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1.
J Pediatr Hematol Oncol ; 46(5): e296-e299, 2024 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-38748601

RESUMEN

Sickle cell diseases, ß-thalassemia, and other hemoglobinopathies are common in Africa. Their distribution differs from one region to another. There are higher frequencies in Western and Northern Africa. Their clinical complications presented a real public health problem in each country. For this, early treatment can improve the severity of these diseases. Hemoglobinopathies targeted by screening are associated with SCD, ß, and α thalassemia. Our study aim is to report our experience with newborn screening for hemoglobinopathy in Tunis. The 156 newborn's cord blood was collected at the time of childbirth in the center region (Farhat Hached Hôspital). We opted for hemoglobin exploration to achieve maximum efficiency and effectiveness in screening. After that, all patients suspected to have hemoglobinopathies are affected by molecular investigation. Our findings showed the presence of some hemoglobinopathies such as ß-thalassemia and α-thalassemia with the following frequencies: 12% and 0.33%. The molecular results show the presence of HBB: c.93-21G>A, IVS-I-110G>A, HBBc. -106G>A -56G>C, HBBc.404T>C, Hb Yaounde described for the first time in Tunisia and α 3,7 . In conclusion, newborn screening diagnoses neonates with different examples of hemoglobinopathies, which will be beneficial not only for the care of the child but also for genetic counseling of the potential risk's parents.


Asunto(s)
Hemoglobinopatías , Tamizaje Neonatal , Humanos , Recién Nacido , Túnez/epidemiología , Tamizaje Neonatal/métodos , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/epidemiología , Hemoglobinopatías/genética , Femenino , Masculino , Talasemia beta/diagnóstico , Talasemia beta/epidemiología , Talasemia beta/genética
2.
Sci Rep ; 12(1): 5933, 2022 04 08.
Artículo en Inglés | MEDLINE | ID: mdl-35396365

RESUMEN

Time-of-day influences both physical and mental performances. Its impact on motor learning is, however, not well established yet. Here, using a finger tapping-task, we investigated the time-of-day effect on skill acquisition (i.e., immediately after a physical or mental practice session) and consolidation (i.e., 24 h later). Two groups (one physical and one mental) were trained in the morning (10 a.m.) and two others (one physical and one mental) in the afternoon (3 p.m.). We found an enhancement of motor skill following both types of practice, whatever the time of the day, with a better acquisition for the physical than the mental group. Interestingly, there was a better consolidation for both groups when the training session was scheduled in the afternoon. Overall, our results indicate that the time-of-day positively influences motor skill consolidation and thus must be considered to optimize training protocols in sport and clinical domains to potentiate motor learning.


Asunto(s)
Destreza Motora , Examen Físico , Factores de Tiempo
3.
Sci Rep ; 11(1): 2295, 2021 01 27.
Artículo en Inglés | MEDLINE | ID: mdl-33504870

RESUMEN

It well-known that mental training improves skill performance. Here, we evaluated skill acquisition and consolidation after physical or motor imagery practice, by means of an arm pointing task requiring speed-accuracy trade-off. In the main experiment, we showed a significant enhancement of skill after both practices (72 training trials), with a better acquisition after physical practice. Interestingly, we found a positive impact of the passage of time (+ 6 h post training) on skill consolidation for the motor imagery training only, without any effect of sleep (+ 24 h post training) for none of the interventions. In a control experiment, we matched the gain in skill learning after physical training (new group) with that obtained after motor imagery training (main experiment) to evaluate skill consolidation after the same amount of learning. Skill performance in this control group deteriorated with the passage of time and sleep. In another control experiment, we increased the number of imagined trials (n = 100, new group) to compare the acquisition and consolidation processes of this group with that observed in the motor imagery group of the main experiment. We did not find significant differences between the two groups. These findings suggest that physical and motor imagery practice drive skill learning through different acquisition and consolidation processes.


Asunto(s)
Destreza Motora/fisiología , Neurociencias/métodos , Adulto , Fenómenos Biomecánicos , Electromiografía , Femenino , Humanos , Masculino , Desempeño Psicomotor/fisiología , Adulto Joven
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