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.

Screening and analysis of prognostic factors of repairing single missing tooth by autotransplantation of teeth / 中华口腔医学杂志

Objective: To screen and analyze the factors affecting the prognosis of replacing single missing tooth by autograft tooth, so as to provide reference for clinical judgment of surgical prognosis. Methods: A total of 176 patients (188 teeth) underwent autotransplantation of teeth in the Department of Oral & Maxillofacial Surgery, School of Stomatology, The Fourth Military Medical University from January 2017 to December 2019, including 85 teeth of males and 103 teeth of females were involved. The age was (33.0±9.8) years (16-65 years). The possible factors affecting the prognosis of replacing single missing tooth by autograft tooth were summarized and grouped, and the clinical and imaging data were recorded and judged. The surgical records and photographic data from the patients' previous medical records were retrospectively analyzed. The survival analysis method was used for statistical analysis to screen out the factors affecting the cumulative survival rate of transplanted teeth. Results: The 5-year cumulative survival rate of 188 transplanted teeth was 88.4%. Univariate Log-Rank analysis showed that age (P<0.001), sex (P=0.008), smoking (P<0.001), position of recipient area (P<0.001), height of alveolar bone in recipient area (P<0.001), time of donor tooth in vitro (P<0.001), use of donor model (P<0.001) and initial stability (P<0.001) were significantly correlated with cumulative survival rate of transplanted teeth. Multivariate Cox proportional hazard regression analysis showed that smoking (β=-2.812, P=0.049), alveolar bone height (β=1.521, P=0.020), donor time (β=-2.001, P=0.019), use of donor model (β=1.666, P=0.034) and initial stability (β=-1.417, P=0.033) were significantly correlated with the cumulative survival rate of transplanted teeth. Conclusions: The prognosis of autogenous tooth transplantation can be predicted by smoking, height of alveolar bone in recipient area, time of donor teeth in vitro, use of donor model and initial stability. Good prognosis of transplanted teeth can be obtained by using donor model during operation, reducing the time of donor teeth in vitro, taking effective methods to restore alveolar bone height, maintaining good initial stability, and good oral health education after operation.

Tumor-killing effects of CD19 and CD22 bi-specific CAR-T cells on tumor cells / 中国肿瘤生物治疗杂志

@#[摘 要] 目的：设计并制备一种分别靶向B细胞表面抗原CD19和CD22的CAR-T细胞，检测其对肿瘤细胞的体内外杀伤效果。方法：将含有人源化 CD19 ScFv的二代CAR分子和带有CD3ε链作为共刺激结构域的CD22 ScFv CAR分子以P2A自剪切肽连接，序列连接于慢病毒载体pLTR-CMV-MCS中，以HEK-293T细胞包装相应的慢病毒载体，感染健康志愿者提供的T细胞制备CAR-19-22-T细胞，同时以相同二代结构分别构建单靶向CAR-T细胞作为参照。构建表达荧光素酶、CD19和/或CD22的前列腺癌3M细胞（靶细胞）。将各种CAR-T细胞与靶细胞共同培养，采用荧光素酶化学发光法和ELISA法检测其对靶细胞的杀伤能力和细胞因子的分泌水平。通过尾静脉注射Raji-Luc细胞构建NOD-SCID免疫缺陷小鼠白血病模型，分别注射各组CAR-T细胞进行治疗并评估其疗效。结果：培养7 d的CAR-19-22-T细胞的CAR-19表达率为13.7%，CAR-22表达率为14.3%。CAR-19-22-T细胞在10∶1效靶比时，对3M-CD19-Luc、3M-CD22-Luc和3M-CD19-CD22-Luc细胞的杀伤率均显著高于T细胞[（78.1±14.4）% vs （11.1±4.3）%、（46.7±10.7）% vs （12.4±2.7）%、（90.5±4.3）% vs （14.3±3.7）%，均P<0.01]；与3M-CD19-Luc、3M-CD22-Luc、3M-CD19-CD22-Luc靶细胞共培养后，CAR-19-22-T细胞IFN-γ、TNF-α和IL-2水平均显著低于CAR-19-T和CAR-22-T细胞（P<0.05或P<0.01）。CAR-19-22-T细胞对移植Raji-Luc细胞模型小鼠治疗效果明显，其生存期显著长于T细胞组（P<0.01），与CAR-19-T组和CAR-22-T组荷瘤小鼠比较差异均无统计学意义（均P>0.05）。结论：成功设计并制备了一种双靶点CAR-19-22-T细胞，其能够有效杀伤表达CD19和/或CD22抗原的肿瘤细胞，对Raji-Luc细胞的白血病模型小鼠有显著的治疗效果。

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.

Effect of the acquisition pattern for nutritional knowledge on food collocation among students / 中国学校卫生

