Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Unilateral upper limb amputation causes changes in statics of the spine. As a result asymmetrical posture of the spine, muscular asymmetries follow. In this study a population of upper limb amputees (above and below elbow amputees) is examined by clinical, electromyographical analysis and gait analysis. Upper limb amputations cause in correlation to weight loss a shift of the trunk to the side of the amputation, a scoliosis with a bowing to the side of the amputation, an elevation of the shoulder on the amputation side and a torsion of the trunk. Muscular asymmetries result from loss of function (muscles of the arm, M. latissimus, M. trapezius) and by shifting of the center of gravity. In order to get the center of gravity over the legs, the amputee compensates the loss of weight by shifting the upper trunk to the side of the amputation. As a result the shift of the segmental center of gravity at the lumber height to the side of the normal arm with muscular asymmetry in the erector trunci lumbalis results. As well we saw an overactivity of musculus glutaeus medius and resulting stress of the amputation sided hip joint. There was a remarkable difference between above and below elbow amputees caused by differences in weight loss. Muscular and static asymmetries in amputees who lost their arm only a short period before could be reduced by compensating the weight loss. Results for technical orthopaedic fitting and stress on gymnastic procedures to compensate these statistical problems are discussed.
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PMID:[Asymmetry of posture and truncal musculature following unilateral arm amputation--a clinical, electromyographic, posture analytical and photogrammetric study]. 902 19

Holt-Oram syndrome, first described in 1960, is one of many heart-hand syndromes. Upper limb involvement, predominantly radial, is universal, bilateral and asymmetrical, with variable severity. Cardiac defects occur in 95% of familial cases. Inheritance is autosomal dominant with 100% penetrance and no evidence of reduced fitness. Mutations in TBX5 have been reported in Holt-Oram syndrome. This study was conducted to establish whether a particular facial appearance is associated with Holt-Oram syndrome, one which might facilitate early diagnosis and aid differentiation from other heart-hand syndromes. Twenty-five individuals were evaluated, age 11 months to 70 years. A complete dysmorphological examination was carried out, serial photographs were reviewed, and a series of anthropometric craniofacial measurements was obtained. Subjectively, the face is square with a broad lower jaw and parietal bossing. The forehead is prominent and tall. There is narrowing at the temples. Eyes seem close-set. The nose appears relatively long, with a wide base, and short columella. With age the face becomes longer and more oval. Our anthropometric approach confirms certain clinical impressions. However, there is no objective evidence for increased face or nose height, two of the most striking features of the "gestalt." Nasal height is, in fact, reduced at all ages. There does not appear to be a syndrome-specific pattern profile to facilitate the discrimination of this condition from other heart-hand syndromes.
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PMID:Holt-Oram syndrome: is there a "face"? 1268 61

This comparison of methods for assessing the development of muscle insertion sites, or entheses, suggests that three-dimensional (3D) quantification of enthesis morphology can produce a picture of habitual muscle use patterns in a past population that is similar to one produced by ordinal scores for describing enthesis morphology. Upper limb skeletal elements (humeri, radii, and ulnae) from a sample of 24 middle-aged adult males from the Pottery Mound site in New Mexico were analyzed for both fibrous and fibrocartilaginous enthesis development with three different methods: ordinal scores, two-dimensional (2D) area measurements, and 3D surface areas. The methods were compared using tests for asymmetry and correlations among variables in each quantitative data set. 2D representations of enthesis area did not agree as closely as ordinal scores and 3D surface areas did regarding which entheses were significantly asymmetrical. There was significant correlation between 3D and 2D data, but correlation coefficients were not consistently high. Intraobserver error was also assessed for the 3D method. Cronbach's alpha values fell between 0.68 and 0.73, and error rates for all entheses fell between 10% and 15%. Marginally acceptable intraobserver error and the analytic versatility of 3D images encourage further investigation of using 3D scanning technology for quantifying enthesis development.
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PMID:Technical note: 3D representation and analysis of enthesis morphology. 2410 32

Upper limb motor blocks (ULMB) (inability to initiate or sudden discontinue in voluntary movements) have been identified in both unimanual and bimanual tasks in individuals with Parkinson's disease (PD). In particular, ULMB have been observed during rhythmic bimanual coordination when switching between phase patterns which is required (e.g. between in-phase and anti-phase). While sensory-perceptual mechanisms have recently been suggested to be involved in lower limb freezing, there has been no consensus on the mechanism that evokes ULMB or whether motor blocks respond to dopamine replacement like other motor symptoms of PD. The current study investigated the occurrence of ULMB in PD participants without ('off') and with ('on') dopamine replacement using bimanual wrist flexion-extension with external auditory cues. In Experiment 1, coordination was performed in either in-phase (simultaneous flexion and extension) or anti-phase (asymmetrical flexion and extension between the limbs) in one of three sensory conditions: no vision, normal vision or augmented vision. Cycle frequency was increased within each trial across seven cycle frequencies (0.75-2 Hz). In Experiment 2, coordination was initiated in either phase pattern and participants were cued to make an intentional switch between phases in the middle of trials. Trials were performed at one of two cycle frequencies (1 or 2 Hz) and one of two sensory conditions: no vision or normal vision. Healthy age-matched control participants were also investigated in both experiments for the occurrence of motor blocks that were measured using automated detection from a computer algorithm. The results from Experiment 1 indicated that increasing cycle frequency resulted in more ULMB in individuals with PD during continuous coordinated movement, regardless of dopaminergic status, phase pattern or sensory condition. Experiment 2 also confirmed an increased occurrence of ULMB with increased cycle frequency. Furthermore, a large amount of ULMB were observed when initiating anti-phase coordination at 2 Hz, as well as after both externally-cued switches and in 'catch trials' with distracting auditory cues when no switch was required. Dopamine replacement was not found to influence the frequency of ULMB in either experiment. Therefore, ULMB likely result from non-hypodopaminergic impairments associated with PD. Specifically, ULMB may be caused by an inability to shift attentional control under increased cognitive demand that could be associated with hypoactivation in motor and prefrontal areas.
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PMID:The dopaminergic system in upper limb motor blocks (ULMB) investigated during bimanual coordination in Parkinson's disease (PD). 2528 Aug 61