodology discourse analysis was conducted to characterise the different discourses that coexist in the particular region of the Paraguayan Chaco concerning the development of cattle ranching and derived deforestation. Four different discourses were identified as making sense the wide range of interests and values coexisting and clashing in the Paraguayan Chaco, namely: the Environmentalist discourse, the Business discourse, the Resigned discourse, and the Possibilist discourse. The results point that the fundamental differences between the discourses are largely explained by the different positions on three specific domains: (i) the socio-economic benefits the expansion of cattle ranching brings about; (ii) the environmental impacts the expansion of cattle ranching and the derived deforestation brings on; and, finally (iii) the degree to which an active intervention from the side of policy making to regulate the expansion of cattle ranching and to minimize possible detrimental effects is seen as necessary. The position of the different discourses in relation to these domains could help policy makers to make measures and regulations more widely accepted and followed.


Subject(s)
Conservation of Natural Resources , Livestock , Animals , Conservation of Natural Resources/methods , Paraguay , Cattle
5.
bioRxiv ; 2024 Feb 04.
Article in English | MEDLINE | ID: mdl-38352329

ABSTRACT

Whole exome and genome sequencing, coupled with refined bioinformatic pipelines, have enabled improved diagnostic yields for individuals with Mendelian conditions and have led to the rapid identification of novel syndromes. For many Mendelian neurodevelopmental disorders (NDDs), there is a lack of pre-existing model systems for mechanistic work. Thus, it is critical for translational researchers to have an accessible phenotype- and genotype-informed approach for model system selection. Single-cell RNA sequencing data can be informative in such an approach, as it can indicate which cell types express a gene of interest at the highest levels across time. For Mendelian NDDs, such data for the developing human brain is especially useful. A valuable single-cell RNA sequencing dataset of the second trimester developing human brain was produced by Bhaduri et al in 2021, but access to these data can be limited by computing power and the learning curve of single-cell data analysis. To reduce these barriers for translational research on Mendelian NDDs, we have built the web-based tool, Neurodevelopment in Trimester 2 - VIsualization of Single cell Data Online Tool (NeuroTri2-VISDOT), for exploring this single-cell dataset, and we have employed it in several different settings to demonstrate its utility for the translational research community.

6.
Curr Mol Med ; 2023 Oct 24.
Article in English | MEDLINE | ID: mdl-37877563

ABSTRACT

OBJECTIVES: Polypyrimidine tract binding protein is a 57-Kda protein located in the perinucleolar compartment where it binds RNA and regulates several biological functions through the regulation of RNA splicing. Numerous research articles have been published that address the cellular network and functions of PTB and its isoforms in various disease states. METHODOLOGY: Through an extensive PubMed search, we attempt to summarize the relevant research into this biomolecule. RESULTS: Besides its roles in embryonic development, neuronal cell growth, RNA metabolism, apoptosis, and hematopoiesis, PTB can affect cancer growth via several metabolic, proliferative, and structural mechanisms. PTB overexpression has been documented in several cancers where it plays a role as a novel prognostic factor. CONCLUSION: The diverse carcinogenic effect opens an argument into its potential role in inhibitory targeted therapy.

7.
Viruses ; 15(10)2023 09 27.
Article in English | MEDLINE | ID: mdl-37896784

ABSTRACT

Hepatitis E Virus (HEV) infection is an emergent zoonotic disease of increasing concern in developed regions. HEV genotype 3 (HEV-3) is mainly transmitted through consumption of contaminated food in high-income countries and is classified into at least 13 subtypes (3a-3n), based on p-distance values from complete genomes. In Latin America, HEV epidemiology studies are very scant. Our group has previously detected HEV3 in clinical cases, swine, wild boars, captive white-collared peccaries, and spotted deer from Uruguay. Herein, we aimed to provide novel insights and an updated overview of the molecular epidemiology of zoonotic HEV in Uruguay, including data from wastewater-based surveillance studies. A thorough analysis of HEV whole genomes and partial ORF2 sequences from Uruguayan human and domestic pig strains showed that they formed a separate monophyletic cluster with high nucleotide identity and exhibited p-distance values over the established cut-off (0.093) compared with reference subtypes' sequences. Furthermore, we found an overall prevalence of 10.87% (10/92) in wastewater, where two samples revealed a close relationship with humans, and animal reservoirs/hosts isolates from Uruguay. In conclusion, a single, new HEV-3 subtype currently circulates in different epidemiological settings in Uruguay, and we propose its designation as 3o along with its reference sequence.


