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1.
J Neuroophthalmol ; 41(4): 424-430, 2021 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-32868577

RESUMEN

BACKGROUND: Given the widely distributed network of midbrain, pontine, cerebellar, and cortical areas involved in the neural control of vergence, one might expect various vergence deficits in stroke patients. In this article, we investigated the localizing value of bedside vergence testing with respect to different supratentorial and infratentorial infarction locations. METHODS: Three hundred five stroke patients and 50 age-matched controls were examined prospectively by means of bedside tests to assess slow and fast binocular (i.e., symmetrical) as well as slow and fast monocular (i.e., asymmetrical) convergence. Infarction locations, as identified on MRI, were correlated with vergence performance using multinomial logistic regression. RESULTS: Vergence deteriorated with age in both stroke patients and healthy controls. Most infarction locations did not show significant associations with vergence parameters, apart from cases with parietal lobe lesions, which exhibited insufficient asymmetrical, slow and fast vergence for both the left and the right eye. Finally, patients with severe ischemic small vessel disease showed a slight but significant decrease in their fast binocular vergence performance. CONCLUSIONS: There is only a limited localizing value of vergence deficits in stroke. Parietal lobe infarctions are more frequently associated with insufficient binocular and monocular vergence. Midbrain strokes were too few to draw final conclusions. However the most robust factor to emerge from our data is age. Older subjects show poor slow binocular as well as slow and fast monocular vergence. Extended white matter lesions are also correlated with deficient vergence ability suggesting a role for subcortical wide range connections in maintaining an intact vergence circuitry.


Asunto(s)
Puente , Accidente Cerebrovascular , Cerebelo , Humanos , Imagen por Resonancia Magnética , Puente/patología , Movimientos Sacádicos , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnóstico , Visión Binocular
2.
J Strength Cond Res ; 33(9): 2388-2397, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28737590

RESUMEN

Methenitis, S, Spengos, K, Zaras, N, Stasinaki, A-N, Papadimas, G, Karampatsos, G, Arnaoutis, G, and Terzis, G. Fiber type composition and rate of force development in endurance- and resistance-trained individuals. J Strength Cond Res 33(9): 2388-2397, 2019-The purpose of the study was to investigate the relationship between muscle fiber composition and the rate of force development (RFD) in well-trained individuals with different training background. Thirty-eight young men with different training background participated: 9 endurance runners, 10 power-trained individuals, 9 strength-trained individuals, and 10 sedentary individuals. They performed maximal isometric leg press for the measurement of RFD. Body composition (dual x-ray absorptiometry) and vastus lateralis fiber type composition were also evaluated. When all participants were examined as a group, moderate correlations were found between the percent of type II muscle fibers and RFD between 100 and 600 milliseconds (r = 0.321-0.497; p ≤ 0.05). The correlation coefficients were higher for the cross-sectional area (CSA) and the %CSA of type II and IIx muscle fibers (r = 0.599-0.847; p < 0.001). For the power group, RFD up to 250 milliseconds highly correlated with % type IIx muscle fibers and type IIx fiber CSA (r = 0.670-0.826; p ≤ 0.05), as well as with %CSA of type IIx fibers (r = 0.714-0.975; p ≤ 0.05). Significant correlations were found between the relative RFD (·kg lower extremities lean mass) and CSA-%CSA of type II and IIx fibers for the power group (r = 0.676-0.903; p ≤ 0.05). No significant correlations were found between muscle morphology and RFD for the other groups. In conclusion, the present data suggest that there is a strong link between the type IIx muscle fibers and early RFD and relative RFD in power-trained participants. Type II fibers seem to be moderately linked with RFD in non-power-trained individuals.


Asunto(s)
Entrenamiento Aeróbico , Fuerza Muscular , Músculo Cuádriceps/citología , Músculo Cuádriceps/fisiología , Entrenamiento de Fuerza , Adulto , Composición Corporal , Humanos , Contracción Isométrica , Masculino , Fibras Musculares de Contracción Rápida/citología , Carrera/fisiología , Levantamiento de Peso/fisiología , Adulto Joven
3.
J Stroke Cerebrovasc Dis ; 26(12): 2769-2777, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28756905

