Search results for "SCIC"
showing 10 items of 161 documents
Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease
2015
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variant…
Physical Activity Predicts Population-Level Age-Related Differences in Frontal White Matter
2018
Physical activity has positive effects on brain health and cognitive function throughout the life span. Thus far, few studies have examined the effects of physical activity on white matter microstructure and psychomotor speed within the same, population-based sample (critical if conclusions are to extend to the wider population). Here, using diffusion tensor imaging and a simple reaction time task within a relatively large population-derived sample (N = 399; 18–87 years) from the Cambridge Centre for Ageing and Neuroscience (Cam-CAN), we demonstrate that physical activity mediates the effect of age on white matter integrity, measured with fractional anisotropy. Higher self-reported daily ph…
Shape analysis of the cingulum, uncinate and arcuate fasciculi in patients with bipolar disorder
2016
Background: Abnormal maturation of brain connectivity is supposed to underlie the dysfunctional emotion regulation in patients with bipolar disorder (BD). To test this hypothesis, white matter integrity is usually investigated using measures of water diffusivity provided by MRI. Here we consider a more intuitive aspect of the morphometry of the white matter tracts: the shape of the fibre bundles, which is associated with neurodevelopment. We analyzed the shape of 3 tracts involved in BD: the cingulum (CG), uncinate fasciculus (UF) and arcuate fasciculus (AF). Methods: We analyzed diffusion MRI data in patients with BD and healthy controls. The fibre bundles were reconstructed using Q-ball–b…
Topodiagnostic value of blink reflex R1 changes: a digital postprocessing MRI correlation study.
2001
The aim of the study was to investigate the relation of the blink reflex R1 arc to known anatomical brainstem structures. Acute vascular brainstem lesions as identified by magnetic resonance imaging (MRI) of patients with isolated R1 pathology were superimposed into a stereotactic anatomical atlas using a new method of digital postprocessing. Isolated acute brainstem lesions were documented by diffusion-weighted MRI in 12 of 24 patients with unilateral R1 pathology. The lesions were located in the ipsilateral mid- to lower pons. In three patients only, the lesion had partial contact with the principal sensory nucleus of the trigeminal nerve (PSN) on at least one level. In two patients, the …
Behavior of fascicles and the myotendinous junction of human medial gastrocnemius following eccentric strength training
2009
This study is the first in which measurements of thickness, fascicle angle and length, and tendon elongation were combined to examine the impact of eccentric strength training on both muscle architecture and tendinous structures. Eighteen healthy male subjects were divided into an eccentric strength training group (n = 10) and a control group (n = 8). The training program consisted of 18 sessions of eccentric exercises over a 7-week period. All subjects were tested at baseline and after the last training session. Using ultrasound imaging, the fascicle angle and length and thickness of the medial gastrocnemius (MG) were analyzed at rest (i.e., theta(p), Fl(p), and t(p), respectively), at 50%…
Lithium and GSK3-β promoter gene variants influence white matter microstructure in bipolar disorder
2013
Lithium is the mainstay for the treatment of bipolar disorder (BD) and inhibits glycogen synthase kinase 3-beta (GSK3-beta). The less active GSK3-beta promoter gene variants have been associated with less detrimental clinical features of BD. GSK3-beta gene variants and lithium can influence brain gray matter structure in psychiatric conditions. Diffusion tensor imaging (DTI) measures of white matter (WM) integrity showed widespred disruption of WM structure in BD. In a sample of 70 patients affected by a major depressive episode in course of BD, we investigated the effect of ongoing long-term lithium treatment and GSK3-beta promoter rs334558 polymorphism on WM microstructure, using DTI and …
Contribution of the tendinous tissue to force enhancement during stretch–shortening cycle exercise depends on the prestretch and concentric phase int…
2005
When the prestretch intensity and concentric work are increased in stretch-shortening cycle (SSC) exercises, the utilization of the elastic energy can increase during the concentric phase. In order to further understand this process during SSC exercises, the interaction between fascicle-tendinous tissues (TT) of the vastus lateralis (VL) muscle was examined under different prestretch and rebound intensity drop jumps. Ten male subjects participated in the study. Direct VL fascicle lengths (N = 10) and in vivo patellar tendon force (N = 1) were measured together with the electromyographic (EMG) activity of VL during the trials. With increasing drop height but the same rebound height condition…
Medial gastrocnemius muscle behavior during human running and walking.
2007
Utilization of elastic energy in the tendinous tissues (TT) of the human skeletal muscle may be task dependent. The present study was designed to investigate this problem by comparing the fascicle-TT interaction of the medial gastrocnemius muscle (MG) during ground contact of running and walking. Seven subjects ran and walked with a natural cadence. Ankle and knee joint angular data were recorded by electrogoniometers for estimating the entire MG muscle-tendon unit (MTU) length, together with the ground reaction forces. The MG fascicle length was measured by using the high-speed ultrasound image scanning during movements. The results showed that in running, after the rapid early fascicle st…
Interaction between fascicle and tendinous tissues in short-contact stretch-shortening cycle exercise with varying eccentric intensities
2005
The interaction between fascicle and tendinous tissues (TT) in short-contact drop jumps (DJ) with three different drop heights [low (Low), optimal (OP), and high (High)] was examined with 11 subjects. The ground reaction force (F z) and ankle and knee joint angles were measured together with real-time ultrasonography (fascicle length) and electromyographic activities of the medial gastrocnemius (MG) and vastus lateralis (VL) muscles during the movement. With increasing drop height, the braking force and flight time increased from Low to OP ( P < 0.05). In High, the braking force increased but the flight time decreased compared with OP ( P < 0.05). During contact of Low and OP conditi…
Treadmill versus overground and barefoot versus shod comparisons of triceps surae fascicle behaviour in human walking and running
2013
Studies of human locomotion are commonly performed on a treadmill or overground, as well as with or without footwear. These testing modalities have been suggested to influence kinematics, kinetics and/or spatio-temporal variables differently. However, it is unclear whether they influence contractile behaviour at the level of the muscle fascicles. This has major relevance because results from studies performed with different combinations of the testing modalities are often compared. The present study used ultrasound to examine fascicle behaviour of the medial gastrocnemius (MG) and soleus muscles of ten young, healthy males during walking and running on a treadmill and overground, as well as…