Subject(s)
Deer , Hepatitis E virus , Hepatitis E , Swine Diseases , Swine , Animals , Humans , Hepatitis E virus/genetics , Hepatitis E/epidemiology , Hepatitis E/veterinary , Uruguay/epidemiology , Phylogeny , Genotype , Deer/genetics , Sus scrofa/genetics , Environmental Monitoring , RNA, Viral/genetics
8.
Gac. méd. espirit ; 25(2): [14], ago. 2023.
Article in Spanish | LILACS | ID: biblio-1514149

ABSTRACT

Fundamento: Las alteraciones del estado nutricional materno generalmente se relacionan con desviaciones del crecimiento fetal, que pueden detectarse por los parámetros biofísicos fetales e identifican la posible condición trófica al nacer. Objetivo: Determinar la posible relación entre los parámetros biométricos fetales, la condición trófica al nacer y el producto de acumulación de los lípidos. Metodología: Se realizó un estudio transversal en el Policlínico Chiqui Gómez Lubian del municipio Santa Clara, durante el año 2019, en una población de 253 gestantes normopeso supuestamente sanas al inicio de la gestación. La muestra no probabilística fue de 144 gestantes. Las variables de estudio fueron: producto de acumulación de los lípidos, biometría fetal y condición trófica al nacer. Se utilizaron métodos teóricos, empíricos y estadísticos. Resultados: En el segundo trimestre ningún parámetro biométrico coincidió con la condición al nacer de pequeño, mientras que para el grande coincidieron las circunferencias cefálica y abdominal. En el tercer trimestre la longitud del fémur y la circunferencia abdominal coinciden en la identificación del pequeño y del grande. El PAL se correlacionó con la circunferencia abdominal del tercer trimestre y con el peso al nacer; presentando mayor frecuencia de valores en el tercer tertil para los nacimientos grandes. Conclusiones: La circunferencia abdominal fue el parámetro biométrico con mayor coincidencia con la condición trófica al nacer, la que se asoció con valores en el tercer tertil del PAL para la detección de nacimientos grandes, relacionándose el fenotipo normopeso metabólicamente obeso con el crecimiento fetal por exceso.


Background: Maternal nutritional status disorders are usually related to fetal growth deviations, which can be detected by fetal biophysical parameters and identify the possible trophic condition at birth. Objective: To determine the possible relationship between fetal biometric parameters, the birth trophic state and lipid accumulation product. Methodology: A cross-sectional study was conducted at the Chiqui Gómez Lubian Polyclinic in Santa Clara municipality, during 2019, in a population of 253 normal-weight pregnant women who were apparently healthy at the beginning of their gestation. The non-probability sample was made up of 144 pregnant women. Study variables were: lipid accumulation product, fetal biometry and trophic condition at birth. Theoretical, empirical and statistical methods were used. Results: In the second trimester, none of the biometric parameters matched the condition at birth as a small child, while in the large one the head and abdominal circumferences matched. In the third trimester, femoral length and abdominal circumference coincide in identifying the small one and the large one. LAP correlated with third trimester abdominal circumference and birth weight, presenting higher frequency of values in the third tertile for large births. Conclusions: Abdominal circumference was the biometric parameter with the highest coincidence with trophic condition at birth, associated with values in the third tertile of the LAP for detecting large births, relating the metabolically obese normal weight phenotype with excessive fetal growth.


Subject(s)
Infant, Newborn , Biometry , Gestational Age , Fetal Weight , Fetal Development , Lipid Accumulation Product
9.
Trends Mol Med ; 29(10): 783-785, 2023 10.
Article in English | MEDLINE | ID: mdl-37455236

ABSTRACT

TBCK syndrome is an autosomal recessive disorder primarily characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), and distinctive craniofacial phenotypes. High variability is observed among affected individuals and their corresponding variants, making clinical diagnosis challenging. Here, we discuss recent breakthroughs in clinical considerations, TBCK function, and therapeutic development.