RESUMEN

BACKGROUND AND OBJECTIVE: Diabetes mellitus is associated with an increased risk of stroke and poor outcome following a stroke event. We assessed the impact of discharge treatment with aspirin versus clopidogrel on the 10-year survival of patients with type 2 diabetes after a first-ever noncardioembolic acute ischemic stroke (AIS). METHODS: This was a post hoc analysis of the Athens Stroke Outcome Project. Study outcomes included death, stroke recurrence, and a composite cardiovascular disease (CVD) end point (recurrent stroke, myocardial infarction, unstable angina, coronary revascularization, aortic aneurysm rupture, or sudden death). Kaplan-Meier survival curve and Cox regression analyses were performed. RESULTS: A total of 304 (93 women) diabetic patients receiving either aspirin (n = 197) or clopidogrel (n = 107) were studied. The 10-year survival was better in clopidogrel-treated patients than in aspirin-treated patients (19 deaths [17.7%] for clopidogrel versus 55 deaths [27.9%] for aspirin; log-rank test: 4.91, P = .027). Similarly, clopidogrel was associated with a favorable impact on recurrent stroke (12 events [11.2%] for clopidogrel versus 39 events [19.7%] for aspirin; log-rank test: 4.46, P = .035) and on the composite CVD end point (21 events [19.6%] for clopidogrel versus 54 events [27.4%] for aspirin; log-rank test: 4.17, P = .041). In the multivariable analysis, the beneficial effect of clopidogrel over aspirin on both primary and secondary end points was independent of age, gender, the presence of CVD or CVD risk factors, and stroke severity. CONCLUSIONS: Our findings indicate a favorable effect of clopidogrel at discharge compared with aspirin in preventing death, recurrent stroke, and CVD events in diabetic patients with a first-ever noncardioembolic AIS.


Asunto(s)
Aspirina/uso terapéutico , Isquemia Encefálica/tratamiento farmacológico , Diabetes Mellitus Tipo 2 , Inhibidores de Agregación Plaquetaria/uso terapéutico , Prevención Secundaria/métodos , Accidente Cerebrovascular/tratamiento farmacológico , Ticlopidina/análogos & derivados , Anciano , Anciano de 80 o más Años , Aspirina/efectos adversos , Isquemia Encefálica/sangre , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/mortalidad , Distribución de Chi-Cuadrado , Clopidogrel , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/mortalidad , Femenino , Grecia/epidemiología , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Alta del Paciente , Inhibidores de Agregación Plaquetaria/efectos adversos , Modelos de Riesgos Proporcionales , Factores Protectores , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/sangre , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/mortalidad , Ticlopidina/efectos adversos , Ticlopidina/uso terapéutico , Factores de Tiempo , Resultado del Tratamiento
4.
Int J Mol Sci ; 18(12)2017 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-29244749

RESUMEN

Patients with non-transfusion-dependent thalassemia (NTDT) are at risk of developing brain ischemia. Transcranial Doppler (TCD) has been established as a useful screening tool of cerebrovascular disease in patients with sickle cell disease. Proteins neuron specific enolase (NSE) and S100B are biomarkers that reflect CNS injury. The purpose of this study is to evaluate cerebral vessel vasculopathy and brain damage in NTDT patients using non-invasive methods as TCD and measurement serum levels of NSE and S100B. We included in our study 30 patients with NTDT, aged between 8 and 62 years old (mean: 29.4, median: 32) who presented in our Unit for regular follow-up. We performed in all patients a non-imaging TCD examination and have measured serum S100, NSE and lactate dehydrogenase (LDH) levels. We investigated the possible correlation between TCD results and S100B, NSE and LDH levels as well as between NSE-LDH and S100B-LDH levels by regression analysis. We found a statistically significant relationship for both NSE, S100B with LDH. We also found a statistically significant relationship for S100B and time-averaged mean velocity (TAMV)/peak velocity of left middle cerebral artery (MCA), NSE and pulsatility index (PI)/resistive index (RI) of the left posterior cerebral artery (PCA). TCD results correlated with biomarkers for brain ischemia. This finding enhances the role of TCD as a screening tool for brain ischemia in patients with NTDT.


Asunto(s)
Isquemia Encefálica/sangre , Fosfopiruvato Hidratasa/sangre , Subunidad beta de la Proteína de Unión al Calcio S100/sangre , Talasemia/sangre , Adolescente , Adulto , Biomarcadores/sangre , Isquemia Encefálica/diagnóstico por imagen , Isquemia Encefálica/fisiopatología , Trastornos Cerebrovasculares/sangre , Trastornos Cerebrovasculares/diagnóstico por imagen , Trastornos Cerebrovasculares/fisiopatología , Niño , Femenino , Humanos , L-Lactato Deshidrogenasa/sangre , Masculino , Persona de Mediana Edad , Talasemia/diagnóstico por imagen , Talasemia/fisiopatología , Ultrasonografía Doppler Transcraneal , Adulto Joven
5.
J Stroke Cerebrovasc Dis ; 25(12): 2975-2980, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27612625

RESUMEN

BACKGROUND: There is increasing debate whether atrial fibrillation (AF) episodes during follow-up in patients with embolic stroke of undetermined source (ESUS) are causally associated with the event. AF-related strokes are more severe than strokes of other etiologies. In this context, we aimed to compare stroke severity between ESUS patients diagnosed with AF during follow-up and those who were not. We hypothesized that, if AF episodes detected during follow-up are indeed causally associated with the index event, stroke severity in the AF group should be higher than the non-AF group. METHODS: Dataset was derived from the Athens Stroke Registry. ESUS was defined by the Cryptogenic Stroke/ESUS International-Working-Group criteria. Stroke severity was assessed by the National Institutes of Health Stroke Scale (NIHSS) score. Cumulative probabilities of recurrent stroke or peripheral embolism in the AF and non-AF ESUS groups were estimated by Kaplan-Meier analyses. RESULTS: Among 275 ESUS patients, AF was detected during follow-up in 80 (29.1%), either during repeated electrocardiogram monitoring (18.2%) or during hospitalization for stroke recurrence (10.9%). NIHSS score was similar between the two groups (5 [2-13] versus 5 [2-14], P = .998). More recurrent strokes or peripheral embolisms occurred in the AF group compared with the non-AF group (42.5% versus 13.3%, P = .001). CONCLUSIONS: Stroke severity is similar between ESUS patients who were diagnosed with AF during follow-up and those who were not. Given that AF-related strokes are more severe than strokes of other etiologies, this finding challenges the assumption that the association between ESUS and AF detected during follow-up is as frequently causal as regarded.


