KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.

INTRODUCTION: Long QT Syndrome (LQTS) is an inherited disease with an abnormal electrical conduction system in the heart that can cause sudden death as a result of QT prolongation. LQT2 is the second most common subtype of LQTS caused by loss of function mutations in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. Although more than 900 mutations are associated with the LQTS, many of these mutations are not validated or characterized. METHODS AND RESULTS: Sequencing analyses of genomic DNA of a family with LQT2 identified a putative mutation. i.e., KCNH2(NM_000238.3): c.3099_3112del, in KCNH2 gene which appeared to be a definite pathogenic mutation. The family pedigree information showed a gender difference in clinical features and T-wave morphology between male and female patients. The female with mutation exhibited recurring ventricular arrhythmia and syncope, while two male carriers did not show any symptoms. In addition, T-wave in females was much flatter than in males. The female proband showed a positive reaction to the lidocaine test. Lidocaine injection almost completely blocked ventricular arrhythmia and shortened the QT interval by ≥30 ms. Treatment with propranolol, mexiletine, and implantation of cardioverter-defibrillators prevented the sustained ventricular tachycardia, ventricular fibrillation, and syncope, as assessed by a 3-year follow-up evaluation. CONCLUSIONS: A putative mutation c.3099_3112del in the KCNH2 gene causes LQT2 syndrome, and the pathogenic mutation mainly causes symptoms in female progeny.

KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences

Abstract Introduction: Long QT Syndrome (LQTS) is an inherited disease with an abnormal electrical conduction system in the heart that can cause sudden death as a result of QT prolongation. LQT2 is the second most common subtype of LQTS caused by loss of function mutations in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. Although more than 900 mutations are associated with the LQTS, many of these mutations are not validated or characterized. Methods and results: Sequencing analyses of genomic DNA of a family with LQT2 identified a putative mutation. i.e., KCNH2(NM_000238.3): c.3099_3112del, in KCNH2 gene which appeared to be a definite pathogenic mutation. The family pedigree information showed a gender difference in clinical features and T-wave morphology between male and female patients. The female with mutation exhibited recurring ventricular arrhythmia and syncope, while two male carriers did not show any symptoms. In addition, T-wave in females was much flatter than in males. The female proband showed a positive reaction to the lidocaine test. Lidocaine injection almost completely blocked ventricular arrhythmia and shortened the QT interval by ≥30 ms. Treatment with propranolol, mexiletine, and implantation of cardioverter-defibrillators prevented the sustained ventricular tachycardia, ventricular fibrillation, and syncope, as assessed by a 3-year follow-up evaluation. Conclusions: A putative mutation c.3099_3112del in the KCNH2 gene causes LQT2 syndrome, and the pathogenic mutation mainly causes symptoms in female progeny.

Core muscle strength training of young soccer players / Treino de força muscular no core de jovens jogadores de futebol / Entrenamiento de la fuerza muscular en el core de jóvenes jugadores de fútbol

ABSTRACT Introduction Core strength training is a modern method of approach that matches the current demand for a more resilient physique on young players. Although it was initially conceived as complementary training to contribute to strength and agility, other benefits have been observed for soccer athletes nowadays. Among the under-explored benefits is the effect on the athletes' stability. Objective This article explores core training results on stability in young soccer players. Methods The theoretical applicability of basic stability training for young soccer players with core muscle strength training is discussed using mathematical statistics. The theoretical result is confronted with the practice of the controlled experiment on 18 young soccer players in 32 weeks with stabilization protocols. Results The fitness and soccer skills of the young men improved significantly (P<0.05). Conclusion Core strength training can promote the overall fitness of young soccer players. This training protocol for core strengthening achieves the primary goal of improving athletes' competitive ability and fitness. Evidence Level II; Therapeutic Studies - Investigating the results.