Subject(s)
Neurodegenerative Diseases , Protein Serine-Threonine Kinases , Humans , Protein Serine-Threonine Kinases/genetics , Neurodegenerative Diseases/diagnosis , Neurodegenerative Diseases/etiology , Muscle Hypotonia/genetics , Muscle Hypotonia/pathology , Phenotype
10.
J Autism Dev Disord ; 2023 Jul 06.
Article in English | MEDLINE | ID: mdl-37410256

ABSTRACT

Research shows many positive effects from physical exercise. The present study examined the impact of a structured physical exercise program compared to treatment as usual on the gross motor skills of children diagnosed with autism spectrum disorder (ASD). Participants included 20 children, from 4 to 7 years old, who were assigned to two groups; an experimental group (n = 10) who received a structured physical exercise program for 60-min sessions, three times a week for eight weeks, and a control group (n = 10) who received conventional physiotherapy. Gross motor skills were assessed with the Abbreviated Development Scale -3 before and after the physical exercise program. The experimental group exhibited significant improvements in gross motor skills compared to the control group. This study suggests that structured physical exercise programs can improve gross motor skills in children with ASD.

11.
Enferm Clin (Engl Ed) ; 33(4): 278-291, 2023.
Article in English | MEDLINE | ID: mdl-37392999

ABSTRACT

OBJECTIVE: To evaluate the attitudes, capacities and perceived barriers associated with research among nurses and midwives of the Canary Health Service (SCS). METHODS: Descriptive observational cross-sectional study with an analytical component carried out in the different SCS departments by means of an online survey in which sociodemographic and specific variables, the Spanish version of the Attitudes towards Research and Development within Nursing Questionnaire (ATRDNQ-e) instrument and the BARRIERS scale were collected. Authorisation was obtained from the two provincial ethics committees. A descriptive and inferential analysis (Mann-Whitney U test and Kruskal-Wallis test, post hoc contrast by Dwass-Steel-Critchlow-Fligne test) was performed with JAMOVI® v.2.3.24 software. RESULTS: A total of 512 nurses and midwives with a mean age of 41.82 years participated in the study. Regarding the scores with the ATRDNQ-e instrument, the dimension with the lowest score was «Language of research¼ (mean = 3.55/SD = 0.84) and the highest «Assessment of nursing research and development of the nursing discipline¼ (mean = 4.54/SD = 0.52). The total mean score with the BARRIERS scale was 54.33 (SD = 16.52), with «Organizational characteristics¼ being the highest scoring subscale (mean = 17.25/SD = 5.90). The two highest perceived barriers were «Not enough time at work to implement new ideas¼ (mean = 2.55/SD = 1.11) and «Nursing does not have time to read research¼ (mean = 2.46/ SD = 1.11). CONCLUSIONS: SCS nurses have a positive attitude towards research, although there are some barriers where improvement actions for nursing research should be implemented.


Subject(s)
Canaries , Nursing Research , Adult , Animals , Humans , Attitude of Health Personnel , Cross-Sectional Studies , Health Services
12.
Nat Protoc ; 18(7): 2014-2031, 2023 07.
Article in English | MEDLINE | ID: mdl-37286821

ABSTRACT

Spheroid culture systems have allowed in vitro propagation of cells unable to grow in canonical cell culturing conditions, and may capture cellular contexts that model tumor growth better than current model systems. The insights gleaned from genome-wide clustered regularly interspaced short palindromic repeat (CRISPR) screening of thousands of cancer cell lines grown in conventional culture conditions illustrate the value of such CRISPR pooled screens. It is clear that similar genome-wide CRISPR screens of three-dimensional spheroid cultures will be important for future biological discovery. Here, we present a protocol for genome-wide CRISPR screening of three-dimensional neurospheres. While many in-depth protocols and discussions have been published for more typical cell lines, few detailed protocols are currently available in the literature for genome-wide screening in spheroidal cell lines. For those who want to screen such cell lines, and particularly neurospheres, we provide a step-by-step description of assay development tests to be performed before screening, as well as for the screen itself. We highlight considerations of variables that make these screens distinct from, or similar to, typical nonspheroid cell lines throughout. Finally, we illustrate typical outcomes of neurosphere genome-wide screens, and how neurosphere screens typically produce slightly more heterogeneous signal distributions than more canonical cancer cell lines. Completion of this entire protocol will take 8-12 weeks from the initial assay development tests to deconvolution of the sequencing data.