Asunto(s)
Fibrilación Atrial/epidemiología , Embolia Intracraneal/epidemiología , Accidente Cerebrovascular/epidemiología , Anciano , Fibrilación Atrial/diagnóstico , Evaluación de la Discapacidad , Electrocardiografía , Femenino , Grecia/epidemiología , Humanos , Embolia Intracraneal/diagnóstico , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Pronóstico , Modelos de Riesgos Proporcionales , Recurrencia , Sistema de Registros , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/diagnóstico , Factores de Tiempo
6.
J Strength Cond Res ; 30(3): 807-17, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26907845

RESUMEN

The aim of the study was to examine the correlation between muscle morphology and jumping, sprinting, and throwing performance in participants with different power training duration experience. Thirty-six power-trained young men were assigned to 3 groups according to the length of their power training: less experienced (<1 year), moderately experienced (1-3 years), and experienced (4-7 years). All participants performed countermovement and squat jumps, 60-m sprint, and shot throws twice. Lean body mass (LBM) was evaluated with dual-energy x-ray absorptiometry and thigh muscle cross-sectional area (CSA) with anthropometry. The vastus lateralis architecture and fiber type composition were evaluated with ultrasonography and muscle biopsies, respectively. When all subjects were considered as 1 group (n = 36), jumping performance was correlated with LBM, fascicle length, and type II fiber CSA; sprinting performance was correlated with estimated thigh muscle CSA alone; and shot throwing was correlated with LBM and type I, IIA fiber CSA. In the least experienced group, the LBM of the lower extremities was the most significant contributor for power performance, whereas in the moderately experienced group, the LBM, architectural properties, and type II fiber percentage CSA were the most significant contributors. For the experienced group, fascicle length and type II fiber percentage CSA were the most significant factors for power performance. These data suggest that jumping performance is linked with muscle morphology, regardless of strength or power training. The vastus lateralis muscle morphology could only partially explain throwing performance, whereas it cannot predict sprinting performance. Power performance in experienced participants rely more on the quality of the muscle tissue rather than the quantity.


Asunto(s)
Rendimiento Atlético/fisiología , Ejercicio Físico/fisiología , Fibras Musculares de Contracción Rápida/citología , Músculo Cuádriceps/anatomía & histología , Entrenamiento de Fuerza , Absorciometría de Fotón , Adolescente , Adulto , Composición Corporal , Prueba de Esfuerzo , Humanos , Masculino , Fibras Musculares de Contracción Rápida/diagnóstico por imagen , Músculo Cuádriceps/diagnóstico por imagen , Músculo Cuádriceps/fisiología , Carrera/fisiología , Factores de Tiempo , Ultrasonografía , Adulto Joven
7.
J Strength Cond Res ; 30(1): 81-92, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26049793

RESUMEN

The rate of force development (RFD) is an essential component for performance in explosive activities, although it has been proposed that muscle architectural characteristics might be linked with RFD and power performance. The purpose of the study was to investigate the relationship between RFD, muscle architecture, and performance in young track and field throwers. Twelve young track and field throwers completed 10 weeks of periodized training. Before (T1) and after (T2) training performance was evaluated in competitive track and field throws, commonly used shot put tests, isometric leg press RFD, 1 repetition maximum (1RM) strength as well as vastus lateralis architecture and body composition. Performance in competitive track and field throwing and the shot put test from the power position increased by 6.76 ± 4.31% (p < 0.001) and 3.58 ± 4.97% (p = 0.019), respectively. Rate of force development and 1RM strength also increased (p ≤ 0.05). Vastus lateralis thickness and fascicle length increased by 5.95 ± 7.13% (p = 0.012) and 13.41 ± 16.15% (p = 0.016), respectively. Significant correlations were found at T1 and T2, between performance in the shot put tests and both RFD and fascicle length (p ≤ 0.05). Close correlations were found between RFD, muscle thickness, and fascicle length (p ≤ 0.05). Significant correlations were found between the % changes in lean body mass and the % increases in RFD. When calculated together, the % increase in muscle thickness and RFD could predict the % increase in shot put throw test from the power position (p = 0.019). These results suggest that leg press RFD may predict performance in shot put tests that are commonly used by track and field throwers.


