Balance Training in Modern Dancers: Proprioceptive-Neuromuscular Training vs Kinesio Taping.

Kinesio tape and proprioceptive exercises are both used for increasing balance in dancers. The purposes of this study were to: a) determine the acute effect of kinesio tape (KT) application on the ankle joint on balance performance, b) investigate the effects of an 8-week proprioceptive-neuromuscular (PN) training program on balance performance, and c) compare their effects vs modern dance technique classes alone. Thirty-three trained, university-level modern dance students (9 male, 24 female) were divided randomly into three groups: kinesio tape (KT, n=11), proprioceptive-neuromuscular (PN, n=11), or control (n=11). Static (turn-out passé-opened eyes/relevé and turn-out passé-closed eyes/flat foot), semi-dynamic (airplane), and dynamic balance (monopodalic-straight and -transverse in a turn-out passé-eyes opened/flat foot) tests were performed before and after the intervention. One day after pre-tests, KT mechanical correction technique was applied to the left ankle joint (supporting leg) in the KT group, and tests were repeated to determine the acute effect of KT. The PN group participated in an 8-week balance training program (2 days/wk, 60 min/day) involving exercises using stable and unstable surfaces. Significant improvements were observed for all static and dynamic balance tests in the PN group; semi-dynamic airplane and dynamic monopodalic-straight and transverse tests improved in the KT group; and only semi-dynamic airplane test scores changed significantly for the control group (p<0.05). Our findings suggest that with the exception of the semi-dynamic airplane test, both PN training and KT application were more effective at improving balance performance for modern dancers than modern dance technique classes alone.

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil.

Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil. Haplotype analysis of this variant was consistent with a single founder. No other cases with this variant were detected among 105 simplex cases from other cities of northeastern Brazil, suggesting that this variant is confined to a geographical region. This study suggests that it is feasible to develop population-specific screening for deafness variants once causative variants are identified in different geographical groups.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity.

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes.

Extreme genetic heterogeneity along with remarkable variation in the distribution of causative variants across in different ethnicities makes single gene testing inefficient for hearing loss. We developed a custom capture/next-generation sequencing gene panel of 146 known deafness genes with a total target size of approximately 1 MB. The genes were identified by searching databases including Hereditary Hearing Loss Homepage, the Human Genome Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM) and most recent peer-reviewed publications related to the genetics of deafness. The design covered all coding exons, UTRs and 25 bases of intronic flanking sequences for each exon. To validate our panel, we used 6 positive controls with variants in known deafness genes and 8 unsolved samples from individuals with hearing loss. Mean coverage of the targeted exons was 697X. On average, each sample had 99.8%, 96.2% and 92.7% of the targeted region coverage of 1X, 50X and 100X reads, respectively. Analysis detected all known variants in nuclear genes. These results prove the accuracy and reliability of the custom capture experiment.

PULMONARY AND BIOCHEMICAL CHARACTERISTICS OF SMOKER AND NON-SMOKER MODERN DANCERS / CARACTERISTICAS PULMONARES E BIOQUÍMICAS DE DANÇARINOS MODERNOS FUMANTES E NÃO-FUMANTES / CARACTERÍSTICAS PULMOMARES Y BIOQUÍMICAS DE BAILARINAS MODERNAS FUMADORAS Y NO FUMADORAS

ABSTRACT Introduction: Although the harmful effects of smoking on the cardiovascular and respiratory systems have been established for a long time, the effect on physiological and physical parameters in modern female dancers is not well documented. Objective: To determine differences in selected pulmonary functions, biochemical parameters, and body composition in female smoker and non-smoker modern dancers who are university or graduate students. Methods: A total of twenty-two female modern dancers (mean age of 24.6 ± 4.3 years), who were non-smokers (n = 11) and smokers (n = 11), voluntarily participated in the study. The smokers had been smoking 1 to 20 cigarettes per day for an average period of seven years. The pulmonary function test Mir Spirobank Spirometer, (Italy) was applied; selected biochemical parameters were tested, and various anthropometric measurements (height, weight and seven skinfold thickness) were performed. The results of body composition were evaluated using Jackson-Pollock equations. Intergroup comparisons were performed using the Mann-Whitney U test. Result: No significant differences were found between smoker and non-smoker dancers in terms of body composition (body fat, % body fat, lean body fat) and selected biochemical parameters (p > 0.05). However, non-smokers had prediction values of forced expiratory volume during the first second (FEV1) and peak expiratory flow (PEF) significantly better (p < 0.05). The effect of smoking on the performance of female modern dancers should be examined in a longitudinal study, with a higher number of participants. Conclusion: It was observed that smoking reduces lung pulmonary capacity at a certain rate, although the biochemical parameters and body composition of the female smoker and non-smoker dancers were similar.