Subject(s)
Clustered Regularly Interspaced Short Palindromic Repeats , Neoplasms , Humans , Clustered Regularly Interspaced Short Palindromic Repeats/genetics , CRISPR-Cas Systems , Genome , Cell Line
13.
Medicentro (Villa Clara) ; 27(2)jun. 2023.
Article in Spanish | LILACS | ID: biblio-1440527

ABSTRACT

Introducción: La muerte fetal es uno de los accidentes obstétricos más difíciles de enfrentar, tanto para la paciente y su familia como para el personal de salud que atiende a la gestante. Objetivo: Identificar los factores de riesgo maternos asociados con la muerte fetal tardía en el contexto santaclareño. Métodos: Se realizó un estudio descriptivo, longitudinal y retrospectivo en el municipio Santa Clara, provincia Villa Clara, en el período comprendido de enero de 2015 a diciembre de 2019. La población estuvo conformada por 71 gestantes con fetos muertos en una etapa tardía y sus productos; en el análisis y procesamiento de los datos, se usó el software SPSS versión 20 para Windows. Resultados: Existió predominio de gestantes multíparas (56,3 %), en edad reproductiva óptima (69 %) y con uno a tres factores de riesgo (71,8 %). Conclusiones: Los factores maternos asociados con mayor frecuencia a la muerte fetal tardía pueden agruparse en: los vinculados a las enfermedades crónicas, en primer lugar la hipertensión arterial y en segundo el hipotiroidismo, y los relacionados con las afecciones del tracto genital, entre las que prevalece la vaginitis.


Introduction: fetal death is one of the most difficult obstetric accidents to face, both for patients and their families as well as for the health personnel who take care of the pregnant women. Objective: to identify the maternal risk factors associated with late fetal death in the Santa Clara context. Methods: a descriptive, longitudinal and retrospective study was carried out in Santa Clara municipality, Villa Clara province, from January 2015 to December 2019. The population consisted of 71 pregnant women with late fetal demise and their products; the SPSS software version 20.0 for Windows was used in the data processing and analysis. Results: multiparous pregnant women predominated (56.3%), in optimal reproductive age (69%) and from one to three risk factors (71.8%). Conclusions: the most frequently maternal factors associated with late fetal death can be grouped into those that were linked to chronic diseases, firstly arterial hypertension and secondly hypothyroidism, and those related to disorders of the genital tract, among which vaginitis prevails.


Subject(s)
Stillbirth , Perinatal Mortality , Fetal Death
14.
Medicentro (Villa Clara) ; 27(2)jun. 2023.
Article in Spanish | LILACS | ID: biblio-1440525

ABSTRACT

Introducción: La estrategia de código rojo permite la atención inmediata, sistematizada y coordinada de la hemorragia posparto. Es un esquema de trabajo organizado que contribuye a un tratamiento oportuno y pertinente de la hemorragia obstétrica. Con esta herramienta, el equipo asistencial puede seguir los pasos indicados sin desviarse del objetivo, trabajar de manera ordenada y aplicarlo en cada situación específica, para disminuir la morbilidad y mortalidad materna. Objetivo: Caracterizar los resultados de la estrategia de código rojo en la atención a pacientes con hemorragia posparto en Villa Clara. Métodos: Se realizó un estudio de desarrollo, observacional, de corte transversal y retrospectivo de las pacientes con hemorragia posparto en Villa Clara, durante el período de enero 2018 a junio de 2021. La muestra no probabilística quedó conformada por 127 pacientes. Se utilizaron medidas de resumen para la descripción de las variables. En las cuantitativas se emplearon medidas de tendencia central y de dispersión (media y desviación estándar), para las variables cualitativas se mostraron frecuencias absolutas y relativas. Para establecer las relaciones entre variables se aplicó la prueba de independencia basada en la distribución Ji cuadrado. Resultados: En la evaluación del cumplimiento del protocolo de código rojo resultaron incorrectos algunos parámetros como: el diagnóstico de las etapas del choque y el tiempo de accionar. Conclusiones: Cada institución debe contar con protocolos y guías de atención de pacientes obstétricas con bases científicas que se correspondan a las posibilidades de cada país; estos protocolos deben facilitar y perfeccionar las acciones del médico.