Asunto(s)
Rendimiento Atlético/fisiología , Músculo Cuádriceps/anatomía & histología , Músculo Cuádriceps/fisiología , Atletismo/fisiología , Adolescente , Adulto , Composición Corporal , Prueba de Esfuerzo , Femenino , Humanos , Masculino , Tamaño de los Órganos , Acondicionamiento Físico Humano/fisiología , Adulto Joven
8.
Stroke ; 46(1): 176-81, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25378429

RESUMEN

BACKGROUND AND PURPOSE: A new clinical construct termed embolic stroke of undetermined source (ESUS) was recently introduced, but no such population has been described yet. Our aim is to provide a detailed descriptive analysis of an ESUS population derived from a large prospective ischemic stroke registry using the proposed diagnostic criteria. METHODS: The criteria proposed by the Cryptogenic Stroke/ESUS International Working Group were applied to the Athens Stroke Registry to identify all ESUS patients. ESUS was defined as a radiologically confirmed nonlacunar brain infarct in the absence of (a) extracranial or intracranial atherosclerosis causing ≥50% luminal stenosis in arteries supplying the ischemic area, (b) major-risk cardioembolic source, and (c) any other specific cause of stroke. RESULTS: Among 2735 patients admitted between 1992 and 2011, 275 (10.0%) were classified as ESUS. In the majority of ESUS (74.2%), symptoms were maximal at onset. ESUS were of moderate severity (median National Institute Health Stroke Scale score, 5). The most prevalent risk factor was arterial hypertension (64.7%), and 50.9% of patients were dyslipidemic. Among potential causes of the ESUS, covert atrial fibrillation (AF) was the most prevalent: in 30 (10.9%) patients, AF was diagnosed during hospitalization for stroke recurrence, whereas in 50 (18.2%) patients AF was detected after repeated ECG monitoring during follow-up. Also, covert AF was strongly suggested in 38 patients (13.8%) but never recorded. CONCLUSIONS: About 10% of patients with first-ever ischemic stroke met criteria for ESUS; covert paroxysmal AF seems to be a frequent cause of ESUS.


Asunto(s)
Fibrilación Atrial/complicaciones , Infarto Encefálico/etiología , Embolia Intracraneal/etiología , Sistema de Registros , Anciano , Anciano de 80 o más Años , Fibrilación Atrial/diagnóstico , Estudios de Cohortes , Dislipidemias/complicaciones , Electrocardiografía , Femenino , Grecia , Humanos , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo , Accidente Cerebrovascular/etiología
9.
Stroke ; 46(1): 272-4, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25370590

RESUMEN

BACKGROUND AND PURPOSE: Microwave Radiometry (MWR) allows in vivo noninvasive assessment of internal temperature of tissues. The aim of the present study was to evaluate in patients with ischemic stroke and bilateral carotid plaques (1) whether ipsilateral carotid arteries exhibit higher temperature differences (ΔT), as assessed by MWR; (2) the predictive accuracy of MWR in symptomatic carotid artery identification. METHODS: Consecutive patients with recent acute anterior circulation ischemic stroke because of large artery atherosclerosis were included in the study. Carotid arteries of all patients were evaluated by carotid ultrasound and MWR. RESULTS: In total, 50 patients were included in the study. Culprit carotid arteries had higher ΔT compared with nonculprit (0.93±0.58 versus 0.58±0.35°C; P<0.001). The addition of ΔT to a risk prediction model based only on ultrasound plaque characteristics increased its predictive accuracy significantly (c-statistic: 0.691 versus 0.768; Pdif=0.05). CONCLUSIONS: Culprit carotid arteries show higher thermal heterogeneity compared with nonculprit carotid arteries in patients with acute ischemic stroke and bilateral carotid plaques. MWR has incremental value in culprit carotid artery discrimination.


Asunto(s)
Isquemia Encefálica/inmunología , Arterias Carótidas/diagnóstico por imagen , Enfermedades de las Arterias Carótidas/inmunología , Inflamación/diagnóstico , Placa Aterosclerótica/inmunología , Accidente Cerebrovascular/inmunología , Temperatura , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/complicaciones , Enfermedades de las Arterias Carótidas/complicaciones , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Femenino , Humanos , Inflamación/complicaciones , Masculino , Microondas , Persona de Mediana Edad , Placa Aterosclerótica/diagnóstico por imagen , Radiometría , Estadística como Asunto , Accidente Cerebrovascular/etiología , Termografía , Ultrasonografía
10.
Stroke ; 46(8): 2087-93, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26159795