RESUMO Introdução: Embora os efeitos nocivos do fumo nos sistemas cardiovascular e respiratório tenham sido estabelecidos há muito, o efeito sobre os parâmetros fisiológicos e físicos em bailarinas de dança moderna não foi bem documentado ainda. Objetivo: Determinar as diferenças em funções pulmonares selecionadas, parâmetros bioquímicos e composição corporal em bailarinas de dança moderna fumadoras e não-fumadoras, universitárias e pós-universitárias. Métodos: Vinte e duas bailarinas de dança moderna (média de idade de 24,6 ± 4,3 anos), não fumantes (n = 11) e fumantes (n = 11), participaram voluntariamente no estudo. As fumantesconsumiram de 1 a 20 cigarros por dia durante uma média de sete anos. Foi aplicado o teste funcional pulmonar Mir Spirobank Spirometer, (Itália), alguns parâmetros biomédicos selecionados foram testados e foram realizadas várias medições antropométricas (altura, peso e sete espessuras de pregas cutâneas). Os resultados da composição corporal foram avaliados usando equações Jackson-Pollock. As comparações intergrupo foram realizadas usando o teste "U" de Mann-Whitney. Resultado: Não foram encontradas diferenças significativas entre as bailarinas fumantes e não fumantes quanto à composição corporal (gordura corporal, % massa gorda, massa corporal magra) e nos parâmetros bioquímicos selecionados (p > 0,05). No entanto, as não fumantes tinham valores de predição do volume expiratório forçado no primeiro segundo (VEF1) e pico de fluxo expiratório (PFE) significativamente melhores (p < 0,05). O efeito do tabagismo no desempenho de bailarinas de dança moderna deveria ser examinado num estudo longitudinal, com um maior número de participantes. Conclusão: Foi observado que o fumo reduz a capacidade pulmonar a uma certa taxa, embora os padrões bioquímicos e a composição corporal das bailarinas fumantes e não fumantes fossem semelhantes.

RESUMEN Introducción: Aunque los efectos nocivos del tabaco en los sistemas cardiovascular y respiratorio hayan sido establecidos hace mucho, el efecto sobre los parámetros fisiológicos y físicos en bailarinas de danza moderna no fue aún bien documentado. Objetivo: Determinar las diferencias en funciones pulmonares seleccionadas, parámetros bioquímicos y composición corporal en bailarinas de danza moderna fumadoras y no fumadoras, universitarias y post universitarias. Método: Veintidós bailarinas de danza moderna (edad promedio de 24,6 ± 4,3 años), no fumadoras (n=11) y fumadoras (n=11), participaron voluntariamente en el estudio. Las fumadoras habían fumado desde 1 hasta 20 cigarrillos por día durante un promedio de siete años. Fue aplicado el test funcional pulmonar espirómetro Mir Spirobank, (Italia), y fueron hechos algunos tests de parámetros biomédicos seleccionados y hechas varias mediciones antropométricas (altura, peso y siete espesores de los pliegues cutáneos). Los resultados de la composición corporal fueron evaluados usando ecuaciones Jackson-Pollock. Las comparaciones intergrupales fueron realizadas usando el test Mann-Whitney U. Resultado: No fueron encontradas diferencias significativas entre bailarinas fumadoras y no fumadoras en la composición corporal (grasa corporal, % de masa grasa, masa corporal magra) y en los parámetros bioquímicos seleccionados (p > 0,05). Sin embargo, las no fumadoras tuvieron valores de predicción del volumen espiratorio forzado en el primer segundo (VEF1) y del flujo espiratorio máximo (FEM) significativamente mejores (p < 0,05). El efecto del tabaco en el desempeño de bailarinas de danza moderna debería ser examinado en un estudio longitudinal, con un aumento del número de participantes. Conclusión: Se observó que el tabaco reduce la capacidad pulmonar a una cierta tasa, aunque los estándares bioquímicos y la composición corporal de las bailarinas fumadoras y no fumadoras fueron similares.

Effect of intermittent hypoxia on the cardiac HIF-1/VEGF pathway in experimental type 1 diabetes mellitus.

