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1.
Proc Natl Acad Sci U S A ; 121(31): e2400687121, 2024 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-39042677

RESUMEN

The seemingly straightforward task of tying one's shoes requires a sophisticated interplay of joints, muscles, and neural pathways, posing a formidable challenge for researchers studying the intricacies of coordination. A widely accepted framework for measuring coordinated behavior is the Haken-Kelso-Bunz (HKB) model. However, a significant limitation of this model is its lack of accounting for the diverse variability structures inherent in the coordinated systems it frequently models. Variability is a pervasive phenomenon across various biological and physical systems, and it changes in healthy adults, older adults, and pathological populations. Here, we show, both empirically and with simulations, that manipulating the variability in coordinated movements significantly impacts the ability to change coordination patterns-a fundamental feature of the HKB model. Our results demonstrate that synchronized bimanual coordination, mirroring a state of healthy variability, instigates earlier transitions of coordinated movements compared to other variability conditions. This suggests a heightened adaptability when movements possess a healthy variability. We anticipate our study to show the necessity of adapting the HKB model to encompass variability, particularly in predictive applications such as neuroimaging, cognition, skill development, biomechanics, and beyond.


Asunto(s)
Movimiento , Desempeño Psicomotor , Humanos , Masculino , Femenino , Desempeño Psicomotor/fisiología , Adulto , Movimiento/fisiología , Fenómenos Biomecánicos , Adulto Joven , Mano/fisiología
2.
Artículo en Inglés | MEDLINE | ID: mdl-38666361

RESUMEN

BACKGROUND: Physical decline due to aging has been associated with the risk of falls. Minimum toe clearance (MTC) is a gait parameter that might play a role in the mechanism of tripping and falling. However, it is unclear if there are any sex-related effects regarding MTC as people age. The present study investigated if there are sex-related differences in MTC in older active adults. METHODS: Twenty-three females and 23 males (F: 65.5 ±â€…4.8 years; M: 61.9 ±â€…5.2 years) walked on a treadmill at a preferred walking speed, while kinematic data were obtained at a sampling frequency of 100 Hz and up-sampled to 120 and 240 Hz. MTC was calculated from the kinematics data and evaluated concerning its magnitude (ie, MTC and MTC/leg length), the time between left/right MTC (ie, T-MTC), amount of variability (ie, coefficient of variation [CV] and coefficient of variation modified [CVm]), and temporal structure of variability, that is, the complexity of the time series (ie, MTC α, T-MTC α). RESULTS: No sex effects were found for MTC/leg length, for the amount of variability (ie, CV and CVm), and for the complexity of the time series (MTC α, T-MTC α). However, females exhibited significantly lower MTC and T-MTC after adjusting for walking speed, mass, and age as covariates. CONCLUSIONS: The reduced MTC in females suggests a potential sex-related disparity in the risk of tripping and falling among active older adults.


Asunto(s)
Marcha , Dedos del Pie , Caminata , Humanos , Femenino , Masculino , Anciano , Caminata/fisiología , Dedos del Pie/fisiología , Persona de Mediana Edad , Factores Sexuales , Marcha/fisiología , Fenómenos Biomecánicos , Accidentes por Caídas/prevención & control , Envejecimiento/fisiología , Prueba de Esfuerzo/métodos
3.
Genes (Basel) ; 15(8)2024 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-39202375

RESUMEN

Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in COL4A3, COL4A4, and COL4A5. Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD). From 2018 until today, we performed Whole Exome Sequencing (WES) in 19 patients with AS phenotype with or without positive family history. Fourteen of these patients were children. Genetic testing was extended to family members at risk. All patients received a genetic diagnosis of AS: five X-linked AS (XLAS) males, five X-linked AS (XLAS) females, six autosomal dominant AS (ADAS), and one autosomal recessive AS (ARAS). After cascade screening four XLAS males and eight XLAS females, six ADAS and three ARAS heterozygotes were added to our initial results. Fifteen patients were eligible to start treatment with RAAS inhibitors after their diagnosis. All XLAS female patients, ARAS heterozygotes, and ADAS have been advised to be followed up, so that therapeutic intervention can begin in the presence of microalbuminuria. Genetic diagnosis of AS ensures early therapeutic intervention and appropriate follow up to delay progression to chronic kidney disease, especially in thet pediatric population.