RESUMEN

BACKGROUND AND PURPOSE: Information about outcomes in Embolic Stroke of Undetermined Source (ESUS) patients is unavailable. This study provides a detailed analysis of outcomes of a large ESUS population. METHODS: Data set was derived from the Athens Stroke Registry. ESUS was defined according to the Cryptogenic Stroke/ESUS International Working Group criteria. End points were mortality, stroke recurrence, functional outcome, and a composite cardiovascular end point comprising recurrent stroke, myocardial infarction, aortic aneurysm rupture, systemic embolism, or sudden cardiac death. We performed Kaplan-Meier analyses to estimate cumulative probabilities of outcomes by stroke type and Cox-regression to investigate whether stroke type was outcome predictor. RESULTS: 2731 patients were followed-up for a mean of 30.5±24.1months. There were 73 (26.5%) deaths, 60 (21.8%) recurrences, and 78 (28.4%) composite cardiovascular end points in the 275 ESUS patients. The cumulative probability of survival in ESUS was 65.6% (95% confidence intervals [CI], 58.9%-72.2%), significantly higher compared with cardioembolic stroke (38.8%, 95% CI, 34.9%-42.7%). The cumulative probability of stroke recurrence in ESUS was 29.0% (95% CI, 22.3%-35.7%), similar to cardioembolic strokes (26.8%, 95% CI, 22.1%-31.5%), but significantly higher compared with all types of noncardioembolic stroke. One hundred seventy-two (62.5%) ESUS patients had favorable functional outcome compared with 280 (32.2%) in cardioembolic and 303 (60.9%) in large-artery atherosclerotic. ESUS patients had similar risk of composite cardiovascular end point as all other stroke types, with the exception of lacunar strokes, which had significantly lower risk (adjusted hazard ratio, 0.70 [95% CI, 0.52-0.94]). CONCLUSIONS: Long-term mortality risk in ESUS is lower compared with cardioembolic strokes, despite similar rates of recurrence and composite cardiovascular end point. Recurrent stroke risk is higher in ESUS than in noncardioembolic strokes.


Asunto(s)
Embolia/diagnóstico , Embolia/mortalidad , Sistema de Registros , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/mortalidad , Estudios de Seguimiento , Grecia/epidemiología , Humanos , Mortalidad/tendencias , Estudios Prospectivos , Factores de Riesgo , Resultado del Tratamiento
11.
J Strength Cond Res ; 29(9): 2559-69, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25719913

RESUMEN

The aim of the study was to compare the effects of compound vs. complex resistance training on strength, high-speed movement performance, and muscle composition. Eighteen young men completed compound (strength and power sessions on alternate days) or complex training (strength and power sets within a single session) 3 times per week for 6 weeks using bench press, leg press, Smith machine box squat, and jumping exercises. Pre- and posttraining, jumping and throwing performance and maximum bench press, leg press, and Smith machine box squat strength were evaluated. The architecture of vastus lateralis and gastrocnemius muscle was assessed using ultrasound imaging. Vastus lateralis morphology was assessed from muscle biopsies. Jumping (4 ± 3%) and throwing (9 ± 8%) performance increased only with compound training (p < 0.02). Bench press (5 vs. 18%), leg press (17 vs. 28%), and Smith machine box squat (27 vs. 35%) strength increased after both compound and complex training. Vastus lateralis thickness and fascicle angle and gastrocnemius fascicle angle were increased with both compound and complex training. Gastrocnemius fascicle length decreased only after complex training (-11.8 ± 9.4%, p = 0.006). Muscle fiber cross-sectional areas increased only after complex training (p ≤ 0.05). Fiber type composition was not affected by either intervention. These results suggest that short-term strength and power training on alternate days is more effective for enhancing lower-limb and whole-body power, whereas training on the same day may induce greater increases in strength and fiber hypertrophy.


Asunto(s)
Adaptación Fisiológica , Fuerza Muscular/fisiología , Músculo Esquelético/anatomía & histología , Músculo Cuádriceps/anatomía & histología , Entrenamiento de Fuerza/métodos , Adulto , Biopsia , Estudios de Casos y Controles , Humanos , Masculino , Fibras Musculares Esqueléticas/fisiología , Músculo Esquelético/diagnóstico por imagen , Músculo Cuádriceps/diagnóstico por imagen , Ultrasonografía , Adulto Joven
12.
Am J Hum Genet ; 88(6): 718-728, 2011 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-21596366

RESUMEN

Moyamoya is a cerebrovascular angiopathy characterized by a progressive stenosis of the terminal part of the intracranial carotid arteries and the compensatory development of abnormal and fragile collateral vessels, also called moyamoya vessels, leading to ischemic and hemorrhagic stroke. Moyamoya angiopathy can either be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions, including neurofibromatosis, Down syndrome, TAAD (autosomal-dominant thoracic aortic aneurysm), and radiotherapy of head tumors (moyamoya syndromes). Its prevalence is ten times higher in Japan than in Europe, and an estimated 6%-12% of moyamoya disease is familial in Japan. The pathophysiological mechanisms of this condition remain obscure. Here, we report on three unrelated families affected with an X-linked moyamoya syndrome characterized by the association of a moyamoya angiopathy, short stature, and a stereotyped facial dysmorphism. Other symptoms include an hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, and early bilateral acquired cataract. We show that this syndromic moyamoya is caused by Xq28 deletions removing MTCP1/MTCP1NB and BRCC3. We also show that brcc3 morphant zebrafish display angiogenesis defects that are rescued by endothelium-specific expression of brcc3. Altogether, these data strongly suggest that BRCC3, a deubiquitinating enzyme that is part of the cellular BRCA1 and BRISC complexes, is an important player in angiogenesis and that BRCC3 loss-of-function mutations are associated with moyamoya angiopathy.