OBJECTIVE: High altitude and hypoxic preconditioning have cardioprotective effects by increasing coronary vascularity, reducing post-ischemic injury, and improving cardiac function. Our purpose was to examine if intermittent hypoxia treatment has any restoring effects related to the possible role of the HIF-1/VEGF pathway on diabetic cardiomyopathy. METHODS: Wistar Albino male rats (n=34) were divided into four groups: control (C), intermittent hypoxia (IH), diabetes mellitus (DM), and diabetes mellitus plus intermittent hypoxia (DM+IH). Following a streptozotocin (STZ) injection (50 mg/kg, i.p.), blood glucose levels of 250 mg/dL and above were considered as DM. IH and DM+IH groups were exposed to hypoxia 6 h/day for 42 days at a pressure corresponding to 3000 m altitude. Twenty-four hours after the IH protocol, hearts were excised. Hematoxylin and eosin-stained apical parts of the left ventricles were evaluated. Hypoxia inducible factor-1 (HIF-1), vascular endothelial growth factor 164 (VEGF164), and VEGF188 polymerase chain reaction products were run in agarose gel electrophoresis. Band density analysis of UV camera images was performed using Image J. The data were compared by one-way ANOVA, repeated measures two-way ANOVA, and the Kruskal-Wallis test. RESULTS: The percent weight change was lower in the DM group than in the controls (p=0.004). The tissue injury was the highest in the DM group and the least in the IH group. Diabetes decreased, whereas the IH treatment increased the vascularity. A decrease was observed in the VEGF188 mRNA levels in the DM+IH group compared with the C group, but there were no difference in HIF-1α and VEGF164 mRNA levels between the groups. CONCLUSION: The IH treatment restored the diabetic effects on the heart by reducing tissue injury and increasing the capillarity without transcriptional changes in HIF-1/VEGF correspondingly.

Spirometric obstruction and tobacco exposure among male Turkish nursing home residents.

Spirometric obstruction is a prevalent problem in older adults and related to life-style risk factors. Symptoms related to chronic-obstructive-pulmonary-disease (COPD) are also prevalent symptoms with diverse etiologies - not limited to pulmonary obstruction. Older adults may have unrecognized airway obstruction due to functional limitations or symptoms mis-attributed to age/other co-morbidities. Therefore, spirometric obstruction may clinically be over/under diagnosed. Over last few decades, the burden of smoking-related diseases has increased in older adults. Additional evidence regarding older adults is required. We aimed to study frequency of spirometric obstruction, its over/under diagnosis and tobacco exposure in a group of male nursing-home residents. For spirometric obstruction diagnosis, two different thresholds [(fixed value: 0.70) versus (age-corrected value: 0.65 in residents >65 years of age)] were compared for better clinical practice. One hundred and three residents with 71.4 ± 6.3 years-of-age included. Spirometric obstruction prevalences were 39.8 and 29.1% with fixed and age-corrected FEV1/FVC thresholds, respectively. Age-corrected FEV1/FVC threshold underdiagnosed COPD in 1.9% while fixed threshold overdiagnosed spirometric obstruction in 8.7%. Active smokers were 64.1%, ex-smokers 23.3% and non-smokers 12.6%. Our study suggests high prevalences of spirometric obstruction and smoking in male nursing-home residents in Turkey. We suggest the use of age-corrected FEV1/FVC threshold practicing better than the use of fixed FEV1/FVC threshold in this patient group.

Isokinetic strength profiles of thigh muscles of modern dancers in relation to their experience level.

UNLABELLED: The aim of this study was to determine maximal voluntary peak torque (PT), PT% body weight (PT%BW), total work (TW), and hamstring/quadriceps ratio (HQR) for bilateral and unilateral thigh muscle strength during isokinetic muscle contractions in modern dancers in relation to their experience level. METHODS: Twenty-two female dancers were divided into two groups: intermediate dancers (ID, n=11) and advanced dancers (AD, n=11). Strength tests were performed using the Biodex System-III Pro Multijoint System isokinetic dynamometer to determine three joint angular velocities (60, 180, 300°/s). RESULTS: During extension, ADs exhibited higher ratios in the HQR (p=0.016) on right leg at 300°/s, IDs generated greater TW (p=0.042), and within groups, there was a significant left-to-right difference in the HQR at 300°/s for ADs (p=0.042). During flexion, within groups, the ADs exhibited significant differences between legs for both PT (p=0.026) and PT%BW (p=0.022) at 300°/s. CONCLUSION: For both groups, the average HQR in all angular velocities was not within the recommended range, which is required to prevent injuries; at the same time, unilateral muscular imbalances existed. Lower extremities of ADs exhibited asymmetric strength patterns at a certain level. Further research should be done to confirm the findings of this pilot study.

The effects of acute and intermittent hypoxia on the expressions of HIF-1α and VEGF in the left and right ventricles of the rabbit heart.