Asunto(s)
Nefritis Hereditaria , Humanos , Nefritis Hereditaria/genética , Nefritis Hereditaria/diagnóstico , Femenino , Masculino , Niño , Preescolar , Adolescente , Pruebas Genéticas/métodos , Secuenciación del Exoma , Colágeno Tipo IV/genética , Diagnóstico Precoz , Lactante , Mutación , Adulto , Fallo Renal Crónico/genética , Fallo Renal Crónico/diagnóstico , Fenotipo
5.
Biopsychosoc Med ; 7(1): 10, 2013 Apr 23.
Artículo en Inglés | MEDLINE | ID: mdl-23618427

RESUMEN

BACKGROUND: To investigate possible differences in emotional/behavioral problems and cognitive function in children with nephrotic syndrome compared to healthy controls and to examine the effect of disease-specific and steroid treatment-specific characteristics on the abovementioned variables. METHODS: Forty-one patients with nephrotic syndrome (23 boys, age range: 4.4-15.2 years) and 42 sex- and age-matched healthy control subjects (20 boys, age range: 4.1-13.4 years) were enrolled in the study. Disease (severity, age of diagnosis, duration) and steroid treatment (total duration, present methylprednisolone dose and duration of present dose) data were collected. In order to assess children's emotional/behavioral problems, the Child Behavior Checklist was administered. The Wechsler Intelligence Scale for Children - Third Edition was administered to assess Full-Scale, Verbal, and Performance intelligence quotient (IQ) scores. RESULTS: The patients presented with more internalizing problems (P = 0.015), including withdrawal (P = 0.012) and somatic complaints (P = 0 .011), but not more anxiety/depression or externalizing problems. A significant association was found between severity of disease and somatic complaints (P = 0.017) as well as externalizing problems (P = 0.030). Years of illness were significantly more in those presenting with abnormal anxiety/depression (P = 0.011). Duration of steroid medication was significantly higher among those presenting with abnormal anxiety/depression (P = 0.011) and externalizing problems (P = 0.039). IQ was not associated significantly with disease or steroid treatment variables. CONCLUSIONS: Psychosocial factors and outcomes may be important correlates of children's nephrotic syndrome and potential targets of thorough assessment and treatment.

6.
Int J Med Inform ; 78(12): 827-38, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19775933

RESUMEN

BACKGROUND: The evolution of information technologies and telecommunications has made the World Wide Web a low cost and easily accessible tool for the dissemination of information and knowledge. Continuous Medical Education (CME) sites dedicated in cytopathology field are rather poor, they do not succeed in following the constant changes and lack the ability of providing cytopathologists with a dynamic learning environment, adaptable to the development of cytopathology. Learning methods including skills such as decision making, reasoning and problem solving are critical in the development of such a learning environment. OBJECTIVES: The objectives of this study are (1) to demonstrate on the basis of a web-based training system the successful application of traditional learning theories and methods and (2) to effectively evaluate users' perception towards the educational program, using a combination of observers, theories and methods. IMPLEMENTATION: Trainees are given the opportunity to browse through the educational material, collaborate in synchronous and asynchronous mode, practice their skills through problems and tasks and test their knowledge using the self-evaluation tool. On the other hand, the trainers are responsible for editing learning material, attending students' progress and organizing the problem-based and task-based scenarios. The implementation of the web-based training system is based on the three-tier architecture and uses an Apache Tomcat web server and a MySQL database server. METHODS: By December 2008, CytoTrainer's learning environment contains two courses in cytopathology: Gynaecological Cytology and Thyroid Cytology offering about 2000 digital images and 20 case sessions. Our evaluation method is a combination of both qualitative and quantitative approaches to explore how the various parts of the system and students' attitudes work together. RESULTS: Trainees approved of the course's content, methodology and learning activities. The triangulation of evaluation methods revealed that the training program is suitable for the continuous distance education in cytopathology and that it has improved the trainees' skills in diagnostic cytopathology. CONCLUSIONS: The web-based training system can be successfully involved in the continuous distance education in cytopathology. It provides the opportunity to access learning material from any place at any time and supports the acquisition of diagnostic knowledge.


Asunto(s)
Biología Celular/educación , Instrucción por Computador/tendencias , Citodiagnóstico/normas , Educación a Distancia/tendencias , Internet/estadística & datos numéricos , Patología/educación , Humanos
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