Asunto(s)
Vasos Sanguíneos/anomalías , Cromosomas Humanos X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Proteínas de la Membrana/genética , Enfermedad de Moyamoya/genética , Neovascularización Fisiológica/genética , Animales , Secuencia de Bases , Encéfalo/irrigación sanguínea , Enzimas Desubicuitinizantes , Cara/anomalías , Femenino , Eliminación de Gen , Técnicas de Silenciamiento del Gen , Humanos , Masculino , Datos de Secuencia Molecular , Enfermedad de Moyamoya/diagnóstico , Enfermedad de Moyamoya/patología , Linaje , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas/genética , Pez Cebra/anomalías , Pez Cebra/genética
13.
Cerebrovasc Dis ; 38(4): 302-7, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25412914

RESUMEN

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations of the NOTCH3 gene, which result in degeneration of vascular smooth muscle cells, arteriolar stenosis, and impaired cerebral blood flow. For clinicians this is the commonest hereditary adult-onset condition causing stroke and vascular dementia at middle age. Atypical phenotypes have been recognized, and the disease is probably underdiagnosed in the wider stroke population. Coexistence of autoimmunity is atypical and has been described only in occasional patients. METHODS: Three members of a Greek family from the island of Lesvos of North East Greece were evaluated. The patients come from a four-generation family in which there were at least seven members with clinical data suggestive of CADASIL. We describe here the clinical, imaging and biochemical findings in this family with R169C mutation at exon 4 and presenting additional clinical and biochemical findings suggestive of autoimmune disorder. DNA was extracted from whole blood using standard procedures for sequencing. RESULTS: Three affected members of this family carried the R169C. In a phenotypic analysis of affected individuals from four generations with CADASIL, the disease was characterized by migraine attacks, recurrent subcortical infarcts, and cognitive decline with typical anterior temporal lobe white matter lesions. At least 3 mutation carriers from two generations had increased antinuclear antibody (ANA) titers and various combinations of rash, joint pains, photosensitivity, and renal involvement. CONCLUSION: This is a rare description of the coexistence of autoimmunity in CADASIL patients with possible worsening clinical effects. The study extends the spectrum of atypical presentation of CADASIL. The coexistence of autoimmunity does not necessarily exclude CADASIL, but may cause an additional diagnostic and therapeutic challenge. This autoimmune disorder may have increased the severity of the disease and, additionally, may be related to the pathogenetic mechanisms of CADASIL. It is possible that the NOTCH3 mutation alone is not enough to trigger autoimmunity since, in the case of our family, the R169C mutation has already been described in other families with no evidence of coexistent autoimmunity. Other genetic or environmental factors or interactions and/or common pathways between the vascular and immune systems are probably co-operating. Further, prospective studies are needed to clarify the prevalence and types of autoimmune disorders present in CADASIL families.


Asunto(s)
Autoinmunidad/genética , CADASIL/genética , Mutación , Receptores Notch/genética , Adulto , Anticuerpos Antinucleares/sangre , Biomarcadores/sangre , CADASIL/sangre , CADASIL/complicaciones , CADASIL/diagnóstico , CADASIL/inmunología , CADASIL/psicología , CADASIL/terapia , Análisis Mutacional de ADN , Exones , Femenino , Predisposición Genética a la Enfermedad , Grecia , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Receptor Notch3
14.
J Strength Cond Res ; 28(12): 3484-95, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24910954

RESUMEN

The purpose of the study was to investigate the effects of power training with light vs. heavy loads during the tapering phases of a double periodized training year on track and field throwing performance. Thirteen track and field throwers aged 16-26 years followed 8 months of systematic training for performance enhancement aiming at 2 tapering phases during the winter and the spring competition periods. Athletes performed tapering with 2 different resistance training loads (counterbalanced design): 7 athletes used 30% of 1 repetition maximum (1RM) light-load tapering (LT), and 6 athletes used the 85% of 1RM heavy-load tapering (HT), during the winter tapering. The opposite was performed at the spring tapering. Before and after each tapering, throwing performance, 1RM strength, vertical jumping, rate of force development (RFD), vastus lateralis architecture, and rate of perceived exertion were evaluated. Throwing performance increased significantly by 4.8 ± 1.0% and 5.6 ± 0.9% after LT and HT, respectively. Leg press 1RM and squat jump power increased more after HT than LT (5.9 ± 3.2% vs. -3.4 ± 2.5%, and 5.1 ± 2.4% vs. 0.9 ± 1.4%, respectively, p ≤ 0.05). Leg press RFD increased more in HT (38.1 ± 16.5%) compared with LT (-2.9 ± 6.7%), but LT induced less fatigue than HT (4.0 ± 1.5 vs. 6.7 ± 0.9, p ≤ 0.05). Muscle architecture was not altered after either program. These results suggest that performance increases similarly after tapering with LT or HT in track and field throwers, but HT leads to greater increases in strength, whole body power, and RFD.