OBJECTIVE: Hypoxia-inducible factor-1 alpha (HIF-1α) and vascular endothelial growth factor (VEGF) are involved in signaling mechanisms of cellular responses to hypoxia. These factors have been investigated in tissue samples by simulating different altitudes by changing the percentage of oxygen. We aimed first to evaluate the effect of normobaric, systemic hypoxia (11% O2) on HIF-1α and VEGF mRNA levels in the heart muscle; secondly, to compare the levels of HIF-1α and VEGF mRNA in the left and right ventricle muscles. METHODS: In this experimental study, 33 New Zealand male rabbits were assigned to control, acute hypoxia (4 hours) and intermittent hypoxia (4 hours/day for 14 days) groups (n=11/group). Total RNA was isolated from right and left ventricles of the heart. The expressions of HIF-1α and VEGF mRNAs were investigated by using Reverse Transcription Polymerase Chain Reaction (RT-PCR) method. The obtained data were compared by using ANOVA and paired t-test. RESULTS: The results indicated that left ventricle VEGF mRNA expressions in both acute and intermittent hypoxia groups (1.08 ± 0.15 and 1.03 ± 0.19, respectively) were higher than that in the control group (0.88 ± 0.15) (p=0.03). Hypoxia treatments did not significantly alter HIF-1α mRNA in both ventricles (p=0.60 and p=0.51 for left and right ventricles, respectively). CONCLUSION: Since systemic hypoxia results in induction of VEGF mRNA up-regulation only in left ventricle, it could be related to its higher metabolic activity and oxygen utilization. Hypoxia induced changes in the expression of HIF-1α mRNA may not be the only determining factor for HIF-1/VEGF pathway induction or the observed VEGF induction could be through other hypoxia sensitive pathways.

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.

Parkinson's disease (PD) has had six genome-wide association studies (GWAS) conducted as well as several gene expression studies. However, only variants in MAPT and SNCA have been consistently replicated. To improve the utility of these approaches, we applied pathway analyses integrating both GWAS and gene expression. The top 5000 SNPs (p<0.01) from a joint analysis of three existing PD GWAS were identified and each assigned to a gene. For gene expression, rather than the traditional comparison of one anatomical region between sets of patients and controls, we identified differentially expressed genes between adjacent Braak regions in each individual and adjusted using average control expression profiles. Over-represented pathways were calculated using a hyper-geometric statistical comparison. An integrated, systems meta-analysis of the over-represented pathways combined the expression and GWAS results using a Fisher's combined probability test. Four of the top seven pathways from each approach were identical. The top three pathways in the meta-analysis, with their corrected p-values, were axonal guidance (p = 2.8E-07), focal adhesion (p = 7.7E-06) and calcium signaling (p = 2.9E-05). These results support that a systems biology (pathway) approach will provide additional insight into the genetic etiology of PD and that these pathways have both biological and statistical support to be important in PD.

Genomic medicine and neurology.

The application of genetics to the understanding of neurology has been highly successful over the past several decades. During the past 10 years, tools were developed to begin genetic investigations into more common disorders such as Alzheimer disease, multiple sclerosis, autism, and Parkinson disease. The era of genomic medicine now has begun and will have an increasing effect on the daily care of common neurologic diseases. Thus it is important for neurologists to have a basic understanding of genomic medicine and how it differs from the traditional clinical genetics of the past. This article provides some basic information about genomic medicine and pharmacogenetics in neurology to help neurologists to begin to adopt these principles into their practice.

Hypoxia inducible factor 1 (HIF-1) and cardioprotection.

Since its discovery in early 1990s, hypoxia inducible factor 1 (HIF-1) has been increasingly recognized for its key role in transcriptional control of more than a hundred genes that regulate a wide-spectrum of cellular functional events, including angiogenesis, vasomotor control, glucose and energy metabolism, erythropoiesis, iron homeostasis, pH regulation, cell proliferation and viability. Evidence accumulated during the past 7 years suggests a critical role for HIF-1alpha in mediating cardioprotection. The purpose of our present article is to provide an updated overview on this important regulator of gene expression in the cellular stress-responsive and adaptive process. We have particularly emphasized the involvement of HIF-1 in the induction of cardioprotective molecules, such as inducible nitric oxide synthase (iNOS), hemeoxygenase 1 (HO-1), and erythropoietin (EPO), which in turn alleviate myocardial damages caused by harmful events such as ischemia-reperfusion injury. Despite these advances, further in-depth studies are needed to elucidate the possible coordination or interaction between HIF-1alpha and other key transcription factors in regulating protein expression that leads to cardioprotection.

