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1.
J Clin Pathol ; 71(2): 180-184, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29021147

ABSTRACT

One of the major genetic insights into the pathogenesis of polycythaemia vera included the identification of the somatic point gain-of-function mutations in Janus kinase 2 gene-first JAK2V617F on exon 14, present in 95%-97% of the cases, and later on exon 12. In the literature, we can find some reported studies where different exon 12 mutations are identified. Unlike patients with JAK2V617F mutation in exon 14, the mutation at exon 12 is not usually associated with an increase in the three haematopoietic series (erythrocytosis, leucocytosis and thrombocytosis). It appears to be associated with a distinct syndrome, mostly characterised by isolated and more marked erythrocytosis, independently of the mutational variant. We report here the case of a patient who is JAK2exon 12 positive, presenting a novel mutation-c.1605G>T (p.Met535Ile)-associated with c.1612C>T (p.His538Tyr) mutation previously described, evidencing an atypical clinical phenotype.


Subject(s)
Janus Kinase 2/genetics , Point Mutation , Polycythemia Vera/diagnosis , Polycythemia Vera/genetics , Female , Genetic Markers , Humans , Middle Aged , Phenotype
2.
PLoS One ; 12(4): e0176426, 2017.
Article in English | MEDLINE | ID: mdl-28423015

ABSTRACT

[This corrects the article DOI: 10.1371/journal.pone.0167234.].

3.
PLoS One ; 11(12): e0167234, 2016.
Article in English | MEDLINE | ID: mdl-27907069

ABSTRACT

Short-term effects of barefoot and simulated barefoot running have been widely discussed in recent years. Consequences of adopting barefoot running for a long period, including as a training approach, still remain unknown. The present study evaluated the influence of 16 weeks of progressive barefoot running training on impact force and muscle activation in habitual shod runners. Six habitual shod runners (3 men and 3 women, 29.5 ± 7.3 years) were tested barefoot (BF) and shod (SH), before and after 16 weeks of progressive barefoot running training. Tests consisted of running on instrumented treadmill at 9 km/h, for 10 minutes in each experimental condition. Nine data acquisitions (10 s) of vertical ground reaction force (VGRF) and electromyographic (EMG) signal were conducted in each experimental condition for each test. BF training was effective to alter VGRF and EMG parameters of running in habitual shod runners, regardless of footwear condition (SH or BF). The magnitude of first peak of VGRF (Fy1) and the impulse of the first 50 ms decreased after training for BF and SH (p<0.01). The activation reduced from PRE to POST training for four muscles in BF running (p<0.001), whereas only muscle gastrocnemius lateralis decreased significantly its activation (p<0.01) in SH running. A 16-week progressive barefoot running training seems to be an effective training strategy to reduce impact force, improve shock attenuation and to decrease muscle activation intensity, not only in BF running, but also in SH running, although BF condition seems to be more influenced by BF training.

4.
Rev. bras. med. esporte ; 22(3): 182-185, graf
Article in English | LILACS | ID: lil-787692

ABSTRACT

ABSTRACT Introduction: The interest in minimalist and barefoot running is growing continuously. However, there is no data on how many runners drop out during this process. Objective: To describe the adhesion and dropout rates of a six-month instructed training program based on barefoot and minimalist footwear running. Methods: Thirty-four recreational runners participated in the study: 20 runners started the race training barefoot, while 14 runners were involved in training with minimalist footwear. Adhesion to intervention programs was evaluated through training spreadsheets and recording attendance at training sessions, while dropouts were evaluated at the end of training. A questionnaire was sent to participants who dropped out of the training, to obtain information related on why they had abandoned it. Results: Considering all participants (n=34), 41.2% of the runners completed six months with reduced plantar protection; 70% of all dropouts occurred in barefoot training; the main reasons for leaving the training were injury/pain (40%) and lack of time/suitable place for training (40%); and the majority of dropouts (50%) occurred in the first month of training. Barefoot training (n=20) showed 70% dropouts, 57.1% of them due to lack of time/suitable place for training; and 71.4% of the dropouts occurred in the first month of the intervention. The training with minimalist footwear (n=14) had fewer dropouts (42.9%) than the barefoot training, all of them due to injury/pain; 50% of them occurred in the third month of intervention. Conclusion: Dropouts usually occur at the beginning of training. Training involving barefoot running has more dropouts than training with minimalist footwear. Intervention programs lasting six months based on minimalist footwear/barefoot seems to have similar adhesion to other supervised exercise programs. The main reasons for dropping out are injury/pain and lack of time/suitable place to run.