Asunto(s)
Rendimiento Atlético/fisiología , Entrenamiento de Fuerza/métodos , Atletismo , Extremidad Superior/fisiología , Adolescente , Adulto , Femenino , Humanos , Masculino , Fuerza Muscular/fisiología , Distribución Aleatoria , Adulto Joven
15.
Neurology ; 102(11): e209445, 2024 Jun 11.
Artículo en Inglés | MEDLINE | ID: mdl-38759137

RESUMEN

BACKGROUND AND OBJECTIVES: Gene-gene interactions likely contribute to the etiology of multifactorial diseases such as cerebral venous thrombosis (CVT) and could be one of the main sources of known missing heritability. We explored Factor XI (F11) and ABO gene interactions among patients with CVT. METHODS: Patients with CVT of European ancestry from the large Bio-Repository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) international collaboration were recruited. Codominant modelling was used to determine interactions between genome-wide identified F11 and ABO genes with CVT status. RESULTS: We studied 882 patients with CVT and 1,205 ethnically matched control participants (age: 42 ± 15 vs 43 ± 12 years, p = 0.08: sex: 71% male vs 68% female, p = 0.09, respectively). Individuals heterozygous (AT) for the risk allele (T) at both loci (rs56810541/F11 and rs8176645/ABO) had a 3.9 (95% CI 2.74-5.71, p = 2.75e-13) increase in risk of CVT. Individuals homozygous (TT) for the risk allele at both loci had a 13.9 (95% CI 7.64-26.17, p = 2.0e-15) increase in risk of CVT. The presence of a non-O blood group (A, B, AB) combined with TT/rs56810541/F11 increased CVT risk by OR = 6.8 (95% CI 4.54-10.33, p = 2.00e15), compared with blood group-O combined with AA. DISCUSSION: Interactions between factor XI and ABO genes increase risk of CVT by 4- to 14-fold.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Factor XI , Humanos , Sistema del Grupo Sanguíneo ABO/genética , Femenino , Masculino , Adulto , Persona de Mediana Edad , Factor XI/genética , Trombosis de la Vena/genética , Trombosis Intracraneal/genética , Epistasis Genética/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple , Galactosiltransferasas
16.
J Sports Sci Med ; 12(1): 130-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24149736

RESUMEN

The purpose of the present study was to investigate the effects of 6 weeks strength vs. ballistic-power (Power) training on shot put throwing performance in novice throwers. Seventeen novice male shot-put throwers were divided into Strength (N = 9) and Power (n = 8) groups. The following measurements were performed before and after the training period: shot put throws, jumping performance (CMJ), Wingate anaerobic performance, 1RM strength, ballistic throws and evaluation of architectural and morphological characteristics of vastus lateralis. Throwing performance increased significantly but similarly after Strength and Power training (7.0-13.5% vs. 6.0-11.5%, respectively). Muscular strength in leg press increased more after Strength than after Power training (43% vs. 21%, respectively), while Power training induced an 8.5% increase in CMJ performance and 9.0 - 25.8% in ballistic throws. Peak power during the Wingate test increased similarly after Strength and Power training. Muscle thickness increased only after Strength training (10%, p < 0.05). Muscle fibre Cross Sectional Area (fCSA) increased in all fibre types after Strength training by 19-26% (p < 0.05), while only type IIx fibres hypertrophied significantly after Power training. Type IIx fibres (%) decreased after Strength but not after Power training. These results suggest that shot put throwing performance can be increased similarly after six weeks of either strength or ballistic power training in novice throwers, but with dissimilar muscular adaptations. Key pointsBallistic-power training with 30% of 1RM is equally effective in increasing shot put performance as strength training, in novice throwers, during a short training cycle of six weeks.In novice shot putters with relatively low initial muscle strength/mass, short-term strength training might be more important since it can increase both muscle strength and shot put performance.The ballistic type of power training resulted in a significant increase of the mass of type IIx muscle fibres and no change in their proportion. Thus, this type of training might be used effectively during the last weeks before competition, when the strength training load is usually reduced, in order to increase muscle power and shot put performance in novice shot putters.

17.
J Clin Med ; 12(18)2023 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-37762892

RESUMEN

BACKGROUND AND PURPOSE: The aim of our study is to present, for the first time, the clinical, radiological, and neurocognitive characteristics of Greek adult patients with Moyamoya disease (MMD). METHODS: We analyzed prospectively collected data of 12 patients referred to our department from 2004 to 2019. All patients underwent a thorough diagnostic work up, including extensive clinical, neuroradiological, and neurocognitive assessment. RESULTS: Our study population consisted of 7 females and the median age at the time of the diagnosis was 43.5 years. No patient had a positive family history of the disease and roughly 50% were hypertensives. Ten patients presented with transient or permanent cerebrovascular ischemia and two patients suffered from hemorrhagic complications. The median NIHSS was 7.5 (0-23) and clinical status remained stable during follow-up with conservative treatment in most of the patients. The majority (83.3%) had bilateral disease confirmed by DSA. All lesions exclusively affected the anterior circulation, with 50% of patients presenting with stenoocclusive changes. No aneurysm or AVM were revealed. The most common neurocognitive deficits were in the executive and language domains. CONCLUSIONS: Our MMD patients had a later onset of the disease and an absence of familial occurrence. The most common manifestation was ischemia, transient or permanent, and all lesions affected the anterior circulation, whereas no vascular malformations (AVM, aneurysms) were demonstrated in brain imaging. These findings in Greek patients imply a probable different, Mediterranean phenotype.