Objective@#To learn the effect of the acquisition pattern of nutritional knowledge on food collocation among the university students, and to provide a reference for conducting college students to acquire right nutritional knowledge, establish a good diet habit, and improve their mental and physical health.@*Methods@#Totally 1 697 students were selected from 2 universities in Jiangsu Province with the random clustering method after the informed consent. It was investigated with anonymous questionnaire for the source of nutritional knowledge, the knowledge about food collocation, the consideration during food collocation and the food collocation behavior. The sources of nutrition knowledge were then sorted into different patterns by factor analysis. The influence of each pattern on the food collocation was analyzed.@*Results@#The main patterns for nutritional knowledge of the students were net-media, book-net, companion, family and private experience. The correct rate was higher in the students who gained knowledge from book-net pattern (71.8%) than that of the other patterns. The proportion was significantly higher for the consideration of nutrition(95.0%), the collocation between foods with different colors (58.1%)or between the cereals and soybeans(70.6%)in the book-net pattern than that in the companion(83.7%,48.4%,55.9%), family(85.9%,41.7%,49.0%)or private experience(53.3%,31.1%,37.8%)pattern, but the rate of food collocation according to price was relatively lower(76.0%). The proportion was significantly higher for consideration about nutrition(92.2%)during food collocation in the net-media pattern than that in the private experience(53.3%)or companion(83.7%) pattern, and the proportion was higher for the consideration of characteristics of food in various colors(73.8%) than that in the other patterns, too; however, the proportion of consideration for economy(87.7%)was also significantly higher, and the proportion was obviously higher in the net-media pattern for the collocation between grains and flours(67.5%), food with different colors(70.8%), while the proportion was significantly higher in the net-media pattern for the collocation between cereals and soybeans(72.3%)than that in the companion(55.9%), family(49.0%)or private experience(37.8%) patterns, but the proportion was also obviously higher in the net-media pattern for the collocation according to the price(83.4%) than that in the family pattern(71.8%).@*Conclusion@#The book-net pattern can rationally lead the students to make reasonable food collocation.

Lumbopelvic Fixation and Sacral Decompression for U-shaped Sacral Fractures: Surgical Management and Early Outcome / 华中科技大学学报（医学）（英德文版）

U-shaped sacral fractures are rare and often difficult to diagnose primarily due to the difficulty in obtaining adequate imaging and the severe associated injuries.These fractures are highly unstable and frequently cause neurological deficits.The majority of surgeons have limited experience in management of U-shaped sacral fractures.No standard treatment protocol for U-shaped sacral fractures has been available till now.This study aimed to examine the management of U-shaped sacral fractures and the early outcomes.Clinical data of 15 consecutive patients with U-shaped sacral fracture who were admitted to our trauma center between 2009 and 2014 were retrospectively analyzed.Demographics,fracture classification,mechanism of injury and operative treatment and deformity angle were assessed.All the patients were treated with lumbopelvic fixation or (and) sacral decompression.EQ-5d score was applied to evaluate the patients' quality of life.Of the 15 consecutive patients with U-shaped sacral fracture,the mean age was 28.8 years (range:15-55 years) at the time of injury.There were 6 females and 9 males.The mean followup time was 22.7 months (range:9-47 months) and mean full weight-bearing time was 9.9 weeks (range:8-14 weeks).Ten patients received lumbopelvic fixation and sacral decompression,one lombosacral fixation,and 4 merely sacral decompression due to delayed diagnosis or surgery.The post-operation deformity angle (mean 27.87°,and range:8°-90°) of the sacrum was smaller than that pre-operation (mean 35.67;range:15-90) with no significance difference noted.At the latest follow-up,all patients obtained neurological recovery with different extents.Visual analogue score (VAS) was reduced from preoperative 7.07 (range:5-9) to postoperetive 1.93 (range:1-3).All patients could walk without any aid after treatment.Eight patients were able to care for themselves and undertook some daily activities.Five patients had returned to work full time.In conclusion,lumbopelvic fixation is an effective method for stabilization of U-shaped sacral fractures with fewer complications developed.Effective reduction and firm fixation are the prerequisite of early mobilization and neurological recovery.Sacral decompression effectively promotes neurological recovery even in patients with old U-shaped sacral fractures.

Lumbopelvic Fixation and Sacral Decompression for U-shaped Sacral Fractures: Surgical Management and Early Outcome / 华中科技大学学报（医学）（英德文版）

U-shaped sacral fractures are rare and often difficult to diagnose primarily due to the difficulty in obtaining adequate imaging and the severe associated injuries.These fractures are highly unstable and frequently cause neurological deficits.The majority of surgeons have limited experience in management of U-shaped sacral fractures.No standard treatment protocol for U-shaped sacral fractures has been available till now.This study aimed to examine the management of U-shaped sacral fractures and the early outcomes.Clinical data of 15 consecutive patients with U-shaped sacral fracture who were admitted to our trauma center between 2009 and 2014 were retrospectively analyzed.Demographics,fracture classification,mechanism of injury and operative treatment and deformity angle were assessed.All the patients were treated with lumbopelvic fixation or (and) sacral decompression.EQ-5d score was applied to evaluate the patients' quality of life.Of the 15 consecutive patients with U-shaped sacral fracture,the mean age was 28.8 years (range:15-55 years) at the time of injury.There were 6 females and 9 males.The mean followup time was 22.7 months (range:9-47 months) and mean full weight-bearing time was 9.9 weeks (range:8-14 weeks).Ten patients received lumbopelvic fixation and sacral decompression,one lombosacral fixation,and 4 merely sacral decompression due to delayed diagnosis or surgery.The post-operation deformity angle (mean 27.87°,and range:8°-90°) of the sacrum was smaller than that pre-operation (mean 35.67;range:15-90) with no significance difference noted.At the latest follow-up,all patients obtained neurological recovery with different extents.Visual analogue score (VAS) was reduced from preoperative 7.07 (range:5-9) to postoperetive 1.93 (range:1-3).All patients could walk without any aid after treatment.Eight patients were able to care for themselves and undertook some daily activities.Five patients had returned to work full time.In conclusion,lumbopelvic fixation is an effective method for stabilization of U-shaped sacral fractures with fewer complications developed.Effective reduction and firm fixation are the prerequisite of early mobilization and neurological recovery.Sacral decompression effectively promotes neurological recovery even in patients with old U-shaped sacral fractures.

Globin gene induction therapy for β-thalassemia / 中国实验血液学杂志

Globin gene induction therapy is a new treatment under study for β-thalassemia. This review summarizes the research progress on the mechanisms of globin gene induction therapy for β-thalassemia and current γ-globin gene induction medicines.