RESUMO Introdução: O interesse acerca da corrida minimalista e descalça cresce continuamente. Contudo, não há dados sobre a evasão de corredores nesse processo. Objetivo: Descrever a adesão e a evasão de um programa de seis meses de treinamento instruído baseado na corrida descalça e em calçados minimalistas. Métodos: Trinta e quarto corredores recreacionais participaram do estudo: 20 corredores iniciaram o treinamento de corrida com os pés descalços, enquanto 14 se envolveram no treinamento com calçado minimalista. A adesão aos programas de intervenção foi verificada por intermédio de planilhas de treinamento e controle de presença nas sessões de treino, enquanto a evasão foi avaliada ao término do treinamento. Um questionário foi enviado aos participantes que saíram do treinamento, obtendo-se informações relacionadas ao abandono das intervenções. Resultados: Considerando-se todos os participantes (n = 34), 41,2% dos corredores finalizaram os seis meses de treinamento com proteção plantar reduzida; 70% das evasões ocorreram no treinamento descalço; as principais razões para abandonar o treinamento foram lesão/dor (40%) e ausência de tempo/local apropriado para o treinamento (40%) e a maioria das desistências (50%) ocorreu no primeiro mês de treinamento. O treinamento descalço (n = 20) apresentou 70% de evasão, sendo 57,1% devido à ausência de tempo/local apropriado para o treinamento; 71,4% da evasão ocorreu no primeiro mês de intervenção. O treinamento de corrida com calçado minimalista (n = 14) apresentou menor evasão (42,9%) que o treinamento descalço, sendo todas devido à lesão ou dor; 50% delas ocorreram no terceiro mês de intervenção. Conclusão: A evasão em geral ocorre no início do treinamento. A corrida descalça apresenta mais evasão do que a corrida com calçado minimalista. Os programas de intervenção que duram seis meses, baseados em calçado minimalista/pés descalços parecem ter adesão similar à de outros programas dirigidos de exercício. Os principais motivos para o abandono são lesão e dor e falta de tempo/local adequado para correr.


RESUMEN Introducción: El interés en la carrera minimalista y descalza crece continuamente. Sin embargo, no hay datos sobre la evasión de practicantes durante el proceso. Objetivo: Describir la adhesión y evasión de un programa de seis meses de entrenamiento instruido de carrera descalza y con calzado minimalista. Métodos: Treinta y cuatro corredores recreativos participaron en el estudio: 20 corredores comenzaron el entrenamiento en pies descalzos, mientras 14 hicieron el entrenamiento con el calzado minimalista. La adhesión a los programas de intervención se verificó a través de hojas de cálculo y control de la presencia en las sesiones de entrenamiento, mientras la evasión se evaluó al final del entrenamiento. Se envió un cuestionario a los participantes que abandonaron el entrenamiento para la obtención de información relacionada con el abandono de las intervenciones. Resultados: De todos los participantes (n = 34), el 41,2% de los corredores han completado seis meses de entrenamiento con protección plantar reducida; 70% de evasión se produjo en el entrenamiento descalzo; las principales razones para abandonar el entrenamiento fueron: lesión/dolor (40%) y la falta de tiempo/lugar adecuado para el entrenamiento (40%); la mayoría de abandonos (50%) ocurrieron en el primer mes de entrenamiento. El entrenamiento descalzo (n = 20) mostró 70% de evasión, con 57,1% debido a la falta de tiempo/lugar adecuado para entrenamiento; 71,4% de la evasión se produjo en el primer mes de la intervención. La carrera con el calzado minimalista (n = 14) mostró evasión más baja (42,9%) que el entrenamiento descalzo, todos los casos debiéndose a lesión o dolor; 50% de ellos se produjo en el tercer mes de la intervención. Conclusión: El abandono por lo general ocurre al comienzo del entrenamiento. La carrera descalza presenta más evasión que la carrera con calzado minimalista. Los programas de intervención con duración de seis meses y en base a carrera minimalista/descalza parecen que tienen evasión similar a otros programas de ejercicios supervisados. Las principales razones para el abandono son las lesiones y el dolor y la falta de tiempo y/o lugar adecuado para la carrera.

5.
Rev. bras. educ. fís. esp ; 27(4): 521-529, out.-dez. 2013. ilus
Article in English | LILACS | ID: lil-697245

ABSTRACT

The purpose of this study was to analyze the kinetic responses of running shoes submitted to prolonged use. Four shoes (R1, R2, T1 and T2) were used for 500 km except for T1 which was used for 1000 km. At every 100 km, Ground Reaction Force (GRF) and plantar pressure measurements were collected. In T2, there was a slight trend of increase in Loading Rate of the first peak of GRF with increasing distance. R1, R2 and T1 showed no trend of increase in Loading Rate values. Shoe T1 showed a slight tendency of increase in Loading Rate values when the distance was considered up to 1000 km. All running shoes showed a high variability in peak pressure values, but no trend of increase was observed. On the contrary, T1, T2 and R2 showed a trend of decrease in peak pressure values with increasing use. Therefore, there is no consistent evidence or trend of increase in Loading Rate and Peak Pressure values that would suggest worsening in external load attenuation.