18.
Stroke ; 43(10): 2624-30, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22798330

RESUMEN

BACKGROUND AND PURPOSE: We compared among young patients with ischemic stroke the distribution of vascular risk factors among sex, age groups, and 3 distinct geographic regions in Europe. METHODS: We included patients with first-ever ischemic stroke aged 15 to 49 years from existing hospital- or population-based prospective or consecutive young stroke registries involving 15 cities in 12 countries. Geographic regions were defined as northern (Finland, Norway), central (Austria, Belgium, France, Germany, Hungary, The Netherlands, Switzerland), and southern (Greece, Italy, Turkey) Europe. Hierarchical regression models were used for comparisons. RESULTS: In the study cohort (n=3944), the 3 most frequent risk factors were current smoking (48.7%), dyslipidemia (45.8%), and hypertension (35.9%). Compared with central (n=1868; median age, 43 years) and northern (n=1330; median age, 44 years) European patients, southern Europeans (n=746; median age, 41 years) were younger. No sex difference emerged between the regions, male:female ratio being 0.7 in those aged <34 years and reaching 1.7 in those aged 45 to 49 years. After accounting for confounders, no risk-factor differences emerged at the region level. Compared with females, males were older and they more frequently had dyslipidemia or coronary heart disease, or were smokers, irrespective of region. In both sexes, prevalence of family history of stroke, dyslipidemia, smoking, hypertension, diabetes mellitus, coronary heart disease, peripheral arterial disease, and atrial fibrillation positively correlated with age across all regions. CONCLUSIONS: Primary preventive strategies for ischemic stroke in young adults-having high rate of modifiable risk factors-should be targeted according to sex and age at continental level.


Asunto(s)
Demografía , Dislipidemias/complicaciones , Hipertensión/complicaciones , Fumar/efectos adversos , Accidente Cerebrovascular/etnología , Accidente Cerebrovascular/epidemiología , Adolescente , Adulto , Factores de Edad , Estudios de Cohortes , Europa (Continente)/epidemiología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Sistema de Registros , Análisis de Regresión , Factores de Riesgo , Factores Sexuales , Factores de Tiempo , Adulto Joven
19.
J Neuropsychiatry Clin Neurosci ; 24(3): 349-53, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23037649

RESUMEN

The authors sought to determine the relative efficacy and tolerability of duloxetine versus citalopram and sertraline in the treatment of poststroke depression (PSD), anxiety, and fatigue. A group of 60 patients with PSD were assigned to receive duloxetine, citalopram, or sertraline and were assessed over a 3-month period for depression, anxiety, and fatigue. Improvement of depression and anxiety, but not fatigue, was observed in all study groups. Duloxetine was well tolerated and significantly more effective than citalopram and sertraline for the treatment of anxiety symptoms in PSD patients. None of the antidepressants used was effective for reducing symptoms of fatigue.


Asunto(s)
Antidepresivos/uso terapéutico , Ansiedad/tratamiento farmacológico , Depresión/tratamiento farmacológico , Fatiga/tratamiento farmacológico , Actividades Cotidianas , Adulto , Anciano , Ansiedad/etiología , Citalopram/uso terapéutico , Depresión/etiología , Clorhidrato de Duloxetina , Fatiga/etiología , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Sertralina/uso terapéutico , Accidente Cerebrovascular/complicaciones , Tiofenos/uso terapéutico , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
20.
Neurol Sci ; 33(6): 1397-9, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22526769

RESUMEN

Non-ketotic hyperglycemia may be a cause of hemiballism-hemichorea. We present an elderly female type II diabetic patient with right-sided hemiballism-hemichorea of acute onset during hypoglycemia following insulin overtreatment of non-ketotic hyperglycemia. Brain computerized tomography and magnetic resonance imaging scans revealed characteristic hyperdensity and T1 hyperintensity, respectively, in the left basal ganglia, in addition to pallido-dentate calcifications, suggestive of Fahr's syndrome. Although extremely rare, hypoglycemia may be a cause of hemiballism-hemichorea especially in the presence of predisposing factors such as previous hyperglycemic episodes and Fahr's syndrome.


Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico , Corea/diagnóstico , Discinesias/diagnóstico , Hipoglucemia/diagnóstico , Anciano de 80 o más Años , Enfermedades de los Ganglios Basales/complicaciones , Corea/etiología , Discinesias/etiología , Femenino , Humanos , Hipoglucemia/complicaciones , Síndrome
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