Introduction: the red code strategy allows immediate, systematized and coordinated care of postpartum hemorrhage. It is an organized work scheme that contributes to timely and relevant treatment of obstetric hemorrhage. The healthcare team can follow with this tool the indicated steps without deviating from the objective, work in an orderly manner and apply it in each specific situation to reduce maternal morbidity and mortality. Objective: to characterize the results of the red code strategy in the care of patients with postpartum hemorrhage in Villa Clara. Methods: a retrospective, cross-sectional, observational and developmental study was carried out in patients with postpartum hemorrhage in Villa Clara from January 2018 to June 2021. The non-probabilistic sample consisted of 127 patients. Summary measures were used to describe the variables. Measures of central tendency and dispersion (mean and standard deviation) were used in the quantitative variables as well as absolute and relative frequencies were shown for the qualitative ones. The independence test based on the Chi-square distribution was applied to establish the relationships between variables. Results: some parameters were incorrect in the evaluation of compliance with the red code protocol such as the diagnosis of the stages of shock and the time to act. Conclusions: each institution must have protocols and guidelines for the care of obstetric patients with scientific bases that correspond to the possibilities of each country; these protocols should facilitate and improve the doctor's actions.


Subject(s)
Shock , Evaluation Study , Postpartum Hemorrhage
15.
Cancers (Basel) ; 15(8)2023 Apr 10.
Article in English | MEDLINE | ID: mdl-37190159

ABSTRACT

The perinucleolar compartment (PNC) is a small nuclear body that plays important role in tumorigenesis. PNC prevalence correlates with poor prognosis and cancer metastasis. Its expression in pediatric Ewing sarcoma (EWS) has not previously been documented. In this study, we analyzed 40 EWS tumor cases from Caucasian and Hispanic patients for PNC prevalence by immunohistochemical detection of polypyrimidine tract binding protein and correlated the prevalence with dysregulated microRNA profiles. EWS cases showed staining ranging from 0 to 100%, which were categorized as diffuse (≥77%, n = 9, high PNC) or not diffuse (<77%, n = 31) for low PNC. High PNC prevalence was significantly higher in Hispanic patients from the US (n = 6, p = 0.017) and in patients who relapsed with metastatic disease (n = 4; p = 0.011). High PNC was associated with significantly shorter disease-free survival and early recurrence compared to those with low PNC. Using NanoString digital profiling, high PNC tumors revealed upregulation of eight and downregulation of 18 microRNAs. Of these, miR-320d and miR-29c-3p had the most significant differential expression in tumors with high PNC. In conclusion, this is the first study that demonstrates the presence of PNC in EWS, reflecting its utility as a predictive biomarker associated with tumor metastasis, specific microRNA profile, Hispanic ethnic origin, and poor prognosis.

16.
Av. psicol. latinoam ; 41(2): [1-14], may-ago. 2023.
Article in English | LILACS | ID: biblio-1510502

ABSTRACT

El TDAH es el trastorno del neurodesarrollo más diagnosticado en escolares. La evidencia indica que las funciones ejecutivas, como es el caso de la velocidad de procesamiento y la memoria de trabajo, están afectadas en estudiantes con TDAH, aunque no existe un acuerdo definitivo sobre su presencia sistemática en este trastorno. Esta investigación pretende determinar si la velocidad de procesamiento y la memoria de trabajo corresponden a variables cognitivas en el TDAH. Participaron 138 estudiantes de 10 a 17 años. Se determinó TDAH con la escala VADTRS; se evaluó velocidad de procesamiento con una tarea de rapidez grafomotora y memoria de trabajo con una tarea de dígitos. Se utilizó un diseño transversal, univariante e intersujeto para el análisis de los datos. El VADTRS detectó un grupo con TDAH (N = 97) y otro sin TDAH (N = 41). A ambos grupos se aplicaron tareas de velocidad de procesamiento y memoria de trabajo; los análisis permitieron detectar diferencias significativas en estas variables entre los grupos con y sin TDAH. El grupo con TDAH fue dividido según su presentación; no se detectaron diferencias significativas en velocidad de procesamiento; la memoria de trabajo mostró un rendimiento significativa- mente menor en las presentaciones de TDAH inatenta y combinada. La velocidad de procesamiento y la memoria de trabajo parecen distinguir entre sujetos con y sin TDAH, la velocidad de procesamiento no parece distinguir entre presentaciones y la memoria de trabajo aparece alterada en aquellas presentaciones en que el componente atencional es definitorio