RESUMO Introdução O treino de força do core é um método moderno de abordagem que condiz com a atual exigência por um físico mais resistente sobre os jovens jogadores. Embora seja inicialmente concebido como um treino complementar para contribuir com a força e agilidade, atualmente tem se observado outros benefícios para os atletas de futebol. Dentre os benefícios pouco explorados está o efeito na estabilidade dos atletas. Objetivo Este artigo explora os resultados do treino básico do core na estabilidade sobre jovens jogadores de futebol. Métodos Discute-se por meio de estatísticas matemáticas a aplicabilidade teórica do treino básico de estabilidade aos jovens jogadores de futebol com o treino de força muscular do core. O resultado teórico é confrontado com a prática do experimento controlado em 18 jovens jogadores de futebol no período de 32 semanas com protocolos de estabilização. Resultados O preparo físico e as habilidades futebolísticas dos jovens melhoraram significativamente (P<0,05). Conclusão O treino de força central pode promover a aptidão geral dos jovens jogadores de futebol. Este protocolo de treino para fortalecimento do core atinge a meta principal de melhorar a capacidade competitiva e a aptidão física dos atletas. Nível de evidência II; Estudos Terapêuticos - Investigação de Resultados.

RESUMEN Introducción El entrenamiento de la fuerza del core es un método de enfoque moderno que se ajusta a la demanda actual de un físico más resistente en los jóvenes jugadores. Aunque inicialmente se concibió como un entrenamiento complementario para contribuir con la fuerza y la agilidad, hoy en día se han observado otros beneficios para los atletas de fútbol. Entre los beneficios poco explorados está el efecto sobre la estabilidad de los atletas. Objetivo Este artículo explora los resultados del entrenamiento del core en la estabilidad de los jóvenes futbolistas. Métodos Se discute la aplicabilidad teórica del entrenamiento de la estabilidad básica para jóvenes futbolistas con el entrenamiento de la fuerza de los músculos centrales por medio de la estadística matemática. El resultado teórico se confronta con la práctica del experimento controlado en 18 jóvenes futbolistas en el período de 32 semanas con protocolos de estabilización. Resultados La forma física y las habilidades futbolísticas de los jóvenes mejoraron significativamente (P<0,05). Conclusión El entrenamiento de la fuerza del núcleo puede promover el estado físico general de los jóvenes futbolistas. Este protocolo de entrenamiento para el fortalecimiento del núcleo logra el objetivo principal de mejorar la capacidad competitiva y la forma física de los atletas. Nivel de evidencia II; Estudios terapéuticos - Investigación de resultados.

The first outbreak of measles virus caused by imported genotype D8 in Jiangsu province of China.

Here we reported the outbreak of measles cases caused by the genotype D8 measles virus for the first time in Jiangsu province in China, which was possibly imported by a foreign student from Laos. Throat swab specimens were collected, and used to isolate virus. 634-bp fragment of the N gene and 1854-bp fragment of H gene were amplified by reverse transcription-PCR and sequenced, respectively. Phylogenetic results indicated that they belonged to genotype D8 measles virus. Further epidemiology investigation showed that the adults with D8 measles virus infection did not receive measles vaccine before having measles. In China, almost all D8 genotype MeV only infected those population without receiving measles vaccine immunization. Therefore, it is still necessary to implement the supplement activity of measles immunization target adult with immunity gap.

The first outbreak of measles virus caused by imported genotype D8 in Jiangsu province of China

ABSTRACT Here we reported the outbreak of measles cases caused by the genotype D8 measles virus for the first time in Jiangsu province in China, which was possibly imported by a foreign student from Laos. Throat swab specimens were collected, and used to isolate virus. 634-bp fragment of the N gene and 1854-bp fragment of H gene were amplified by reverse transcription-PCR and sequenced, respectively. Phylogenetic results indicated that they belonged to genotype D8 measles virus. Further epidemiology investigation showed that the adults with D8 measles virus infection did not receive measles vaccine before having measles. In China, almost all D8 genotype MeV only infected those population without receiving measles vaccine immunization. Therefore, it is still necessary to implement the supplement activity of measles immunization target adult with immunity gap.