Influence of knee osteoarthritis on exercise capacity and quality of life in obese adults.

OBJECTIVE: The objective was to determine whether knee osteoarthritis (OA) reduces exercise ambulatory capacity and impairs quality of life (QOL) in obese individuals. RESEARCH METHODS AND PROCEDURES: There were 56 subjects, with and without knee OA, who were obese. The subjects were evaluated with anthropometric measurements, a body composition assessment, maximal cardiopulmonary exercise test, 6-minute walk test (6-MWT), perceived exertion (RPE), self-reported disability [Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC)], and the Medical Outcomes Study Short Form 36 (SF-36). RESULTS: VO2peak was significantly higher in the controls when compared with the patients (mean +/- standard deviation, 1.584 +/- 0.23 L/kg per min vs. 0.986 +/- 0.20 L/kg per min; p < 0.001). Obese subjects without knee OA walked a significantly longer distance in the 6-MWT than obese patients with knee OA (p < 0.001). We also observed significant negative correlation between VO2max and RPE, WOMAC pain and physical limitation, and bodily pain and general health domains of short-form 36. DISCUSSION: Knee OA reduces exercise and ambulatory capacity and impairs QOL in obese individuals. RPE, WOMAC pain, and SF-36 items might provide information about exercise capacity in the obese subjects with knee OA. Our study confirms that exercise capacity and QOL might be improved by energetic and intensive treatment of pain resulting from knee OA.

Genetic deletion of fas receptors or Fas ligands does not reduce infarct size after acute global ischemia-reperfusion in isolated mouse heart.

Apoptosis has been shown in cardiac cells under divergent physiological and pathological conditions. However, there has been an ongoing debate upon the relative contribution of cardiomyocyte apoptosis to the myocardial infarct size after ischemia-reperfusion (I-R) injury. We tested the hypothesis that blocking the death receptor pathway of apoptosis through genetic deletion of Fas receptors or Fas ligands would reduce myocardial infarct size caused by acute I-R injury. The hearts isolated from Fas receptor or Fas ligand knockout (KO) mice as well as the C57BL/6J wild-type control mice (N = 6-8 per group) were subjected to 20 min of global ischemia and 30 min of reperfusion in Langendorff mode. Our results show that the infarct size, determined with triphenyltetrazolium chloride staining, was not significantly different between the three groups (i.e., 30.2 +/- 3.9% for wild-type controls, 30.0 +/- 2.1% for Fas ligand KOs, and 23.8 +/- 3.6% for Fas receptor KOs; mean +/- SEM, p > 0.05). Postischemic leakage of lactate dehydrogenase, another marker of necrotic cellular injury, also was not significantly different between these groups (p > 0.05). In addition, postischemic ventricular contractile function as well as coronary flow were similar for all the experimental groups (p > 0.05). In conclusion, contrary to our original hypothesis, the present study in the gene KO mice suggests that the Fas ligand- and Fas receptor-mediated death receptor pathway of apoptosis is not the primary determinant of myocardial infarct size and ventricular dysfunction caused by acute global I-R injury in the isolated perfused mouse heart.

Evidence that NOS2 acts as a trigger and mediator of late preconditioning induced by acute systemic hypoxia.

Chronic systemic hypoxia (SH) enhances myocardial ischemic tolerance in mammals. We studied the delayed cardioprotection caused by acute SH and associated signaling mechanism. Conscious adult male mice were exposed to one or two cycles of hypoxia (H; 10% O(2)) or normoxia (21% O(2)) for various durations (30 min, 2 h, 4 h) followed by 24 h of reoxygenation. Hearts were isolated 24 h later and subjected to ischemia-reperfusion in a Langendorff model. Infarct size was reduced in mice pretreated with one (H4h) or two cycles (H4hx2) of 4 h SH compared with normoxia mice (P < 0.05), which was abolished by an inducible nitric oxide synthase (NOS2) inhibitor (S-methylisothiourea, 3 mg/kg) given before SH or ischemia. H4hx2 also failed to reduce infarct size in NOS2 knockout mice. Cyclooxygenase-2 (COX-2) inhibitor (NS-398, 10 mg/kg) did not block the protection given either before H4hx2 or ischemia. A two- to three fold increase in myocardial NOS2 expression was observed in H4h, H2hx2, and H4hx2 (P < 0.05), whereas endothelial NOS (NOS3) or COX-2 remained unchanged. We conclude that acute SH induces delayed cardioprotection, which is triggered and mediated by NOS2, but not by NOS3 or COX-2.