ADHD is the most commonly diagnosed neurodevelopmental disorder in schoolchildren. Evidence indicates that executive functions, such as processing speed and working memory, are affected in students with ADHD, although there is no definitive agreement on their sys- tematic presence in this disorder. This research aims to determine whether processing speed and working memory correspond to cognitive variables in ADHD. A total of 138 students aged 10 to 17 years participated. ADHD was determined with the VADTRS scale; processing speed was assessed with a graphomotor speed task and working memory with a digit task. A cross-sectional, univariate, intersubject design was used for data analy- sis. The VADTRS detected one group with ADHD (N = 97) and one without ADHD (N = 41). Processing speed and working memory tasks were applied to both groups; analyses detected significant differences in these variables between the ADHD and non- ADHD groups. The ADHD group was divided according to presentation; no significant differences were detected in processing speed; working memory showed significantly lower performance in the inattentive and combined ADHD presentations. Processing speed and working memory appear to distinguish between subjects with and without ADHD, processing speed does not appear to distinguish between presentations, and working memory appears impaired in those presentations in which the attentional component is defining.


O TDAH é o distúrbio de desenvolvimento neurológico mais frequentemente diagnosticado em crianças em idade escolar. As provas indicam que as funções executivas, tais como a velocidade de processamento e a memória de trabalho, são afectadas nos estudantes com TDAH, embora não haja um acordo definitivo sobre a sua presença sistemática nesta doença. Esta investiga- ção visa determinar se a velocidade de processamento e a memória de trabalho correspondem a variáveis cognitivas na TDAH. Um total de 138 estudantes com idades compreendidas entre os 10 e os 17 anos participaram. A TDAH foi determinada com a escala VADTRS; a velocidade de processamento foi avaliada com uma tarefa de velocidade grafomotora e a memória de trabalho com uma tarefa de dígitos. Foi utilizado um desenho transversal, univariado e intersubjecto para análise de dados. O VADTRS detectou um grupo com ADHD (N = 97) e um grupo sem ADHD (N = 41). Ambos os grupos foram administrados com velocidade de processamento e tarefas de memória de trabalho; as análises detectaram diferenças significativas nestas variáveis entre os grupos com ADHD e sem ADHD. O grupo TDAH foi dividido de acordo com a apresentação; não foram detectadas diferenças significativas na velocidade de processamento; a memória de trabalho mostrou um desempenho significativamente inferior nas apresentações de TDAH desatenta e combinada. A velocidade de processamento e a memória de trabalho parecem distinguir entre assuntos com e sem TDAH; a velocidade de processamento não parece distinguir entre apresentações e memória de trabalho parece prejudicada nas apresentações em que a componente atencional está a definir


Subject(s)
Humans
17.
PLoS One ; 18(4): e0284483, 2023.
Article in English | MEDLINE | ID: mdl-37083889

ABSTRACT

SARS-CoV-2 surveillance of viral populations in wastewater samples is recognized as a useful tool for monitoring epidemic waves and boosting health preparedness. Next generation sequencing of viral RNA isolated from wastewater is a convenient and cost-effective strategy to understand the molecular epidemiology of SARS-CoV-2 and provide insights on the population dynamics of viral variants at the community level. However, in low- and middle-income countries, isolated groups have performed wastewater monitoring and data has not been extensively shared in the scientific community. Here we report the results of monitoring the co-circulation and abundance of variants of concern (VOCs) of SARS-CoV-2 in Uruguay, a small country in Latin America, between November 2020-July 2021 using wastewater surveillance. RNA isolated from wastewater was characterized by targeted sequencing of the Receptor Binding Domain region within the spike gene. Two computational approaches were used to track the viral variants. The results of the wastewater analysis showed the transition in the overall predominance of viral variants in wastewater from No-VOCs to successive VOCs, in agreement with clinical surveillance from sequencing of nasal swabs. The mutations K417T, E484K and N501Y, that characterize the Gamma VOC, were detected as early as December 2020, several weeks before the first clinical case was reported. Interestingly, a non-synonymous mutation described in the Delta VOC, L452R, was detected at a very low frequency since April 2021 when using a recently described sequence analysis tool (SAM Refiner). Wastewater NGS-based surveillance of SARS-CoV-2 is a reliable and complementary tool for monitoring the introduction and prevalence of VOCs at a community level allowing early public health decisions. This approach allows the tracking of symptomatic and asymptomatic individuals, who are generally under-reported in countries with limited clinical testing capacity. Our results suggests that wastewater-based epidemiology can contribute to improving public health responses in low- and middle-income countries.