O objetivo foi analisar as respostas dinâmicas em calçados de corrida submetidos ao uso prolongado. Quatro calçados (R1, R2, T1 e T2) foram submetidos ao uso prolongado na corrida. R1, R2 e T2 foram usados por 500 km e T1 por 1000 km. A cada 100 km, foram coletadas a Força de Reação do Solo e a pressão plantar. Em T2, houve uma ligeira tendência de aumento na taxa de crescimento do primeiro pico de força vertical (TC1) com o aumento da quilometragem de uso. R1, R2 e T1 não mostraram tendência de aumento nos valores de TC1. O calçado T1 apresentou uma ligeira tendência de aumento nos valores de TC1 nas quilometragens de uso até 1.000 km. Todos os calçados de corrida mostraram alta variabilidade nos valores de pico de pressão, mas sem tendência clara de aumento. Pelo contrário, T1, T2 e R2 mostraram uma tendência de diminuição dos valores da pressão de pico com quilometragens crescentes de uso. Portanto, não há nenhuma evidência consistente ou tendência de aumento de nos valores de TC1 ou de pico de pressão que pudesse sugerir piora na atenuação de carga externa.


Subject(s)
Humans , Adult , Athletes , Running , Shoes
6.
J Sports Sci ; 30(9): 929-35, 2012 May.
Article in English | MEDLINE | ID: mdl-22530777

ABSTRACT

Twelve participants ran (9 km · h(-1)) to test two types of running shoes: replica and original shoes. Ground reaction force, plantar pressure and electromyographic activity were recorded. The shoes were tested randomly and on different days. Comparisons between the two experimental conditions were made by analysis of variance (ANOVA) test (P ≤ 0.05). The time to first peak, loading rate of the first peak and impulse of the first 75 ms of stance were significantly different between the shoes (P ≤ 0.05), revealing an increase of impact forces for the replica shoes. The peak plantar pressure values were significantly higher (P ≤ 0.05) when wearing replica shoes. During running, the contact area was significantly smaller (P ≤ 0.05) for the replica shoe. The electromyographic activity of the analysed muscles did not show changes between the two shoes in running. These findings suggest that the use of replica running shoes can increase the external load applied to the human body, but may not change the muscle activity pattern during locomotion. This new mechanical situation may increase the risk of injuries in these movements.


Subject(s)
Foot/physiology , Muscle, Skeletal/physiology , Running/physiology , Shoes , Sports Equipment , Stress, Mechanical , Weight-Bearing/physiology , Adult , Analysis of Variance , Biomechanical Phenomena , Electromyography , Female , Humans , Male , Pressure , Task Performance and Analysis , Time , Young Adult
7.
Rev. bras. educ. fís. esp ; 25(4): 583-591, out.-dez. 2011. ilus
Article in Portuguese | LILACS | ID: lil-611282

ABSTRACT

The prolonged use of a running shoe is thought to affect the efficiency of its impact attenuation properties. However, its effect over biomechanical variables has yet not been well understood. The aim of this study was to examine the influence of running shoe usage on ground reaction force and plantar pressure parameters. Three male runners received four running shoes each to use at their training sessions. The Gaitway System was used to register the vertical component of the ground reaction force, whereas the contact area and peak plantar pressure at different regions of the foot were assessed via the the F-scan System. Data collection occurred at baseline (when the shoes were new - New) and after 100, 200 and 300km of use. The first peak decreased significantly from New to 300km (p < 0.01) and the loading rate showed a significant decrease at 200km in relation to the New condition (p < 0.01). Total area increased significantly from New to 100km (p < 0.01) of use and maintained a similar value when compared with the other conditions. There was a continuous and significant decrease (p < 0.01) on forefoot peak pressure as the mileage increased from New to 300km. The hallux peak pressure values were significantly smaller (p < 0.01) at 300km when compared with the New condition. Considering that the first peak, loading rate and plantar peak pressure values did not increase and that the plantar total contact area increased, it can be concluded that the running shoe did not suffer consistent alterations in ground reaction force and in plantar pressure after 300km of use.


Acredita-se que a eficiência do calçado seja afetada pelo uso prolongado, mas as alterações biomecânicas ainda não estão bem compreendidas. O objetivo deste estudo é analisar a influência do uso de calçados de corrida na força de reação do solo e os parâmetros de pressão plantar. Três corredores do sexo masculino receberam quatro calçados de corrida para usarem em suas sessões de treinamento. O Sistema Gaitway e o Sistema de F-scan foram usados para registrar a força de reação do solo e parâmetros pressão plantar em diferentes regiões do pé. As coletas ocorreram em quatro momentos: novo e 100, 200 e 300 km de uso. O primeiro pico diminuiu da condição novo para os 300 km de uso (p < 0,01). A taxa de crescimento 1 diminuiu aos 200 km em relação às condições novas (p < 0,01). A área total aumentou aos 100 km (p < 0,01) de uso e manteve valores semelhantes e mais altos até 300km. No pico de pressão antepé, houve uma diminuição progressiva (p < 0,01) como o aumento quilometragem e os valores de pico de pressão do hálux foram significativamente menores (p < 0,01) aos 300 km do que na condição novo. Como o primeiro pico, a taxa de crecimento 1 e os picos de pressão plantar não aumentaram e a área de contato plantar total aumentou. Conclui-se que o calçado de corrida não sofreu alterações consistentes na força de reação do solo e na pressão plantar após 300 km de uso.


Subject(s)
Humans , Male , Adult , Biomechanical Phenomena , Running
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