Subject(s)
COVID-19 , Wastewater , Humans , SARS-CoV-2/genetics , Wastewater-Based Epidemiological Monitoring , COVID-19/epidemiology , Genomics , High-Throughput Nucleotide Sequencing
18.
Rev. Fed. Centroam. Ginecol. Obstet. ; 27 (1), 2023;27(1): 3-10, 30 de abril de 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1426979

ABSTRACT

Introducción: La preeclampsia-eclampsia es una de las principales causas de morbimortalidad materna y perinatal. Objetivos: Determinar el riesgo aterogénico en la preeclampsia precoz y tardía. Método: Estudio descriptivo de corte transversal en gestantes que ingresaron en el hospital materno con diagnóstico de preeclampsia agravada entre los años 2010 ­ 2019. La muestra quedó constituida por 506 mujeres, que se subdividieron en precoz (menos de 34 semanas) y tardía (con 34 y más). Se determinó riesgo aterogénico en el momento del diagnóstico de preeclampsia grave y se clasificó a las gestantes según riesgo cardio metabólico usando el método multivariante de clasificación: técnica de conglomerados en dos fases. Las variables utilizadas para el riesgo aterogénico fueron los índices de Castelli y proaterogénico a partir del cociente CT/cHDL. Resultados: Con predominio en edad fértil, con una media de 27,3 años, en la preeclampsia precoz la media resulto 30,6 semanas y en la preeclampsia tardía 37,6 semanas. En los antecedentes patológicos se encontró la multiparidad en 211 gestantes, seguido de la Hipertensión arterial crónica en 207. Del total de las 506 pacientes, 488 tienen un riesgo moderado y máximo (419 (82,8%) máximo riesgo aterogénico y 69(13,6%) riesgo moderado) con un marcado predominio en el grupo de preeclampsia de aparición tardía. Conclusiones: Pertenecen generalmente al grupo de edades reproductivas, la mayoría son multíparas, y la hipertensión arterial crónica es uno de los antecedentes más frecuentes encontrados. El riesgo aterogénico máximo y moderado predomino en la mayoría de las mujeres con preeclampsia agravada sobre todo en la aparición tardía. (provisto por Infomedic International)


Introduction: Preeclampsia-eclampsia is one of the main causes of maternal and perinatal morbidity and mortality. Objectives: To determine the atherogenic risk in early and late preeclampsia. Methods: Descriptive cross-sectional study of pregnant women admitted to the maternity hospital with a diagnosis of aggravated preeclampsia between 2010 and 2019. The sample consisted of 506 women, who were subdivided into early (less than 34 weeks) and late (34 weeks and older). Atherogenic risk was determined at the time of diagnosis of severe preeclampsia and the pregnant women were classified according to cardio-metabolic risk using the multivariate method of classification: two-stage clustering technique. The variables used for atherogenic risk were the Castelli and proatherogenic indices based on the TC/cHDL ratio. Results: Predominantly in fertile age, with a mean of 27.3 years, in early preeclampsia the mean was 30.6 weeks and in late preeclampsia 37.6 weeks. In the pathological history, multiparity was found in 211 pregnant women, followed by chronic arterial hypertension in 207. Of the total 506 patients, 488 had moderate and maximum risk (419 (82.8%) maximum atherogenic risk and 69 (13.6%) moderate risk) with a marked predominance in the group of late onset preeclampsia. Conclusions: They generally belong to the reproductive age group, most are multiparous, and chronic arterial hypertension is one of the most frequent antecedents found. Maximum and moderate atherogenic risk predominated in most of the women with aggravated preeclampsia, especially in late onset. (provided by Infomedic International)

19.
Article in Spanish | LILACS, CUMED | ID: biblio-1508249

ABSTRACT

Introducción: El crecimiento y el desarrollo son fenómenos biológicos que implican aumento de masa celular y diferenciación de forma o función, respectivamente. En beneficio del diagnóstico, se utilizan las bondades del ultrasonido en la evolución biométrica del crecimiento fetal. Objetivo: Determinar mensuraciones biométricas fetales más asociadas a la restricción del crecimiento fetal en infantes que sufrieron restricción del crecimiento intrauterino. Métodos: Se realizó un estudio longitudinal descriptivo y retrospectivo de gestantes captadas en dos áreas de salud del municipio Santa Clara, que terminaron su embarazo entre septiembre del 2013 y octubre del 2018 y cuyos recién nacidos experimentaron restricción del crecimiento. La muestra se clasificó al nacimiento en pequeños y adecuados, según condición trófica y en cada grupo se estudió relación con valores percentilares de variables biométricas en los dos últimos trimestres. Resultados: Predominaron en todas las biometrías y en los dos trimestres los valores por debajo del décimo percentil. En la totalidad de los infantes y durante todo el período fetal, la circunferencia abdominal estuvo por debajo del percentil 10. En las variables largo del fémur y circunferencia cefálica los percentiles más altos se encontraron en el tercer trimestre y desde el segundo en la variable diámetro biparietal, posiblemente relacionado con restricciones asimétricas del crecimiento. Conclusiones: La variable biométrica circunferencia abdominal desde el segundo trimestre es fiable en la detección de restricciones del crecimiento intrauterino y su existencia por debajo del décimo percentil debe servir como certeza de su existencia, aun cuando la condición trófica del recién nacido parezca revelar otra realidad(AU)


Introduction: Growth and development are biological phenomenons involving cell mass increase and differentiation of form or function, respectively. For diagnostic purposes, the benefits of ultrasound are used for the biometric evolution of fetal growth. Objective: To determine fetal biometric measurements mostly associated with fetal growth restriction in infants who suffered intrauterine growth restriction. Methods: A descriptive and retrospective longitudinal study was carried out with pregnant women from two health areas of Santa Clara Municipality, who finished their pregnancy between September 2013 and October 2018 and whose newborns experienced growth restriction. The sample was classified at birth into small and adequate, according to trophic condition; and, in each group, the relationship with percentile values of biometric variables in the last two trimesters was studied. Results: Values below the tenth percentile predominated in all biometrics and in the two trimesters. In all infants and during the whole fetal period, abdominal circumference was below the tenth percentile. In the variables femur length and cephalic circumference, the highest percentiles were found in the third trimester; while, from the second trimester on, the same occurred in the variable biparietal diameter, possibly related to asymmetric growth restrictions. Conclusions: The biometric variable abdominal circumference is, from the second trimester on, reliable in the detection of intrauterine growth restrictions; its existence below the tenth percentile should serve as certainty of its existence, even when the trophic condition of the newborn seems to reveal another reality(AU)


Subject(s)
Humans , Female , Pregnancy , Biometry/methods , Fetal Growth Retardation/diagnostic imaging , Epidemiology, Descriptive , Retrospective Studies , Longitudinal Studies , Ultrasonography/methods
20.
Br J Haematol ; 201(4): 738-746, 2023 05.
Article in English | MEDLINE | ID: mdl-36733986

ABSTRACT

This cross-sectional study aimed to develop and validate a patient-reported outcomes (PROs) assessment tool to assess symptom burden and daily functioning in patients after chimeric antigen receptor (CAR) T-cell therapy, the MD Anderson Symptom Inventory (MDASI-CAR). The items were generated based on literature review, content elicitation interviews with patients, and clinician's review. The patients completed the MDASI core and module, single-item quality-of-life (QoL) measure and Patient-Reported Outcomes Measurement Information System-29 (PROMIS-29). The psychometric validation analysis was based on the acceptability after item reduction process. The final 10 MDASI-CAR module items included tremors, fever/chills, headache, balance, dizziness, attention, difficulty speaking, coughing, sexual dysfunction, and diarrhoea with high internal consistency (Cronbach's alpha: MDASI Core, 0.865; MDASI Interference, 0.915; CAR-T module, 0.746). The MDASI-CAR has excellent known-group validity that was demonstrated by differentiate patients based on patient's performance status (Cohen's d for MDASI core = -1.008, interference = -0.771, module = -0.835). Criterion validity was demonstrated by the significant correlations between the MDASI-CAR composite score, the single QoL item and the relevant domains on PROMIS-29 (all p < 0.05). This study established the MDASI-CAR module as a reliable and valid PRO tool for monitoring symptom burden after CAR T-cell therapy in patients with haematological malignancies. The findings need to be validated with a longitudinal design.


Subject(s)
Receptors, Chimeric Antigen , Humans , Quality of Life , Cross-Sectional Studies , Immunotherapy, Adoptive , Severity of Illness Index , Patient Reported Outcome Measures , Psychometrics , Reproducibility of Results , Cell- and Tissue-Based Therapy
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